A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.

Skeletal ciliopathies constitute a subgroup of ciliopathies characterized by various skeletal anomalies arising from mutations in genes impacting cilia, ciliogenesis, intraflagellar transport process, or various signaling pathways. Short-rib thoracic dysplasias, previously known as Jeune asphyxiating thoracic dysplasia (ATD), stand out as the most prevalent and prototypical form of skeletal ciliopathies, often associated with semilethality. Recently, pathogenic variants in GRK2, a subfamily of mammalian G protein-coupled receptor kinases, have been identified as one of the underlying causes of Jeune ATD. In this study, we report a new patient with Jeune ATD, in whom exome sequencing revealed a novel homozygous GRK2 variant, and we review the clinical features and radiographic findings. In addition, our findings introduce Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and midgut malrotation for the first time in the context of this recently characterized GRK2-related skeletal ciliopathy.

Effect of prostaglandin-E1 treatment on pyloric wall thickness in newborns with ductal-dependent critical congenital heart diseases.

BACKGROUND: Prostaglandin E1 (PGE1) is used in the medical treatment of ductal-dependent critical congenital heart disease (CCHD) in neonates. Apnea/bradycardia, hypotension, hypokalemia, and fever are the most important side effects of PGE1. Moreover, gastric outlet obstruction has been reported in a few case reports. A prospective study was conducted to investigate the effect of PGE1 treatment on pyloric wall thickness in newborns with congenital heart diseases. METHODS: A total of 22 newborns with ductal-dependent CCHD having PGE1 infusion longer than a week were included in this study. Ultrasonographic measurements were performed before and one week after the PGE1 infusion to evaluate the pyloric thickness and length. The protocol was registered with ClinicalTrials.govidentifier NCT04496050. RESULTS: A total of 22 neonates with mean gestational age 38 ± 1.8 weeks and birth weight 3105 ± 611 gr were enrolled in the study. The median time of the second ultrasound was seven days. The median cumulative dose of PGE1 given during this period was 108 mcg/kg/min. There was a statistically significant increase in post-treatment pyloric thickness and length compared to pre-treatment measurements (p < 0.001, p < 0.001). None of the patients with increased thickness and pyloric muscle length presented any symptoms. CONCLUSION: PGE1 treatment significantly increased the pyloric thickness and length after at least one-week treatment. PGE1 with its action mechanism is likely to cause gastric outlet obstruction, although not exactly pyloric stenosis on the condition used for a long time.

Lung ultrasound findings in children with foreign body aspiration.

OBJECTIVES: Foreign body aspiration (FBA) has a wide clinical spectrum, patients may be asymptomatic or present with cardiopulmonary arrest. Radiological imaging methods are used in addition to history and physical examination findings for certain diagnosis. Lung ultrasonography (LUS), whose usage area is increasing year by year, can be included in these. This study aimed to investigate ultrasonography findings in FBA and hypothesized that LUS may have a standard place in FBA diagnosis. METHODS: Patients who administered to the pediatric emergency department between August 2019-August 2021, considered according to the clinical findings and physical examination possible FBA, and who undergone rigid bronchoscopy by pediatric surgery were included in the study. RESULTS: Thirty-two patients were included in the study. According to the results of bronchoscopy, FBA was detected in 25 patients. The most common finding in radiography was hyperinflation on one side, while LUS findings were confluent-B lines in eight patients, barcode-sign in five patients, pleural line abnormalities in two patients, and pleural consolidation in two patients. CONCLUSION: This study is the first study aiming to evaluate LUS findings in FBA to the best of our knowledge. The B-lines, barcode sign, pleural line abnormalities and consolidation are seen findings in LUS of the patients with FBA. Although it is far from replacing chest radiography in these patients, it is possible to say that it has an equivalent value with chest radiography.

The miRNA-24, miRNA-21 expressions and matrix metalloproteinase-7 level in exhaled breath condensate of children with primary spontaneous pneumothorax.

Bullous lung diseases may cause primary spontaneous pneumothorax (PSP) in children. The microRNAs (miRNAs) are non-coding RNAs that participate in regulation of inflammation and cancer. We hypothesized that children with bullous lung disease and PSP may have altered miRNA expressions in their exhaled breath condensates (EBCs). Therefore, a prospective study was performed to evaluate the miRNA-24 and 21 expression, and the matrix metalloproteinase-7 (MMP-7) levels in EBC of children with PSP. Children with PSP were evaluated for age, gender, clinical features and results of surgical treatment. EBC samples (500-1000 ml) were collected to evaluate the miRNA-21, 24 expressions, and MMP-7, and tissue-inhibitor-MMP-1 (TIMP-1) levels. miRNA expressions and MMP levels of patients were compared with healthy controls (control group (CG),n= 12). Subjects (n= 16) with a mean age of 15 years (10-19 years), and a male-to-female ratio of 14:2 were enrolled in this study. The most common presenting symptom was sudden chest pain (n= 14). In 62.5% of the cases an underlying bullous lung disease were detected. During an average of 16.6 months (1-60 months) follow up period, four subjects relapsed. The mean MMP-7 (1.74-1.57 ng ml-1), and TIMP-1 (1.92-1.84 ng ml-1) levels were similar between both groups (p> 0.05). miRNA-24 expression was significantly decreased in the PSP group, when compared to the CG (0.16-1 2-ΔΔCT,p< 0.05). In addition, the miRNA-21 expression was not different between the two groups (p> 0.05). In conclusion, the miRNA-24 levels were significantly decreased in children with PSP. Taken together, children with PSP, especially those with bullous disease, should be closely monitored in the long-term period.

