123rc/medical_text huggingface dataset:
Quantifying language development from birth to 3 years using the Early Language Milestone Scale. A point-scoring technique for the Early Language Milestone Scale is described. Normative data based on the original 1982 cross-sectional sample and validation data based on a separate longitudinal sample are presented. Mean Early Language Milestone Scale point scores, standard deviations, and percentile equivalents for raw point scores are presented for all ages from birth to 36 months. Correlations between point scores on the Early Language Milestone Scale and scores on other standardized developmental tests such as the Stanford-Binet Intelligence Scale, the Peabody Picture Vocabulary Test, and the Illinois Test of Psycholinguistic Abilities are presented. The clinical and research advantages of this point-scoring technique are presented and compared with the original pass/fail scoring method.
Rhodopsin mutants that bind but fail to activate transducin. Rhodopsin is a member of a family of receptors that contain seven transmembrane helices and are coupled to G proteins. The nature of the interactions between rhodopsin mutants and the G protein, transduction (Gt), was investigated by flash photolysis in order to monitor directly Gt binding and dissociation. Three mutant opsins with alterations in their cytoplasmic loops bound 11-cis-retinal to yield pigments with native rhodopsin absorption spectra, but they failed to stimulate the guanosine triphosphatase activity of Gt. The opsin mutations included reversal of a charged pair conserved in all G protein-coupled receptors at the cytoplasmic border of the third transmembrane helix (mutant CD1), replacement of 13 amino acids in the second cytoplasmic loop (mutant CD2), and deletion of 13 amino acids from the third cytoplasmic loop (mutant EF1). Whereas mutant CD1 failed to bind Gt, mutants CD2 and EF1 showed normal Gt binding but failed to release Gt in the presence of guanosine triphosphate. Therefore, it appears that at least the second and third cytoplasmic loops of rhodopsin are required for activation of bound Gt.
Chronic neutropenia during childhood. A 13-year experience in a single institution. To evaluate the clinical course and characteristics of children with chronic neutropenia, we reviewed the charts of all such patients seen at our center during a 13-year period. A total of 50 patients with chronic neutropenia were identified. Three patients had documented congenital neutropenia, and two siblings had cyclic neutropenia. The remaining 45 children had chronic neutropenia of unknown origin. All children except two had a remarkably benign course despite markedly reduced granulocyte counts. Of six girls in this group who had abscess or cellulitis of the labia majora, it was a presenting manifestation in three. Resolution of neutropenia was documented in 23 (62%) of 37 patients for whom follow-up information was available, with a median duration of neutropenia of 19 months. No differences were evident between patients with positive antineutrophil antibody test results and those in whom the test yielded negative results or was not performed. Chronic neutropenia in childhood is a relatively uncommon entity, characterized by a benign course and eventual resolution in the majority of patients.
Anterior femoral cutaneous nerve injury following femoral artery reconstructive surgery. Two cases are presented exhibiting symptoms and signs of bilateral anterior femoral cutaneous nerve injury, clinically sparing femoral nerve branches to the saphenous nerve and quadriceps muscles. This occurred following surgical dissection in the femoral triangles associated with femoral artery reconstructive surgery. Anterior femoral cutaneous nerve injury should be considered when anterior medial thigh pain and numbness occur following aortofemoral bypass graft surgery and other types of femoral artery reconstructive surgery.
In vivo leukocyte migration in arthritis. We quantitated in vivo migration of neutrophils into the knees of patients with rheumatoid arthritis (RA) and osteoarthritis, using 99mtechnetium-hexamethyl-propylene-amineoxime-labeled leukocytes and gamma scintigraphy. Significant neutrophil migration occurred in patients with RA irrespective of disease duration, and it was reduced by 60% following intraarticular steroid injection. The reduction in neutrophil migration correlated with reduction in pain. Leukocyte migration into osteoarthritic joints was also demonstrated, although it was much less than that seen in rheumatoid joints. No significant leukocyte migration into the joints of patients without arthritis was demonstrated. This technique appears to provide a sensitive method for quantitatively assessing the neutrophil component of inflammation in individual joints of patients with arthritis.
