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This article examines and compares psychosocial characteristics across 2 samples of children with recurrent abdominal pain (RAP). A tertiary care sample (n = 39) and a community sample (n = 47) of children meeting established criteria for identifying RAP were compared. Multiple independent statistical comparisons suggested that the samples were similar across many dimensions, including parent- and child-rated child somatization, functional disability, and parent-rated child psychopathology. However, parents of children in the tertiary care sample rated their children as experiencing more severe pain currently as well as in the past 2 weeks. Furthermore, child-rated pain was significantly different across the samples, with children in the tertiary care sample reporting more frequent pain episodes, longer pain episodes, and more severe pain. Description of these sample characteristics helps to better understand important psychosocial similarities and differences between the two samples. The results are disc...

An Argentine male child died at 4.5 years of age of a lethal mitochondrial disease associated with a MELAS mutation and a Barth syndrome-like presentation. The child had severe failure to thrive from the early months and for approximately two years thereafter. In addition, the patient had severely delayed gross motor milestones, marked muscle weakness, and dilated cardiomyopathy that progressed to congestive heart failure. He also had persistently elevated urinary levels of 3-methylglutaconic and 2-ethylhydracrylic acids and low blood levels of cholesterol. Detailed histopathologic evaluation of the skeletal muscle biopsy showed high activity of succinate dehydrogenase, a generalized decrease of COX activity, and abundant ragged-red fibers. Electron microscopic studies revealed multiple mitochondrial abnormalities in lymphocytes and monocytes, in the striated muscle, and in the postmortem samples (muscle, heart, liver, and brain). Biochemical analysis showed a pronounced and constant lactic acidosis, and abnormal urinary organic acid excretion (unchanged in the fasting and postprandial states). In addition, in CSF there was a marked increase of lactate and beta-hydroxybutyrate (beta-HOB) and also a high systemic ratio beta-HOB/acetoacetate. Enzymatic assay of the respiratory chain in biopsied muscle showed 10% of complex I activity and 24% of complex IV activity compared with controls. Molecular studies of the mitochondrial genome revealed an A to G mutation at nucleotide pair 3243 in mitochondrial DNA, a well-known pathogenetic mutation (MELAS mutation) in all the patient's tissues and also in the blood specimens of the probands mother and sibs (4 of 5). The diagnosis of MELAS mutation was reinforced by the absence of an identifiable mutation in the X-linked G4.5 gene of the propositus. The present observation gives additional evidence of the variable clinical expression of mtDNA mutations in humans and demonstrates that all clinical variants deserve adequate investigation to establish a primary defect. It also suggests adding Barth-like syndrome to the list of phenotypes with the MELAS mutation.

We prospectively measured soluble interleukin-2 receptor levels in 56 premature infants with suspected sepsis and demonstrated significant differences between those with positive results on blood, urine, or cerebrospinal fluid cultures, and those with negative results. Soluble interleukin-2 receptor levels can be used to facilitate the diagnosis of sepsis in premature infants with negative blood culture results.

No enzyme replacement therapy exists for patients with congenital sucrase-isomaltase deficiency (CSID). A by-product of the manufacture of baker's yeast is a liquid preparation containing high sucrase activity. The aim of the present study was to investigate the activity and stability of this preparation and its effect on breath hydrogen excretion and gastrointestinal symptoms after sucrose ingestion in 14 patients with CSID.The homogeneity of yeast sucrase was studied by sodium dodecyl sulfate-polyacrylamide gel electrophoresis, and its activity was measured. Stability at various temperatures and pH ranges and in the presence of gastric aspirate, pepsin, and bovine serum albumin was assessed. Fourteen patients with CSID underwent double-blind placebo-controlled breath tests with yeast sucrase. They then completed an 8-week dose response study that used different enzyme concentrations while consuming a sucrose-containing diet.Liquid yeast sucrase is highly glycosylated, contains no lactase activity, and is stable at 4 degrees C and over a wide range of pH. Pepsin digestion of the enzyme in vitro can be blunted by bovine serum albumin and by increasing the pH. Yeast sucrase reduces breath hydrogen excretion in patients with CSID who are given a sucrose load (P0.001) and allows most patients to consume a sucrose-containing diet.Liquid yeast sucrase offers effective enzyme replacement therapy for patients with CSID.

