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Pediatric Surgery International Apr 2020Congenital duodenal obstruction (CDO) is associated with trisomy 21 (T21), or Down's syndrome, in around a third of infants. The aim of this study was to explore the...
PURPOSE
Congenital duodenal obstruction (CDO) is associated with trisomy 21 (T21), or Down's syndrome, in around a third of infants. The aim of this study was to explore the impact of T21 on the epidemiology, management, and outcomes of infants with CDO.
METHODS
Data were prospectively collected from specialist neonatal surgical centres in the United Kingdom over a 12 month period from March 2016 using established population-based methodology for all babies with CDO. Infants with T21 were compared to those without any chromosomal anomaly.
RESULTS
Of 102 infants with CDO that underwent operative repair, T21 was present in 33 [32% (95% CI 23-41%)] babies. Cardiac anomalies were more common in those with T21 compared to those without a chromosomal anomaly (91 vs 17%, p < 0.001), whereas associated gastrointestinal anomalies were less common in infants with T21 (3 vs 12%, p = 0.03). Surgical management was not influenced by T21. Time to achieve full enteral feed, need for repeat related surgery, and mortality were similar between groups. Infants with T21 had a longer median initial inpatient stay (23 vs 16.5 days, p = 0.02).
CONCLUSIONS
Infants with T21 have a higher incidence of cardiac anomalies and a longer initial inpatient stay; however, it does not change CDO management or outcomes. This information is important for prenatal and postnatal counselling of parents of infants with CDO and T21.
Topics: Abnormalities, Multiple; Digestive System Abnormalities; Digestive System Surgical Procedures; Down Syndrome; Duodenal Obstruction; Female; Humans; Incidence; Infant, Newborn; Male; Reoperation; Retrospective Studies; United Kingdom
PubMed: 32114651
DOI: 10.1007/s00383-020-04628-w -
BMC Medical Genetics Feb 2020Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous group of hereditary diabetes, generally caused by one abnormal gene. MODY5 is...
BACKGROUND
Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous group of hereditary diabetes, generally caused by one abnormal gene. MODY5 is caused by mutations of the hepatocyte nuclear factor 1 homeobox β gene (HNF1β), always as a part of Chr17q12 deletion, whereas heterozygous mutation in B lymphocyte kinase (BLK) gene is responsible for MODY11.
CASE PRESENTATION
We report a patient who developed diabetes with a 1.58-Mb Chr17q12 microdeletion and BLK gene c.211G > A mutation using the cytoscan high-density array and whole-exome sequencing analysis. The patient received the surgery at five days after birth for the duodenal atresia and had normal growth postoperatively. Mild elevated liver enzymes were found along with the normal renal function. Quantitative analysis of β-cell function markers, including fasting insulin (< 0.2 mIU/L), fasting C-peptide (0.02 μg/L), postprandial-2 h insulin (< 0.2 mIU/L), and postprandial-2 h C-peptide (0.03 μg/L) suggested a severe loss of insulin secreting capacity. Meanwhile, islet autoantibodies (GADA, IA-2, ICA, and IAA) in the patient's blood appeared negative. Neither dysplasia in other tissues nor abnormality in development and behavior was found.
CONCLUSION
To date, gastrointestinal malformations were extremely rarely reported in patients with MODY. Our clinical report further expands the clinical presentation and variability of MODY5.
Topics: Diabetes Mellitus, Type 2; Duodenal Obstruction; Female; Hepatocyte Nuclear Factor 1-beta; Humans; Infant, Newborn; Insulin; Intestinal Atresia; Male; Mutation; Phenotype; src-Family Kinases
PubMed: 32028929
DOI: 10.1186/s12881-020-0954-0 -
GE Portuguese Journal of... Jan 2020Crohn's disease (CD) is characterized by segmental and transmural involvement of any portion of the gastrointestinal tract from the mouth to the anus. Duodenal CD is a...
INTRODUCTION
Crohn's disease (CD) is characterized by segmental and transmural involvement of any portion of the gastrointestinal tract from the mouth to the anus. Duodenal CD is a rare clinical entity, with the majority of the patients being symptomless - its diagnosis requires a high level of clinical suspicion.
