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Pyloric Stenosis [keywords]
- Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. [JOURNAL ARTICLE]
- BMC Med Genet 2014 Dec 4; 15(1):128.
BackgroundPoint mutations or genomic deletions of FOXF1 result in a lethal developmental lung disease Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. However, the clinical consequences of the constitutively increased dosage of FOXF1 are unknown.MethodsCopy-number variations and their parental origin were identified using a combination of array CGH, long-range PCR, DNA sequencing, and microsatellite analyses. Minisatellite sequences across different species were compared using a gready clustering algorithm and genome-wide analysis of the distribution of minisatellite sequences was performed using R statistical software.ResultsWe report four unrelated families with 16q24.1 duplications encompassing entire FOXF1. In a 4-year-old boy with speech delay and a café-au-lait macule, we identified an ~15 kb 16q24.1 duplication inherited from the reportedly healthy father, in addition to a de novo ~1.09 Mb mosaic 17q11.2 NF1 deletion. In a 13-year-old patient with autism and mood disorder, we found an ~0.3 Mb duplication harboring FOXF1 and an ~0.5 Mb 16q23.3 duplication, both inherited from the father with bipolar disorder. In a 47-year old patient with pyloric stenosis, mesenterium commune, and aplasia of the appendix, we identified an ~0.4 Mb duplication in 16q24.1 encompassing 16 genes including FOXF1. The patient transmitted the duplication to her daughter, who presented with similar symptoms. In a fourth patient with speech and motor delay, and borderline intellectual disability, we identified an ~1.7 Mb FOXF1 duplication adjacent to a large minisatellite. This duplication has a complex structure and arose de novo on the maternal chromosome, likely as a result of a DNA replication error initiated by the adjacent large tandem repeat. Using bioinformatic and array CGH analyses of the minisatellite, we found a large variation of its size in several different species and individuals, demonstrating both its evolutionarily instability and population polymorphism.ConclusionsOur data indicate that constitutional duplication of FOXF1 in humans is not associated with any pediatric lung abnormalities. We propose that patients with gut malrotation, pyloric or duodenal stenosis, and gall bladder agenesis should be tested for FOXF1 alterations. We suggest that instability of minisatellites greater than 1 kb can lead to structural variation due to DNA replication errors.
- [Bart´s syndrome associated with epidermolysis bullosa junctionalis and with pyloric atresia. An autopsy case report]. [English Abstract, Journal Article]
- Cesk Patol 2014; 50(4):155-8.
Barts syndrome, in literature also known under the name CLAS (Congenital Localised Absence of Skin), first described by Bart in 1966 as congenital localized absence of skin, epidermolysis bullosa congenita and nail abnormalities. The authors present a macroscopic and histological findings of a newborn with Barts syndrome, with epidermolysis bullosa junctionalis and atresia pylori, who died 17 days after birth and 13 days after surgery for pyloric stenosis.Key words: Bart´s syndrome - atresia pylori - epidermolysis bullosa junctionalis - CLAS.
- Infantile hypertrophic pyloric stenosis (IHPS): A study of its pathophysiology utilizing the newborn hph-1 mouse model of the disease. [Journal Article]
- Am J Physiol Gastrointest Liver Physiol 2014 Dec 15; 307(12):G1198-206.
Infantile hypertrophic pyloric stenosis (IHPS) is a common disease of unknown etiology. The tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia-1 (hph-1) newborn mouse has a similar phenotype to the human condition. For hph-1 and wild-type control animals, pyloric tissue agonist-induced contractile properties, reactive oxygen species (ROS) generation, cGMP, neuronal nitric oxide synthase (nNOS) content, and Rho-associated protein kinase 2 (ROCK-2) expression and activity were evaluated. Primary pyloric smooth muscle cells from wild-type newborn animals were utilized to evaluate the effect of BH4 deficiency. One-week-old hph-1 mice exhibited a fourfold increase (P < 0.01) in the pyloric sphincter muscle contraction magnitude but similar relaxation values when compared with wild-type animals. The pyloric tissue nNOS expression and cGMP content were decreased, whereas the rate of nNOS uncoupling increased (P < 0.01) in 1-wk-old hph-1 mice when compared with wild-type animals. These changes were associated with increased pyloric tissue ROS generation and elevated ROCK-2 expression/activity (P < 0.05). At 1-3 days of age and during adulthood, the gastric emptying rate of the hph-1 mice was not altered, and there were no genotype differences in pyloric tissue ROS generation, nNOS expression, or ROCK-2 activity. BH4 inhibition in pyloric smooth muscle cells resulted in increased ROS generation (P < 0.01) and ROCK-2 activity (P < 0.05). Oxidative stress upregulated ROCK-2 activity in pyloric tissue, but no changes were observed in newborn fundal tissue in vitro. We conclude that ROS-induced upregulation of ROCK-2 expression accounts for the increased pyloric sphincter tone and nNOS downregulation in the newborn hph-1 mice. The role of ROCK-2 activation in the pathogenesis of IHPS warrants further study.
