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https://www.readbyqxmd.com/read/29149458/hormone-therapy-and-patients-satisfaction-with-treatment-in-a-large-cohort-of-diverse-disorders-of-sex-development-dsd
#1
Anna Nordenström, Robert Röhle, Ute Thyen, Claire Bouvattier, Jolanta Slowikowska-Hilczer, Nicole Reisch, Hedi Claahsen van der Grinten, Aude Brac de la Perriere, Peggy T Cohen-Kettenis, Birgit Köhler
OBJECTIVES: To describe and investigate the hormone treatments in individuals with different forms of disorders of sex development (DSD), and the patients own views on their treatment. DESIGN: Multicentre cross-sectional clinical evaluation, dsd-LIFE in six European countries from 02/2014 to 09/2015. PARTICIPANTS: 1040 adolescents and adults (≥16 years) with different DSD conditions. MAIN OUTCOMES MEASURES: Hormone replacement, information received and patient satisfaction...
November 17, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29148812/behavior-of-a-liquid-bridge-between-nonparallel-hydrophobic-surfaces
#2
Mohammadmehdi Ataei, Huanchen Chen, Alidad Amirfazli
When a liquid bridge is formed between two nonparallel identical surfaces, it can move along the surfaces. Literature indicates that the direction of bridge movement is governed by the wettability of surfaces. When the surfaces are hydrophilic, the motion of the bridge is always towards the cusp (intersection of the plane of the two bounding surfaces). While, the movement is hitherto thought to be always pointing away from the cusp, when the surfaces are hydrophobic. In this study, through experiments, numerical simulations, and analytical reasoning, we demonstrate that for hydrophobic surfaces, wettability is not the only factor determining the direction of the motion...
November 17, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/29144824/17%C3%AE-hydroxylase-deficiency-is-an-underdiagnosed-disease-high-frequency-of-misdiagnoses-in-a-large-cohort-of-brazilian-patients
#3
Rafaela Fontenele, Marivânia Costa-Santos, Claudio E Kater
OBJECTIVE: 17α-Hydroxylase deficiency (P450c17D) is characterized by hypogonadism and mineralocorticoid hypertension. We aimed to estimate the relative incidence and spectrum of preliminary misdiagnoses in Brazilian P450c17D patients. DESIGN: Cross-sectional study. METHODS: We reviewed, updated, and analyzed data of 40 P450c17D patients (21 XY, 19 XX). RESULTS: Complete data were unavailable for two patients. Seven patients were relatives of an index case...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29127765/high-aldosterone-and-cortisol-levels-in-salt-wasting-congenital-adrenal-hyperplasia-a-clinical-conundrum
#4
Sirisha Kusuma Boddu, Sheeja Madhavan
BACKGROUND: Salt wasting syndrome (hyponatremia, hyperkalemia, dehydration, metabolic acidosis) in early infancy could be caused by either mineralocorticoid deficiency as in congenital adrenal hyperplasia (CAH) and adrenal insufficiency or mineralocorticoid resistance as in pseudohypoaldosteronism (PHA). In salt wasting CAH, serum aldosterone and cortisol levels are expected to be low. Cross reactivity between high levels of adrenal steroid precursors and aldosterone has recently been reported resulting in elevated aldosterone levels in CAH, leading to difficulty in differentiating between CAH and PHA...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29119739/fertility-outcomes-in-infertile-women-with-complex-hyperplasia-or-complex-atypical-hyperplasia-who-received-progestin-therapy-and-in-vitro-fertilization
#5
Miao Li, Jia-Lun Song, Ying Zhao, She-Ling Wu, Hong-Bin Liu, Rong Tang, Lei Yan
This study aimed to evaluate fertility and oncologic outcomes in women with complex hyperplasia (CH) or complex atypical hyperplasia (CAH) who received fertility-sparing therapy and in vitro fertilization (IVF). Endometrial carcinoma is the most common carcinoma of the female genital tract, and is associated with endometrial hyperplasia (EH) resulting from long-term unopposed estrogenic stimulation of the endometrium. EH is characterized by non-physiological proliferation of endometrium that results in glands with irregular shapes and varying sizes...
