Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.926
Abstract: The seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that lowers seizure threshold and may also enhance epileptogenesis. In this study, three patients diagnosed with SZT2‐related developmental and epileptic encephalopathies (DEEs) were… read more here.
Keywords: novel szt2; epileptic encephalopathies; mutations three; szt2 mutations ... See more keywords
Amyotrophic lateral sclerosis and anesthesia: a case series and review of the literature
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Anesthesia"
DOI: 10.1007/s00540-019-02611-x
Abstract: PurposeAmyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that leads to death due to respiratory failure. This report describes the perioperative characteristics of ALS patients who underwent procedures with anesthesia at our institution.MethodsWe reviewed… read more here.
Keywords: underwent procedures; anesthesia; lateral sclerosis; patients underwent ... See more keywords
Presumed Sertraline-Associated Maculopathy: A Case Series
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DOI: 10.1007/s40123-021-00340-7
Abstract: To report findings of maculopathy after treatment with sertraline in three patients. This case series includes three patients who presented with reduced visual acuity after treatment with sertraline for various psychiatric indications. All patients had… read more here.
Keywords: associated maculopathy; sertraline; case series; three patients ... See more keywords
Relevance of Pulmonary Alveolar Echinococcosis
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DOI: 10.1016/j.arbres.2019.07.014
Abstract: Abstract Background Pulmonary alveolar echinococcosis (PAE) is a chronic disease caused by Echinococcus multilocularis with very low incidence in developed countries. Methods This single-center, retrospective study included 34 patients who were diagnosed with PAE between… read more here.
Keywords: echinococcosis; relevance pulmonary; pulmonary alveolar; three patients ... See more keywords
Parenteral Antiplatelet Agents in Three Patients Receiving VA-ECMO Support to Maintain Drug-Eluting Stent Patency
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Heart and Lung Transplantation"
DOI: 10.1016/j.healun.2021.01.2124
Abstract: Introduction The following cases summarize three patients administered intravenous (IV) antiplatelet therapy during their venoarterial-extracorporeal membrane oxygenation (VA-ECMO) support with successful maintenance of drug-eluting stent (DES) patency. Case Report A 36-year-old male was cannulated for… read more here.
Keywords: patient; antiplatelet; day; cangrelor ... See more keywords
Intestinal tuberculosis: Case series of three patients
Sign Up to like & getrecommendations! Published in 2020 at "Respiratory Medicine Case Reports"
DOI: 10.1016/j.rmcr.2019.100942
Abstract: Background Intestinal tuberculosis (ITB) is a fraction of extrapulmonary TB, and its diagnosis often pose a significant challenge due to nonspecific presentation. Several methods have been utilized to diagnosed ITB, including findings of specific inflammatory… read more here.
Keywords: intestinal tuberculosis; case; itb; year old ... See more keywords
MERTK missense variants in three patients with retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2113541
Abstract: ABSTRACT Background MERTK (MER proto-oncogene, tyrosine kinase) is a transmembrane protein essential in regulating photoreceptor outer segment phagocytosis. Biallelic mutations in MERTK cause retinal degeneration. Here we present the retinal phenotype of three patients with… read more here.
Keywords: mertk; retinitis pigmentosa; three patients; missense variants ... See more keywords
Identification of a novel opioid, N-piperidinyl etonitazene (etonitazepipne), in patients with suspected opioid overdose
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Toxicology"
DOI: 10.1080/15563650.2022.2084406
Abstract: Abstract Background Novel opioids in the illicit drug supply, such as the “nitazene” group of synthetic opioids, present an ongoing public health problem due to high potency and respiratory depressant effects. We describe three patients… read more here.
Keywords: piperidinyl etonitazene; three patients; opioid overdose; suspected opioid ... See more keywords
Progressive-Tension Sutures in Reconstruction of Posterior Trunk Defects in Pediatric Patients: A Prospective Series
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DOI: 10.1097/prs.0000000000009331
Abstract: Summary: Following neurosurgical repair of spinal dysraphism defects, soft-tissue reconstruction is often required to obtain robust coverage of the dura. Layered closure utilizing local muscle and muscle fascia has proven reliable for this purpose, but… read more here.
Keywords: progressive tension; three patients; tension; reconstruction ... See more keywords
A preliminary exome sequence in three patients with tardive dystonia
Sign Up to like & getrecommendations! Published in 2019 at "Psychiatric Genetics"
DOI: 10.1097/ypg.0000000000000248
Abstract: Tardive dystonia is one of the most serious adverse events that can be caused by antipsychotic treatment, but few studies have examined the etiology of tardive dystonia, and no genetic study using a next-generation sequencing… read more here.
Keywords: patients tardive; dystonia; exome sequence; preliminary exome ... See more keywords
Parkinson's disease and parkinsonism: Clinicopathological discrepancies on diagnosis in three patients
Sign Up to like & getrecommendations! Published in 2021 at "Neuropathology"
DOI: 10.1111/neup.12777
Abstract: Parkinson's disease (PD) is one of the most common neurodegenerative disorders. The cardinal neuropathological features of PD include selective and progressive loss of pigmented neurons in the substantia nigra, deficiencies in dopaminergic signaling in the… read more here.
Keywords: disease parkinsonism; parkinsonism; parkinson disease; parkinsonism clinicopathological ... See more keywords