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https://www.readbyqxmd.com/read/28324681/morphometric-mri-features-are-associated-with-surgical-outcome-in-mesial-temporal-lobe-epilepsy-with-hippocampal-sclerosis
#1
Maria Teresa Fernandes Castilho Garcia, Larissa Botelho Gaça, Gabriel Barbosa Sandim, Idaiane Batista Assunção Leme, Henrique Carrete, Ricardo Silva Centeno, João Ricardo Sato, Elza Márcia Targas Yacubian
PURPOSE: Corticoamygdalohippocampectomy (CAH) improves seizure control, quality of life, and decreases mortality for refractory mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS). One-third of patients continue having seizures, and it is pivotal to determine structural abnormalities that might influence the postoperative outcome. Studies indicate that nonhippocampal regions may play a role in the epileptogenic network in MTLE-HS and could generate seizures postoperatively...
March 1, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28320446/an-assessment-of-the-quality-of-the-i-dsd-and-the-i-cah-registries-international-registries-for-rare-conditions-affecting-sex-development
#2
M Kourime, J Bryce, J Jiang, R Nixon, M Rodie, S F Ahmed
BACKGROUND: With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD and I-CAH Registries and identify their strengths and weaknesses. METHODS: The design and operational aspects of the registries were evaluated against published quality indicators. Additional criteria included the level of activity, international acceptability of the registries and their use for research...
March 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28299309/two-siblings-with-the-same-severe-form-of-21-hydroxylase-deficiency-but-different-growth-and-menstrual-cycle-patterns
#3
Mariarosaria Lang-Muritano, Karine Gerster, Susanna Sluka, Daniel Konrad
Congenital adrenal hyperplasia (CAH) is one of the most frequent autosomal recessive diseases in Europe. Treatment is a challenge for pediatric endocrinologists. Important parameters to judge the outcome are adult height and menstrual cycle. We report the follow-up from birth to adulthood of two Caucasian sisters with salt-wasting CAH due to the same mutation, homozygosity c.290-13A>G (I2 splice), in the 21-hydroxylase gene. Their adherence to treatment was excellent. Our objective was to distinguish the effects of treatment with hydrocortisone (HC) and fludrocortisone (FC) on final height (FH) from constitutional factors...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28289431/management-issues-of-congenital-adrenal-hyperplasia-during-the-transition-from-pediatric-to-adult-care
#4
REVIEW
Jin-Ho Choi, Han-Wook Yoo
Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, tumor, osteoporosis, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and health-care providers...
February 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28275658/data-on-the-21-hydroxylase-deficient-cah-patients-and-the-identification-of-known-novel-mutations-in-cyp21a2-gene
#5
Ragini Khajuria, Rama Walia, Anil Bhansali, Rajendra Prasad
This article presents the dataset regarding spectrum of mutations in 21-Hydroxylase deficient CAH patients as described in "The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort" (R. Khajuria, R. Walia, A. Bhansali, R. Prasad, 2017) [1]. This dataset features about the CAH patients in the cohort, their classification into subtypes and finally screening the exon-intron boundaries of 21-Hydroxylase gene (CYP21A2) to detect common mutations, novel mutations along polymorphisms in the CYP21A2 gene...
February 2017: Data in Brief
https://www.readbyqxmd.com/read/28257925/beneficial-effect-of-adipokinetic-hormone-on-neuromuscular-paralysis-in-insect-body-elicited-by-braconid-wasp-venom
#6
Haq Abdul Shaik, Archana Mishra, Dalibor Kodrík
The effect of Habrobracon hebetor venom and the role of the adipokinetic hormone (AKH) in poisoned adult females of the firebug Pyrrhocoris apterus were studied 24 and 48h after treatments. Venom application elicited total neuromuscular paralysis in firebugs, but the co-application of venom and Pyrap-AKH significantly reduced paralysis (up to 3.2 times) compared to the application of venom only. Although the mechanisms of their action are unknown, both agents might affect neuromuscular junctions. Venom application significantly increased the expression of both P...