2017: Journal of Zhejiang University. Science. B
https://www.readbyqxmd.com/read/29118987/massive-adrenal-incidentalomas-and-late-diagnosis-of-congenital-adrenal-hyperplasia-in-prostate-cancer
#6
Xin Feng, Gregory Kline
In a 61-year-old Caucasian male with prostate cancer, leuprolide and bicalutamide failed to suppress the androgens. He presented to endocrinology with persistently normal testosterone and incidental massive (up to 18 cm) bilateral adrenal myelolipomas on CT scan. Blood test did not reveal metanephrine excess. The patient was noted to have short stature (151 cm) and primary infertility. Elementary school photographs demonstrated precocious puberty. Physical examination revealed palpable abdominal (adrenal) masses...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29073619/sodium-chloride-supplementation-is-not-routinely-performed-in-the-majority-of-german-and-austrian-infants-with-classic-salt-wasting-congenital-adrenal-hyperplasia-and-has-no-effect-on-linear-growth-and-hydrocortisone-or-fludrocortisone-dose
#7
Walter Bonfig, Friedhelm Roehl, Stefan Riedl, Jürgen Brämswig, Annette Richter-Unruh, Susanne Fricke-Otto, Angela Hübner, Markus Bettendorf, Eckhard Schönau, Helmut Dörr, Reinhard W Holl, Klaus Mohnike
INTRODUCTION: Sodium chloride supplementation in salt-wasting congenital adrenal hyperplasia (CAH) is generally recommended in infants, but its implementation in routine care is very heterogeneous. OBJECTIVE: To evaluate oral sodium chloride supplementation, growth, and hydrocortisone and fludrocortisone dose in infants with salt-wasting CAH due to 21-hydroxylase in 311 infants from the AQUAPE CAH database. RESULTS: Of 358 patients with classic CAH born between 1999 and 2015, 311 patients had salt-wasting CAH (133 females, 178 males)...
October 26, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29056680/animal-models-of-cancer-associated-hypercalcemia
#8
REVIEW
Nicole A Kohart, Said M Elshafae, Justin T Breitbach, Thomas J Rosol
Cancer-associated hypercalcemia (CAH) is a frequently-occurring paraneoplastic syndrome that contributes to substantial patient morbidity and occurs in both humans and animals. Patients with CAH are often characterized by markedly elevated serum calcium concentrations that result in a range of clinical symptoms involving the nervous, gastrointestinal and urinary systems. CAH is caused by two principle mechanisms; humorally-mediated and/or through local osteolytic bone metastasis resulting in excessive calcium release from resorbed bone...
April 13, 2017: Veterinary Sciences
https://www.readbyqxmd.com/read/29054868/conditional-function-of-autoaggregative-protein-cah-and-common-cah-mutations-in-shiga-toxin-producing-escherichia-coli
#9
Michelle Qiu Carter, Maria T Brandl, Indira T Kudva, Robab Katani, Matthew R Moreau, Vivek Kapur
Cah is a calcium-binding autotransporter protein involved in autoaggregation and biofilm formation. Although cah is widespread in Shiga toxin-producing Escherichia coli (STEC), we detected mutations in cah at a frequency of 31.3% in this pathogen. In STEC O157:H7 super-shedder strain SS17, a large deletion results in a smaller coding sequence, lacking the C-terminal 71 amino acids compared with Cah in STEC O157:H7 strain EDL933. We examined the function of Cah in biofilm formation and host colonization to better understand selective pressures for cah mutations...
October 20, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29046104/how-the-child-s-gender-matters-for-families-having-a-child-with-congenital-adrenal-hyperplasia
#10
Louise Fleming, Kathleen Knafl, Marcia Van Riper
Children with congenital adrenal hyperplasia (CAH) are exposed to high levels of testosterone in utero often resulting in nontypical genitalia at birth for girls. The purpose of this analysis, which draws on data from a larger study, was to examine, based on the gender of the child, the family experiences of having a child with CAH. Sixteen parents were interviewed, and comparisons were made across all categories coded in the parents' interviews to examine similarities and differences in the experiences of families based on the child's gender...
