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https://www.readbyqxmd.com/read/29791178/-rare-combination-of-turner-syndrome-and-congenital-adrenal-hyperplasia-with-21-hydroxylase-deficiency-case-report
#1
Ivana Ságová, Matej Stančík, Dušan Pavai, Daniela Kantárová, Anton Vaňuga, Peter Vaňuga
Combination of Turner syndrome (TS) and classic congenital adrenal hyperplasia (CAH) is rare. Globally, the incidence of CAH, autosomal recessive disorder caused by enzyme defect of steroidogenic pathway, is very low (1 : 10 000-16 000). 90 % of CAH cases are caused by 21-hydroxylase gene mutation (CYP21A2). Globally, the incidencie of Turner syndrome reaches 1 : 2 500. Phenotypically, females with TS may render wide spectrum of clinical features. Dominant symptoms are lowered terminal height and gonadal dysgenesia, ultimately leading to absence of puberty and infertility...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29790348/bioinspired-photocatalytic-shark-skin-surfaces-with-antibacterial-and-antifouling-activity-via-nanoimprint-lithography
#2
Feyza Dundar Arisoy, Kristopher W Kolewe, Benjamin Homyak, Irene S Kurtz, Jessica D Schiffman, James J Watkins
By combining antifouling shark skin patterns with antibacterial titanium dioxide (TiO2) nanoparticles (NPs), we present a simple route towards producing durable multifunctional surfaces that decrease microbial attachment and inactivate attached microorganisms. Norland Optical Adhesive (NOA), a UV-crosslinkable adhesive material was loaded with 0, 10, or 50 wt% TiO2 NPs from which shark skin microstructures were imprinted using solvent-assisted soft nanoimprint lithography on a polyethylene terephthalate (PET) substrate...
May 23, 2018: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/29785371/case-report-clitoromegaly-as-a-consequence-of-congenital-adrenal-hyperplasia-an-accurate-medical-and-surgical-approach
#3
Augusto Rafael Fernandez-Aristi, Andre Alonso Taco-Masias, Luis Montesinos-Baca
We present a case of a woman with a history of Congenital Adrenal Hyperplasia (CAH) diagnosed at the age of 12, who was referred to our unit for surgical treatment. Despite the initial diagnosis was an indirect inguinal hernia, it was a misdiagnosis. Once in our service, this was corrected into clitoromegaly secondary to CAH. Physical examination and imaging test discarded other abnormalities, such as secondary effects androgenization. Regarding surgical treatment, the techniques used were Spencer and Allen combined with Kumar, which are the most used for clitoroplasty but also less used in Peru...
May 2018: Urology Case Reports
https://www.readbyqxmd.com/read/29755801/central-hypoventilation-a-rare-complication-of-wallenberg-syndrome
#4
Keithan Sivakumar, Manveer Garcha, Dev Mehta, Megan C Leary, Hussam A Yacoub
Central alveolar hypoventilation disorders denote conditions resulting from underlying neurologic disorders affecting the sensors, the central controller, or the integration of those signals leading to insufficient ventilation and reduction in partial pressures of oxygen. We report a patient who presented with a left lateral medullary ischemic stroke after aneurysm repair who subsequently developed a rare complication of CAH. Increased awareness of this condition's clinical manifestations is crucial to make an accurate diagnosis and understand its complications and prognosis...
2018: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/29750654/initial-presentations-and-associated-clinical-findings-in-patients-with-classical-congenital-adrenal-hyperplasia
#5
Asmaa Adel Milyani, Abdulmoein Eid Al-Agha, Mashael Al-Zanbagi
BACKGROUND: The objective of this study was to investigate the initial presenting features of children with classical congenital adrenal hyperplasia (CAH). METHODS: This is a descriptive retrospective study over a period of 5 years. Data analysis was performed using Statistical Package for Social Science. RESULTS: Ambiguous genitalia (AG) was the commonest initial presentation marking 50.7% of the patients. On the other hand, 33.3% presented with a salt-losing crisis, 4...
May 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29734195/tenascin-x-congenital-adrenal-hyperplasia-and-the-cah-x-syndrome
#6
Walter L Miller, Deborah P Merke
Mutations of the CYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). The CYP21A2 gene is partially overlapped by the TNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles of TNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). Rarely, patients with severe, salt-wasting CAH have deletions of CYP21A2 that extend into TNXB, resulting in a "contiguous gene syndrome" consisting of CAH and EDS...
