bluuebunny/crossref_metadata_2025_split huggingface dataset:
Diagnosis of Parathyroid Tumors in Familial Isolated Hyperparathyroidism with HRPT2 Mutation: Implications for Cancer Surveillance
Authors: Guarnieri Vito , Scillitani Alfredo , Muscarella Lucia Anna , Battista Claudia , Bonfitto Nazzareno , Bisceglia Michele , Minisola Salvatore , Mascia Maria Lucia , D’Agruma Leonardo , Cole David E. C. 
Published: May 2006

Abstract
Context: Mutations of the HRPT2 gene have recently been implicated in the development of parathyroid carcinoma.
Objective: The objective of this study was early diagnosis of parathyroid tumor in a family with germline HRPT2 mutation.
Patients, Methods, and Results: In a 40-yr-old male previously treated for parathyroid atypical adenoma, we screened the 17 translated HRPT2 exons and their exon-intron boundaries and found a germline frameshift mutation in exon 7 (685delAGAG) predicting a premature stop codon at nucleotides 767–769. Nine family members (age, 33.9 ± 19.8 yr, mean ± sd) also carry the mutation, but eight have had normal serum calcium. Biochemical and ultrasonographic evaluation uncovered a 27-yr-old hypercalcemic carrier niece with an atypical parathyroid adenoma, and a 43-yr-old normocalcemic carrier sister was found by ultrasonography to have an extrathyroidal nodule, which proved to be parathyroid carcinoma. The index case, 12 yr after surgery, was normocalcemic, but ultrasonography revealed an extrathyroidal nodule in the contralateral hemithyroid tissue that proved to be atypical adenoma.
Conclusions: Our report confirms that germline mutations of HRPT2 gene may be associated with multiple parathyroid neoplasms. Our experience suggests that longitudinal surveillance by serum biochemistry alone may not be 100% sensitive, and addition of routine neck ultrasonography is a readily accepted adjunct that may facilitate earlier disease detection in some families.
Timing of Puberty Determines Serum Insulin-Like Growth Factor-I in Late Adulthood
Authors: Sandhu Jat , Smith George Davey , Holly Jeff , Cole Tim J. , Ben-Shlomo Yoav 
Published: May 2006

Abstract
Context: IGFs may play an important role in disease etiology, especially cancer. Changes in diet can alter acute levels, but little is known about life course influences on IGF levels.
Objective: The objective of the study was to examine the association between timing of puberty and adulthood serum IGFs (IGF-I and IGF binding protein-3).
Design: This was a retrospective cohort study.
Setting: Male pupils who attended a single school in Southern England were part of the study.
Participants: Participants in the study were a cohort of 1028 men born between 1927 and 1956 with anthropometric measures between 9 and 18 yr and adulthood serum IGF levels.
Main Outcome Measure: The study measured serum IGF-I and IGF binding protein-3 at mean age 63 yr.
Results: Age at peak height velocity (APHV) was inversely associated with adult IGF-I levels. IGF-I decreased by 3.7 ng/ml (95% confidence interval 1.0–6.4, P = 0.007) for each sd increase in APHV. Prepubertal childhood height and body mass index were both inversely associated with APHV (P trend &lt; 0.001). APHV was positively associated with adult height and inversely associated with adult body mass index. Adjustment for childhood, adult anthropometry, and other lifestyle factors did not substantially alter the association between APHV and adult IGF-I.
Conclusions: This is the first study to document an association between timing of puberty and adult IGF-I levels. A better understanding of life course determinants of the IGF system may provide new insights into disease etiology and primary prevention.
Laparoscopic Adrenalectomy for Potentially Malignant Adrenal Tumors Greater than 5 Centimeters
Authors: Liao Chun-Hou , Chueh Shih-Chieh , Lai Ming-Kuen , Hsiao Po-Jen , Chen Jun 
Published: May 2006

