Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

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 study found that digital droplet PCR (ddPCR) outperformed qPCR in detecting replication competent lentivirus in CAR-T products by offering better sensitivity, specificity, and reproducibility, making it a reliable and rapid method for ensuring patient safety.

This study found that the vitamin D receptor in lampreys, which lack bones and hair, binds 1,25-dihydroxyvitamin D3 and may function to induce enzymes for detoxifying substances.

This study identified molecular differences between dysplastic nevi and common melanocytic nevi, including altered keratinocyte differentiation, increased hair follicle-related molecule expression, and distinct immune microenvironment characteristics in dysplastic nevi.

This study suggests that impaired VDR signaling in mice leads to dysregulated Ddit4 expression, impacting hair cycle progression and wound healing.

This study found that VDR knockout mice exhibited muscle and motor impairments affecting locomotor behavior, while cognitive functions such as exploration, working memory, and anxiety appeared unaffected.

Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.

This case study reported on a 3-year-old child with vitamin D-dependent rickets type II treated in the Gaza Strip, whose condition deteriorated despite vitamin D and calcium treatments, leading to recurrent chest infections, respiratory failure, and eventual death.

This study found that in Vdr-knockout mice, hair follicles fail to complete the catagen stage, leading to persistent epithelial strands and subsequent hair loss.

This study found that dengue virus infection caused inflammation and cell death in human hair-follicle dermal papilla cells, which may contribute to increased hair shedding observed during the epidemic in Taiwan.

In this case study, a neoadjuvant therapy combining gemcitabine and Disitamab Vedotin proved effective and safe for a muscle-invasive bladder cancer patient with severe renal insufficiency, who could not tolerate platinum-based treatments. The study suggests this regimen may be a viable alternative, pending further research.

In this study, liver transaminase levels and various symptoms persisted in some adult dengue patients even two months after diagnosis.

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 study observed a strong negative association between the HLA-DQB1*0201 allele and the alopecia totalis/alopecia universalis phenotype in Caucasian individuals, indicating a potential protective role.

This study found that in participants with notalgia paresthetica, 8 weeks of treatment with difelikefalin significantly improved itch intensity and increased the rate of strict complete response compared to placebo, starting as early as week 3.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

This study suggests that recombinant Lumpy Skin Disease Virus strains pose a severe threat to yaks in the Qinghai-Tibet Plateau, causing high mortality and emphasizing the need for targeted control strategies.

This report documents the first known case of acute inflammatory demyelinating polyneuropathy potentially linked to pegylated interferon-alpha 2a in a woman undergoing treatment for chronic hepatitis C.

This review discusses inherited forms of vitamin D-dependent rickets and explains their genetic and metabolic causes but reports no new clinical findings.

This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.

This narrative review suggests that intermediate filaments like vimentin and keratin play a significant role in various stages of viral infection, presenting potential antiviral intervention targets.

Targeting TCR-Vβ2 in cutaneous T cell lymphoma shows promise for safer, more specific treatment.

In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.

In this clinical trial, patients with lichen planopilaris treated with the oral TYK2 inhibitor deucravacitinib showed significant improvement in PGA, LPPAI, and Skindex-16 scores over 24 weeks, with transcriptomic analyses indicating decreased inflammatory and immune pathway activity post-treatment.

Different skin conditions show distinct types of vessel inflammation, a new quality of life index for vulval disease is reliable, a certain intrauterine system might be linked to chronic vaginal yeast infections, and oral minoxidil reduces hair loss in women.

This study observed that in varicella, the varicella-zoster virus spreads to dermal endothelial cells before reaching keratinocytes, whereas in herpes zoster, it first involves cutaneous nerves and pilosebaceous units.

This article discusses various causes of rickets in children and describes VDDR-2A as a type of refractory rickets often linked to alopecia totalis in infancy, but reports no new clinical findings.

This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.

This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.