May 7, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29733056/asociaci%C3%A3-n-de-leptina-con-factores-cardiometab%C3%A3-licos-en-escolares-y-adolescentes-con-hiperplasia-suprarrenal-cong%C3%A3-nita
#7
Jessie Nallely Zurita-Cruz, Miguel Ángel Villasís-Keever, Leticia Damasio-Santana, Leticia Manuel-Apolinar, Rosalba Ferrusca-Ceja, Elisa Nishimura-Meguro, Aleida de J Rivera-Hernández, Eulalia Garrido-Magaña
Introducción: En la hiperplasia suprarrenal congénita (HSC), la obesidad, la hiperinsulinemia y los niveles de leptina se encuentran incrementados. Objetivo: Identificar la frecuencia de los factores de riesgo cardiometabólico (FRC) en niños y adolescentes con HSC y explorar la relación con los niveles de leptina. Método: Estudio transversal de 40 pacientes a quienes se realizó somatometría y evaluación de glucosa, insulina, triglicéridos, 17-hidroxiprogesterona, leptina, colesterol HDL y LDL en ayuno...
2018: Gaceta Médica de México
https://www.readbyqxmd.com/read/29720511/prednisolone-is-associated-with-a-worse-bone-mineral-density-in-primary-adrenal-insufficiency
#8
Kathrin Frey, Tina Kienitz, Julia Schulz, Manfred Ventz, Kathrin Zopf, Marcus Quinkler
CONTEXT: Patients with primary adrenal insufficiency (PAI) or congenital adrenal hyperplasia (CAH) receive life-long glucocorticoid (GC) therapy. Daily GC doses are often above the physiological cortisol production rate and can cause long-term morbidities such as osteoporosis. No prospective trial has investigated long-term effect of different GC-therapies on bone mineral density (BMD) in those patients. OBJECTIVES: To determine if patients on hydrocortisone (HC) or prednisolone show changes in BMD after follow-up of 5...
May 2, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29718004/update-on-diagnosis-and-management-of-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency
#9
Perrin C White
PURPOSE OF REVIEW: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a relatively common inherited disorder of cortisol biosynthesis that can be fatal if untreated. RECENT FINDINGS: The basic biochemistry and genetics of CAH have been known for decades but continue to be refined by the discoveries of an alternative 'backdoor' metabolic pathway for adrenal androgen synthesis and the secretion of 11-hydroxy and 11-keto analogs of known androgens, by the elucidation of hundreds of new mutations, and by the application of high-throughput sequencing techniques to noninvasive prenatal diagnosis...
June 2018: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29710853/comparison-of-the-hepatoprotective-effects-of-four-endemic-cirsium-species-extracts-from-taiwan-on-ccl%C3%A2-induced-acute-liver-damage-in-c57bl-6-mice
#10
Zi-Wei Zhao, Jen-Chih Chang, Li-Wei Lin, Fan-Hsuan Tsai, Hung-Chi Chang, Chi-Rei Wu
Species of Cirsium (Asteraceae family) have been used in folk hepatoprotective medicine in Taiwan. We collected four Cirsium species—including the aerial part of Cirsium arisanense (CAH), the aerial part of Cirsium kawakamii (CKH), the flower part of Cirsium japonicum DC. var. australe (CJF), and Cirsii Herba (CH)—and then made extractions from them with 70% methanol. We compared the antioxidant contents and activities of these four Cirsium species extracts by a spectrophotometric method and high-performance liquid chromatography⁻photodiode array detector (HPLC-DAD)...
April 30, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29701025/-advances-in-biotic-and-abiotic-mutual-promoting-mechanism-for-chlorinated-aliphatic-hydrocarbons-degradation
#11
Shuai Liu, Tiantao Zhao, Zhilin Xing, Xu Yang, Eryu Wang
Chlorinated aliphatic hydrocarbons (CAHs) with characteristics of high toxicity, biological accumulation and recalcitrance to degradation as well as carcinogenicity, teratogenesis and mutagenicity, are seriously harmful to human health and ecological environment. CAHs degradation depends on biotic and abiotic responses that exist diversified interactive effects, so it is important to clarify the mechanism of CAHs degradation via biotic and abiotic mutual promoting to significantly enhance the CAHs-contaminated site restoration...