- How should the pyloric submucosal mass coexisting with hypertrophic pyloric stenosis be treated?: a case of pyloric ectopic pancreas with hypertrophic pyloric stenosis. [Journal Article]
- Pediatr Gastroenterol Hepatol Nutr 2014 Sep; 17(3):196-200.
Co-existing pyloric submucosal masses with hypertrophic pyloric stenosis (HPS) are very rare and treating these lesions is always a problem. A 20-day-old boy presented with recurrent episodes of projectile non-bilious vomiting lasting for 5 days. HPS was suspected due to the presenting age and the symptoms. The sonography demonstrated not only circumferential wall thickening of the pylorus, but also a pyloric submucosal mass. At laparotomy, a 0.8 cm sized pyloric submucosal mass was identified along with a hypertrophied pylorus. Pyloric excision was performed due to the possibility of sustaining the symptoms and malignancy. The pathological report of the submucosal mass was ectopic pancreas. Coexisting pyloric lesions can be diagnosed along with HPS, and surgical excision, not just pyloromyotomy, should be considered in these circumstances. To the best of our knowledge, this is the first case report of pyloric ectopic pancreas and HPS to be diagnosed concurrently.
- Laparoscopic pyloromyotomy: Lessons learnt in our first 101 cases. [Journal Article]
- J Indian Assoc Pediatr Surg 2014 Oct; 19(4):213-7.
To analyze our experience with laparoscopic pyloromyotomy for infantile hypertrophic pyloric stenosis for the lessons that we learnt and to study the effect of learning curve.This is a retrospective analysis of case records of 101 infants who underwent laparoscopic pyloromyotomy over 6 years. The demographic characteristics, conversion rate, operative time, complications, time to first feed and post-operative hospital stay were noted. The above parameters were compared between our early cases (2007-2009) (n = 43) and the later cases (2010-2013) (n = 58).89 male and 12 female babies ranging in age from 12 days to 4 months (mean: 43.4 days) were operated upon during this period. The babies ranged in weight from 1.8 to 4.7 kg (mean: 3.1 kg). Four cases were converted to open (3.9%): three due to mucosal perforations and one due to technical problem. The mean operative time was 45.7 minutes (49.7 minutes in the first 3 years and 43.0 minutes in the next 3 years). There were 10 complications-4 mucosal perforations, 5 inadequate pyloromyotomies and 1 omental prolapse through a port site. All the complications were effectively handled with minimum morbidity. In the first 3 years of our experience the conversion rate was 9.3%, mucosal perforations were 6.9% and re-do rate was 2.3% as compared to 0%, 1.7% and 6.9%, respectively, in the next 3 years. Mean time for starting feeds was 21.4 hours and mean post-operative hospital stay was 2.4 days.Laparoscopic pyloromyotomy is a safe procedure with minimal morbidity and reasonable operative times. Conversion rates and operative times decrease as experience increases. Our rate of inadequate pyloromyotomy was rather high which we hope to decrease with further experience.
- [A case of unresectable Stage IV HER2-positive advanced gastric cancer treated by using trastuzumab combined with chemotherapy]. [English Abstract, Journal Article]
- Gan To Kagaku Ryoho 2014 Oct; 41(10):1316-8.
