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Risks of selected congenital malformations among offspring of mixed race-ethnicity.

BACKGROUND: Little is known about the occurrence of specific congenital malformations among offspring of mixed race-ethnicity. METHODS: Using data from a population-based registry, we explored the occurrence of selected malformation phenotypes in offspring to parents who were of different race-ethnicity. Data were derived from the California Birth Defects Monitoring Program, a population-based active surveillance system for collecting information on infants and fetuses with congenital malformations using multiple source ascertainment. Approximately 2.6 million live births and stillbirths occurred during 1989-2000. Information on parental race-ethnicity (non-Hispanic white, Hispanic, black, and Asian) was obtained from birth certificates and fetal death files. Malformation phenotypes studied were spina bifida, anencephaly, cleft lip, cleft palate, tetralogy of Fallot, d-transposition of great arteries, hypospadias, small intestinal atresia, preaxial polydactyly, microtia, and hypertrophic pyloric stenosis. RESULTS: A total of 11.2% of births were to parents of mixed race-ethnicity. Compared to births of parents who were both white, moderately increased risks (risk ratio >/= 1.7) of anencephaly, polydactyly, and microtia, and decreased risks (risk ratio </= 0.6) of hypospadias and hypertrophic pyloric stenosis were observed among births of several mixed race-ethnicity groups. For anencephaly, polydactyly, and microtia, but not other phenotypes, the risks were different depending on whether maternal versus paternal race-ethnicity was considered. Risks observed between births of a nonwhite parent and a white parent and births of parents who were both nonwhite were similar for most malformation phenotypes. CONCLUSIONS: Some malformation phenotypes appear to vary in their risk based on mixed racial-ethnic groupings.

California↗

Aetiology of idiopathic growth hormone deficiency in England and Wales.

Information on height, sex, age, and condition of mothers' pregnancy and labour was obtained on all first- and second-degree relatives of 140 cases of idiopathic growth hormone deficiency (GHD). Less detailed information was available for 68 further cases, the two samples together constituting all cases from England and Wales treated under the Medical Research Council Clinical Trial of Human Growth Hormone up till 1974. Compared with the Perinatal Mortality survey of 1958, idiopathic GHD cases showed a significantly greater incidence of breech births (13-7%), of forceps deliveries especially in multiparae (5-6%), and of reported early vaginal bleeding (7-1%). The incidences of breech and forceps were both higher in cases with multiple pituitary hormone deficiency than in cases of 'isolated' GHD. The frequency of either breech or forceps was 43% in multiple and 20% in 'isolated' GHD. Heights of fathers and sibs of affected cases averaged the 50th centile; those of mothers the 35th centile. The ratio of boys to girls affected was 3-8. There were 4 families with more than one member affected; 4-5% of the brothers of probands were themselves affected, 2% of fathers and 1-5% of both sisters and mothers. In the world literature the sex ratio averages about 2-9 with little difference between series; the frequency of breech delivery averages 21% with large differences (2% to 50%) between series. A table of relative risks is given from which a screening procedure may be constructed; following 1% of selected births would give 10% of cases, and 20% of births 50% of cases. We propose a multifactorial aetiology for GHD which brings it into line with malformations such as anencephaly, cleft lip and palate, and pyloric stenosis. An underlying liability to the disease is postulated, continuously distributed in the population and depending on both polygenic and environmental factors among which sex and birth trauma are important. The disease becomes manifest when the liability value reaches a fixed threshold. On this assumption, heritability of idopathic GHD is approximately the same as that of coeliac disease, pyloric stenosis, and patent ductus.

Adolescent↗

Acid secretion in Zulu and Indian patients with duodenal ulcers.