February 28, 2017: Comparative Biochemistry and Physiology. Toxicology & Pharmacology: CBP
https://www.readbyqxmd.com/read/28242434/rural-general-surgery-a-38-year-experience-with-a-regional-network-established-by-an-integrated-health-system-in-the-midwestern-united%C3%A2-states
#7
Thomas H Cogbill, Marilu Bintz
BACKGROUND: General surgeon (GS) workforce shortages are predicted to worsen, particularly in rural areas. We report on a sustainable model for delivery of GS services within a large rural region that includes an integrated health system. STUDY DESIGN: We conducted a longitudinal study of a rural GS network from 1978 to 2016. Employment data and rural GS survey results were reviewed to document methods of recruitment, retention, and case-volume development. RESULTS: During the 38-year study period, 19 rural GSs were employed by the health system...
February 24, 2017: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/28228528/clinical-genetic-and-structural-basis-of-congenital-adrenal-hyperplasia-due-to-11%C3%AE-hydroxylase-deficiency
#8
Ahmed Khattab, Shozeb Haider, Ameet Kumar, Samarth Dhawan, Dauood Alam, Raquel Romero, James Burns, Di Li, Jessica Estatico, Simran Rahi, Saleel Fatima, Ali Alzahrani, Mona Hafez, Noha Musa, Maryam Razzghy Azar, Najoua Khaloul, Moez Gribaa, Ali Saad, Ilhem Ben Charfeddine, Berenice Bilharinho de Mendonça, Alicia Belgorosky, Katja Dumic, Miroslav Dumic, Javier Aisenberg, Nurgun Kandemir, Ayfer Alikasifoglu, Alev Ozon, Nazli Gonc, Tina Cheng, Ursula Kuhnle-Krahl, Marco Cappa, Paul-Martin Holterhus, Munier A Nour, Daniele Pacaud, Assaf Holtzman, Sun Li, Mone Zaidi, Tony Yuen, Maria I New
Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene encoding 11β-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by 21-hydroxylase deficiency, the disease is far more common in the Middle East and North Africa, where consanguinity is common often resulting in identical mutations. Clinically, affected female newborns are profoundly virilized (Prader score of 4/5), and both genders display significantly advanced bone ages and are oftentimes hypertensive...
March 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28225306/hydrocortisone-therapy-and-growth-trajectory-in-children-with-classical-congenital-adrenal-hyperplasia
#9
Carla Bizzarri, Nicola Improda, Chiara Maggioli, Donatella Capalbo, Silvia Roma, Ottavia Porzio, Mariacarolina Salerno, Marco Cappa
OBJECTIVE: Poor linear growth is one of the main concerns in children with congenital adrenal hyperplasia (CAH). We aimed to analyze factors affecting growth trajectory in children with classical CAH. METHODS: Clinical records of children followed from infancy up to the end of growth at two Italian tertiary referral hospitals were reviewed. Fifty-seven patients (31 males), treated with hydrocortisone and fludrocortisone only, were included. Clinical observations were divided into 3 groups: 0-2 years: 172 observations; from 2 years to puberty onset: 813 observations; after puberty onset: 527 observations...
February 22, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28224294/cardio-metabolic-risk-factors-in-youth-with-classical-21-hydroxylase-deficiency
#10
Kansuda Ariyawatkul, Supatporn Tepmongkol, Suphab Aroonparkmongkol, Taninee Sahakitrungruang
Patients with congenital adrenal hyperplasia (CAH) appear to have adverse cardiovascular risk profile and other long-term health problems in adult life, but there are limited data in young CAH patients. We aim to evaluate the cardio-metabolic risk factors in adolescents and young adults with classical 21-hydroxylase deficiency (21-OHD). We performed a cross-sectional study of 21 patients (17 females) with classic CAH detected clinically and not through newborn screening, aged 15.2 ± 5.8 years, and 21 healthy matched controls...