Pyloroduodenal intussusception due to diffuse juvenile polyposis in a 3 year-old child: case report.

BACKGROUND: Pyloroduodenal intussusception (PDI) due to gastric and pyloric polyps is very rare and has not been reported previously in children. CASE: A 3 year-old boy was admitted with non-bilious vomiting and abdominal distention. Abdominal X-ray showed gastric air-fluid level and ultrasonography showed 5 cm intussusception at right upper quadrant. Upper gastrointestinal study showed gastric outlet obstruction. Multiple polyps at stomach and pylorus were detected in endoscopy. The explorative laparotomy revealed polyps originating from pylorus passing to duodenum and causing PDI. The polyps were excised to reduce the intussusception via duodenotomy. CONCLUSION: PDI and pyloric polyps should be kept in mind in cases with radiological examinations revealing gastric outlet obstruction.

The relationship between oxidative stress markers in exhaled breath condensate and respiratory problems in patients with repaired esophageal atresia.

AIM: To evaluate the relationship between respiratory problems and oxidative stress markers in exhaled breath condensate (EBC) of patients with esophageal atresia (EA). METHODS: EA cases with respiratory problems were evaluated retrospectively for age, gender, the type of atresia, surgical treatment, outcome and respiratory symptoms. The results of gastroesophageal reflux (GER) treatment including the use of proton pump inhibitor (PPI) and fundoplication were also documented. EBC samples of 500-1000 µl were obtained by Ecoscreen machine in all cases. The levels of Glutathione (Glut), 8-isoprostane (8-iso), cysteinyl-leukotriene (Cys-LT) were measured with ELISA. Results were compared with healthy control subjects (CG, n = 26) and the relationship between oxidative stress markers and respiratory symptoms was evaluated. The results of GER treatment and oxidative stress markers in EBC were also correlated. RESULTS: Twenty-nine patients with a mean age of 8.8 years (3-14 years) were included. The male/female ratio was 16:13. The EA presented with distal fistula in 27 cases. While no fistula was observed in 1 case, both proximal and distal fistulae were present in another single case. Associated anomalies, most of which were cardiovascular anomalies, were observed in 65.5% (n = 19) of cases. The median Glut level was 1.03 mM/ml (0.93-1.15), iso-8 was 38.8 pg/mL (32.03-76.2) and Cys-LT was 0.44 pg/mL (20.17-61.3) in patients with EA. The median levels of oxidative markers in CG were 1.23 mM/mL (1.13-1.36), 66.3 pg/mL (33.5-106.7), and 56.9 pg/mL (27.4-80.1), respectively. Glut levels were significantly lower in EA cases compared to CG (p = 0.01). There was no significant difference between the groups regarding 8-iso and CYS-LT levels (p = 0.9, p = 1.0). Cys-LT levels were significantly lower in patients with PPI treatment [21.7 pg/mL (18.6-48.1)], when compared to patients without PPI treatment [41.1 pg/mL (22.5-83.1)] (p = 0.04) and healthy subjects [56.9 pg/mL (27.4-80.1)] (p = 0.017). The 8-iso levels were significantly decreased in cases with fundoplication compared to the patients without fundoplication (p = 0.02). CONCLUSION: Glut - an antioxidant agent - levels were significantly lower in EBC of EA cases. The decrease in Cys-LT levels in cases with PPI treatment and in 8-iso levels in patients with fundoplication suggests that the oxidative damage in EBC of EA cases may be correlated with GER and its management. TYPE OF STUDY: Case control study LEVEL OF EVIDENCE: Level III.

Bilateral Pulmonary Langerhans's Cell Histiocytosis is Surgical Challenge in Children: A Case Report.

Background Pulmonary Langerhans's cell histiocytosis (PLCH) is a rare cause of interstitial lung disease in children and more than half of the cases are bilateral. Persistent respiratory distress due to spontaneous pneumothorax (SP) in bilateral PLCH may refractory to conservative treatment and posed a great challenge to surgical modalities. A 3-year-old boy with SP due to bilateral PLCH is presented to discuss the surgical options of recurrent and refractory PLCH cases in children. Case Report The patient was admitted to the emergency department with severe respiratory distress and SP. After chest tube insertion, biopsy from neck mass revealed Langerhans's cell histiocytosis. Chemotherapy including vinblastine and prednisone was initiated. Due to persistent respiratory difficulty and air leaks, talc pleurodesis and thoracoscopic bullae excision with pleural decortication were performed. Two months after the admission, due to nosocomial infection and severe respiratory distress, extracorporeal membranous oxygenation (ECMO) support was initiated. The patient was died of ECMO complications on 24th day of ECMO. Conclusion Despite the use of chemotherapy and surgical excision of cystic lesions, bilateral PLCH in children may have lethal outcome. Other treatment options including respiratory support with ECMO and lung transplantation should be considered as last resort of treatment alternative in persistent cases.