scholarly journals Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants

2021 ◽  
Vol 9 (8) ◽  
Author(s):  
Yannick Hurni ◽  
Martina Marangoni ◽  
Giulia Garofalo ◽  
Marie Cassart ◽  
Lisa Tomasi ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Spontaneous Resolution ◽  
Hydrops Fetalis ◽  
Gene Variants ◽  
Nonimmune Hydrops

The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencingThe monogenic background of hydrops fetalis.

2021 ◽  
Author(s):  
Tova Wagner ◽  
Duha Fahham ◽  
Frumkin Ayala ◽  
Avraham Shaag ◽  
Simcha Yagel ◽  
...  
Keyword(s):  
Hydrops Fetalis ◽  
The Many ◽  
Nonimmune Hydrops

scholarly journals Toll-like receptor-4 gene variations in Egyptian children with familial Mediterranean fever

2021 ◽  
Vol 48 (1) ◽  
Author(s):  
Yomna Farag ◽  
Samia Salah ◽  
Hanan Tawfik ◽  
Mai Hamed ◽  
Huda Marzouk
Keyword(s):  
Familial Mediterranean Fever ◽  
Disease Severity ◽  
Gene Mutation ◽  
Rflp Analysis ◽  
Gene Variants ◽  
Gene Variant ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Egyptian Children ◽  
Mediterranean Fever

Abstract Background Familial Mediterranean fever (FMF) is an autosomal recessive disorder affecting people in the region of the Mediterranean Sea. It is usually associated with mutation in Mediterranean fever (MEFV) gene that encodes the pyrin protein, which affects the innate inflammatory response. Toll-like receptors (TLR) are a family of pattern recognition receptors that recognize pathogenic microbes and activate antimicrobial defense mechanisms. Toll-like receptor 4 (TLR-4) is concerned with recognition of gram-negative organisms. There is growing clinical evidence suggesting a role for expression of TLRs in the immune pathogenesis of FMF. Thus, the aim of the current study was to evaluate the presence of TLR-4 (p.Asp299Gly) and TLR-4 (p.Thr399Ile) gene variants in association with Egyptian children having FMF, furthermore, its effect on disease course and severity. Results Seventy Egyptian children diagnosed as having FMF, together with 50 age and gender-matched controls were enrolled in the study. The TLR-4 (p.Asp299Gly) and (Thr399Ile) gene variants were determined by PCR-RFLP analysis for all studied patients and controls. TLR-4 p.Asp299Gly gene variant was detected in 1 (1.4%) of the patients and p.Thr399Ile gene variant was detected in 2 (2%). None of the controls had any of the two tested gene variants. All found variations were heterozygous. We could not find a statistically significant association with disease severity in cases with or without TLR-4 gene variants (P = 0.568). Patients with M694V gene mutation showed a higher disease severity (P = 0.035). Conclusion TLR-4 (p.Asp299Gly) and (p.Thr399Ile) gene variants were not found to have a link with the occurrence, the clinical picture of FMF, its severity, and response to colchicine treatment in Egyptian children. M694V gene mutation seems to be associated with higher disease severity. Further larger studies are needed to verify these results.

Lysosomal Storage Disorders as an Etiology of Nonimmune Hydrops Fetalis: A Systematic Review

2021 ◽  
Author(s):  
Neel S. Iyer ◽  
Alexis C. Gimovsky ◽  
Carlos R. Ferreira ◽  
Elizabeth J. Critchlow ◽  
Huda B. Al‐kouatly
Keyword(s):  
Systematic Review ◽  
Lysosomal Storage Disorders ◽  
Hydrops Fetalis ◽  
Lysosomal Storage ◽  
Nonimmune Hydrops ◽  
Storage Disorders

High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

2021 ◽  
Author(s):  
Huda B. Al-Kouatly ◽  
Mona M. Makhamreh ◽  
Stephanie M. Rice ◽  
Kelsey Smith ◽  
Christopher Harman ◽  
...  
Keyword(s):  
Hydrops Fetalis ◽  
Diagnosis Rate ◽  
Nonimmune Hydrops

Nonimmune Hydrops fetalis: Fetal and Neonatal Outcome during 1983–1992

Neonatology ◽  
1998 ◽  
Vol 75 (2) ◽  
pp. 73-81 ◽  
Author(s):  
Leontien S. Wafelman ◽  
Brad H. Pollock ◽  
Jacqueline Kreutzer ◽  
Douglas S. Richards ◽  
Alastair A. Hutchison
Keyword(s):  
Neonatal Outcome ◽  
Hydrops Fetalis ◽  
Nonimmune Hydrops
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