CASE PRESENTATION
We present the case of a 29-year-old male patient with a 2-month history of weight loss, epigastric pain and postprandial vomiting. He underwent upper endoscopy, which revealed a circumferential duodenal ulcer causing non-transposable luminal stenosis and was medicated with proton pump inhibitors. While awaiting gastroenterology consultation, he presented at the emergency department for sudden onset of abdominal pain with dorsal irradiation, nausea and vomiting. Laboratory tests showed anaemia and increased liver enzymes, amylase and lipase. Abdominal computed tomography showed ectasia of the common bile duct (CBD) and intrahepatic biliary tract and a small amount of gas in the main pancreatic duct associated with duodenal thickening. The case was interpreted as probable CD complicated by pancreatitis and obstruction of the CBD, and he was hospitalized under antibiotic therapy and hydrocortisone with improvement of the condition. After discharge, he underwent colonoscopy that revealed several ulcers in the ileum and magnetic resonance imaging that showed distension of the stomach with reduction of the calibre of the transition from the duodenal bulb to the second portion of the duodenum in a 10- to 15-mm extension, as well as associated dilatation of the intrahepatic bile ducts and CBD and diffuse and regular ectasia of the main pancreatic duct. Combination therapy with azathioprine and infliximab was initiated; the patient presented clinical response at 12 weeks and endoscopic/imaging remission at 9 months.
DISCUSSION/CONCLUSION
Hepatobiliary and pancreatic manifestations are common in CD patients involving multiple mechanisms. In this case report, we pre-sent a patient with duodenal CD complicated with pancreatitis and CBD obstruction due to distortion phenomena by duodenal stenosis, a condition that is rarely described.
PubMed: 31970238
DOI: 10.1159/000499767 -
Ultrasound in Obstetrics & Gynecology :... Oct 2020
Topics: Aneuploidy; Chromosome Disorders; Cleft Lip; Cleft Palate; Duodenal Obstruction; Female; Genetic Counseling; Humans; Intestinal Atresia; Pregnancy; Prenatal Care; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 31763723
DOI: 10.1002/uog.21934 -
Preliminary Investigation of the Diagnosis of Neonatal Congenital Small Bowel Atresia by Ultrasound.BioMed Research International 2019To assess the diagnostic value of ultrasonography (US) for congenital small bowel atresia (SBA) in neonates and their sonographic characteristics.
PURPOSE
To assess the diagnostic value of ultrasonography (US) for congenital small bowel atresia (SBA) in neonates and their sonographic characteristics.
METHODS
A retrospective analysis was performed of 20 neonates who were confirmed with SBA by operation from March 2014 to January 2019. All the neonates have been scanned by US before surgery, and no one underwent barium enema or upper gastrointestinal imaging prior to US. Preoperation ultrasound characteristics about intestinal morphology and intestinal contents were collected, further to summarize the typical ultrasonic features of SBA.
RESULTS
Five cases were duodenal atresia, and 15 cases were jejuno-ileal atresia. Distended proximal intestines, liquid with tiny points in it, can be found in 20 neonates. The small intestine without any gas can be found in 20 neonates. Microcolon, no gas and other contents in it, can be found in 16 cases.
CONCLUSIONS
The typical ultrasonic features of SBA include dilation in proximal intestines, small intestines, and microcolon. US is a promising modality in the clinical diagnosis of SBA.
Topics: Colon; Duodenal Obstruction; Female; Humans; Infant, Newborn; Intestinal Atresia; Intestinal Obstruction; Intestine, Small; Male; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 31662992
DOI: 10.1155/2019/7097159 -
Revista Espanola de Enfermedades... Nov 2019Intestinal lymphoma can appear as a result of a state of immunosuppression, secondary to the transplantation of solid organs. Treatment with chemotherapy can result in...
