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https://www.readbyqxmd.com/read/28936210/novel-mutations-of-the-tetratricopeptide-repeat-domain-7a-gene-and-phenotype-genotype-comparison
#1
Reyin Lien, Yung-Feng Lin, Min-Wei Lai, Hui-Ying Weng, Ren-Chin Wu, Tang-Her Jaing, Jing-Long Huang, Shih-Feng Tsai, Wen-I Lee
The gastrointestinal tract contains the largest lymphoid organ to react with pathogenic microorganisms and suppress excess inflammation. Patients with primary immunodeficiency diseases (PIDs) can suffer from refractory diarrhea. In this study, we present two siblings who began to suffer from refractory diarrhea with a poor response to aggressive antibiotic and immunosuppressive treatment after surgical release of neonatal intestinal obstruction. Their lymphocyte proliferation was low, but superoxide production and IL-10 signaling were normal...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28928926/a-unique-complication-of-self-expandable-metal-stent-placement-in-malignant-duodenal-obstruction
#2
Christopher J Down, Lalit Kumar, Sukhpal Singh, Darmarajah Veeramootoo
Intestinal obstruction is a common complication in patients with advanced gastrointestinal malignancies. In the last two decades, endoscopic placement of duodenal stents has become a mainstay of palliative treatment in patients with unresectable obstructive duodenal pathology. Self-expandable metal stents have been reported to have excellent success rates, besides dramatically improve the patient's quality of life by reinstating the oral feeding ability. Re-intervention rates remain high, commonly as a consequence of tumour ingrowth resulting stent occlusion...
September 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28927774/chronic-intestinal-pseudo-obstruction-in-a-child-with-treacher-collins-syndrome
#3
E Giabicani, J Lemale, L Dainese, S Boudjemaa, A Coulomb, P Tounian, B Dubern
BACKGROUND: Treacher Collins syndrome (TCS) mainly presents with severe craniofacial developmental abnormalities characterized by a combination of bilateral downward-slanting palpebral fissures, colobomas of the lower eyelids, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. It is due to mutations in Treacher Collins syndrome 1 (TCOF1) (5q32-q33.1) and Polymerase RNA 1 polypeptides D and C (POLR1D [13q12...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28923049/roflumilast-reverses-cftr-mediated-ion-transport-dysfunction-in-cigarette-smoke-exposed-mice
#4
S Vamsee Raju, Lawrence Rasmussen, Peter A Sloane, Li Ping Tang, Emily Falk Libby, Steven M Rowe
BACKGROUND: Dysfunction in cystic fibrosis transmembrane conductance regulator (CFTR) can be elicited by cigarette smoke and is observed in patients with chronic bronchitis. We have previously demonstrated in human airway epithelial cell monolayers that roflumilast, a clinically approved phosphodiesterase 4 inhibitor that reduces the risk of exacerbations in chronic obstructive pulmonary disease patients with chronic bronchitis and a history of exacerbations, activates CFTR-dependent chloride secretion via a cAMP-mediated pathway, partially restores the detrimental effects of cigarette smoke on CFTR-mediated ion transport, and increases CFTR-dependent gastrointestinal fluid secretion in isolated murine intestine segments...
September 18, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28920028/type-i-jejunal-atresia-in-identical-twins-a-rare-occurrence
#5
Amrollah Salimi, Shervin Rashidi Nia, Seyed Shahin Eftekhari, Mahsa Besharati, Sara Shahmoradi
Jejunoileal atresia is of familial and non-familial in origins and classified into four different types. We herein report a rare occurrence of type I jejunal atresia in identical twins who were presented with neonatal intestinal obstruction. This report points towards common etiology of atresia in our cases and factors more than vascular accident appear to be involved.
July 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28920022/familial-near-total-intestinal-aganglionosis
#6
Hidouri Saida, Zitouni Hayet, Chahed Jamila, Mosbahi Sana, Belhassen Samia, Ksiaa Amine, Hmida Badii, Krichene Imed, Sahnoun Lassad, Mekki Mongi, Belguith Mohsen, Nouri Abdellatif
Near total aganglionosis represents the most extreme and rare form of Hirschsprung's disease. It can affect more than one member of family. We report three cases of near total intestinal aganglionosis in a family presenting with intestinal obstruction at birth. All of them were operated and a jejunostomy was performed. Outcome was dismal.
July 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28920021/closed-gastroschisis
#7
Mohammed Abdel-Latif, Mohamed H Soliman, Khaled M El-Asmar, Mohamed Abdel-Sattar, Ibrahim M Abdelraheem, Ehab El-Shafei
Closed gastroschisis is a rare entity usually associated with intestinal atresia and short bowel syndrome. We report two cases of closed gastroschisis presenting with neonatal intestinal obstruction and para-umbilical evisceration without an abdominal defect.
