Candidate gene analysis in pathogenesis of surgically and non-surgically treated necrotizing enterocolitis in preterm infants.

Necrotizing enterocolitis (NEC) is one of the most severe and unpredictable complications of prematurity. There are two possible mechanisms involved in the pathogenesis of NEC: individual inflammatory response and impaired blood flow in mesenteric vessels with secondary ischemia of the intestine. The aim of this study was to evaluate the possible relationship between polymorphisms: Il-1ß 3953C>T, Il-6 -174G>C and -596G>A, TNFα -308G>A, and 86 bp variable number tandem repeat polymorphism of interleukin-1 receptor antagonist (Il-1RN VNTR 86 bp) and three polymorphisms that may participate in arteries tension regulation and in consequence in intestine blood flow impairment: eNOS (894G>T and -786T>C) and END-1 (5665G>T) and NEC in 100 infants born from singleton pregnancy, before 32 + 0 weeks of gestation, exposed to antenatal steroids therapy, and without congenital abnormalities. In study population, 22 (22%) newborns developed NEC. Surgery-requiring NEC was present in 7 children. Statistical analysis showed 20-fold higher prevalence of NEC in infants with the genotype TT [OR 20 (3.71-208.7); p = 0.0004] of eNOS 894G>T gene polymorphism. There was a higher prevalence of allele C carriers of eNOS 786T>C in patients with surgery-requiring NEC [OR 4.881 (1.33-21.99); p = 0.013]. Our investigation did not confirm any significant prevalence for NEC development in another studied genotypes/alleles. This study confirms the significant role of polymorphisms that play role in intestine blood flow. Identifying gene variants that increase the risk for NEC development may be useful in screening infants with inherent vulnerability and creating strategies for individualized care.

Are there any factors influencing the course of multistage treatment in Hirschsprung's disease?

INTRODUCTION: Surgical treatment of Hirschsprung's disease may be performed in a single step, or in stages with a temporary stoma. The therapy depends on the clinical condition of the patient and the severity of symptoms. Planned multistage treatment is carried out in two or three steps. AIM: To analyse our 15 years of experience with multistage surgery for the treatment of Hirschsprung's disease, to identify multistage-related factors influencing the course of surgery and hospitalisation, and to evaluate the probability of complications during multistage treatment. MATERIAL AND METHODS: The study material was collected on the basis of documentation of patients treated during the years 2000 to 2014. The parameters concerning surgery and hospitalisation were statistically analysed. RESULTS: Twenty nine patients were treated with multistage surgery using the following methods: Duhamel-Martin and Transanal Endorectal Pull-Through (TEPT). There were significant correlations (p < 0.05) between length of resected intestine and operative time. Classification and Regression Tree (CRT) was used to classify the operated children depending on the presentence of complications after surgery. CONCLUSIONS: The incidence of complications during multistage treatment for both methods was comparable. It is difficult to objectively compare the Duhamel-Martin and TEPT techniques because of the different indicators for their use in multistage surgery. Intestinal adhesions were the most common complication after definitive surgery. Younger age of the operated patients was associated with greater risk of adhesion formation.

A 15-Year Experience with the One-Stage Surgery for Treatment of Hirschsprung's Disease in Newborns, Infants, and Young Children.

The treatment of Hirschsprung's disease has changed over the past several years. Significant modifications occurred after the implementation of surgery without laparotomy, using transanal access. The type of this surgery depends on the condition and the age of a child. The aim of the study was to summarize our 15-year experience with one-stage surgery for the treatment of Hirschsprung's disease in the wider context of current clinical practice and to identify transanal endorectal pull-through-related factors influencing the surgery and hospitalization. The retrospective analysis of newborns, infants, and young children was performed between 2000 and 2014. Four girls and 29 boys were operated on. The parameters describing the surgery and the hospitalization were analyzed. The number of patients treated using transanal endorectal pull-through technique was 30, and Duhamel-Martin, 3. There were significant correlations (p < 0.05) between necessity of blood transfusion, length of resected intestine, operative time, the number of intraoperative histopathological assessments, and length of hospitalization. The time of one-step surgery is extended because of waiting for repeated intraoperative histopathological assessment of the level of resection. More extended bowel resection is connected with longer length of hospitalization and, more often, necessity of blood transfusion.

Congenital midgut volvulus associated with fetal anemia.