Pentagastrin-stimulated maximal acid output (MAO) was measured in 337 male patients with duodenal ulcers, 209 of whom were Indian, and 128 of whom were Zulus. The mean MAO standard deviation (SD) value for Zulu patients with uncomplicated ulcers was 36,2 +/- 10,5 mEq/h. In the patients with complicated ulcers, the maximal acid output was 38,5 +/- 6,3 mEq/h in patients with pyloric stenosis, 31,5 +/- 13,7 mEq/h in patients with haemorrhage and 42,9 +/- 9,2 mEq/h in patients with perforation. A statistically significant difference was obtained only in the group with perforation (Pless than0.05). The mean MAO +/- SD value for Indian patients with uncomplicated ulcers was 29,2 +/- 17,0 mEq/h. In those with complicated ulcers, the MAO value in pyloric stenosis was 30,5 +/- 5,5 mEq/h in those with haemorrhage 22,0 +/- 13,7 mEq/h and for patients with perforation, 27,8 +/- 7,5 mEq/h. A statistically significant difference in values was not obtained in Indian patients. In the Zulu patients, 77,6% had MAO values above the upper limit of normal (mean + 2 SD), while in Indian patients only 17.6% had MAO values above the upper limit of normal. The difference between the 2 percentages is highly significant (Pless than0,0001). The proportion of male patients with stimulated acid secretion measurements above the upper limit of normal in other reported series is 30-50%.

Adult↗

A long-surviving patient with unresectable advanced gastric cancer responding to S-1 after receiving improved gastrojejunostomy.

Conventional gastrojejunostomy has been employed for unresectable advanced gastric cancer with pyloric stenosis; however, it is often not fully effective. We report a patient with unresectable gastric cancer who was effectively treated with an anticancer drug, S-1, after receiving an improved gastrojejunostomy. The patient was a 55-year-old woman who was referred to our hospital for epigastric pain. Upper gastrointestinal endoscopy showed a Borrmann III tumor in the antrum of the stomach, and gastric roentgenography showed pyloric stenosis. Preoperative findings were T3N2H0P0, stage III b. At operation, the tumor was found to have invaded the duodenum and the head of the pancreas, and disseminated nodules were found in the mesenterium of the small intestine, the left diaphragm, and the round ligament of the liver. A curative operation was impossible for the advanced gastric cancer. Therefore, an improved gastrojejunostomy was performed to allow oral intake. Oral intake started 7 days after the operation, and she left our hospital 20 days after the operation. She started treatment with 80 mg/day of S-1, given orally, for 28 days, followed by 14 days' rest, as 1 course. During 16 courses of the treatment, she maintained a performance status of 0 to 1 and maintained quality of life. However, she died because of pelvic dissemination and genital bleeding (caused by tumor invasion into the uterus) 2 years and 4 months after the surgery. This case suggested that the improved gastrojejunostomy was a useful method for treating unresectable gastric cancer, allowing the possibility of oral intake, and the use of S-1.

Adenocarcinoma↗

A clinicopathological study of distal advanced gastric carcinoma with duodenal invasion.

We studied retrospectively the clinicopathological features of gastric cancer with duodenal invasion and compared these with those with non-invasion, to investigate the prognostic significance of duodenal invasion. The patients were grouped into two groups of Group A (65 patients) with duodenal invasion and Group B (197 patients) without invasion who underwent gastrectomy for advanced distal gastric carcinoma according to histological findings. In Group A, many were at high age and with symptoms of pyloric stenosis. Group A (91%) had a significantly higher incidence of serosal invasion and infiltration into the pancreas head than did Group B (76%) (p < 0.01). In N3 metastasis, there was a significant difference between Group A (60%) and Group B (36%) (p < 0.01). The five-year-survival rate in Group A was 14.0% and in Group B was 43.3% (p < 0.001). In cases of duodenal invasion, patients with symptoms of pyloric stenosis demonstrated a poorer prognosis than those without. Those with longer than 20 mm invasion had a significantly higher incidence of N3 metastasis than those with less than 10 mm (p < 0.05). Lymphangitic type had longer invasive length to duodenum, and N3 metastasis of the lymphangitic type was frequent comparing to localized type (42%) and invasive type (47%) (p < 0.001) (95%) (p < 0.01). These results showed that duodenal invasion was a significant prognostic factor in cases of distal gastric carcinoma. In the therapeutic strategy for advanced gastric carcinoma with duodenal invasion, it is necessary to perform gastrectomy with regional lymph nodes dissection and with combined resection of adjacent organs.

