Cociente calcio/creatinina orina. Se trata de hipercalcemia hipocalciúrica familiar o hipercalcemia familiar benigna. Trastorno autosómico dominante. Asintomático. No se curan tras tratamiento quirúrgico; se debe a mutación del receptor sensible al calcio. Pregunta difícil ya que hay conocer datos de una enfermedad que no se suele preguntar en el MIR.

En una paciente de 30 años se encuentra una cifra de calcio de 11 mg/dl (normal menos de 10,5 mg/dl) durante un examen de empresas rutinario. La determinación de PTH fue de 45 pg/ml (VN 10-55 pg/ml). La historia es anodina, salvo por el hecho de que la madre y el abuelo paterno fueron diagnosticados de hiperparatiroidismo e intervenidos, aunque permanecieron hipercalcémicos. ¿Qué prueba es más útil para confirmar el diagnóstico?

[Uso de los valores de hormona paratiroidea intranodular obtenidos por punción con aguja fina como factor predictivo de hipoparatiroidismo posoperatorio].

Análisis de los valores de hormona paratiroidea (PTH) intranodular obtenidos por punción con aguja fina como factor predictivo de hipoparatiroidismo posoperatorio. De los 157 pacientes a los que se realizó la medición de la PTH intranodular, se estudiaron 37 que fueron intervenidos quirúrgicamente, estableciendo 15 variables para analizar: edad, sexo, tiempo de evolución, tamaño, cirugía de tiroides asociada, tratamiento preoperatorio con calcimiméticos, litiasis renal, densitometría ósea, aclaramiento de creatinina, calcio y PTH preoperatorios, PTH determinada tras punción con aguja fina, descenso de la PTH intraoperatoria, calcio posoperatorio y malignidad de la tumoración. Estas se compararon con la prueba de ji al cuadrado o el test exacto de Fisher, siendo significativa una p < 0.05, construyéndose así un análisis de regresión logística. El uso de calcimiméticos previo a la cirugía, la PTH preoperatoria > 88 pg/dl, el calcio preoperatorio > 12 mg/dl, los valores de PTH intranodular > 2700 pg/dl, el descenso de la PTH intraoperatoria a < 15 pg/dl y el calcio posoperatorio < 8,5 mg/dl fueron variables independientes significativas en el análisis univariante (p < 0.05) para la predicción del hipoparatiroidismo posoperatorio. Los valores de PTH intranodular pueden predecir qué pacientes tienen mayor riesgo de sufrir un hipoparatiroidismo posoperatorio. Este factor debe tenerse en cuenta durante el estudio y el seguimiento de los pacientes para identificar precozmente posibles complicaciones. To analize if parathyroid hormone (PTH) washout levels can be considered a predictive factor of postoperative hypoparathyroidism and determine its importance relative to other features already known as intraoperative PTH, Ca and PTH preoperative, and others. Of the 157 patients to whom a fine needle aspiration (FNA) biopsy with intranodular parathyroid hormone level measurement was performed (washout PTH) 37 who underwent surgery were studied. 15 variables were taken into account when selecting patients for this study: age, gender, evolution length, size, associated thyroid surgery, preoperative treatment with calcimimetics, presence of renal lithiasis, bone densitometry alterations, creatine clearance, preoperative calcium and PTH levels, PTH scores obtained by fine needle aspiration, intraoperative PTH decrease, postoperative calcium levels and tumour malignancy. We compare the nominal values, using the Chi squared or the exact Fisher test, where p < 0.05 was considered statistically significant and perform a logistic regression analysis. The use of calcimimetics prior to surgery, the preoperative PTH level above 88 pg/dl, the preoperative calcium above 12 mg/dl, washout PTH above 2700 pg/dl, intraoperative PTH level decrease below 15 pg/dl, and postoperative calcium levels under 8.5 mg/dl were all independently significant variables in the univariant analysis (p < 0.05) in order to establish an early postoperative hypoparathyroidism. The rest of the variables were not statistically significative. The PTH washout levels can predict the appearance of postoperative hypoparathyroidism. This factor must be taken into account during the study and follow-up to identify possible complications and establish an adequate treatment on time.

[Secondary hyperparathyroidism in hospitalized aged patients: apropos of 200 assays of intact parathyroid hormone].

Plasma intact parathyroid hormone (PTH) determinations were performed in 200 elderly patients admitted in a geriatric care unit. Abnormally high levels of PTH were observed in 40 subjects. There was a significant correlation between plasma ionized calcium determinations or creatinine clearance and PTH levels. Subjects with high PTH levels exhibited constantly reduced levels of 25 OH-D3. A calcium and vitamin D supplement, performed in 13 patients, was constantly followed by a decrease of the PTH level.

Vitamin D (25(OH)D) in patients with chronic kidney disease stages 2-5.

To establish the impact the chronic kidney disease stage has in the native vitamin D levels in patients not undergoing dialysis treatment. A study performed in Manizales, Colombia, a city located 2,200 meters above sea level, without important stational variations. Patients with 18 years of age or more, with chronic kidney disease stages 2 to 5 and not undergoing dialysis treatment were recruited for this study. Demographic and anthropometric variations were evaluated as well as solar exposure, CKD etiology and laboratory variables related to bone and mineral diseases. For each CKD clinical stage, correlations were evaluated for vitamin D levels, laboratory results for bone and mineral diseases, solar exposure and ethnicity. Three hundred thirty-three patients were evaluated with a median age of 71 years, most of them mestizo (71%), 173 were women. The main CKD etiology was hypertensive nephropathy (32.2%). 21.1% of patients had normal vitamin D levels, 70.1% were within insufficient range and 8.8% were in deficit. A negative correlation was found between the levels of vitamin 25 (OH) D and the values for: creatinine, phosphorous, calcium x phosphorous product, PTH, 24 hours urine protein and BMI. A positive relationship was found for calcium and albumin. Positive significant statistical correlation was found for vitamin 25(OH) D levels and solar exposure for stages 3b and 4 of CKD. It is common to find low levels of vitamin 25(OH) D in patients with CKD; these can contribute to the appearance of secondary hyperparathyroidism. Establecer el impacto del estadio clínico en los niveles de vitamina D nativa en pacientes con enfermedad renal crónica (ERC) sin diálisis. Estudio realizado en Manizales, Colombia, una ciudad tropical ubicada a 2,200 metros de altura sobre el nivel del mar, sin variaciones estacionales importantes a lo largo del año. Se incluyeron pacientes mayores de 18 años, con enfermedad renal crónica estadio 2 a 5 sin tratamiento dialítico. En ellos se evaluaron variables demográficas, antropométricas, grado de exposición solar, etiología de la enfermedad, y variables de laboratorio relacionadas con desórdenes óseos y minerales. Para cada estadío clínico se evaluó la correlación entre los niveles de vitamina D y los resultados de las pruebas de laboratorio relacionadas con desordenes óseos y minerales, exposición solar y etnia. Se evaluaron 331 pacientes, con una edad media de 71 años, la mayoría mestizos (71%), 173 mujeres. La principal etiología de ERC fue nefropatía hipertensiva (33.2%). El 21.1% de los pacientes tenían niveles normales de vitamina D, fueron insuficientes en 70.1% y 8.8% en déficit. Se detectó correlación negativa, entre los niveles de vitamina 25(OH)D y los valores de creatinina, fósforo, producto calcio x fósforo, PTH, proteínas en orina de 24 horas e IMC. Correlación positiva para el calcio y la albumina. Se encontró significancia estadística positiva entre los niveles de vitamina 25(OH)D y la exposición solar para los estadios 3b y 4. En pacientes con ERC es comun detectar bajos niveles de 25(OH)D, los cuales pueden contribuir a la generación de hiperparatiroidismo secundario.

[Serum PTH levels as a predictive factor of hypocalcaemia after total thyroidectomy].

