research Defects in mitochondrial DNA replication and oxidative damage in muscle of mtDNA mutator mice
Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
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330-360 / 1000+ results research SAT-369 Marine-Lenhart Syndrome: Case Report
Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
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 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 Lichen Planopilaris As Part of Multiple Autoimmune Syndrome: A Case Report of New Association
Lichen planopilaris can occur with multiple autoimmune diseases.
research Madarosis, milphosis, eyelash trichomegaly, and dermatochalasis
The document concludes that changes in eyelashes and eyelid skin can indicate various local and systemic diseases.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Pendekatan Diagnosis Ensefalomielitis Diseminata Akut
ADEM is a sudden brain disorder often following infection or vaccination, diagnosed by ruling out other conditions.
research Síndrome dos cabelos anágenos frouxos associada à distrofia macular: descrição de uma família
Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
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 The medusa head: Dermoscopic diagnosis of woolly hair syndrome
A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
research Differentiating pulmonary lymphangioleiomyomatosis from pulmonary langerhans cell histiocytosis and Birt-Hogg-Dube syndrome
Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
research Histomorphological changes of the skin and hair follicles caused by different diseases in dogs with alopecia
Different diseases cause specific skin and hair follicle changes in dogs with alopecia.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research Trichoblastomas derived from the facial skin with tactile hair in aged house musk shrews (Suncus murinus)
Trichoblastomas in aged house musk shrews show unique features and may involve serum amyloid A in inflammation.
research COINFECTION OF DEMODEX MANGE AND MALASSEZIA FUNGI ON THE SKIN OF CROSSBREED BALINESE DOG
The dog improved significantly after treatment for skin mites and fungi.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Chronic inflammatory demyelinating polyneuropathy associated with alopecia totalis and Sjögren syndrome
Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
research Oligosecretory multiple myeloma: Unusual presentation of a rare clinical disease
A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
research Clinical Presentation and Diagnosis of Multisystemic Eosinophilic Epitheliotropic Disease in a Miniature Donkey: A Case Report
The donkey had a severe disease affecting multiple organs and was euthanized.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Mixed Connective Tissue Disease (MCTD) in a Girl with Lower Extremities Edema: A Brief Report
MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
research Cutaneous manifestations of metabolic diseases: uncommon presentations
Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
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 Simultaneous occurrence of neuromyotonia and morphoea: a cause-effect relationship?
Neuromyotonia and morphoea can occur together in the same body areas.
research Biology, diagnosis and treatment of Malassezia dermatitis in dogs and cats
The conclusion is that certain dog and cat breeds are prone to Malassezia dermatitis, which can be diagnosed with skin tests and treated with antifungal shampoos or medications, and preventing relapses involves managing underlying issues and maintaining good hygiene.
research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.