research Zinc‐responsive dermatosis in goats suggestive of hereditary malabsorption: two field cases
Goats may need lifelong zinc supplements due to hereditary zinc absorption issues.
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540-570 / 1000+ resultsresearch Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
Researchers created a mouse model of a type of rickets that does not cause hair loss.
research CLINICAL, HEMATOLOGICAL AND BIOCHEMICAL STUDIES OF SOME MINERALS DEFICIENCY IN BUFFALOES IN BASRAH,IRAQ
Buffaloes in Basrah, Iraq, often lack minerals like zinc and copper, leading to health issues.
research Prevalence of nutritional deficiencies in hair loss among Indian participants: Results of a cross-sectional study
Most Indian people with hair loss in the study lacked nutrients, especially iron.
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research Vogt-Koyanagi-Harada disease occurring during pegylated interferon-α2b and ribavirin combination therapy for chronic hepatitis C
Vogt-Koyanagi-Harada disease can develop during interferon therapy for chronic hepatitis C.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Inborn Errors of Metabolism
Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
research Serum Vitamin D3 Levels and Diffuse HairFall among the Student Population inSouth India: A Case–Control Study
Low Vitamin D3 levels are linked to hair loss in female students in South India.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research Strategy for Generating Blinded Evidence for Single-Arm Trials with External Controls Using Expert Review of Home Video
A new method uses expert reviews of home videos to objectively assess children's developmental milestones in single-arm trials.
research Structure and Expression of a New Complementary DNA Encoding the almost Exclusive 3β-Hydroxysteroid Dehydrogenase/Δ5-Δ4-lsomerase in Human Adrenals and Gonads
Human adrenals and gonads have a unique enzyme for steroid hormone production.
research Disorders linked to insufficient androgen action in male children
Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research ULTRAVIOLET LIGHT-ENHANCED VISUALIZATION OF CUTANEOUS SIGNS OF CAROTENE AND VITAMIN A DIETARY DEFICIENCY
UV light makes skin signs of lack of carotene and vitamin A more visible.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Erythrokeratodermia Variabilis
A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
research Idiopathic hypoparathyroidism with extensive intracranial calcification in children
An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
research Hair shaft disorders in children – An update
Diagnosing and managing children's hair shaft disorders is challenging but essential.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research Functional analysis of vitamin D receptor (VDR) using adenovirus vector
The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Index of Suspicion
A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
research Visual Vignette
A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.