New mutation in TSC1-gene in a sporadic case with initially mild phenotype

2012 ◽  
Vol 43 (02) ◽  
Author(s):  
C Thiels ◽  
C Köhler ◽  
K Weigt-Usinger ◽  
C Sutter ◽  
T Lücke
2018 ◽  
Vol 28 (8) ◽  
pp. 633-638 ◽  
Author(s):  
Lidia Gonzalez-Quereda ◽  
Eduard Gallardo ◽  
Ana Töpf ◽  
Alicia Alonso-Jimenez ◽  
Volker Straub ◽  
...  

2015 ◽  
Vol 53 (4) ◽  
pp. 653-654
Author(s):  
Adina-Ioana Derevenciuc ◽  
Angela Abicht ◽  
Suad Hamza ◽  
Christian Roth ◽  
Andreas Ferbert

2018 ◽  
Vol 54 ◽  
pp. 39-44 ◽  
Author(s):  
Jianfei Cui ◽  
Xiaoman Yu ◽  
Shuli Liang ◽  
Shaohui Zhang ◽  
Xiaohong Hu

2002 ◽  
Vol 108 (1) ◽  
pp. 64-68 ◽  
Author(s):  
Chitra Prasad ◽  
Sandra Marles ◽  
Asuri N. Prasad ◽  
Sarah Nikkel ◽  
Sally Longstaffe ◽  
...  

2004 ◽  
Vol 10 (1) ◽  
pp. 61-64 ◽  
Author(s):  
Anna Maria Lombardi ◽  
Laura Cabrio ◽  
Ezio Zanon ◽  
Maria Teresa Sartori ◽  
Filippo Navaglia ◽  
...  

1998 ◽  
Vol 138 (3) ◽  
pp. 556-557 ◽  
Author(s):  
Lucke ◽  
Fallowfield ◽  
Kemmett

Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.


2019 ◽  
Vol 98 (7) ◽  
pp. 291-296

Introduction: Fournier’s gangrene is a rare but fast deteriorating and serious condition with high mortality. In most cases, it is characterized as necrotizing fasciitis of the perineum and external genitals. Amyand’s hernia is a rare condition where the appendix is contained in the sac of an inguinal hernia. Inflammatory alterations in the appendix account only for 0.1 % of the cases when Amyand’s hernia is verified. Fournier’s gangrene as a complication of a late diagnosis of appendicitis located in the inguinal canal is described in the literature as rare case reports. Case report: The case report of a 70-year-old patient with Fournier’s gangrene resulting from gangrenous appendicitis of Amyand’s hernia. Conclusion: Fournier’s gangrene as a complication of Amyand’s hernia is a rare condition. Only sporadic case reports thereof can be found in the literature. Because of the rarity of this pathology and the lack of randomized controlled studies, it is difficult to determine the optimal treatment according to the principles of evidence-based medicine. An appropriate approach for this condition appears to be the combination of guidelines developed in Amyand’s therapy according to Losanoff and Basson, along with the recommended “gold standard” therapy for Fournier’s gangrene. This means early and highly radical surgical debridement, adequate antibiotic therapy and intensive care.


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