Abstract
Purpose: Laparoscopic adrenalectomy (LA) is controversial for large, potentially malignant tumors. We report a series of LA or hand-assisted LA for large (&gt;5 cm) adrenal tumors.
Patients and Methods: Among 210 LAs performed in 6 yr, 39 patients had potentially malignant tumors greater than 5 cm in diameter. Their perioperative and follow-up data were retrospectively analyzed.
Results: All 39 patients had successful LAs without perioperative mortality, conversion to open surgery, or capsular disruption during dissection. The mean tumor size was 6.2 cm (range, 5–12 cm), operative time 207 min (115–315 min), and blood loss 75 ml (minimal–1400 ml). Complications included one intraoperative diaphragmatic perforation, three mild wound infections, and one pneumonia. Preoperatively there were 27 nonfunctioning tumors, seven pheochromocytomas, three cortisol-secreting tumors, and two virilizing tumors. Final pathology revealed eight malignant (four adrenocortical carcinomas and four metastatic carcinomas) and 31 benign tumors (14 cortical adenomas, eight pheochromocytomas, six myelolipomas, and three ganglioneuromas). Median follow-up was 39 months. Four patients (two adrenocortical carcinomas, one metastatic hepatoma, and one lymphoma) died 24, 10, 9, and 3 months after surgery, respectively. A hand-assisted device was used in 10 patients. Only the tumor size was larger and length of postoperative hospital stay longer for those in the hand-assisted group.
Conclusions: LA is a reasonable option for selected large adrenal tumors when complete resection is technically feasible and there is no evidence of local invasion. Hand-assisted LA is a good alternative to open conversion if a difficult dissection is encountered intraoperatively.
Ghrelin and Peptide YY in Youth: Are There Race-Related Differences?
Authors: Bacha Fida , Arslanian Silva A. 
Published: May 2006

Abstract
Objective: Obesity prevalence is higher in African-American (AA) vs. American white (AW) youth. Ghrelin is a “hunger” peptide that is high preprandially and decreases postprandially, and peptide YY (PYY) is a “satiety” hormone increasing after meals. Impaired regulation of ghrelin/PYY may be conducive to obesity. We hypothesized that racial differences in childhood obesity could partly be explained by differences in ghrelin/PYY dynamics.
Research Design and Methods: We investigated: 1) ghrelin suppression/PYY elevation in response to an oral glucose tolerance test (OGTT) in AA vs. AW, and 2) the relationship of ghrelin and PYY dynamics to insulin sensitivity. Thirty-three AA and 54 AW prepubertal children underwent an OGTT measuring ghrelin, PYY, glucose, and insulin. Fasting glucose to insulin ratio (GF/IF) was used to assess the relationship of insulin sensitivity to fasting and post-OGTT ghrelin and PYY levels.
Results: OGTT-induced suppression in ghrelin (Δ ghrelin) was lower in AA youth. Δ ghrelin correlated with GF/IF (r = 0.47, P &lt; 0.001) and Δ insulin at 30 min (r = −0.47, P &lt; 0.001). In multiple regression analysis, race (P = 0.013) and GF/IF (P = 0.004) contributed independently to the variance in Δ ghrelin (R2 = 0.28, P &lt; 0.001). Fasting and post-OGTT PYY levels were lower in AAs and were not related to insulin sensitivity.
Conclusion: The lower suppression of ghrelin in AA, but not the lower PYY levels, correlates with insulinemia and insulin resistance. Less ghrelin suppression and PYY elevation after a meal in black youth could be a potential mechanism of race-related differences in hunger/satiety predisposing to risk of obesity.
Syndromic Obesity and Diabetes: Changes in Body Composition with Age and Mutation Analysis of ALMS1 in 12 United Kingdom Kindreds with Alström Syndrome
Authors: Minton J. A. L. , Owen K. R. , Ricketts C. J. , Crabtree N. , Shaikh G. , Ehtisham S. , Porter J. R. , Carey C. , Hodge D. , Paisey R. , Walker M. , Barrett T. G. 
Published: May 2006

