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https://www.readbyqxmd.com/read/28110291/the-best-interests-of-a-child-a-tragedy-in-three-parts-cahs-v-kiszko-anor-2016-fcwa-19-cahs-v-kiszko-anor-2016-fcwa-34-and-cahs-v-kiszko-anor-2016-fcwa-75
#1
Bernadette J Richards, Michaela E Okninski
No abstract text is available yet for this article.
January 21, 2017: Medical Law Review
https://www.readbyqxmd.com/read/28095810/neonatal-screening-for-congenital-adrenal-hyperplasia-in-southern-brazil-a-population-based-study-with-108-409-infants
#2
Cristiane Kopacek, Simone Martins de Castro, Mayara Jorgens Prado, Claudia Maria Dornelles da Silva, Luciana Amorim Beltrão, Poli Mara Spritzer
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil...
January 17, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28079380/extraordinarily-rapid-rise-of-tiny-bubbles-sliding-beneath-superhydrophobic-surfaces
#3
Cyuan-Jhang Wu, Cheng-Chung Chang, Yu-Jane Sheng, Heng-Kwong Tsao
Tiny bubbles readily stick onto substrates and remain static due to contact angle hysteresis (CAH). Nevertheless, tiny bubbles can slide slowly on a tilted surface with ultralow CAH since capillarity is overcome by buoyancy. It is surprising to observe experimentally that bubbles of 3~15 μl (diameter 1.79~3.06 mm) slide beneath a tilted superhydrophobic surface at a vertical ascent rate faster than freely rising ones of high Reynold numbers ~O(10(2)). As the tilted angle increases, the drag coefficient remains essentially the same as that of a freely rising bubble but the frontal area of the flat bubble rises monotonically...
January 12, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/28073127/long-term-consequences-of-congenital-adrenal-hyperplasia-due-to-classic-21-hydroxylase-deficiency-in-adolescents-and-adults
#4
Ja Hye Kim, Jin-Ho Choi, Eungu Kang, Yoon-Myung Kim, Beom Hee Lee, Han-Wook Yoo
Background The management of congenital adrenal hyperplasia (CAH) from pediatric to adulthood is challenging to achieve optimal growth and puberty. This study characterizes the clinical outcomes of 21-hydroxylase deficiency. Methods 53 CAH patients were included (33 females, 15 and 18 patients with the salt-wasting [SW] and simple-virilizing [SV] forms; and 20 males, 16 and 4 patients with the SW and SV forms). We reviewed growth parameters, pubertal status, and long-term morbidities. Results In females, the age at pubertal onset and pubarche was 9...
January 10, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28063454/calcium-hydrogen-interactions-for-collisional-excitation-and-charge-transfer
#5
A Mitrushchenkov, M Guitou, A K Belyaev, S A Yakovleva, A Spielfiedel, N Feautrier
The accurate highly correlated ab initio calculations for ten low lying covalent Σ+2 states of CaH molecule, and one ionic Ca(+)H(-) state, are performed using large active space and extended basis set, with special attention to the long-range (6-20 Å) region where a number of avoided crossings between ionic and covalent states occur. These states are further transformed to a diabatic representation using a numerical diabatization scheme based on the minimization of derivative coupling. This results in a smooth diabatic Hamiltonian which can be easily fit to an analytic form...
January 7, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/28057157/-clinical-features-and-outcomes-of-congenital-adrenal-hyperplasia-with-adenomatoid-adrenal-gland
#6
Y L Gu, W J Gu, J T Dou, L Zang, J Du, G Q Yang, L J Yang, J M Ba, Z H Lü, Y M Mu, J M Lu
Objective: To analyze the clinical features and outcomes of congenital adrenal hyperplasia (CAH) with adenomatoid adrenal gland. Methods: Nineteen patients clinically confirmed as CAH with adenomatoid adrenal gland, from 2008 to 2015 in Deparment of Endocrinology of Chinese PLA General Hospital, were retrospectively analyzed, and the outcomes of the treatment were followed up. Results: Seventy-six patients were clinically confirmed as CAH, from 2008 to 2015 in PLA hospital. Nineteen of them have accompanied with adenomatoid adrenal gland...
