Investigation of VGLL3 and sub-target genes in the aetiology of paediatric acute appendicitis: a prospective case-control study.

PURPOSE: Vestigial like family member 3 (VGLL3) and its sub-target genes show considerable transcriptomic overlap in terms of several autoimmune and inflammatory diseases. Herein, we investigated the role of VGLL3 rs13074432 polymorphism and its sub-target genes in the aetiology of acute appendicitis (AA). METHODS: In this prospective case-control study, we included 250 patients (age, 0-18 years) who underwent appendectomy with the diagnosis of AA (patient group; blood and appendix tissue samples) and 200 healthy children (control group; only blood samples) without appendectomy. ELISA method was used for protein-level detection of VGLL3 and sub-target genes expression change in obtained tissue samples, and real-time quantitative reverse transcription polymerase chain reaction (qRT-PCR) was used for mRNA level detection. Genotyping analyses were performed on DNA samples isolated from blood using TaqMan SNP genotyping test. RESULTS: The frequency of TT variant genotype (p < 0.001) and T allele (p = 0.002) showed a significant decrease in the patient group compared with the control group. No significant correlation was observed between the expression of VGLL3 in the appendiceal tissue and patient clinical and demographic data (p > 0.050). CONCLUSION: This study revealed that the VGLL3 gene and its sub-target genes are associated with AA aetiology.

A new biomarker (RENALASE) for the diagnosis of blunt renal trauma in an experimental study.

INTRODUCTION: Kidneys are the most frequently injured organ in the genitourinary system, but there is no specific biological marker for this trauma. Renalase may be a descriptive biomarker of the pathology that causes renal ischemia, nephrotoxicity, and acute renal failure. OBJECTIVE: This study investigated the role of serum and urine levels of renalase for the diagnosis of renal injury in rats with experimentally induced blunt renal trauma. STUDY DESIGN: Thirty 3-month-old Sprague-Dawley adult male rats were divided into five groups (n = 6) as follows: control (Group 1), sham (Group 2), right nephrectomy (Group 3), left renal trauma (Group 4), and right nephrectomy plus left renal trauma (Group 5). Serum samples were acquired 3, 24 and 48 h post-trauma, and urine samples were acquired between 0-24 and 24-48 h post-trauma. Changes in serum and urine levels of renalase, dopamine, epinephrine, metanephrine, normetanephrine, urea, and creatinine were assessed after blunt renal trauma. RESULTS: No significant changes in serum levels of these compounds were observed at 3 h post-trauma in Groups 1 and 2 or in urine collected sequentially at 0-24 and 24-48 h. By contrast, levels of renalase, dopamine, metanephrine, and normetanephrine in serum increased during hour 3 in Groups 4 and 5. Moreover, increases in urine levels of renalase, dopamine, epinephrine, metanephrine, and normetanephrine were observed at hours 0-24 in Groups 4 and 5. DISCUSSION: A definitive diagnosis of traumatic renal injury in children is made with contrast-enhanced computed tomography. However, the scan results in high doses of radiation exposure to children. Here, we report for the first time that renalase levels may be useful as a biomarker for the diagnosis of renal injury due to blunt renal trauma. CONCLUSION: Renalase may be a simple, effective, and noninvasive biomarker that indicates traumatic renal injury. It could be used as an adjunct for evaluation, particularly for isolated traumatic renal injury in cases where access to computed tomography is not straightforward.

The role of sonic hedgehog homologue signal pathway in hypospadias aetiology.