Intestinal lymphoma can appear as a result of a state of immunosuppression, secondary to the transplantation of solid organs. Treatment with chemotherapy can result in various complications such as intestinal stenosis due to fibrotic scar tissue, which is a complication barely described in the literature. We present the case of a 12-year-old male with a heart transplant, who was diagnosed with intestinal lymphoma. After chemotherapy treatment, he developed 1-2 daily vomiting episodes as a result of intestinal stenosis due to fibrosis without tumor infiltration. Endoscopic balloon dilation was used and the symptoms were resolved without the need for surgical treatment.
Topics: Balloon Enteroscopy; Child; Duodenal Neoplasms; Duodenal Obstruction; Duodenoscopy; Heart Transplantation; Humans; Intestinal Atresia; Lymphoma; Male; Postoperative Complications
PubMed: 31595759
DOI: 10.17235/reed.2019.6221/2019 -
BMJ Case Reports Aug 2019A 55-day-old boy was transferred to our unit with intestinal obstruction and obstructive jaundice after two neonatal operations for duodenal atresia and intestinal...
A 55-day-old boy was transferred to our unit with intestinal obstruction and obstructive jaundice after two neonatal operations for duodenal atresia and intestinal malrotation. Abdominal ultrasound showed dilated intrahepatic and extrahepatic ducts with cut-off at the distal common bile duct (CBD). He underwent emergency laparotomy for adhesive intestinal obstruction with a contained abscess from mid-jejunal perforation. Biliary dissection was not attempted due to poor preoperative nutritional status. Tube cholecystostomy was created for biliary decompression. Postoperative magnetic resonance cholangiopancreatography showed dilated CBD with cut-off at the ampulla but did not demonstrate pancreaticobiliary maljunction (PBMJ). The diagnostic dilemma was whether our patient had congenital PBMJ or had developed biliary stricture from perioperative ischaemic scarring. He underwent definitive surgery at 7 months: excision of dilated CBD with Roux-en-Y hepaticojejeunal reconstruction, excisional tapering duodenoplasty and jejunostomy creation. Intraoperative finding was type I choledochal cyst and subsequently confirmed on histology. Postoperative recovery was uneventful and bilirubin levels normalised.
Topics: Cholangiopancreatography, Magnetic Resonance; Common Bile Duct; Diagnosis, Differential; Duodenal Obstruction; Humans; Infant; Intestinal Atresia; Intestinal Obstruction; Jaundice, Obstructive; Laparotomy; Male; Pancreaticobiliary Maljunction; Reoperation; Treatment Outcome; Ultrasonography
PubMed: 31466956
DOI: 10.1136/bcr-2019-231021 -
World Journal of Clinical Cases Jul 2019Colorectal neuroendocrine carcinoma (NEC) is a rare tumor that demonstrates aggressive growth pattern with ingrowth into the tract, metastasis to the other organs, and... (Review)
Review
BACKGROUND
Colorectal neuroendocrine carcinoma (NEC) is a rare tumor that demonstrates aggressive growth pattern with ingrowth into the tract, metastasis to the other organs, and invasion to the surrounding organs; these clinical characteristics result in poor prognosis. Surgical resection appears as an effective approach; however, because it is difficult to accurately diagnose NEC during the early stage and owing to its aggressive growth pattern, development of a reliable standard chemotherapy regimen and management strategies are essential.
CASE SUMMARY
Here, we report the case of patient with NEC showing an aggressive growth pattern that resulted in the rupture of the tumor to the outside the colon after stenting of the internal colonic stenosis. In addition, the tumor invaded into the duodenum, thereby causing duodenal stenosis that required an additional stent in the duodenum. This aggressive growth pattern is one of the main features of the NEC that is different from adenocarcinoma. To clarify the clinical characteristics, we reviewed 60 recently reported cases, including data on tumor location, size, treatment, and prognosis.
CONCLUSION
We consider that the information presented here is of great significance for the diagnosis, treatment, and management of symptoms of the patients with NEC.