April 25, 2018: Sheng Wu Gong Cheng Xue Bao, Chinese Journal of Biotechnology
https://www.readbyqxmd.com/read/29694956/multiples-of-median-transformed-normalized-reference-ranges-of-steroid-profiling-data-independent-of-age-sex-and-units
#12
Dominika Zalas, Thomas Reinehr, Marek Niedziela, Christoph Borzikowsky, Maciej Flader, Gunter Simic-Schleicher, Halit Ilker Akkurt, Sabine Heger, Nadine Hornig, Paul-Martin Holterhus, Alexandra E Kulle
BACKGROUND/AIMS: The high complexity of pediatric reference ranges across age, sex, and units impairs clinical application and comparability of steroid hormone data, e.g., in congenital adrenal hyperplasia (CAH). We developed a multiples-of-median (MoM) normalization tool to overcome this major drawback in pediatric endocrinology. METHODS: Liquid chromatography tandem mass spectrometry data comprising 10 steroid hormones representing 905 controls (555 males, 350 females, 0 to > 16 years) from 2 previous datasets were MoM transformed across age and sex...
April 25, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29694951/vanishing-17-hydroxyprogesterone-concentrations-in-21-hydroxylase-deficiency
#13
Thomas Reinehr, Juliane Rothermel, Andreas Wegener-Panzer, Michaela F Hartmann, Stefan A Wudy, Paul-Martin Holterhus
We present a boy with a genetically proven congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. While massively elevated 17-hydroxyprogesterone (17-OHP) concentrations after birth led to the diagnosis, 17-OHP concentrations became immeasurable starting with the second year of life even though the dose of hydrocortisone was continuously decreased to ∼7 mg/m2/day. Furthermore, 17-OHP levels were immeasurable during the ACTH test and after withdrawing hydrocortisone medication. In contrast, ACTH levels increased after cessation of hydrocortisone treatment suggesting complete primary adrenal cortex failure...
April 25, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29688667/distribution-of-disproportionate-share-hospital-payments-to-rural-and-critical-access-hospitals
#14
Erin M Mobley, Fred Ullrich, Keith J Mueller
Purpose: This policy brief provides data assessing effects of Medicaid Disproportionate Share Hospital (DSH) payment on rural hospitals in 47 states. While the allocation of DSH funds to the state is determined by federal legislation utilizing a formula developed by the Centers for Medicare & Medicaid Services (CMS), each state determines distribution to hospitals using an approved State Plan Amendment (SPA) that meets minimum federal requirements. Our findings suggest that distribution to rural hospitals, and critical access hospitals (CAHs) in particular, varies considerably across states...
November 1, 2017: Rural Policy Brief
https://www.readbyqxmd.com/read/29684512/functional-characterization-and-molecular-modeling-of-the-mutations-in-cyp21a2-gene-from-patients-with-congenital-adrenal-hyperplasia
#15
Ragini Khajuria, Rama Walia, Anil Bhansali, Rajendra Prasad
Steroid 21-Hydroxylase deficiency is an inherited autosomal recessive metabolic disorder of the adrenal steroidogenesis caused due to mutations in the CYP21A2 gene in 95% of CAH cases. Notably, the de novo mutations arise at the rate of 3-5%, therefore the functional characterization is of utmost importance for categorization of the novel mutations. Herein, we have functionally characterized the CYP21A2 missense mutations viz., p. F306V and p. H365 N. Notably, both the mutations were harbored by the patients exhibiting the non classical phenotype...
April 20, 2018: Biochimie
https://www.readbyqxmd.com/read/29656794/immunohistochemistry-for-mismatch-repair-protein-deficiency-in-endometrioid-endometrial-carcinoma-yields-equivalent-results-when-performed-on-endometrial-biopsy-curettage-or-hysterectomy-specimens
#16
David B Chapel, S Diane Yamada, Matthew Cowan, Ricardo R Lastra
OBJECTIVE: Universal screening of endometrial cancer (EC) for Lynch syndrome (LS) has been increasingly implemented in the past five to ten years. Most pathologists initiate screening with immunohistochemistry (IHC) for mismatch repair proteins (MMRPs), using either pre-surgical samplings (endometrial biopsy or curettage, EMB/C) or hysterectomy specimens. We report a systematic assessment of the equivalence of IHC for LS screening on EMB/C versus hysterectomy specimens. METHODS: We identified 99 patients diagnosed with endometrioid EC and performed IHC for MMRPs MLH1, MSH2, MSH6, and PMS2 on their diagnostic EMB/C and paired hysterectomy specimen...
