research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
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research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Comparison of clinical characteristics among different time of disease onset in patients with systemic lupus erythematosus patients
Juvenile-onset lupus patients have more severe symptoms and need stronger treatment.
research Clinical presentation and management outcome of childhood-onset systemic lupus erythamatosus in Baghdad.
Most children with childhood-onset lupus in Baghdad responded well to treatment, but some developed chronic kidney disease or died.
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 Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research The transcriptional repressor CDP (Cutl1) is essential for epithelial cell differentiation of the lung and the hair follicle
CDP is crucial for lung and hair follicle cell development.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Klinefelter syndrome and chronic leg ulcers
A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
research SUN-287 A Case of Ectopic Neurohypophysis
The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
research Central Diabetes Insipidus and Hypothalamic Type of Hypopituitarism Associated with Atypical Location of Rathke's Cleft Cyst
A Rathke's cleft cyst caused hormonal imbalances and symptoms in a 68-year-old woman.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
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.
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 Clinical, Microscopic and Ultrastructural Findings in a Case of Short Anagen Syndrome
The study found that Short Anagen Syndrome results in short hair growth not due to hair fragility, and hair may grow longer after puberty.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Canestick Lesion of Vellus Hair in Netherton's Syndrome
Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
research 81 Juvenile RHUPUS syndrome: a case reports
RHUPUS should be considered in children with deforming arthritis.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research NEDD4 and NEDD4L regulate Wnt signalling and intestinal stem cell priming by degrading LGR5 receptor
NEDD4 and NEDD4L help control intestinal stem cells and prevent tumors by breaking down the LGR5 receptor.
research Severe metabolic disorders coexisting with Werner syndrome: a case report
A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research Satoyoshi Syndrome: Difficult to find or treat?
Satoyoshi Syndrome is hard to diagnose and treat due to its rarity and complex symptoms.
research Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism
Borderline newborn screening results should be carefully evaluated to prevent delayed diagnosis of thyroid issues.
research Multimodal therapeutic approach for a severe case of kaposiform lymphangiomatosis from procedural interventions to targeted therapies
Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.