Background: The superior mesenteric artery (SMA) is exposed and dissected during pancreatic resections (PR) and mesenteric vascular surgery (MVS). The resulting damage of the surrounding extrinsic and intrinsic vegetative nerve plexus can lead to a temporary or treatment refractory diarrhea.
Objective: This study aimed to provide an overview of the current status of SMA revascularization and dissection-associated diarrhea (SMARD syndrome) in Germany.
Material And Methods: After a selective literature search (SLS) on the frequency of newly developed postoperative diarrhea after PR and MVS, an online survey was initiated.
Results: The SLS (n = 4) confirmed that newly developed postoperative diarrhea is a frequent complication after preparation for revascularization (RV) or dissection (DIS) of the SMA (incidence approximately 62%). Treatment refractive courses were relatively uncommon with 14%. Out of 159 centers 54 took part in the survey and 63% stated that they carried out an SMA RV/DIS during PR or MVS. The average PR per center was 47 in 2018 and 49 in 2019. The average MVS was 5 per center in both years and on average 3 patients suffered from SMARD syndrome.
Conclusion: This survey recorded the current status of the SMARD syndrome in Germany for the first time. So far there are no recommendations for the treatment of such a diarrhea. The results show that initially a symptomatic treatment should be carried out. Due to the complexity of the pathophysiology, causal treatment approaches have not yet been developed.
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http://dx.doi.org/10.1007/s00104-021-01427-4 | DOI Listing |
Genes (Basel)
April 2022
Department of Family and Paediatric Nursing, Medical University, 50-996 Wroclaw, Poland.
LAS1L encodes a nucleolar ribosomal biogenesis protein and is also a component of the Five Friends of Methylated CHTOP (5FMC) complex. Mutations in the LAS1L gene can be associated with Wilson−Turner syndrome (WTS) and, much more rarely, severe infantile hypotonia with respiratory failure. Here, we present an eighteen-month old boy with a phenotype of spinal muscular atrophy with respiratory distress (SMARD).
View Article and Find Full Text PDFChirurg
February 2022
Chirurgische Klinik, Universitätsmedizin Mannheim, Medizinische Fakultät Mannheim, Universität Heidelberg, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Deutschland.
Background: The superior mesenteric artery (SMA) is exposed and dissected during pancreatic resections (PR) and mesenteric vascular surgery (MVS). The resulting damage of the surrounding extrinsic and intrinsic vegetative nerve plexus can lead to a temporary or treatment refractory diarrhea.
Objective: This study aimed to provide an overview of the current status of SMA revascularization and dissection-associated diarrhea (SMARD syndrome) in Germany.
Eur J Med Genet
October 2018
Department of Intensive Care Unit, Children's Hospital of Soochow University, Suzhou, Jiangsu, China. Electronic address:
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disease characterized by infancy-onset diaphragmatic palsy and symmetrical distal muscular weakness. SMARD1 is caused by loss-of-function mutations in IGHMBP2 gene. In this article, we report a male SMARD1 patient with two compound heterozygous mutations (NM_002180.
View Article and Find Full Text PDFJ Cell Biol
July 2015
Department of Cell Biology, Albert Einstein College of Medicine, New York, NY 10461
Based on its in vitro unwinding activity on G-quadruplex (G4) DNA, the Bloom syndrome-associated helicase BLM is proposed to participate in telomere replication by aiding fork progression through G-rich telomeric DNA. Single molecule analysis of replicated DNA (SMARD) was used to determine the contribution of BLM helicase to telomere replication. In BLM-deficient cells, replication forks initiating from origins within the telomere, which copy the G-rich strand by leading strand synthesis, moved slower through the telomere compared with the adjacent subtelomere.
View Article and Find Full Text PDFJ Child Neurol
June 2014
Department of Medical Chemistry and Biochemistry, Sofia Medical University Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria.
A family with 2 siblings with severe spinal muscular atrophy with respiratory distress 1 (SMARD1) was genetically proved to be caused by mutations in IGHMBP2 gene. Both patients developed progressive muscular weakness and respiratory distress and died before 6 months of age. One novel deletion, c.
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