INTRODUCTION: Hypospadias is one of the most common congenital anomalies of the male genitalia. Sonic hedgehog homologue (SHH) signalling pathway is believed to be involved in the development of the male genital system. OBJECTIVE: In this clinical prospective study, the role of the SHH pathway in hypospadias aetiology was investigated. STUDY DESIGN: In this study, 200 healthy children (boys without hypospadias, control group), 118 patients (boys with distal hypospadias) and 82 patients (boys with proximal hypospadias) of age 0-16 years were included. The expression of the genes suppressor of fused protein (SUFU), SHH, protein patched homologue (PTCH; PTCH1 and PTCH2), glioma-associated oncogene homologue (GLI; GLI1, GLI2, GLI3 and GLI4), smoothened, frizzled-class receptor (SMO) and serine/threonine-protein kinase 36 (STK36) that are involved in SHH pathway were investigated. Furthermore, polymorphism analyses of GLI2, SHH and PTCH1 genes were performed. The history of hypospadias in the first and second-degree relatives of the patients in boys with distal hypospadias and boys with proximal hypospadias was inquired. RESULTS: Ten patients in the boys with distal hypospadias and twenty patients in the boys with proximal hypospadias had a history of hypospadias in first or second-degree relatives (p < 0.05). There was a significant decrease in mRNA expressions of SHH and PTCH1 genes in boys with proximal hypospadias compared to boys without hypospadias (p < 0.05). Besides, a significant decrease in mRNA fold-change of GLI2 gene was detected in boys with both distal hypospadias and proximal hypospadias compared to boys without hypospadias (p < 0.05). In contrast, there was no significant difference in the mRNA fold-changes of PTCH2, SUFU, GLI1, GLI3, GLI4, SMO and STK36 genes among the groups. Moreover, there were no significant differences in the frequencies of variant genotypes and alleles rs735557, rs12711538 and rs4848632 (GLI2 gene), rs104894049 (SHH gene) and rs41313327 (PTCH1 gene) (p > 0.05). DISCUSSION: SHH expression is required for the growth and differentiation of the genital bulge. Developmental defects in the external genital organs were demonstrated in mice with SHH deletion. It has been demonstrated that SHH mainly plays a role in the formation of sinusoid morphology of the penis. In the present study, although SHH and PTCH gene expressions were found to be decreased only in the penile tissues of proximal hypospadias, GLI2 gene expression was decreased in penile tissues of boys with both distal hypospadias and boys with proximal hypospadias. CONCLUSION: Genes involved in the SHH pathway might play a role in the aetiology of hypospadias. Furthermore, there is a correlation between molecular defects in this pathway and severity of hypospadias.

A rare cause of inguinal abscess: perforated appendicitis due to foreign body in Amyand`s hernia.

BACKGROUND: Amyand`s hernia is rarely noted in children, and appendicitis caused by a foreign body in Amyand`s hernia is even rarer. CASE: A 2-year-old girl presented with recurrent conglomerate lymph node enlargements and an abscess in the right groin existing for one year despite medical treatment. Direct radiography revealed a foreign body in the right inguinal region. Computed tomography showed a foreign body and soft tissue inflammation in the inguinal canal. Laparotomy was performed, and Amyand`s hernia was diagnosed. A foreign body was found in the lumen of the appendix vermiformis causing perforated appendicitis. This case is presented because of its rarity and unusual clinical presentation. CONCLUSION: Amyand`s hernia should be considered in paediatric cases with the history of recurrent inguinal abscesses.

A study of the utility of novel non-invasive urinary and serum biomarkers of blunt kidney injury in a rat model: NGAL, KIM-1, and IL-18.

This study investigated changes in the concentrations of serum and urine neutrophil gelatinase lipocalin (NGAL), kidney injury molecule 1 (KIM-1), interleukin 18 (IL-18), and cystatin-C (Cys-C) induced by parenchymal and tubular damage following blunt kidney trauma, as well as their potential utility as biomarkers in the detection and follow-up of patients with suspected blunt renal trauma. Three-month-old male Sprague-Dawley rats (n = 18) were divided into three groups (n = 6 in each): group 1: control group (no intervention); group 2: sham group (explorative surgery and exposure of the left kidneys); and group 3: trauma group (explorative surgery and induction of blunt renal trauma of the left kidneys). Serum and urine samples were collected before and 12-24, 36-48, and 60-72 hours later for NGAL, KIM-1, IL-18, and Cys-C measurements. In the trauma group, there was a statistically significant increase in post-operative NGAL, KIM-1, and IL-18 values after 12-24 h and 36-48 h, as compared with pre-operative values. There was also a statistically significant increase in post-operative serum and urine Cys-C values after 60-72 h, as compared with pre-operative values. NGAL, KIM-1, and IL-18 may represent novel non-invasive descriptive candidate biomarkers of early-stage tubular damage in children with renal trauma.

