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https://www.readbyqxmd.com/read/28550023/the-super-study-protocol-for-a-randomised-controlled-trial-comparing-follicle-stimulating-hormone-and-clomiphene-citrate-for-ovarian-stimulation-in-intrauterine-insemination
#1
N A Danhof, M van Wely, Cam Koks, J Gianotten, J P de Bruin, B J Cohlen, D P van der Ham, N F Klijn, Mha van Hooff, Fjm Broekmans, K Fleischer, Cah Janssen, J M Rijn van Weert, J van Disseldorp, M Twisk, M Traas, Mfg Verberg, M J Pelinck, J Visser, Dam Perquin, DES Boks, H R Verhoeve, C F van Heteren, Bwj Mol, S Repping, F van der Veen, M H Mochtar
OBJECTIVE: To study the effectiveness of four cycles of intrauterine insemination (IUI) with ovarian stimulation (OS) by follicle-stimulating hormone (FSH) or by clomiphene citrate (CC), and adherence to strict cancellation criteria. SETTING: Randomised controlled trial among 22 secondary and tertiary fertility clinics in the Netherlands. PARTICIPANTS: 732 women from couples diagnosed with unexplained or mild male subfertility and an unfavourable prognosis according to the model of Hunault of natural conception...
May 25, 2017: BMJ Open
https://www.readbyqxmd.com/read/28545323/an-efficient-phosphorus-scavenging-from-aqueous-solution-using-magnesiothermally-modified-bio-calcite
#2
Munir Ahmad, Mahtab Ahmad, Adel R A Usman, Abdullah S Al-Faraj, Yong Sik Ok, Qaiser Hussain, Adel Abduljabbar, Mohammad I Al-Wabel
The excessive discharge of phosphorus (P) from sewage treatment plants and runoff from agricultural fields is causing a rapid contamination of water resources worldwide. Several materials have been evaluated for the removal of excess P from waste supplies, but designing a cost-effective and environmental friendly substrate is essential for the efficient P removal. In this study, bio-calcite (BC) derived from waste hen eggshell was subjected to thermal treatments (CBC). The BC and CBC further modified via magnesiothermal treatments to produced MBC and MCBC, respectively, and evaluated as a novel green sorbent for P removal from aqueous solutions...
May 26, 2017: Environmental Technology
https://www.readbyqxmd.com/read/28541281/revisiting-the-prevalence-of-nonclassic-congenital-adrenal-hyperplasia-in-us-ashkenazi-jews-and-caucasians
#3
Fady Hannah-Shmouni, Rachel Morissette, Ninet Sinaii, Meredith Elman, Toni R Prezant, Wuyan Chen, Ann Pulver, Deborah P Merke
PurposeNonclassic 21-hydroxylase deficiency, a mild form of congenital adrenal hyperplasia (CAH), is estimated to be the most common autosomal recessive condition, with an especially high prevalence in Ashkenazi Jews (3.7% affected, 30.9% carriers), based on a 1985 HLA-B linkage study of affected families. Affected individuals, especially women, may suffer from hyperandrogenism and infertility. State-of-the-art genetic studies have not been done to confirm these remarkable rates.MethodsCYP21A2 genotyping was performed in 200 unrelated healthy Ashkenazi Jewish subjects and 200 random US Caucasians who did not self-identify as a specific ethnicity using multiplex minisequencing, real-time polymerase chain reaction and junction site analysis...
May 25, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28539365/functional-analysis-of-human-cytochrome-p450-21a2-variants-involved-in-congenital-adrenal-hyperplasia
#4
Chunxue Wang, Pradeep S Pallan, Wei Zhang, Li Lei, Francis K Yoshimoto, Michael R Waterman, Martin Egli, F Peter Guengerich
Cytochrome P450 (P450, CYP) 21A2 is the major steroid 21-hydroxylase, converting progesterone to 11-deoxycorticosterone and 17α-hydroxy(OH)progesterone to 11-deoxycortisol. More than 100 CYP21A2 variants give rise to congenital adrenal hyperplasia (CAH). We previously reported a structure of wild-type (WT) human P450 21A2 with bound progesterone and now present a structure bound to the other substrate (17α-OH progesterone). We found that the 17α-OH progesterone- and progesterone-bound complex structures are highly similar, with only some minor differences in surface loop regions...