Symptoms of achalasia in young women mistaken as indicating primary anorexia nervosa. The case of a young women with dysphagia, regurgitation, and weight loss, who was diagnosed as having anorexia nervosa but in whom reevaluation showed that achalasia was causing the symptoms, is presented together with related observations. Misinterpretation of esophageal symptoms may occur not only as a consequence of inadequate history taking and of being biased by a patient's emaciation, age, and gender, which leads to view certain aspects of the patient's history and behavior as suggesting a pathologic attitude towards eating and body weight, but also as a consequence of a misinterpretation of the symptoms as indicative of an eating disorder by the patients themselves. In some cases a disordered attitude toward eating and body weight may develop together or coexist with achalasia. The clinical evaluation of patients with symptoms suggestive of anorexia nervosa but also of bulimia nervosa should include the taking of a thorough history regarding swallowing and vomiting in order to recognize a possible esophageal motor disorder.
Calcium ionophore, A23187, induces commitment to differentiation but inhibits the subsequent expression of erythroid genes in murine erythroleukemia cells. Murine erythroleukemia (MEL) cells are a useful model for studying the processes that regulate erythroid differentiation because exposure of these cells to a variety of chemical inducing agents results in expression of erythroid-specific genes and the resultant loss of cellular immortality. Previously it has been suggested that the calcium ionophore, A23187, has effects on the early cellular events that lead to the commitment of these cells to differentiation, but was not in itself sufficient to induce differentiation. We demonstrate here that A23187, as well as another calcium ionophore, ionomycin, are capable of inducing commitment to differentiation. Unlike other inducing agents, continual exposure to A23187 inhibits transcription of the erythroid-specific genes, beta-globin and Band 3. This effect is not attributable to an increase in cytosolic calcium concentration, because cells induced by ionomycin produce normal amounts of hemoglobin. These effects of A23187 on MEL cells confirm that commitment to differentiation is a distinct event from the subsequent transcriptional activation of erythroid genes. The ability of both ionophores to induce commitment to differentiation suggests that an increase in cytosolic calcium can trigger commitment to differentiation. These agents should prove useful in investigating the cellular processes that are responsible for commitment to differentiation.
Obesity, glucose intolerance, hyperinsulinemia, and response to antihypertensive drugs. Responsiveness to antihypertensive medications was investigated cross-sectionally in 559 individuals comprising all treated hypertensive patients identified within a representative sample (n = 3,532, aged 40-70 years) of the Jewish population in Israel. A rate of dosage score (a summed ranking of dosages of all drugs taken) of two or more increased significantly with increasing levels of body mass index (BMI) from 37.5% in levels less than 23, 54.9% in levels 23.0-29.9, and 76.4% in levels of 30 or greater (p less than 0.0001). Multivariate analyses, adjusting for age, gender, arm circumference, and ethnic group, confirmed the independent effect of BMI on dosage score (p less than 0.001). At each level of dosage score, mean blood pressure levels were equivalent at all levels of BMI after adjusting for potential confounders. This indicates that achieved blood pressure level and not BMI itself was the main determinant of the higher dosing regimens prescribed at higher levels of BMI. In representative subgroups, glucose tolerance (n = 372) and hyperinsulinemia (n = 190) were determined and were found to be positively associated with a dosage score of two or more (p less than 0.05) independently of BMI. These effects could not be accounted for by poor compliance or by altered drug absorption or disposition since overnight urinary drug excretion and plasma drug concentrations 2 hours after ingestion, measured in 80 randomly selected patients from the study group, were not different across BMI categories at similar dosages.
