A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome
Endocrinology, Diabetes & Metabolism Case Reports, 2021 The underlying genetic drivers of Kallmann syndrome, a rare genetic disorder characterized by anosmia and hypogonadotropic hypogonadism due to impairment in the development of olfactory axons and in the migration of gonadotropin-releasing hormone (GNRH ...
Tetsuji Wakabayashi +8 more
doaj +1 more source
Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: a case report highlighting the role of multimodal imaging and a brief review of the literature [PDF]
, 2019 Purpose: The purpose of this paper is to present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations.
Abdolrahimzadeh +76 more
core +1 more source
Case Report of a Difficult Airway due to Calcinosis Cutis Universalis: An Anaesthesiologist Perspective [PDF]
Journal of Clinical and Diagnostic ResearchDifficult airway is defined as a situation where a trained anaesthesiologist encounters challenges in either face mask ventilation, tracheal intubation, or both, as stated by the American Society of Anaesthesiologists. A case of a difficult airway due to
Priyadharshini Srinivasan +1 more
doaj +1 more source
Journal of Developmental Biology, 2020 Craniofacial anomalies are among the most common of birth defects. The pathogenesis of craniofacial anomalies frequently involves defects in the migration, proliferation, and fate of neural crest cells destined for the craniofacial skeleton.
Erica M. Siismets, Nan E. Hatch
doaj +1 more source
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. [PDF]
, 2017 Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus).
Hart, James C, Miller, Craig T
core +2 more sources
Waist-to-Hip Ratio is Related to Body Fat Content and Distribution Regardless of the Waist Circumference Measurement Protocol, in Non-Alcoholic Fatty Liver Disease Patients [PDF]
, 2016 Central accumulation and distribution of body fat (BF) is an important cardiometabolic risk factor. Waist-to-hip ratio (WHR), commonly elevated in non-alcoholic fatty liver disease (NAFLD) patients, has been endorsed as a risk related marker of central ...
Cortez-Pinto, Helena +5 more
core +1 more source
An integrated genomic approach for the study of mandibular prognathism in the European seabass (Dicentrarchus labrax) [PDF]
, 2016 Skeletal anomalies in farmed fish are a relevant issue affecting animal welfare and health and causing significant economic losses. Here, a high-density genetic map of European seabass for QTL mapping of jaw deformity was constructed and a genome-wide ...
Babbucci, Massimiliano +7 more
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Brainstem auditory evoked responses in an equine patient population. Part II: foals. [PDF]
, 2014 BackgroundReports of the use of brainstem auditory evoked response (BAER) as a diagnostic modality in foals have been limited.Hypothesis/objectivesTo describe BAER findings and associated causes of hearing loss in foals.AnimalsStudy group 18 foals (15 ...
Aleman, M +3 more
core +1 more source
Organoids in pediatric cancer research
FEBS Letters, EarlyView.Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley +1 more source