December 27, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28035617/community-acquired-hypokalemia-in-elderly-patients-related-factors-and-clinical-outcomes
#7
S Bardak, K Turgutalp, M B Koyuncu, H Harı, I Helvacı, D Ovla, M Horoz, S Demir, A Kıykım
PURPOSE: Electrolyte imbalance is a common problem affecting the elderly. Increased number of comorbidities and frequent use of drugs may contribute to increased risk of hypokalemia in the elderly. This study was performed to investigate the prevalence of community-acquired hypokalemia (CAH), risk factors for its development, related factors with hypokalemia, and morbidities and all-cause mortality rates (MR) of CAH in the elderly patients. METHODS: Total of 36,361 patients aged above 65 years were screened retrospectively...
December 29, 2016: International Urology and Nephrology
https://www.readbyqxmd.com/read/28005277/health-related-quality-of-life-and-psychological-wellbeing-in-adults-with-differences-of-sex-development-dsd
#8
Elena Bennecke, Ute Thyen, Annette Grüters, Anke Lux, Birgit Köhler
OBJECTIVE: Rare congenital conditions with incongruence of chromosomal, gonadal, and phenotypic sex have been classified as Differences/ Disorders of Sex Development (DSD). Included in DSD are conditions with diverse genetic aetiology, varying levels of prenatal androgen effects, phenotypes, and subsequently, different medical treatments. Quality of life (QoL) and psychological wellbeing are indicators of successful psychosocial adaptation to the conditions. We sought to investigate the HRQOL and psychological wellbeing in this population...
December 22, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/28004421/comparison-of-neutrophil-functions-between-two-strains-of-inbred-mice
#9
Xiaohuan Zhang, Sainan Zhao, Luping Sun, Wenqing Li, Michael Glogauer, Yan Hu
In this study, differences in neutrophil function represented by Rac1 expression, chemotaxis, NADPH oxidase activity, and formation of neutrophil extracellular traps (NETs) from 2 strains of inbred mice were determined. Neutrophils from CBA/CaH mice exhibited decreased Rac1 expression and a reduced speed in the chemotactic gradient compared to BALB/c mice. Furthermore, the level of superoxide and NETs generated by PMA- or fMLP-stimulated neutrophils from CBA/CaH mice was much lower compared to stimulated neutrophils from BALB/c mice...
December 22, 2016: Microbiology and Immunology
https://www.readbyqxmd.com/read/27998513/sexual-orientation-and-medical-history-among-iranian-people-with-complete-androgen-insensitivity-syndrome-and-congenital-adrenal-hyperplasia
#10
Behzad S Khorashad, Ghasem M Roshan, Alistair G Reid, Zahra Aghili, Mehran Hiradfar, Mozhgan Afkhamizadeh, Ali Talaei, Azadeh Aarabi, Nosrat Ghaemi, Negin Taghehchian, Hedieh Saberi, Nazanin Farahi, Mohammad Reza Abbaszadegan
OBJECTIVE: To report sexual orientation, relationship status and medical history of Iranian people with Differences of Sex Development (DSD) who were raised female. METHODS: Our participants consisted of nineteen 46,XY individuals with Complete Androgen Insensitivity Syndrome (CAIS) and eighteen 46,XX individuals with Congenital Adrenal Hyperplasia (CAH) who were raised as females and older than 13years. As well as their relationship status and detailed medical history, an expert psychiatrist assessed their sexual orientation by a semi-structured psychiatric interview with them and, where applicable, their parents...
