research Defects in mitochondrial DNA replication and oxidative damage in muscle of mtDNA mutator mice
Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
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research The self in the obsessive–compulsive-related disorders: hoarding disorder, body dysmorphic disorder, and trichotillomania
The conclusion is that self-concept, shame, and emotion regulation are key factors in hoarding disorder, body dysmorphic disorder, and trichotillomania, and should be targeted in treatment and research.
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 #3 (Public Review): Spatiotemporal dynamics of sensory neuron and Merkel-cell remodeling are decoupled during epidermal homeostasis
Sensory neuron changes and Merkel-cell changes in the skin happen independently during normal skin maintenance.
research Persistent Sexual Dysfunction with Finasteride 1 mg Taken for Hair Loss
Finasteride for hair loss increases risk of long-lasting sexual dysfunction.
research Trichotillomania as a Manifestation of Dementia
Trichotillomania in dementia may be better treated with dopamine blockers like quetiapine than with SSRIs.
research Trichotillomania Across Circuits: Neurobiology, Sensory Processing, and Genetic Insights
Trichotillomania treatment is improving with new therapies, but challenges like stigma and lack of training remain.
research The Functional Diversity of Mammalian Touch Receptors
Mammalian touch receptors have evolved to detect different features, enhancing our ability to perform various tasks and interact socially.
research 43367 Infantile Pacinian Neurofibroma: A Rare Neurogenic Tumor
A rare benign scalp tumor in an infant requires surgical removal.
research The emerging role of cellular senescence in amyotrophic lateral sclerosis
Cellular senescence may play a role in ALS, and anti-senescence therapies could be a promising treatment.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
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 Concentrations of magnesium, calcium, iron, selenium, zinc and copper in the hair of autistic children
Autistic children have lower iron and higher selenium in their hair.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
research Congenital ptosis repair with a frontalis silicon sling: comparison between Fox's single pentagon technique and a modified Crawford double triangle technique
The modified Crawford technique resulted in less lagophthalmos and better cosmetic outcomes for patients with lateral droop.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Mesenchymal stem cell-derived exosomes ameliorate gentamicin-induced vestibular hair cell injury by regulating the SNARE pathway and enhancing autophagy
Stem cell-derived exosomes can help repair ear damage and improve balance and hearing.
research 1368 Does mitochondrial dysfunction drive immune privilege collapse in lichen planopilaris pathogenesis?
Mitochondrial dysfunction may contribute to chronic inflammation and immune system issues in Lichen planopilaris.
research Inborn Errors of Metabolism
Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
research Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Alopecia areata. How not to miss S atoyoshi syndrome?
Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
research Enduring sexual dysfunction after treatment with antidepressants, 5α-reductase inhibitors and isotretinoin: 300 cases
Antidepressants, 5α-reductase inhibitors, and isotretinoin can cause long-lasting sexual dysfunction.
research Short- and mid-term outcomes of multisystem inflammatory syndrome in children: a longitudinal prospective single-center cohort study
Most children with MIS-C showed significant improvement by 6 months.
research Near-total penile amputation secondary to hair Torniquet syndrome – Case of a staged repair with a satisfactory outcome
Timely surgery successfully repaired a boy's penis after a hair caused severe damage.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research Overactivated sonic hedgehog signaling aggravates intrauterine adhesion via inhibiting autophagy in endometrial stromal cells
Overactive sonic hedgehog signaling worsens uterine scarring by reducing cell recycling.