research #6180 OXALATE NEPHROPATHY SECONDARY TO ENTERIC HYPEROXALURIA: A RARE CAUSE OF END STAGE RENAL FAILURE – A REPORT OF 2 CASES
Enteric hyperoxaluria can cause severe kidney failure after bowel surgery.
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750-780 / 1000+ resultsresearch 576 INTASYL PH-762: Intratumoral immunotherapy targeting PD-1
PH-762 shows promise in treating skin cancer by effectively targeting and silencing PD-1 in tumors with minimal side effects.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Keratosis follicularis spinulosa decalvans in a female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS
Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
research A rare case of Vitamin D dependent rickets type II: a case report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research Analysis of Adverse Drug Reactions in Pediatric Patients with Epilepsy: An Intensive Pharmacovigilance Study
Many pediatric epilepsy patients experience preventable severe adverse drug reactions, especially with certain medications and risk factors.
research Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
PCOS in women from Karnataka is influenced by genetics, family history, and insulin resistance, requiring better diagnosis and treatment.
research Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report
IVIG and dupilumab effectively improved symptoms in a child with Netherton syndrome.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Clouston’s syndrome: a rare case report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research IRON DEFICIENCY: AN UNDER-RECOGNIZED PROBLEM IN KIDNEY TRANSPLANTATION. RISKS OF IRON TREATMENT.
Iron deficiency is common in kidney transplant patients, and while iron treatment helps, it can cause high red blood cell levels.
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 Serum phoenixin-14 and phoenixin-20 concentrations in polycystic ovary syndrome: Associations with anti-Müllerian hormone and diagnostic utility
Phoenixin levels are higher in PCOS patients and may help in diagnosis.
research PA33 When bones speak through nails: insights from a paediatric case series
Nail abnormalities in children can indicate deeper health issues.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
PCOS in Karnataka is influenced by genetics, lifestyle, obesity, and diabetes.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Acquired Progressive Kinking of the Hair: A Narrative Review of the Androgen‐Dependent Phenotype
APKH in young males may signal early hair loss and needs early attention.
research The coenzyme A precursor pantethine enhances antitumor immunity in sarcoma
Pantethine may boost the immune system's ability to fight sarcoma.
research Non-classic congenital adrenal hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research Zinc and Growth with Picky Eating in a Jordan Pediatric Clinic: An Observational Study
Picky eating in children is linked to lower weight, hemoglobin, vitamin D, and zinc levels.
research PAK4 signaling in health and disease: defining the PAK4–CREB axis
PAK4 is crucial in cancer progression, brain development, and could be a therapeutic target, especially through the PAK4-CREB axis.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research CPK1 activates CNGCs through phosphorylation for Ca2+ signaling to promote root hair growth in Arabidopsis
CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.
research Nonclassic Congenital Adrenal Hyperplasia
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
research PLA2R1 Overexpression Causes Podocyte Injury by Inhibiting the Cell Cycle: A Clinical Cross-Sectional Investigation and Cellular Study
PLA2R1 overexpression harms kidney cells by stopping their growth cycle.