scholarly journals Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome

2021 ◽  
Vol 60 (6) ◽  
pp. 1103-1106
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Chien-Hsing Lin ◽  
Chin-Yuan Hsu ◽  
Hsiang-Yu Lin ◽  
...  
Keyword(s):  
NeoReviews ◽  
2005 ◽  
Vol 6 (4) ◽  
pp. e199-e203
Author(s):  
David Randolph ◽  
Jason D. Lee ◽  
Clare Twist
Keyword(s):  

2021 ◽  
Vol 4 (03) ◽  
Author(s):  
Nazish Naseer ◽  
Sonia Yaqub

associated with vomiting and constipation. On examination he was an obese, ill looking male with a distended abdomen and bilateral palpable flank masses. Gut sounds were sluggish. Small and large bowel loops were found to be dilated on abdominal x-ray. Computed tomography scan of the abdomen showed grossly enlarged kidneys occupying almost whole of the abdomen pushing small bowel loops anteriorly. Based on clinical and radiological findings a diagnosis of sub-acute intestinal obstruction was made. Patient was managed conservatively (i.e. with NG tube and rectal decompression). This case highlights intestinal obstruction as a rare complication of ADPKD.


2020 ◽  
Vol 3 (1) ◽  
pp. 061-063
Author(s):  
Jansen Lizeri ◽  
Colleran Gabrielle ◽  
Okafor Ikechukwu ◽  
Quinn Nuala

The diagnosis of acute necrotising pancreatitis is a rare event in the Paediatric Emergency Department (ED). We report a case of acute pancreatitis in a paediatric patient, diagnosed in our ED, a tertiary level paediatric hospital. This child presented with vague symptoms of constipation, abdominal pain and back pain, and on clinical examination had a distended abdomen with peritonism. She rapidly deteriorated and needed aggressive fluid resuscitation in the ED for treatment of septic shock. The diagnosis of acute pancreatitis (AP) was only considered once elevated amylase levels were apparent. Whilst AP is an important differential diagnosis in a patient who is presenting with acute abdominal symptoms, the diagnosis in children in particular is seldom and thus easily overlooked in the previously healthy child.


PEDIATRICS ◽  
1979 ◽  
Vol 63 (5) ◽  
pp. 805-808
Author(s):  
Thomas E. Wiswell ◽  
James S. Rawlings ◽  
James L. Wilson ◽  
Gary Pettett

The syndrome of megacystis-microcolon-intestinal hypoperistalsis has been reported in a total of seven female infants. Massive abdominal distention secondary to a distended urinary Fig 1. Plain film of markedly distended abdomen with no air beyond stomach. Stomach is displaced upward toward left. der was the major presenting characteristic. Iutestinal hypoperistalsis, apparent in the early neonatal period, persists without improvement. Exploratory laparotomy reveals malrotation and malfixation of a small microcolon. No anatomic cause of intestinal or bladder obstruction can be found. Intestinal and/or rectal biopsy specimens contain abundant ganglion cells and nerve fibers. The outcome has been uniformly fatal, with survival in the reported cases ranging from two days to 34 months.


2019 ◽  
Vol 156 (6) ◽  
pp. e12-e14 ◽  
Author(s):  
David Keohane ◽  
Adeel Zafar Syed ◽  
Eamon G. Kavanagh

2017 ◽  
Vol 11 (2) ◽  
pp. 348-351 ◽  
Author(s):  
Michael Scharl ◽  
Luc Biedermann

An acute sigmoid volvulus is due to the torsion of the sigmoid colon around its mesenteric axis. It mainly occurs in elderly patients and represents an abdominal emergency requiring urgent treatment. A 53-year-old male patient with severe craniocerebral injury and traumatic subarachnoidal bleeding 3 weeks prior presented on the ward with distended abdomen without abdominal pain, muscular defense, or resistances. He featured large volume diarrhea within the last few hours without signs of bleeding. A plain abdominal X-ray demonstrated a coffee bean sign indicating a sigmoid volvulus. A consequent CT scan of the abdomen revealed a deep outlet obstruction with massively dilated, elongated and twisted loop of the sigmoid colon and no signs of perforation. We performed emergency colonoscopy under the assumption of an acute sigmoid volvulus. After careful insertion of the endoscope completely refraining from insufflation of air or CO2, endoscopic reposition of the sigma could be achieved and a colonic drainage was placed over an inserted guide wire up to the proximal transverse colon. No relapse occurred and a diagnostic colonoscopy after 4 weeks revealed no tumor or polyps. Our report describes a classic case of acute sigmoid volvulus and undermines the potential of colonoscopy as conservative primary treatment of choice.


2019 ◽  
Vol 12 (12) ◽  
pp. e229012 ◽  
Author(s):  
Aisha Sajid ◽  
Sohaib Riaz ◽  
Aqsa Riaz ◽  
Bisma Safdar

Congenital chloride diarrhoea is one of the rare causes of diarrhoea during infancy and it is infrequently reported throughout the world. It is an autosomal recessive condition which is more prevalent in Poland, Finland, Saudi Arabia and Kuwait while rarely reported in Pakistan. Our patient was 7.5-month-old baby boy who presented with diarrhoea since neonatal period. He had consanguineous parents. On examination, baby had distended abdomen, hypotonia and hyporeflexia. Investigations revealed hypochloremic hypokalemic metabolic alkalosis. Urinary electrolytes were normal. Stool electrolytes revealed increased stool chloride excretion that confirmed our diagnosis of congenital chloride diarrhoea. Patient was treated with intravenous fluids and electrolyte replacement, followed by oral potassium and sodium replacement. He was also started on butyrate, cholestyramine and proton-pump inhibitors. He started gaining weight during his hospital admission and is being followed up in clinic.


2020 ◽  
Vol 2020 (9) ◽  
Author(s):  
Andreas Skarpas ◽  
Petros Siaperas ◽  
Athanasios Zoikas ◽  
Emmanouela Griva ◽  
Ioannis Kyriazis ◽  
...  

Abstract Meckel’s Diverticulum is a sac-like protrusion of the intestinal wall. It is located at 40–60 cm from the caecum. In the majority of cases, Meckel’s Diverticulum is clinically silent, while complications are found in 4% of the population. Complicated diverticulitis is associated with the formation of abscess, fistula, bowel obstruction or frank perforation. We present a case of a 63-year-old woman with a distended abdomen, pain in the lower right abdominal quadrant, fever 37°C and where emergency exploratory laparotomy revealed that obstruction was caused by a bowel loop trapped by a mesenterium-diverticular band.


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