Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021843 (bowel obstruction)
 9,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Premature male ischiopagus tetrapus twins weighing 2.2 kg were born unexpectedly. They required initial ventilation for respiratory distress syndrome and an emergency laparotomy for intestinal obstruction at 10 days of age. At 8 months of age, formal separation was carried out. Primary skin closure was possible without the use of any tissue expander. Anaesthesia was supplemented with continuous intra- and post-operative epidural analgesia, with great benefit. Both twins are alive and well 18 months after surgery. Details of the anatomical findings and preparation for surgery are discussed.
 ...
PMID:Separation of ischiopagus tetrapus conjoined twins in the Sultanate of Oman. 909 40

Acute gastric volvulus in infancy is a rare disorder and a surgical emergency. Prompt clinical suspicion and radiological assessment are essential for this life-threatening condition. We report a 3-month-old female case, admitted for an initial suspicion of an intestinal obstruction. She presented unproductive retching, respiratory distress, epigastric distension and lethargy. It was not possible to introduce a naso-gastric tube. A radiological contrast study showed an occluded cardio-esophageal junction without passage of barium, two gastric fluid levels and a horizontally positioned stomach occupying the inferior portion of the left hemithorax, suggesting a left diaphragmatic hernia. Laparotomy revealed an acute mesenterico-axial gastric volvulus with a left posterolateral diaphragmatic hernia. The stomach volvulus was untwisted, the diaphragmatic defect was repaired after reduction of the herniated contents and no gastropexy was done. At 3 and 6-months follow-up examination the infant was asymptomatic and thriving.
 ...
PMID:Acute gastric volvulus and congenital posterolateral diaphragmatic hernia. 916 58

Patients with congenital diaphragmatic hernias (CDH) usually present soon after birth with respiratory distress. Occasionally presentation is delayed. Twelve patients with delayed presentation (outside the neonatal period) of a total of 91 with CHD were seen over 17 years (1977-1994). Case records were reviewed to identify reasons for late presentation, evidence of morbidity, treatment and outcome. Age at presentation ranged from 6 weeks to 30 months (mean 8 months). Ten patients were aged 6 months or younger and there was an equal number of boys and girls. Seven cases were left-sided, 4 right-sided and 1 was anteriorly placed and bilateral. Ten patients presented acutely, 5 with small-bowel obstruction and 5 with respiratory distress, but all of the latter had a history of previous recurrent chest infection. Diagnosis was confirmed by radiographic examination of the chest in 10, barium meal in 1 and a 5-month-old patient had an inappropriate laparotomy and gastrojejunostomy for duodenal obstruction at an outlying hospital. Two had documented normal chest radiographs 3 and 6 months prior to diagnosis. Patients who presented with gastro-intestinal symptoms were older (mean age 1 year) compared with those with predominantly respiratory symptoms (mean age 19 weeks). None had any evidence of bowel strangulation. All were repaired via an abdominal approach. A hernial sac was found in half the cases (4/7 left and 2/5 right). Five had non-rotation of bowel. Primary repair without patch was carried out in all. One child with lung hypoplasia and multiple cardiac abnormalities died; the others recovered well. Delay in presentation of CDH is not uncommon (14% in this series). Most patients will have respiratory symptoms. A normal previous chest radiograph does not exclude the diagnosis. All patients with recurrent chest infection should have a contrast meal investigation early on. Long-term prognosis is favourable and postoperative morbidity is minimal, despite late presentation.
 ...
PMID:Delayed presentation of congenital diaphragmatic hernia. 926 75

Isolated fetal ascites is a rare abnormality that can be detected prenatally by sonography. Fetuses with transient or isolated ascites were reported to have a good outcome if the specific etiology is confirmed and the appropriate treatment is given. In this report, we present 5 cases of nonimmune fetal ascites of different etiologies and obstetric managements. Fetuses that presented with generalized hydrops, chromosomal abnormalities and viral etiologies were excluded. Four of the fetuses survived without major neonatal complications, which included one chyloperitoneum, one meconium peritonitis and 2 idiopathic causes. Spontaneous resolution occurred in three cases. The one treated with prenatal paracentesis did not experience respiratory distress after birth but the other who did not undergo the procedure showed neonatal respiratory distress. The only neonatal mortality was a case involving intestinal obstruction who developed necrotizing enterocolitis four days after the surgery. Nonimmune fetal ascites can have a good outcome by using ultrasound in establishing the specific prenatal diagnosis and surveillance.
 ...
PMID:Isolated fetal ascites: five cases report. 960 68

Perforation during attempted gas-enema reduction of intussusception is more common than during a barium enema. In a review of 650 consecutive attempted gas enemas, perforation occurred in 7 infants (1.1%). Gross abdominal distension from the pneumoperitoneum may be rapid and cause splinting of the diaphragm, which leads to acute respiratory distress. This complication is readily recognised at the time of the gas enema, and may require immediate intervention by paracentesis using a 14-gauge needle. A review of 7 children with intussusception in whom perforation occurred revealed that all had radiologic evidence of bowel obstruction (air-fluid levels) prior to the enema, and the patients had had a relatively long history since the onset of symptoms. No perforation occurred during a delayed repeat enema reduction. Perforation during gas enema produces minimal peritoneal contamination. No pathological lesion at the lead point of the intussusception was identified in any of the children in whom perforation occurred.
 ...
PMID:Perforation during gas reduction of intussusception. 988 Jul 38