Postoperative parathyroid hormone (PTH) levels as a predictor of hypocalcaemia in patients subjected to total thyroidectomy is analyzed. Prospective study involving 67 patients who underwent total thyroidectomy due to a benign disease. Serum PTH and ionised calcium were measured 20 h after surgery. Sensitivity, specificity and predictive values of PTH and ionised calcium levels were calculated to predict clinical and analytical hypocalcaemia. A total of 42 (62.7%) patients developed hypocalcaemia (ionised calcium<0.95 mmol/l), but only 20 (29.9%) presented with symptoms. PTH concentration the day after surgery was significantly lower in the group that developed symptomatic hypocalcaemia (5.57+/-6.4 pg/ml) than in the asymptomatic (21.5+/-15.3 pg/ml) or normocalcaemic (26.8+/-24.9 pg/ml) groups (p=0.001). Taking the value of 13 pg/ml as a cut-off point of PTH levels, sensitivity, specificity, positive predictive value and negative predictive value were 54%, 72%, 76% and 48%, respectively. On the other hand, sensitivity for predicting symptomatic hypocalcaemia was 95% and specificity was 76%. The test showed a high incidence of false positives (11/30, 36%). Negative predictive value was 97% and positive predictive value was 65%. In multivariate analysis, PTH and ionised calcium were the only perioperative factors that showed an independent predictive value as risk indicators of symptomatic hypocalcaemia. Normal PTH levels 20 h after surgery practically rule out the subsequent appearance of hypocalcaemia symptoms. On the other hand, low PTH levels are not necessarily associated to symptomatic hypocalcaemia due to the high number of false positives.

[Parathormone, cyclic AMP, 1,25 dihydroxyvitamin D and osteocalcin in hypercalciuric renal lithiasis].

A study was undertaken in 46 subjects; 21 patients diagnosed as having HRL and 25 volunteers patients. Biochemical and hormonal analyses were performed in the study population, including determination of Ca, P, Mg, Cr in blood and urine, phosphate tubular resorption (PTR), maximum tubular phosphate resorption (MTPR), fasting calcium secretion (FCS), alkaline phosphatase (AP), hydroxyprolinuria (HPR), osteocalcin (BGP), parathormone (PTH), cAMP, and 1-25(OH)2D. The stone formers showed lower calcemia values (p less than or equal to 0.005d), higher phosphaturia, and magnesiuria (p less than or equal to 0.0005), higher FCS (P less than or equal to 0.005) and higher values for PTH (p less than or equal to 0.01) and cAMP (p less than or equal to 0.0025). No significant differences were observed for the other parameters evaluated. Classification of the patient group into 2 subgroups (renal SbR and absorptive SbA) according to FCS values greater or lower that 0.16 mg/dl, the SbR patient group revealed a higher PTH and 1-25(OH)2D values (p less than or equal to 0.05). There appears to be no increase of bone resorption since AP, HPR, and BGP values in our patients fell within normal ranges. The 1-25(OH)2D levels were also normal and, with respect to the control group, were only elevated for the SbR patient group, whose PTH levels were also observed to be elevated. These increments appear to be related and may result in intermediate forms between renal and absorptive hypercalciuria.

[Primary hyperparathyroidism: clinical and laboratory spectrum].

The authors analyze clinical and laboratorial features of 13 patients with surgically confirmed primary hyperparathyroidism (HPT). Among them, 8 presented renal lithiasis, 7 had bone disease, and 2 had both. All patients were hypercalcemic and had elevated serum carboxyterminal levels of PTH. The aminoterminal portion of the PTH was above the normal range in 9 patients and inappropriately high for the level of serum calcium in other two. The c'AMP was elevated in 7/8 patients. Hypophosphatemia was detected in 8/11 patients. Among the lithiasic patients, hypercalciuria was found in only 3. Five patients were submitted to an oral calcium load test which detected no intestinal hyperabsorption of calcium (IH) secondary to HPT in any of them. The rate of elimination of stones/patient/year was 1.7 before the establishment of HPT diagnosis. Despite the presence of renal lithiasis, hypercalciuria and IH were not common findings in HPT patients. Serum calcium and urinary c'AMP were the best screening tests for the diagnosis of HPT in this series. The diagnosis should be further confirmed determining the PTH.

Centralizing Rectal Cancer Surgery: What Is the Impact of Travel on Patients?

It is unclear what impact centralizing rectal cancer surgery may have on travel burden for patients. This study aimed to determine the impact of centralizing rectal cancer surgery to high-volume centers on patient travel distance. This is a population-based study. The New York State Cancer Registry and Statewide Planning and Research Cooperative System were queried for patients with rectal cancer undergoing proctectomy. Patients with stage I to III rectal cancer who underwent surgical resection between 2004 and 2014 were included. The outcome of interest was travel distance calculated as the straight-line distance between the centroid of the patient residence zip code and the hospital zip code. Mean distance was compared by using the Student t test. A total of 5860 patients met inclusion criteria. The total number of hospitals performing proctectomies for rectal cancer decreased between 2004 and 2014. The average number of proctectomies performed at high-volume centers (20+ resections/year) increased from 16.6 to 24.4 during this time. The average number of miles traveled by patients was 12.1 miles in 2004, and this increased to 15.4 in 2014. If proctectomies were centralized to high-volume centers, there would be 11 facilities. The mean distance traveled would be 24.5 miles. This study is subject to the limitations of an administrative data set. There are no patient preference or referral data. The number of hospitals performing rectal cancer resections in New York State is decreasing and volume by center is increasing. There was a statistically significant difference in the mean distance traveled by patients over time. If rectal cancer resections were centralized to high-volume centers, the mean travel distance would increase by 9.5 miles. There would be a 321% increase in the number of patients having to travel 50+ miles for surgery. Any plan for centralization in New York State will require careful planning to avoid placing undue travel burden on patients. See Video Abstract at http://links.lww.com/DCR/B138. CENTRALIZACIÓN DE LA CIRUGÍA DE CÁNCER RECTAL: ¿CUÁL ES EL IMPACTO DEL VIAJE PARA LOS PACIENTES?: No está claro qué impacto puede tener la centralización de la cirugía de cáncer rectal en la carga de viaje para los pacientes.Determinar el impacto de centralizar la cirugía de cáncer rectal en centros de alto volumen sobre la distancia de viaje del paciente.Este es un estudio basado en cohorte poblacional.El Registro de Cáncer del Estado de Nueva York y el Sistema Cooperativo de Planificación e Investigación Estatal fueron consultados para pacientes con cáncer rectal sometidos a proctectomía.Pacientes con cáncer rectal en estadio I-III que se sometieron a resección quirúrgica entre 2004-2014.El resultado de interés fue la distancia de viaje calculada como la distancia en línea recta entre el centroide de la residencia del paciente y el código postal del hospital. La distancia media se comparó mediante la prueba t de Student.Un total de 5,860 pacientes cumplieron los criterios de inclusión. El número total de hospitales que realizaron proctectomías para cáncer rectal disminuyó entre 2004-2014. El número promedio de proctectomías realizadas en centros de alto volumen (más de 20 resecciones/año) aumentó de 16.6 a 24.4 durante este tiempo. El número promedio de millas recorridas por los pacientes fue de 12.1 millas en 2004 y esto aumentó a 15.4 en 2014. Si las proctectomías se centralizaran en centros de alto volumen, habría 11 instalaciones. La distancia media recorrida sería de 24.5 millas.Limitaciones inherentes a un conjunto de datos administrativos. No existen datos sobre preferencia del paciente o sobre referencia de los mismos.El número de hospitales que realizan resecciones de cáncer rectal en Nueva York está disminuyendo y el volumen por centro está aumentando. Hubo una diferencia estadísticamente significativa en la distancia media recorrida por los pacientes a lo largo del tiempo. Si las resecciones por cáncer rectal se centralizaran en centros de gran volumen, la distancia media de viaje aumentaría 9.5 millas. Habría un aumento del 321% en el número de pacientes que tienen que viajar más de 50 millas para la cirugía. Cualquier plan de centralización en Nueva York requerirá una planificación cuidadosa para evitar imponer una carga de viaje excesiva a los pacientes. Consulte Video Resumen en http://links.lww.com/DCR/B138.

[Comparative characteristics of diagnostic methods of primary hyperparathyroidism in patients with urolithiasis].

