research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
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research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
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 Author Response: Touch receptor end-organ innervation and function require sensory neuron expression of the transcription factor Meis2
The transcription factor Meis2 is essential for touch sensation and proper nerve development in touch receptors.
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 Contribution of lipid Peroxidation to Social Behaviors in individuals with autism spectrum disorders
Lipid peroxidation may worsen social behavior issues in autism.
research Female sexual dysfunction
Many women experience sexual dysfunction, but few seek help, and better treatment and medical training are needed.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Tactile sensitivity in the rat: a correlation between receptor structure and function
Rats have different touch receptors in their paws that help with movement and handling objects.
research Non-motor Comorbidity of Myasthenia Gravis: Myasthenia Gravis as a Systemic Immunological Disorder Involving Non-motor Systems
Myasthenia gravis can affect both motor and non-motor systems due to immune system issues.
research Mitochondrial dysfunction in an animal model of diabetic neuropathy is associated with a reduction of neurosteroid synthesis.
Diabetic neuropathy in mice is linked to poor mitochondria function and lower brain hormone production.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
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 Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research LOSING SIGHT OF THE DIAGNOSIS: A CASE REPORT OF NEUROMYELITIS OPTICA SPECTRUM DISEASE AND SYSTEMIC LUPUS ERYTHEMATOSUS-NEUROAUTOIMMUNITY IN FOCUS, CORRELATION OR COINCIDENCE?
Correct diagnosis is crucial for treating overlapping conditions like NMOSD and SLE effectively.
research [Striatal involvement on MRI in adrenomyeloneuropathy].
MRI can show unusual brain changes in adrenomyeloneuropathy.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research Parry-Romberg Syndrome: A Rare Case with Diagnostic Challenges and Orthodontic Implications
Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
research Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research CLINICAL NUTRITION PROGRAM IMPROVES SENSORY LOSS IN A 60 YEAR OLD TRUCK DRIVER WITH ANTI-MAG NEUROPATHY
A clinical nutrition program improved sensory and motor function in a 60-year-old with anti-MAG neuropathy.
research Abnormal neuronal differentiation and mitochondrial dysfunction in hair follicle-derived induced pluripotent stem cells of schizophrenia patients
Schizophrenia patients' stem cells show abnormal neuron development and mitochondrial issues.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Sensations Evoked by Microstimulation of Single Mechanoreceptive Afferents Innervating the Human Face and Mouth
Microstimulation of certain facial and mouth nerves can evoke specific sensations, while deeper nerves may require multiple stimulations to affect perception.