scholarly journals PREDICTING THE RISK OF DEVELOPING ABDOMINAL ADHESIONS IN CHILDREN DEPENDING ON ACETYLATION GENOTYPE

2021 ◽  
Vol 29 (5) ◽  
pp. 573-580
Author(s):  
M.G. Melnychenko ◽  
◽  
A.A. Kvashnina ◽  
P.B. Antonenko ◽  
K.A. Antonenko ◽  
...  
Keyword(s):  
Risk Factors ◽  
Genetic Polymorphism ◽  
Intestinal Obstruction ◽  
Single Case ◽  
Point Mutations ◽  
Mutant Gene ◽  
Main Group ◽  
Wild Type ◽  
Abdominal Adhesions ◽  
Adhesive Intestinal Obstruction

Objective. To determine the predictive value of the genetic polymorphism of the N-arylacetyltransferase-2 (NAT-2) gene for assessing the risk of postoperative adhesive intestinal obstruction in children. Methods. In all children (36 children with adhesive intestinal obstruction (main group) and 35 planned patients (comparative group)) the acetylation genotype was studied by detecting point mutations of the NAT-2 gene using allele-specific amplification method with analysis of apolymerase chain reaction-restrictionfragmentlengthpolymorphism. Results. The study of the frequency of mutations at position 481 revealed the greatest diversity of the studied variants of genotypes: 33.3% of the children of the main group were homozygous for the wild-type gene, 44.4% were heterozygotes, 22.2% of patients had a homozygous mutant gene. According to the NAT-2 * 6A genotype (G 590 - A), the majority of patients (55.6%) were heterozygotes, 44.4% were homozygotes with the wild-type of the gene. Not a single case of mutation at position 857 has been identified. Among the children of the main group, the share of «fast» acetylators was 69.4%, in the comparison group - 40.0% (χ<sup>2</sup>=6.215; p=0.013). The development of postoperative adhesive intestinal obstruction in children with the “fast” acetylation genotype occurred in the absence of clinical and anamnestic risk factors and was characterized by a greater severity and prevalence of intra-abdominal adhesive process (PAI was (14.8±1.8) and (8.1±2.4 ), respectively). Conclusion. The risk of developing postoperative adhesive complications in children can be done preventively by determining the genetic polymorphism of the N-acetyltransferase-2 gene. The risk group for developing adhesive intestinal obstruction is made up of children who are the carriers of NAT-2 alleles and correspond to the genotype of «fast» and «moderate» acetylation. Children who are «fast» acetylators have a more pronounced intra-abdominal adhesion process and a higher risk of complications associated with excessive adhesion even in the absence of other risk factors. What this paper adds N-acetyltransferase 2 (NAT2) gene polymorphism as a prognostic risk factor for the development of adhesive intestinal obstruction in children has been studied. Children as the carriers of the «fast» acetylator genotype have a higher risk of developing intra-abdominal adhesions and therefore require more comprehensive preventive measures at all stages of possible influence.

scholarly journals Modern Methods of Preventing Recurrent Adhesive Intestinal Obstruction in Children

2016 ◽  
Vol 23 (3) ◽  
Author(s):  
Oleksandr Fofanov ◽  
Oleg Matiyash ◽  
Vyacheslav Fofanov ◽  
Oleg Kurtash ◽  
Igor Krasivs'kij ◽  
...  
Keyword(s):  
Intestinal Obstruction ◽  
Comparison Group ◽  
Treatment Effectiveness ◽  
Main Group ◽  
High Rate ◽  
Hospital Treatment ◽  
Gastric Stasis ◽  
Postoperative Course ◽  
Feeding Duration ◽  
Adhesive Intestinal Obstruction

