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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.

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.

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 Diagnosis and Management of Vascular Ehlers-Danlos Syndrome: Experience of the UK National Diagnostic Service, Sheffield

1 citations , March 2023 in “European Journal of Human Genetics”

The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.

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 3 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.

community DUPA, Non Responders and Connective Tissue Disorders

in Research/Science 9 upvotes 9 months ago

A 27-year-old male with diffuse hair loss, including the donor area, did not respond to finasteride, dutasteride, or minoxidil. He suspects his hair loss may be linked to a mild connective tissue disorder, possibly affecting the structural support of hair follicles, rather than being purely hormonal.