May 24, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28535944/restoring-normal-anatomy-in-female-patients-with-atypical-genitalia
#5
Laurence S Baskin
Female patients with congenital adrenal hyperplasia (CAH) have varying degrees of atypical genitalia secondary to prenatal and postnatal androgen exposure. Surgical treatment is focused on restoring normal genitalia anatomy by bringing the vagina to the normal position on the perineum, separating the distal vagina from the urethra, forming a normal introitus and preserving sexual function of the clitoris by accepting moderate degrees of hypertrophy as normal and strategically reducing clitoral size only in the most severely virilized patients...
May 20, 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28535943/pragmatic-approach-to-intersex-including-genital-ambiguity-in-the-newborn
#6
Kanthi Bangalore Krishna, Christopher P Houk, Peter A Lee
The evaluation and management of a newborn with ambiguous genitalia must be undertaken as quickly as possible and with great sensitivity for the child's family. Where possible, a comprehensive team approach with a pediatric urologist, endocrinologist, geneticist, neonatologist, and child psychiatrist/psychologist should work closely with the family to establish the diagnosis and determine gender. Although the preferred gender assignment is not always clear, a thorough examination of endocrine function, karyotype, and potential for fertility should guide the determination...
May 20, 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28525380/comparison-among-fertility-sparing-therapies-for-well-differentiate-early-stage-endometrial-carcinoma-and-complex-atypical-hyperplasia
#7
REVIEW
Qing Zhang, Gonghua Qi, Margaux J Kanis, Ruifen Dong, Baoxia Cui, Xingsheng Yang, Beihua Kong
OBJECTIVE: To compare fertility-sparing therapies including oral progestogens, hysteroscopic resection (HR), and the levonorgestrel- releasing intrauterine system (LNG-IUS) in achieving disease regression, recurrence and live birth rate in well differentiate early-stage endometrial carcinoma (eEC) and complex atypical hyperplasia(CAH). STUDY DESIGN: This was a meta-analysis of previous studies focus on the fertility-sparing therapy for well differentiate early-stage endometrial carcinoma (eEC) and complex atypical hyperplasia (CAH)...
May 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28523454/stigma-associated-with-classical-congenital-adrenal-hyperplasia-in-women-s-sexual-lives
#8
Heino F L Meyer-Bahlburg, Jananne Khuri, Jazmin Reyes-Portillo, Anke A Ehrhardt, Maria I New
The risk of intersex-related stigma often serves as social indication for "corrective" genital surgery, but has not been comprehensively documented. In preparation for the development of an intersex-specific stigma assessment tool, this qualitative project aimed to explore stigma in girls and women with classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. As part of a comprehensive follow-up project, 62 adult women with classical CAH (age range 18-51 years) took part in an open-ended retrospective interview focusing on the impact of CAH and its treatment on various aspects of girls' and women's lives...
May 18, 2017: Archives of Sexual Behavior
https://www.readbyqxmd.com/read/28521877/cyp21a2-intronic-variants-causing-21-hydroxylase-deficiency
#9
REVIEW
Paola Concolino, Roberta Rizza, Alessandra Costella, Cinzia Carrozza, Cecilia Zuppi, Ettore Capoluongo
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P pseudogene. Rare mutations not generated by gene conversion account for 5-10% of 21-hydroxylase deficiency alleles. Intronic variants represent only a little part of these but their effect on the protein is generally deleterious. The aim of this paper is to provide a comprehensive literary review regarding all intronic CYP21A2 pathological variants reported to date...
