research Perspectives of Kennedy's disease
This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.
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research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
research The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
This research observed that the skeletal abnormalities in Noggin null mice varied based on genetic background, and identified haploinsufficiency leading to joint fusions, similar to human conditions associated with NOGGIN deficiency.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Maladaptive Daydreaming in Psoriasis Patients
This study investigated whether individuals with psoriasis have higher MDS-16 scores and potentially more maladaptive daydreaming compared to healthy individuals.
research Therapeutic applications and pharmacoeconomics of microneedle technology
This review discusses the potential of microneedle arrays for drug delivery and in the cosmetic market, but reports no new clinical results; factors for commercial therapeutic use are explored.
research Microneedle Transdermal Drug Delivery Systems for Allergen-Specific Immunotherapy, Skin Disease Treatment, and Vaccine Development
This article discusses the potential of novel microneedle transdermal systems for enhanced drug and vaccine delivery through the skin, but reports no clinical results and emphasizes ongoing trials.
research MSF-VMDNet for multi class segmentation of skin cancer whole slide images using a multi frequency dual encoder network
In this study, the proposed MSF-VMDNet, combining dual encoder networks with a multi-frequency domain mechanism, significantly outperformed existing methods in segmenting skin cancer tissues from histological slide images, achieving high accuracy with an MIoU of 95.37% and a Dice coefficient of 95.11%.
research Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis
This study found that patients with myotonic dystrophy types 1 and 2 often exhibit skin abnormalities, which correlate with genotype severity and serum vitamin D levels, and suggest premature aging.
research INNOVATIVE THERAPIES IN REGENERATIVE MEDICINE AND TRANSPLANTATION
This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
research Detection of Meibomian Gland Dysfunction by in vivo Confocal Microscopy Based on Deep Convolutional Neural Network
This study used in vivo confocal microscopy and a ResNet34 deep learning model to classify meibomian gland images with an AUROC greater than 0.95, indicating its potential for automatic diagnosis and screening of meibomian gland dysfunction.
research Minoxidil Nanosuspension-Loaded Dissolved Microneedles for Hair Regrowth
New microneedle method improves hair regrowth treatment delivery.
research [Determination of zinc, copper, iron and manganese contents in hair for MPA patients and healthy men].
This study found that patients with MPA had significantly lower zinc and manganese levels and higher copper levels in their hair compared to hair-healthy men.
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
This case report highlights a female patient with familial partial lipodystrophy who showed significant improvement in liver stiffness after starting leptin replacement therapy.
research Madarosis from mitochondriopathy
This case report suggests that madarosis, or eyelash loss, may be associated with mitochondriopathy, expanding the known causes of madarosis to include this condition.
research Minoxidil ameliorates myelodysplastic syndrome by targeting Wnt4 while sparing normal hematopoiesis
This study discovered that minoxidil affects hematopoiesis by downregulating wnt4, leading to suppression of hematopoietic stem and progenitor cells and alleviating MDS-like symptoms in zebrafish and mice, with hematologic safety achieved at optimized doses.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
research Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis‐Like Features: A Case Report and Literature Review
This case report describes a 4-month-old child with symptoms suggesting multiple carboxylase deficiency, which responded well to biotin therapy, highlighting the importance of early diagnosis and treatment to prevent serious health issues in infants with similar unexplained metabolic acidosis and symptoms.
research Meibomian gland changes in the rhino (hrrhhrrh) mouse.
In this study, researchers observed that rhino mice exhibit significant ductal hyperkeratinization in the meibomian gland, which may represent the first naturally occurring disorder of this gland in mice.
research IMPAIRMENT OF AUDITORY FUNCTION IN PERSONS WITH TYPE 2 DIABETES MELLITUS DEPENDING ON THE LEVEL OF PERIPHERAL MYELIN PROTEIN
This study observed that patients with type 2 diabetes and sensorineural hearing loss exhibited significantly higher levels of peripheral myelin protein 22, particularly in those with microangiopathies, suggesting demyelinating processes in the auditory system.
research β-Nicotinamide Mononucleotide Promotes Cell Proliferation and Hair Growth by Reducing Oxidative Stress
In this study, NMN was found to reverse hair follicle atrophy, thinning, and sparsity in mice induced by DHT, and significantly decreased DHT-induced inflammation and oxidative stress in cultured human dermal papilla cells, enhancing hair growth-related markers.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
research Transdermal Composite Microneedle Composed of Mesoporous Iron Oxide Nanoraspberry and PVA for Androgenetic Alopecia Treatment
This study reported that a magneto-responsive transdermal microneedle system delivered Minoxidil effectively and significantly increased hair density by 800% in mice with androgenetic alopecia after 10 days.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Macrophages Regulate Schwann Cell Maturation after Nerve Injury
This study found that macrophages play a crucial role in nerve regeneration by regulating Schwann cell dynamics and remyelination, with Gas6 identified as a key factor in this process.
research Secretome of Mesenchymal Stromal Cells as a Possible Innovative Therapeutic Tool in Facial Nerve Injury Treatment
This review discusses the potential of mesenchymal stromal cell secretome therapies for facial nerve palsy, emphasizing their standardization advantages over cell transplantation, but provides no new clinical results.
research A young male with kidney damage from genetic mitochondrial disease: case report and literature review
In this study, a young Chinese male with a specific mitochondrial mutation was reported to have proteinuria and renal dysfunction, with stable kidney function after treatment over 23 months.
research CLINICAL NUTRITION PROGRAM IMPROVES SENSORY LOSS IN A 60 YEAR OLD TRUCK DRIVER WITH ANTI-MAG NEUROPATHY
This study reported that a clinical nutrition program improved sensory loss and maintained symptom improvements in a 60-year-old man with anti-MAG neuropathy over the course of one year.