CHRND variant in a paternally inherited esophageal atresia and tracheoesophgageal fistula: Report of a case.

BACKGROUND: The familial occurrence of esophageal atresia and tracheoesophageal fistula (EA-TEF) is very rare and the genetic basis behind the isolated familial cases have not been identified. A male infant born with EA-TEF and his affected father were evaluated with whole genome sequence to define a genetic causative variation in paternally inherited EA-TEF. CASE REPORT: A male infant was born to 29-years-old, gravida 1, para 1 women by normal vaginal delivery. The patient was diagnosed as Type-C EA-TEF. In his family history, his father was also operated for EA-TEF during neonatal period. He had no associated anomaly despite patent foramen ovale. Genomic DNAs were extracted from peripheral blood of the patient and the father. When causative genes responsible for EA-TEF were filtered out, four different variants in NOTCH2, SAMD9, SUPT20H and CHRND were found. Except the variant found in CHRND (NM_000751.2, c.381C>G, p.(Tyr127Ter)), other three variants were not found to be segregated with the father who has EA-TEF also. This nonsense variant was not found in GnomAD database. CONCLUSION: CHRND variant found in both EA-TEF patient and his affected father suggest that CHRND variant might possibly be considered as one of the causative genetic variants in familial isolated EA-TEF patients.

The Role of Bolus Residue and Its Relation with Respiratory Problems in Children with Esophageal Atresia.

Bolus residue is significant risk factor for postswallow aspiration. A retrospective study was performed to evaluate the role of bolus residue and its relation with respiratory problems in children with esophageal atresia. Children were evaluated for demographic features, type of esophageal atresia, associated anomalies, and respiratory problems. The videofluoroscopic swallowing evaluation (VFSE) was performed, and scored by using the penetration aspiration scale (PAS), bolus residual score (BRS) and normalized residual ratio scale (NRRS). Children with and without respiratory problems were also compared in terms of aspiration and bolus residue. Forty-one children with a median age of 15 months (1-138 months), male:female ratio of 26:15 was included. 65.9% (n = 27) of children were type-C and 24.4% (n = 10) were type-A EA. In 61% (n = 25) of children had liquid aspiration (PAS ≥ 6) and 9.8% (n = 4) had aspiration in pudding consistencies. Children with aspiration in liquids had significantly higher NRRS and BRS scores in vallecular residue for pudding consistencies when compared to children without aspiration (p < 0.05). No difference was detected in terms of PAS scores and bolus residual parameters between children with and without respiratory problems (p > 0.05). Children with aspiration in liquids have higher scores of BRS and NRRS at the level of vallecular especially in pudding consistencies. VFSE findings for bolus residue did not show significant relation with respiratory problems. Respiratory morbidity in children with EA is multifactorial and may not only explained by bolus residuals and aspiration.

Endoscopic treatment of periampullary duodenal duplication cyts in an 18-month-old girl.

BACKGROUND: Duodenal duplication cysts (DDC) are rare congenital anomalies of the gastrointestinal tract and periampullary localization with anatomical variants including biliary and pancreatic duct anomalies remains a surgical challenge. Endoscopic treatment of the periampullary DDC (PDDC) communicating with the pancreaticobiliary duct in an 18-month-old girl is presented to discuss the endoscopic treatment options in children. CASE: An 18-month-old girl with a normal prenatal ultrasound (US) was asymptomatic until complaining of abdominal pain and vomiting at 10-months of age. Abdominal US revealed a 1.8 × 2 cm cystic mass adjacent to the second part of the duodenum. The amylase and lipase levels were slightly increased while she was symptomatic. Magnetic resonance cholangiopancreaticography (MRCP) showed a thick cyst wall measuring 1.5 × 2 cm at the second part of the duodenum, consistent with DDC that was suspected to be communicating with the common bile duct. Upper gastrointestinal endoscopy confirmed a bulging cyst in the duodenum lumen. The puncture and injection of the cyst with contrast material confirmed the communication of the duplication cyst with the common bile duct. The unroofing of the cyst was performed with endoscopic cautery. The biopsy obtained from the cystic mucosa revealed normal intestinal histology. Oral feeding was initiated six hours after the endoscopy. The patient has been followed for the last 8 months uneventfully. CONCLUSIONS: Endoscopic treatment of PDDC with various anatomical variants can be considered an alternative to surgical excision in children.

The Effect of COVID-19 Pandemic on Foreign Body Aspiration.