June 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28514642/congenital-adrenal-hyperplasia-due-to-11-hydroxylase-deficiency-compound-heterozygous-mutations-of-a-prevalent-and-two-novel-cyp11b1-mutations
#10
Chongjuan Gu, Tao Tan, Junbao Yang, Yilu Lu, Yongxin Ma
11β-hydroxylase deficiency (11β-OHD) occurs in about 5-8% of congenital adrenal hyperplasia (CAH). In this study, we identified three CYP11B1 (encoding Cytochrome P450 11B1) heterozygous mutations: c.1358G>C (p.R453Q), c.1229T>G (p.L410R) and c.1231G>T (p.G411C) in a Chinese CAH patient due to classic 11β-OHD. His parents were healthy and respectively carried the prevalent mutation c.1358G>C (p.R453Q), and the two novel mutations c.1229T>G (p.L410R) and c.1231G>T (p.G411C). In vitro expression studies, immunofluorescence demonstrated that wild type and mutant (L410R and G411C) proteins of CYP11B1 were correctly expressed on the mitochondria, and enzyme activity assay revealed the mutant reduced the 11-hydroxylase activity to 10% (P<0...
May 14, 2017: Gene
https://www.readbyqxmd.com/read/28501574/androgen-production-in-pediatric-adrenocortical-tumors-may-occur-via-both-the-classic-and-or-the-alternative-backdoor-pathway
#11
Nesa Marti, Jana Malikova, José A Galván, Maude Aebischer, Marco Janner, Zdenek Sumnik, Barbora Obermannova, Genevieve Escher, Aurel Perren, Christa E Flück
Children with adrenocortical tumors (ACTs) often present with virilization due to high tumoral androgen production, with dihydrotestosterone (DHT) as most potent androgen. Recent work revealed two pathways for DHT biosynthesis, the classic and the backdoor pathway. Usage of alternate routes for DHT production has been reported in castration-resistant prostate cancer, CAH and PCOS. To assess whether the backdoor pathway may contribute to the virilization of pediatric ACTs, we investigated seven children suffering from androgen producing tumors using steroid profiling and immunohistochemical expression studies...
May 10, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28500827/psychological-vulnerability-to-stress-in-carriers-of-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
#12
Eleni-Magdalini Kyritsi, Georgia Koltsida, Ioanna Farakla, Aikaterini Papanikolaou, Elena Critselis, Emilia Mantzou, Emmanouil Zoumakis, Gerasimos Kolaitis, George P Chrousos, Evangelia Charmandari
OBJECTIVE: Carriers of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) demonstrate increased secretion of cortisol precursors following ACTH stimulation, suggestive of impaired cortisol production and compensatory increases in hypothalamic corticotropin-releasing hormone (CRH) secretion. Both cortisol and CRH have behavioral effects, and hypothalamic CRH hypersecretion has been associated with chronic states of anxiety and depression. We performed an endocrinologic and psychological evaluation in carriers of 21-OHD and matched control subjects...
January 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28492258/preparation-and-coherent-manipulation-of-pure-quantum-states-of-a-single-molecular-ion
#13
Chin-Wen Chou, Christoph Kurz, David B Hume, Philipp N Plessow, David R Leibrandt, Dietrich Leibfried
Laser cooling and trapping of atoms and atomic ions has led to advances including the observation of exotic phases of matter, the development of precision sensors and state-of-the-art atomic clocks. The same level of control in molecules could also lead to important developments such as controlled chemical reactions and sensitive probes of fundamental theories, but the vibrational and rotational degrees of freedom in molecules pose a challenge for controlling their quantum mechanical states. Here we use quantum-logic spectroscopy, which maps quantum information between two ion species, to prepare and non-destructively detect quantum mechanical states in molecular ions...
May 10, 2017: Nature
https://www.readbyqxmd.com/read/28489558/evaluation-of-factors-associated-with-elevated-newborn-17-hydroxyprogesterone-levels
#14
V Shobi Anandi, Bhattacharyya Shaila
BACKGROUND: Measurement of 17-hydroxyprogesterone (17-OHP) in dried blood spots has been widely used as a newborn screening tool for congenital adrenal hyperplasia (CAH). Various maternal and neonatal factors can result in falsely high values of 17-OHP. There is a paucity of Indian studies in this regard because routine evaluation of newborn 17-OHP levels as a screening program is not widely practiced in India. Hence, this study was undertaken to evaluate the influence of various maternal and neonatal factors on newborn 17-OHP levels...