Cystic fibrosis is the most common life-limiting recessive genetic disorder in Caucasian. It is caused by mutations of CFTR gene (cystic fibrosis transmembrane conductance regulator); at present over 500 mutations are known. Cystic fibrosis as a cause of respiratory distress in the neonate is quite rare. In neonatal period the most important clinical manifestations are meconium ileum and much rarely cholestatic jaundice. We present two cases of cystic fibrosis in newborns. In the first one, we point out the strict association between meconium ileum and cystic fibrosis. The patient underwent a surgical treatment for meconium ileum and the diagnosis was rapidly confirmed by genetic analysis and sweat test. The second one had intestinal obstruction from birth caused by meconium ileum associated with ileal atresia; besides, he developed cholestatic jaundice, severe and rapidly progressive respiratory disease. He died at 102 degrees day of age for cardiac failure. The diagnosis of cystic fibrosis, supported by typical clinical features and high level of serum trypsin, unfortunately wasn't confirmed by genetic analysis (lambda F508/neg), in addition, the sweat test wasn't reliable because an inadequate quantity of sweat was collected.
 ...
PMID:[Neonatal cystic fibrosis: report of 2 cases]. 1142 48

In right congenital diaphragmatic hernia (RCDH), several clinical diagnostic pitfalls are possible and should be known to those caring for infants and children with this disorder. The records of the 18 patients at Hotel Dieu de France Hospital with a history of CDH between 1990 and 1999 were collected; those of the ten who had a RCDH were reviewed retrospectively. The mean age at diagnosis was 6 months; the male-to-female ratio was 2:3. The delay between the first symptom and the diagnosis ranged between 0 and 10.5 months (mean 4.5 months). An acute presentation was observed in four cases, consisting of respiratory distress in three; the 4th presented with gastric volvulus and intestinal obstruction. The presenting symptoms were mild in four cases; recurrent respiratory infections in three and failure to thrive in one. The diagnosis was incidental in two cases during the evaluation of respiratory symptoms attributed to an atrial septal defect. The radiologic findings provided by a chest radiograph (CxR) were sufficient to make an accurate diagnosis in eight cases and peritoneography was useful in one. In six cases, the presenting CxR had been misinterpreted as normal or acute lobar pneumonia. Pathologic findings at surgery consisted of lateral and posterior right diaphragmatic defects in nine cases; the defect was lateral and anterior in one. A hernia sac was found in seven cases; malrotation was present in three. Surgical correction was done by an abdominal approach in nine cases and a thoracic approach in one. The diaphragmatic defect was repaired by transverse closure in six cases, diaphragm plication in three and prosthetic closure in one. The postoperative outcome was uneventful in eight cases. Two patients died. Thus, RCDH seems to cause less severe symptoms than left-sided LCDH. It usually manifests beyond the neonatal period as respiratory or gastrointestinal symptoms. The diagnosis should be made easily by a CxR. The presence of a hernia sac correlated with a mild presentation. An abdominal surgical approach is preferred.
 ...
PMID:Right congenital diaphragmatic hernia a well-known pathology? 1269 19

Early-onset respiratory distress and a radiographic appearance of an aspiration syndrome occurred in two neonates with gastroschisis who had evidence of inhalation of bile. Hypoxemic respiratory failure developed in both infants, contributing to death or prolonged respiratory morbidity. Bile aspiration syndrome should be considered whenever there is early-onset respiratory distress in a neonate with high intestinal obstruction.
 ...
PMID:Aspiration of bile as a cause of respiratory distress in the newborn infant. 1500 52

Wolf-Hirschhorn syndrome (WHS, OMIM 194190) is a chromosomal disorder characterized by retarded mental and physical growth, microcephaly, Greek helmet appearance of the facies, seizures/epilepsy. Closure defects of lip or palate, and cardiac septum defects occur in 30-50% of cases. Its cause is a deletion in the short arm of chromosome 4. We present a male patient, born after 37 weeks gestation, as the fourth pregnancy of non-consanguineous healthy parents, with unilateral cleft lip and palate, hypertelorism, a right-sided ear tag, and mild epispadias. At age 10 weeks he developed acute respiratory distress and acute bowel obstruction requiring emergency laparotomy. This revealed a left-sided posterolateral diaphragmatic defect, type Bochdalek, with incarceration of the small intestines necessitating major bowel resection. Clinical genetic investigation suggested a chromosome anomaly, but regular karyotyping was normal. However, FISH analysis showed a microdeletion in the short arm of chromosome 4 (4p-), consistent with WHS. A combination of this syndrome with congenital diaphragmatic hernia (CDH) has been rarely described. CDH can present either as an isolated defect at birth, or with multiple congenital abnormalities, or as part of a defined syndrome or chromosomal disorder. Therefore CDH, although not common in WHS, can lead to its diagnosis relatively early in life. We strongly recommend a clinical genetic evaluation of each CDH patient with facial anomalies taking into consideration 4p- deletion syndrome.
 ...
PMID:Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia. 1510 10

An 81-year-old female patient was admitted to the emergency room of our hospital with complaints of respiratory distress, abdominal ache, nausea, and intermittent vomiting. A plain X-ray of the abdomen and chest revealed air-fluid levels on the abdomen and the right side of the chest. Laboratory tests showed severe acidemia with a blood base excess level of -24.9 mmol/L. Since the patient was considered to have acute intestinal obstruction due to transverse colon herniation into the thorax through a foramen of Morgagni, emergency surgery was performed. Operative findings revealed that the retrosternal diaphragm had a defect of 5 cm in diameter and 20 cm in length with the transverse colon herniated into the thorax. The diaphragm defect was sutured first, and partial resection of the transverse colon was performed. After the operation, the patient had no symptoms and no recurrence has been observed during the 1-year follow-up. There have been 263 reported cases of Morgagani hernia in Japan. The case of the Morgagni hernia is reported here with some bibliographical comments.
 ...
PMID:A case of symptomatic Morgagni's hernia and a review of Morgagni's hernia in Japan (263 reported cases). 1691 44


<< Previous 1 2 3 4 Next >>