Aged↗

Synchronous multiple primary cancers of the stomach and duodenum in aged patients: report of two cases.

We describe herein the cases of two aged patients found to have synchronous multiple primary cancers of the stomach and duodenum. The first patient was an 82-year-old man who was preoperatively diagnosed as having gastric cancer after presenting with signs of pyloric stenosis. At laparotomy, duodenal cancer was incidentally found to have infiltrated the transverse colon. A pancreatoduodenectomy and right hemicolectomy with radical lymph node dissection was performed. Two early well-differentiated adenocarcinomas of the stomach and an advanced poorly differentiated adenocarcinoma of the duodenum were confirmed. This patient is now well without any evidence of recurrence more than 5 years after surgery. The second patient was a 77-year-old man who was also diagnosed as having gastric cancer after presenting with signs of pyloric stenosis. Preoperatively, duodenal cancer was detected by endoscopy. A pancreatoduodenectomy and partial colectomy with radical lymph node dissection was performed because the duodenal cancer was suspected of having infiltrated the transverse colon. An early moderately differentiated adenocarcinoma of the stomach and an advanced moderately differentiated adenocarcinoma of the duodenum were confirmed, but the duodenal cancer was not seen to invade the transverse colon microscopically. This patient died of cancer 7 months after surgery. Because multiple primary cancers commonly develop in elderly patients, a precise preoperative diagnosis must be made and optimal treatment applied.

Adenocarcinoma↗

[Caudal epidural anesthesia in pyloromyotomy in infants: our experience].

The aim of this work is to introduce an alternative to ordinary anaesthetic with tracheal intubation for the surgery of pyloric stenosis. We argue in favour of this alternative that it can be achieved with relative ease if the technique of caudal epidural is well known, a better control of peri and post-operative analgesia without the need of opiates, and that this technique obviates orotracheal intubation and intermittent positive pressure ventilation. Based on our experience with 18 patients, we introduce the anaesthetic technique, the monitoring systems and the obtained results. Our conclusion is that this technique is a good alternative to general anaesthetic for the surgical treatment of pyloric stenosis.

Anesthesia, Caudal↗

Review of the management of duodenal ulcer in Tikur Anbessa Hospital Department of Surgery, 1973-1980.

During the period which comprised this study, September 1973 to August 1980, 346 patients were operated on for duodenal ulcer. 230 patients whose charts could be retrieved were retrospectively analysed. The diagnosis was confirmed by barium meal in 168 patients and endoscopy in 57 cases, and all were operated by the staff of the department. The peak age incidence was 30 to 40 years with male to female ratio of 5:1, a sex proportion more consistent with that usually reported for duodenal ulcer in the west. Although pyloric stenosis was relatively more observed among peasant farmers, no preferential predilection to any other professional group was noticed. The commonest surgical indication was gastroduodenal obstruction. Truncal vagotomy and drainage was performed in 178 (77.4%) patients. Follow up of patients was extremely difficult and therefore only two thirds could be followed for about 24 months. In these, dumping was present in 4 (2.60%) patients; diarrhoea in 2 (1.30%) patients, and a recurrence of ulcer in 5 (3.40%) patients. It is to be concluded that truncal vagotomy and gastric drainage is a satisfactory modality of therapy for chronic duodenal ulcer in general and pyloric stenosis in particular since this can be accomplished with an acceptable morbidity and mortality.

Adult↗

[Myoelectric gastric activity using cutaneous electrogastrography--electrogastrogram].

