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Biomedical subjects

J T Boyle

Publications and source records attributed to J T Boyle.

At least 19 recordsLinked to original sources
PubMed1998

Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome.

A cytogenetically visible interstitial deletion of chromosome band 10q23 was found in a 6-year-old boy with mental retardation, dysmorphic features, and juvenile polyposis coli. In order to map this patient's deletion physically, we performed fluorescence in situ hybridization by using yeast artificial chromosomes (YACs) in the vicinity of the deletion. Five YACs that span an 11-15 cM region within the deletion were identified. This patient's deletion contains the putative locus for Cowden syndrome and a recently discovered candidate tumor suppressor gene (MMAC1 or PTEN) that has been implicated in the progression of a variety of human malignancies. Furthermore, the deletion is near and possibly overlaps a locus associated with juvenile polyposis. The findings in this patient with a constitutional 10q23 deletion raise the issue of whether there are separate genes in this region that are involved in Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, juvenile polyposis, and tumor progression, or whether all of these entities could be due to a single gene.

Child↗
PubMed1998

Liver transplantation for the treatment of urea cycle disorders.

The principal goal of therapy when liver transplantation is used for the treatment of metabolic disease is to correct the metabolic error. By doing so, liver transplantation eliminates the hepatic and peripheral consequences of the error. Inborn errors involving the urea cycle appear on theoretical grounds to be amenable to treatment using liver transplantation and, indeed, published data demonstrate that this approach to therapy can be successful. The purpose of this study is to examine the outcome of liver transplantation done for the indication of urea cycle defects in a large group of patients. The first goal of the study is to determine with certainty that liver transplantation corrects hyperammonaemia and halts the progress of disease. A second goal is to determine the extent of neurological recovery in children previously injured by hyperammonaemia. The final goal is to understand whether the quality of life is improved and medical expense is reduced by transplantation. The study involved a survey of major transplantation centres. Four centres provided data about 16 patients, 14 of whom were alive 11 months to 6 years after transplantation. The results demonstrate that liver transplantation resulted in correction of hyperammonaemia in all patients. The neurological outcome after transplantation correlated closely with the condition prior to transplantation. This population of patients has had relatively few problems in the long term related to the liver transplant itself. The quality of life seems to be much improved, but further study will be needed to confirm this. Limited data involving two patients show a reduction in the cost of care. We conclude from our experience that liver transplantation can be an effective treatment for children with urea cycle defects.

Amino Acid Metabolism, Inborn Errors↗
PubMed1997

Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity.

Byler disease (ByD) is an autosomal recessive disorder in which cholestasis of onset in infancy leads to hepatic fibrosis and death. Children who have a clinically similar disorder, but are not members of the Amish kindred in which ByD was described, are said to have Byler syndrome (ByS). Controversy exists as to whether ByD and ByS (subtypes of progressive familial intrahepatic cholestasis [PFIC]) represent one clinicopathological entity. The gene for ByD has been mapped to a 19-cM region of 18q21-q22. PFIC caused by a lesion in this region, including ByD, can be designated PFIC-1. Examination of haplotypes in siblings with ByS in two unrelated non-Amish families showed that the gene(s) responsible for their disorder(s) did not lie in the PFIC-1 candidate region. On light microscopy and transmission electron microscopy (TEM), liver tissue differed between Amish children with PFIC-1, who had coarsely granular bile and at presentation had bland intracanalicular cholestasis, and the children with ByS in the two non-Amish families, who had amorphous or finely filamentous bile and at presentation had neonatal hepatitis. Bile acid composition of bile also differed: In the Amish children with PFIC-1 and in one ByS family, the proportional concentration of chenodeoxycholic acid (CDCA) in bile was low compared with normal bile; in the other ByS family, it was only slightly reduced. Genetic analysis and light microscopy and TEM of liver may help distinguish PFIC-1 from other forms of ByS.

Bile↗
PubMed1997

Cholecystoappendicostomy in a child with Alagille syndrome.

