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https://www.readbyqxmd.com/read/28720594/impact-of-transition-on-quality-of-life-in-patients-with-congenital-adrenal-hyperplasia-diagnosed-during-childhood
#1
Anne Bachelot, Magaly Vialon, Amandine Baptiste, Isabelle Tejedor, Caroline Elie, Michel Polak, Philippe Touraine
BACKGROUND: Health-related quality of life (QoL) in adult patients with congenital adrenal hyperplasia (CAH) has been variously reported. However, there is no study evaluating the impact of transition on quality of life. METHODS: Adult patients with classic or non-classic CAH diagnosed during childhood CAH, born between 1970 and 1990, were recruited from the registers of Pediatric departments belonging to the French reference center for endocrine rare disease. Primary end point was the quality of life (WHOQoL -BREF)...
July 18, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28710552/the-african-froghopper-ptyelus-flavescens-suborder-cicadomorpha-contains-two-novel-and-one-known-peptides-of-the-adipokinetic-hormone%C3%A2-akh-family-structure-function-and-comparison-with-aphid-akh-suborder-sternorrhyncha
#2
Gerd Gäde, Petr Šimek, Heather G Marco
The rationale of "green pesticides" in food security is to use information about endogenous hormones of pest insects to make peptide mimetics that will act against the pest insects to alter their behaviour or physiology, while taking care not to harm beneficial insects or other organisms in the food chain. Such "green" insecticides are designed thus, on the basis of neuropeptide ligand-receptor interaction and it is of paramount interest to have finally a mimetic at hand that is harmful only to pest insects...
July 14, 2017: Amino Acids
https://www.readbyqxmd.com/read/28644547/a-genetic-epidemiology-study-of-congenital-adrenal-hyperplasia-in-italy
#3
Alessandro Gialluisi, Soara Menabò, Lilia Baldazzi, Letizia Casula, Antonella Meloni, Maria Carla Farci, Stefano Mariotti, Luisa Balestrino, Rita Ortolano, Stefania Murru, Carlo Carcassi, Sandro Loche, Antonio Balsamo, Giovanni Romeo
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) is an autosomal recessive disorder affecting steroidogenesis, due to mutations in CYP21A2 (6p21.3). 21OHD-CAH neonatal screening is based on 17-hydroxyprogesterone (17OHP) serum levels, showing high type I error rate and low sensitivity to mild CAH forms. Here, we used an epidemiological approach, which estimates the allelic frequency (q) of an autosomal recessive disorder using the proportion of homozygous patients, the mutational spectrum and the inbreeding coefficient in a sample of affected individuals...
June 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28640966/linking-the-degree-of-virilization-in-females-with-congenital-adrenal-hyperplasia-to-genotype
#4
Semyon Gurgov, Kerlly J Bernabé, John Stites, Christopher M Cunniff, Karen Lin-Su, Diane Felsen, Maria I New, Dix P Poppas
Mutations of CYP21A2 variably decrease 21-hydroxylase activity and result in a spectrum of disease expressions in patients with congenital adrenal hyperplasia (CAH). We examined the association between CYP21A2 mutations and virilization (Prader score) in females with CAH. The study population included 187 CAH females with fully characterized CYP21A2 mutations. One hundred fifty-eight patients were sorted into groups by expected enzyme activity (percent of normal activity) of the less severely affected allele: (A) null, 0%; (B) I2G, 1%; (C) I172N, 2%; and (D) V281L, >2%...
June 22, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28639595/prenatal-diagnosis-of-steroid-21-hydroxylase-deficient-congenital-adrenal-hyperplasia-experience-from-a-tertiary-care-centre-in-india
#5
Sudhisha Dubey, Veronique Tardy, Madhumita Roy Chowdhury, Neerja Gupta, Vandana Jain, Deepika Deka, Pankaj Sharma, Yves Morel, Madhulika Kabra
BACKGROUND & OBJECTIVES: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a wide range of clinical manifestations. The disease is attributed to mutations in CYP21A2 gene encoding 21-hydroxylase enzyme. In view of severe phenotype in salt-losing cases, issues related to genital ambiguity in girls and precocity in boys, most families opt for prenatal testing and termination of affected foetus. CAH can be diagnosed in utero through direct molecular analysis of CYP21A2 gene, using DNA extracted from foetal tissues or cells obtained from chorionic villus sampling or amniocentesis...