BACKGROUND: This article evaluates the effect of coronavirus disease 2019 (COVID-19) pandemic on clinical course and management of cases that underwent bronchoscopy for suspected foreign body aspiration (FBA) in children. METHODS: The patients who underwent bronchoscopy with a presumptive diagnosis of FBA between July 2018 and December 2021 were evaluated for demographic features, clinical findings, management details, and outcomes. Patients were divided in two groups: before pandemic (group A) and during pandemic (group B). RESULTS: In total 79 cases with a median age of 5 years (4-5) in group A (n = 47) and 3 years (2-3) in group B (n = 32) were included (p < 0.05). The witnessed aspiration was significantly higher in group B (90.6%) when compared to group A (53%) (p < 0.05). Admission time was less than 48 hours in 30 cases (64%) in group A and 23 cases (72%) in group B (p = 0.002). The intervention time was less than 24 hours in 30 cases (64%) in group A, 9 cases (28%) in group B (p = 0.002). Bronchoscopy was performed after COVID-19 polymerase chain reaction (PCR) testing in all cases in group B. The positive FBA rate was 38% (n = 18) in group A, and 59% (n = 19) in group B (p = 0.067). CONCLUSION: During pandemics, bronchoscopy for FBA was performed in younger infants than before pandemic and witnessed aspiration was significantly more common in that period. The differences in age groups and symptoms may be explained by spending more time at home during pandemics. Waiting for the PCR test results causes delays in the intervention. However, this delay did not cause any respiratory distress.

The Role of Oral Feeding Time and Sham Feeding on Oropharyngeal Swallowing Functions in Children with Esophageal Atresia.

A retrospective study was performed to evaluate the role of oral feeding (OF) time and sham feeding (SF) on oral-pharyngeal swallowing functions in children with esophageal atresia (EA). Patients with EA were evaluated for age, sex, and types of atresia, time to start OF and surgical complications. Three to six weeks after full OF, videofluoroscopic swallowing evaluation (VFSE) was performed, and Penetration Aspiration Score (PAS, no aspiration = 1, penetration = 2-5, aspiration = 6-8), delay in swallowing reflex and residue after liquid and pudding consistency were noted. Patients were divided into three groups according to repair time; early primary repair (EPR, < 1 month of age), delayed primary repair (DPR, ≥ 1 month of age) and colonic interposition (CI). VFSE findings were compared between groups. In CI group, patients without aspiration in VFSE were encouraged to sham SF before CI. Patients with and without SF in CI group were also compared for oro-pharyngeal dysphagia (OPD). PAS scores were significantly higher in DPR (n = 13) group when compared to CI group (n = 12) in liquid swallowing (p = 0.032) and higher than EPR (n = 30) in pudding consistency (p = 0.03). Patients with CI showed significant OPD when compared to EPR (p = 0.017). Swallowing reflex delay was similar in both groups (p > 0.05). DPR group had significantly higher liquid residue at the level of vallecula (p = 0.028). The residue at other levels (oral, tongue base, pharyngeal wall and pyriform sinus) were similar in all groups in both liquid and pudding consistencies. There was no significant difference between sham-fed (n = 6) and not sham-fed (n = 6) infants in VFSE of OPD (p > 0.05). Patients with DPR without SF had significantly higher incidence of OPD and PAS scores when compared to EPR and CI. Although CI groups has the latest OF time, SF may improve oral motor abilities and cause better OF swallowing functions than patients with delayed repair.

Oxidative and histopathological effects of the application of electrosurgical devices to the penile tissue of rats.

INTRODUCTION: This study was performed to evaluate the oxidative and histopathological changes that occur following the application of electrosurgical devices (monopolar or bipolar cautery) to penile tissue. MATERIAL AND METHODS: Eighteen Wistar albino male rats were randomly distributed into three groups. In the control group (CG, n = 6), all penile tissues were sampled without any additional process following the administration of anesthesia. In the monopolar cautery group (MPG, n = 6), a 15-W cauterization process lasting 5 s was performed on an approximately 2 mm2 area of the ventral side of the penile shaft, 0.5 cm proximal to the edge of the glans in the midline. Bipolar cautery was practiced in the third group (BPG, n = 6) using the same techniques outlined in the previous statement. Penile tissues consisted of the cautery application area, the edge of the glans, and dorsal side of the penis and were sampled after 90 min; then, histopathological evaluation and biochemical examination involving malondialdehyde (MDA), nitric oxide (NO), and superoxide dismutase (SOD) measurements were performed. RESULTS AND DISCUSSION: Histopathologically, the MPG and BPG demonstrated increased inflammation, fibrosis, and epithelial loss in the urethra in the areas to which cautery was applied as compared to the CG (P < 0.05). The vascular structures of the corpus cavernosa were significantly decreased in the cautery application area of both the MPG and the BPG as compared to the CG (P < 0.05). In the Masson's trichrome stained samples, significant collagen deposition was observed in the cautery application area both in the MPG and the BPG as compared to the CG (P < 0.05). However, S-100 staining was decreased in these groups as compared to the CG (P < 0.05). S-100 staining was also decreased in the MPG as compared to the BPG on the edge of the glans (P < 0.05). Biochemically, MDA values were significantly increased in the MPG as compared to the CG and the BPG (P < 0.05). CONCLUSION: Monopolar and bipolar cautery both did cause oxidative changes and triggered inflammatory, vascular, and peripheral nerve alterations in the cautery application area while bipolar cautery did not cause any distant effects.

