Does a new mutation always predict a new disease? Lessons from p27 mutations

2013 ◽  
Author(s):  
Natalia Pellegata
Keyword(s):  
1997 ◽  
Vol 52 (9) ◽  
pp. 973-983 ◽  
Author(s):  
Leonard A. Jason ◽  
Judith A. Richman ◽  
Fred Friedberg ◽  
Lynne Wagner ◽  
Renee Taylor ◽  
...  

2012 ◽  
Vol 43 (02) ◽  
Author(s):  
C Thiels ◽  
C Köhler ◽  
K Weigt-Usinger ◽  
C Sutter ◽  
T Lücke

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.


2020 ◽  
Vol 99 (8) ◽  

Introduction: Despite the available guidelines, opinions of many surgeons are quite ambiguous when it comes to the therapy of pilonidal sinus disease. The treatment can be a frustrating problem both for the surgeon and the patient because it is associated with wound complications and high recurrence rate. The objective of this study was to analyze the results of patients with pilonidal sinus disease undergoing the Karydakis flap procedure. Methods: A total of 27 patients treated for primary and recurrent pilonidal disease using the Karydakis flap procedure at our department between October 23, 2018 and November 22, 2019 were analyzed prospectively. We evaluated postoperative wound healing, complications and recurrence of the disease in a short-term follow-up period. Disease recurrence was defined as prolonged healing or as a new disease requiring repeated surgery. Results: In December 2019 all 27 patients came for a follow-up visit. The result was a fully lateralized wound without any signs of a new disease in all patients. In May 2020 a follow-up visit by phone was performed. The median follow-up was 12 months. The healing process was free of any serious complications in 25 patients. Seroma formation cases were managed by puncture in the outpatient setting. Conclusion: According to the available evidence and guidelines, off-midline procedures – the Karydakis flap, Bascom cleft lift, and Limberg flap procedures – are associated with lower recurrence rates and better wound healing. An important goal is to achieve complete wound lateralization and to change the configuration of the gluteal cleft by reshaping it, which results in a nicely flattened gluteal crease.


2018 ◽  
Author(s):  
Ana Ruiz Serrano ◽  
Alessandra Gabillo Ciccia ◽  
Francisca Martinez Maduena ◽  
Salome Martinez Gonzalez ◽  
Josep Oriola Ambros ◽  
...  
Keyword(s):  

2020 ◽  
Vol 16 (3) ◽  
pp. 295-300
Author(s):  
Agnieszka Pawłowska-Kamieniak ◽  
◽  
Milena Wronecka ◽  
Natalia Panasiuk ◽  
Karolina Kasiak ◽  
...  

In December 2019, China reported cases of infections caused by a new zoonotic coronavirus, which gradually developed into a pandemic. The disease was initially believed to be mild in children. In April 2020, a possible relationship between a new paediatric multisystem inflammatory syndrome and SARS-CoV-2 was found. In May, the Royal College of Paediatrics and Child Health published the criteria for the diagnosis of this new disease. We present a case of a 6-year-old boy retrospectively diagnosed with SARS-CoV-2-related multisystem inflammatory syndrome based on medical history, physical examination, laboratory and imaging findings, as well as the available literature.


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