research Diagnosis Of Satoyoshi Syndrome Using A Neuroblastoma Cell (SH-SY5Y) Lysate As Substrate For Western Blot
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
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270-300 / 1000+ results research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Case Report: Extensive digital gangrene as a primary manifestation of late-onset systemic lupus erythematosus
Digital gangrene can be an initial symptom of late-onset systemic lupus erythematosus.
research Fulminant systemic vasculitis in systemic lupus erythematosus. Case report and review of the literature
Early diagnosis and quick treatment are crucial for severe lupus cases.
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Clinical Profile and Outcomes of Patients With Systemic Lupus Erythematosus
Early detection and targeted management are crucial for better outcomes in systemic lupus erythematosus.
research Endemic Canine Leishmaniasis
Canine leishmaniasis is present in Oklahoma, USA.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Clinical expression and morbidity of systemic lupus erythematosus during a post-diagnostic 5-year follow-up: a male:female comparison
Gender affects the symptoms and severity of systemic lupus erythematosus.
research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research An Interesting Case of Hepatic Adrenocortical Carcinoma.
A woman had a rare liver tumor causing male-like physical changes, highlighting the need for thorough checks when such symptoms appear.
research Post-partum pituitary insufficiency and livedo reticularis presenting a diagnostic challenge in a resource limited setting in Tanzania: a case report, clinical discussion and brief review of existing literature
Early diagnosis and hormone therapy can significantly improve outcomes for post-partum pituitary insufficiency in resource-limited settings.
research [Disorder of hair growth in hyperprolactinemia].
High prolactin levels can cause skin and hair symptoms similar to those caused by hormone imbalances.
research A Case Report of Association between Canine Hypothyroidism and Diabetes
Canine hypothyroidism can be linked to diabetes, requiring thorough testing for proper diagnosis.
research Visual Vignette
A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
research Amyloid-Associated Alopecia: A Reappraisal Including Its Pathophysiology
Amyloid deposits linked to a type of protein may cause a unique pattern of hair loss by disrupting hair growth cycles.
research Immune-mediated Coombs negative intravascular haemolysis in systemic lupus erythematosus (SLE)
A woman with lupus had blood cell destruction, treated successfully with medication.
research P448: Identification of a novel RPS6KA3 variant in a female child with features of Coffin-Lowry syndrome: A case study
This case study discusses a 9-year-old female with Coffin-Lowry Syndrome (CLS), a rare X-linked disorder, who presents with obesity, developmental delays, and precocious puberty, a relatively new finding associated with CLS. The patient exhibits typical CLS features and has a novel RPS6KA3 variant. Despite her condition, she is well-managed without medication, and her obesity is being addressed through lifestyle changes. The study highlights the potential association between CLS and precocious puberty, noting that while CLS is typically linked with delayed puberty, this case suggests a possible new dimension to the syndrome. The authors emphasize the need for further investigation to understand the relationship between CLS and precocious puberty better.
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 Delayed treatment leading to multisystem complications in a child with SLE
Early diagnosis and treatment of SLE are crucial to prevent severe complications.
research A 26-year-old man presenting with loss of vision, skin lesions and wasting
The man's symptoms improved significantly after penicillin treatment for syphilis.
research A Case of Interface Perianal Dermatitis in a Dog: Is This an Unusual Manifestation of Lupus Erythematosus?
A dog with unusual skin lesions near its tail was successfully treated for a rare form of lupus.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research (135) Post-Finasteride Syndrome: A Case Presentation and Discussion
research Exotic pediculosis and hair-loss syndrome in deer (Odocoileus hemionus) populations in California
Exotic lice infest 45% of California mule deer, with younger and selenium-deficient deer more vulnerable.
research Referee report. For: Case Report: Extensive digital gangrene as a primary manifestation of late-onset systemic lupus erythematosus [version 2; peer review: 2 approved]
Digital gangrene can be an unusual first sign of late-onset lupus.
research DP15 Syphilis: the chameleon disease. A case series of unexpected mimicry
Syphilis can mimic other diseases, making diagnosis challenging, but proper testing and treatment are effective.
research Corona With Lyme: A Long COVID Case Study
The study concludes that long COVID recovery involves time, various treatments, and a strong patient-provider relationship.
research Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
research Protein-Losing Enteropathy as the First Presentation of Systemic Lupus Erythematosus in a Resource-Limited Setting in Sri Lanka: A Case Report
A woman in Sri Lanka was diagnosed with lupus after presenting with protein loss from the gut and other symptoms.