Dexmedetomidine as an Alternative Anesthetic Agent for Flap Surgery: An Intravital Evaluation in the Cremaster Muscle Flap.

INTRODUCTION: Flap surgery is one of the most commonly used techniques of reconstructive surgery for effective repair of damaged tissue. Optimal anesthetic technique and anesthetic agent plays an important role in flap perfusion. This study aimed to evaluate the effects of dexmedetomidine infusion on the microcirculation in the cremaster muscle flap by direct in vivo monitoring. MATERIALS AND METHODS: We randomly divided 9 Wistar albino rats into 3 groups. The rats in the control group underwent the surgical procedure (isolation of the cremaster muscle) alone; the rats in the experimental groups 1 and 2 received an infusion of dexmedetomidine (10 and 30 min) after the surgical procedure. RESULTS: The means of vessel diameters, number of functional capillaries, and movements of leukocytes in all groups were evaluated using intravital microscopic examination. The diameters of the arterioles and venules of the cremaster muscle significantly increased in the dexmedetomidine groups. The number of functional capillaries was higher in the dexmedetomidine groups than in the control group. No difference was observed in the movements of leukocytes between the control and experimental groups. Dexmedetomidine significantly increased the diameters of the arterioles and venules of the cremaster flap and the number of functional capillaries. CONCLUSION: On the basis of the effects of dexmedetomidine on microcirculation, we suggest that dexmedetomidine continue to be used as an anesthetic agent, and may be considered also for reconstructive procedures, particularly flap surgery.

A rare cause of acute abdominal pain in children: Isolated tubal torsion; a case series.

Isolated tubal torsion -a rare cause of acute abdomen in children-is usually difficult to diagnose because of non-specific findings. Surgical salphingectomy is required in delayed diagnosis in most cases. Three sexual inactive adolescents diagnosed in isolated tubal torsion (ITT) were discussed for its diagnostic features and surgical management. Laboratory tests and radiological studies including ultrasonography (US), color doppler ultrasound were performed in all patients after evaluation for acute lower abdominal pain in emergency department and they underwent surgical intervention with laparotomy (n:2) and laparoscopy (n:1). One of the patients in this study had salpingectomy. Detorsion of the fallopian tube and cyst excision were performed in the remaining two patients who also had paratubal cysts. There was no recurrence in these patients during the follow-up for 3 and 2 years. The isolated tubal torsion should be kept in mind and early surgical management is essential in order to preserve fallopian tube because of its importance in fertility.

Evaluation of intraabdominal hypertension and genitofemoral nerve motor conduction.

BACKGROUND/AIM: The aim of this study was to electrophysiologically evaluate the effect of increased intraabdominal pressure (IAP) on genitofemoral nerve (GFN) motor conduction. MATERIALS AND METHODS: Seven Wistar albino rats were included. After anesthetization, latency and duration of GFN conduction was recorded with a needle-probe at rest. IAP was increased to 15 mmHg by insufflating atmospheric air with a percutaneous intraperitoneal needle. At 30 min of IAP, GFN motor conduction was recorded. Abdominal pressure was then increased to 20 mmHg. At 60 min, GFN motor conduction was recorded again. The consecutive recordings of latency and duration of GFN conduction (rest, 30 min, 60 min) were evaluated statistically. RESULTS: There was a significant difference between latencies at rest (1.90 ± 0.22 ms), at 30 min (2.3 ± 0.36 ms), and at 60 min (2.74 ± 0.57 ms) (Friedman test, P = 0.001). The latency was significantly increased at 60 min compared to rest (post hoc Tukey test, P = 0.003). No similar difference was detected between the recordings at 30 and 60 min. The duration of GFN motor conduction showed no difference between consecutive recordings (P = 0.067). CONCLUSION: Both increased and prolonged IAP causes prolonged latency of GFN conduction, probably due to a compression effect on GFN. Neuropraxial consequences of increased IAP are thought to be related to the compression effect of peripheral nerves.

