Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study reviewed the current understanding of congenital adrenal hyperplasia from 21-hydroxylase deficiency, highlighting the impact of universal newborn screening in reducing mortality and discussing ongoing treatment challenges and future therapeutic prospects.

This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.

This article discusses the challenges in diagnosing and treating hidradenitis suppurativa, a recurrent skin disease, noting the lack of effective treatments and the need for more research, but it reports no new findings.

This study suggests that individuals with severe sickle cell disease, indicated by higher hemoglobin S and ferritin levels, may have lower cortisol levels as shown by reduced hair cortisol content.

In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.

This study observed that mice with a whole-body deficiency of Cystathionine-β-synthase developed severe hyperhomocysteinemia and related mild symptoms without increased mortality, indicating HHCy may not directly cause end organ damage.

This study found that hair cortisol concentrations in mother-daughter pairs are a potential biomarker for cortisol responses to chronic stress, with daughter-mother similarities affected by parenting styles and children's symptoms.

This case report details a 71-year-old man diagnosed with Cronkhite-Canada Syndrome, highlighting the importance of early diagnosis and endoscopic evaluation due to the disease's progressive nature and significant mortality risk.

This review discusses the challenges in diagnosing different causes of adult androgen excess and outlines current screening and management strategies but reports no new findings.

This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.

This case report of a 17-year-old with salt-wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency found that increasing the mineralocorticoid dose relieved daily headaches and reduced salt cravings.

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

This case study reports the clinical features of triple H syndrome in a 25-year-old man, including ACTH deficiency, alopecia universalis, and anterograde amnesia, which were improved with hydrocortisone treatment.

This study reports the first documented case of Cronkhite-Canada syndrome in a patient with myelodysplastic syndrome, where corticosteroids dramatically improved the patient's condition.

This review explores the hormonal factors related to hidradenitis suppurativa, emphasizing insulin resistance and pro-inflammatory adipokines, but reports no new clinical findings and suggests further research is needed.

This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.

In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.

Secukinumab reduces immune activity in hidradenitis suppurativa skin.

This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.

This review discusses the genetic, autoinflammatory, and keratinization factors involved in hidradenitis suppurativa and presents the concept of classifying it as an autoinflammatory keratinization disease, but reports no new clinical results.

This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.

This review discusses the manifestations of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency across different life stages, but reports no new findings.

In a human genetic study on hidradenitis suppurativa, researchers identified 12 genetic risk loci and found that CXCR4-CD74 signaling may play a key role in hair follicle inflammation, suggesting CXCR4 blockade as a potential therapeutic approach for this condition.

This report discusses the characteristics of circle hairs, a type of body hair growth disorder, and emphasizes the value of trichoscopy for diagnosis.

This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.

This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.

In human hair follicle cultures, this study found that cyclohexyl salicylate, an OR2A4/7 agonist, promoted hair growth by delaying catagen development and expanding epithelial stem cell progeny, suggesting its potential as a non-drug hair loss treatment.

This study found that patients with non-classical 21-hydroxylase deficiency do not appear to be at risk of short adult stature despite increased bone age in childhood.

This article discusses the pathogenesis of hidradenitis suppurativa, highlighting follicular occlusion and inflammation as key factors in disease development, but reports no new clinical results.

This paper reviews hidradenitis suppurativa, comparing its clinical and histopathological characteristics to acne, questioning the proposed link to terminal hair follicles, and reports no new results.