Nephrolithiasis (NL) is a frequent complication of hyperparathyroidism (HPT). Such patients account for 5% of those with nephrolithogenesis. The study included 89 HPT patients (age 34.8 +/- 1.9 years) with NL, 22 patients (age 38 +/- 1.4 years) with NL and 10 healthy controls (age 30 +/- 1.2 years). Hypercalciemia was seen in 27-20% of patients with HPT and NL, 9-10% of patients with nephrolithiasis. Evaluation of parathyroid hormone (PTH) levels in the blood of the examinees showed its high diagnostic value: in 89% of HPT patients this level was high. It was also elevated in 10% of NL patients. cAMP in HPT and NL was elevated in 68.48 and 12% of patients, respectively, serum concentration of Ca2+ was high in 81.4 and 24.5%, Ca load test was positive in 80.9 and 10% of the patients, respectively. It is important for diagnosis that in HPT bone mass is low.

Detección de Treponema pallidum subespecie pallidum para el diagnóstico de sífilis congénita mediante reacción en cadena de la polimerasa anidada.

Introducción. La sífilis es una enfermedad producida por Treponema pallidum subespecie pallidum cuya incidencia mundial es de 12 millones de casos por año, aproximadamente; de estos, más de dos millones se presentan en mujeres gestantes, siendo la sífilis congénita la complicación más grave de esta infección en el embarazo.Objetivo. Detectar la presencia de T. pallidum subespecie pallidum en muestras clínicas para el diagnóstico de sífilis congénita mediante reacción en cadena de la polimerasa (PCR) anidada y determinar su concordancia con las pruebas serológicas.Materiales y métodos. Mediante PCR convencional y anidada, se amplificaron tres genes diana (polA, 16S ADNr y TpN47) y se confirmaron los productos de amplificación de los genes TpN47 y polA por secuenciación. Las pruebas serológicas empleadas fueron la VDRL (Venereal Disease Research Laboratory), la de reagina plasmática rápida (Rapid Plasma Reagin, RPR) y la de aglutinación de partículas para Treponema pallidum (Treponema pallidum Particle Agglutination Assay, TPPA).Resultados. La sensibilidad para la PCR convencional fue de 52 pg y, para la PCR anidada, de 0,52 pg. La especificidad con los iniciadores TpN47 y polA fue de 100 %; los resultados de la secuenciación mostraron una identidad de 97 % con T. pallidum. En 70 % de las muestras, los resultados de las pruebas serológicas y la PCR anidada concordaron.Conclusión. El gen TpN47 resultó ser el mejor blanco molecular para la identificación de T. pallidum. La PCR anidada se presenta como una alternativa de diagnóstico molecular promisoria para el diagnóstico de sífilis congénita.

[Evaluation of renal cyclic adenosine monophosphate, serum parathyroid hormone and phosphate reabsorption in recurrent calcium urolithiasis, healthy controls and hyperparathyroidism (author's transl)].

In three groups (n = 12 each) of male controls (22--43 years), patients with recurring calcium urolithiasis (21--36 years) and hyperparathyroidism (HPT; 17--71 years) proven by surgery renal cyclic adenosine monophosphate (RcAMP), fractional tubular phosphate reabsorption and serum parathyroid hormone (PTH) were measured during endogenous creatinine clearance. RcAMP (muMol/g creatinine) was: controls 1.48 +/- SEM 0.27; stone formers 2.037 +/- 0.343 (not significantly different); HPT 6.234 +/- 0.454 (p less than 0.001). There is no overlap between HPT and controls. Phosphate reabsorption is least in HPT (0.84 +/- 0.015), higher in controls (0.924 +/- 0.004) and stone formers (0.941 +/- 0.007). All differences are statistically significant. Under the conditions selected (moderate hydration of individuals) Serum PHT (pg-equiv/ml) is lowest in stome formers (less than 100--339), higher in controls (less than 100--933) and HPT (400--1150). there is no overlap in PHT between the former and the latter group but a marked one between controls and HPT. For clinical purposes the resulting diagnostic uncertainty in a given patient can be overcome by additional determinations of RcAMP and ionised serum calcium: when referring to serum PTH HPT patients fall outside, RCU patients within 2 standard deviations of either parameter in control subjects. This procedure presently appears superior to those proposed in the past (urinary cAMP etc.) but requires confirmation in larger patient populations. Moreover, since HPT prevails in middle and upper age decades, their RcAMP values and those of RCU patients should be related to a range seen in closely age- and sex-matched controls.

Las profesiones de la salud tienen un papel social dual. Por un lado, velan por el mantenimiento de la salud de la población protegiendo el bien común. Por el otro, dictaminan las formas saludables, y por lo tanto socialmente apropiadas, de ser, actuar y pensar. Este último papel, está más ligado al control social de la población que a una preocupación altruista hacia la misma. A través de esta supervisión y control, se construyen los sujetos a los cuales todos/as debemos aspirar a ser para gozar de aceptación social. Los/as profesionales de la salud han jugado un rol protagónico en dicho proceso, siendo los agentes que delimitan y definen lo que es enfermo vs. saludable, útil vs. inútil, apropiado vs. inapropiado. En el caso de la epidemia del VIH, este esfuerzo se ha hecho cada vez más vigente ya que estos/as profesionales juegan un papel importante en el tratamiento de las personas que viven con VIH/SIDA (PVVS). Sin embargo, su función está plasmada de definiciones que sirven para criminalizar a las PVVS. El objetivo de este estudio fue explorar la manera en que una muestra de profesionales de la salud en Puerto Rico construyen a las PVVS. Con este propósito, entrevistamos 80 profesionales de la salud y estudiantes de estas profesiones. Estas entrevistas fueron grabadas, transcritas y sometidas a un análisis de discurso. Los resultados reflejaron que según las personas participantes: 1) la PVVS no es una persona "normal" o funcional bajo los estándares sociales debido a que su salud no se los permite, 2) representa una carga para la sociedad incluyendo familiares, amigos/as, el mundo del trabajo, e incluso para el gobierno, 3) debe ser vigilada porque representa un riesgo para la persona seronegativa que es descrita como saludable y productiva, y 4) necesita que su salud y conducta sexual sean controladas por vía legal y/o por las personas que representan las instituciones sociales, como lo son los/as profesionales de la salud. En este artículo abordamos el potencial rol de la psicología para servir como vehículo de reconstrucción de dichas nociones, tomando en consideración su propio rol en la formación y mantenimiento de dicho sujeto socialmente deseable.

[Comparative study of the diagnostic contribution of C-terminal and medio-regional determination of parathyroid hormone in man].

In this study, we compared serum parathyrin radioimmunoassay values obtained with three commercially available kits in a series of normal subjects, patients on dialysis, patients with primary hyperparathyroidism and with hypercalcemia due to malignancy. The calcium of these subjects was simultaneously evaluated. Two of these three kits measure two different C-terminal portions of the molecule and the third the mid region of PTH. The Behring and Byk kits were most efficient in that the results were obtained rapidly. The mid region assay is not more contributive than the C-terminal assays. Among these, the Behringer kit seems to produce the best diagnostic discrimination when the PTH and calcium are coupled. As far as the diagnostic specificity is considered, the latter kit seems however less efficient than the two others.

[B-type brain natriuretic peptide as marker of hemodynamic overload of the patent ductus arteriosus in the preterm infant].

Introducción: El ecocardiograma es el método de referencia para el diagnóstico del conducto arterioso permeable (CAP) hemodinámicamente significativo (CAP-hs) del recién nacido prematuro (RNP). El péptido natriurético tipo B (BNP) puede ser útil en el diagnóstico y el manejo del CAP-hs. Objetivo: Evaluar la utilidad del BNP como marcador de sobrecarga hemodinámica del conducto arterioso permeable en el RNP con edad gestacional < 32 semanas o peso < 1500 gramos, e identificar el mejor punto de corte para los valores de BNP que mejor prediga un CAP con repercusión hemodinámica que requiera tratamiento farmacológico o quirúrgico. Método: Estudio retrospectivo, observacional y descriptivo de RNP < 32 semanas de gestación o peso < 1500 gramos en los que se realizó ecocardiograma y determinación del BNP. Análisis de muestra global y por subgrupos, en función del CAP-hs. Resultados: Se analizaron 29 pacientes. Se encontró una correlación significativa entre la relación CAP/peso y los valores del BNP (prueba de Spearman: 0.71; intervalo de confianza del 95%: 0.45-0.87; p < 0.001). El mejor punto de corte del BNP para predecir CAP-hs fue 486.5 pg/ml, con una sensibilidad del 81% y una especificidad del 92% (p < 0.001). Conclusión: El punto de corte del BNP identificado en el presente estudio se correlacionó con la presencia de CAP-hs.