We observed a case of unresectable Stage IV human epidermal growth factor receptor 2(HER2)-positive advanced gastric cancer treated by using trastuzumab combined with chemotherapy. A 55-year-old man was admitted to our hospital because of dysphagia for 4 months. He was diagnosed with advanced gastric cancer with pyloric stenosis, multiple lung metastases, multiple liver metastases, peritoneal dissemination, and rectal muscle invasion. First, we initiated weekly chemotherapy with paclitaxel. Because the biopsy tissue was HER2-positive, we added trastuzumab to the weekly paclitaxel regimen. After 2 courses, dietary intake became possible, and he was then discharged from our hospital. However, after 3 courses of chemotherapy, disease progression was observed. He was admitted to the hospital again. We inserted a duodenal stent and changed the chemotherapy regimen to fluorouracil plus cisplatin(CDDP)plus trastuzumab. He did not experience any major adverse events during treatment. However, after 2 courses of chemotherapy, he died owing to cancerous peritonitis and intestinal obstruction.
- Oral prednisolone and triamcinolone injection for gastric stricture after endoscopic submucosal dissection. [Journal Article]
- Ann Transl Med 2014 Mar; 2(3):22.
The expansion of the indications for endoscopic submucosal dissection (ESD) to include early gastric cancers has enabled extensive resection. However, post-ESD stenosis after large resections applied to the gastric cardia or pylorus is often difficult to manage. The aim of this study was to evaluate the benefit of oral prednisolone and triamcinolone injection for stenosis after gastric ESD.Eight patients who underwent ESD for large neoplastic lesions that extended more than three-fourths of the luminal circumference were enrolled in this study. Four patients underwent ESD for gastric cardia cancer, and four patients were treated for pyloric lesions. To prevent post-ESD stricture, oral prednisolone was started at 30 mg daily on the second day after ESD and then tapered gradually in two cases, while topical injection of 80 mg triamcinolone was performed once immediately after ESD in six cases. Endoscopic balloon dilatation (EBD) was used for stricture-related symptoms or signs including nausea, vomiting, or food residuals observed on endoscopy. EBD was also applied if a 10-mm-diameter endoscope was not able to pass through the lumen. The incidence of stenosis, the frequency and period required for EBD, the duration required for ulcer healing after ESD, and the incidences of post-procedural bleeding and perforation were assessed.One of the eight patients had post-ESD stenosis requiring EBD. The median ulcer healing period after ESD was 87.5 (range, 56-133) days. No patients experienced post-procedural bleeding or perforation. There were no adverse events due to steroid therapy.The results of the present study showed the safety and usefulness of steroid therapy for management of stenosis after large ESD in the gastric cardia or pylorus.
- Hypertrophic pyloric stenosis in infants: is it a congenital or acquired disorder? Reflections on 2 cases. [Journal Article]
- Springerplus 2014.:555.
Based on evidence from two collected and treated clinical observations of hypertrophic pyloric stenosis in children of 5 and 12 months of age, the authors give their point of view on the unresolved issue of the etiology of hypertrophic pyloric stenosis. They emphasize that there are more and more factors to prove this is an acquired condition.
- [Single laparoscopic approach in newborns and infants]. [English Abstract, Journal Article]
- Khirurgiia (Mosk) 2014; (9):55-60.
The aim of this investigation is evidence of opportunity of single laparoscopic approach using during operations in newborns and infants. The authors have an experience of 274 single-port operations performed from January 2009 to December 2013. Success of single laparoscopic approach has been demonstrated in patients with inguinal hernia, congenital hypertrophic pyloric stenosis, feeding violations, ovarian cyst and multi-cystic kidney dysplasia.
- Duodenal obstruction due to a preduodenal portal vein. [Journal Article]
- Afr J Paediatr Surg 2014 Oct-Dec; 11(4):359-61.
An infant presented with clinical signs and symptoms suggestive of a pyloric stenosis. On abdominal ultrasound, pyloric stenosis was excluded, and other causes for proximal duodenal obstruction, such as a duodenal web or annular pancreas, were suspected. At surgery, the cause was found to be due to an anterior portal vein or preduodenal portal vein, compressing the duodenum. There were no associated findings such as midgut malrotation, duodenal web and congenital anomalies. The treatment was a diamond-shaped duodeno-duodenostomy anterior to the portal vein. The patient improved after surgery.