Read by QxMD icon Read


Kelly J McKelvey, Vanessa M Yenson, Anthony W Ashton, Jonathan M Morris, Sharon A McCracken
Inbred strains of mice are powerful models for understanding human pregnancy complications. For example, the exclusive mating of CBA/J females to DBA/2J males increases fetal resorption to 20-35% with an associated decline in placentation and maintenance of maternal Th1 immunity. More recently other complications of pregnancy, IUGR and preeclampsia, have been reported in this model. The aim of this study was to qualify whether the CBA/CaH substrain female can substitute for CBA/J to evoke a phenotype of embryonic/fetal mortality and IUGR...
October 21, 2016: Scientific Reports
Yasmeen Ganie, Colleen Aldous, Yusentha Balakrishna, Rinus Wiersma
BACKGROUND: The objective of the study was to describe the prevalence, clinical characteristics and aetiological diagnosis in children with disorders of sex development (DSDs) presenting to a tertiary referral centre. METHODS: This is a retrospective review of all cases of DSD referred to the Paediatric Endocrine Unit in Inkosi Albert Luthuli Central Hospital (IALCH) from January 1995 to December 2014. RESULTS: A total of 416 children (15...
October 18, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred, Lucy Jenkins, Lyn S Chitty
Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches...
2016: Advances in Experimental Medicine and Biology
J Lindert, O Hiort, L Tüshaus, K Tafazzoli-Lari, L Wünsch
A variable spectrum of urogenital malformations exists in girls with congenital adrenal hyperplasia (CAH). The vagina may enter the urethra at a variable level, and relations to the sphincter complex vary accordingly. Furthermore, an enlarged clitoris and variations in the bladder sphincter anatomy can be found. Endoscopy, genitography or magnetic resonance imaging (MRI) are commonly used for the assessment of these anomalies, and to provide information for counselling and treatment. When surgery is planned, introitoplasty cosmetical reduction of the clitoris and labioplasty are discussed with the families; introitoplasty is the most demanding aspect...
September 10, 2016: Journal of Pediatric Urology
A Leyte-Manrique, U Hernández-Salinas, A Ramírez-Bautista, V Mata-Silva, J C Marshall
Studies on habitat use have often helped explain observed variation in morphology, behavior, and reproductive characteristics among populations within a single species. Here we analyze morphological and ecological characteristics of individuals from the Sceloporus grammicus species complex from seven different localities (El Cerezo: CER, Pachuca: PAC, Huichapan: HUI, Emiliano Zapata: EZA, San Miguel Regla: SMR, La Mojonera: LMJ, and La Manzana: LMZ) in the state of Hidalgo, and one locality (Cahuacán) in the State of México...
October 13, 2016: Integrative Zoology
Christopher M McLaughlin, Steven L Marks, David C Dorman, Alison Motsinger-Reif, Rita M Hanel
OBJECTIVE: To characterize the correlation between thromboelastography (TEG) variables using strong activators and anti-Xa (AXa) activity in healthy dogs administered subcutaneous unfractionated heparin (UFH). DESIGN: Prospective experimental study. SETTING: University research facility. ANIMALS: Eight adult random-source male dogs. INTERVENTION: Dogs were randomized to receive subcutaneous UFH at 200, 250, or 300 IU/kg every 8 hours for a total of 10 injections...
October 12, 2016: Journal of Veterinary Emergency and Critical Care
Sang-Uk Cho, Doo-In Kim, Won Kyoung Cho, Bo Sung Shin, Myung Yung Jeong
The effects of the continuity of the surface pattern on wetting enhancement was investigated using micro-pillar and micro-hole arrays on hydrophilic and hydrophobic materials. Isolated micro-pillar arrays and continuous micro-hole arrays were prepared by a micro-scale imprinting technique using positive and negative Si molds fabricated by a conventional photolithography technique. The contact angles (CAs) and contact angle hysteresis (CAH) of the prepared surfaces were measured as a function of the surface parameter ξ, defined as the ratio of the top surface area of the microstructure to the surface area of the flat unit cell...