Maternal and fetal complications in pregnant women with systemic lupus erythematosus. Recent studies provide important insights into maternal complications in patients with systemic lupus erythematosus (SLE) established before onset of pregnancy. Exacerbations or relapse occur during the course of pregnancy and immediately postpartum in 25% to 60% of pregnancies. However, the likelihood of increased clinical activity of SLE during pregnancy is influenced by signs of activity present at onset of pregnancy. In the absence of signs of clinical activity for at least 6 months before conception, relapses occur in about one third, whereas in patients with clinical activity at onset of pregnancy, persistent activity or exacerbations occur in approximately two thirds. Fetal survival in these patients parallels the incidence of SLE activity: 85% to 95% in the group with inactive disease at conception and 50% to 80% in subjects with active disease at onset of pregnancy. The introduction of an assay for anticardiolipids has led to a new concept for the pathogenesis of autoimmune disease, namely immune-related thrombosis. Recent studies suggest that this mechanism may play an important role in clinical episodes in SLE, involving late fetal death and maternal arterial and venous thrombosis.
Long-term visual outcome in patients with optic nerve pit and serous retinal detachment of the macula Serous detachment of the macula is a well-known complication in patients with an optic nerve pit. Despite the many descriptions of this condition and possible treatment options, the long-term natural history is not well known. The authors identified 15 eyes of 15 consecutive patients seen over 21 years who were diagnosed with a serous detachment of the macula arising from an optic nerve pit. Average length of follow-up was 9 years. Twelve eyes lost three or more lines of vision, two eyes remained unchanged, and only one eye improved. All of the 12 eyes losing three or more lines of vision experienced this decrease within the first 6 months of follow-up. Although only two patients had a visual acuity of 20/200 or less initially, 12 of 15 patients had a visual acuity of 20/200 or less at the time of their last examination. The appearance of the macula at last examination included cystic changes of the neurosensory retina, full-thickness hole formation, retinal pigment epithelial mottling, and lamellar hole formation in the outer retinal layer. The long-term visual prognosis in patients with optic nerve pit and untreated serous retinal detachment of the macula is poor, and visual loss occurs within 6 months of the serous detachment.
1990 Volvo Award in clinical sciences. Lumbar spinal pathology in cadaveric material in relation to history of back pain, occupation, and physical loading. The occurrence of symmetric disc degeneration, anular ruptures, end-plate defects, vertebral body osteophytosis, and facet joint osteoarthrosis was examined radiographically and osteologically in 86 male cadavers for whom occupational, physical loading, and back pain histories were obtained from the men's families. History of back pain and the parameters of spinal pathology were related to the highest and lowest degrees of physical loading. In multivariate analyses, history of back injury was related to the occurrence of symmetric disc degeneration, anular ruptures, and vertebral osteophytosis. Symmetric disc degeneration was associated with sedentary work, and vertebral osteophytosis was related to heavy work. History of back pain was related to occupational physical loading after control for the effects of the other covariates. The results indicate that the least pathology stemmed from moderate or mixed physical loading, but the least back pain was associated with sedentary work.
Human papillomavirus in oesophageal squamous cell carcinoma. Thirty seven cases of oesophageal squamous cell carcinoma were studied by applying DNA slot blot analysis and in situ hybridisation using type specific probes for HPV 6, 11, 16 and 18. Cases of condyloma accuminata, cervical carcinoma, and laryngeal papilloma were used as controls. Blocks including areas of invasive carcinoma, intraepithelial neoplasia, and normal epithelium were studied in each case. No HPV genome was detectable in any of the oesophageal cases. It is concluded that these types of HPV do not have an association with oesophageal squamous cell carcinoma.
