research Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
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600-630 / 1000+ resultsresearch A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Acute liver damage due to Serenoa repens: a case report
Saw Palmetto can cause severe liver damage.
research Reversible Hyperpigmentation: A Diagnostic Dilemma
Vitamin B12 deficiency can cause reversible skin darkening.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research RADIUM POISONING
Radium exposure causes severe health issues, so strict safety measures are essential.
research Mechanisms of Disease: selective inhibition of 11β-hydroxysteroid dehydrogenase type 1 as a novel treatment for the metabolic syndrome
Blocking the enzyme 11β-HSD1 might help treat obesity and metabolic issues.
research Muscle weakness of the lower limbs after epidural anesthesia in a pregnant woman with undiscovered systemic lupus erythematosus
Undiagnosed lupus can cause severe complications after epidural anesthesia, leading to muscle weakness and potentially death.
research Toxic Epidermal Necrolysis
Toxic epidermal necrolysis is a severe skin condition often caused by drugs, with complex treatment and a high risk of death, but survivors usually heal without scars.
research A sharply marginated erythematous dermatitis in a toddler
A toddler with a rash and developmental delays improved after treatment for severe malnutrition caused by a diet lacking in protein.
research Détection précoce de la cardiotoxicité due à la doxorubicine chez le miniporc par imagerie par résonance magnétique
Doxorubicin causes heart damage, so early detection and monitoring are important during chemotherapy.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research Kinase Inhibition with BAY 43–9006 in Renal Cell Carcinoma
BAY 43-9006 helps control kidney cancer growth but doesn't significantly increase overall survival.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
research Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity
Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research G616(P) Cutaneous manifestations of chronic kidney disease in paediatrics in a tertiary children’s hospital in sudan
Skin changes are common in children with chronic kidney disease.
research Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor
Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Serum sickness–like reaction in children: A retrospective review
Children's Serum Sickness-Like Reaction is often linked to antibiotics, especially amoxicillin, and involves symptoms like rash, fever, and joint issues.
research Updated Integrated Safety Analysis of Ritlecitinib up to ~5 Years in Adolescents With Alopecia Areata From the ALLEGRO Clinical Trials
Ritlecitinib is generally safe for adolescents with alopecia areata over 5 years.
research EX VIVO DRUG SENSITIVITY EVALUATION OF A RARE ZMYM2::FGFR1+ LEUKEMIA PATIENT
Pemigatinib may be effective for treating ZMYM2::FGFR1 fusion-positive leukemia.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Effects of Acute UVB on Retinoid Metabolism
UVB exposure increases skin proteins for retinoic acid synthesis and shifts their location, possibly affecting skin repair.
research Biochemical Insights and Clinical Applications of Ischemia-Modified Albumin in Ischemic Conditions
Ischemia-modified albumin can help diagnose ischemic conditions early, but better detection methods are needed.
research A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
research Disruption of tubular Flcn expression as a mouse model for renal tumor induction
Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
research Peritoneal reactions with some of the tubal occlusive agents.
GRF is not safe for tubal occlusion.
research The articulations of Adam's rib with the lower urinary tract
The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.