Abstract
Context: Alström syndrome (AS) is a monogenic form of infancy-onset obesity and insulin resistance, caused by ALMS1 mutations. The natural history of the insulin resistance is unknown, in particular how this relates to changes in body composition. It is also unclear how ALMS1 mutations relate to the characteristic phenotype.
Objectives: Our objectives were to characterize body composition and metabolic parameters, to establish ALMS1 mutation spectrum of United Kingdom AS patients, and to determine whether a genotype-phenotype correlation exists.
Design and Patients: We conducted a cross-sectional cohort study of 12 unrelated subjects with AS. Age-standardized body composition was assessed by anthropometry and dual-energy x-ray absorptiometry and insulin sensitivity by homeostasis model assessment. The exons and intron-exon boundaries of ALMS1 were directly sequenced.
Setting: The study was performed during the annual Alström Syndrome UK multidisciplinary screening clinic.
Results: AS patients have early-onset obesity, but body mass index, waist circumference, and body fat from dual-energy x-ray absorptiometry were negatively correlated with age (r = −0.37, P = 0.2; r = −0.84, P = 0.002; and r = −0.6, P = 0.05). Despite this, insulin resistance increased, demonstrated by raised fasting insulin and fall in homeostasis model assessment insulin sensitivity with age (r = −0.64, P = 0.02). ALMS1 mutations were identified in 10 of 12 patients, with a potential founder mutation in exon 16 present in five [np 10775del (C); Del3592fs/ter3597]. No genotype-phenotype correlation was observed.
Conclusions: We identified mutations in ALMS1 in more than 80% of patients with no genotype-phenotype correlation. In AS, severe childhood obesity, waist circumference, and body fat decrease with age, whereas insulin resistance increases. The abdominal obesity, insulin resistance, diabetes, hypertriglyceridemia, and hypertension suggest that AS could represent a monogenic model for the metabolic syndrome.
Self-Esteem and Social Adjustment in Young Women with Turner Syndrome—Influence of Pubertal Management and Sexuality: Population-Based Cohort Study
Authors: Carel Jean-Claude , Elie Caroline , Ecosse Emmanuel , Tauber Maïthé , Léger Juliane , Cabrol Sylvie , Nicolino Marc , Brauner Raja , Chaussain Jean-Louis , Coste Joël 
Published: May 2006

AbstractContext: Pediatric management of patients with Turner syndrome focuses on height, frequently resulting in a delay of pubertal induction. The influence of pubertal management on psychosocial adjustment and sex life has not been evaluated in Turner syndrome patients.Objective: The objective of the study was to identify the determinants of self-esteem, social adjustment, and initiation of sex life in patients with Turner syndrome, particularly those related to pubertal management.Design: This was a prospective evaluation, the StaTur study.Setting: The study was conducted with a population-based registry of GH-treated patients.Participants: Participants included 566 young adult women with Turner syndrome, aged 22.6 ± 2.6 yr (range, 18.3–31.2).Main Outcome Measures: Measures used in the study were Coopersmith’s Self-Esteem Inventory, Social Adjustment Scale Self-Report, questions on sexual experience, and extensive data on pediatric management.Results: Low self-esteem was associated with otological involvement and limited sexual experience. Low social adjustment was associated with lower paternal socioeconomic class and an absence of sexual experience. Late age at first kiss or date was associated with cardiac involvement and a lack of spontaneous pubertal development. Age at first sexual intercourse was related to age at puberty and paternal socioeconomic class. Delayed induction of puberty had a long-lasting effect on sex life. Height and height gain due to GH treatment had no effect on outcomes.Conclusions: Puberty should be induced at a physiologically appropriate age in patients with Turner syndrome to optimize self-esteem, social adjustment, and initiation of the patient’s sex life. Therapeutic interventions altering normal pubertal development in other groups of patients should be reconsidered in light of these findings.
Increased Anti-Müllerian Hormone Serum Concentrations in Prepubertal Daughters of Women with Polycystic Ovary Syndrome
Authors: Sir-Petermann Teresa , Codner Ethel , Maliqueo Manuel , Echiburú Bárbara , Hitschfeld Catalina , Crisosto Nicolás , Pérez-Bravo Francisco , Recabarren Sergio E. , Cassorla Fernando 
Published: May 2006

