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GlossaryHypermobility Spectrum Disorder

group of conditions with overly flexible joints causing pain and instability

Hypermobility Spectrum Disorder (HSD) is a group of conditions characterized by joints that move beyond the normal range of motion, often leading to pain, instability, and an increased risk of injury. It encompasses a range of symptoms from benign joint hypermobility to more severe forms that can affect daily functioning and quality of life. HSD is distinct from other connective tissue disorders like Ehlers-Danlos Syndrome, although they can share similar features.

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Retinal Vasculitis With Libman-Sacks Endocarditis as Presenting Features of a Systemic Lupus Erythematosus With Antiphospholipid Antibody Syndrome Patient

research Retinal Vasculitis With Libman-Sacks Endocarditis as Presenting Features of a Systemic Lupus Erythematosus With Antiphospholipid Antibody Syndrome Patient

April 2024 in “Rheumatology”

A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.

Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

March 2024 in “Frontiers in endocrinology”

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases

research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases

7 citations, May 2019 in “European Journal of Human Genetics”

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

research Bachmann–Bupp Syndrome and Treatment

July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology”

DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.

research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

20 citations, February 2019 in “Genes”

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

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community Blocking DHT helps slow down aging or increases it?

in Research/Science 8 upvotes 2 years ago

Blocking DHT may slow down aging and improve skin, with users reporting positive effects from finasteride. Minoxidil and RU58841 are also mentioned as treatments.