Chun-Yan Yeung

Meta-analysis: the clinical features of the duodenal duplication cyst.

BACKGROUND Duplication cyst of the duodenum is rare. This study describes a case of duodenal duplication and evaluates its clinical features through a literature review. METHODS A case of duodenal duplication is reported, and related articles published from 1999 to 2009 on PubMed were reviewed. Clinical manifestations, diagnostic examinations, and methods of management were analyzed. RESULTS Including this report, there had been 38 citations in literature that provide adequate descriptions of 47 cases of duodenal duplication cysts. Nineteen (40.4%) were discovered before 10 years of age, whereas 10 (21.3%) were found in the second decade. The remaining 18 patients (38.3%) were older than 20 years. The case number decreased as age increased. Overall, 80% of cases presented with abdominal pain, and 53% were complicated with pancreatitis. CONCLUSIONS The most common symptom in duodenal duplication cysts is abdominal pain with or without nausea or vomiting. The most common complication is pancreatitis. Differential diagnoses of pancreatitis, hepatitis, cholestasis, or intussusception should include duplication cyst of the duodenum.

Sepsis during total parenteral nutrition : exploration of risk factors and determination of the effectiveness of peripherally inserted central venous catheters

BACKGROUND Sepsis is the most frequent serious complication during total parenteral nutrition (TPN), resulting in increased morbidity, mortality and health care costs. Existing reports have not documented the risk factors of sepsis during TPN. The objectives of this study were to determine the rate of sepsis in our practice and to explore the risk factors for sepsis during TPN. We also determined the role and efficacy of using peripherally inserted central venous catheters (PCVC) as insertion catheters to administer TPN. METHODS From October, 1994, to May, 1996, we administered TPN to 378 pediatric patients hospitalized at Mackay Memorial Hospital. We followed all cases for the occurrences of any complications while administering TPN. We studied all patients who had fever, a clinical presentation of sepsis and a positive blood culture during their course of TPN. RESULTS During the 20-month period 378 patients received TPN for a total of 6562 days. Fifty-six patients presented with clinical sepsis and positive blood cultures. Significant features in the sepsis group included longer duration of TPN, age < 3 months, usage of central venous catheters, gastrointestinal diseases as indication for TPN, low birth weight and short gestational age in prematurity. Seven patients died despite prompt antimicrobial therapy. One hundred eleven patients received TPN via PCVC for a mean duration of 17.1 days, significantly longer than 10.4 days in the peripheral intravenous catheter group but no difference between the sepsis rates. CONCLUSION Considering the high incidence of sepsis during TPN, every attempt should be made to minimize the length of TPN therapy and encourage early enteral feeding. We also recommend the use of PCVC in patients requiring prolonged nutritional support.

Pancreatitis in children - experience with 43 cases

Pancreatitis in children is not common and can be associated with severe morbidity and mortality. We encountered 43 children, ranging in age from 2 to 18 years, with pancreatitis over the past 10 years. The diagnosis of pancreatitis was made in those patients who showed: (1) significant intra-operative pathology or; (2) clinical findings of pancreatic inflammation and laboratory confirmation. More than one third (16 cases) of the cases were due to trauma, other causes included systemic disease (10), structural disease (8), and toxins or drugs (4). Five cases were classified as idiopathic. Most of the patients presented with abdominal pain (95%) and vomiting (56%). Jaundice was found in 7 patients and an abdominal mass in 2. Morbidity included pseudocyst (10), relapse (4), hyperglycaemia (4) and miscellaneous problems. Eight (50%) of the patients with trauma and 6 (86%) of the patients with structural diseases required surgery. Other patients were managed conservatively with bowel rest, gastric decompression, intravenous fluid and total parenteral nutrition. One case had a fatal outcome. All the survivors did well in long term follow up. Relevant literature has been reviewed and the sensitivity of various diagnostic modalities compared and discussed. A lesser known association between pancreatitis and structural anomalies such as choledochal cyst is discussed. To our knowledge, the present review is the first on pancreatitis in Chinese children.ConclusionPancreatitis can occur from a wide variety of causes and may result in severe complications. Early diagnosis, close monitoring and aggressive intervention are mandatory to reduce morbidity and mortality.

