2 citations
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” This correspondence reports the case of a young woman with severe lipid storage myopathy due to a rare mutation, who showed significant temporary improvement with plasmapheresis and immunoglobulin treatment before stabilizing with riboflavin and coenzyme Q10 supplementation, challenging the initial assumption of an immune-mediated condition.
2 citations
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January 2017 in “International Journal of Trichology” This case report describes the trichoscopic and histological features observed in a 7-year-old boy with morphea en coup de sabre and details the positive response to systemic immunosuppressive therapy.
13 citations
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March 2013 in “The Laryngoscope” This study concluded that intradermal botulinum toxin type A injections are the preferred treatment for Frey's syndrome, with significant improvements in functional quality of life reported by patients.
This case report illustrates that prompt diagnosis and management of myositis, a rare manifestation of Systemic Lupus Erythematosus, can lead to favorable patient outcomes, as demonstrated by symptom resolution and normal electromyocardiography findings.
1 citations
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.
This case report highlights the diagnosis of Parry Romberg syndrome in a 52-year-old man within a primary care setting, emphasizing the importance of awareness and team discussion among family physicians for rare conditions.
32 citations
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January 2014 in “Cells tissues organs” This study reports that hair follicle stem cells, termed HAP stem cells, can differentiate into neuronal and glial cells, enhancing nerve repair and locomotor recovery after injury.
October 2023 in “BMJ Case Reports” This case report describes a man diagnosed with Hoffman syndrome, characterized by muscle hypertrophy and weakness due to severe hypothyroidism, who had an excellent response to thyroid hormone replacement.
5 citations
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April 2020 in “Journal of Mind and Medical Sciences” This review discusses underactive bladder, highlighting its poorly understood nature, diagnostic challenges, and limited treatment effectiveness, and reports no new clinical results.
August 2021 in “The Journal of Physiology” This study found that GABA can depolarize murine sensory nerve axons via GABAA receptor activation, with the ß3 subunit being crucial to excitability, and that NKCC1 plays a vital role in mediating this effect.
1 citations
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January 2013 in “PubMed” In this study, treating hair with thioglycolic acid was found to alter disulfide bond patterns in keratin-associated proteins, shifting them from an ellipsoidal to a near-spherical shape.
September 2025 in “Dicle Medical Journal / Dicle Tip Dergisi” In this retrospective study, researchers found that fungal infections, xerosis, eczematous dermatitis, and seborrheic dermatitis were the most common dermatological findings among patients with Parkinson's disease, Multiple Sclerosis, and Amyotrophic Lateral Sclerosis, with significant intergroup differences observed.
September 2025 in “Cell Reports” This study found that a single instance of acute skin stretching can enhance immune surveillance and improve vaccine delivery by increasing skin permeability and promoting immune cell recruitment without causing tissue damage.
June 2025 in “Frontiers in Immunology” This study reported that anti-Ku-positive patients exhibited heterogeneous muscular features, primarily characterized by necrotizing fibers and vacuolar changes, and suggested that autophagy could be a significant mechanism involved in the pathogenesis.
January 2021 in “American journal of dermatological research and reviews” This study concluded that myositis in the reported case was caused by T-cell large granular lymphocytic leukemia, not dermatomyositis.
2 citations
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September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study investigated various animal tissues from adult mice and embryonic chicks, finding that tissue stiffness follows a sub-linear power law relationship with Collagen-I levels, consistent with cellularized collagen gels but not acellular ones.
3 citations
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December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that platelet-rich plasma may improve pain and function in patients with partial-thickness rotator cuff tears and tendinopathy short-term, but the long-term benefits are unclear.
2 citations
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April 2013 in “PubMed” This review discusses non-motor symptoms in autoimmune myasthenia gravis and associated thymomas, highlighting abnormal T-cell clones as a contributing factor, but reports no new clinical results.
3 citations
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July 2022 in “Brain and Behavior” This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.
6 citations
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April 2021 in “NAR Genomics and Bioinformatics” This study found extensive co-evolution of polyglutamine repeat lengths in neural protein clusters, highlighting their potential role in neurocognitive variation and neuropsychiatric disease development.
2 citations
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January 2025 in “Journal of Experimental Orthopaedics” Platelet-rich plasma does not improve recovery after Achilles tendon surgery.
19 citations
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February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
April 2009 in “The FASEB Journal” This study demonstrated that a keratin gel promotes nerve regeneration across critical defects in rabbit models, showing improved nerve conduction and muscle action potential compared to control treatments.
16 citations
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December 2012 in “The Clinical Journal of Pain” This study found that trichodynia is associated with both peripheral and central sensitization, potentially linked to hair cycle abnormalities and chronic pain through proinflammatory agents.
124 citations
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February 2018 in “Nature Reviews Genetics” This review covers recent findings on stem cell plasticity under normal and cancerous conditions but presents no new experimental results, highlighting implications for regenerative medicine and cancer treatments.
54 citations
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November 1986 in “Journal of the American Academy of Dermatology” This case report identifies a potential new syndrome characterized by trichoepitheliomas and alopecia, which may be associated with myasthenia gravis.
August 2019 in “Reactions Weekly” Daclizumab may cause psoriasis-like skin problems in multiple sclerosis patients.
August 2022 in “Brain and Development” In this case report, a nine-year-old girl with both chronic inflammatory demyelinating polyneuropathy and alopecia universalis showed improvement in muscle weakness and hair loss after treatment with intravenous immunoglobulin and corticosteroids.
This study examined the use of keratin gel as a filler in nerve guides for peripheral nerve regeneration in a rat sciatic nerve injury model.
January 2025 in “Dusunen Adam The Journal of Psychiatry and Neurological Sciences”