We recently described a primitive swallowing reflex: swallowing as a response to a puff of air administered to the face. To identify the facial afferent distribution of this response, the necessary characteristics of the stimulus, and the role of the infant's antecedent behavior, we studied 13 infants who had demonstrated this reflex. We evaluated nine infants by clinically observing for swallowing in response to a total of 135 stimulus applications. All nine had consistently positive responses to the maxillary-ophthalmic area and to the maxillary-mandibular area. Two had consistent responses to stimulation of the mandibular area alone; these were positive. Six had consistent responses to stimulation of the ophthalmic area alone; these were negative. Four infants, evaluated by manometric documentation of swallowing (a total of 137 stimulus applications) demonstrated 47 of 79 (59%) positive responses to stimuli applied to facial areas including any parts of the lips, but only 7 of 28 (25%) positive responses to stimuli applied to facial areas excluding all parts of the lips (chi-square P = 0.002). Light touch to any facial area, including the cornea, failed to produce a swallow in any infant. Crying and sleep were incompatible with the reflex. This newly identified primitive swallow reflex seems to require diffuse stimulation, possibly thermal, to the perioral area of the face in an awake and noncrying infant.

Soluble interleukin-2 receptors (sIL2R) in plasma have been identified as a marker of lymphocyte activation. Lymphocyte activation as a manifestation of inflammation may be important in the pathogenesis of bronchopulmonary dysplasia (BPD). To test the hypothesis that infants with BPD have higher sIL2R levels, 12 infants with or at risk of developing BPD (GA +/- SD, 27 +/- 5 weeks; BW +/- SD 1,053 +/- 733 g) had plasma sIL2R levels determined and were compared to 20 infants being ventilated for respiratory distress syndrome (RDS) (GA +/- SD, 28 +/- 3.5 weeks; BW +/- SD, 1,133 +/- 390 g: P = NS for both GA and BW, t test). Tracheal aspirates in both groups were also analyzed for sIL2R levels. To control for the effects of postnatal age (PNA) and study weight (SW) on the sIL2R levels, another group of 16 nonventilated babies (NVB) had plasma analyzed for sIL2R (PNA +/- SD: 39 +/- 40 days NVB vs. 48 +/- 36 days BPD; P = NS); (SW +/- SD: 1391 +/- 250 g NVB vs. 1212 +/- 700 g BPD; P = NS). The following data were obtained for the plasma sIL2R levels (mean +/- SEM U/mL): RDS controls, 1,231 +/- 80; BPD infants, 1,790 +/- 120; NVB controls, 1,319 +/- 76; P = 0.0005 RDS vs. BPD and P = 0.002 BPD vs. NVB. There was no significant difference in the sIL2R levels for the infants at risk of developing BPD vs. the infants with established BPD. Also, when analyzed separately, infants at risk of BPD and the infants with established BPD had higher sIL2R levels than the RDS and NVB controls. No differences were noted in the tracheal sIL2R levels in the BPD vs. RDS groups. These data indicate that infants with BPD had significantly higher sIL2R levels in plasma than either RDS or NVB controls. Therefore, lymphocyte activation may play a role in the pathogenesis of BPD.

Dysphagia due to upper esophageal sphincter (UES) dysfunction can be a manifestation of Chiari malformation. We evaluated five young children with dysphagia and a Chiari malformation before and after craniocervical decompression. Preoperatively, esophageal manometry with a multilumen perfused catheter revealed failure of complete relaxation of the UES in three patients, pharyngo-UES incoordination in one patient, and both abnormalities in the last patient. Preoperative barium esophagograms were obtained in four of the patients and were normal in two. One patient had nasal regurgitation of barium and delayed passage of barium through the UES. One patient had a posterior pharyngeal impression (bar) at the level of the UES and delayed transit of barium. All patients had clinical and manometric resolution of UES dysfunction following surgical decompression of the Chiari malformation. All swallows were coordinated, and UES relaxations were complete. However, the posterior pharyngeal bar persisted on postoperative esophagogram in the only patient who had had the abnormality preoperatively, although it no longer interfered with passage of barium. Another patient had a narrowed UES with decreased relaxation. Swallowing was radiographically normal in three patients postoperatively. Conclusion: Surgical decompression of Chiari malformation may lead to complete clinical and manometric resolution of dysphagia due to upper esophageal sphincter dysfunction. Esophageal manometry is more likely than barium swallow to demonstrate the abnormality, and correlates better with symptomatic improvement postoperatively.