Pulmonary Mucoepidermoid Carcinoma and Solid Pseudopapillary Neoplasm of the Pancreas: A Coincidence of 2 Rare Tumors in an 8-Year-Old Boy.

Primary pulmonary mucoepidermoid carcinoma (MEC) is extremely rare in children and is characterized by a mucus-secreting and squamous cell combination. Solid pseudopapillary neoplasm of the pancreas is a rare tumor of the pancreas, which is mostly seen in young women. We present the case of an 8-year-old boy previously diagnosed and treated by lung lobectomy for MEC. He was admitted to our hospital with an incidentally recognized mass at the pancreas during postoperative workout studies. Distal pancreatectomy was performed. Surgery was curative for both tumors. To the best of our knowledge, this is the first reported case of pseudopapillary neoplasm concomitant with MEC in the literature.

Investigation of the effect of dorsal penile block to penile tissue.

BACKGROUND: Dorsal penile block (DPB) is a frequently used technique for regional anesthesia, but the effect of DPB on penile tissue has not been reported so far. OBJECTIVE: An experimental study was conducted to evaluate the acute effects of DPB on penile tissue. METHODS: Eighteen male rats were included and randomly assigned to three groups. No intervention was made in the control group (CG, n = 6). In the sham group (SG, n = 6) 1 ml normal saline, and in DPB group (PBG, n = 6) 1 ml of 0.25% bupivacaine without adrenaline (0.5 mg/kg), was infused with a 30 mm, 23 gauge needle. DPB was performed by inserting the needle in the midline when pulling down the penis and directing the needle to the 11 and 1 o'clock positions. Another puncture was done at the midline on the ventral side and the remaining drug was infused slowly. The penile tissues were harvested for biochemical (malonyldialdehyde: MDA; nitric oxide: NO; superoxide dismutase: SOD) and histopathological examination. Histopathological assessments were made of inflammation, edema and fibrosis; epithelial degradation in the urethra; vascular obliteration in periurethral tissue; and the peripheral nerve cells. RESULTS: Concentrations of NO and SOD were significantly decreased in the PBG compared with the CG and SG (p < 0.05). The concentration of MDA was significantly increased in the PBG compared with the CG and SG (p < 0.05) (Table). Histopathological examination revealed no significant difference between groups regarding edema, inflammation, or fibrosis (p > 0.05). In hematoxylin and eosin stain samples, vascular structures of the corpus cavernosa were slightly decreased in number in the SG and PBG compared with the CG, but that difference was not statistically significant (p > 0.05). The S-100 staining was significantly higher in the PBG and SG compared with the CG (p < 0.05), and significantly higher in the SG compared with the PBG (p < 0.05). DISCUSSION: DPB causes alteration in oxidative stress markers because of an unknown effect. Although the results revealed increased inflammatory reaction in penile tissue after DPB, they are not enough to suggest not using bupivacaine for DPB in clinical practice. CONCLUSION: Although DPB does not cause any major histopathological alteration, it results in an increase in inflammatory response in the penile tissue in the short term.

Cognitive and behavioral characteristics of children with caustic ingestion.

