research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
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research IMPAIRMENT OF AUDITORY FUNCTION IN PERSONS WITH TYPE 2 DIABETES MELLITUS DEPENDING ON THE LEVEL OF PERIPHERAL MYELIN PROTEIN
High PMP 22 levels in type 2 diabetes patients may cause hearing loss.
research In Vivo Confocal Microscopy for Automated Detection of Meibomian Gland Dysfunction: A Study Based on Deep Convolutional Neural Networks
research Ptosis in childhood
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research MIM and Cortactin Antagonism Regulates Ciliogenesis and Hedgehog Signaling
MIM is crucial for hair follicle formation and regeneration by controlling cilia formation and hedgehog signaling through its interaction with Cortactin and Src.
research Poster 251 Postsurgical Paresthesias of the Occipital Region: A Case Report
The man's scalp tightness after hair surgery affects his life and work, and it's unclear if it's due to the surgery or a mental health issue.
research Modern trends in the variability of the mechanisms of formation and principles of diagnosis – Ganser syndrome
Ganser syndrome may result from both organic and psychogenic factors.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
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 Behavioural characterization of Vitamin D receptor knockout mice
Vitamin D receptor knockout mice have significant motor impairments but no cognitive deficits.
research Dermatologic Manifestations of Mitochondrial Dysfunction: A Review of the Literature
Mitochondrial dysfunction is linked to various skin conditions and could be a target for treatments.
research 425 Bio-Psycho-Social Risk Factors for Female Sexual Dysfunction. An Online Survey of Women From the USA
Many different biological, psychological, and social factors can cause sexual dysfunction in American women.
research Mitochondrial dysfunction in diabetic neuropathy may be involved in the development of neuropathic pain via a reduction in neurosteroid synthesis
Mitochondrial problems in diabetic nerve damage might cause pain by lowering the production of certain nerve-related steroids.
research Ocular manifestations of Hutchinson-Gilford-Progeria syndrome: A rare presentation
The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.
research Organic and Psychogenic Causes of Sexual Dysfunction in Young Men
Young men's sexual dysfunction often has physical causes, which can lead to stress and worsen the problem.
research NEUROMA DE NERVO RADIAL APÓS CORREÇÃO CIRÚRGICA DA LESÃO SECUNDÁRIA DE FRATURA DIAFISÁRIA DE ÚMERO
Surgery to fix a broken upper arm bone can sometimes lead to nerve damage.
research Finasteride
Finasteride can cause muscle weakness and eye movement issues, even at low doses.
research Visualizing Integrative Functioning in the Human Brainstem and Spinal Cord With Spinal Functional Magnetic Resonance Imaging
Spinal fMRI can help understand brainstem and spinal cord function, especially in spinal cord injury patients.
research Pramipexole
Pramipexole can cause side effects like dizziness, sleepiness, hallucinations, and low blood pressure, and it's important to educate patients and keep doses low.
research Skin features in myotonic dystrophy type 1: An observational study
People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
research Body Representation in Patients with Severe Spinal Cord Injury: A Pilot Study on the Promising Role of Powered Exoskeleton for Gait Training
Powered exoskeleton training improves body perception and quality of life in spinal cord injury patients.
research Fourth Nerve Palsy After Hair Replacement Surgery and Prolonged Vertical Position in a Patient With Mega-Cisterna-Magna: Report of a Case
A man developed an eye nerve issue after hair surgery due to prolonged upright posture affecting brain fluid balance.
research The Off-Label Use of Selective Serotonin Reuptake Inhibitors for Sexual Behavior Management: Risks and Considerations
SSRIs may help manage sexual behavior in dementia patients, but they can cause long-lasting sexual dysfunction.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Letter: Repair of severed brachial plexus.
The document's conclusion cannot be provided because the document is not accessible or understandable.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Detection of Meibomian Gland Dysfunction by in vivo Confocal Microscopy Based on Deep Convolutional Neural Network
The model can effectively help diagnose meibomian gland dysfunction automatically.
research Hair-tourniquet syndrome ??? multiple toes and bilaterality
Hair-tourniquet syndrome can cause serious toe injuries in infants but can be treated if found early.
research Sindrom Fahr: Kalsifikasi Intraserebral Patologis
Fahr syndrome causes brain calcification and is managed by treating symptoms and underlying issues.