AbstractContext: Anti-Müllerian hormone (AMH) is produced by the granulosa cells and reflects follicular development. Adult women with polycystic ovary syndrome (PCOS) have increased levels of AMH associated with an excessive number of growing follicles. However, it is not known whether these abnormalities are present before the clinical onset of PCOS.Objective: Our objective was to investigate whether prepubertal daughters of women with PCOS have increased AMH levels.Design: Fourteen female infants (2–3 months old) and 25 prepubertal girls (4–7 yr old) born to PCOS mothers were studied. As a control group, we studied 21 female infants and 24 prepubertal girls born to mothers with regular menses and without hyperandrogenism. The group with PCOS mothers and the control group had normal birth weight and were born from spontaneous singleton pregnancies. Circulating concentrations of gonadotropins, testosterone, androstenedione, estradiol, 17-OH-progesterone, SHBG, inhibin B, and AMH were determined by specific assays.Results: Serum concentrations of AMH were significantly higher in the PCOS group compared with the control group during early infancy (20.4 ± 15.6 vs. 9.16 ± 8.6 pmol/liter; P = 0.024) and during childhood (14.8 ± 7.7 vs. 9.61 ± 4.4 pmol/liter; P = 0.007). Gonadotropin and serum sex steroid concentrations were similar in both groups during the two study periods, except for FSH, which was lower during childhood in girls born to PCOS mothers.Conclusions: We conclude that serum AMH concentrations are increased in prepubertal daughters of PCOS women, suggesting that these girls appear to show evidence of an altered follicular development during infancy and childhood.
Serum Profiles of Free and Conjugated Neuroactive Pregnanolone Isomers in Nonpregnant Women of Fertile Age
Authors: Havlíková Helena , Hill Martin , Kancheva Lyudmila , Vrbíková Jana , Pouzar Vladimír , Černý Ivan , Kancheva Radmila , Stárka Luboslav 
Published: May 2006

AbstractBackground: Pregnanolone isomers (PI) with a hydroxy group in the 3α-position are neuroinhibitors operating via positive modulation of GABAA receptors. The 3β-PI and sulfates of PI and pregnenolone exert the opposite effect. In addition to the brain’s in situ synthesis, some circulating steroids can penetrate the blood-brain barrier.Methods: To assess the physiological impact of peripheral endogenous neuroactive pregnanolone isomers and their polar conjugates in women, serum allopregnanolone (P3α5α), isopregnanolone (P3β5α), pregnanolone (P3α5β), epipregnanolone (P3β5β), pregnenolone, estradiol (including their polar conjugates), and additional steroids were measured in 16 women in the follicular and luteal phases of the menstrual cycle using gas chromatography/mass spectrometry and RIA for the analysis. Linear models and Spearman’s correlations were used for data evaluation.Results and Discussion: The levels of conjugated PI were from one to almost three orders of magnitude higher in comparison with the free steroids. The results indicate that a substantial proportion of the progesterone is metabolized in the sequence progesterone→5β-dihydroprogesterone→P3α5β→conjugated P3α5β. The sulfation of PI and particularly of P3α5β moderates the levels of free PI and restrains estradiol biosynthesis via progesterone degradation. PI including the conjugates reflected changing progesterone formation during the menstrual cycle. In the follicular phase, the positive correlation with conjugated pregnenolone, the independence of progesterone, and the negative age relationships of PI indicate their adrenal origin. The dependence on progesterone and the independence of conjugated pregnenolone suggest a gonadal source of PI in the luteal phase. The neuroactivating PI prevailed over neuroinhibiting PI.
Effect of Long-Term Calorie Restriction with Adequate Protein and Micronutrients on Thyroid Hormones
Authors: Fontana Luigi , Klein Samuel , Holloszy John O. , Premachandra Bhartur N. 
Published: May 2006

