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Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region.

A genetic component in the aetiology of infantile pyloric stenosis (PS) is well established. Segregation analysis is compatible with a multifactorial sex modified threshold model of inheritance but a major gene of low penetrance has not been excluded. PS has been reported to occur in 57% (four of seven) of cases with duplication of chromosome 9q11-q33. Twenty families with PS were studied using genetic markers at loci D9S55, D9S111, D9S15, D9S12, D9S56, D9S59, and ASS from this region of chromosome 9. Pairwise lod scores of -2 were obtained with all these markers at recombination fractions greater or equal to 0.04 under both autosomal dominant and autosomal recessive models of inheritance. This provides evidence against the existence of a major locus predisposing to PS within chromosome 9q11-q33.

Chromosomes, Human, Pair 9↗

Pyloric stenosis in the Oxford Record Linkage Study area.

The files of the Oxford Record Linkage Study were employed to identify 220 infants presenting with infantile hypertrophic pyloric stenosis (IHPS) in the 6-year period 1966 to 1971. Information on these infants was obtained from birth certificates and maternity notes. The overall incidence was 2.5 per 1000 livebirths. There was a distinct seasonal variation, with highest incidence to infants born in the third quarter of the year as well as variation in incidence with area: the cities had much lower rates of IHPS than the adjacent rural or small urban areas. It was shown that the rates in the south and east of the area studied were far greater than in the north and west. In the present study there was no excess of primiparae, the peak maternal age group was 20 to 24; there was a slight excess of parents of social classes I and II; and a significant association with mothers who were Rhesus negative. The rate of IHPS among sibs was 85 per 1000. Though there was the usual correlation with the male sex (M:F ratio = 5.5:1), there was no variation with birthweight and only among the females was an association found with prolonged gestation. There appeared to be an inverse relation between gestation and age on admission to hospital.

Adult↗

Pseudohypoaldosteronism with pyloric stenosis--a patient report.

A 53 day-old infant was referred for failure to thrive and persistent vomiting with severe dehydration. He had hyponatremia and hyperkalemia. Pyloric stenosis was diagnosed by means of sonography. Poor weight gain, hyponatremia and hyperkalemia were still found after Fredet-Ramsted pyloromyotomy. A urinary tract infection, a high urinary Na+/K+ ratio, and high serum levels of aldosterone and renin were found at the second admission. Rehydration, hydrocortisone and florinef administration failed to correct hyponatremia and hyperkalemia, suggesting pseudohypoaldosteronism. This patient gained weight after treatment of his infection and salt replacement.

Aldosterone↗

Alterations in serum electrolytes in congenital hypertrophic pyloric stenosis: a study in Nigerian children.

This is a retrospective analysis of serum electrolyte values recorded at presentation in 20 infants who had pyloromyotomy for congenital hypertrophic pyloric stenosis (CHPS) during a 5-year period at Ahmadu Bello University Teaching Hospital, Zaria, Nigeria. All patients showed disturbance of the normal serum electrolyte pattern which, with one exception, was characterized by metabolic alkalosis associated with normal potassium levels in cases presenting early and metabolic alkalosis with hypokalaemia in cases presenting 3 weeks or later from the onset of symptoms. Late presentation of CHPS occurred much more frequently in this series than is reported from Europe and America.

Electrolytes↗

Gastric emphysema in infants with hypertrophic pyloric stenosis.

Gastric emphysema in unusual in infants and children. Air in the wall of the stomach can rarely occur in children with gastric outlet obstruction due to hypertrophic pyloric stenosis. The clinical features and radiographic appearance of this association are described in three infants, and the value of the lateral radiograph is illustrated. The differential diagnostic considerations, importance of correct radiologic diagnosis and results of proper therapy are discussed.

Emphysema↗

Long-term analysis of ultrasonic features of the antropyloric region 17-27 years after treatment of infantile hypertrophic pyloric stenosis.

Long-term follow-up was performed 17 years to 27 years after conservative (n = 12) and operative (n = 36) treatment in 48 patients with infantile hypertrophic pyloric stenosis (IHPS). The follow-up examination included an interview to define any existing gastrointestinal symptoms and to determine whether a current disorder of the gastrointestinal tract was present; a clinical examination, including a scintigraphic determination of gastric emptying; as well as--for the first time--abdominal sonography emphasizing the antropyloric region. The sonographical examination included measurements of pyloric diameter and length, as well as wall and muscle thickness in the antropyloric region. The results were compared with data from a control group with the same age and gender distribution. No association was found between the sonographic parameters obtained, reported gastrointestinal symptoms, or altered gastric emptying times for solids and liquids. Clinically relevant disorders of stomach motility after IHPS appear to be a rare occurrence.

Adolescent↗

A quantitative study of the morphological and histochemical changes within the nerves and muscle in infantile hypertrophic pyloric stenosis.

