More than just a hole in the heart: a case of Holt-Oram syndrome with severe left ventricular dysfunction
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the American College of Cardiology"
DOI: 10.1016/s0735-1097(18)33040-7
Abstract: Atrial septal defects (ASDs) are commonly encountered and can be associated with extra-cardiac conditions. Holt-Oram, although rare, is such an example. A 35-year-old healthy man was admitted with 1 month of progressive dyspnea, chest tightness… read more here.
Keywords: heart case; hole heart; holt oram; case holt ... See more keywords
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14143
Abstract: Six individuals of consanguineous Bedouin kindred presented at infancy with an autosomal recessive syndrome of severe global developmental delay, positive pyramidal signs, unique dysmorphism, skeletal abnormalities, and severe failure to thrive with normal birth weights.… read more here.
Keywords: intellectual disability; corpus callosum; syndrome severe; thinning corpus ... See more keywords
Reversal of the ‘reversed Robin Hood syndrome’ in severe intracranial stenosis after enhanced external counterpulsation therapy
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Neurology"
DOI: 10.1111/ene.14459
Abstract: A 59-years old Chinese woman presented with recurrent episodes of transient left hemiparesis for 1-month. Each episode lasted 5-10 minutes. She was on regular medications for hypertension and dyslipidemia. Her neurological examination was unremarkable. Magnetic… read more here.
Keywords: hood syndrome; reversed robin; stenosis; syndrome severe ... See more keywords
Takotsubo syndrome with severe bradycardia initiated by seizure: Is the implantation of a permanent pacemaker necessary?
Sign Up to like & getrecommendations! Published in 2018 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-226480
Abstract: Although arrhythmias are frequent in patients with Takotsubo syndrome (TTS), data on sick sinus syndrome remain elusive. Here, we report a case of TTS initiated by a seizure as a physical trigger that led to… read more here.
Keywords: takotsubo syndrome; implantation; initiated seizure; syndrome severe ... See more keywords
ASIA syndrome with severe lupus – A case report
Sign Up to like & getrecommendations! Published in 2022 at "Lupus"
DOI: 10.1177/09612033221124424
Abstract: The autoimmune/inflammatory syndrome induced by adjuvants (ASIA), also known as Shoenfeld’s syndrome, encompasses several autoimmune conditions/phenomena that are triggered following the exposure to materials with an adjuvant activity known to augment an antigen-driven immune response.… read more here.
Keywords: syndrome severe; lupus case; case; asia syndrome ... See more keywords
Stevens-Johnson Syndrome and Severe Anaemia: A Case of Toxicity Induced by Vemurafenib plus Cobimetinib following Pembrolizumab for Metastatic Melanoma
Sign Up to like & getrecommendations! Published in 2022 at "Acta Dermato-Venereologica"
DOI: 10.2340/actadv.v102.1433
Abstract: Abstract is missing (Short communication) read more here.
Keywords: syndrome severe; anaemia case; severe anaemia; johnson syndrome ... See more keywords
Kleefstra Syndrome with Severe Sensory Neural Deafness and De Novo Novel Mutation.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP"
DOI: 10.29271/jcpsp.2022.02.236
Abstract: Kleefstra syndrome is a rare inherited neuro-developmental condition characterised by facial dysmorphism, microcephaly, hypotonia, developmental delay, and intellectual disability. It is a rare syndrome; and less than 100 cases with different genetic mutations are reported… read more here.
Keywords: syndrome; deafness; kleefstra syndrome; mutation ... See more keywords
Report of the Association Between Multisystem Inflammatory Syndrome and Severe Myocarditis
Sign Up to like & getrecommendations! Published in 2023 at "Iranian Journal of Pediatrics"
DOI: 10.5812/ijp-122272
Abstract: Introduction: The people worldwide have been affected by severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) infection since its appearance in December, 2019. Kawasaki disease-like hyperinflammatory shock associated with SARS-CoV-2 infection in previously healthy children has been… read more here.
Keywords: syndrome severe; syndrome; inflammatory syndrome; multisystem inflammatory ... See more keywords