October 1, 2017: Journal of Family Nursing
https://www.readbyqxmd.com/read/29035424/cyp21a2-mutation-update-comprehensive-analysis-of-databases-and-published-genetic-variants
#11
Leandro Simonetti, Carlos D Bruque, Cecilia S Fernández, Belén Benavides-Mori, Marisol Delea, Jorge E Kolomenski, Lucía D Espeche, Noemí D Buzzalino, Alejandro D Nadra, Liliana Dain
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21-hydroxylation account for over 95% of patients with CAH. Clinically, the 21-hydroxylase deficiency has been classified in a broad spectrum of clinical forms, ranging from severe or classical, to mild late onset or non-classical. Known allelic variants in the disease causing CYP21A2 gene are spread among different sources. Until recently, most variants reported have been identified in the clinical setting, which presumably bias described variants to pathogenic ones, as those found in the CYPAlleles database...
October 16, 2017: Human Mutation
https://www.readbyqxmd.com/read/29029106/iatrogenic-cushing-syndrome-in-a-child-with-congenital-adrenal-hyperplasia-erroneous-compounding-of-hydrocortisone
#12
Julia E Barillas, Daniel Eichner, Ryan Van Wagoner, Phyllis W Speiser
Context: Patients with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) require lifelong treatment with glucocorticoids. In growing children the drug of choice is hydrocortisone. Commercially available hydrocortisone tablets do not conform to very low doses prescribed to infants and toddlers, and compounded hydrocortisone is often dispensed to meet therapeutic needs. However, safety, efficacy and uniformity of compounded products are not tested. We report a case of Cushing syndrome in a child with CAH who was inadvertently receiving excessive hydrocortisone in compounded form...
September 28, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29019745/imaging-of-nonmalignant-adrenal-lesions-in-children
#13
Kiran M Sargar, Geetika Khanna, Rebecca Hulett Bowling
The adrenal glands in children can be affected by a variety of benign lesions. The diagnosis of adrenal lesions can be challenging, but assessment of morphologic changes in correlation with the clinical presentation can lead to an accurate diagnosis. These lesions can be classified by their cause: congenital (eg, discoid adrenal gland, horseshoe adrenal gland, and epithelial cysts), vascular and/or traumatic (eg, adrenal hemorrhage), infectious (eg, granulomatous diseases), enzyme deficiency disorders (eg, congenital adrenal hyperplasia [CAH] and Wolman disease), benign neoplasms (eg, pheochromocytomas, ganglioneuromas, adrenal adenomas, and myelolipomas), and adrenal mass mimics (eg, extralobar sequestration and extramedullary hematopoiesis)...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29017080/prognostic-significance-of-postoperative-spikes-varied-in-different-surgical-procedures-for-mesial-temporal-sclerosis
#14
Hsiang-Yu Yu, Sanford P C Hsu, Chun-Fu Lin, Yang-Hsin Shih, Der-Jen Yen, Shang-Yeong Kwan, Chien Chen, Chien-Chen Chou
PURPOSE: We conducted this study to compare the occurrence and prognostic significance of early postoperative interictal epileptiform discharges (IEDs) on seizure outcomes between corticoamygdalohippocampectomy (CAH) and selective amygdalohippocampectomy (SAH). METHODS: We reviewed our database of patients who had epilepsy surgery with hippocampus atrophy or signal changes on brain MRIs and pathology of mesial temporal sclerosis. One hundred and seventy-seven CAH and 39 SAH patients were enrolled...
October 3, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28986185/fertility-sparing-management-using-progestin-for-young-women-with-endometrial-cancer-from-a-population-based-study
#15
Soyoun Rachel Kim, Carlijn van der Zanden, Habibe Ikiz, Boris Kuzelijevic, Jon Havelock, Janice S Kwon
OBJECTIVE: For young women with complex atypical endometrial hyperplasia (CAH) and endometrial cancer (EC) who choose to preserve fertility, progestin therapy is the mainstay of treatment. The objective of this study was to evaluate oncologic and reproductive outcomes associated with progestin therapy among these women from a population-based cancer registry. METHODS: This was a retrospective population-based cohort study of women under age 45 in British Columbia from 2003 to 2015 with CAH or grade I endometrioid EC who used progestins as initial management...