Adhesive intestinal obstruction is one of the most urgent problems in pediatric abdominal surgery due to its high rate resulting in a lot of complications, recurrences and relaparotomies.The objective of the research was to examine the clinical efficacy of using intraoperative antiadhesive drugs in children to prevent recurrent adhesive intestinal obstruction.Materials and methods. The examination and analysis of medical records of 86 children with adhesive intestinal obstruction treated in the clinic of pediatric surgery of the Ivano-Frankivsk National Medical University over the past 5 years was carried out. We identified two groups of patients: the comparison group included 40 children who received traditional treatment; the main group included 14 children who underwent the application of antiadhesive gel intraoperatively. The assessment of treatment effectiveness was carried out on the base of the postoperative course (recovery time of intestinal peristalsis, onset of enteral feeding, duration of hospital stay, incidence of early postoperative complications) and long-term outcomes (severity of adhesive disease symptoms, presence of recurrent adhesive intestinal obstruction and relaparotomies).Results and discussion. In comparative evaluation of the postoperative course in two groups of patients we noticed a more favorable course in children of the main group that was shown by faster recovery of peristalsis, reduced duration of gastric stasis, quicker occurrence of self-defecation and shortened term of hospital treatment. In the comparison group recurrent adhesive intestinal obstruction occurred in 8 (20.0%) patients, in 6 (15.0%) cases relaparotomy was performed. In the main group of patients, recurrent adhesive intestinal obstruction was observed in one (7.1%) child; however, relaparotomy was not performed.Conclusions. The intraoperative application of antiadhesive gel is a highly effective and safe way to prevent the recurrence of adhesive intestinal obstruction in children.

scholarly journals Point Mutations in Exon I of the Herpes Simplex Virus Putative Terminase Subunit, UL15, Indicate that the Most Conserved Residues Are Essential for Cleavage and Packaging

2003 ◽  
Vol 77 (17) ◽  
pp. 9613-9621 ◽  
Author(s):  
Angela J. Przech ◽  
Dong Yu ◽  
Sandra K. Weller
Keyword(s):  
Herpes Simplex Virus ◽  
Herpes Simplex ◽  
Point Mutations ◽  
Mutant Gene ◽  
Vero Cells ◽  
Amino Acid Residues ◽  
Wild Type ◽  
Viral Genomes ◽  
Conserved Regions ◽  
Simplex Virus

ABSTRACT The herpes simplex virus UL15 and UL28 genes are believed to encode two subunits of the terminase involved in cleavage and packaging of viral genomes. Analysis of the UL15 protein sequence and its herpesvirus homologues revealed the presence of 20 conserved regions. Twelve of the twenty regions conserved among herpesviruses are also conserved in terminases from DNA bacteriophage. Point mutations in UL15 were designed in four conserved regions: L120N (CR1), Q205E (CR2), Q251E (CR3), G263A (CR3), and Y285S (CR4). Transfection experiments indicated that each mutant gene could produce stable UL15 protein at wild-type levels; however, only one mutant (Q251E) was able to complement the UL15-null virus. Each mutation was introduced into the viral genome by marker transfer, and all mutants except Q251E were unable to form plaques on Vero cells. Furthermore, failure to form plaques on Vero cells correlated with a defect in cleavage and packaging. Immunofluorescence experiments indicated that in cells infected with all mutant viruses the UL15 protein could be detected and was found to localize to replication compartments. Although wild-type and mutant Q251E were able to produce A, B, and C capsids, the rest of the mutants were only able to produce B capsids, a finding consistent with their defects in cleavage and packaging. In addition, all mutant UL15 proteins retained their ability to interact with B capsids. Therefore, amino acid residues 120, 205, 263, and 285 are essential for the cleavage and packaging process rather than for association with capsids or localization to replication compartments.

scholarly journals HOSPITAL EPIDEMIOLOGY OF ABDOMINAL ADHESIONS

2016 ◽  
Vol 1 (4) ◽  
pp. 115-118 ◽  
Author(s):  
Аюшинова ◽  
Natalya Ayushinova ◽  
Шурыгин ◽  
Mikhail Shurygin ◽  
Шурыгина ◽  
...  
Keyword(s):  
Intestinal Obstruction ◽  
Clinical Symptoms ◽  
Abdominal Cavity ◽  
Abdominal Adhesions ◽  
Hospital Epidemiology ◽  
Surgical Interventions ◽  
Adhesive Intestinal Obstruction ◽  
Intestinal Fistulas ◽  
Regional Hospitals ◽  
Methods Of Treatment

The purpose of the research was to establish main causes of development and outcomes of adhesive obstruction.We analyzed the outcomes of treatment of 154 patients with acute intestinal obstruction. The following data were taken into consideration: age, gender, surgeries in past medical history, terms of adhesions manifestations, clinical symptoms, findings of additional examinations, methods of treatment, outcome. It has been established, that the most frequent causes of adhesions were appendectomy (23%), stomach operations (21 %) and gynecological interventions (14 %). After surgeries performed in conditions of regional hospitals, adhesions developed after appendectomy, gynecological operations and interventions on the intestine. In patients operated in city hospitals intestinal obstruction more often occurred after extensive operations on the stomach, appendix, and after gynecological interventions. Urgent surgical interventions more often led to adhesive process in the abdominal cavity (63 %). Mortality made 5.8 %. Causes of death were intestinal fistulas and abdominal sepsis.Thus, acute adhesive intestinal obstruction as an extreme form of abdominal adhesions continues to be an urgent medical issue.

