research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
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research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research Alopecia areata and myasthenia gravis presenting as paraneoplastic phenomena of breast cancer
Alopecia areata and myasthenia gravis can occur as rare symptoms of breast cancer.
research Cutaneous Neoplasms in Myotonic Dystrophy Type 1
People with myotonic dystrophy type 1 tend to develop basal cell carcinoma at a younger age but not more frequently than others.
research Ion Sequential Therapy Aligned With Pathological Changes Enhances Cardiac Function After Myocardial Infarction
Ion sequential therapy improves heart function after a heart attack.
research Localized syringolymphoid hyperplasia with alopecia and anhidrosis
SLHA can be hard to diagnose and needs teamwork between specialists.
research Atrichia with Papular Lesions: Dermoscopy to the Rescue
Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research 133 A young girl with lupus, recurrent pericardial effusion and cardiac tamponade
Adding colchicine stopped the girl's recurring heart issues caused by lupus.
research C85. Right heart failure due to chronic thromboembolic pulmonary hypertension in systemic lupus erythematosus patient: a case report
SLE can increase the risk of blood clots, leading to heart failure, but treatment can improve heart function.
research Use of intramuscular triamcinolone acetonide in intermediate responders to janus kinase inhibition for alopecia areata: Case report
IMTA can help regrow hair in severe alopecia areata when JAK inhibitors don't work well.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Clinical, histological and immunophenotypic findings in a mare with a mammary lymphoma associated with anaemia and pruritus
A mare had severe symptoms and died from a large lymphoma.
research P23 A case of visceral leishmaniasis presenting as seropositive erosive rheumatoid arthritis in an immunocompromised patient
Visceral leishmaniasis can mimic rheumatoid arthritis symptoms, especially in immunocompromised patients.
research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research Rectangular-patterned occipital alopecia areata: A report of three cases
Sudden, unusual hair loss may indicate serious underlying health issues.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Supplementary file 2_Association between alopecia areata and cardiovascular disease: a systematic review and meta-analysis.docx
Alopecia areata patients, especially with severe forms, have a higher risk of cardiovascular disease.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Systemic Lupus Erythematosus With Acute Inflammatory Demyelinating Polyneuropathy: A Case Report and Review of the Literature
A woman with lupus and severe nerve damage improved with specific treatments.
research Cardiovascular risk factors and co-morbidities in patients with Alopecia Areata: A case-control study
People with Alopecia Areata have a higher risk of heart-related health issues.
research Congenital atrichia associated with situs inversus and mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research Pathogenesis of Cardiovascular Alterations in Dogs Treated with Minoxidil
Using minoxidil on dogs can cause serious cardiovascular damage, including arterial injury and hemorrhagic lesions.
research Metabolism of Minoxidil, a New Hypotensive Agent 11: Biotransformation following Oral Administration to Rats, Dogs, and Monkeys
Minoxidil metabolizes similarly in monkeys and humans, but differently in dogs and rats.