Congenital volvulus is a life-threatening condition, both for the fetus and for the newborn. A volvulus is a twist of small bowel loops or a proximal part of the colon around the mesenteric artery or its branches. The potential consequences of volvulus are ileus and necrosis of the intestinal wall. Prenatal diagnosis of midgut volvulus is difficult. It should be suspected antenatally when polyhydramnios, intestinal dilatation, ascites and/or signs of fetal anemia are present on ultrasound assessment. We report a case of a congenital midgut volvulus associated with fetal anemia. The fetal ultrasound performed at 32 weeks' gestation showed a polyhydramnios, hydrothorax, thick ascites accumulation around the liver and the suspicion of a dilated bowel loop. Additionally, Doppler examination showed an increased value of peak systolic velocity in the middle cerebral artery. Cordocentesis confirmed significant fetal anemia. At 34 weeks, because of the suspicion of idiopathic meconium ileus and secondary anemia, a Cesarean section was performed after the administration of steroids. During the laparatomy, performed postnatally, a midgut volvulus was diagnosed. The affected portion of the ileum was resected and end-to-end anastomosis performed. An antenatal diagnosis of midgut volvulus should be considered when signs of fetal anemia, including an increased value of peak systolic velocity in the middle cerebral artery, are present with polyhydramnios, fetal ascites, dilated bowel loops on antenatal ultrasound. An assessment of the fetal hemodynamic status should be a part of the ultrasound assessment for patients with nonspecific fetal bowel pathologies, including congenital volvulus.

The changing face of the exocrine pancreas in cystic fibrosis: pancreatic sufficiency, pancreatitis and genotype.

(Table is included in full-text article.)Cystic fibrosis (CF) is the most frequent cause of exocrine pancreatic insufficiency in childhood. The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes CFTR protein that functions as cyclic AMP-dependent chloride channel allowing the passage of anions and secondarily water into the lumen of pancreatic ducts. Luminal chlorides are exchanged for bicarbonates. The lack of CFTR channel or its disrupted function (being the consequence of CFTR gene mutations) results in reduced volume of more acidic secretion. It has been suggested that such a situation leads to the precipitation of highly concentrated protein-containing secretion with obstruction and organ damage. The intensity of this process determines the progression of the disease. Steatorrhea is the significant symptom of classical form of CF. Residual pancreatic secretion in a subset of patients, however, allows for normal lipid digestion and absorption. Previous cross-sectional clinical studies estimated that about 85-90% of CF patients in preschool, school and older age are pancreatic insufficient. More frequent detection of mild and nonclassic forms of CF leads to higher frequency of pancreatic sufficiency (PS). The potential decline of exocrine pancreatic function, however, should be always considered. All PS patients with at least one severe or unknown CFTR mutation should be longitudinally assessed for the progression of pancreatic dysfunction. Recurrent acute and chronic pancreatitis is not a rare clinical condition in PS patients with PS: it might be the presenting symptom, even preceding CF diagnosis by several years. Potential appearance of this complication in individuals with pancreatic insufficiency demands elucidation.

Fecal pyruvate kinase: a potential new marker for intestinal inflammation in children with inflammatory bowel disease.

OBJECTIVE: Inflammatory bowel disease (IBD) in children creates diagnostic and clinical challenges. Clinical data, endoscopic appearance and the histopathological assessment of biopsies are essential for diagnosis. However, new methods are required for non-invasive follow-up. Recently, we demonstrated that the dimeric isoform of pyruvate kinase (PK) detected in stool might serve as a potential non-invasive screening tool in inflamed pouch mucosa. The aim of this study was to investigate whether this test could be used to detect intestinal inflammation in pediatric IBD patients. MATERIAL AND METHODS: Fecal PK immunoreactivity was assessed in 75 patients with proven ulcerative colitis (UC) and 32 with Crohn's disease (CD). Pediatric Crohn Disease Activity Index (PCDAI) and Truelove-Witts scores were determined in CD and UC patients, respectively. Thirty-five healthy subjects (HS) served as a control group. RESULTS: Increased PK levels were documented in 94.1% and 100% active CD patients with a cut-off level of 5 U/g and a cut-off level of 4 U/g, respectively, and in 94.3% of active UC patients regardless of cut-off level. Enzyme immunoreactivity was significantly higher in all IBD patients than in HS. Abnormal PK results were documented in 71.7% of all IBD patients (65.3% and 84.4 for UC and CD patients, respectively). Enzyme levels in UC remission were significantly lower than in the active phase. Enzyme immunoreactivity significantly correlated to both scoring systems. CONCLUSIONS: The measurement of stool PK could be a potentially useful marker of IBD activity in children. However, its clinical value demands further studies for comparison with other tests.

Congenital heart defect with associated malformations in children.

BACKGROUND: Children with multisystem involvement including congenital heart defect (CHD) are a very salient problem. The purpose of this study was to evaluate the incidence of CHD associated with malformations of other systems and to assess the modalities of treatment and perioperative mortality among patients referred to the department of pediatric cardiac surgery. METHODS: The medical records of 1856 children were reviewed retrospectively from 1997 to 2002 to establish CHD and types of associated malformations. The connections between CHD and other lesions were investigated. Furthermore, the influence of patient and perioperative variables on mortality risk was scrutinized. Univariate and multivariate analyses were used. RESULTS: Eighty-four children (4.53%) had CHD and associated malformations. The malformations of digestive (35.7%), urinary (22.4%), and nervous (14.3%) systems were the most frequently observed associated defects. No relation was found between CHD and concomitant lesions. The results of multivariate logistic regression showed significant influence of patient age, primary cardiac procedure, and CHD type on mortality (ca 19%) in children with multiorgan lesions. CONCLUSIONS: The treatment of children with CHD and associated multiple lesions is connected with higher mortality risk. The following factors: younger age, urgency of surgical procedure, and primary surgical procedure had negative impact on patient's outcome. However, these risks in certain cases are inevitable. The cardiac procedure preceding the surgical operation may improve the overall effect of treatment because of circulatory stabilization, provided that the condition of the patient does not preclude any intervention at all.