Primary Urachal Hydatid Cyst in a Child: A Case Report.

The hydatid cyst (HC) is an endemic parasitic disease worldwide. Although the HC can locate in every part of a body, it rarely occurs over the abdominal wall. A 12-year-old female patient was brought to Department of Pediatric Surgery, Firat University School of Medicine, Elazig, Turkey in 2017. She had been suffering from abdominal pain for one week. A lump was determined underneath her skin in the suprapubic region. It was swollen, tense and movable. A cystic mass filling the midline was found in the radiological bladder superior. It was an anechoic cyst causing ondulation on the muscles of the anterior abdominal wall. The sizes of the mass were measured approximately as 9×7 cm (mesentery cyst?). The cystic mass was occurred in the urachal area of the anterior abdominal wall, not in the abdomen. After the cyst was emptied with applying mini median incision below the umbilicus, we saw the germinative membrane inside the cyst. Diagnosis of the HC was confirmed with the pathologic evaluation. For the differential diagnosis of a pure cystic mass, which can locate in every part of a body, diagnosis of the HC should be considered.

Littre hernia in children: A clinical aspect.

BACKGROUND/AIMS: Littre hernia (LH) is difficult to distinguish from other hernias until complications arise. In this research, we present the details of diagnosis, treatment, and frequency of LH cases with differentiated clinical properties. MATERIALS AND METHODS: Littre hernia prevalence, clinical properties, and treatment details of cases diagnosed as incarceration/strangulation (I/S) of hernias between December 1996 and December 2017 were retrospectively investigated. RESULTS: Incarceration/strangulation was detected in 403 out of 3758 hernias within 21 years. Four cases were detected as LH (0.09%) in 403 I/S patients. Partly reduced 2 cases were treated by resection/anastomosis with the abdominal approach. CONCLUSION: The possibility of LH in strangulated or partly reduced hernias should be considered. The abdominal approach may be necessary in nonreducible hernia with possible LH patients.

Effects of Carnosine and Vitamin E on Nucleobindin 2 (NUCB2)/nesfatin-1, Ghrelin, Adropin, and Irisin in Experimentally Induced Ovarian Torsion.

INTRODUCTION: Delay in the diagnosis of ovarian torsion leads to serious histopathological changes and many problems, including infertility. Various agents have been investigated to minimize detorsion-associated potential injury. This study was performed to study the effects of carnosine and vitamin E on tissue and serum expression of Nucleobindin 2 (NUCB2)/nesfatin-1, ghrelin, adropin, and irisin to determine whether they have protective effects in cases of ovarian torsion. MATERIAL AND METHOD: Seventy-eight rats were allocated evenly into 13 groups. All rats, excluding those in the control and sham groups and Groups (G) III, IV, and V, were subjected to ovarian torsion for 12 hours. The groups were designated as follows: G-I (control), G-II (sham), G-III (vitamin E), G-IV (carnosine), G-V (carnosine + vitamin E), G-VI (torsion), G-VII (torsion + detorsion), G-VIII (torsion + vitamin E), G-IX (torsion + carnosine), G-X (torsion + carnosine + vitamin E), G-XI (torsion + detorsion + vitamin E), G-XII (torsion + detorsion + carnosine), and G-XIII (torsion + detorsion + carnosine + vitamin E). Serum levels of NUCB2/nesfatin-1, ghrelin, adropin, and irisin were measured by ELISA. Immunohistochemical methods were used to measure the expression of these hormones in ovarian tissue. RESULTS: The levels of NUCB2/nesfatin-1 immunoreactivity were increased in G-VII, G-XI, and G-XII (p<0.05). The immunoreactivity of ghrelin was significantly decreased in G-VI, G-IX, G-XI, and G-XII. However, adropin immunoreactivity did not differ significantly between the groups (p>0.05). The level of irisin immunoreactivity was decreased in G-VI, G-VII, and G-VIII (p<0.05). The serum levels of NUCB2/nesfatin-1, ghrelin, adropin, and irisin paralleled the tissue immunohistochemical results. CONCLUSION: Carnosine and vitamin E protected the ovaries from ischemia-reperfusion injury in ovarian torsion. These antioxidants, especially carnosine, may be useful for the treatment of ovarian torsion.