Genetic Variation in the Vascular Endothelial Growth Factor Gene is Associated With Biliary Atresia

Background and Goals: Biliary atresia (BA) is a chronic inflammatory disease of the bile ducts resulting in biliary cirrhosis. Vascular endothelial growth factor (VEGF) has been implicated in cell-mediated inflammatory reactions. We aimed to study the relationship between genetic variations of the VEGF gene and susceptibility to BA using both case-control and family-based methodologies. Study: A total of 45 Taiwanese children with BA, 160 ethnically matched healthy controls, and 40 families (consisting of parents, affected children, and unaffected siblings) were studied. Three functional VEGF polymorphisms (−2578 A/C, −634 G/C, and +936 C/T) were assessed by using TaqMan assay. Results: The +936 CC genotype [odds ratio (OR) 3.51, 95% confidence interval 1.54-8.01, Pc=0.006] and C allele (OR 3.19, 95% confidence interval 1.48-6.90, Pc=0.004) were significantly associated with increased risk of BA. The association of the +936 C allele with BA was also confirmed in a family-based association study (OR 5.7, χ2=9.8, Pc=0.005). None of the haplotypes studied significantly influenced the risk to BA in either the case-control or family data sets. Conclusions: The VEGF +936 C/T polymorphism and particularly the C allele are associated with BA, possibly conferring increased susceptibility to the disease.

Free amino acids in full-term and pre-term human milk and infant formula

Objective: Although the nutritional value of human milk has been thoroughly studied, few reports describing its free amino acid (FAA) content have been published. Although infant formulas are designed to approximate the nutrient composition of human milk, the content and concentration of free amino acids are unknown. We compared the FAA concentrations of milk from mothers of preterm and full-term infants with those in several infant formulas. Method: Human milk was obtained during three different stages of lactation (colostral, transitional and mature milk). Sixty-seven samples were collected from 44 healthy mothers of term infants and 23 mothers of premature infants 29 to 36 weeks gestation (mean 33 weeks). Two brands of powdered term formula (TF-A and TF-B) and two brands designed for preterm infants (PTF-A and PTF-B )were also studied. Ion exchange chromatography was used for free amino acid analysis. Results: The mean concentration of total FAA in human milk was significantly higher than any of the infant formulas (8139 μmol/L for pre-term human milk; 3462 μmol/L for full term human milk; TF-A, 720 μmol/L; TF-B, 697 μmol/L; PTF-A, 820 μmol/L; PTF-B, 789 μmol/L) (P <0.01). FAA concentration in term and premature human colostral milk was significantly higher than in human transitional and mature milks (P <0.01). In comparing individual FAAs, there were significant differences in concentrations between term human milk and preterm milk except for phosphoethanolamine, hydroxyproline, asparagine, and α-amino-η-butyric acid. There were significant differences in all FAA concentrations between all human milks and infant formulas (P <0.05), but no significant differences were found among the study formulas. Conclusion: The concentration of FAA is high in human colostral milk and decreases through the transitional and mature milk stages. FAA is higher in all human milks than in infant formulas.

A Twenty-year Review of Early and Late-presenting Congenital Bochdalek Diaphragmatic Hernia: Are They Different Clinical Spectra?

BACKGROUND Congenital Bochdalek diaphragmatic hernia (CDH) is easily recognized if it is present shortly after birth. However, cases of delayed CDH presentation are more subtle and therefore less easily diagnosed. METHODS We retrospectively analyzed 85 patients who were under 18 and diagnosed with CDH between June 1987 and May 2007. Those diagnosed before 1 month of age were categorized as having early-presenting CDH and those diagnosed after 1 month were categorized as having late-presenting CDH. RESULTS Of the 85 cases, 68 (80%) were early-presenting and 17 (20%) were late-presenting CDH. Respiratory symptoms were more common in early-presenting CDH, while gastrointestinal complaints were more dominant in the late-presenting group, particularly in patients with left diaphragmatic defects. Late-presenting CDH, which was more likely to be associated with chronic gastrointestinal symptoms, was associated with a lower mortality than acute early-presenting CDH with respiratory symptoms, despite the more prompt diagnosis of the latter. The small bowel was the organ most commonly herniated into the thorax. Congenital heart disease was the most commonly associated malformation, but the presence of associated anomalies did not increase mortality. CONCLUSION Early-presenting CDH shows acute symptoms, is readily diagnosed, and requires prompt intervention to prevent death. In contrast, late-presenting CDH shows more subtle symptoms and is more difficult to diagnose. Although the late-presenting CHD has better prognosis, it still requires surgery intervention to alleviate the symptoms. Clinicians must maintain a high index of suspicion for CDH, regardless of its presentation.

Neonatal gastric perforation: report of 15 cases and review of the literature.