PubMed: 31417933
DOI: 10.12998/wjcc.v7.i14.1865 -
World Journal of Gastroenterology Jul 2019Congenital duodenal obstruction (CDO) can be complete (CCDO) or incomplete (ICDO). To date there is no outcome analysis available that compares both subtypes. (Comparative Study)
Comparative Study
BACKGROUND
Congenital duodenal obstruction (CDO) can be complete (CCDO) or incomplete (ICDO). To date there is no outcome analysis available that compares both subtypes.
AIM
To quantify and compare the association between CCDO and ICDO with outcome parameters.
METHODS
We retrospectively reviewed all patients who underwent operative repair of CCDO or ICDO in our tertiary care institution between January 2004 and January 2017. The demographics, clinical presentation, preoperative diagnostics and postoperative outcomes of 50 patients were compared between CCDO ( = 27; atresia type 1-3, annular pancreas) and ICDO ( = 23; annular pancreas, web, Ladd´s bands).
RESULTS
In total, 50 patients who underwent CDO repair were enrolled and followed for a median of 5.2 and 3.9 years (CCDO and ICDO, resp.). CCDO was associated with a significantly higher prenatal ultrasonographic detection rate (88% versus 4%; CCDO ICDO, < 0.01), lower gestational age at birth, lower age and weight at operation, higher rate of associated congenital heart disease (CHD), more extensive preoperative radiologic diagnostics, higher morbidity according to Clavien-Dindo classification and comprehensive complication index (all ≤ 0.01). The subgroup analysis of patients without CHD and prematurity showed a longer time from operation to the initiation of enteral feeds in the CCDO group ( < 0.01).
CONCLUSION
CCDO and ICDO differ with regard to prenatal detection rate, gestational age, age and weight at operation, rate of associated CHD, preoperative diagnostics and morbidity. The degree of CDO in mature patients without CHD influences the postoperative initiation of enteral feeding.
Topics: Age Factors; Child; Child, Preschool; Digestive System Surgical Procedures; Duodenal Obstruction; Duodenum; Enteral Nutrition; Female; Gestational Age; Humans; Infant; Infant, Low Birth Weight; Infant, Newborn; Infant, Premature; Laparoscopy; Male; Postoperative Period; Retrospective Studies; Treatment Outcome
PubMed: 31391773
DOI: 10.3748/wjg.v25.i28.3787 -
The Tokai Journal of Experimental and... Jul 2019Duodenal atresia concomitant with type-A esophageal atresia (DA + TA-EA) is rare. A pronounced enlargement of a closed loop of the upper gastrointestinal tract serves as...
Duodenal atresia concomitant with type-A esophageal atresia (DA + TA-EA) is rare. A pronounced enlargement of a closed loop of the upper gastrointestinal tract serves as an early clue for its prenatal detection. We describe an atypical case of DA + TA-EA in which the dilatation of the upper gastrointestinal tract remained mild. Ultrasonographic examination at 28 weeks of gestation showed mild polyhydramnios. Subsequent detailed sonographic and magnetic resonance imaging studies revealed a mildly enlarged stomach and duodenum that resembled a "double bubble," mild ascites, and polydactyly of the right thumb. Fetal abdominal circumference measurements were within normal range. A female neonate born at 36 weeks gestation did not show abdominal distension. DA + TA-EA was diagnosed based on clinical characteristics and X-ray studies of the neonate; the diagnosis was confirmed by surgery. Duodenoduodenostomy and gastrostomy in the first week of life and esophagoesophagostomy at six months of age were performed with satisfactory results, and the infant developed well. Prominent and/or increasing C-shaped fluid collection in the upper abdomen is a highly useful diagnostic sign for DA + TA-EA, but it is not applicable for all fetuses with this disease. Physicians should bear this caveat in mind to avoid diagnostic delays and initiate prompt postnatal therapy.
Topics: Adult; Duodenal Obstruction; Duodenostomy; Esophageal Atresia; Esophagostomy; Female; Fetal Diseases; Gastrostomy; Humans; Infant, Newborn; Intestinal Atresia; Magnetic Resonance Imaging; Pregnancy; Prenatal Diagnosis; Radiography; Treatment Outcome; Ultrasonography, Prenatal
PubMed: 31250423
DOI: No ID Found