research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
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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 Anti-DFS70 sebagai Penanda Kejadian Autoimun Nonsistemik (Primary Billiar Cholangitis) pada Systemic Lupus Erythematosus
Anti-DFS70 antibodies can help identify nonsystemic autoimmune conditions in SLE patients.
research Mapping Metabolism: Monitoring Lactate Dehydrogenase Activity Directly in Tissue
The document concludes that the technique allows for the detection of LDH activity in various tissues, showing where cells are actively metabolizing glucose.
research Lichen Planus Activity and Damage Index (LiPADI)–Creation of the Questionnaire
LiPADI is a useful tool for monitoring the severity and treatment of lichen planus.
research Bilateral Burning Palmoplantar Lesions
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Clinicopathological study of discoid lupus erythematosus.
Discoid Lupus Erythematosus is more common in women aged 31-40, often worsened by sunlight, and confirmed by specific lab tests.
research Acrodermatitis Dysmetabolica with Concomitant Acquired Acrodermatitis Enteropathica in a Patient with Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Combined therapy with adipose tissue-derived mesenchymal stromal cells and meglumine antimoniate controls lesion development and parasite load in murine cutaneous leishmaniasis caused by Leishmania amazonensis
Using fat-derived stem cells with the drug meglumine antimoniate can help control skin disease and reduce parasites in mice with leishmaniasis.
research ANTI-CD19 MONOCLONAL ANTIBODY FOR SYSTEMIC LUPUS ERYTHEMATOSUS AND NEUROMYELITIS OPTICA SPECTRUM DISORDER
Anti-CD19 therapy may help treat SLE and NMOSD.
research Dermoscopy of discoid lupus erythematosus: Report of two cases
Dermoscopy helped diagnose discoid lupus erythematosus in two patients without needing skin biopsies.
research Is lichen planus a marker for dyslipidemia and metabolic syndrome?
Lichen planus may be associated with a higher risk of metabolic syndrome.
research Lichen Sclerosus of the Labial Mucosa: A Case Report and Literature Review
Recognizing and treating oral lichen sclerosus is important, but treatment guidelines are lacking.
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 Meibomian Gland Dysfunction: Intense Pulsed Light Therapy in Combination with Low-Level Light Therapy as Rescue Treatment
Combined light therapy improves eye health and quality of life for those with meibomian gland dysfunction.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research LIGA R and D and prototyping[Lithography, Electroforming, and Assembly]
research Dermoscopy of Graham–Little–Piccardi–Lassueur Syndrome
Dermoscopy helps diagnose rare GLPLS in males.
research MIXED CONNECTIVE TISSUE DISEASE EVOLVING FROM THE SEQUENTIAL OVERLAP OF SYSTEMIC LUPUS ERYTHEMATOSUS, SJÖGREN’S SYNDROME, RHEUMATOID ARTHRITIS AND DERMATOMYOSITIS: A FOLLOW-UP
Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
research Pulsed dye laser treatment of Jessner lymphocytic infiltration of the skin
Pulsed dye laser treatment was effective for a skin condition resistant to other treatments.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Disease-Modifying Therapy in Multiple Sclerosis: Strategies For Optimizing Management
A comprehensive approach to educating patients and managing side effects is crucial for improving adherence to multiple sclerosis treatments and patient quality of life.
research Graham-Little-Piccardi-Lasseur Syndrome: A Case Report
Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
research A modified laparoscopic sleeve gastrectomy for the treatment of diabetes mellitus type 2 and metabolic syndrome in obesity
Modified laparoscopic sleeve gastrectomy effectively controls diabetes and treats obesity with minimal complications.
research A report on neglected case of systemic lupus erythematosus presenting by Degos’ skin disease and diffuse non-scarring alopecia with dramatic response to treatment
The treatment led to significant hair regrowth in a lupus patient.
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.