Does microbial resistance profile change in community-based intra-abdominal infections? Evaluation of the culture results of patients with appendicitis.

Tartar T, Sagmak-Tartar A, Saraç M, Bakal Ü, Akbulut A, Kazez A. Does microbial resistance profile change in community-based intra-abdominal infections? Evaluation of the culture results of patients with appendicitis. Turk J Pediatr 2018; 60: 520-526. Most common origin of intra-abdominal infections in children is appendicitis. Microorganisms responsible for community-based and hospital-acquired intra-abdominal infections vary. The aim of this study was to evaluate microbial culture outcomes and antibiotic susceptibilities of these microorganisms in samples obtained intraoperatively from pediatric patients with appendicitis, and to define the infectious microorganisms responsible for the community-based intra-abdominal infections in our region, and their antibiotic susceptibilities. This study included 231 patients between 0 and 16 years of age, operated on due to appendicitis between 2014 and 2017. Appendicular tissues were sampled intraoperatively. Antibiogram was studied in case of reproduction in tissue culture. Forms included information on the age and gender of the patients, intra-abdominal event, bacterial growth in microbial culture and antibiogram, antibiotic switch during follow-up, duration of the treatment, complications and outcomes were recorded. No microbial growth was observed following inoculation of the samples obtained from appendiceal tissue of 24.7% patients, whereas growth was positive in 75.3%. Gram negative bacteria were isolated in 94.3% of the patients, whereas gram positive bacteria was isolated in 5.7%. Polymicrobial growth was observed in 2.2% of the patients. E. coli in 79.9%, P. aeruginosa in 5.2%, Enterobacter cloacae in 3.4%, Coagulase-negative staphylococci in 3.4%, Klebsiella spp. in 1.7%, Citrobacter spp. in 1.7%, Enterococcus spp. in 1.7%, Comamonas testosteroni in 1.2% of patients produced. ESBL positivity is present in 51 (36.7%) of 139 E. coli strains reproducing in appendiceal tissue culture. ESBL was positivity detected in one of the reproduced 3 Klebsiella spp. strains. In E. coli, ciprofloxacin resistance as 20.86%, ampicillin-sulbactam resistance as 83.45%, and co-trimoxazole resistance as 41% were found. Our study clearly demonstrates that the resistance profile varies in community-based intra-abdominal infections. Empirical treatment protocols should be revised in especially the patients admitted with septic presentation and where the source control is not possible.

Bochdalek hernias in children with late presentation.

AIM: Bochdalek hernias, which brought after the neonatal period, are also late-defined cases. In this study, we aimed to present the clinical characteristics of patients with late-presentation Bochdalek hernias who underwent surgery in a reference hospital and our experience regarding their diagnosis. MATERIAL AND METHODS: Patients with late-presentation Bochdalek hernia who underwent surgery in our clinic between 2001 and 2016 were analyzed retrospectively in terms of the causes of the delay in diagnosis, symptoms, and radiologic and surgical results. RESULTS: A total of seven patients with late-presentation Bochdalek hernia underwent surgery, four males and three females. The median age was 48 months. Of the 43 patients who underwent surgery for Bochdalek hernia during the same period, 7 (16.27%) presented to hospital late. In all late-presentation Bochdalek hernia cases, the defect was on the left side. Two patients had hernia sacs, and two patients had ectopic intrathoracic left kidneys. Six of the patients presented with gastrointestinal system symptoms, and one with respiratory system symptoms. The median time between the onset of symptoms and diagnosis was 60 days. The maternal age of four patients was ≥30 years. The gestational age and birth weights of the patients were normal. In physical examination, there was a scaphoid abdomen and an increased chest anterior-posterior diameter. In chest radiographs of all patients, the appearance was consistent with intestinal gas in the left hemithorax. The transverse length of the defect in the diaphragm (median value: 5 cm) in the patients with late-presentation Bochdalek hernia was longer than that (median value: 3 cm) of patients who were diagnosed early (p=0.02). The difference was statistically significant. All patients survived, were followed up for an average of 3 years, and no relapse was observed during the follow-up period. CONCLUSION: Bochdalek hernia can be diagnosed after the neonatal period. Contrary to cases diagnosed in the neonatal period, gastrointestinal system symptoms are at the forefront in these cases, and these patients have good prognosis. Congenital diaphragmatic hernia should be considered in the differential diagnosis in patients with gastrointestinal system symptoms such as recurrent nausea and vomiting.