The authors performed a partial biliary diversion on a 10-month-old child with Alagille syndrome using the appendix vermiformis as a conduit between the gallbladder and the abdominal wall skin. Three years later the patient is well, and his previously severe pruritus is controlled. The appendix has a lumen closer to that of the biliary tree, does not accumulate significant amounts of bile, and provides a smaller stoma. The small bowel is undisturbed, and there is less interference with a possible future liver transplant.

Alagille Syndrome↗
PubMed1997

Recurrent abdominal pain: an update.

RAP is a broad descriptive term commonly used in pediatrics to define a heterogeneous group of patients who experience episodic attacks of abdominal pain over a period of at least 3 months. The majority of patients who seek medical attention for RAP have a functional disorder thought to be triggered by a motility or sensory disturbance of the GI tract provoked by a variety of physical and psychological stimuli. There are three distinct clinical presentations of functional abdominal pain in children and adolescents: periumbilical paroxysmal abdominal pain, dyspepsia, and irritable bowel. The medical history, physical examination, and selected laboratory, radiologic, and endoscopic evaluations allow a positive diagnosis of a functional disorder in each type of clinical presentation.

Abdominal Pain↗
PubMed1996

Liver biopsy findings in patients with juvenile rheumatoid arthritis receiving long-term, weekly methotrexate therapy.

We performed percutaneous liver biopsy in nine children who had received a weekly dose of methotrexate, 10 mg/m2 per week, for at least 3 years to address the concern about subclinical liver toxicity from single, weekly, low-dose methotrexate therapy for juvenile rheumatoid arthritis. No patient had clinical or biochemical evidence of liver injury. All biopsy results were interpreted as normal. These results suggest that the recommendations of the American College of Rheumatology for adults receiving single weekly methotrexate therapy for rheumatoid arthritis can be extended to children.

Adolescent↗
PubMed1993

Bacterial peritonitis and sepsis presenting as acute gastrointestinal bleeding in patients with portal hypertension.

Four children with portal hypertension and ascites developed hematemesis, abdominal pain, and fever as the acute manifestations of bacterial peritonitis. Initial management in the emergency department was directed toward controlling the upper gastrointestinal hemorrhage, and antibiotic therapy was delayed in four of six episodes until ascitic fluid cultures grew Streptococcus pneumoniae. Gastrointestinal bleeding has not been previously reported as a presenting symptom of peritoneal infection. Our clinical experience emphasizes the need for antibiotic therapy during the initial management of children with ascites and hematemesis.

Acute Disease↗
PubMed1992

Relationship of common laboratory parameters to the activity of Crohn's disease in children.

The Pediatric Crohn's Disease Activity Index (PCDAI) has been proposed as a simple instrument to aid in the classification of patients by disease severity. The PCDAI includes subjective patient reporting of symptoms, physical examination, nutritional parameters, and several common laboratory tests (hematocrit, erythrocyte sedimentation rate, albumin). In this report we examine the relationship of each of the laboratory parameters to the PCDAI, as well as to a modified Harvey-Bradshaw Index score and physician global assessment of disease activity. Data were gathered from the clinical and laboratory observations from 133 children and adolescents at 12 pediatric gastroenterology centers in North America. A statistically significant relationship (p less than 0.05) was noted between each of the laboratory tests and the PCDAI for patients with either disease limited to the small bowel or in those with colonic involvement. For patients with disease limited to the small bowel, a statistically significant (p less than 0.05) relationship was also noted between the three laboratory parameters and the modified Harvey-Bradshaw Index and global assessment. For patients with large-bowel involvement, the erythrocyte sedimentation rate was statistically related to the modified Harvey-Bradshaw Index and global assessment (p less than 0.01), as was hematocrit to global assessment (p less than 0.01). Although the laboratory parameters used in the PCDAI appear to generally reflect disease activity in most patients, no single laboratory test is adequate to reflect disease activity in all patients. Future work will need to identify additional laboratory measures to reflect the inflammatory process and serve as important adjuncts in the assessment of disease activity.