February 21, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28217529/study-of-awareness-of-adrenal-disorders-among-interns-and-postgraduate-students-of-hamidia-hospital-bhopal
#11
Sachin Chittawar, T N Dubey, Jitendra Sharma, Sagar Khandare
INTRODUCTION: Adrenal disorders could be a life-threatening emergency, hence requires immediate therapeutic management. For this awareness regarding its diagnosis, management, and treatment is prime important. AIMS AND OBJECTIVE: To study the awareness of adrenal disorders among interns and postgraduates students of Hamidia Hospital, Bhopal. MATERIALS AND METHODS: A cross-sectional questionnaire-based study was performed. Fifty-six participants, i...
January 2017: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28199739/obesity-in-children-with-congenital-adrenal-hyperplasia-in-the-minnesota-cohort-importance-of-adjusting-body-mass-index-for-height-age
#12
Kyriakie Sarafoglou, Gregory P Forlenza, O Yaw Addo, Jennifer Kyllo, Aida Lteif, P C Hindmarsh, Anna Petryk, Maria Teresa Gonzalez-Bolanos, Bradley S Miller, William Thomas
OBJECTIVES: To evaluate obesity and overweight in children with congenital adrenal hyperplasia (CAH), and associations with glucocorticoids, fludrocortisone and disease control. Adjusting body mass index for-height-age (BMIHA ) percentile is proposed to correct misclassification of obese/overweight status in CAH children with advanced bone age and tall-for-age stature. DESIGN: Longitudinal. PATIENTS: 194 children with CAH seen from 1970-2013: 124 salt-wasting (SW); 70 simple-virilizing (SV); 102 females...
February 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28192635/risk-factors-for-hospitalization-of-children-with-congenital-adrenal-hyperplasia
#13
Ming Yang, Perrin C White
BACKGROUND AND OBJECTIVES: Patients with congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency are prone to potentially life-threatening adrenal crises. We tried to identify risk factors for post-diagnosis hospitalization for children with the salt wasting form of CAH. METHODS: We reviewed medical records of all children who presented to Children's Medical Center Dallas from 1999 to 2013 with congenital adrenal hyperplasia (ICD-9 code 255.2). RESULTS: 522 unique patients were coded for ICD-9 code of 255...
February 13, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28187248/emergency-department-telemedicine-is-used-for-more-severely-injured-rural-trauma-patients-but-does-not-decrease-transfer-a-cohort-study
#14
Nicholas M Mohr, Karisa K Harland, Elizabeth A Chrischilles, Amanda Bell, Dan M Shane, Marcia M Ward
OBJECTIVES: Traumatic injury is a leading cause of death in the United States, and rural populations are at increased risk of injury and death. Rural residents have limited access to trauma care, and telemedicine has been proposed as one strategy to improve the provision of trauma care locally. The objective of this study was to describe patient-level factors associated with telemedicine consultation in North Dakota critical-access hospital (CAH) emergency departments (EDs) and to measure the association between telemedicine consultation and interhospital transfer...
February 2017: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
https://www.readbyqxmd.com/read/28166399/hierarchical-dual-scale-structures-of-atomically-thin-mos2-for-tunable-wetting
#15
Jonghyun Choi, Jihun Mun, Michael Cai Wang, Ali Ashraf, Sang-Woo Kang, SungWoo Nam
Molybdenum disulfide (MoS2), a well-known solid lubricant for low friction surface coatings, has recently drawn attention as an analogue two-dimensional (2D) material beyond graphene. When patterned to produce vertically grown, nanoflower-structures, MoS2 shows promise as a functional material for hydrogen evolution catalysis systems, electrodes for alkali metal-ion batteries, and field-emission arrays. Whereas the wettability of graphene has been substantially investigated, that of MoS2 structures, especially nanoflowers, has remained relatively unexplored despite MoS2 nanoflower's potential in future applications...