BACKGROUND/AIM: Children with attention-deficit/hyperactivity disorder (AD/HD) have risk taking behavior and are more prone to sustaining injury. It is aimed to evaluate the cognitive and behavioral characteristics of children with caustic ingestion. PATIENTS AND METHODS: Ninety two children with a history of nonsuicidal caustic ingestion (CI, n=46) and healthy subjects (HS, n=46) admitted to pediatric surgery department were enrolled into the study. Patients in groups were evaluated for age, sex, number of siblings and educational status of the parents. Before filling the questionnaires, the children were undergone flexible endoscopy and treated accordingly. Conners Parents Rating Scale-revised long form (CPRS-R:L), validated for Turkish Children, was used to evaluate the cognitive and behavioral characteristics of children. Parents rate their child's behavior with a four-point Likert scale. Subscales of CPRS-R:L including cognitive problems/inattention (CG/I), hyperactivity (H), attention deficit hyperactivity disorder index (AD/HD-I), Conners' Global Index-discomfort-impulsivity (CGI-DI), DSM-IV-symptom subscale-inattention (DSMIV, SS-I), DSM-IV-symptom subscale-hyperactivity-impulsivity (DSM-IV, SS-HI), DSMIV-symptom subscale-total score (DSM-IV SS-T) were used to determine the severity of the AD/HD symptom. Demographic features and cognitive/behavioral characteristics of children with caustic ingestion were compared with healthy subjects. RESULTS: The median age of the patients was 4 (2-14 years) in both CI and HS groups. Female male ratio was 13:33 in CI and 12:34 in HS. Sixty seven percent of patients were preschool children (younger than 5 years of age) in both CI and HS groups. There was no difference between groups for number of siblings (p>0.05). Parents of HS group had higher educational status than parents in CI (p<0.05). When subscale scores of CPRS-R:L compared between CI and HS groups, CI group had higher CGI-DI scores than HS (p<0.05). Children younger than five years of age had higher scores of H, emotional instability and total CG/I in CI than HS group (p<0.05). CONCLUSION: Children with caustic ingestion had impulsiveness behavior when compared to healthy children. In addition to impulsivity, hyperactivity can be also assessed as a risk factor for caustic ingestion in children younger than 5years of age. We suggest that association between AD/HD behavior and risk of sustaining injuries was also confirmed for caustic ingestion in children.

Investigation of the effects of enteral hormones on the pyloric muscle in newborn rats.

PURPOSE: To investigate the effects of enteral hormones on pyloric muscle in order to clarify the etiopathogenesis of hypertrophic pyloric stenosis (HPS). METHODS: Forty-two newborn Wistar-Albino rats were included. No intervention was done in the control group (CG, n=6). In the sham group (SG, n=6) 1ml saline (0.9% NaCl solution), in the Nw-nitro-l-arginine methyl ester hydrochloride (L-NAME) group (LNG, n=6) 100mg/kg/d L-NAME, in the somatostatin group (STG, n=6) 7mcg/kg/d ST, in the cholecystokinin group (CCKG, n=6) 3mcg/kg/d CCK, in the substance P group (SPG, n=6) 5ml/kg/d SP, and in the prostaglandin-E1 group (PGE1G, n=6) a cumulative dose of 360mcg/kg PGE1 was given intraperitoneally for 14days. On the 21st day, histopathological examination and muscle thickness measurements were done. Results were evaluated statistically. RESULTS: Total and circular pyloric muscle thicknesses were significantly increased in the LNG compared to the CG and SG (p<0.05). Circular pyloric muscle thickness was not increased in the STG, CCKG and SPG compared to the CG and SG (p>0.05). In the PGE1G, muscle thickness was significantly decreased in the pylorus and increased in the antrum compared to the CG and SG (p<0.05). CONCLUSION: Nitric oxide synthase (NOS) inhibition with L-NAME seems to be a causative factor in HPS by increasing pyloric muscle thickness. PGE predominantly affects antral gastric muscle and has no profound effect on pyloric muscle.

The effect of extracorporeal shock wave lithotripsy on distribution of interstitial cells of Cajal in rabbit renal pelvis and proximal ureter.

BACKGROUND/AIM: An experimental study was performed to evaluate the effect of extracorporeal shock wave lithotripsy (ESWL) on the distribution of interstitial cells of Cajal (ICC) in rabbit renal pelvis and proximal ureter. MATERIALS AND METHODS: Six New Zealand rabbits were included. Right kidneys were exposed to a total of 3000 shock waves (14 kV) by using an electrohydraulic-type ESWL device. Right sides were allocated as the ESWL group (EG, n = 6) and left sides as the control group (CG, n = 6). Tissues were harvested on day 7. Tissues were examined histopathologically for the presence of edema, inflammation, congestion, hemorrhage, fibrosis, and vascularization. Mast cell tryptase and CD 117 (c-kit) staining was performed for ICC distribution. RESULTS: Although increased tissue edema in renal pelvises and increased inflammation in ureters were observed in EG, no statistical difference was detected between groups (P > 0.05). In CG, positive CD117 staining was detected in 2 renal pelvises and ureters. None of the EG samples showed CD117 staining and no statistical difference was detected between groups (P > 0.05). CONCLUSION: Rabbit does not appear to be a good model for investigating ICCs. ESWL may cause histopathological alterations in the renal pelvis and ureter. Since it has not been statistically proven, reduced contractility of the ureter after ESWL may not be attributed to altered distribution of ICCs in the renal pelvis and ureter.