[Usefulness of genetic tests in familial hypocalciuric hypercalcemia with atypical clinical presentation].

Biochemical tests related to calcium and phosphorus metabolism have traditionally been considered as a reliable tool to differentiate familial hypocalciuric hypercalcemia (FHH) from primary hyperparathyroidism (PHPT). However, diagnosis may sometimes be difficult even for experienced clinicians. Our objective was to assess the accuracy of diagnostic tests in FHH and the circumstances in which genetic studies are required. A descriptive study was conducted of two families with hypercalcemia and suspected atypical FHH. Urinary calcium excretion was measured in 24-hour urine using different tests (calcium excretion (CE), urinary calcium/creatinine clearance ratio (UCCR)), and serum PTH and 25-hydroxyvitamin D levels were tested. Index cases underwent genetic study. One patient from the first family showed overt, persistent hypercalciuria with values more consistent with PHPT than with FHH if we consider, as proposed by guidelines, a UCCR lower than 0.01 as diagnostic of FHH and a value higher than 0.02 as diagnostic of PHPT. The index case of the second family underwent surgery for a parathyroid adenoma. Both cases had a mutation c. 164C>T (Pro55Leu) in exon 2 in heterozygosis. According to current clinical guidelines, definitive diagnosis of FHH requires genetic confirmation, which allowed in our case for detection of two families with FHH and atypical clinical presentations. We think that rational use of genetic tests may avoid unnecessary surgery and excess monitoring costs.

[Hallazgos clínicos y epidemiológicos en la neurofibromatosis tipo 1 y el complejo esclerosis tuberosa en una serie de pacientes pediátricos].

La neurofibromatosis tipo 1 (NF1) es una entidad genética con una incidencia de 1 entre 2,500 a 3,500 nacimientos. Por su parte, el complejo esclerosis tuberosa (CET) presenta una incidencia de 1 entre 6,000 a 10,000 nacimientos. Ambas entidades neurocutáneas cursan con un patrón de herencia autosómico dominante, expresividad variable y la morbimortalidad se encuentra asociada a complicaciones multisistémicas. El objetivo de este trabajo fue exponer las características clínicas y epidemiológicas de una serie de pacientes pediátricos con diagnóstico de NF1 y CET atendidos en la Unidad de Genética Médica de la Universidad de Los Andes. Este trabajo corresponde a una serie de casos de pacientes menores de 16 años atendidos en un período de 11 años, que cumplan con los criterios diagnósticos de NF1 y CET según los consensos para cada entidad. Se estudiaron 89 pacientes, 73 con NF1 y 16 con CET. Presentaron dos criterios para NF1, 58 (79.45%) pacientes, y las máculas café con leche fueron las más frecuentes y presentes en todos los casos; 10 pacientes (62.50 %) presentaron dos criterios mayores para el CET, y las máculas hipocrómicas estuvieron igualmente presentes en todos los casos. Este estudio muestra la forma de presentación clínica de las dos entidades neurocutáneas más frecuentes. Se discuten los criterios diagnósticos con el objeto de identificarlos a edades más tempranas y poder brindar una evaluación médica interdisciplinaria, tratamiento y un oportuno asesoramiento genético familiar. Neurofibromatosis type 1 (NF1) is a genetic entity with an incidence of 1 in 2,500 to 3,500 births. Tuberous sclerosis complex (TSC) has an incidence between 1 in 6,000 to 10,000 births. Both neurocutaneous entities present an autosomal dominant inheritance pattern, variable expressivity and their morbidity and mortality is associated with multisystemic complications. The aim of this study was to present the clinical and epidemiological characteristics of a series of pediatric patients diagnosed with NF1 and TSC, who were treated in the Medical Genetics Unit of the Universidad of Los Andes. This work corresponds to a series of cases of patients under 16 years of age served in a period of 11 years, who met the diagnostic criteria of NF1 and CET according to the consensus for each entity. We studied 89 patients, 73 with NF1 and 16 with TSC. 58 (79.45%) of the patients presented two criteria for NF1, with café-au-lait macules being the most frequent and present in all cases. 10 (62.50%) of the patients presented two major criteria for TSC; hypochromic macules were equally present in all cases. This study shows the clinical presentation of the two most frequent neurocutaneous entities. Diagnostic criteria are discussed in order to perform them at younger ages and to provide an interdisciplinary medical evaluation, treatment and timely family genetic counseling.

[Comparison of the intact PTH test with the total PTH test in hemodialyzed patients].

We measured PTH by intact PTH assays (iPTH) and whole PTH kit. iPTH includes 1-84 PTH (CAP) and the PTH antagonist fragment (CIP). The CAP/CIP ratio more precisely indicates the net relative actions of the agonist PTH (CAP) and the antagonist PTH fragment (CIP). The CAP/CIP ratio > 1 identifies patients with normal or high bone turnover disease, and the CAP/CIP ratio < 1 indicates patients with adynamic low bone turnover disease. Serum samples were obtained from 98 hemodialysis patients. We measured iPTH with intact PTH assay (PTH, intact Elecsys Systeme, Roche), and whole PTH with Duo PTH Assay (Scantibodies Laboratories, Santee, CA, USA), which determine human whole PTH or Cyclase Activating PTH (CAP) as well as total immunoreactive PTH (the sum of 1-84PTH and N truncated PTH fragments). Cyclase inactive PTH (CIP) is an inactive fragment 7-84 PTH and is calculated as total PTH--CAP. For the evaluation of bone turnover, the activity of serum alkaline phosphatase (AP) was determined by the method standardized according to IFCC. The adenosine monophosphate (AMP) buffer, reagents by LEK (Boehringer), and the Technicon RA-XT device were used. Mean intact PTH = 578 +/- 767 pg/ml; CAP = 332 +/- 366 pg/ml; total PTH = 518 +/- 560 pg/ml; mean AP = 1.9 + 2.9 mukat/l; CAP/CIP ratio < 1 was found in 9 patients. Mean CAP in these patients was 71 +/- 42 pg/ml; total PTH = 172.6 +/- 104.8 and intact PTH = 150 +/- 65 pg/ml; AP = 0.8 +/- 0.2 mukat/l. It is known that patients with adynamic bone disease have intact PTH below 200 pg/ml, and our next step will be to evaluate with bone biopsy whether patients with CAP/CIP ratio actually have adynamic bone disease.

Single-dose systemic methotrexate vs expectant management for treatment of tubal ectopic pregnancy: a placebo-controlled randomized trial.