October 3, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28985742/health-related-quality-of-life-in-children-with-congenital-adrenal-hyperplasia
#16
Alyssa Halper, Mary C Hooke, Maria Teresa Gonzalez-Bolanos, Nancy Vanderburg, Thang N Tran, Jane Torkelson, Kyriakie Sarafoglou
BACKGROUND: Children with congenital adrenal hyperplasia (CAH) require life-long glucocorticoid replacement and have daily intermittent hyper/hypocortisolemia and hyperandrogenemia. Health-related quality of life (HRQL) is important for understanding the impact the disease and therapy have on physical, mental, emotional, and social functioning. Little is known about HRQL in CAH. We compared HRQL in children with CAH to healthy norms and examined how these scores related to physiologic variables...
October 6, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28984256/neonatal-endocrine-labomas-pitfalls-and-challenges-in-reporting-neonatal-hormonal-reports
#17
Sachin Chittawar, Deep Dutta, Deepak Khandelwal, Rajiv Singla
This review highlights pitfalls and challenges in interpreting neonatal hormone reports. Pre-analytical errors contribute to nearly 50% of all errors. Modern chemiluminescence assay are more accurate, have lower risk of Hook's effect, but continue to have problems of assay interference. Liquid chromatography mass spectroscopy is gold standard for most hormone assays. Neonatal hypoglycemia diagnostic cut-offs are lower than adults. Random growth hormone testing is of value in diagnosing growth hormone deficiency in neonates...
September 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28978135/preoperative-imaging-markers-and-pdz-binding-kinase-tissue-expression-predict-low-risk-disease-in-endometrial-hyperplasias-and-low-grade-cancers
#18
Anna Berg, Ankush Gulati, Sigmund Ytre-Hauge, Kristine E Fasmer, Karen K Mauland, Erling A Hoivik, Jenny A Husby, Ingvild L Tangen, Jone Trovik, Mari K Halle, Ingunn Stefansson, Lars A Akslen, Kathrine Woie, Line Bjørge, Helga B Salvesen, Øyvind O Salvesen, Henrica M J Werner, Ingfrid S Haldorsen, Camilla Krakstad
PURPOSE: Distinguishing complex atypical hyperplasia (CAH) from grade 1 endometrioid endometrial cancer (EECG1) preoperatively may be valuable in order to prevent surgical overtreatment, particularly in patients wishing preserved fertility or in patients carrying increased risk of perioperative complications. MATERIAL AND METHODS: Preoperative histological diagnosis and radiological findings were compared to final histological diagnosis in patients diagnosed with CAH and EECG1...
September 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28962970/a-high-rate-of-novel-cyp11b1-mutations-in-saudi-arabia
#19
Ali S Alzahrani, Meshael M Alswailem, Avaniyapuram Kannan Murugan, Doha S Alhomaidah, Cameron P Capper, Richard J Auchus, Ebtesam Qasem, Ohoud S Alzahrani, Afaf Al-Sagheir, Bassam Bin-Abbas
Despite ethnic variation, 11 β-hydroxylase deficiency (11β-OHD) has generally been considered the second most common subtype of congenital adrenal hyperplasia (CAH). We report a high rate of novel mutations in this gene (CYP11B1) in patients from Saudi Arabia. We studied 16 patients with 11β-OHD from 8 unrelated families. DNA was isolated from peripheral blood. The 9 exons and exon-intron boundaries of CYP11B1 were PCR-amplified and directly sequenced. The novel mutations were functionally characterized using subcloning, in vitro mutagenesis, cell transfection and 11-deoxycortisol: cortisol conversion assays...
November 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28956783/congenital-adrenal-hyperplasia-as-a-cause-of-adrenal-incidentaloma
#20
E Buitenwerf, T P Links, I P Kema, M L Haadsma, M N Kerstens
Congenital adrenal hyperplasia (CAH) can present as a benign adrenal tumour, which should be treated medically. The diagnosis of CAH must be considered in a patient presenting with adrenal incidentaloma in order to avoid unnecessary adrenalectomy. Urinary steroid profiling is a useful diagnostic tool to identify the presence of CAH.
September 2017: Netherlands Journal of Medicine
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