Cutaneous electrogastrography was performed in nine healthy volunteers and in 43 patients presenting with various clinical conditions known to be associated with gastric motor disorders, including: 24 with functional dyspepsia, nine with longstanding diabetes mellitus, five with recent nausea/vomiting, three with pyloric stenosis, one with post-vagotomy gastroparesis, and one with idiopathic gastric distension and atony. The electrogastrography signal was recorded during 1h pre-prandial period and 1h after eating. The electrogastrography dominant frequency and power were determined using running spectral frequency analysis and the time-course of electrogastrography was evaluated in a pseudo three dimensional graphic. The electrogastrography dominant frequency was divided into four bands: 1. Bradygastria (0-2.4 cpm); 2. Normal (2.4-3.9 cpm); 3. Tachygastria (4.0-9.9 cpm); 4. Duod-resp (10.0-15.0 cpm). The percentage of the dominant electrogastrography power into those four frequency bands was determined. Electrogastrography was considered normal if functional dyspepsia was normal in more than 65% of the time. The electrogastrography was normal (dominant frequency into 3 cpm range in > 65%) in: 9/9 healthy volunteers, 3/3 pyloric stenosis, 4/5 nausea/vomiting, 3/9 diabetes mellitus, 13/24 functional dyspepsia. Gastric dysrhythmias were present in > 35% of the electrogastrography recording in: 1/5 nausea/vomiting, 11/24 functional dyspepsia, 6/9 diabetes mellitus, 1/1 post-vagotomy gastroparesis, 1/1 gastric distension and atony. Persistent tachygastria (> 10%) was found in: 1/1 gastric distension and atony (90% electrogastrography), 1/1 post-vagotomy gastroparesis, 1/5 nausea/vomiting, 6/9 diabetes mellitus, 6/24 functional dyspepsia. It was concluded that electrogastrography is a non-invasive, well-tolerated, reliable means of recording gastric myoelectric activity and gastric dysrhythmias. Patients presenting with gastric motor disorders, with chronic dyspeptic symptoms, or acute nausea may present transitory or persistent gastric dysrhythmias.

Adolescent↗

Erythromycin for feeding intolerance in preterm infants.

BACKGROUND: Functional immaturity of gastointestinal motility predisposes preterm infants to feeding intolerance. Motilin, a gastrointestinal peptide, stimulates propagative contractile activity during phase III of the migratory motor complex in the interdigestive state. Erythromycin (EM) is a motilin agonist with prokinetic effect at low doses (1-3mg/kg). OBJECTIVES: To evaluate the effectiveness of EM in promoting gastrointestinal motility in preterm infants with feeding intolerance and assess clinically significant adverse effects associated with its use. SEARCH STRATEGY: Systematic literature search in accordance with the Cochrane Neonatal Collaborative Review Group search strategy. Randomized and quasi-randomized controlled trials of EM use, at any dose, in preterm infants to promote gastrointestinal motility were identified by searching MEDLINE, EMBASE, CINAHL, the Cochrane Library, reference lists of published studies, personal files, and abstracts published in Pediatric Research. SELECTION CRITERIA: Randomized controlled trials of oral or intravenous EM use at dose range of 3 to 12 mg/kg/day in preterm infants less than or equal to 36 weeks gestational age with feeding tolerance were included in this review. DATA COLLECTION AND ANALYSIS: Data regarding the primary clinical outcome of days to achieve full enteral feeding were compared among studies. Data on secondary outcomes including adverse effects associated with the use of EM (diarrhea, nosocomial infections, cardiac arrhythmias, or theophylline toxicity), duration of parenteral nutrition, weight gain, incidence of necrotizing enterocolitis (NEC), hypertrophic pyloric stenosis, and length of hospital stay were assessed. MAIN RESULTS: Two randomized controlled studies of EM use in preterm infants for improving gastrointestinal motility were identified. Since both studies involved preterm infants treated with EM at dose >12mg/kg/day at commencement of feeding, they did not meet inclusion criteria defined a priori for this review. There was no statistically significant difference in the incidence of NEC (RR 0.59, 95%CI 0.11, 3.01; RD -0.021, 95%CI -0. 087, 0.045). No statistically significant difference was noted in days to achieve full enteral feeds, length of hospital stay, and adverse events between groups. REVIEWER'S CONCLUSIONS: EM at antimicrobial doses may not be effective in preterm infants with feeding intolerance. Further studies are needed to determine whether EM in lower doses is effective as a prokinetic agent in such infants.

Anti-Bacterial Agents↗

Determination of cholinesterase and acetylcholinesterase in amniotic fluid. Uses in prenatal diagnosis and quality control.