Methotrexate is used routinely worldwide for the medical treatment of clinically stable women with a tubal ectopic pregnancy. This is despite the lack of robust evidence to show its superior effectiveness over expectant management. The aim of our multicenter randomized controlled trial was to compare success rates of methotrexate against placebo for the conservative treatment of tubal ectopic pregnancy. This study took place in two early-pregnancy units in the UK between August 2005 and June 2014. Inclusion criteria were clinically stable women with a conclusive ultrasound diagnosis of a tubal ectopic pregnancy, presenting with a low serum beta human chorionic gonadotropin (β-hCG) level of < 1500 IU/L. Women were assigned randomly to a single systemic injection of either 50 mg/m<sup2</sup methotrexate or placebo. The primary outcome was a binary indicator for success of conservative management, defined as resolution of clinical symptoms and decline of serum β-hCG to < 20 IU/L or a negative urine pregnancy test without the need for any additional medical intervention. An intention-to-treat analysis was followed. We recruited a total of 80 women, 42 of whom were assigned to methotrexate and 38 to placebo. The arms of the study were matched in terms of age, ethnicity, obstetric history, pregnancy characteristics and serum levels of β-hCG and progesterone. The rates of success were similar for the two study arms: 83% with methotrexate and 76% with placebo. On univariate analysis, this difference was not statistically significant (χ<sup2</sup (1 degree of freedom) = 0.53; P = 0.47). On multivariate logistic regression, the serum level of β-hCG was the only covariate found to be significantly associated with outcome. The odds of failure increased by 0.15% for each unit increase in β-hCG (odds ratio, 1.0015 (95% CI, 1.0002-1.003); P = 0.02). In 14 women presenting with serum β-hCG of 1000-1500 IU/L, the success rate was 33% in those managed expectantly compared with 62% in those receiving methotrexate. This difference was not statistically significant and a larger sample size would be needed to give sufficient power to detect a difference in the subgroup of women with higher β-hCG. In women with successful conservative treatment, there was no significant difference in median β-hCG resolution times between study arms (17.5 (interquartile range (IQR), 14-28.0) days (n = 30) in the methotrexate group vs 14 (IQR, 7-29.5) days (n = 25) in the placebo group; P = 0.73). The results of our study do not support the routine use of methotrexate for the treatment of clinically stable women diagnosed with tubal ectopic pregnancy presenting with low serum β-hCG (< 1500 IU/L). Further work is required to identify a subgroup of women with tubal ectopic pregnancy and β-hCG ≥ 1500 IU/L in whom methotrexate may offer a safe and cost-effective alternative to surgery. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd. Comparación entre una sola dosis de metotrexate sistémico y la conducta expectante en el tratamiento de casos de embarazo ectópico tubárico: un ensayo aleatorio controlado con placebo RESUMEN OBJETIVO: El metotrexate se utiliza de modo rutinario en todo el mundo para el tratamiento de las mujeres clínicamente estables con un embarazo ectópico tubárico. Esto sucede a pesar de la falta de evidencia rigurosa que demuestre que su eficacia es superior a la conducta expectante. El objetivo de este ensayo controlado aleatorio multicéntrico fue comparar las tasas de éxito del metotrexate con las de un placebo para el tratamiento cauteloso del embarazo ectópico tubárico. MÉTODOS: Este estudio se llevó a cabo en dos clínicas de control de gestación temprana en el Reino Unido entre agosto de 2005 y junio de 2014. Los criterios de inclusión fueron mujeres clínicamente estables con un diagnóstico ecográfico concluyente de embarazo ectópico tubárico, las cuáles presentaban una concentración sérica baja de la β hormona coriónica gonadotrópica (β-hCG) inferior a 1500 UI/L. Las mujeres fueron asignadas aleatoriamente a una sola inyección sistémica de 50 mg/m2 de metotrexate o a placebo. El resultado primario fue un indicador binario del éxito del tratamiento conservador, definido como la resolución de los síntomas clínicos y la disminución en el suero de la β-hCG a <20 UI/L o una prueba de embarazo negativa en orina sin la necesidad de ninguna intervención médica adicional. Se hizo un análisis por intención de tratar. Se reclutó un total de 80 mujeres; a 42 de ellas se les asignó el metotrexate y a 38 el placebo. Los grupos del estudio se realizaron en función de la edad, el origen étnico, los antecedentes obstétricos, las características del embarazo y los niveles séricos de la β-hCG y la progesterona. Las tasas de éxito fueron similares para los dos grupos de estudio: 83% con metotrexate y 76% con placebo. En el análisis univariante, esta diferencia no fue estadísticamente significativa (χ2 (1 grado de libertad) = 0,53; P = 0,47). En la regresión logística multivariante, el nivel sérico de la β-hCG fue la única covariable que se encontró significativamente asociada con el resultado. Las probabilidades de fracaso aumentaron en un 0,15% por cada unidad de aumento de la β-hCG (cociente de probabilidad 1,0015 (IC 95%, 1,0002-1,003); P = 0,02). La tasa de éxito en las 14 mujeres con un nivel sérico de la β-hCG de 1000-1500 UI/L fue del 33% en las tratadas con conducta expectante frente al 62% en las que recibieron metotrexate. Esta diferencia no fue estadísticamente significativa, por lo que se necesitaría un tamaño de muestra mayor, lo suficiente como para poder detectar diferencias en el subgrupo de mujeres con una β-hCG más elevada. En las mujeres en las que el tratamiento conservador tuvo éxito, no hubo una diferencia significativa en la mediana de los tiempos de resolución de la ß-hCG entre los grupos del estudio (17,5 (amplitud intercuartílica (IQR), 14-28,0) días (n = 30) en el grupo de metotrexate frente a 14 (IQR, 7-29.5) días (n = 25) en el grupo de placebo; P = 0,73). Los resultados de este estudio no apoyan el uso rutinario de metotrexate para el tratamiento de las mujeres clínicamente estables diagnosticadas con un embarazo ectópico tubárico que presenta un nivel sérico bajo la β-hCG (<1500 UI/L). Serán necesarios estudios adicionales para identificar un subgrupo de mujeres con embarazo ectópico tubárico y β-hCG ≥1500 UI/L para quienes el metotrexate puede ofrecer una alternativa segura y rentable en comparación con la cirugía. : : ,,。。 : 2005820146,2。,,β(beta human chorionic gonadotropin,β-hCG)<1500 IU/L。,(50 mg/m<sup2</sup )。,β-hCG<20 IU/L,。。 : 80,42,38。2、、、β-hCG。2:83%,76%。,[χ<sup2</sup (1)=0.53;P=0.47]。logistic,β-hCG。β-hCG,0.15%[,1.0015(95% CI,1.0002~1.003);P=0.02]。14β-hCG1000~1500 IU/L,33%,62%。,β-hCG。,2β-hCG(P=0.73),17.5[(interquartile range,IQR),14~28.0](n=30),14 (IQR,7~29.5)(n=25)。 : 、、β-hCG(<1500 IU/L)。,β-hCG>1500 IU/L、。.

[Usefulness of the determination of nephrogenous cyclic AMP in the diagnosis of primary hyperparathyroidism].

The analysis of nephrogenous cyclic AMP (NcAMP) has been reported to be a means of estimating parathyroid function with the advantage of being rapidly and easily performed. More specific than the analysis of urinary cyclic AMP (UcAMP), it measures biological activity of the parathyroid hormone. This study tests its use in the diagnosis of primary hyperparathyroidism (HPP) and compares the results of UcAMP with those of NcAMP. Analyses of NcAMP and parathyroid hormone were performed in a group of 21 healthy controls and two groups of hypercalcemic patients, one consisting of 12 patients with HPP and the other of 14 patients with hypercalcemia of non-parathyroid origin (HCa). It was confirmed that NcAMP is a parameter of parathyroid function, analysis of which allows the diagnosis of HPP with the same precision as analysis of the carboxyterminal plasma PTH. It has the added advantage over PTH measurements of detecting low values, thus permitting documentation of parathyroid inhibition in HCa patients.

[Not Available].

Introducción: la desnutrición intrahospitalaria se ha descrito hace más de 70 años como un problema frecuente. En México se reportan cifras de entre el 20% al 50%; sin embargo no se ha estudiado su prevalencia ni su asociación con la morbilidad y mortalidad hospitalaria.Objetivos: evaluar el estado nutricional y su relación con la morbimortalidad hospitalaria en pacientes mexicanos.Métodos: cohorte prospectiva de pacientes que ingresaron en un hospital de referencia para una estancia hospitalaria mayor de 5 días. Se capturó peso, talla, índice de masa corporal (IMC), estado nutricional de acuerdo con la valoración global subjetiva (VGS) a su ingreso y egreso hospitalario, así como diagnóstico médico, complicaciones y mortalidad. Los datos fueron analizados mediante la prueba T de Student, prueba Chi-cuadrado y prueba Exacta de Fisher.Resultados: se incluyeron 610 pacientes en total, con un promedio de edad de 50,8 ± 17,32 años, 267 mujeres (43,8%) y 343 hombres (56,2%). Del total, 154 fueron catalogados con sospecha de desnutrición o desnutrición (pacientes expuestos, 25,2%) y 456 bien nutridos (pacientes no expuestos, 74,8%), con una relación de 1 a 3. La morbilidad total de la cohorte tuvo un RR = 2,70, IC 95 % (2,06-3,55) y la mortalidad con un RR = 2,64, IC 95% (1,74-4,0), siendo ambas estadísticamente significativas (p = 0,001).Conclusiones: el diagnóstico de desnutrición al ingreso hospitalario constituye un factor de riesgo para el desarrollo de complicaciones y mortalidad. Este padecimiento al ingreso en comparación con el paciente que no presenta desnutrición incrementó el riesgo de mortalidad hasta en 2.64 veces.