March 8, 2017: Nano Letters
https://www.readbyqxmd.com/read/28155145/histochemical-demonstration-of-tripeptidyl-aminopeptidase-i
#16
Mashenka B Dimitrova, Dimitrinka Y Atanasova, Nikolai E Lazarov
Enzyme histochemical methods are valuable for the studies on the enzyme involvement in different pathological processes. Here we describe two protocols for chromogenic and fluorogenic histochemical demonstration of tripeptidyl aminopeptidase I (TPPI), a protease that is crucial for neuronal functions. The procedures are based on newly synthesized substrates for TPPI-glycyl-L-prolyl-L-metionyl-5-chloro-1-anthraquinonylhydrazide (GPM-CAH) and glycyl-L-prolyl-L-metionyl-4-hydrazido-N-hexyl-1,8-naphthalimide (GPM-HHNI)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28128512/abnormal-mismatch-repair-and-other-clinicopathologic-predictors-of-poor-response-to-progestin-treatment-in-young-women-with-endometrial-complex-atypical-hyperplasia-and-well-differentiated-endometrial-adenocarcinoma-a-consecutive-case-series
#17
M Zakhour, J G Cohen, A Gibson, A E Walts, B Karimian, A Baltayan, C Aoyama, L Garcia, S K Dhaliwal, D Elashoff, M Amneus, C Walsh
OBJECTIVE: To report the response to progestin therapy in young women with endometrial complex atypical hyperplasia (CAH) or FIGO grade 1 endometrial adenocarcinoma (FIGO 1 EAC) based on clinicopathologic features, including abnormal DNA mismatch repair (MMR) by immunohistochemistry (IHC). DESIGN: Consecutive case series. SETTING: Olive View-UCLA Medical Center in Sylmar, CA, USA, and Cedars-Sinai Medical Center in Los Angeles, CA, USA. POPULATION: Women ≤55 years old with CAH or FIGO 1 EAC...
January 27, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28126912/growth-hormone-with-aromatase-inhibitor-may-improve-height-in-cyp11b1-congenital-adrenal-hyperplasia
#18
Katherine Hawton, Sandra Walton-Betancourth, Gill Rumsby, Joseph Raine, Mehul Dattani
With an estimated prevalence of 1 in 100 000 births, 11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in CYP11B1 Clinical features include virilization, early gonadotropin-independent precocious puberty, hypertension, and reduced stature. The current mainstay of management is with glucocorticoids to replace deficient steroids and to minimize adrenal sex hormone overproduction, thus preventing virilization and optimizing growth. We report a patient with CAH who had been suboptimally treated and presented to us at 6 years of age with precocious puberty, hypertension, tall stature, advanced bone age, and a predicted final height of 150 cm...
February 2017: Pediatrics
https://www.readbyqxmd.com/read/28115464/management-of-endocrine-disease-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-update-on-the-management-of-adult-patients-and-prenatal-treatment
#19
REVIEW
Anne Bachelot, Virginie Grouthier, Carine Courtillot, Jérôme Dulon, Philippe Touraine
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is characterized by cortisol and in some cases aldosterone deficiency associated with androgen excess. Goals of treatment are to replace deficient hormones and control androgen excess, while avoiding the adverse effects of exogenous glucocorticoid. Over the last 5 years, cohorts of adults with CAH due to 21-hydroxylase deficiency from Europe and the United States have been described, allowing us to have a better knowledge of long-term complications of the disease and its treatment...
April 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28112329/%C3%AE-diketiminate-calcium-hydride-complexes-the-importance-of-solvent-effects
#20
Andrea Causero, Gerd Ballmann, Jürgen Pahl, Christian Färber, Julia Intemann, Sjoerd Harder
A series of (DIPPnacnac)CaN(SiMe3)2·S complexes (DIPPnacnac = HC[C(Me)N(2,6-iPr-C6H3)]2; S = solvent) could be obtained by the addition of S = THF, DME or N-Me-morpholine (Morph) to (DIPPnacnac)CaN(SiMe3)2·OEt2 or (DIPPnacnac)CaN(SiMe3)2. Crystal structures for complexes with S = DME and Morph are compared to literature-known structures with S = none, THF or Et2O. Bulkier and weaker Lewis bases like the tertiary amines Et3N, TMEDA and DABCO did not interact with (DIPPnacnac)CaN(SiMe3)2. The reaction of (DIPPnacnac)CaN(SiMe3)2 with PhSiH3 gave conversion to a calcium hydride complex that dismutated in (DIPPnacnac)2Ca and CaH2...
January 23, 2017: Dalton Transactions: An International Journal of Inorganic Chemistry
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