February 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28638668/severe-short-stature-in-an-adolescent-male-with-prader-willi-syndrome-and-congenital-adrenal-hyperplasia-a-therapeutic-conundrum
#6
Meredith Wasserman, Erin M Mulvihill, Angela Ganan-Soto, Serife Uysal, Jose Bernardo Quintos
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28637490/lipoid-congenital-adrenal-hyperplasia-by-steroidogenic-acute-regulatory-protein-star-gene-mutation-in-an-italian-infant-an-uncommon-cause-of-adrenal-insufficiency
#7
Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli, Marco Cappa
BACKGROUND: Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of cholesterol to pregnenolone. Affected infants experience salt loss, but glucocorticoid and mineralocorticoid replacement therapy enables long-term survival. Classic lipoid congenital adrenal hyperplasia is relatively common in Japan and Korea but extremely rare in Caucasian populations...
June 20, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28617154/two-kidney-one-clip-is-a-pertinent-approach-to-integrate-arterial-hypertension-in-animal-models-of-stroke-serial-magnetic-resonance-imaging-studies-of-brain-lesions-before-and-during-cerebral-ischemia
#8
Benjamin Ménard, Laurent Chazalviel, Simon Roussel, Myriam Bernaudin, Omar Touzani
Although chronic arterial hypertension (CAH) represents the major comorbid factor in stroke, it is rarely integrated in preclinical studies of stroke. The majority of those investigations employ spontaneously hypertensive rats (SHR) which display a susceptibility to ischemic damage independent of hypertension. Here, we used a renovascular model of hypertension (RH) to examine, with magnetic resonance imaging (MRI), brain alterations during the development of hypertension and after brain ischemia. We also examined whether MRI-derived parameters predict the extent of ischemia-induced brain damage...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28613048/is-the-second-to-fourth-digit-ratio-2d-4d-a-biomarker-of-sex-steroids-activity
#9
Vincenzo de Sanctis, Ashraf T Soliman, Heba Elsedfy, Nada Soliman, Rania Elalaily, Salvatore Di Maio
The second-to-fourth digit ratio (2D:4D) has been used as an indirect method to investigate the putative effects of prenatal exposure to androgens, and has been reported to be smaller in males than in females. This gender difference in digit length ratios has been linked with the in utero balance of androgens to oestrogen. This sexual dimorphism in 2D:4D ratios is apparent by 2 years of age and seems to be established early in life, possibly by the 14th week of gestation. Digits in females attain their maximum length at about 2...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28609197/the-glu331del-mutation-in-the-cyp17a1-gene-causes-atypical-congenital-adrenal-hyperplasia-in-a-46-xx-female
#10
Giulia Lanzolla, Giuseppe Vancieri, Silvia Lanciotti, Federica Sangiuolo, Elisa Menegatti, Luca Federici, Costanzo Moretti, Francesco Brancati
17α-Hydroxylase deficiency is an uncommon type of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene encoding both 17α-hydroxylase and 17,20-lyase, essential for sex steroids production. Main clinical features include lack of pubertal development, hypertension, and hypokalemia. We report the first case of a 46,XX female homozygote for the p.Glu331del mutation in the CYP17A1 gene showing an atypical clinical presentation. She was evaluated the first time for primary amenorrhea and delayed puberty in the presence of low levels of androgens, 17β-estradiol, serum cortisol, and high levels of progesterone and gonadotropins...
June 13, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28599884/comparing-single-site-and-multiport-robotic-hysterectomy-with-sentinel-lymph-node-mapping-for-endometrial-cancer-surgical-outcomes-and-cost-analysis
#11
Lea A Moukarzel, Abdulrahman K Sinno, Amanda N Fader, Edward J Tanner
STUDY OBJECTIVE: To compare operative times, surgical outcomes, and costs of robotic laparo-endoscopic single-site (R-LESS) versus multiport robotic (MPR) total laparoscopic hysterectomy (TLH) with sentinel lymph node (SLN) mapping for low risk endometrial cancer. DESIGN: Retrospective cohort study (Canadian Task Force Classification Level II-2) SETTING: Academic university hospital PATIENTS: Patients with biopsy proven diagnosis of complex atypical hyperplasia (CAH) or low grade (1 or 2) endometrial cancer with body mass index less than 30 kg/m(2) and a undergoing robotic TLH and SLN mapping between 2012 and 2016 were included...
