research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
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research Quality of Life in Patients with Diffuse Lichen Planopilaris: A Cross-Sectional Study of 87 Moroccan Cases
Diffuse lichen planopilaris greatly reduces quality of life.
research [A systemic lupus erythematosus patient with multiple aseptic bone necroses, thrombosis of superior mesenteric artery and anti-phospholipid antibody].
Anti-phospholipid antibodies in SLE can cause thrombosis and bone necrosis.
research A case of dyschromatosis universalis
Patients with SLE experienced non-scarring hair loss with fewer hair follicles, and DIF did not help identify lupus.
research Do you know this syndrome? * Você conhece esta síndrome? *
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
research Comprehensive Case Analysis: Diagnosing and Managing Myositis in Newly Diagnosed Systemic Lupus Erythematosus Patients in Indonesia
Early diagnosis and treatment of myositis in SLE patients lead to better outcomes.
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 Fatal autoimmunity results from the conditional deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
research Hypopigmented thin scalp hairs association with iron deficiency: report of 2 cases.
research Endocrine and metabolic comorbidities in juvenile-onset systemic lupus erythematosus
JSLE patients often have more hormone and metabolism issues, so regular check-ups and preventing obesity can help.
research Eyelash Trichomegaly: A Rare Presenting Feature of Systemic Lupus Erythematosus.
A girl with lupus had unusually long and thick eyelashes, a rare symptom of her condition.
research An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
research Soft-tissue calcification in systemic lupus erythematosus
Soft-tissue calcification is rare in systemic lupus erythematosus.
research Investigation of parental socioeconomic status as a determinant of dietary habits and disease severity of sickle cell disease children
Parental socioeconomic status doesn't improve dietary habits or reduce disease severity in children with sickle cell disease.
research Clinicopathologic Case 2: Multiple Intraoral White Lesions in a 55-year-old Female
The patient was diagnosed with oral lichen sclerosus and needs long-term monitoring.
research A Rare Case of Biotinidase Deficiancy
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research Graham Little-Lassueur Syndrome with Hypertrophic Lichen Planus in a Patient with Chronic Hepatitis C
A woman with chronic hepatitis C had a rare skin condition linked to her illness.
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Skin signs of nutritional disorders.
Malnutrition causes skin changes due to nutrient deficiencies.
research [Exogenous zinc deficiency syndrome].
Oral zinc supplements quickly resolved skin issues from zinc deficiency.
research 707 Chromatin remodeler Lymphoid-specific helicase (Lsh) is a critical determinant controlling postnatal epidermal growth, differentiation and response to injury
Lymphoid-specific helicase (Lsh) is crucial for skin growth, change, and healing after injury.
research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research An Atypical Initial Manifestation of Systemic Lupus Erythematosus: Lupus Enteritis Accompanied by Intestinal Pseudo-Obstruction and Bilateral Hydronephroureter
A woman with lupus had rare severe symptoms but improved with treatment.
research THE EFFECT OF ZINC AND COPPER DEFICIENCY ON HEMATOLOGICAL PARAMETERS, OXIDATIVE STRESS AND ANTIOXIDANTS LEVELS IN THE SHEEP.
Zinc and copper deficiency harms sheep health and normal body functions.
research THE RELATIONSHIPS BETWEEN RUMINAL JUICE, URINE, SERUM AND FECAL ZINC IN EXPERIMENTALLY ZINC DEFICIENT OSSIMI LAMBS
Zinc levels in body fluids can help diagnose zinc deficiency in lambs, with fecal zinc as an early indicator.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research Keratosis pilaris with adjacent haemosiderin deposition: a clue to scurvy
A man's skin condition and poor diet led to a scurvy diagnosis.
research Acquired Zinc Deficiency
Long-term parenteral nutrition without zinc can cause severe zinc deficiency.