research Physical inactivity is a disease synonymous for a non-permissive brain disorder
Physical inactivity is a primary cause of many human illnesses.
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research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
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 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 Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.
research Brachioradial pruritus: Treatment with topical capsaicin
Capsaicin cream quickly relieved itching in two patients with brachioradial pruritus.
research TRICHOSTASIS SPINULOSA
Trichostasis spinulosa mainly affects the nose, with many tiny hairs in one follicle, possibly influenced by hormones and sunlight.
research Abstract C4: Sp2: A regulator of stem cell differentiation and tumorigenesis
Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
research P-13 Some biomechanical properties of human hair keratin (HHK) artificial tendon
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
research Quantitative Imaging Biomarkers of PRP-Induced Tendon Remodelling in Chronic Tendinopathy: Review and Single-Centre Experience with Ultrasound Radiomics and MRI T2 Profiling
PRP treatment improves chronic tendinopathy, and imaging biomarkers can track tendon changes.
research Plica neuropathica: novel presentation of a rare disease
A girl with no hair neglect developed plica neuropathica in the hospital, lost all her hair, but it grew back.
research A Case of Satoyoshi Syndrome: A Multisystem Disorder
Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Spiny mice ( Acomys ) have evolved cellular features to support regenerative healing
Spiny mice can regenerate tissues instead of forming scars.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Spangled hair in siblings
Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
research WRIST PAIN IN A GYMNAST WITH PRIMARY AMENORRHEA
The gymnast's wrist pain and delayed menstruation are linked to intense exercise, requiring reduced activity and monitoring.
research Their year at Parkland Memorial Hospital (2005)
Itch is a common symptom in patients with chronic venous insufficiency, often worsening with standing or sitting and occurring mostly in the evening or at night.
research Facial Follicular Spicules: A Rare Cutaneous Presentation of Trichodysplasia Spinulosa
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
research Trichophyia and hypertrichosis: A side effect of foam sclerotherapy
Foam sclerotherapy for varicose veins may cause unexpected hair growth.
research Chronic urticaria versus dermatomyositis in a case of T- cell large granular lymphocytic leukemia
The muscle damage was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
research How I Do It: Second Place Prize Poster Presentation Characterizing Ergonomics and Work-Related Musculoskeletal Disorders in Hair Restoration Surgery
Hair restoration surgery can cause muscle and joint problems due to poor workplace setup.
research Clinical Analysis of Parkinson's Disease with Urinary Bladder Dysfunction:A Report of 64 Cases
Proper treatments based on tests can improve life quality and protect kidneys in Parkinson's patients with bladder issues.
research Haff disease associated with the ingestion of the freshwater fish Mylossoma duriventre (pacu-manteiga)
Eating pacu-manteiga fish can cause Haff disease, leading to severe muscle damage.
research Mechanism research of yak hair stretching slenderization based on the changes of conformation and cell shape
Yak hair stretches mainly due to macromolecules slipping past each other.
research Viral-associated trichodysplasia spinulosa: a case with electron microscopic and molecular detection of the trichodysplasia spinulosa-associated human polyomavirus
A rare skin condition was confirmed to be associated with a specific virus in a young girl.
research Development of a three‐point cantilever bending technique to study the mechanical properties of hair styling ingredients
The technique helps measure how hair styling ingredients affect hair's stiffness and flexibility.