A boy with failure to thrive and isolated pancreatic amylase deficiency is described. Immunoprecipitation confirmed only salivary isoamylase in duodenal fluid at ages 20 and 33 months. Because normal pancreatic amylase messenger RNA was detected by reverse-transcriptase polymerase chain reaction in the fluid, failure of the normal maturation of pancreatic amylase secretion may explain the deficiency.

Serum concentrations of the soluble form of the interleukin-2 receptor (sIL-2R) were determined by an enzyme-linked immunosorbent assay in a group of 39 pediatric and adolescent patients with Crohn's disease and in age-matched ulcerative colitis patients and controls. sIL-2R levels were found to be elevated in patients with Crohn's disease (p less than 0.001), and increased sIL-2R levels were detected in patients with clinically more severe disease. sIL-2R levels correlated more closely with other laboratory markers of disease activity than with a disease activity score. A progressive increase in sIL-2R levels was noted to correlate with endoscopic measurement of disease extent, while sIL-2R levels did not correlate with other markers of systemic lymphocyte activation, suggesting possible local mucosal production. Sequential determinations in individual patients revealed a good correlation between sIL-2R and clinical course. More important, elevated levels of sIL-2R preceded clinical relapse of asymptomatic patients. We conclude that sIL-2R measurement may be a useful adjunct to clinical assessment and routine laboratory testing in pediatric and adolescent patients with Crohn's disease and that serial levels may be predictive of clinical course and the response to therapy.

Objectives: To examine psychosocial differences in diagnostic subgroups of children with recurrent abdominal pain (RAP). Methods: Children meeting Apley's 1975 definition of RAP were divided according to physician ratings into three subgroups, based on the Rome II diagnostic criteria of functional gastrointestinal disorders: functional dyspepsia (n = 17), irritable bowel syndrome (n = 18), and functional abdominal pain (n = 27). Groups were compared using measures of (a) child psychopathology, (b) parent psychopathology, and (c) child pain, somatization, and functional disability. Results: Multivariate results from a discriminant function analysis demonstrated that children classified according to these criteria could not be differentiated with respect to parent reported child psychopathology or child pain, somatization, and functional disability. There were significant univariate differences, however, between groups on parental psychopathology (F = 4.39, P = 0.02); parents of children with functional dyspepsia reported greater parental psychopathology symptoms than the other two groups. Conclusions: This study provides a preliminary comparison of pain, somatization, functional impact, and psychopathology ratings in the Rome II diagnostic subclassifications of children with RAP. Further investigation utilizing larger sample sizes, pain measures specifying pain location, and parental modeling of somatic behavior is indicated to better understand potential similarities and differences between these subgroups.

ObjectiveTo encourage treatment of depression and prevention of suicide in physicians by calling for a shift in professional attitudes and institutional policies to support physicians seeking help.ParticipantsAn American Foundation for Suicide Prevention planning group invited 15 experts on the subject to evaluate the state of knowledge about physician depression and suicide and barriers to treatment. The group assembled for a workshop held October 6-7, 2002, in Philadelphia, Pa.EvidenceThe planning group worked with each participant on a preworkshop literature review in an assigned area. Abstracts of presentations and key publications were distributed to participants before the workshop. After workshop presentations, participants were assigned to 1 of 2 breakout groups: (1) physicians in their role as patients and (2) medical institutions and professional organizations. The groups identified areas that required further research, barriers to treatment, and recommendations for reform.Consensus ProcessThis consensus statement emerged from a plenary session during which each work group presented its recommendations. The consensus statement was circulated to and approved by all participants.ConclusionsThe culture of medicine accords low priority to physician mental health despite evidence of untreated mood disorders and an increased burden of suicide. Barriers to physicians' seeking help are often punitive, including discrimination in medical licensing, hospital privileges, and professional advancement. This consensus statement recommends transforming professional attitudes and changing institutional policies to encourage physicians to seek help. As barriers are removed and physicians confront depression and suicidality in their peers, they are more likely to recognize and treat these conditions in patients, including colleagues and medical students.