January 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/27984406/correlates-of-interorganizational-relationship-strategies-among-critical-access-hospitals
#11
Larry R Hearld, Nathaniel W Carroll, Kristine R Hearld, William Opoku-Agyeman
BACKGROUND: Interorganizational relationships (IORs) between hospitals and other health care providers have many potential benefits for critical access hospitals (CAHs) that operate in resource-constrained environments. Given the potential benefits of IORs, especially for CAHs, it is important to identify the conditions that support or hinder IOR development. However, most research examining IORs isolates individual types of relationships while ignoring the practical reality that many hospitals participate in a portfolio of relationships simultaneously...
December 15, 2016: Health Care Management Review
https://www.readbyqxmd.com/read/27978607/neonatal-17-hydroxyprogesterone-levels-adjusted-according-to-age-at-sample-collection-and-birth-weight-improve-the-efficacy-of-congenital-adrenal-hyperplasia-newborn-screening
#12
Giselle Y Hayashi, Daniel F Carvalho, Mirela C de Miranda, Cláudia Faure, Carla Vallejos, Vinícius N Brito, Andresa De Santi, Guiomar Madureira, Berenice B Mendonca, Tânia A S S Bachega
The primary concern related to CAH newborn screening (NBS) is the high rate of false-positive results (FPR) associated with prematurity; false-negative results (FNR) can also occur due to precocious sample collection OBJECTIVE: To determine the neonatal 17-hydroxyprogesterone (N17OHP) normal range in newborns in Sao Paulo using different references according to age and birth-weight, and to establish the optimal NBS cut-off levels METHODS: N17OHP levels from 271,810 newborns (NBs) according to sample collection time (G1: 48-<72 hs and G2: ≥72 hs) and birth-weight (≤1,500g, 1,501-2,000g, 2,001-2,500 and >2,500g) were evaluated...
December 15, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27977405/monitoring-steroid-replacement-therapy-in-children-with-congenital-adrenal-hyperplasia
#13
Niels H Birkebaek, David M Hougaard, Arieh S Cohen
BACKGROUND: The objective of this study was to compare the analysis of 17-hydroxyprogesterone (17-OHP) by radio-immunoassay (RIA) in serum with analysis by liquid chromatography tandem mass spectrometry (LC-MS/MS) on dried blood spot samples (DBSS) for monitoring therapy in children with congenital adrenal hyperplasia (CAH), and to investigate differences in 17-OHP values during the day. METHODS: Fourteen children (8 females), median age 4.2 (0.3-16.0) years, were studied...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27974295/cardiovascular-health-growth-and-gonadal-function-in-children-and-adolescents-with-congenital-adrenal-hyperplasia
#14
REVIEW
Christiaan F Mooij, Emma A Webb, Hedi L Claahsen van der Grinten, Nils Krone
After the introduction of replacement therapy with glucocorticoids and mineralocorticoids in the 1950s, congenital adrenal hyperplasia (CAH) is no longer a life-limiting condition. However, due to the successful introduction of medical steroid hormone replacement, CAH has become a chronic condition, with associated comorbidities and long-term health implications. The aim of treatment is the replacement of mineralocorticoids and glucocorticoids and the normalisation of elevated androgen concentrations. Long-term consequences of the condition and current treatment regimens include unfavourable changes in the cardiovascular risk profile, impaired growth, testicular adrenal rest tumours (TART) in male and subfertility in both male and female patients with CAH...
December 14, 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27967205/gestational-hyperandrogenism-in-developmental-programming
#15
C Hakim, V Padmanabhan, A K Vyas
Androgen excess (hyperandrogenism) is a common endocrine disorder affecting women of reproductive age. Potential causes of androgen excess in women include: polycystic ovary syndrome, congenital adrenal hyperplasia (CAH), adrenal tumors, and racial disparity amongst many others. During pregnancy, luteoma, placental aromatase deficiency, and fetal CAH are additional causes of gestational hyperandrogenism. This paper reviews the various phenotypes of hyperandrogenism during pregnancy, its origin, pathophysiology, and the impact of hyperandrogenism on fetal developmental trajectory and offspring consequences...