[Evaluation assessment of the cut-off point of vitamin D in the population older than 64 years old].

Serum 25(OH)D(3) is the best indicator of vitamin D status, although some controversy remains regarding "normal" and "abnormal" values. The objective was to identify the 25(OH)D(3) serum concentration threshold which allows to know the 25(OH)D(3) serum levels correlated to PTH(i) increase and to describe the prevalence of hypovitaminosis D. Cross-sectional population study in subjects over 64 years of age residing in the basic healthcare areas in our hospital's area of reference. A total of 239 persons -mean age (standard deviation) 72 (5.4) years- were evaluated. Mean serum concentrations of 25(OH)D(3) and PTH(i) were 17 (7.5) ng/ml and 60.5 (26.1) pg/ml, respectively. 32% of the subjects showed an increase in the serum concentration of PTH(i) > 65 pg/ml. 96% of the cases with an increase in PTH(i) had serum concentrations of 25(OH)D(3) < or = 25.5 ng/ml. In 70% of the subjects, the serum concentration levels of 25(OH)D(3) ranged between 11 and 25 ng/ml and in 17% the levels of 25(OH)D(3) were lower than 10 ng/ml. The normal ranges for our population could correspond to levels of 25(OH)D3 > or = 25 ng/ml, with a 95% of sensibility to detect secondary hyperparathyroidism.

Ligation of the Intersphincteric Fistula Tract for High Transsphincteric Fistula Yields Moderate Results at Best: Is the Tide Turning?

Ligation of the intersphincteric fistula tract is a well-accepted and often used surgical procedure for perianal fistulas. This study aims to confirm results of the ligation of the intersphincteric fistula tract in a specialized colorectal center. This is a retrospective cohort study. This study took place in a large colorectal surgical department with a tertiary referral center for perianal fistulas. Consecutive patients were operated on with ligation of the intersphincteric fistula tract for a transsphincteric perianal fistula between 2012 and December 2018. Patients underwent ligation of the intersphincteric fistula tract. The primary outcome measured was the healing rate. The secondary outcomes measured were conversion into an intersphincteric perianal fistula, risk of recurrence, complications, and postoperative continence status. Forty-six patients were treated with a ligation of intersphincteric fistula tract procedure. All patients (100%) had preoperative imaging in their workup. Forty patients (87%) had a high transsphincteric fistula. The primary healing rate was a disappointing 17 of 46 patients (37%). The median time until failure was 4.2 months (interquartile range, 3.5-6.5). Of the failures, 16 converted to an intersphincteric fistula (55% of failures and 35% of all patients). The mean duration of follow-up in patients without a recurrence was 9.5 months (SD 11.9). Four patients (9%) were lost to follow-up. The mean Fecal Incontinence Severity Index postoperatively was only 2.35 (SD 5.7; range, 0-30). This resulted in 9 patients (20%) having a newly impaired continence status postoperatively. Continence impairment was mild in all these patients. The risk of developing a recurrence 1 year after surgery is 64.2% (95% CI, 49%-80%). This study was limited by its retrospective design and the small numbers with possible selection bias. Results with the ligation of intersphincteric fistula tract procedure were not as good as hoped. The effect on fecal continence, however, was minimal. The procedure might be more suitable for low transsphincteric fistulas. See Video Abstract at http://links.lww.com/DCR/A992. LA LIGADURA DEL TRACTO DE LA FÍSTULA INTERESFINTÉRICA PARA UNA FÍSTULA TRANSESFINTÉRICA ALTA, PRODUCE RESULTADOS MODERADOS EN EL MEJOR DE LOS CASOS: ¿ESTÁ CAMBIANDO LA MAREA?: La ligadura del tracto de la fístula interesfintérica es un procedimiento quirúrgico bien aceptado y de uso frecuente para las fístulas perianales. Confirmar los resultados de la ligadura del tracto de la fístula interesfintérica en un centro colorrectal especializado. DISEÑO:: Estudio de cohorte retrospectivo. Gran departamento de cirugía colorrectal y con centro de referencia terciaria para fístulas perianales. Pacientes consecutivos operados con ligadura del tracto de la fístula interesfintérica para una fístula perianal transesfintérica, entre 2012 y diciembre de 2018. Ligadura del tracto de fístula interesfintérica. Tasa de cicatrización, resultados secundarios: conversión a una fístula perianal interesfintérica, riesgo de recurrencia, complicaciones y estado de continencia postoperatoria. Cuarenta y seis pacientes fueron tratados con una ligadura del tracto de la fístula interesfintérica. Todos los pacientes (100 por ciento) tenían imagenología en su preparación preoperatoria. Cuarenta pacientes (87 por ciento) tenían una fístula transesfintérica alta. La tasa de cicatrización primaria fue decepcionante en 17 de 46 pacientes (37 por ciento). El tiempo medio hasta el fracaso fue de 4.2 meses (rango intercuartil 3.5-6.5). De los fracasos, 16 se convirtieron en una fístula interesfintérica (55 por ciento de los fracasos y 35 por ciento de todos los pacientes). La duración media del seguimiento en pacientes sin recurrencia fue de 9.5 meses (desviación estándar de 11.9). Se perdieron durante el seguimiento a cuatro pacientes (9 por ciento). Después de la operación, el promedio del índice de severidad de incontinencia fecal fue de solo 2.35 (desviación estándar de 5.7, rango 0-30). Esto resultó en que 9 pacientes (20 por ciento) tuvieran una continencia deteriorada postoperatoria. El deterioro de la continencia fue leve en todos estos pacientes. El riesgo de desarrollar una recurrencia a un año después de la cirugía es del 64.2 por ciento (intervalo de confianza del 95 por ciento: 49-80 por ciento). Diseño retrospectivo, números pequeños con posible sesgo de selección. Los resultados del procedimiento con la ligadura del tracto de fístula interesfintérica no fueron tan buenos como se esperaba. El efecto sobre la continencia fecal, sin embargo, fue mínimo. El procedimiento podría ser más adecuado para las fístulas transesfintéricas bajas. Vea el Resumen del video en http://links.lww.com/DCR/A992.

[Primary hyperparathyroidism: value of "intact parathormone" assay (PTH 1-84)].

In a prospective study of 20 patients with primary hyperparathyroidism the diagnostic value of the intact parathormone assay was compared with that of intermediate fragment measurement and that of nephrogenic cyclic AMP determination. In the basal state, measuring the intact parathormone is the best way of separating hyperparathyroid patients form normal subjects. During calcium infusion tests, there is good concordance between changes in intact parathormone and in nephrogenic cyclic AMP. In addition, the intact parathormone assay enables a thorough study of the relationship between ionized calcaemia and parathyroid secretion to be performed and confirms the existence, in hyperparathyroid patients, of two types of secretory response to a rise in calcaemia. Being more reliable than the measurement of a C-terminal or intermediate fragment and easier to perform than nephrogenic cyclic AMP determination, the intact parathormone assay seems to be particularly suitable for the study of primary hyperparathyroidism.

Implant of Self-Expandable Artificial Anal Sphincter in Patients With Fecal Incontinence Improves External Anal Sphincter Contractility.

