research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
Search
for
Sort by
Research
690-720 / 1000+ results 
research Oligosecretory multiple myeloma: Unusual presentation of a rare clinical disease
A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
research Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research P063 Tracking down autoantibodies
A man developed autoimmune symptoms after the Pfizer COVID-19 vaccine, highlighting the need for thorough vaccine safety checks.
research Alopécia Androgênica Feminina: Aspectos Hormonais E Tratamentos Integrativos.
Combining conventional and integrative treatments can help reduce hair loss and improve hair growth in women with androgenic alopecia.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Localized syringolymphoid hyperplasia with alopecia and anhidrosis
SLHA can be hard to diagnose and needs teamwork between specialists.
research Linear morphea alopecia: New trichoscopy findings
Trichoscopy can reveal specific hair and scalp changes in linear morphea.
research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research Sickle Cell Disease Complications and BMI Percentiles of Pediatric Patients
Sickle cell disease affects BMI and pain frequency, with HbSS patients having more pain and unhealthy BMI.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Spermidine/spermine-N1-acetyltransferase: a key metabolic regulator
SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Herpes Zoster Precipitating First Attack of Neuromyelitis Optica along with Perinuclear Anti-Neutrophilic Cytoplasmic Antibody Positive Vasculitis
A woman's shingles infection triggered her first episode of a rare neurological disorder and blood vessel inflammation.
research Multiple sclerosis disease-modifying therapies: adverse effect surveillance and management
The document concludes that managing side effects of MS therapies is crucial for treatment success and patient adherence.
research Overexpression of spermidine/spermine N1-acetyltransferase under the control of mouse metallothionein I promoter in transgenic mice: evidence for a striking post-transcriptional regulation of transgene expression by a polyamine analogue
Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
research Trichoblastomas derived from the facial skin with tactile hair in aged house musk shrews (Suncus murinus)
Trichoblastomas in aged house musk shrews show unique features and may involve serum amyloid A in inflammation.
research Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector
MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
research Synaptic‐like vesicles and candidate transduction channels in mechanosensory terminals
SLVs help maintain muscle stretch sensitivity and could aid in treating hypertension and muscle spasticity.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research GENOME REPORT: Chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus)
The improved genome of the African spiny mouse helps study its tissue regeneration.
research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
research The Nuts and Bolts of Low-level Laser (Light) Therapy
Low-level Laser Therapy may help reduce inflammation, pain, and aid healing, but more research is needed to confirm its effectiveness and establish standard treatment guidelines.
research Tactile innervation densities across the whole body
Young adults have about 230,000 tactile nerve fibers, decreasing 5-8% per decade with age.
research Alisertib is active as single agent in recurrent atypical teratoid rhabdoid tumors in 4 children
Alisertib was found to be an effective and tolerable treatment for children with recurrent brain tumors.
research Induced Pluripotent Stem Cells from Human Hair Follicle Mesenchymal Stem Cells
Human hair follicle cells can be turned into stem cells similar to embryonic stem cells.