research The effect of dietary modulation of sulfur amino acids on cystathionine β synthase–deficient mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
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research Biotinidase deficiency characterized by skin and hair findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
research Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases
Newborn screening for biotinidase deficiency is effective in preventing severe complications.
research Vitamin B 12 Deficiency: A Rare Cause of Excessive Daytime Sleepiness
Vitamin B12 deficiency can rarely cause excessive daytime sleepiness.
research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research Exploring the efficacy of testosterone undecanoate in male children with 5α‐reductase deficiency
Testosterone undecanoate safely and effectively increased penis size in male children with 5-alpha-reductase deficiency.
research SPRY1 Deficiency in Keratinocytes Induces Follicular Melanocyte Stem Cell Migration to the Epidermis through p53/Stem Cell Factor/C-KIT Signaling
SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
research Daily subcutaneous testosterone for management of testosterone deficiency
Daily subcutaneous testosterone effectively restores testosterone levels in men.
research [Exogenous zinc deficiency syndrome].
Oral zinc supplements quickly resolved skin issues from zinc deficiency.
research Iron Deficiency in Immune-Mediated Inflammatory Skin Diseases: A Missing Link Between Systemic Inflammation, Immunometabolism, and Disease Burden
Iron deficiency worsens inflammatory skin diseases by disrupting iron balance and increasing inflammation.
research 785 Single-cell transcriptomic profile of EGFR-deficient epidermal compartments during folliculitis
EGFR deficiency causes significant changes in skin cells and hair follicles.
research Zfp462 deficiency causes anxiety‐like behaviors with excessive self‐grooming in mice
Zfp462 deficiency in mice causes anxiety-like behaviors and excessive self-grooming.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research ACOD1 deficiency promotes DDX1 methylation–mediated mitochondrial dysfunction and dermal papilla cell senescence in androgenetic alopecia
ACOD1 deficiency worsens hair loss by causing cell aging and mitochondrial problems, but 4-OI may help.
research Fgf21 Deficiency Delays Hair Follicle Cycling and Modulates miRNA–Target Gene Interactions in Mice
Lack of Fgf21 slows hair growth by affecting gene interactions.
research Dual deficiency of melatonin and dihydrotestosterone promotes stromal cell damage and mediates prostatitis via the cGAS-STING pathway in sleep-deprived mice
Lack of sleep in mice leads to prostatitis by reducing certain hormones and activating an inflammatory pathway, which can be temporarily fixed with normal sleep.
research Biotinidase Enzyme Deficiency ( Case Report )
A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
research Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty
Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.
research Alopecia areata patients show deficiency of FOXP3+CD39+ T regulatory cells and clonotypic restriction of Treg TCRβ-chain, which highlights the immunopathological aspect of the disease
Patients with Alopecia areata have fewer specific immune cells that normally regulate the immune system, which may contribute to the condition.
research Vitamin C Deficiency-Induced Pulmonary Arterial Hypertension
Vitamin C supplementation can resolve pulmonary arterial hypertension caused by vitamin C deficiency.
research Update on the therapeutic role of metformin in the management of polycystic ovary syndrome: Effects on pathophysiologic process and fertility outcomes
Metformin helps manage PCOS by improving fertility and is safe for pregnancy, especially when combined with certain treatments.
research Wound Healing Impairment in Type 2 Diabetes Model of Leptin-Deficient Mice—A Mechanistic Systematic Review
Leptin-deficient mice, used as a model for Type 2 Diabetes, have delayed wound healing due to impaired contraction and other dysfunctional cellular responses.
research Roux-en-Y gastric bypass in the treatment of non-classic congenital adrenal hyperplasia due to 11-hydroxylase deficiency
Gastric bypass surgery improved a woman's hormonal disorder without the need for medication.
research GYNECOMASTIA AFTER FINASTERIDE THERAPY
Finasteride may cause breast enlargement, low testosterone a risk factor.
research The Role of Vitamin D3 Deficiency and Colonization of the Oral Mucosa by Candida Yeast-like Fungi in the Pathomechanism of Psoriasis
Vitamin D3 deficiency can worsen psoriasis by promoting Candida overgrowth.
research Oral zinc sulphate in treatment of patients with thallium poisoning: A clinical therapeutic trial
Oral zinc sulphate is an effective and safe treatment for thallium poisoning, especially for skin and hair symptoms.
research The effectiveness of biotin in therapy alopecia of various origins, pathologies of the skin and nails
Biotin effectively treats hair loss, skin, and nail issues without overdose risk.
research Plain Language Summaries
Eczema patients have a lower skin lipid to protein ratio, older and longer-staying hospital patients are more likely to get pressure ulcers, hair loss in AGA is linked to muscle degeneration, vitamin D deficiency is common in alopecia areata and linked to its severity, standard liver tests don't effectively detect fibrosis in psoriasis patients on methotrexate, and bullous pemphigoid patients have a higher death risk but combination therapy may reduce it.
research Oral zinc sulphate in treatment of patients with thallium poisoning: A clinical therapeutic trial
Oral zinc sulphate is an effective and safe treatment for thallium poisoning.
research Interleukin-10-deficient Mice Are Less Susceptible to the Induction of Alopecia Areata
IL-10 may worsen alopecia areata instead of helping it.