research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
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750-780 / 1000+ results research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Cavitating Osmotic Demyelination Syndrome Following Correction of Chronic Hyponatremia in Sheehan’s Syndrome: A Novel Case Report
Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.
research Optimization of photobiomodulation therapy for spinal cord injury: A review
Standardizing light therapy methods could improve spinal cord injury treatment.
research DP10 Scalp disease in dermatomyositis
Scalp disease in dermatomyositis causes significant symptoms and has unique features.
research POST-COVID 19 ENCEPHALITIS IN PATIENT WITH DE NOVO MUTATION IN THE SCN1A GENE, A CASE REPORT
A person with a new mutation in the SCN1A gene developed brain inflammation after COVID-19.
research DIABETE E DOLORE: EFFETTO TERAPEUTICO DEI METABOLITI DEL TESTOSTERONE
Testosterone metabolites may help relieve diabetic nerve pain.
research Phase-specific differential regulation of mechanical allodynia in a murine model of neuropathic pain by progesterone
Progesterone initially worsens but later reduces neuropathic pain in mice, through different mechanisms.
research Macrophages as central mediators of sympathetic neuro-immune interplay in autoimmunity
Restoring nerve-macrophage communication may help treat autoimmune diseases.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Pincer Nails – A Rare Manifestation of Systemic Lupus Erythematosus
Pincer nails are rare in lupus patients and may be managed conservatively.
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 Sesn2/AMPK/mTOR signaling mediates balance between survival and apoptosis in sensory hair cells under stress
Sesn2 protects inner ear hair cells from damage by regulating certain cell survival pathways.
research Thyrotoxic hypokalemic periodic paralysis in a Brazilian male: a case report
Consider THPP in patients with muscle weakness and low potassium, as it is often underdiagnosed.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Is seborrhea a sign of autonomic impairment in Parkinson's disease?
Seborrhea in Parkinson's disease may be linked to hormones, not autonomic impairment.
research Delta Opioid Receptors Presynaptically Regulate Cutaneous Mechanosensory Neuron Input to the Spinal Cord Dorsal Horn
Delta opioid receptors help regulate touch sensation by reducing neurotransmitter release in the spinal cord.
research Lack of Evidence for Sprouting of Aβ Afferents into the Superficial Laminas of the Spinal Cord Dorsal Horn after Nerve Section
Aβ afferents do not sprout into the superficial spinal cord layers after nerve injury.
research Lucio Phenomenon mimicking with Vasculo necrotic Erithema Nodosum Leprosum: A Case Report
A man with severe leprosy developed painless ulcers and numbness, treated successfully with multiple drugs and vitamins.
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 Alopecia areata and myasthenia gravis presenting as paraneoplastic phenomena of breast cancer
Alopecia areata and myasthenia gravis can occur as rare symptoms of breast cancer.
research Author response: The signaling lipid sphingosine 1-phosphate regulates mechanical pain
Sphingosine 1-phosphate and its receptor S1PR3 are key in controlling mechanical pain.
research USO DE ESTIMULAÇÃO CEREBRAL PROFUNDA (DBS) PARA O TRATAMENTO DA DOENÇA DE PARKINSON
Deep Brain Stimulation helps manage Parkinson's symptoms when medication isn't enough.
research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research Limb tourniquet syndrome - A cautionary tale
An elderly man with dementia suffered limb damage from rubber bands around his leg, highlighting the need for careful monitoring to prevent such injuries.
research Topical gabapentin and its relation to cutaneous innervation in symptomatic lymphocytic primary cicatricial alopecia
Using a special skin cream with gabapentin helped reduce symptoms of a certain scalp condition but didn't change nerve fibers or skin chemicals.
research Protein Kinase C Downregulation upon Rapamycin Treatment Attenuates Neuroinflammation and Mitochondrial Disease
Rapamycin treatment helps reduce brain inflammation and symptoms of mitochondrial disease by blocking specific pathways in mice.
research Reviewer #4 (Public Review): Spatiotemporal dynamics of sensory neuron and Merkel-cell remodeling are decoupled during epidermal homeostasis
Sensory neuron remodeling and Merkel-cell changes in the skin happen independently.
research Absence of Heart Failure in Severe Cardiac and Autonomic Amyloidosis: The Essential Role of Sympathetic Activation and Venous Tone in the Development of the Congestive Heart Failure Syndrome
Sympathetic activation and venous tone are crucial for heart failure symptoms.