June 6, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28585819/wettability-of-complex-fluids-and-surfactant-capped-nanoparticle-induced-quasi-universal-wetting-behavior
#12
A R Harikrishnan, Purbarun Dhar, Prabhat K Agnihotri, Sateesh Gedupudi, Sarit Kumar Das
Even though there are quite large studies on wettability of aqueous surfactants and a few studies on effects of nanoparticles on wettability of colloids, to the best of authors' knowledge, there is no study reported on the combined effect of surfactant and nanoparticles in altering the wettability. The present study, for the first time, reports an extensive experimental and theoretical study on the combined effect of surfactants and nanoparticles on the wettability of complex fluids such as nanocolloids on different substrates, ranging from hydrophilic with a predominantly polar surface energy component (silicon wafer and glass) to near hydrophobic range with a predominantly dispersive component of surface energy (aluminum and copper substrates)...
June 12, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28582566/non-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-revisited-an-update-with-a-special-focus-on-adolescent-and-adult-women
#13
Enrico Carmina, Didier Dewailly, Héctor F Escobar-Morreale, Fahrettin Kelestimur, Carlos Moran, Sharon Oberfield, Selma F Witchel, Ricardo Azziz
BACKGROUND: Non-classic congenital hyperplasia (NCAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder characterized by androgen excess. OBJECTIVE AND RATIONALE: We conducted a systematic review and critical assessment of the available evidence pertaining to the epidemiology, pathophysiology, diagnosis and management of NCAH. A meta-analysis of epidemiological data was also performed. SEARCH METHODS: Peer-reviewed studies evaluating NCAH published up to October 2016 were reviewed...
June 5, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28562472/gonadotropin-releasing-hormone-agonist-combined-with-a-levonorgestrel-releasing-intrauterine-system-or-letrozole-for-fertility-preserving-treatment-of-endometrial-carcinoma-and-complex-atypical-hyperplasia-in-young-women
#14
Huimei Zhou, Dongyan Cao, Jiaxin Yang, Keng Shen, Jinghe Lang
OBJECTIVES: The aim of this study was to evaluate the efficacy and safety with gonadotropin-releasing hormone agonist (GnRHa) combined with a levonorgestrel-releasing intrauterine system or an aromatase inhibitor (letrozole) in young women with well-differentiated early endometrial carcinoma (EC) and complex atypical hyperplasia (CAH). METHODS: We performed a retrospective analysis including the clinical characteristics of 29 patients younger than 45 years with early well-differentiated endometrioid adenocarcinoma of the uterus (EC) or CAH who were treated at the Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, from January 2012 to April 2016...
July 2017: International Journal of Gynecological Cancer
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
#15
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
#16
Munir Ahmad, Mahtab Ahmad, Adel R A Usman, Abdullah S Al-Faraj, Yong Sik Ok, Qaiser Hussain, Adel S Abduljabbar, Mohammad I Al-Wabel
Bio-calcite (BC) derived from waste hen eggshell was subjected to thermal treatments (calcined bio-calcite (CBC)). The BC and CBC were further modified via magnesiothermal treatments to produce modified bio-calcite (MBC) and modified calcined bio-calcite (MCBC), respectively, and evaluated as a novel green sorbent for P removal from aqueous solutions in the batch experiments. Modified BC exhibited improved structural and chemical properties, such as porosity, surface area, thermal stability, mineralogy and functional groups, than pristine material...
June 9, 2017: Environmental Technology
https://www.readbyqxmd.com/read/28541281/revisiting-the-prevalence-of-nonclassic-congenital-adrenal-hyperplasia-in-us-ashkenazi-jews-and-caucasians
#17
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
#18
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-hydroxyprogesterone (17α-OH-progesterone) to 11-deoxycortisol. More than 100 CYP21A2 variants give rise to congenital adrenal hyperplasia (CAH). We previously reported a structure of 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...
June 30, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28535944/restoring-normal-anatomy-in-female-patients-with-atypical-genitalia
#19
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...
June 2017: Seminars in Perinatology
https://www.readbyqxmd.com/read/28535943/pragmatic-approach-to-intersex-including-genital-ambiguity-in-the-newborn
#20
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...
June 2017: Seminars in Perinatology
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