Abstract
Context: Caloric restriction (CR) retards aging in mammals. It has been hypothesized that a reduction in T3 hormone may increase life span by conserving energy and reducing free-radical production.
Objective: The objective of the study was to assess the relationship between long-term CR with adequate protein and micronutrient intake on thyroid function in healthy lean weight-stable adult men and women.
Design, Setting, and Participants: In this study, serum thyroid hormones were evaluated in 28 men and women (mean age, 52 ± 12 yr) consuming a CR diet for 3–15 yr (6 ± 3 yr), 28 age- and sex-matched sedentary (WD), and 28 body fat-matched exercising (EX) subjects who were eating Western diets.
Main Outcome Measures: Serum total and free T4, total and free T3, reverse T3, and TSH concentrations were the main outcome measures.
Results: Energy intake was lower in the CR group (1779 ± 355 kcal/d) than the WD (2433 ± 502 kcal/d) and EX (2811 ± 711 kcal/d) groups (P &lt; 0.001). Serum T3 concentration was lower in the CR group than the WD and EX groups (73.6 ± 22 vs. 91.0 ± 13 vs. 94.3 ± 17 ng/dl, respectively) (P ≤ 0.001), whereas serum total and free T4, reverse T3, and TSH concentrations were similar among groups.
Conclusions: Long-term CR with adequate protein and micronutrient intake in lean and weight-stable healthy humans is associated with a sustained reduction in serum T3 concentration, similar to that found in CR rodents and monkeys. This effect is likely due to CR itself, rather than to a decrease in body fat mass, and could be involved in slowing the rate of aging.
Comparison of Follicle-Stimulating-Hormone-Stimulated Dimeric Inhibin and Estradiol Responses as Indicators of Granulosa Cell Function in Polycystic Ovary Syndrome and Normal Women
Authors: Wachs Deborah S. , Coffler Mickey S. , Malcom Pamela J. , Chang R. Jeffrey 
Published: May 2006

Abstract
Context: Follicular phase secretion of inhibin B, like that of estradiol (E2), correlates with the quantity and quality of developing follicles. However, it has not been established whether inhibin B responses to gonadotropin stimulation parallel those of E2 as a reflection of granulosa cell functional capacity.
Objective: Our objective was to determine whether inhibin B responses to FSH stimulation are similar to those of E2 in women with polycystic ovary syndrome (PCOS) and normal women.
Design and Setting: We conducted a prospective study to compare ovarian responses in two groups of women at a general clinical research center in a tertiary academic medical center.
Patients: Women with PCOS, 18–35 yr (n = 19), and normal ovulatory controls, 18–35 yr (n = 7), were recruited for study.
Interventions: Serum samples were measured over a 24-h period after an iv injection of recombinant human FSH, 150 IU.
Main Outcome Measures: Serum E2, inhibin A, and inhibin B responses after FSH administration were assessed.
Results: In PCOS women, the 24-h production of inhibin B and E2 after FSH was significantly greater than that of normal controls. Within the PCOS group, the fold change in inhibin B was significantly greater than that of E2. Inhibin A responses between groups were similar and of markedly lower magnitude.
Conclusions: FSH-stimulated inhibin B responses may be employed to assess the functional capacity of granulosa cells in PCOS and normal women.
C-3 Epimers Can Account for a Significant Proportion of Total Circulating 25-Hydroxyvitamin D in Infants, Complicating Accurate Measurement and Interpretation of Vitamin D Status
Authors: Singh Ravinder J. , Taylor Robert L. , Reddy G. Satyanarayana , Grebe Stefan K. G. 
Published: May 2006