PURPOSE: The aim of this study was to quantify changes in dimensions of nerves and muscle and the proportionate expression of neural antigens in infantile hypertrophic pyloric stenosis (IHPS). METHODS: Twenty specimens of pylorus from children with IHPS and age/sex-matched controls were examined using conventional histology and immunohistochemistry for a range of nerve and muscle antigens. The changes in the proportion of nerves expressing each antigen were quantified and statistically analyzed. RESULTS: The longitudinal muscle was found to be hypertrophic and protein gene product 9.5-stained nerves appeared longer and thicker in the myenteric plexus and shorter in the longitudinal muscle layer in IHPS. The proportion of nerves that expressed neural nitric oxide synthase (nNOS) was found to be diminished in all the IHPS tissues examined. In the circular muscle and myenteric plexus, the proportion of nerves that expressed vasoactive intestinal polypeptide (VIP) and nNOS was almost identically diminished. The expression of calcitonin gene-related polypeptide and substance P was proportionately reduced in the myenteric plexus. CONCLUSIONS: The results of this study represent the first quantitative analysis of nerves and muscle in IHPS. The muscle hypertrophy is not restricted to circular muscle layer. The changes in nerve morphology cannot be attributed to a dilutional effect of the muscle hypertrophy. The selective changes in nerve and ganglion morphology varies between tissue layers and neural antigen expressed. The findings of reduced proportions of nerves expressing, in particular, nNOS may shed some light on the etiology of this condition.

Antigens↗

Laparoscopic pyloromyotomy for hypertrophic pyloric stenosis: impact of experience on the results in 182 cases.

BACKGROUND: There has been discussion about the value of laparoscopic pyloromyotomy (LP) for the treatment of hypertrophic pyloric stenosis (HPS). In their initial small series, the authors reported a relatively high complication rate. The current study was undertaken to investigate the influence of experience with LP on operative time, complication rate, and postoperative hospital stay for a large number of patients. METHODS: Between October 1993 and March 2002, 182 children underwent LP for HPS. These procedures involved 11 surgeons, 4 consultants, and 7 trainees. The end points of the study were operative time, complications, and postoperative hospital stay. The outcome of 146 LPs performed after July 1996 was compared with the outcome of 36 LPs performed before that period. RESULTS: There was no significant difference in the mean operative time between the two series, but the operative time per surgeon dropped with experience. Mucosal perforation was experienced by 8.3% of the patients in the initial series, as compared with 0.7% in the later series. Insufficient pyloromyotomy occurred in 8.3% of the initial series, as compared with 2.7% of the later series. Other minor complications such as wound infection were infrequent and not influenced by further experience. Major wound-related problems did not occur. The LP procedure was easily learned by novices. After about 15 pyloromyotomies, the operative time was approximately 25 min. The length of postoperative hospital stay also dropped with increasing experience. CONCLUSIONS: The value of LP for the treatment of HPS has been proved. The LP procedure is as quick as the open procedure, has a low morbidity, and is devoid of major wound-related problems. Moreover, the procedure seems to be well teachable.

Clinical Competence↗

Some epidemiological aspects of pyloric stenosis in British Columbia.

The records of an ongoing Health Surveillance Registry that utilizing multiple sources of ascertainment were used to study the incidence rate of infantile hypertrophic pyloric stenosis (IHPS) in liveborn children in British Columbia during the period 1966--1977 inclusive. The incidence was 4.6 male/1,000 livebirths and 1.2 females/1,000 livebirths, giving a male to female ratio of 3.1 to 1. No significant overall incidence variations with time could be shown during the study period. There was suggestive evidence of independent sex-incidence variation in different geographical regions, which clearly warrants further investigation.

British Columbia↗

Intrathoracic gastric volvulus mimicking pyloric stenosis.

A 5-week-old-infant presented to hospital following the acute onset of non-bilious vomiting with clinical and acid-base features suggestive of pyloric stenosis. A chest radiograph obtained because of intercurrent infection unexpectedly revealed a left-sided congenital diaphragmatic hernia. A barium meal demonstrated the presence of an intrathoracic gastric volvulus, requiring urgent surgical management. We discuss the presentation and management of this rare surgical cause of non-bilious vomiting in infancy.

Abdomen, Acute↗

Infantile hypertrophic pyloric stenosis: a study of feeding practices and other possible causes.

We carried out a case-control study of the hospital charts of 91 infants with infantile hypertrophic pyloric stenosis (IHPS) to determine the feeding practices at the time of discharge from the neonatal nursery. We excluded infants whose feeding might have been influenced by confounding factors. The infants were matched with controls for gestational age. The mean birth weight of the IHPS group was 3501 g and of the control group 3543 g. The male:female ratio for the IHPS group was 5.5. The odds ratio of male predominance was 4. We found that bottle-feeding was 2.9 times more prevalent among the infants with IHPS than among the control subjects. We speculate that the recently observed decrease in the incidence of IHPS is due to the decline in bottle-feeding.

Birth Weight↗

Endoscopic pyloromyotomy for congenital pyloric stenosis.

BACKGROUND: The advent of sophisticated endoscopic devices allows for a variety of procedures heretofore performed surgically. This study describes the results of endoscopic pyloromyotomy for congenital hypertrophic pyloric stenosis (CHPS). METHODS: Ten consecutive infants (7 boys, 3 girls; age range 3-7 weeks), with a diagnosis of CHPS, underwent endoscopic pyloromyotomy while under conscious sedation by using an endoscopic electrosurgical needle knife or a sphincterotome. Incisions were made from the antral to the duodenal side of the pylorus. All procedures except one were performed on an outpatient basis. RESULTS: No complication was encountered in any patient. All patients began regular feedings as soon as they recovered from the effects of the sedative medication and were discharged on the same day. At follow-up (range 6 months to 2 years), all patients were doing well. CONCLUSIONS: Surgery for CHPS has undergone little change in recent decades except for the advent of the laparoscopic approach. Surgical pyloromyotomy is considered simple, inexpensive, and safe. Endoscopic pyloromyotomy is equally simple, probably less expensive, and it can be performed as an outpatient procedure.

Electrosurgery↗