Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report

2018 ◽  
Vol 40 (7) ◽  
pp. 576-581 ◽  
Author(s):  
Takuya Hayashida ◽  
Yoshiaki Saito ◽  
Atsushi Ishii ◽  
Shinichi Hirose ◽  
Rika Hiraiwa ◽  
...  
Keyword(s):  
Case Report ◽  
Atp1a3 Gene

scholarly journals Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1→qter in prenatal diagnosis: a case report

2014 ◽  
Vol 7 (1) ◽  
Author(s):  
Vincenzo Altieri ◽  
Oronzo Capozzi ◽  
Maria Cristina Marzano ◽  
Oriana Catapano ◽  
Immacolata Di Biase ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Molecular Characterization ◽  
Marker Chromosome

scholarly journals Lemierre’s syndrome associated with hypervirulent Klebsiella pneumoniae: A case report and genomic characterization of the isolate

IDCases ◽  
2021 ◽  
pp. e01173
Author(s):  
Seung Eun Lee ◽  
Ammara Mushtaq ◽  
Melissa Gitman ◽  
Alberto Paniz-Mondolfi ◽  
Marilyn Chung ◽  
...  
Keyword(s):  
Case Report ◽  
Klebsiella Pneumoniae ◽  
Lemierre’S Syndrome ◽  
Genomic Characterization ◽  
Lemierre's Syndrome

scholarly journals Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report

Open Medicine ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. 1123-1127
Author(s):  
Shuang Chen ◽  
Yang Yu ◽  
Han Zhang ◽  
Leilei Li ◽  
Yuting Jiang ◽  
...  
Keyword(s):  
Case Report ◽  
Microarray Analysis ◽  
Prenatal Testing ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosome 5 ◽  
Left Lateral Ventricle ◽  
Pulsed Doppler Ultrasound

AbstractChromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can be detected before birth to avoid unnecessary abortions or birth defects. Although some microdeletions or microduplications of chromosome 5 have been reported, numerous microduplications remain undescribed. We describe herein a case of a 30-year-old woman carrying a fetus with a chromosome 5q21.1–q21.3 microduplication. Because noninvasive prenatal testing indicated a fetal chromosome 5 abnormality, the patient underwent amniocentesis at 22 weeks 4 days of gestation. Karyotyping and chromosomal microarray analysis were performed on amniotic fluid cells. Fetal behavioral and structural abnormalities were assessed by color and pulsed Doppler ultrasound. Clinical characteristics of the newborn were assessed during the follow-up. The left lateral ventricle appeared widened on ultrasound, but the infant appeared normal at birth. The 5q21.1–q21.3 microduplication in the fetus was inherited from his mother. There are seven genes in this duplication region, but their main functions are unclear. According to this case report, microduplication in this region could represent a benign mutation. Clinicians should pay attention to the breakpoints and the genes involved when counseling patients with microdeletions and microduplications.

Escherichia coli causing meningitis in an adult: A case report and experimental characterization of its virulence

2019 ◽  
Vol 37 (6) ◽  
pp. 418-419 ◽  
Author(s):  
Rafael Ayerbe Algaba ◽  
Rocio Álvarez-Marín ◽  
Julia Praena ◽  
Younes Smani
Keyword(s):  
Escherichia Coli ◽  
Case Report ◽  
Experimental Characterization

Solitary Fibrous Tumor of the Larynx: A Case Report and Review of the Literature

2006 ◽  
Vol 130 (2) ◽  
pp. 213-216 ◽  
Author(s):  
Jorge E. Dotto ◽  
William Ahrens ◽  
David J. Lesnik ◽  
Diane Kowalski ◽  
Clarence Sasaki ◽  
...  
Keyword(s):  
Case Report ◽  
Solitary Fibrous Tumor ◽  
Review Of The Literature ◽  
Solitary Fibrous Tumors ◽  
Subsequent Investigation ◽  
Mesenchymal Neoplasms ◽  
Fibrous Tumor

Abstract Solitary fibrous tumors are relatively rare mesenchymal neoplasms that were originally described as pleural- or peritoneal-based lesions. Although they were considered a form of mesothelioma, subsequent investigation failed to reveal mesothelial differentiation. Characterization of their histologic and immunohistochemical features, as well as identification in a multitude of nonmesothelial-based locations has further served to distinguish these lesions from the more diffuse and aggressive mesothelioma. Reports of solitary fibrous tumor in the larynx are extremely rare. We report a case of solitary fibrous tumor of the larynx in a 38-year-old man.

scholarly journals First Description of Colistin and Tigecycline-Resistant Acinetobacter baumannii Producing KPC-3 Carbapenemase in Portugal

Antibiotics ◽  
2018 ◽  
Vol 7 (4) ◽  
pp. 96 ◽  
Author(s):  
Cátia Caneiras ◽  
Filipa Calisto ◽  
Gabriela Jorge da Silva ◽  
Luis Lito ◽  
José Melo-Cristino ◽  
...  
Keyword(s):  
Case Report ◽  
High Risk ◽  
Acinetobacter Baumannii ◽  
University Hospital ◽  
Virulence Determinants ◽  
Molecular Screening ◽  
Pcr Screening ◽  
Carbapenem Resistant ◽  
Antimicrobial Resistance Profile

Herein, we describe a case report of carbapenem-resistant Acinetobacter baumannii and Klebsiella pneumoniae isolates that were identified from the same patient at a Tertiary University Hospital Centre in Portugal. Antimicrobial susceptibility and the molecular characterization of resistance and virulence determinants were performed. PCR screening identified the presence of the resistance genes blaKPC-3, blaTEM-1 and blaSHV-1 in both isolates. The KPC-3 K. pneumoniae isolate belonged to the ST-14 high risk clone and accumulated an uncommon resistance and virulence profile additional to a horizontal dissemination capacity. In conclusion, the molecular screening led to the first identification of the A. baumannii KPC-3 producer in Portugal with a full antimicrobial resistance profile including tigecycline and colistin.

scholarly journals Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34

2020 ◽  
Vol 11 ◽  
Author(s):  
Hairui Sun ◽  
Lu Han ◽  
Xiaoshan Zhang ◽  
Xiaoyan Hao ◽  
Xiaoxue Zhou ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Intronic Mutation
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