Neonatal Gastrointestinal Perforations: the 10-Year Experience of a Reference Hospital.

The aim of this study was to present our experiences with, as well as the factors that affect, the treatment and outcome of patients with neonatal gastrointestinal perforations (GIPs). Thirty-eight newborn cases that were operated on for GIP in our hospital's tertiary newborn intensive care unit between January 2005 and December 2015 were retrospectively evaluated. The patients were divided into the two following groups: group 1, perforations related to necrotizing enterocolitis (NEC), and group 2, non-NEC perforations. In total, 38 patients (16 males, 22 females) participated in this study. The perforations were related to NEC in 12 patients (group 1; 31.6 %), and the other 26 patients (group 2; 68.4 %) were classified as non-NEC perforation cases. The incidence of neonatal GIP was 0.53 % in all newborn patients, while the incidence of perforation in NEC cases was 20 %. Of all patients, 25 (65.7 %) were premature. Non-NEC pathologies were the most common cause of GIP (68.4 %) and included stomach perforation related to a nasogastric catheter (n = 5), volvulus (n = 4), intestinal atresia (n = 3), esophageal atresia and tracheoesophageal fistula (n = 2), cystic fibrosis (n = 2), Hirschprung's disease (n = 2), appendicitis (n = 2), congenital stomach anterior wall weakness (n = 1), duplication cyst (n = 1), invagination (n = 1), incarcerated inguinal hernia (n = 1), and idiopathic causes (n = 2). Primary surgical repair was performed in all cases without a conservative approach. The mortality rate related to GIP in newborn cases was 47.3 %. While the mortality rate in group 1 was 66.6 %, it was statistically insignificantly lower in group 2 (38.4 %) (p > 0.05). In group 1, the mortality rate of those with intestinal and colorectal perforations was 45.6 and 20 %, respectively (p > 0.05). Non-NEC pathologies are the most frequent causes of GIP in newborns, and primary surgical repair is the primary treatment choice for neonatal GIP. However, GIP remains one of the most significant causes of mortality in newborns. While the prognosis for neonatal colon perforation is good, that for stomach and jejunoileal perforations is worse.

Magnesium-permeable TRPM6 polymorphisms in patients with meningomyelocele.

BACKGROUND: To evaluate whether there is an association between single nucleotide polymorphisms in magnesium-permeable TRPM6 ion channel and development of meningomyelocele (MMC). Therefore, we examined a total of 150 children with MMC, along with age- and gender-matched controls. DNA collected from whole blood was analyzed for the presence of two polymorphisms, rs2274924 (A > G; K1579E; Leu1579Glu) and rs3750425 (G > A; Val1393Ile), in TRPM6. Serum Mg2+ and calcium levels were also examined. RESULTS: A statistically significant difference in the distribution of rs2274924 genotypes (p = 0.049) was observed between the groups. Decreases in the AA genotype, and increases in the AG heterozygous genotype were also detected in the study group. The distribution of polymorphisms in the rs3750425 genotype and alleles was not statistically different between groups. Serum Mg2+ levels were lower in the GG genotype of rs3750425 compared with the GA and AA genotypes (p = 0.003). CONCLUSIONS: A statistically significant difference in rs3750425 genotypes was observed between the patients with MMC and the controls, which corresponded to lower serum Mg2+ concentrations in these patients. Taken together, these results suggest that genetic variations in the Mg2+-permeable TRPM6 ion channel may play a role in the etiopathogenesis of MMC during embryonic development.

Neutrophil gelatinase-associated lipocal in protein levels as an acute appendicitis biomarker in children.