October 10, 2016: ACS Applied Materials & Interfaces
Z Grubic, M Maskalan, K Stingl Jankovic, S Zvecic, K Dumic Kubat, N Krnic, R Zunec, J Ille, V Kusec, M Dumic
The CYP21A2 mutations that are in linkage disequilibrium with particular HLA-A, -B, -DRB1 alleles/haplotypes, cause deficiency of the 21-hydroxylase enzyme (21-OHD) and account for the majority of congenital adrenal hyperplasia (CAH) cases. The aim of this study was to investigate those associations with the p.V282L mutation linked to the non-classical (NC) form of CAH among Croatians. The study included parents of patients with the NC form of CAH, positive for the p.V282L mutation (N = 55) and cadaveric donor samples (N = 231)...
November 2016: HLA
Todd D Nebesio, Jamie L Renbarger, Zeina M Nabhan, Sydney E Ross, James E Slaven, Lang Li, Emily C Walvoord, Erica A Eugster
BACKGROUND: Little is known about the comparative effects of different glucocorticoids on the adrenal and growth hormone (GH) axes in children with congenital adrenal hyperplasia (CAH). We sought to compare the effects of hydrocortisone (HC), prednisone (PDN), and dexamethasone (DEX) in children with classic CAH and to investigate a potential role of pharmacogenetics. METHODS: Subjects were randomly assigned to three sequential 6-week courses of HC, PDN, and DEX, each followed by evaluation of adrenal hormones, IGF-1, GH, and body mass index (BMI)...
2016: International Journal of Pediatric Endocrinology
Aikaterini A Nella, Ashwini Mallappa, Ashley F Perritt, Verena Gounden, Parag Kumar, Ninet Sinaii, Lori-Ann Daley, Alexander Ling, Chia-Ying Liu, Steven J Soldin, Deborah P Merke
CONTEXT: Classic congenital adrenal hyperplasia (CAH) management remains challenging, as supraphysiologic glucocorticoid doses are often needed to optimally suppress the ACTH-driven adrenal androgen overproduction. OBJECTIVE: To approximate physiologic cortisol secretion via continuous subcutaneous hydrocortisone infusion (CSHI) and evaluate the safety and efficacy of CSHI in difficult-to-treat CAH patients. DESIGN: Eight adult patients with classic CAH participated in a single-center open label phase I-II study comparing CSHI to conventional oral glucocorticoid treatment...
September 28, 2016: Journal of Clinical Endocrinology and Metabolism
Heino F L Meyer-Bahlburg, Jazmin A Reyes-Portillo, Jananne Khuri, Anke A Ehrhardt, Maria I New
Stigma defined as "undesired differentness" (Goffman, 1963) and subtyped as "experienced" or "enacted," "anticipated," and "internalized" has been documented for patients with diverse chronic diseases. However, no systematic data exist on the association of stigma with somatic intersexuality. The current report concerns women with classical congenital adrenal hyperplasia (CAH), the most prevalent intersex syndrome, and provides descriptive data on CAH-related stigma as experienced in the general social environment (excluding medical settings and romantic/sexual partners) during childhood, adolescence, and adulthood...
September 27, 2016: Archives of Sexual Behavior
Jun-Hyub Jeon, Jong-Man Yoon
Genomic DNAs isolated from crucian carp of four rivers, belonging to the family Cyprinidae was amplified by seven oligonucleotides primers. In the present study, we employed hierarchical clustering method in order to reveal genetic distances and variations. Crucian carp was acquired from Hangang river (CAH), Geumgang river (CAG), Nakdonggang river (CAN) and Yeongsangang river (CAY). The primer BION-12 generated the most loci (a total of 50) with an average of 10 in the CAY population. The primer BION-10 generated the least loci (a total of 19), with an average of 3...
June 2016: Balsaeng'gwa Saengsig
Anna Nordenström, Agnieszka Butwicka, Angelica Lindén Hirschberg, Catarina Almqvist, Agneta Nordenskjöld, Henrik Falhammar, Louise Frisén
BACKGROUND: Congenital adrenal hyperplasia (CAH) is one of the most common monogenic autosomal recessive disorders with an incidence of one in 15 000. About one in 70 individuals in the general population are carriers of a severe CYP21A2 mutation. It has been suggested that this confers a survival advantage, perhaps as a result of increased activity in the hypothalamic-pituitary-adrenal axis. We investigated vulnerability to psychological stress in obligate carriers. METHOD: The Swedish CAH Registry encompasses more than 600 patients...