Adolescent↗
PubMed1991

Development and validation of a pediatric Crohn's disease activity index.

Clinical and laboratory observations of 133 children and adolescents with Crohn's disease were used to validate an index of severity of illness previously developed by a group of senior pediatric gastroenterologists at a research forum in April 1990. This pediatric Crohn's disease activity index (PCDAI) included (a) subjective reporting of the degree of abdominal pain, stool pattern, and general well-being; (b) presence of extraintestinal manifestations, such as fever, arthritis, rash, and uveitis; (c) physical examination findings; (d) weight and height; and (e) hematocrit, erythrocyte sedimentation rate, and serum albumin. Independent evaluation of each patient by two physician-observers was performed at the time of a visit, and each physician completed a PCDAI index and a modified Harvey-Bradshaw index and made a "global assessment" of disease activity as none, mild, moderate, or severe. Excellent interobserver agreement was noted for the PCDAI, modified Harvey-Bradshaw index, and global assessment. There was a strong correlation between global assessment and both the PCDAI or modified Harvey-Bradshaw. Increasing PCDAI scores were noted with increasing disease severity, and significant differences in scores were noted between the severity groups. We propose that the PCDAI could be used in multicenter projects to facilitate patient stratification by disease severity and that longitudinal PCDAI scores might provide a numerical measure of response to therapeutic regimens.

Adolescent↗
PubMed1989

The "psychosomatic family" model: an empirical and theoretical analysis.

Evolution of the Family Systems Paradigm has been constrained by the dichotomy between theory building and empirical research. This article integrates these two domains by presenting a theoretical analysis of the "psychosomatic family" model as it informs and is informed by an empirical research project. Forty families of children with Crohn's disease (CD), ulcerative colitis (UC), and functional recurrent abdominal pain syndrome (RAP) were rated during standard, videotaped family interaction tasks, lunch, and interview. Laboratory scores of disease activity were associated with triangulation, marital dysfunction, and total "psychosomatic family" scores. Disease activity was not significantly correlated with enmeshment, overprotection, rigidity, conflict avoidance, or poor conflict resolution. Thus, the marital/triangulation and enmeshment/overprotection/conflict clusters may be subcomplexes of the "psychosomatic family" complex. CD, UC, and RAP groups differed in the relations among particular family patterns and disease activity. A heuristic family-psycho-somatic model is presented to facilitate future research.

Abdominal Pain↗
PubMed1989

Gastroesophageal reflux in the pediatric patient.

Gastroesophageal reflux in the pediatric patient is a functional disorder with unique clinical presentations and management issues compared with the same disorder seen in adults. The goal of this article is to critically review our present knowledge regarding pediatric gastroesophageal reflux and to provide some perspective on how to evaluate and manage the individual patient.

Apnea↗
PubMed1988

Esophageal motor abnormalities in children and adolescents with scleroderma and mixed connective tissue disease.

To determine the frequency and nature of esophageal motor abnormalities in children and adolescents with scleroderma syndromes and mixed connective tissue disease, esophageal manometry was performed on seven patients with progressive systemic sclerosis, four patients with mixed connective tissue disease, and two patients with linear scleroderma. A total of 73% of patients with progressive systemic sclerosis and mixed connective tissue disease had symptoms of esophageal dysfunction. A significant association between the presence of Raynaud phenomenon and esophageal symptoms was noted. Esophageal motor abnormalities were detected in 73% of patients with progressive systemic sclerosis and mixed connective tissue disease; these abnormalities were characterized by decreased lower esophageal sphincter pressure and abnormal peristalsis in the distal two thirds of the esophageal body. They resemble those described among adults with progressive systemic sclerosis and mixed connective tissue disease but were not related to disease duration or to the presence of Raynaud phenomenon. Patients with linear scleroderma did not have esophageal symptoms and demonstrated only nonspecific motor abnormalities that did not worsen during several years of follow-up.

Adolescent↗
PubMed1988

Sibling psychological status and style as related to the disease of their chronically ill brothers and sisters: implications for models of biopsychosocial interaction.