July 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28920016/comparison-of-t-tube-ileostomy-and-bishop-koop-ileostomy-for-the-management-of-uncomplicated-meconium-ileus
#8
Md Samiul Hasan, Ashrarur Rahman Mitul, Sabbir Karim, Kazi Md Noor-Ul Ferdous, M Kabirul Islam
BACKGROUND: Meconium ileus is a common cause of neonatal intestinal obstruction. Various surgical procedures are in practice for uncomplicated meconium ileus. Bishop Koop ileostomy allows distal passage of gut content and uses the distal absorptive area. T tube ileostomy avoids the need for gut resection and formal closure of stoma. The aim of this prospective interventional study was to compare the outcome of T-tube ileostomy and Bishop Koop ileostomy for the treatment of uncomplicated meconium ileus...
July 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28918753/neonatal-intestinal-obstruction-associated-with-situs-inversus-totalis-two-case-reports-and-a-review-of-the-literature
#9
Rahul Gupta, Varsha Soni, Prakash Devidas Valse, Ram Babu Goyal, Arun Kumar Gupta, Praveen Mathur
BACKGROUND: The association of neonatal intestinal obstruction with situs inversus totalis is extremely rare with only few cases reported in the literature to date. This association poses dilemmas in management. We present two such cases (of Indian origin), and briefly discuss the pertinent literature and measures to prevent unfavorable outcome. CASE PRESENTATION: Case 1: a 1-month-old preterm (1300 g) male neonate belonging to Hindu (Indian) ethnicity presented with recurrent bile-stained vomiting, non-passage of stools and epigastric fullness...
September 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28916936/does-diabetes-mellitus-comorbidity-affect-in-hospital-mortality-and-length-of-stay-analysis-of-administrative-data-in-an-italian-academic-hospital
#10
Francesca Valent, Laura Tonutti, Franco Grimaldi
AIMS: Hospitalized patients with comorbid diabetes mellitus may have worse outcomes than the others. We conducted a study to assess whether comorbid diabetes affects in-hospital mortality and length of stay. METHODS: For this population-based study, we analyzed the administrative databases of the Regional Health Information System of the Region Friuli Venezia Giulia, where the Hospital of Udine is located. Hospital discharge data were linked at the individual patient level with the regional Diabetes Mellitus Registry to identify diabetic patients...
September 15, 2017: Acta Diabetologica
https://www.readbyqxmd.com/read/28914843/-colonic-malformations-as-a-cause-of-acute-intestinal-obstruction
#11
A N Plekhanov, I A Olkhovsky, L V Borboyev, A I Tovarshinov
No abstract text is available yet for this article.
2017: Khirurgiia
https://www.readbyqxmd.com/read/28913814/child-with-abdominal-pain
#12
Rajalakshmi Iyer, Karthi Nallasamy
Abdominal pain is one of the common symptoms reported by children in urgent care clinics. While most children tend to have self-limiting conditions, the treating pediatrician should watch out for underlying serious causes like intestinal obstruction and perforation peritonitis, which require immediate referral to an emergency department (ED). Abdominal pain may be secondary to surgical or non-surgical causes, and will differ as per the age of the child. The common etiologies for abdominal pain presenting to an urgent care clinic are acute gastro-enteritis, constipation and functional abdominal pain; however, a variety of extra-abdominal conditions may also present as abdominal pain...
September 15, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28912083/nasogastric-decompression-not-associated-with-a-reduction-in-surgery-or-bowel-ischemia-for-acute-small-bowel-obstruction
#13
Daniel J Berman, Hamza Ijaz, Mohammad Alkhunaizi, Paige E Kulie, Khashayar Vaziri, Lorna M Richards, Andrew C Meltzer
OBJECTIVES: Small bowel obstructions (SBOs) occur 300,000 times annually leading to $1.3 billion in cost. Approximately 20% of patients require a laparotomy to manage the obstruction and either prevent or treat intestinal ischemia. Early management may play a role in reducing these complications. Nasogastric decompression is commonly used for early management. Our primary objective was to determine if NGD was associated with lower rates of surgery, bowel ischemia or length of stay. METHODS: We retrospectively enrolled 181 ED patients with SBO from 9/2013 to 9/2015 in order to determine if nasogastric decompression was associated with a reduction in rates of surgery, bowel ischemia or hospital length of stay...
