Spruce Biosciences Provides Corporate Update on Series A Venture Financing, Leadership Team and Lead Clinical Program
Clinical-stage, rare endocrine disease Company expands leadership team and advances lead candidate for congenital adrenal hyperplasia SAN FRANCISCO, Oct. 12, 2017 -- (Healthcare Sales &Marketing Network) -- Spruce Biosciences, a clinical-stage biotech... Biopharmaceuticals, Venture Capital, Personnel Spruce Biosciences, congenital adrenal hyperplasia
Publication date: Available online 9 October 2020Source: Journal of OrthopaedicsAuthor(s): K. Siddarth Kamath, K.N. Jayakrishna, Ashwath Acharya, Anil K. Bhat
Conclusions: Applying sex- and age-related SD scores to 17-OHP and androgen metabolite concentrations allows for monitoring of hydrocortisone treatment independent of age, sex, assay, and center. We propose that 17-OHP and androgen metabolites expressed as SD scores be implemented as a unifying tool that simplifies research and, in the future, also optimal management of treatment.Horm Res Paediatr
Endocrine Practice,Volume 26, Issue 9, Page 997-1002, September 2020.
Elevated 17-hydroxyprogesterone may be caused by congenital adrenal hyperplasia, ovarian or adrenal tumors. A positive cosyntropin stimulation test result for 17-hydroxyprogesterone may be found in functional or non-functional tumors and be related to tumor size. Here, we present a case of a 36-year-old woman with a 4-year history of infertility. Laboratory test results revealed elevated progesterone and 17-hydroxyprogesterone, with normal luteinizing hormone, follicle-stimulating hormone, estrogen, testosterone, and anti-Mullerian hormone levels. The 250-μg cosyntropin stimulation test revealed a 17-hydroxyprogesterone...
We present a systematic review and meta-analysis that examines the relationship between these two variables. Twelve articles relating to nine CAH cohorts were identified, and 2D:4D comparisons have been made between cases and controls in eight of these cohorts. Altogether, at least one 2D:4D variable has been compared between n = 251 females with CAH and n = 358 unaffected females, and between n = 108 males with CAH and n = 204 unaffected males. A previous meta-analysis (Hönekopp and Watson, 2010) reported lower right hand (R2D:4D) and left hand (L2D:4D) digit ratios in patients with CAH relative to se...
Publication date: Available online 29 August 2020Source: Reproductive BioMedicine OnlineAuthor(s): Ahmad Badeghiesh, Sara Ismail, Haitham Baghlaf, Eva Suarthana, Michael H. Dahan
Congenital adrenal hyperplasia (CAH) with 17 α-hydroxylase deficiency is a rare disease; patients often require lifetime cortisol treatment. In this case report, we presented a patient with CAH and 17α-hydroxyl...
ConclusionIn this study, we identified the mutation spectrum ofCYP21A2 gene in Chinese patients, especially the younger age cohort in pediatrics. Micro ‐conversions were the most popular mutations. Moreover, the genotypes and phenotypes were well correlated in this cohort of salt wasting 21‐OHD recruited from neonatal intensive care unit.
CONCLUSION: We determined etiologies in 86.3% of children with non-CAH PAI through specific clinical and laboratory findings with/without molecular analysis of candidate genes. ALD was the most common etiology. Nowadays, advanced molecular analyse can be utilized to establish a specific genetic diagnosis of PAI for patients who have no specific diagnostic features. PMID: 32938577 [PubMed - as supplied by publisher]
ConclusionsWe have developed and validated a comprehensive NGS-based assay for detection of variants inCYP21A2 gene in patients with 21-OH CAH. We describeCYP21A2 mutation spectrum and novel variants in a large cohort of Indian patients with CAH.