December 14, 2016: Endocrinology
https://www.readbyqxmd.com/read/27966633/structure-based-activity-prediction-of-cyp21a2-stability-variants-a-survey-of-available-gene-variations
#16
Carlos D Bruque, Marisol Delea, Cecilia S Fernández, Juan V Orza, Melisa Taboas, Noemí Buzzalino, Lucía D Espeche, Andrea Solari, Verónica Luccerini, Liliana Alba, Alejandro D Nadra, Liliana Dain
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90-95% of CAH cases. In this work we performed an extensive survey of mutations and SNPs modifying the coding sequence of the CYP21A2 gene. Using bioinformatic tools and two plausible CYP21A2 structures as templates, we initially classified all known mutants (n = 343) according to their putative functional impacts, which were either reported in the literature or inferred from structural models. We then performed a detailed analysis on the subset of mutations believed to exclusively impact protein stability...
December 14, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27965122/assembling-a-functional-clitoris-and-vulva-from-a-pseudo-penis-a-surgical-technique-for-an-adult-woman-with-congenital-adrenal-hyperplasia
#17
Wiebren A A Tjalma
BACKGROUND: Congenital adrenal hyperplasia (CAH) is associated with a genital deformation that may cause a negative body image. The genital ambiguity is generally "corrected" surgically during early infancy. The advantage is a psychological benefit. The disadvantages are multiple surgical procedures and the loss of orgasm. CASE: A 22-year-old woman with CAH consulted for genital reconstructive surgery. She had a pseudo-penis of 4 cm and could achieve an orgasm by masturbating...
December 10, 2016: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/27959413/17%C3%AE-%C3%A2-hydroxylase-17-20%C3%A2-lyase-deficiency-in-congenital-adrenal-hyperplasia-a-case-report
#18
Simiao Xu, Shuhong Hu, Xuefeng Yu, Muxun Zhang, Yan Yang
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene located on chromosome 10q24.3, which leads to a deficiency in 17α‑hydroxylase/17,20‑lyase. The disorder is characterized by low blood levels of estrogens, androgens and cortisol, which leads to a compensatory increase in adrenocorticotropic hormone levels that stimulate the production of mineralocorticoid precursors. This subsequently leads to hypertension, hypokalemia, primary amenorrhea and sexual infantilism...
January 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27956315/stability-of-a-liquid-bridge-between-nonparallel-hydrophilic-surfaces
#19
Mohammadmehdi Ataei, Huanchen Chen, Tian Tang, Alidad Amirfazli
Formation of liquid bridges between two solid surfaces is frequently observed in industry and nature, e.g. in printing applications. When the two solid surfaces are not parallel (with a dihedral angle ψ between them), an interesting phenomenon emerges: if ψ exceeds a critical angle (denoted as ψc) the bridge is no longer stable, and propels itself toward the cusp of the surfaces. In this work we performed, for the first time, a systematic study on the parameters influencing ψc by combining experimental, theoretical, and numerical investigations...
December 5, 2016: Journal of Colloid and Interface Science
https://www.readbyqxmd.com/read/27939034/motion-of-a-liquid-bridge-between-nonparallel-surfaces
#20
Mohammadmehdi Ataei, Tian Tang, Alidad Amirfazli
Bulk motion of a liquid bridge between two nonparallel identical solid surfaces undergoing multiple loading cycles (compressing and stretching) was investigated numerically and experimentally. The effects of the following governing parameters were studied: the dihedral angle between the two surfaces (ψ), the amount of compressing and stretching (Δh), and wettability parameters i.e. the advancing contact angle (θa) and Contact Angle Hysteresis (CAH). Experiments were done using various combinations of ψ, Δh and on surfaces with different wettabilities to understand the effect of each parameter individually...
November 29, 2016: Journal of Colloid and Interface Science
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