August 15, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28906349/intestinal-obstruction-due-to-kaposiform-hemangioendothelioma-in-a-1-month-old-infant-a-case-report
#14
Joong Kee Youn, Shin-Hoo Park, Ji-Won Han, Chaeyoun Oh, Hyun-Young Kim, Sung-Eun Jung
RATIONALE: Kaposiform hemangioendothelioma (KHE) is an aggressive vascular tumor, mainly occurring in infants and young children and previously reported cases were mainly cutaneous or visceral form. Intestinal kaposiform hemangioma was first reported in 2012. Intestinal type KHE showed better prognosis if the lesion was limited in the gastrointestinal tract and coagulopathy was not accompanied. Since the number of reported cases is small, further study for treatment options and prognosis need to be done...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28904922/report-of-a-case-and-review-of-literature-of-internal-hernia-through-peritoneal-defect-in-pouch-of-douglas-a-rare-occurrence
#15
Vamseedharan Muthukumar, Sarveswaran Venugopal, Surees Kumar Subramaniam
Intestinal obstruction attributable to internal hernia as a cause is a rare phenomenon with a reported incidence of 0.6%-5.8%. Internal hernias ensuing as a result of defect in the pouch of Douglas is extremely rare with only six such cases reported so far in the literature. We present a case of 74-year-old posthysterectomy status female who presented with features of intestinal obstruction. Intraoperatively, the site of obstruction was found to be a rent in the peritoneum of the pouch of Douglas through which a loop of ileum was found herniating...
July 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/28904734/a-17-year-old-male-with-a-small-bowel-neuroendocrine-tumor-flushing-differential-diagnosis
#16
Maria Alejandra Forero Molina, Elizabeth Garcia, Deyanira Gonzalez-Devia, Rafael García-Duperly, Alonso Vera
BACKGROUND: Neuroendocrine tumors (NETs) are heterogeneous neoplasms that originate from cells with a secretory function. Small bowel NETs (SB-NETs) are related to serotonin hypersecretion which causes: flushing, diarrhea, abdominal pain, bronchoconstriction and heart involvement, also known as carcinoid syndrome (CS). CS can be confused with an allergic reaction and thus should be considered as a differential diagnosis in the allergy consult. We present the case of a pediatric patient initially referred under the suspicion of food allergies...
2017: World Allergy Organization Journal
https://www.readbyqxmd.com/read/28904661/-occlusion-secondary-to-congenital-internal-transmesenteric-hernia-about-2-cases
#17
Souleymane Ouedraogo, Salam Ouedraogo, Jean Luc Kambire, Maurice Zida, Adama Sanou
Internal hernia due to mesenteric defect or transmesenteric hernia is a rare cause of acute intestinal obstruction. Its diagnosis is most often done during surgery. The knowledge of its clinical peculiarities allows the preoperative diagnosis. We here report 2 cases of acute intestinal obstruction secondary to congenital transmesenteric hernia in two adult patients. This study aims to highlight the clinical peculiarities of this rare form of internal hernia.
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28904245/gallstone-ileus-in-an-ederly-patient-case-report
#18
Antonino Tornambè, Giuseppe Tornambè
AIM: To report an another case of gallstone ileus in ederly patient that was treated with simple enterolithotomy. MATERIAL OF STUDY: We report a case of 84 years old female that was admitted with intestinal obstruction. A CT scan suggested small bowel obstruction secondary to gallstone ileus. In relation to the overall clinical condition, we decided to perform a simple enterolithotomy. DISCUSSION: The first case of a cholecysto intestinal fistula with a gallstone within the gastro intestinal tract was described n 1654 by, Thomas Bartholin in a necropsy study...
September 4, 2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28904243/solitary-fibrous-tumour-a-rare-cause-of-acute-abdomen
#19
Nicole Grech, Ernest Ellul, Neville Spiteri, Miljan Milic
Solitary Fibrous Tumours(SFT), previously known as haemangiopericytoma, are rarely encountered in surgery. They arise from mesenchyme tissue and can occur at several sites in the body - head and neck, extremities, thorax, abdomen and retroperitoneal space. In the thorax, where they arise from the pleura, and abdomen they may attain a large size before giving rise to symptoms. Most SFT behave in a benign manner. However a number of them recur locally or metastasize. Recurrences can occur several years after excision of the primary tumour...
March 29, 2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28903762/mesh-penetrating-the-cecum-and-bladder-following-inguinal-hernia-surgery-a-case-report
#20
Hiroshi Asano, Saori Yajima, Yoshie Hosoi, Makoto Takagi, Hiroyuki Fukano, Yasuhiro Ohara, Nozomi Shinozuka, Takaya Ichimura
BACKGROUND: Tension-free repair using mesh is a common inguinal hernia surgical procedure. However, various complications such as mesh-related infection and recurrence may develop as a result. Moreover, although rare, there are also reports of intestinal obstruction caused by adhesion of the mesh to the intestinal wall and cases of mesh migration into various organs. Here, we report our experience with a patient in whom mesh extraction was performed due to migration of mesh into the intestinal tract following inguinal hernia surgery and formation of a fistula with the bladder...
September 14, 2017: Journal of Medical Case Reports
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