OBJECTIVE: Appendicitis is very commonly encountered in emergency clinics. There is an urgent need for early and accurate predictive biomarkers of appendicitis in order to save lives, because currently-available biomarkers are imprecise and their delayed response impairs the ability of emergency doctors and pediatric surgeons to provide timely and potentially effective therapies. This study was performed to determine whether changes in the blood levels of neutrophil gelatinase-associated lipocalin (NGAL) can help to diagnose acute appendicitis in children and distinguish acute appendicitis from abdominal pain. METHODS: Sixty children were enrolled and divided into three groups, with 20 patients per group: Group 1 (patients with appendicitis), Group 2 (patients with abdominal pain) and Group 3 (control). Blood NGAL levels were determined by ELISA. RESULTS: The basal average serum NGAL levels were 8.2 ng/ml for Group 1, 3.9 ng/ml for Group 2, and 3.3 ng/ml for Group 3. Twenty-four and 72 h after surgery the levels were 5.1 and 2.8 ng/ml, respectively, in Group 1, 2.9 and 2.8 ng/ml in Group 2, and 2.6, 2.7 ng/ml in Group 3. Setting the cut-off point to 7 generated an area under the receiving operating curve (ROC) curve at 95 % confidence interval with 77.3 % sensitivity and 97.4 % specificity. CONCLUSION: These data indicate a significant difference in NGAL values between basal and postoperative measurements in appendicitis patients (p < 0.05). The ROC curve results showed that NGAL is a promising novel biomarker for the differential diagnosis of acute appendicitis from abdominal pain.

Recent changes in the features of hypertrophic pyloric stenosis.

BACKGROUND: Hypertrophic pyloric stenosis (HPS) is a rare cause of non-bilious vomiting in young infants; the condition requires surgical management. Diagnosis is based on clinical, laboratory, and radiological findings. In the present study, we evaluate recent changes in the features of HPS. METHOD: We retrospectively reviewed the demographic, clinical, and laboratory data on 56 HPS patients who underwent pyloromyotomy between 1996 and 2015. Patients were divided into two groups according to date of operation (group 1, 1996-2006; group 2, 2007-2015). RESULTS: Group 1 consisted of 30 patients and group 2, 26. The age at diagnosis was longer in group 2 (43.3 ± 13.1 days) than group 1 (37.4 ± 17.7 days). All diagnoses were confirmed on ultrasonography. Pyloromyotomy was performed on all 56 patients (48 boys, 8 girls). Significant between-group differences were evident in terms of age at onset of vomiting; rate of dehydration; development of palpable olive-shaped abdominal mass; serum urea and creatinine; acid-base status; and air distribution pattern on abdominal radiography (all P < 0.05). CONCLUSION: The frequency of olive-shaped abdominal mass evident on physical examination decreased significantly over time, and was lower than published values. Early diagnosis triggers timely support and surgical intervention, and may thus prevent development of the classical clinical and laboratory findings of late-stage HPS. The remarkable recent advances in ultrasonography and techniques allow HPS to be diagnosed earlier than formerly.

Cystic abdominal masses in children: a pictorial essay.

Cystic abdominal masses in children are not an infrequently encountered condition of childhood. These lesions usually present with large size and mimick each other with similar presenting symptoms. Imaging examinations have an important role to determine the type of the cystic abdominal masses, which is crucial for management of patients and presurgical planning. In this pictorial essay, we summarized the imaging features of common cystic abdominal masses of children, including cystic lesions arising from liver, biliary ducts, kidney, pancreas, bowel, ovary, mesentery, and miscellaneous tissues.

A rare mode of entry for needles observed in the abdomen of children: Penetration.

REPORT OF INCIDENTALLY DETECTED SEWING NEEDLES ON PLAIN ABDOMINAL RADIOGRAPHS IN TWO PATIENTS WITHOUT ANY PRIOR HISTORY OF INGESTION OR OF BEING PIERCED: one in the liver and the other in the peritoneum encased by omentum. These case reports point out a rare mode of entry of needles into the abdominal cavity by penetration from outside.

Congenital diaphragmatic hernia in identical twins.

Congenital diaphragmatic hernia (CDH, Bochdalek type) is rarely seen in both members of identical twins. Herein, we report a 37 weeks' twins with CDH along with a brief review of the literature. Both the neonates survived.