[Lymphangioma--prenatal and perinatal aspects--Part one]. / Naczyniak limfatyczny--aspekty prenatalne i perinatalne--czesc pierwsza.

Lymphangioma or cystic hygroma is a congenital malformation of the lymphatic system which has been commonly associated with fetal aneuploidy, hydrops, structural malformations and intrauterine death. In this paper we would like to report two cases of lymphangioma diagnosed prenatally in the third trimester in the fetuses with normal karyotype, normal NT in the first trimester and without other structural anomalies and with good perinatal outcome.

[Lymphangioma--the care and treatment in neonates and babies--Part two]. / Naczyniak limfatyczny--postepowanie i leczenie u noworodków i niemowlat--czesc druga.

Lymphangioma or cystic hygroma (CH) in neonates is a rare congenital malformation (1:12000 live births), its etiology is unknown. It often occurs in head and neck region. Initial diagnosis based on physical examination is next to be confirmed by MR and CT imaging. The authors presented with diagnosis and treatment of two babies with congenital cystic hygromas of face, neck and thorax. Although in cystic hygroma the surgery still remains as the treatment of choice, the OK-432 sclerotherapy seems to be very promising in huge CH lesions.

[Congenital diaphragmatic hernia--diagnostic and therapeutic procedures]. / Przepuklina przeponowa u plodu--mozliwosci diagnostyczne i terapeutyczne.

Congenital diaphragmatic hernia (CDH) is connected with a high risk of neonatal mortality and morbidity, which are caused mostly by lung hypoplasia. Frequency of these congenital malformations is 1: 2000-3000 live birth. CDH can be isolated, but in as many as 23% of cases, it co-exists with other fetal anomalies. Moreover, in 12% of cases it may be connected with genetically determined syndromes. Ultrasonographic diagnostics, especially in isolated CDH cases, is very difficult so that pregnant women must very often be admitted to perinatal 3rd references center. The first symptom to suggest CDH is polyhydramnios appearing between the 2nd and 3rd trimester of pregnancy. Appropriate prenatal diagnosis, delivery at a specialized perinatal center, and well-prepared neonatal, anaesthesiological and surgical teams significantly improve the survival rate and increase the likelihood of the proper development of newborn infants. The aim of this paper is the presentation of the case of a newborn diagnosed with intrauterine CDH who, upon delivery at 34th week of gestation, was admitted to the Department of Child Surgery, and after surgical procedures, was discharged in a healthy condition.

[Clinical investigations of children with chronic renal failure and peritonitis treated with peritoneal dialysis]. / Obserwacje kliniczne dzieci i mlodziezy z zapaleniem otrzewnej w przebiegu leczenia przewleklej niewydolnosci nerek ciagla dializa otrzewnowa.

UNLABELLED: Peritonitis and catheter-related infection are the most-common complications of peritoneal dialysis treatment. The aim of study was to analyse frequency causes, effectiveness of therapy and risk factors of peritonitis in patients treated with continuous peritoneal dialysis (CAPD). We described 13 patients aged 6-21 years, mean 12 years, who initiated CAPD between 1995 to 2000. The most-common primary cause of end-stage renal disease were chronic glomerulonephritis in 8 children, renal dysplasia in 3 children, hemolytic-uremic syndrome in 1 child and obstruction uropathy in 1 child. Peritonitis rate was 1 episode for 9 patient months. Staphylococcus aureus was the most-common infection factor. We performed exchange of catheter in 8 children. Causes of exchange were exit site infection, cuff excision, tunnel infection and peritonitis. Children were usually treated with two antibiotics for two weeks. Effect of treatment was better in these episodes treated longer than two weeks. As a risk factors of increasing peritonitis relapses we suggest immunosuppressive therapy, protein deficiency, catheter dislocation, not adequate education of patient family and chronic skin infections. We observed lower rate of peritonitis relapses in patients treated longer than two years on CAPD. CONCLUSIONS: 1. In patients with chronic renal failure treated with CAPD the preceding immunosupressive therapy increases the frequency of peritonitis. 2. More intensive treatment can cause decreasing frequency of peritonitis relapses. 3. Some risk factors increase the frequency of peritonitis relapses. 4. A better education of patient and his family decreases the frequency of peritonitis relapses.