scholarly journals Characterization of seizure-induced syncopes: EEG, ECG, and clinical features

Epilepsia ◽  
2013 ◽  
Vol 55 (1) ◽  
pp. 146-155 ◽  
Author(s):  
Vi-Huong Nguyen-Michel ◽  
Claude Adam ◽  
Vera Dinkelacker ◽  
Phintip Pichit ◽  
Yasmina Boudali ◽  
...  
Keyword(s):  
Clinical Features

scholarly journals TRENDS OF CONTEMPORARY LEPTOSPIROSIS (REVIEW OF LITERATURE)

2018 ◽  
Vol 23 (2) ◽  
pp. 93-100
Author(s):  
Vladimir N. Gorodin ◽  
D. L. Moysova ◽  
V. A. Bakhtina ◽  
S. V. Zotov
Keyword(s):  
Organ Dysfunction ◽  
Clinical Features ◽  
Review Of Literature ◽  
Review Of The Literature ◽  
Disease Complex ◽  
Modern Information ◽  
Clinically Significant

A review of the literature is devoted to one of the most common and clinically significant zoonoses - leptospirosis. The article summarizes modern information on prevalence, epidemiology, etiopathogenesis and clinical features, diagnosis of leptospirosis infection over the last 10 years. The particular attention is paid to the characterization of severe forms of the disease, complex approaches to the treatment of the disease, correction of organ dysfunction and hemostasis disorders; review.

scholarly journals Characterization of transcriptome profile and clinical features of a novel immunotherapy target CD204 in diffuse glioma

2019 ◽  
Vol 8 (8) ◽  
pp. 3811-3821 ◽  
Author(s):  
Yongliang Yuan ◽  
Qitai Zhao ◽  
Songfeng Zhao ◽  
Penghua Zhang ◽  
Haibiao Zhao ◽  
...  
Keyword(s):  
Clinical Features ◽  
Diffuse Glioma ◽  
Transcriptome Profile ◽  
Immunotherapy Target

Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome

2006 ◽  
Vol 140A (7) ◽  
pp. 704-708 ◽  
Author(s):  
Sharon L. Wenger ◽  
Paul D. Grossfeld ◽  
Benjamin L. Siu ◽  
James E. Coad ◽  
Frank G. Keller ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Clinical Features ◽  
Interstitial Deletion ◽  
Jacobsen Syndrome

Clinical features and morphological characterization of 10 patients with noninsulinoma pancreatogenous hypoglycaemia syndrome (NIPHS)

2006 ◽  
Vol 65 (5) ◽  
pp. 566-578 ◽  
Author(s):  
Justin G. S. Won ◽  
Hsiao-Shan Tseng ◽  
An-Hang Yang ◽  
Kam-Tsun Tang ◽  
Tjin-Shing Jap ◽  
...  
Keyword(s):  
Clinical Features ◽  
Morphological Characterization

scholarly journals Clinical Features and Outcomes of Patients With Symptomatic Kaposi Sarcoma Herpesvirus (KSHV)-associated Inflammation: Prospective Characterization of KSHV Inflammatory Cytokine Syndrome (KICS)

2015 ◽  
Vol 62 (6) ◽  
pp. 730-738 ◽  
Author(s):  
Mark N. Polizzotto ◽  
Thomas S. Uldrick ◽  
Kathleen M. Wyvill ◽  
Karen Aleman ◽  
Vickie Marshall ◽  
...  
Keyword(s):  
Clinical Features ◽  
Inflammatory Cytokine ◽  
Kaposi Sarcoma

Extrainstestinal Microsporidiosis in AIDS Patients: Clinical Features and Advanced Protocols for Diagnosis and Characterization of the Isolates

1997 ◽  
Vol 44 (s6) ◽  
pp. 79s-79s ◽  
Author(s):  
SIMONETTA GATTI ◽  
LUCIANO SACCHI ◽  
STEFANO NOVATI ◽  
SILVIA CORNONA ◽  
ANNA MARIA BERNUZZP ◽  
...  
Keyword(s):  
Clinical Features ◽  
Aids Patients

Characterization of clinical features and outcome for human-to-human transmitted severe fever with thrombocytopenia syndrome

2018 ◽  
Vol 50 (8) ◽  
pp. 601-608 ◽  
Author(s):  
Bei Jia ◽  
Weihua Wu ◽  
Rui Huang ◽  
Guiyang Wang ◽  
Peixin Song ◽  
...  
Keyword(s):  
Clinical Features ◽  
Severe Fever

scholarly journals Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Guanghui Zhu ◽  
Yu Zheng ◽  
Yaoxi Liu ◽  
An Yan ◽  
Zhengmao Hu ◽  
...  
Keyword(s):  
Clinical Features ◽  
De Novo ◽  
Bone Fractures ◽  
Neurofibromatosis Type ◽  
Clinical Analysis ◽  
Congenital Pseudarthrosis ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
New Perspective

Abstract Background Congenital pseudarthrosis of the tibia (CPT) is a rare disease. Some patients present neurofibromatosis type 1 (NF1), while some others do not manifest NF1 (non-NF1). The etiology of CPT, particularly non-NF1 CPT, is not well understood. Here we screened germline variants of 75 CPT cases, including 55 NF1 and 20 non-NF1. Clinical data were classified and analyzed based on NF1 gene variations to investigate the genotype-phenotype relations of the two types of patients. Results Using whole-exome sequencing and Multiplex Ligation-Dependent Probe Amplification, 44 out of 55 NF1 CPT patients (80.0%) were identified as carrying pathogenic variants of the NF1 gene. Twenty-five variants were novel; 53.5% of variants were de novo, and a higher proportion of their carriers presented bone fractures compared to inherited variant carriers. No NF1 pathogenic variants were found in all 20 non-NF1 patients. Clinical features comparing NF1 CPT to non-NF1 CPT did not show significant differences in bowing or fracture onset, lateralization, tissue pathogenical results, abnormality of the proximal tibial epiphysis, and follow-up tibial union after surgery. A considerably higher proportion of non-NF1 patients have cystic lesion (Crawford type III) and used braces after surgery. Conclusions We analyzed a large cohort of non-NF1 and NF1 CPT patients and provided a new perspective for genotype-phenotype features related to germline NF1 variants. Non-NF1 CPT in general had similar clinical features of the tibia as NF1 CPT. Germline NF1 pathogenic variants could differentiate NF1 from non-NF1 CPT but could not explain the CPT heterogeneity of NF1 patients. Our results suggested that non-NF1 CPT was probably not caused by germline NF1 pathogenic variants. In addition to NF1, other genetic variants could also contribute to CPT pathogenesis. Our findings would facilitate the interpretation of NF1 pathogenic variants in CPT genetic counseling.

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