BACKGROUND Gastric perforation among neonates is a rare but frequently fatal condition of uncertain etiology. The aim of this study was to review the clinical course of neonatal gastric perforation and to evaluate possible prognostic factors. METHODS We retrospectively analyzed the medical records of 15 patients with neonatal gastric perforation over a 19-year period. Another 97 patients described in the medical literature, for whom the gestational ages and birth weights were clearly stated, were also reviewed. RESULTS In our series, there were three girls and 12 boys, nine of whom were full-term infants and six preterm infants. The most common initial manifestations were poor activity, abdominal distension, and respiratory distress. The overall mortality was 47% (7/15). Prematurity was the only statistically significant risk factor; 83% (5/6) of premature infants died compared with 22% (2/9) of term babies (p < 0.05). Combining our series with the patients reported in the literature, there were a total of 50 premature infants and 62 term infants. Gastric perforation occurred on postnatal days 2-7 and presented with nonspecific manifestations. The mortality was significantly higher in premature than in term infants (31/50, 62% vs. 16/62, 26%; p < 0.001). A trend towards higher mortality in infants with lower birth weights was observed (>2500 g, 28%; 1501-2500 g, 52%; 1000-1500 g, 60%; <1000 g, 100%). Infants with birth weights <2500 g had a significantly higher mortality than infants with birth weights >2500 g (32/58, 55% vs. 15/54, 28%; p<0.05). CONCLUSION Neonatal gastric perforation is associated with high mortality, particularly in premature infants. There is also a trend towards higher mortality in lower-birth-weight infants.

Usefulness of Magnetic Resonance Cholangiopancreatography in Pancreatobiliary Abnormalities in Pediatric Patients

BACKGROUND Magnetic resonance cholangiopancreatography (MRCP) is an innovative and noninvasive technique for evaluating the biliary tree and pancreatic duct in children. The aim of this study was to assess the usefulness of MRCP as a noninvasive method to evaluate the biliary system in children. METHODS We retrospectively reviewed the records of patients undergoing MRCP between October 2002 and May 2007 for suspected biliary system abnormalities. MRCP findings were compared with other imaging modalities, operative findings, and clinical endpoints. RESULTS Complete data were available for 60 patients (35 girls, 25 boys; mean age 2 years, 33 children less than 1 year old). Ultrasound was performed in all 60 patients. Twenty-two patients had choledochal cyst, and 19 had a thin or invisible gall bladder. Endoscopic retrograde cholangiopancreatography was done in two patients. The sensitivities and specificities of MRCP for diagnosing choledochal cyst and biliary atresia were 100.0% and 100.0% and 86.7% and 100.0%, respectively. Surgery was performed in 37 patients, including 21 with a choledochal cyst, 14 with biliary atresia, and 1 with a pancreatic duct stone. CONCLUSION MRCP is useful method for evaluation of the pancreaticobiliary system in pediatric patients. It yields a high degree of accuracy in the diagnosis of biliary atresia and choledochal cyst.

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family

The autosomal recessive form of type II cutis laxa (ARCL II) is characterized by the appearance of redundant, inelastic skin with wrinkling, an aged look and additional variable systemic involvement including intrauterine growth retardation, failure to thrive, developmental delay, dysmorphism, osseous abnormality, and CNS manifestations. Several genetic defects have been found in patients and families with the clinical manifestations of ARCL II. Recently, mutations in PYCR1 have been linked to cutis laxa with progeroid features. We ascertained two siblings with of ARCL II born to non‐consanguineous parents. Mutation analysis of PYCR1 revealed a novel single‐base deletion (c.345delC) in exon 4 leading to frame‐shift and premature stop of translation. The effect of this mutation results in a strong reduction of PYCR1 expression in skin fibroblasts from affected siblings. These two cases extend the genotypic spectrum of PYCR1‐related ARCL II.

Gastro-intestinal bleeding caused by leiomyoma of the small intestine in a child with neurofibromatosis.

Abstract Gastro-intestinal bleeding is an uncommon presentation in children with neurofibromatosis. Gastro-intestinal involvement caused by jejunal leiomyoma has only been described in adults. To the best of our knowledge, this is the first paediatric case of jejunal leiomyoma associated with neurofibromatosis. We present a 10-year-old girl with a 9-month history of anaemia and low gastro-intestinal bleeding. Abdominal sonography and small bowel series showed a submucosal mass in the proximal jejunum. On surgery, a submucosal tumour was excised and histological examination suggested a diagnosis of “smooth muscle tumour of undetermined malignant potential”. There were no recurrence of symptoms for 4 years after the operation. Conclusion Jejunal leiomyoma should be considered in a child with neurofibromatosis presenting with gastro-intestinal bleeding.