This study explores the relationship between disease type and disease activity, and the psychological status of siblings of chronically ill children. Closest-age siblings of children with Crohn's disease (CD) (n = 41) and ulcerative colitis (UC) (n = 24) were assessed for psychological disorder and psychological style, using reliable and standardized measures. The disease activity of the patients was also evaluated. Assessment occurred during outpatient visits to a pediatric gastroenterology division. Results indicated that CD siblings had more psychological disorder than UC siblings. This was not due to greater acute disease activity in the CD patients. However, as a group, siblings of the sickest CD patients displayed more "internalizing" behaviors, whereas siblings of the healthiest CD patients displayed more "externalizing" behaviors. UC siblings, who were psychologically healthier, displayed "externalizing" behaviors regardless of the patient's disease activity. These results are in accord with our previous findings on family functioning, which, together, yield a heuristic model representing the different patterns of biopsychosocial interaction for CD in contrast to UC.

Adolescent↗
PubMed1987

Pneumatic dilatation and operative treatment of achalasia in children.

The therapeutic approach to children with achalasia of the esophagus is controversial. Both pneumatic dilatation (PD) and Heller esophageal myotomy (EM) are considered effective, while bougienage has been discarded by most authorities. To determine the best place for each in the therapy of achalasia, 19 cases treated since 1964 were reviewed. Ages ranged from 9 months to 17 years (median 11 years), and duration of symptoms ranged from 4 months to 8 years (median 1 year). Three patients had symptoms from infancy. Two patients underwent a successful EM as their sole procedure. Two underwent bougienage as their initial therapy. Dysphagia recurred quickly and both required operation. Fifteen underwent PD under intravenous sedation with a Brown-McHardy dilator placed under fluoroscopy. Seven underwent a single dilatation; seven underwent two; and one underwent four. Relief of dysphagia was achieved in 11 patients, but four required surgery. The patients who experienced adequate relief with dilatation alone were clinically identical to those in whom it failed with respect to age, race, sex, symptom duration, and manometric data. Those who required EM following PD experienced only a brief period of relief following PD (median 1 month) compared with those who enjoyed lasting results (median 18 months). Three patients suffered prolonged chest pain or fever following PD, but without esophageal leakage and with full recovery. Two of eight operative patients developed late postoperative reflux. There were no deaths. Both PD and EM are safe and effective treatments for achalasia. Our results indicate that dilatation is the logical first therapeutic step, but rapid recurrence of symptoms may identify those patients who will require operative myotomy.

Adolescent↗
PubMed1987

Microdiverticulitis: a rare but distinct cause of small bowel obstruction in early infancy.

During a 20-year period, eight term infants admitted to a large children's hospital for treatment of dehydration associated with diarrhea (6) and vomiting (2), and who ranged in age from 10 to 60 days at onset of symptoms and 18 to 75 days at presentation, developed distal small bowel obstruction following apparently successful rehydration. With the exception of a single infant who was dead on arrival, and another whose obstruction went unrecognized, all infants came to operation shortly after obstruction was confirmed. In each case, a severely inflamed area of distal ileum (7) or proximal colon (1) was found at autopsy (2) or operation (6) to be the cause; perforation was present in four of the cases. Resection of the diseased segments of intestine, and primary anastomosis, were performed in all six operated cases; reoperation was required in four of the six for leaks (3) and adhesions (1). All but two survived. Pathologically, the resected intestinal segments showed a unique pattern of injury: numerous punctate ulcers were apparent, which undermined the muscularis mucosae, without evidence of necrosis. Regenerating epithelium extended through these defects, resulting in the presence of glandular invaginations, which were surrounded by a brisk inflammatory response: hence the term "microdiverticulitis." We believe this lesion represents a beginning or furtive attempt at repair of severely inflamed, but viable intestine, and that it is a rare but true cause of small bowel obstruction in early infancy, separate and distinct from necrotizing enterocolitis.

Diverticulitis↗