research Cronkhite-Canada Syndrome: A Case Report
Steroids, infection management, and nutritional support can significantly improve symptoms of Cronkhite-Canada Syndrome.
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research Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
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.
research Unusual acute lupus hemophagocytic syndrome – a test of diagnostic criteria: a case report
The 2012 criteria are better for diagnosing atypical lupus cases.
research Association of follicle-stimulating hormone receptor gene ser680 asn (rs6166) polymorphism with polycystic ovarian syndrome
A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
research Neonatal lupus syndrome in a Nigerian child
A Nigerian baby with neonatal lupus got better with treatment by 6 months.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Skin and metabolic syndrome: A review of the possible associations
Certain medications can impact metabolic syndrome, with some improving conditions like high blood sugar and others having no effect.
research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Complementary Therapy with Traditional Chinese Medicine for Polycystic Ovarian Syndrome
Traditional Chinese Medicine and acupuncture may improve Polycystic Ovarian Syndrome symptoms and reduce costs, but more research is needed.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Molecular mechanisms of ectodermal dysplasia syndromes
Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.
research Polycystic Ovary Syndrome in the Context of Pituitary Adenomas: Prevalence, Pathophysiology and Clinical Management
PCOS symptoms can improve with specific treatments for pituitary adenomas.
research Refractory/relapse thrombocytopenia in a patient with Evans' syndrome successfully treated with zanubrutinib
A girl with Evans' syndrome had her low platelet count successfully treated with zanubrutinib.
research High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Assessment of Optimism in Women with Polycystic Ovary Syndrome: A Case Control-Study
Women with PCOS tend to be less optimistic than those without it.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
research A case of familial trichomegaly with synophrys in association with loose anagen syndrome
A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
research A previously undescribed cutaneous paraneoplastic syndrome in a cat with thymoma
Thymoma in cats can cause hair loss without inflammation.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II
Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
research HHV-6A and HHV-6B in Drug-Induced Hypersensitivity Syndrome/Drug Reaction with Eosinophilia and Systemic Symptoms
The document concludes that reactivation of herpesviruses, especially HHV-6, is linked to severe symptoms and complications in drug-induced hypersensitivity syndrome.
research Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome
Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
research Pseudo-Cushing Syndrome
Pseudo-Cushing's symptoms disappear once the underlying issue is resolved.
research Polycystic ovary syndrome and iron overload: biochemical link and underlying mechanisms with potential novel therapeutic avenues
Polycystic ovary syndrome and iron overload share similar symptoms and can be potentially treated with blood removal, diet changes, and probiotics.
research Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion
Minoxidil helps restore thymus size in 22q11.2 deletion syndrome.
research Investigation of the Clinical Efficacy of Quercetin in Feline Atopic Dermatitis Syndrome
Quercetin may help improve skin conditions in cats with Feline Atopic Skin Syndrome.
research Diagnosis and treatment of polycystic ovarian syndrome: an update
PCOS is managed with medication, lifestyle changes, and a healthy diet.
research Iatrogenic cushing’s syndrome post intralesional triamcinolone acetonide in oral submucous fibrosis: 2 case reports
Two patients treated with TAC for mouth fibrosis improved but developed Cushing's Syndrome symptoms.