The determination of acetylcholinesterase (AChE) has been shown to be as specific as alphafetoprotein (AFP) for the prenatal detection of open neural tube defects although AFP remains the method of choice. This paper describes a semi-automated technique for the analysis of acetylcholinesterase in amniotic fluid that: A) reduces the cost of the procedure; B) allows for a larger number of samples to be run at a time; and C) provides for more accurate and reproducible procedures and results. Six fetuses with neural tube defects (2 with gastroschisis and 3 where one twin was dead) were detected and found to have elevated AChE, TChE and 2 bands by electrophoresis. Quality control procedures using both pure enzyme and amniotic fluid with low and high levels of the enzyme are described. The analysis of 340 amniotic fluids of normal pregnancies indicates that the normal value for AChE is 5.17 +/- 2.63 mU/ml (97% confidence interval for the mean 4.84-5.49 mU/ml. A group of 27 abnormal pregnancies provides evidence that fetal vomiting and regurgitation, fetal demise, multiple cysts syndrome, idiopathic IUGR, arthrogryposis multiplex, hydrocephaly (stenosis of aqueductus), trisomy 21, trisomy 18, hydronephrosis, pyloric stenosis, heart malformation, ectopia cordis and multiple gestation produce elevated levels of pseudocholinesterase (PChE) in amniotic fluid. The use of pseudocholinesterase levels in amniotic fluid for prenatal diagnosis is proposed and discussed in view of its elevated levels in abnormal pregnancies where AChE is normal. The normal values for PChE are 23.86 mU/ml (mean) and 5.83 for standard deviation. Electrophoretic analysis was performed on all samples with values higher than one standard deviation above the mean.(ABSTRACT TRUNCATED AT 250 WORDS)

Acetylcholinesterase↗

[Hypertrophic stenosis of the pylorus. Ultrasound and traditional diagnosis. Comparison of methods].

Hypertrophic pyloric stenosis (HPS) is the most frequent cause of abdominal surgery during the first months of life. A new diagnostic approach to this type of pathology is given by ultrasound examination which offers the opportunity to perform a precise study of pyloric muscle thickness, pyloric diameter width and pyloric muscle length. Ultrasound provides a quick diagnostic tool sparing radiation exposure to the patient. X-ray study is only to be reserved to the few cases in which clinical and ultrasound data are doubtful and--in all instances--to rule-out other possible causes of gastric outlet obstruction. We report 20 infants (14 males and 6 females) referred with clinical suspicion of HPS. This diagnosis has been confirmed by ultrasound in 12 cases, suspected in 1 and excluded in 7 cases. Upper gastrointestinal tract series confirmed the presence of HPS in 13 cases; discovered a huge gastroesophageal reflux in one and showed normal findings in 6 cases.

Female↗

What happens to the pylorus after pyloromyotomy?

The rate of return to normal of the pylorus muscle in infantile hypertrophic pyloric stenosis was measured by ultrasound, using a simple pyloric volume calculation and a pyloric muscle index. The muscle hypertrophy took from two to 12 weeks to resolve.

Follow-Up Studies↗

[Proximal selective vagotomy with or without pyloroplasty?].

Proximal gastric vagotomy without drainage is the operation of choice for uncomplicated duodenal ulcer. There are few contraindications for PGV as uremia, diabetes, hypertension, age over 65 years and a history of splenectomy. Only in cases of severe pyloric stenosis or bleeding ulcer or perforation in the pyloric area, a pyloroplasty should be added. The Wangensteen pyloroplasty is a safe drainage procedure and especially recommended in case of extensive scarring of the pylorus.

Drainage↗

[IS IT POSSIBLE TO PREVENT CONGENITAL MALFORMATION?].

In the etiology of most congenital malformations one cannot incriminate a chromosomal aberration or a known teratogenic incident (infection or drug ingestion) during gestation. In cases of cleft lip and palate and of pyloric stenosis, the familial distribution of affected persons was shown to be explainable on the basis of partial genetic and partial environmental causation. Analysis of previously known data on the socioeconomic concomitants of severe congenital malformation showed that unsatisfactory living conditions are present in approximately one-half of the cases; it is suggested that the most fruitful approach to prevention lies in the direction of public hygiene.

Chromosome Aberrations↗