Results 31 to 40 of about 390,500 (268)
Atypical Presentation of Pseudoxanthoma Elasticum in Two Siblings from North India
Acta Medica, 2020 Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder occurring due to metabolic defect in the liver and manifesting predominantly in the skin, eyes and arteries.
Sunayana Misra, Ravindra Kumar Saran
doaj +1 more source
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2006 ▪ Abstract In recent years, the number of proteins implicated in iron homeostasis has increased dramatically, and genetic causes have apparently been identified for the major disorders associated with tissue iron overload. These dramatic steps forward have transformed the way we look at iron-related disorders, particularly hemochromatosis.
openaire +4 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen +23 more
wiley +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Children with sickle cell disease (SCD) face multiple acute and chronic medical complications that may impact their quality of life as reported by patients themselves. Health‐related social needs (HRSNs), such as food and housing insecurity, are common in people with SCD, but the association between HRSNs and patient‐reported ...
Sarah J. Marks +5 more
wiley +1 more source
Hereditary Eye Diseases in German Shepherd Dog
Folia Veterinaria, 2022 Hereditary eye diseases occur to varying degrees in all dog breeds. Individual purebred breeds have specific predispositions to various eye disorders.
Zubrický P., Trbolová A.
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Cup‐like nuclei are a distinctive morphological feature observed in certain cases of acute lymphoblastic leukemia (ALL). We provide evidence that they characterize DUX4/ERG ALL independently of IKZF1 deletion and reveal marked mitochondrial accumulation in this ALL subset.
Chloé Arfeuille +9 more
wiley +1 more source
Clinical Profile of Pediatric Cataract Patients Attending a Tertiary Care Centre of North Karnataka [PDF]
Al Ameen Journal of Medical Sciences, 2016 Background: Cataract is one of the leading causes of blindness in children. Cataract is responsible for about 10% blindness among children in India. Etiology of cataract is not well defined especially for childhood cataracts and epidemiological data for ...
Vallabha K, Vijayamahantesh M. Bijapur
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Leber’s Hereditary Optic Neuropathy: A Case Misinterpreted As Optic Neuritis
Delhi Journal of Ophthalmology, 2022 A 38 year old male presented with bilateral complete loss of vision over 1 year, left followed by right eye. He was diagnosed to have optic neuritis and was given treatment accordingly, with no improvement in vision.
Dhaivat Shah +3 more
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a rare pediatric CD30‐positive T‐cell lymphoproliferative disorder with an excellent prognosis, but its genomic drivers are poorly defined. We report three children with skin‐limited disease demonstrating striking molecular heterogeneity, including NPM::ALK, NUP214::FRK, and a novel ...
Shoshana Greenberger +7 more
wiley +1 more source
Праці Наукового товариства імені Шевченка. Медичні наукиIntroduction. Birth defects (BDs) are an essential public health issue in children; the identification of probable risk factors should be a priority for the healthcare system.
Oleh Hnateiko +5 more
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