Results 51 to 60 of about 255,645 (319)
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Demystifying oral epithelial dysplasia: a histological guide [PDF]
Oral epithelial dysplasia is a histologically diagnosed potentially premalignant disorder of the oral mucosa, which carries a risk of malignant transformation to squamous cell carcinoma.
Walsh, H. +4 more
core +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
Indian Journal of Ophthalmology, 2016 Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo),
Dharmil C Doshi +3 more
openaire +3 more sources
Recurrent Bacterial Meningitis Associated with Mondini Dysplasia
, 2012 We reported two cases of recurrent meningitis and both of them had Mondini dysplasia, which provides a link between the brain and inner ear and is associated with cerebrospinal fluid, otorrhea/rhinorrhea, hearing impairment, and recurrent meningitis ...
連天豪;傅俊閔;許權振;劉立;彭信逢;張鑾英 +1 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie +8 more
wiley +1 more source
How Can We Diagnose Pre-malignant Solitary Cecal Ulcer?
Turkish Journal of Colorectal Disease, 2018 A 75-year-old woman presented with a 1-month history of right lower quadrant pain and constipation. Physical examination revealed tenderness to palpation. The patient had no history of inflammatory bowel disease.
Bahar Büşra Özkan +3 more
doaj +1 more source
A Semi-automatic Diagnosis of Hip Dysplasia on X-Ray Films
Frontiers in Molecular Biosciences, 2020 Background: Diagnosis of hip joint plays an important role in early screening of hip diseases such as coxarthritis, heterotopic ossification, osteonecrosis of the femoral head, etc.
Guangyao Yang +6 more
doaj +1 more source
Clinical Case Reports, 2022 Periodontal Ehlers‐Danlos syndrome (pEDS) is a rare disorder caused by heterozygous mutations in complement 1 subunit genes C1R and C1S. To date, 148 cases have been described in the literature.We describe a case of a suspected de novo‐mutation of pEDS ...
Manfred Nilius +5 more
doaj +1 more source
Associations of Sleep and Shift Work With Osteoarthritis Risk
Arthritis Care &Research, EarlyView.Objective Daily rhythms may be critical for maintaining homeostasis of joint tissues. We aimed to investigate the relationships among circadian clock disruption, sleep, and osteoarthritis (OA) risk in humans. Methods In the UK Biobank, a prospective 500,000–person cohort, we evaluated associations among sleep duration, sleeplessness/insomnia, and shift
Elizabeth L. Yanik +5 more
wiley +1 more source