Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.

This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.

This report describes a case of adrenomyeloneuropathy where neurogenic bladder dysfunction developed, attributed to demyelinating lesions in the patient's peripheral nerves, spinal cord, and cerebral white matter.

In this study, the researchers reported that NMMHC IIA dissociates from PAR1 and activates the CREB3/ARF4 pathway, worsening thrombin-induced blood-brain barrier damage, suggesting it as a potential therapeutic target for blood-brain barrier-related diseases.

In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.

This case report highlights how a thorough history and examination led to the diagnosis of hereditary hemochromatosis in a patient initially suspected to have diverticulosis, improving symptoms with phlebotomy treatment.

This review discusses drug-induced hypersensitivity syndrome and drug reaction with eosinophilia and systemic symptoms, highlighting clinical features, potential viral reactivations, and treatment, but reports no new clinical findings.

In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.

In this study, the authors concluded that the VCD-induced follicular depletion rat model can effectively simulate the perimenopause transition, with hormonal changes distinguishing early/mid-transition from late transition to estropause.

Self-induced vomiting in anorexia can lead to rare gout complications.

This article describes the skin changes seen in acute and chronic graft-vs-host reactions after bone marrow transplantation, highlighting the potential for early recognition due to the visibility of these changes, but reports no new clinical results.

This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.

This study found that VDAC2 promotes apoptosis in secondary hair follicle stem cells of Albas cashmere goats by activating the P53 signaling pathway, with knockdown of VDAC2 reducing apoptosis and a P53 inhibitor partially rescuing VDAC2-induced apoptosis.

In this study, vitiligo and alopecia areata were more common among patients with chronic graft-vs-host disease than previously reported, linked to higher NIH skin scores and greater immunosuppressive treatment.

This article reviews challenges and errors in performing Mohs surgery, emphasizing vigilance in maintaining its procedural integrity for successful treatment outcomes, and reports no new clinical findings.

This report discusses a case of reticular erythematous mucinosis syndrome, highlighting minimal mucin deposition and significant lymphocytic infiltration around the hair follicle, contributing to the ongoing debate about its nature as a mucinosis.

This review summarizes the characteristics of the peri-malignant melanoma stroma, indicating its potential role in early dermal metastatic migration and increased metastasis risk.

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

This case report highlights the challenge of distinguishing between neuropsychiatric lupus and rituximab-associated progressive multifocal leukoencephalopathy in systemic lupus erythematosus patients, emphasizing the importance of early recognition and careful management.

This study presents two cases correlating the clinical appearance of adult-onset foveomacular vitelliform dystrophy with optical coherence tomography findings, describing the location of the yellow vitelliform material.

Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.

This paper reports two cases of telogen effluvium in children following HPV vaccination, resolving spontaneously but associated with social and emotional distress.

This case report describes a 26-year-old woman with an uncommon presentation of varicella zoster virus interstitial keratitis misdiagnosed as corneal intraepithelial neoplasia; the correct identification using diagnostic tools such as AS-OCT prevented unnecessary surgical interventions and allowed for effective antiviral treatment.

This study developed a dissolvable microneedle system delivering specific molecules to remodel lymphatic networks and normalize metabolic processes, which accelerated hair growth and activated hair follicle stem cells in a mouse model of androgenetic alopecia.

This abstract consists of a glossary of medical terms related to blood and other conditions, without reporting any new research findings.

This case report details a 77-year-old man initially suspected of having multiple myeloma but ultimately diagnosed with Waldenstrom’s Macroglobulinaemia, highlighting the importance of accurate differential diagnosis for conditions like epistaxis and high serum IgM.

This review covers various aspects of malignant melanoma, including its epidemiology, risk factors, and treatment, but it reports no new clinical results.

This abstract is a navigation and policy notice for a website and does not contain any research findings.