External anal sphincter contractility significantly contributes to control the passage of stool. An artificial anal sphincter placed into the intersphincteric space is a safe and effective procedure to treat fecal incontinence, even if its mechanism of action has not been fully elucidated. The aim of this study was to evaluate external anal sphincter contractility changes after a self-expandable hyexpan prostheses was implanted into the intersphincteric space of the anal canal and clinical outcomes compared. This was a prospective clinical study. The study was conducted at a university teaching hospital. Consecutive patients affected by fecal incontinence for at least 6 months after failure of conservative treatment were included. All of the patients underwent 10-prostheses implantation and were examined preoperatively and postoperatively by endoanal ultrasound and anorectal manometry. Fecal incontinence symptoms were assessed by severity scores. The external anal sphincter muscle tension was calculated using a specific equation. Thirty-nine patients (34 women; median age = 68 y) were included in the study; no morbidity was registered. After a median follow-up period of 14 months, both the median maximum voluntary squeeze pressure and the median inner radius of the external anal sphincter significantly increased. A statistically significant increase of external anal sphincter muscle tension was detected. A decrease of any fecal incontinence symptom and an improvement in severity scores were observed at the last follow-up examination. The external anal sphincter contractility was significantly higher in patients reducing incontinence episodes to solid stool by >50% and improving their ability to defer defecation for >15 minutes. This was a single-center experience with a relatively small and heterogeneous sample size, patients with a potentially more severe disease because our institution is a referral center, and an absence of quality-of-life evaluation. Artificial anal sphincter implantation improved the external anal sphincter muscle tension; there was a positive correlation between its increase and the clinical outcome. See Video Abstract at http://links.lww.com/DCR/B468. ANTECEDENTES:La contractilidad del esfínter anal externo contribuye significativamente al control del paso de las heces. Un esfínter anal artificial colocado en el espacio interesfinteriano es un procedimiento seguro y eficaz para tratar la incontinencia fecal, incluso si su mecanismo de acción no se ha definido por completo.OBJETIVO:El objetivo de este estudio fue evaluar los cambios en la contractilidad del esfínter anal externo después de la implantación de una prótesis de hyexpan autoexpandible en el espacio interesfinteriano del canal anal y comparar los resultados clínicos.DISEÑO:Estudio clínico prospectivo.ENTORNO CLINICO:El estudio se realizó en un hospital universitario.PACIENTES:Pacientes consecutivos afectados por incontinencia fecal durante al menos 6 meses, tras fracaso de tratamiento conservador.INTERVENCIONES:Todos los pacientes fueron sometidos a la implantación de 10 prótesis, y fueron examinados pre y postoperatoriamente mediante ecografía endoanal y manometría anorrectal.PRINCIPALES MEDIDAS DE VALORACION:Los síntomas de incontinencia fecal se evaluaron mediante puntuaciones de gravedad. La tensión del músculo del esfínter anal externo se calculó mediante una formula específica.RESULTADOS:Treinta y nueve pacientes (34 mujeres; mediana de edad 68 años) fueron incluidos en el estudio; no se registró morbilidad. Después de un período de seguimiento medio de 14 meses, tanto la presión de compresión voluntaria máxima media como el radio interior medio del esfínter anal externo aumentaron significativamente. Se detectó un aumento estadísticamente significativo de la tensión del músculo del esfínter anal externo. En el último examen de seguimiento se observó una disminución de cualquier síntoma de incontinencia fecal y una mejora en las puntuaciones de gravedad. La contractilidad del esfínter anal externo fue significativamente mayor en los pacientes que redujeron los episodios de incontinencia a heces sólidas en más del 50% y mejoraron la capacidad para diferir la defecación durante más de 15 minutos.LIMITACIONES:Experiencia de un solo centro; tamaño de muestra relativamente pequeño y heterogéneo; pacientes con una enfermedad potencialmente más grave porque nuestra institución es un centro de referencia; ausencia de evaluación de la calidad de vida.CONCLUSIONES:La implantación del esfínter anal artificial mejoró la tensión muscular del esfínter anal externo; hubo una correlación positiva entre su aumento y el resultado clínico. Consulte Video Resumen en http://links.lww.com/DCR/B468.

[Intravenous calcitriol in the treatment of the refractory secondary hyperparathyroidism of terminal chronic kidney failure].

In advanced cases of secondary hyperparathyroidism (HPT) in terminal chronic renal failure, the oral treatment of calcitriol is not possible due to the development of hypercalcemia. It has been demonstrated that calcitriol directly inhibits the secretion of parathormone (PTH), independently of calcium. Therefore the intravenous administration of high and intermittent doses of calcitriol (ivVD) has been proposed as an alternative treatment for resistant HPT. The response of PTHi to treatment over 6 months with ivVD was evaluated in 18 patients with moderate-severe HPT resistant to the classical schedules. An important decrease was observed in the PTHi values (basal: 698 +/- 277 pg/ml, end of treatment: 272 +/- 200; p < 0.05). Alkaline phosphatase values followed a parallel course (basal: 476 +/- 286 U/l, end of treatment: 301 +/- 276 U/l, p < 0.05). Fifty-five percent of the patients presented hypercalcemia at some time (Ca > or = 11.5 mg/dl) being controlled by a decrease in the doses of calcitriol or calcium in dialysis fluid. No response was observed in 3 patients (17%) with treatment being discontinued due to presentation of uncontrollable hypercalcemia. The administration of intravenous calcitriol at high and intermittent doses is effective in a considerable number of patients with hyperparathyroidism resistant to the classical oral schedules. Its use may avoid surgical parathyroidectomy in some cases.

Contemporary management of urinary tract stone disease in children within a high volume institution in Mexico.

La urolitiasis en pacientes pediátricos es una condición de baja frecuencia, con tendencia hacia el aumento, por lo que es importante actualizar a urólogos sobre las opciones terapéuticas actuales. Describir las características clínicas, las técnicas quirúrgicas y sus resultados usadas para el tratamiento de la urolitiasis en pacientes pediátricos. El estudio incluyó todos los pacientes menores de 18 años quienes fueron tratados quirúrgicamente por litiasis urinaria desde el año 2017 al 2020, quienes poseían expedientes clínicos completos y seguimiento en el Hospital General de México. Veinte y un pacientes menores de 18 años fueron sometidos a procedimientos quirúrgicos para resolver la litiasis urinaria desde el 2017 al 2020. Los pacientes de sexo masculino fueron más afectados que pacientes del sexo femenino con una relación 3:1. El grupo de edad promedio de presentación fue mayor entre los 1-5 años de edad, la mayoría de pacientes poseían un adecuado índice de masa corporal ajustado por edad. El tracto urinario superior fue el mas afectado, solo 9% se localizó en el tracto urinario inferior, la mayoría de casos se resolvieron con técnicas mínimamente invasivas con una tasa de complicaciones de 14%, llegando al estado libre de litiasis en 90.47% de los casos. La litiasis urinaria es más común en el sexo masculino, generalmente en el grupo de edad pre-escolar. El índice de masa corporal en la mayoría de los casos se encontraba en rangos adecuados para la edad y el abordaje mínimamente invasivo fue utilizado con mayor frecuencia con 14% de complicaciones y un éxito de 90.47%. Pediatric urolithiasis is a rare condition around the world. Its presence and incidence are augmenting in developing countries, remarking the importance for urologists to keep updated to latest trends about its management. The aim of this study was to describe the clinical features and therapeutic surgical options and results for urinary tract stone disease in pediatric patients. This study included all pediatric patients who undergo surgical procedures to manage pediatric urolithiasis between 2017 and 2020 who had complete medical records and adequate follow-up in the General Hospital of México “Dr. Eduardo Liceaga.”. Twenty-one pediatric patients undergo surgical treatment for urinary lithiasis between 2017 and 2020. Males were more affected than female with a relation of 3:1. The mean age at the procedure time was between 1 and 5 years old. The majority of the patients had and adequate body mass index (BMI) according to percentile by age. The upper urinary tract was mostly affected by lithiasis, only 9% of cases were located in the lower urinary tract. The majority of cases were treated with minimal invasive techniques with 14% of complications, and success rate of 90.47%. Urinary lithiasis is more common in male, usually locates at the upper urinary tract, frequently in the group of 1-5 years old, most cases had an adequate BMI, and the most frequently used techniques are minimal invasive, with a lower rate of complications and great success.