Biliary calcium and gallstone formation. The purpose of this paper is to present a brief overview of the current status of the field of biliary calcium and the role of calcium in the formation and maturation of gallstones. The study of free Ca+(+) ions in bile by electrochemical potentiometric measurements using Ca+(+)-selective ion-exchange electrodes is a relatively new field, but much progress has been made in the past few years. Using this powerful analytical tool, new concepts and findings have arisen in almost every aspect of biliary calcium. Although the current symposium is targeted primarily toward cholesterol gallstones, there are several areas in which understanding of biliary calcium may significantly contribute to a better understanding of the pathogenesis of cholesterol, as well as "pigment" (calcium salt), gallstones. Five broad areas are considered in relation to biliary calcium: (a) physiology (calcium entry into bile), (b) biophysics (the regulation of biliary free [Ca+(+)] as related to Gibbs-Donnan equilibria, (c) physical chemistry (the physicochemical state of calcium in bile, (d) thermodynamics (calcium solubility in bile), and (e) kinetics (pronucleating and antinucleating factors and metastable states). With more specific reference to cholesterol stones, consideration is also made of (a) the calcium salt "seed" hypothesis in cholesterol stone pathogenesis; (b) the interactions of Ca+(+) with phospholipid-cholesterol vesicles, with consideration of possible structural requirements and (c) thermodynamic and kinetic factors as related to peripheral or "eggshell" calcification of existing cholesterol stones.
Gene mapping and other tools for discovery. Genetic mapping provides a means of understanding the molecular basis of inherited diseases whose biochemistry is unknown. Adequate pedigrees, informative genetic markers, and accurate identification of the disease phenotype are necessary. For dominant inheritance, mapping studies can be done in a single large pedigree; the larger the number of affected individuals sampled the better the estimate of recombination between the gene causing the disease and one or more nearby genetic markers. For recessive inheritance, nuclear families with more than one affected sibling provide the best information. The development of many polymorphic DNA markers on the human genome has contributed to the success of mapping unknown genes because, as the genome is now densely covered with markers, the probability is good that at least one marker will be linked to the disease locus in a family that is segregating a disease allele. Most genetic markers now in use depend upon restriction fragment length polymorphisms (RFLPs), which are either the result of single-base-pair substitution or the presence of a variable number of tandemly repeated oligonucleotide units at a locus (VNTRs). RFLPs can be recognized by digesting DNA with restriction enzymes and separating the fragments by size on an electrophoretic gel. VNTRs can vary widely among individuals, and they provide more linkage information than single-site polymorphic markers because family members are more likely to be heterozygous. Genetic maps of each chromosome, constructed from linkage data relating marker loci to one another in normal reference families, permit rational choices of markers for disease-mapping studies.
The Los Angeles experience with laparoscopic cholecystectomy. Surgeons should be competent in diagnostic laparoscopy before performing laparoscopic cholecystectomy (LC). Well-structured and endorsed courses with experienced faculty are important. Within 12 months, 418 LCs were performed in our hospital. The number of open cholecystectomies decreased to one third of all cholecystectomies performed. Cholangiography was attempted routinely and the duct was successfully cannulated in 90%. Inquiries were made at 6 other hospitals within a 5-mile radius where a total of 220 LCs were performed. The following gray areas need to be addressed: patients with slightly increased liver function tests but no jaundice, and unsuspected stones discovered by cholangiography. New projects are in progress to explore the common bile duct via the cystic duct or directly through the common bile duct with insertion of a T tube. The authors recommend proper training as well as caution and sound judgment before commencing with LC.
Complete spontaneous regression of multiple basal cell carcinomas in the basal cell nevus syndrome: the possible role of transepithelial elimination. A 36-year-old Latin American man with the basal cell nevus syndrome had multiple, soft, hairless, depressed scars of the face, scalp, neck, and back, ranging in size from 0.3 x 0.5 cm to 3.5 x 3.9 cm. These areas had never been treated and previously were sites of basal cell carcinomas that underwent complete spontaneous regression 4-5 years from the date of onset. Pathology of these spontaneously regressed sites was consistent with the criteria established by Curson and Weedon (1979). Type III transepithelial elimination was demonstrated for a basal cell carcinoma. Type III transepithelial elimination may play a role in the spontaneous regression of basal cell carcinomas.