Abstract
Context: We have recently introduced liquid chromatography-tandem mass spectrometry (LC-MS/MS) for 25-hydroxyvitamin D2 (25OHD2) and 25OHD3 testing. During subsequent clinical use, we identified significantly elevated results in some infants. We hypothesized this might represent assay interference caused by C-3 epimers of 25OHD2 or 25OHD3.
Objective: Our aims were to 1) determine the prevalence of C-3 epimers of 25OHD2 or 25OHD3 in human serum, and 2) identify the patient populations that might be affected.
Study Design: We modified our LC-MS/MS method to allow detection of C-3 epimers. We retested specimens from four patient groups with the new method and an extracted RIA: 1) children less than 1 yr old, 2) children 1–18 yr old, 3) adults aged 20–87 yr with liver disease, and 4) adults aged 19–91 yr without liver disease.
Results: In 172 children from group 1 with detectable 25OHD2 or 25OHD3, we identified C-3 epimers in 39 (22.7%). The epimers contributed 8.7–61.1% of the total 25-OHD. There was an inverse relationship between patient age and epimer percentage (r = 0.48; P &lt; 0.002). The RIA gave accurate 25-OHD results that correlated with the modified LC-MS/MS method. No C-3 epimers were detected in any of the other groups.
Conclusions: Significant concentrations of C-3 epimers of 25OHD2 or 25OHD3 are commonly found in infants. This can lead to overestimation of 25-OHD levels. Measurements in children less than 1 yr should therefore be performed with an assay that allows accurate detection of 25-OHD in the presence of its C-3 epimers.
An Effective Route for Porous Ferrihydrite Preparation from Layered Double Hydroxide Precursors
Authors: Xia Wei , Meng Weiqing , Yu Ranbo , Xing Xianran , Wang Dan , Chen Yunfa , Takano Mikio 
Published: May 2006

Abstract
A porous ferrihydrite has been synthesized from layered double hydroxide precursors via selective extraction. The characterization results show that the porous ferrihydrite possesses not only large total pore volume but also uniform micropore size distribution, which make it exhibit a good charge/discharge capacity and cycling performance as the lithium battery cathode.
Multiplex Gene Mutation Analysis Using Affinity Capillary Electrophoresis in a Single Microfluidic Channel
Authors: Inoue Akira , Ito Toshiyuki , Sato Kae , Hosokawa Kazuo , Makino Kimiko , Maeda Mizuo 
Published: May 2006

Abstract
This communication describes a novel strategy for multiplex gene mutation analysis in a single microfluidic channel. The method is based on affinity capillary electrophoresis with multiple probes immobilized to the sieving polymer matrix. Single-step detection of two point mutations is demonstrated with a simple setup and procedure.
Enhancement of Singlet Oxygen Sensitization of Tetraphenylporphyrin by Silylation
Authors: Horiuchi Hiroaki , Tanaka Toru , Yoshimura Kimio , Sato Kenta , Kyushin Soichiro , Matsumoto Hideyuki , Hiratsuka Hiroshi 
Published: May 2006

Abstract
Photophysical and singlet oxygen sensitization processes of 5,10,15,20-tetrakis(4-trimethylsilylphenyl)porphyrin have been studied. It was found out that the quantum yield (ΦΔ) of singlet oxygen production increased by the silylation of 5,10,15,20-tetraphenylporphyrin (TPP). The silylation does not affect the photophysical processes of TPP but enhances the sensitization efficiency of singlet oxygen by the triplet sensitizer (fΔT). This enhancement can be explained by the suppression of the process from the triplet encounter complex composed of the triplet sensitizer and ground-state oxygen to the ground-state sensitizer and oxygen.
Synthesis and Photovoltaic Properties of Tetrathiafulvalene–Oligothiophene–Fullerene Triads
Authors: Kanato Hiroki , Narutaki Masashi , Takimiya Kazuo , Otsubo Tetsuo , Harima Yutaka 
Published: May 2006

Abstract
Novel tetrathiafulvalene–oligothiophene–fullerene triads have been synthesized as single-component materials for photovoltaic cells. They showed somewhat improved photovoltaic performances, when compared to the corresponding oligothiophene–fullerene dyads.