research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
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660-690 / 1000+ results research We-P13:320 The clinical significance of serum 7-ketocholesterol levels in patients with metabolic syndrome or acute myocardial infarction
research Pretibial Pruritic Papular Dermatitis: A Case Report and Emphasis on Effective Treatment with Pentoxifylline
Pentoxifylline effectively improves pretibial pruritic papular dermatitis.
research Alopecia induced by inhalation exposure to phenyl glycidyl ether
High levels of phenyl glycidyl ether vapor caused hair loss in rats.
research Higher levels of hair EtG in patients with decreased kidney function
People with kidney problems have higher hair EtG levels.
research WNT10A , dermatology and dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research 12-O-Tetradecanoylphorbol-13-acetate Induces Apoptosis in Renal Epithelial Cells through a Growth Signal Conflict Which Is Prevented by Activated ras1
Activated ras can protect kidney cells from a certain substance that causes cell death.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research Pyruvate Kinase M2 Promotes Hair Regeneration by Connecting Metabolic and Wnt//β-Catenin Signaling
Pyruvate Kinase M2 helps hair grow by linking energy production and a key hair growth pathway.
research PA30 Evaluation of markers of inflammation and oxidative stress in patients with premature canities
Premature canities is linked to low vitamin D and B12, family history, and higher MHR.
research Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control
Dupilumab effectively controls symptoms in infants with Netherton syndrome.
research Acute severe hypokalemia caused by treatment of tongue squamous cell carcinoma with docetaxel and cisplatin: A case report
Chemotherapy with docetaxel and cisplatin can cause severe low potassium, requiring careful monitoring and treatment.
research Alopecia Areata Universalis After Phenobarbital-Induced Anti-Convulsant Hypersensitivity Syndrome
A 3-year-old boy lost all his hair due to a rare reaction to phenobarbital, but it grew back after steroid treatment.
research 5-Alpha-reductase deficiency in a Saudi "girl"
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl
Precocious puberty can signal familial adenomatous polyposis.
research Kallmann's syndrome: skeletal and psychological aspects of late diagnosis.
Hormonal therapy is essential in late-diagnosed Kallmann's syndrome to prevent bone issues.
research Metabolic profiling by LC-DAD-MS, FTIR, NMR and CE-UV of polyphenols with potential against skin pigmentation disorder
Certain polyphenols may help treat skin pigmentation disorders.
research Novel 5α-Reductase Inhibitors: Synthesis, Structure−Activity Studies, and Pharmacokinetic Profile of Phenoxybenzoylphenyl Acetic Acids
A brominated phenoxy compound effectively inhibits a human enzyme and shows potential for clinical use.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Pustular Eruption in a Patient Treated With Trametinib
Trametinib can cause skin issues, but they can often be managed without stopping the drug.
research P62 Drug induced hypothyroidism in patients receiving treatment for multi-drug resistant tuberculosis
People from iodine-deficient areas are more likely to develop hypothyroidism when treated for multi-drug resistant tuberculosis.
research Biotinidase deficiency: a survey of 10 cases.
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research Curly Hair: A Rare Side Effect of Sodium Valproate in a Child
Sodium valproate can rarely cause curly hair in children.
research THYROID DISORDER AMONG LEAN AND OBESE POLYCYSTIC OVARY SYNDROME PHENOTYPES
Women with PCOS, especially if they are obese, are more likely to have an underactive thyroid than women without PCOS.
research Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders
Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
research 3a-Phenylhexahydropentalene-1,6-dione
A rigid compound with a common structural motif was successfully synthesized.