September 21, 2016: Clinical Endocrinology
Brunel Monic Angounda, Gildas Hoffman Ngouloubi, Amélia Bokilo Dzia, Luc Magloire Anicet Boumba, Warda Baha, Donatien Moukassa, Gabriel Ahombo, Moulay Mustapha Ennaji, Jean-Rosaire Ibara
BACKGROUND: Chronic Hepatitis B infection is a major health problem in Republic of Congo therefore molecular analysis of HBV strains is important to detect the patients at high risk of disease progression. METHODS: Serum samples were obtained from 111 chronic HBV patients in Pointe Noire. HBsAg, HBeAg and HBeAb were detected. A fragment of the preS1 region of HBV was amplified and sequenced to determine genotypes, subgenotypes and to identify mutations. RESULTS: Of the 111 samples analyzed, 35 patients were asymptomatic carriers (ASC), 24 with a chronic active hepatitis (CAH), 33 with liver cirrhosis (LC) and 19 have a hepatocellular carcinoma (HCC)...
2016: Infectious Agents and Cancer
Katja Pollina Wolffenbuttel
No abstract text is available yet for this article.
August 31, 2016: Journal of Pediatric Urology
A Monica Agoston, Maria Teresa Gonzalez-Bolanos, Margaret Semrud-Clikeman, Nancy Vanderburg, Kyriakie Sarafoglou
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disorder characterized by impaired cortisol synthesis leading to excessive production of adrenal androgens. Prenatal and postnatal exposure to excess androgens may increase neural vulnerability to insult and affect cognitive functions, particularly dopamine-dependent neural circuits responsible for executive functioning (EF). Our study aimed to investigate relationship between more pronounced androgen exposure and EF-related behaviors in children with CAH, as well as sex differences in these associations...
September 15, 2016: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
K P Wolffenbuttel, V S Menon, G M Grimsby, M J Ten Kate-Booij, L A Baker
INTRODUCTION: The surgical management of girls with masculinized genitalia is gradually changing towards a more conservative approach. Reports on loss of clitoral sensitivity and related impairment of sexual function in women after feminizing genital surgery in childhood have been pivotal in this evolution. An exposed clitoral glans is occasionally seen at follow-up, and while patients may complain of aesthetics, no clitoral discomfort secondary to glans exposure has been reported. A technique has been developed to reconstruct the clitoral hood and the present study reports the preliminary results...
August 21, 2016: Journal of Pediatric Urology
Paul M Stewart, Beverly Mk Biller, Claudio Marelli, Candace Gunnarsson, Michael P Ryan, Gudmundur Johannsson
CONTEXT: Patients with adrenal insufficiency (AI) (primary [PAI], secondary to pituitary disease [PIT] and congenital adrenal hyperplasia [CAH]) have reduced life expectancy; however, the underlying explanation remains unknown. OBJECTIVE: To evaluate characteristics, comorbidities and hospitalizations in AI patients. DESIGN: Retrospective Observational Setting and Population: Using a US-based national payer database comprising >108 million members, strict inclusion criteria including diagnostic codes and steroid prescription records were used to identify 10,383 adults with AI; 1,014 with PAI, 8,818 with PIT and 551 with CAH...
September 13, 2016: Journal of Clinical Endocrinology and Metabolism
José Ramón Alonso-Fernández
The standard method of primary neonatal screening for congenital adrenal hyperlasia (CAH), determination of 17-hydroxyprogesterone (17OHP) in heelprick blood, is the object of recurrent controversy because of its poor diagnostic and economic efficiency. The superior ability of urinary pregnanetriolone levels to discriminate between infants with and without classical CAH has been known for some time, but has not hitherto been exploited for primary screening. Here we propose an economical neonatal CAH-screening system based on fluorimetric determination of the product of reaction between urinary pregnanetriolone and phosphoric acid...
September 2016: Molecular Genetics and Metabolism Reports
Abdulrahman K Sinno, Elizabeth Peijnenburg, Amanda N Fader, Sarah M Temkin, Rebecca Stone, Kimberly Levinson, Tricia Murdock, Edward J Tanner
OBJECTIVES: To compare the utility of three lymph node (LN) assessment strategies to identify lymphatic metastases while minimizing complete lymphadenectomy rates in women with low-grade endometrial cancer (EC). METHODS: Using our institutional standard protocol (SP), patients with complex atypical hyperplasia (CAH) or grade 1/2 EC underwent sentinel lymph node (SLN) mapping, hysterectomy, and intraoperative frozen section (FS). Lymphadenectomy was performed if high-risk uterine features were identified on FS...
August 24, 2016: Gynecologic Oncology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"