May 10, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28488466/the-removal-of-chlorinated-aliphatic-hydrocarbons-from-water-using-reactive-activated-carbon-the-influence-of-synthesis-factors-and-reaction-environments
#15
Zhang Wei, Xiao Ting, Liu Nuo, Ying Weichi
In this work, granular activated carbon composite incorporated with nanoscale zerovalent iron particles (reactive activated carbon, RAC) was synthesized by the liquid phase precipitation method and used to remove chlorinated aliphatic hydrocarbons (CAHs) from water. The influence of synthesis factors, such as base carbon types and annealing treatment temperature, and environmental factors, such as molecular structure of CAHs, common ionic species and natural organic matter, on the removal capacities of RAC for CAHs were investigated...
May 10, 2017: Environmental Technology
https://www.readbyqxmd.com/read/28476231/genetics-of-congenital-adrenal-hyperplasia
#16
REVIEW
Fady Hannah-Shmouni, Wuyan Chen, Deborah P Merke
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders due to single-gene defects in the various enzymes required for cortisol biosynthesis. CAH represents a continuous phenotypic spectrum with more than 95% of all cases caused by 21-hydroxylase deficiency. Genotyping is an important tool in confirming the diagnosis or carrier state, provides prognostic information on disease severity, and is essential for genetic counseling. In this article, the authors provide an in-depth discussion on the genetics of CAH, including genetic diagnosis, molecular analysis, genotype-phenotype relationships, and counseling of patients and their families...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28474207/severity-of-community-acquired-hypernatremia-is-an-independent-predictor-of-mortality
#17
Woo Jin Jung, Hee Jeong Lee, Suyeon Park, Si Nae Lee, Hye Ran Kang, Jin Seok Jeon, Hyunjin Noh, Dong Cheol Han, Soon Hyo Kwon
Hypernatremia develops commonly in critically ill patients during hospitalization, and is associated with adverse outcomes. However, community acquired hypernatremia (CAH) has been rarely studied. We conducted a study in patients who presented to an urban referral hospital, and were admitted with CAH. We retrospectively analyzed patients admitted to an urban tertiary care hospital from January 1, 2012 to December 31, 2014. CAH is defined as more than 147 mEq/L at admission in patients not transferred from other hospitals...
May 4, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28458886/de-novo-disruption-of-promoter-and-exon-1-of-star-gene-reveals-essential-role-for-gonadal-development
#18
Anil Piya, Jasmeet Kaur, Alan M Rice, Himangshu S Bose
SUMMARY: Cholesterol transport into the mitochondria is required for synthesis of the first steroid, pregnenolone. Cholesterol is transported by the steroidogenic acute regulatory protein (STAR), which acts at the outer mitochondrial membrane prior to its import. Mutations in the STAR protein result in lipoid congenital adrenal hyperplasia (CAH). Although the STAR protein consists of seven exons, biochemical analysis in nonsteroidogenic COS-1 cells showed that the first two were not essential for pregnenolone synthesis...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28450075/congenital-adrenal-hyperplasia
#19
REVIEW
Selma Feldman Witchel
The congenital adrenal hyperplasias (CAH) comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to21-hydroxylase deficiency associated with mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features associated with each disorder of adrenal steroidogenesis represent a clinical spectrum reflecting the consequences of the specific mutations. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children...
April 24, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28427378/assessment-of-cardiac-function-in-children-with-congenital-adrenal-hyperplasia-a-case-control-study-in-cameroon
#20
J Tony Nengom, S Sap Ngo Um, D Chelo, R Mbono Betoko, J Boombhi, F Mouafo Tambo, A Chiabi, S Kingue, P Koki Ndombo
BACKGROUND: High level of androgens found in congenital adrenal hyperplasia (CAH) seems to have a deleterious effect on heart function. We therefore evaluate cardiac function of children with CAH in comparison with a healthy group. METHODS: We carried out a case-control study in the single endocrinology unit of the Mother and Child Center of Chantal Biya's Foundation. Cases were matched for age and genotypic sex to 2 healthy controls. We analyzed the ejection fraction (LVEF), fractional shortening and left ventricular mass; output and cardiac index; E and A waves velocities, E/A ratio and the mitral deceleration time and diameter of the left atrium; tricuspid annular plane systolic excursion and pulmonary artery systolic pressure were also measured...
April 20, 2017: BMC Pediatrics
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