Helicobacter pylori infection was identified in five patients with profound neurologic impairment who were undergoing evaluation for gastrointestinal symptoms, and it was subsequently identified in 7 of 61 patients with symptoms whose condition was evaluated prospectively. Institutionalized patients were at greater risk of infection. Treatment of H. pylori infection resulted in symptomatic improvement for the majority of patients. (J PEDIATR 1994;125:750-2)

Creatine and creatine phosphate act as a buffer system for the regeneration of ATP in tissues with fluctuating energy demands. Following reports of the cloning of a creatine transporter in rat, rabbit, and human, we cloned and sequenced a creatine transporter from a human intestinal cDNA library. PCR amplification of genomic DNAs from somatic cell hybrid panels localized two creatine transporter (CT) genes: CT1 to Xq26-q28 and CT2 to 16p11.2. Refinement of CT1 to Xq28 was confirmed by FISH. Identification of CT2 sequences in YACs and cosmid contigs that had been ordered on human chromosome 16 enabled its assignment to the proximal end of 16p11.2. Sequencing of the CT2 gene identified sequence differences between CT1 and CT2 transcripts that were utilized to determine that CT2 is expressed in testis only. CT2 is the most proximally identified gene on chromosome 16p to date. The existence of an autosomal, testis-specific form of the human creatine transporter gene suggests that creatine transporter activity is critical for normal function of spermatazoa following meiosis.

The detection of anti-neutrophil cytoplasmic antibodies (ANCA), in a perinuclear fluorescence pattern, in the serum of adults with inflammatory bowel disease has recently been described to be sensitive and specific for a diagnosis of ulcerative colitis in comparison to Crohn's disease and other colitides. We have examined the sera of 41 children and adolescents with ulcerative colitis, 27 with Crohn's disease, and a control group for the presence of ANCA. Anti-neutrophil cytoplasmic antibodies were detected in the serum of 27 of 41 patients with ulcerative colitis (66%), five of 27 with Crohn's disease (19%), and in none of our control subjects or patients with functional abdominal pain. Overall, the presence of ANCA was 66% sensitive and 84% specific for a diagnosis of ulcerative colitis when compared to Crohn's disease. There was no relationship between a positive ANCA value and disease activity or other clinical indicators. We conclude that evaluation for the presence of ANCA may be a useful adjunct for the clinical assessment of patients with inflammatory bowel disease. The presence of ANCA in children and adolescents, however, will not definitively distinguish between patients with ulcerative colitis and Crohn's disease.

Blastocystis hominis, a protozoan whose pathogenicity has been questioned, is sometimes found in the human gastrointestinal tract. We sought to determine the prevalence of Blastocystis in stool and to characterize clinical features of infection with Blastocystis in children. Forty-six (3%) of 1,736 patients undergoing fecal microscopy at Children's Hospital of Pittsburgh between January 1, 1985, and December 31, 1988, harbored Blastocystis. Of these 46 children, 75% had exposure to well water or had been in developing countries. Thirty-nine of the 46 (85%) experienced gastrointestinal symptoms, such as abdominal pain, diarrhea, vomiting, and weight loss. Blastocystis was the only parasite found in 35 of those 39 symptomatic children. Symptoms resolved within one month in 90% of patients receiving antiparasitic pharmacotherapy, but in only 58% (P

Idiopathic hypereosinophilic syndrome (IHES) is a heterogeneous group of disorders characterized by multisystem dysfunction and persistent, extreme eosinophilia of unknown cause. We describe a 9-1/2-year-old boy whose course included several unusual clinical features and terminated 2 years after diagnosis in acute lymphoblastic leukemia (ALL). Serial studies suggest that leukemia was not present earlier in his course. We speculate that this child may have had an evolving lymphoproliferative syndrome with a terminal blast crisis to which the eosinophilia was a nonmalignant leukemoid reaction.