scholarly journals The Advantages of Minimally Invasive Surgery for Peritoneal Adhesions in Children

2018 ◽  
Vol 15 (3) ◽  
pp. 260-263
Author(s):  
Elena Yu. Dyakonova ◽  
Igor V. Poddubny ◽  
Аlexey A. Gusev ◽  
Аleksandr S. Bekin
Keyword(s):  
Laparoscopic Surgery ◽  
Intestinal Obstruction ◽  
Laparoscopic Approach ◽  
Main Group ◽  
Control Group ◽  
Peritoneal Adhesions ◽  
Surgical Interventions ◽  
Randomized Controlled Studies ◽  
Adhesive Intestinal Obstruction ◽  
Adhesive Obstruction

Background.Laparoscopic surgery has advantages over laparotomy. In pediatric practice, only single studies have been devoted to the leading role of laparoscopy in the treatment of peritoneal adhesions in children; randomized controlled studies have not been conducted.Objective.Our aim was to assess the advantages of laparoscopic methods of surgical treatment in patients with adhesive intestinal obstruction.Results.The main group included 58 children aged from 10 days to 18 years who underwent laparoscopic surgery. The control group included 49 children with acute adhesive intestinal obstruction. The incidence of early and late adhesive obstruction was 18 (31%) and 40 (69%) cases in the main group, 21 (42.9%) and 28 (57.1%) cases in the control group. The number of previous surgical interventions in the main group ranged from 1 to 6, in the control group – from 1 to 7. The advantages of a laparoscopic approach to the treatment of acute adhesive obstruction are confirmed by a significantly lower expression of the postoperative intestinal paresis and rapid recovery of peristalsis, early onset of enteral nutrition, and relatively rapid discharge from the hospital. It is important to note the absence of early and late postoperative complications in the laparoscopic group, especially repeated cases of intestinal obstruction (in contrast to the control group where two patients required repeated operations for obstruction).Conclusion.Laparoscopic technologies are a method of choice in the treatment of children with acute adhesive intestinal obstruction regardless of the age of patients, the extent of the adhesion process, the anatomical mechanism of intestinal obstruction.

Risk factors in elderly taking psychotropic drugs: Significance of genetic polymorphism in drug oxidation

1993 ◽  
Vol 47 (sup28) ◽  
pp. 85-89 ◽  
Author(s):  
Lars F. Gram ◽  
Kim Brøsen ◽  
Søren H. Sindrup ◽  
Erik Skjelbo
Keyword(s):  
Risk Factors ◽  
Genetic Polymorphism ◽  
Psychotropic Drugs ◽  
Drug Oxidation

scholarly journals CHROMOSOMAL BASIS OF THE MEROZYGOSITY IN A PARTIALLY DIPLOID MUTANT OF PNEUMOCOCCUS

Genetics ◽  
1975 ◽  
Vol 80 (4) ◽  
pp. 667-678
Author(s):  
Mary Lee S Ledbetter ◽  
Rollin D Hotchkiss
Keyword(s):  
High Efficiency ◽  
Point Mutations ◽  
Resistant Mutant ◽  
Chromosomal Marker ◽  
Structural Abnormality ◽  
C Cells ◽  
Wild Type ◽  
Chromosomal Locus ◽  
Low Efficiency ◽  
Derivatives Of

ABSTRACT A sulfonamide-resistant mutant of pneumococcus, sulr-c, displays a genetic instability, regularly segregating to wild type. DNA extracts of derivatives of the strain possess transforming activities for both the mutant and wild-type alleles, establishing that the strain is a partial diploid. The linkage of sulr-c to strr-61, a stable chromosomal marker, was established, thus defining a chromosomal locus for sulr-c. DNA isolated from sulr-c cells transforms two mutant recipient strains at the same low efficiency as it does a wild-type recipient, although the mutant property of these strains makes them capable of integrating classical "low-efficiency" donor markers equally as efficiently as "high efficiency" markers. Hence sulr-c must have a different basis for its low efficiency than do classical low efficiency point mutations. We suggest that the DNA in the region of the sulr-c mutation has a structural abnormality which leads both to its frequent segregation during growth and its difficulty in efficiently mediating genetic transformation.

scholarly journals A procedure to introduce point mutations into the Rubisco large subunit gene in wild‐type plants