[Adequate Ca level for dialysis patient (study on medical therapy for secondary hyperparathyroidism in dialysis patient)].

We evaluated our medical therapy of secondary hyperparathyroidism (2 degrees HPT) in dialysis patients. Ten hemodialysis patients with 2 degrees HPT (PTH-C; higher than 10ng/ml) were treated with vitamin D3, large amounts of phosphate binders and calcitonin and data over three years were examined. Our data showed that 2 degrees HPT is manageable by medical therapy. Furthermore, we suggest that the adequate Ca level for dialysis patients is to maintain the Ca (mEq/1) xP (mg/dl) at less than = 35. When plasma P is less than 6mg/dl. The maintenance of this Ca level successfully treated 2 degrees HPT, and this prevent the appearance of renal osteodystrophy (ROD) in dialysis patients.

[Manejo quirúrgico del divertículo de Zenker].

Los divertículos de Zenker son los divertículos más frecuentes del esófago. El tratamiento quirúrgico más utilizado es la diverticulectomía con miotomía del cricofaríngeo abierta. En años recientes se ha propuesto el tratamiento endoscópico. Presentar la experiencia en el manejo de esta patología en un hospital de referencia. Fueron revisados los expedientes de los pacientes intervenidos quirúrgicamente por divertículo de Zenker en un periodo de 7 años. Los datos obtenidos incluyeron demográficos, cuadro clínico, abordaje diagnóstico, hallazgos transoperatorios y evolución posoperatoria. Fueron intervenidos 10 pacientes durante este periodo, con una edad promedio de 64 años (± 8); siete de ellos eran hombres. Los principales síntomas fueron regurgitación y disfagia, presentes en ocho y siete pacientes, respectivamente. Los estudios diagnósticos incluyeron endoscopia (nueve pacientes), esofagograma (seis pacientes) y manometría esofágica (tres pacientes). El tratamiento utilizado en todos los casos fue diverticulectomía con miotomía del cricofaríngeo. Las complicaciones incluyeron perforación esofágica transoperatoria (un paciente) y fístula esofágica (un paciente). Hubo resolución de los síntomas en nueve pacientes; el paciente restante ameritó nueva miotomía seis meses después, con una adecuada evolución. No hubo ninguna muerte. La diverticulectomía con miotomía del cricofaríngeo es un tratamiento quirúrgico seguro para los pacientes con divertículo de Zenker. Zenker’s diverticulum represents the most common diverticulum of the esophagus. The standard surgical treatment consists of open cricopharyngeal myotomy with diverticulectomy. In recent years endoscopic treatment has been proposed. We present the surgical experience of this disease in a referral hospital. We reviewed the clinical records of all patients submitted to open surgical treatment for Zenker’s diverticulum in a 7-year period. The retrieved information included demographic data, clinical manifestations, diagnostic approach, surgery findings and postoperative evolution. During this period 10 patients were submitted to open surgical treatment; the mean age was 64 (± 8) years and seven of them were male. The main complaint was regurgitation and dysphagia that was present in eight and seven patients respectively. Diagnostic studies included endoscopy (nine patients), esophagogram (six patients) and esophageal manometry (three patients). All underwent open cricopharyngeal myotomy with diverticulectomy. Complications included intraoperative esophageal perforation (one patient) and postoperative esophageal fistula (one patient). Resolution of the symptomatology occurred in 9 patients, the other patient required a new myotomy six months later with good results. There was no mortality. Cricopharyngeal myotomy with diverticulectomy is a safe option for patients with Zenker’s diverticulum.

[Performances of two kits for parathyroid hormone-related peptide (PTHrP) assay in the additional study of malignant hypercalcemias].

Measurement of parathyroid hormone-related peptide (PTHrP) associated with that of parathyroid hormone, allows to establish, in most cases, diagnosis of hypercalcemia of malignancy and more exactly of patients with Malignancy Humoral Hypercalcemia (MHH). Because of the variety of molecular forms of PTHrP, linked to its catabolism, its immunoassay remains difficult. After a study evaluating the methodological reliability, we measured the contribution of PTHrP to the hypercalcemia by 2 assays: a N-terminal RIA and a 1-72 IRMA in samples from 47 control subjects, 10 patients with chronic renal failure (IRC), 13 patients with primary hyperparathyroidism (HPT), and 48 patients with solid tumors classified by their level of calcemia: 48 normocalcemia and 23 hypercalcemia. We noted a strong correlation (r = 0.92) between the two assays. They do not show increases in renal insufficiency; they have a good diagnostic discrimination between HPT, normal subjects and patients with MHH. Elevated levels of PTHrP are similar in both assays. However, IRMA appears to be more sensitive and more practical than RIA. Moreover, it shows the best correlation between serum calcium and phosphorus in patients with MHH.

[Histiocitosis de células de Langerhans con compromiso vertebral].

La histiocitosis de células de Langerhans (HCL) es un trastorno histiocítico raro y su incidencia exacta se mantiene desconocida; se ha diagnosticado en todos los grupos de edad, pero es más común en los primeros 3 años de vida. Se caracteriza por lesiones únicas o múltiples de tipo osteolítico causadas por proliferación clonal de células histológicamente similares a las células de Langerhans; su presentación clínica es heterogénea. Presentamos el caso de una paciente de sexo femenino de 7 años, con dificultad para la marcha y debilidad progresiva en los miembros inferiores de 5 días de evolución. A la exploración física presenta hallazgos concordantes con síndrome piramidal e hipoestesias de miembros inferiores. Se realizó resonancia magnética (RM) de columna y tomografía computarizada de cráneo simple, que descartó patología intracraneal. En la RM de columna se detectó vertebra plana con extensión epidural y paravertebral, por lo que se inició manejo con esteroides y se indicó descompresión quirúrgica. Se realizó resección parcial y biopsia de la lesión. Debido a los hallazgos histológicos y la presencia de marcadores positivos para CD1a y CD207, se confirmó el diagnóstico de HCL. La HCL es una enfermedad poco frecuente y de difícil diagnóstico por su presentación heterogénea. El granuloma eosinofílico y la vértebra plana como hallazgos imagenológicos pueden orientar el diagnóstico, aunque siempre se debe confirmar histológicamente. Langerhans cell histiocytosis (LCH) is a rare disease, more common in the first three years of life. It is characterized by single or multiple osteolytic lesions due to clonal proliferation of cells histologically similar to Langerhans cells; its clinical presentation is heterogeneous. 7-year-old female patient with 5 days of progressive lower extremity weakness and difficulty to walk. Physical exam findings were consistent with pyramidal syndrome and lower extremities hypoesthesia. Magnetic resonance imaging (MRI) of spine and cranial computed tomography (CT) were performed. Intracranial pathology was ruled out. The MRI findings showed vertebra plana with epidural and paravertebral involvement, so treatment with steroids and surgical decompression initiated. Partial resection and biopsy of the lesion was performed. Due to histological findings and positive CD1a and CD207 markers, diagnosis of LCH was confirmed. LCH is an uncommon disease with a challenging diagnosis due to its heterogeneous clinical presentation. Eosinophilic granuloma and vertebra plana as imaging findings may guide the diagnosis. However, it should always be confirmed with histological evidence.

[Advantages of the determination of parathyroid hormone (PTH) intraoperatively in hyperparathyroidism surgery].

To evaluate the utility of rapid or turbo intraoperative parathyroid (PTH) assay in the surgery of hyperparathyroidism. Since 2000 to july 2004 we have used this test on 39 patients. 24 of them corresponded to primary hyperparathyroidisms and 15 to secondary forms. Our results showed a PTH decreasing percentage >70% at 15 minutes in 92.3% of the cases. Only in two patients (5.1%) persisted the hypercalcemia after the surgery and one was reoperated with good clinic evolution. As advantages we stand out the reduction of surgical time, permitting unilateral parathyroid exploration instead a bilateral in primary HPT, and the prediction of success by confirming the excision of all hyperfunctionating parathyroid tissue in patients with multiple gland hyperplasia.