Histology and/or culture are generally considered the gold standard for the detection of H. pylori infection. Especially in children, these tests may result in a false negative outcome because of patchy distribution of the organism in the stomach mucosa. We have developed a PCR assay utilizing nested primer pairs directed against a subunit of the H. pylori urease gene (ureA). As part of a prospective evaluation of diagnostic tests to aid in detecting H. pylori infection in children, the aim of this study was to compare our PCR and Western blot assays with results obtained from histologic examination of biopsy specimens, rapid urease tests, and an FDA approved serologic assay and published PCR results to determine if we could validate the assays for diagnostic use on our patient population. Gastric biopsy specimens obtained from 101 pediatric patients were evaluated for the presence of H. pylori using histologic techniques, rapid urease (CLOtest) test and the PCR assay. Serum samples from each patient were assayed using both ELISA and Western Blot for antibodies to H. pylori. A total of 32 patients tested were positive by at least one of the methods evaluated. Thirteen patients had positive histology, 13 had a positive CLOtest, and 17 patients had positive H. pylori PCR. Out of the 13 CLO positive patients, 12 were positive by histologic analysis and all 13 were positive by PCR. Results of serologic tests on the same population did not correlate well with other assays. Twenty-eight patients showed serologic evidence of H. pylori infection, of which 9 were both CLO and histology positive and 12 were positive by PCR. Of the seropositive patients, 26 were ELISA positive, 13 were positive by Western blot, and 11 by both serologic methods. The results obtained suggest that our nested PCR assay has the specificity and sensitivity necessary for clinical application when compared to standard histologic examination and rapid urease test. In addition, we found the current commercially available approved ELISA method appears unable to accurately detect H. pylori in this population. The Western blot assay yielded better concordance with CLOtest and histology, but not as good as the nested PCR assay.

Background We have previously reported that altered culture conditions (a broth media with shaking) could induce a strain of Helicobacter pylori to assume a long spiral morphology resembling that described for Helicobacter heilmannii. The present study was initiated to determine if other strains of H. pylori could be induced to assume that morphology and if doing so would alter the expression of immunodominant proteins.

Five pediatric patients with stridor were evaluated to determine whether gastroesophageal reflux (GER) contributed to their stridor. Intraluminal esophageal acid perfusion (Bernstein test), pH probe, radiographic studies, laryngobronchoscopy, and esophageal histology were utilized. Thereafter, three of the five patients responded to therapy for GER; two did not. The Bernstein test proved to have greater diagnostic reliability than any other test employed, using response to antireflux therapy as the "gold standard" for diagnosing reflux-provoked stridor.

ation as therapy in the management of patients with CGD. If the decision to a t tempt marrow transplantation is made, the transplant should be performed early in life, before the appearance of severe infections or irreversible tissue damage. During the intratransplant period, reactivation of bacterial or fungal infections resulting from the immunosuppressive therapy used before bone marrow transplantation can be avoided by assiduously searching for and treating infections before starting the preconditioning therapeutic regimen.

We have reviewed 53 cases of allergic disorders of the gastrointestinal tract in children, including 15 with principal effects in the rectum (allergic proctitis) and 38 with dominant involvement of the upper and mid portions of the gut (allergic gastroenteritis). Most cases of allergic proctitis had their onset at less than 6 months of age, and all were under 2 years old when they presented with rectal bleeding alone or in combination with diarrhea. Rectal mucosal biopsy revealed in most cases a diffuse increase of eosinophils in the lamina propria together with a focal infiltration of the epithelium by eosinophils. Cases of allergic gastroenteritis affected all age groups and had a lower frequency of overt rectal bleeding. More common were other symptoms (vomiting, pain, and weight loss), an allergic history, anemia, blood eosinophilia, and increased serum IgE. Mucosal biopsy abnormalities were present in the gastric antrum in all cases sampled, the small intestine in 79%, the esophagus in 60%, and the gastric corpus in 52%. The lesions were usually diffuse and marked in the antrum and esophagus; in contrast, they tended to be focal and mild in the small intestine and gastric corpus. All cases of proctitis responded to a dietary change by cessation of symptoms without recurrences, whereas most of those with gastroenteritis had multiple relapses and required corticosteroid therapy.

A puff of air administered to the face of 102 subjects (from 33 week's gestation on the first day of life to age 42 years) elicited a reflex swallow identical to a normal primary peristaltic sequence in 88. Subjects who responded were younger than 24 months of age or severely disabled neurologically; those who did not respond were older than 11 months and free of neurological abnormality. Response was variable between 11 and 24 months. This swallow response appears to be a clinically useful but previously unrecognised infant reflex.