MR imaging of blood-borne liver metastases in mice: contrast enhancement with Fe-EHPG. To determine whether iron(III)ethylenebis-(2-hydrophenylglycine) (Fe-EHPG), a prototype hepatobiliary magnetic resonance imaging agent, can enhance the liver-to-tumor contrast-to-noise ratio (C/N) in models of liver tumors in mice, two types of cell inoculation were used: intrahepatic implantation of M5076 sarcoma and intrasplenic injection of colon tumor (C-26) or M5076 sarcoma. Significant enhancement of the liver-to-tumor C/N and/or improved visualization of small lesions was consistently observed on T1-weighted images obtained after injection of the contrast material. For intrahepatic implants, the C/N on postinjection T1-weighted images was superior to that on T1- and T2-weighted preinjection images. For the C-26 metastatic liver lesions of larger diameter (greater than 5 mm), the C/N on postinjection T1-weighted studies was superior to that on preinjection T1-weighted images but was comparable to that on preinjection T2-weighted images. However, higher C/N after administration of Fe-EHPG improved visualization of medium-sized (3-5 mm) and small (1-3-mm) metastatic lesions in both M5076 and C-26 models. These results demonstrate that MR imaging with appropriate hepatobiliary agents appears promising for early detection of liver metastases.
Benign missense variations in the cystic fibrosis gene. The common mutation causing cystic fibrosis is a deletion of phenylalanine 508 (delta F508), which occurs in a putative nucleotide-binding fold of the gene product. We report two additional mutations, substitution of cysteine for phenylalanine 508 (F508C) and substitution of valine for isoleucine 506 (I506V). Three compound heterozygous persons, two delta F508/F508C and one delta F508/I506V, had normal clinical and epithelial physiological studies indicating that the F508C and I506V mutations are benign. This opportunity to study the in vivo function of these mutations suggests that amino acid substitutions are more benign than changes in the length of this portion of the putative nucleotide-binding fold. These mutations must be taken into account when performing molecular diagnosis and carrier detection for cystic fibrosis.
Open depressed skull fracture missed on computed tomography: a case report. A case of an open depressed skull fracture that was missed on standard computed tomographic (CT) scan is presented. The fracture was seen on a CT generated lateral scout film, and after repositioning the gantry, further CT images clearly showed the fracture and underlying brain injury. The authors recommend that all patients with head trauma undergoing head CT have either a CT generated lateral scout film or a lateral skull radiograph to assess the vertex of the skull, an area poorly visualized on standard axial images.
Exposing patients with chronic, stable, exertional angina to placebo periods in drug trials. Because the safety of withholding standard therapy and enrolling patients with stable angina in placebo-controlled trials is not known, we identified all events leading to dropout from trials of 12 antianginal drugs submitted in support of new drug applications to the US Food and Drug Administration. Persons who dropped out of the trials were classified as cause due to adverse cardiovascular events or other causes without knowledge of drug assignment. There were 3161 subjects who entered any randomized, double-blind phase of placebo-controlled protocols; 197 (6.2%) withdrew because of cardiovascular events. There was no difference in risk of adverse events between drug and placebo groups. A prospectively defined subgroup analysis showed that groups who received calcium antagonists were at an increased risk of dropout compared with placebo groups (P = .04), primarily because of a disproportionate number of adverse events in studies of one drug. In conclusion, there were few adverse experiences associated with short-term placebo use. Withholding active treatment does not increase the risk of serious cardiac events.
Ulnar nerve decompression with medial epicondylectomy for neuropathy at the elbow. Ulnar nerve decompression with medial epicondylectomy was performed in 66 elbows between 1966 and 1986 for compressive ulnar neuropathy at the elbow. This study is an updated review that adds 36 cases to a previously published report on 30 cases. These elbows were graded preoperatively and postoperatively using McGowan's grading system. Eighty-three percent improved one or two grades, and 11% improved subjectively although they showed no objective improvement, 3% noted no change, and 3% were subjectively worse. One early case sustained damage to the ulnar collateral ligament with resultant instability. No other complications occurred. The best results were seen in the Grade I and II lesions, whereas those with Grade III lesions were the least predictable. The procedure is technically uncomplicated with minimal morbidity and reliable results.