Nutritional status and calcium levels in serum and urine of primary hypertensives and normotensives

WOS: 000259602500040This research has been designed for the determination of the nutritional status, serum and urinary calcium (UCa) levels and correlation between UCa and blood pressure (BP). 31 Volunteers' patients with essential hypertension (HT) and 31 age- and gender-matched normotensive (NT) control subjects living in Ankara and Nigde from Turkey have participated in this study. 62 Subjects' 24 h urinary samples were collected. Besides, for determination of the correlation between 24 h UCa and overnight UCa (12 h UCa), 38 urine samples (9 patients and 29 control subjects) were collected. Nutritional status was evaluated according to their food consumption and physical examination. After analyzing the collected blood and urinary samples, the mineral status was also evaluated. Urinary and serum Ca levels were determined by flame atomic adsorption spectroscopy. The mean 24 h urinary Ca excretion rates (24 h UCaV) in hypertensive and normotensive subjects were 101 +/- 69 and 128 +/- 85 mg/day, respectively (n = 62, t = 1.378, p > 0.05). The mean serum Ca levels in HT was significantly decreased when compared with the controls (n = 26, t = 2.54, p < 0.05). In NT subjects systolic blood pressure (SBP) correlated positively with diastolic blood pressure (DBP) (r = 0.588) and UCaV (r = 0.516) and negatively with dietary Ca (r = -0.617, for all p < 0.05). In NT group DBP correlated positively with body mass index (BMI) (p < 0.05). In HT subjects, SBP correlated positively with DBP (r = 0.741) and negatively with serum Ca (r = -0.633), DBP also correlated negatively with serum Ca (r = 0.727). Among the 38 subjects, overnight calcium excretion rate (12 h UCaV) was correlated with the 24 h UCaV (y = 0.8279x + 42.735, r = 0.81, R-2 0.653, p < 0.05)

Clinical and hormonal profiles correlate with molecular characteristics in patients with 11β-hydroxylase deficiency.

Background: Given the rarity of 11 beta-hydroxylase deficiency (11 beta OHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11 beta OHD) and nonclassic 11 beta OHD (NC-11 beta OHD)

Nationwide Hypophosphatemic Rickets Study

WOS: 00044520410021

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management. Objective: The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology. Design: A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded. Setting: The study was conducted in 19 tertiary pediatric endocrinology clinics. Patients: Ninety-five children (48 females, aged 0-18 y, eight familial) with PAI of unknown etiology participated in the study. Results: A genetic diagnosis was obtained in 77 patients (81\%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c. IVS3ds + 1delG in MRAP. Several important clinical and molecular insights emerged. Conclusion: This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80\% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the future