April 13, 2018: Gynecologic Oncology
https://www.readbyqxmd.com/read/29626607/prevalence-clinical-characteristics-and-long-term-outcomes-of-classical-11-%C3%AE-hydroxylase-deficiency-11bohd-in-turkish-population-and-novel-mutations-in-cyp11b1-gene
#17
Firdevs Baş, Güven Toksoy, Berrin Ergun-Longmire, Zehra Oya Uyguner, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Volkan Karaman, Şahin Avcı, Umut Altunoğlu, Ruveyde Bundak, Birsen Karaman, Seher Başaran, Feyza Darendeliler
Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11BOHD) is a rare autosomal recessive disorder and the second most common form of CAH. AIM: To investigate genotype-phenotype correlation and to evaluate clinical characteristics and long-term outcomes of patients with 11BOHD. METHODS: A total of 28 patients (n = 14, 46,XX; n = 14, 46,XY) with classical 11BOHD from 25 unrelated families were included in this study. Screening of CYP11B1 is performed by Sanger sequencing...
April 4, 2018: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29625365/morphometric-mri-features-and-surgical-outcome-in-patients-with-epilepsy-related-to-hippocampal-sclerosis-and-low-intellectual-quotient
#18
Larissa Botelho Gaça, Maria Teresa Fernandes Castilho Garcia, Gabriel Barbosa Sandim, Idaiane Batista Assumption Leme, Maria Helena Silva Noffs, Henrique Carrete, Ricardo Silva Centeno, João Ricardo Sato, Elza Márcia Targas Yacubian
OBJECTIVE: The objectives of this study were to verify in a series of patients with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) if those with low intellectual quotient (IQ) levels have more extended areas of atrophy compared with those with higher IQ levels and to analyze whether IQ could be a variable implicated on a surgical outcome. MATERIAL AND METHODS: Patients (n=106) with refractory MTLE-HS submitted to corticoamygdalohippocampectomy (CAH) (57 left mesial temporal lobe epilepsy (MTLE); 45 males) were enrolled...
April 3, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29615074/a-klinefelter-boy-with-congenital-adrenal-hyperplasia-too-much-or-too-little-androgens
#19
Giada Zanella, Gianluca Tornese, Elisabetta Mascheroni, Elena Faleschini, Alessandro Ventura, Egidio Barbi
BACKGROUND: The simultaneous occurrence of Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) is an exceptional event: there are just three case reports (two children and a 51 years old man) describing males affected by both KS and 21OHD (21-hydroxylase deficiency) CAH, the first causing androgen deficiency, the latter leading to androgen excess. CASE REPORT: We report the 4th case of association of KS and CAH in a young man with CAH with good androgen control and with normal secondary sex characteristics, whose Klinefelter syndrome was diagnosed because of reduced testicular volume...
April 3, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29615040/multicentre-cross-sectional-clinical-evaluation-study-about-quality-of-life-in-adults-with-disorders-differences-of-sex-development-dsd-compared-to-country-specific-reference-populations-dsd-life
#20
Marion Rapp, Esther Mueller-Godeffroy, Peter Lee, Robert Roehle, Baudewijntje P C Kreukels, Birgit Köhler, Anna Nordenström, Claire Bouvattier, Ute Thyen
BACKGROUND: Previous studies in quality of life (QOL) in individuals with disorders/differences of sex development (DSD) have been restricted to subpopulations of the condition. We describe QOL in adult persons with DSD compared to country specific references and assess the impact of diagnosis. METHODS: The multicentre cross-sectional clinical evaluation (dsd-LIFE) took place in 14 specialized clinics in six European countries. Adolescents (≥16 years) and adults having a DSD condition were included from 02/2014 to 09/2015...
April 3, 2018: Health and Quality of Life Outcomes
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