2021 ◽  
Author(s):  
Myat T. Lin ◽  
Douglas J. Orr ◽  
Dawn Worrall ◽  
Martin A. J. Parry ◽  
Elizabete Carmo‐Silva ◽  
...  
Keyword(s):  
Large Subunit ◽  
Point Mutations ◽  
Subunit Gene ◽  
Wild Type

scholarly journals Kenyan Plasmodium falciparum Field Isolates: Correlation between Pyrimethamine and Chlorcycloguanil Activity In Vitro and Point Mutations in the Dihydrofolate Reductase Domain

1998 ◽  
Vol 42 (1) ◽  
pp. 164-169 ◽  
Author(s):  
A. Nzila-Mounda ◽  
E. K. Mberu ◽  
C. H. Sibley ◽  
C. V. Plowe ◽  
P. A. Winstanley ◽  
...  
Keyword(s):  
Plasmodium Falciparum ◽  
Dihydrofolate Reductase ◽  
Drug Response ◽  
Point Mutations ◽  
Distinct Group ◽  
Wild Type ◽  
Field Isolates ◽  
Vitro Data ◽  
In Vitro Data

ABSTRACT Sixty-nine Kenyan Plasmodium falciparum field isolates were tested in vitro against pyrimethamine (PM), chlorcycloguanil (CCG), sulfadoxine (SD), and dapsone (DDS), and their dihydrofolate reductase (DHFR) genotypes were determined. The in vitro data show that CCG is more potent than PM and that DDS is more potent than SD. DHFR genotype is correlated with PM and CCG drug response. Isolates can be classified into three distinct groups based on their 50% inhibitory concentrations (IC50s) for PM and CCG (P< 0.01) and their DHFR genotypes. The first group consists of wild-type isolates with mean PM and CCG IC50s of 3.71 ± 6.94 and 0.24 ± 0.21 nM, respectively. The second group includes parasites which all have mutations at codon 108 alone or also at codons 51 or 59 and represents one homogeneous group for which 25- and 6-fold increases in PM and CCG IC50s, respectively, are observed. Parasites with mutations at codons 108, 51, and 59 (triple mutants) form a third distinct group for which nine- and eightfold increases in IC50s, respectively, of PM and CCG compared to the second group are observed. Surprisingly, there is a significant decrease (P < 0.01) of SD and DDS susceptibility in these triple mutants. Our data show that more than 92% of Kenyan field isolates have undergone at least one point mutation associated with a decrease in PM activity. These findings are of great concern because they may indicate imminent PM-SD failure, and there is no affordable antimalarial drug to replace PM-SD (Fansidar).

Molecular Markers for Rapidly Identifying Candidate Genes in Chlamydomonas reinhardtii: ERY1 and ERY2 Encode Chloroplast Ribosomal Proteins

Genetics ◽  
2003 ◽  
Vol 164 (4) ◽  
pp. 1345-1353
Author(s):  
Amber K Bowers ◽  
Jennifer A Keller ◽  
Susan K Dutcher
Keyword(s):  
Molecular Markers ◽  
Chlamydomonas Reinhardtii ◽  
Candidate Genes ◽  
Splice Site ◽  
Genomic Dna ◽  
Ribosomal Proteins ◽  
Genomic Sequence ◽  
Point Mutations ◽  
Acceptor Site ◽  
Wild Type

Abstract To take advantage of available expressed sequence tags and genomic sequence, we have developed 64 PCR-based molecular markers in Chlamydomonas reinhardtii that map to the 17 linkage groups. These markers will allow the rapid association of a candidate gene sequence with previously identified mutations. As proof of principle, we have identified the genes encoded by the ERY1 and ERY2 loci. Mendelian mutations that confer resistance to erythromycin define three unlinked nuclear loci in C. reinhardtii. Candidate genes ribosomal protein L4 (RPL4) and L22 (RPL22) are tightly linked to the ERY1 locus and ERY2 locus, respectively. Genomic DNA for RPL4 from wild type and five mutant ery1 alleles was amplified and sequenced and three different point mutations were found. Two different glycine residues (G102 and G112) are replaced by aspartic acid and both are in the unstructured region of RPL4 that lines the peptide exit tunnel of the chloroplast ribosome. The other two alleles change a splice site acceptor site. Genomic DNA for RPL22 from wild type and three mutant ery2 alleles was amplified and sequenced and revealed three different point mutations. Two alleles have premature stop codons and one allele changes a splice site acceptor site.

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