bluuebunny/crossref_metadata_2025 huggingface dataset:
Portosystemic pressure gradient during transjugular intrahepatic portosystemic shunt with Viatorr stent graft: What is the critical low threshold to avoid medically uncontrolled low pressure gradient related complications?
Authors: Chung Hwan‐Hoon , Razavi Mahmood K , Sze Daniel Y , Frisoli Joan K , Kee Stephen T , Dake Michael D , Hellinger Jeffrey C , Kang Byung‐Chul
Published: August 2010

Background:  Inappropriately decreased portosystemic pressure gradient (PSG) during transjugular intrahepatic portosystemic shunt (TIPS) can cause fatal complications but the critical low threshold of PSG is still not clear. The aim of the present study was to evaluate the critical low threshold of PSG during TIPS.

Methods:  Sixty‐six patients with cirrhosis who successfully underwent de novo TIPS with Viatorr stent grafts were studied. Medically uncontrolled low pressure gradient (LPR) complication was defined as when a patient died, or when acute transplantation or a TIPS reduction procedure was performed due to refractory encephalopathy or the deterioration of hepatic function within 3 months after the procedure. For the determination of the risk group for medically uncontrolled LPR complications, the Child‐Pugh score and the model of end‐stage liver disease (MELD) score showing a 100% negative predictive value was decided on as a threshold for each score. The risk group was defined when either of both scores was higher than its threshold. For the determination of a critical low post‐TIPS PSG, a value of post‐TIPS PSG showing the highest discrimination power on the receiver operating characteristic (ROC) curve in the risk group was decided on as a critical low threshold of PSG. The medically uncontrolled LPR complication rates of the patients with the determined threshold or lower were evaluated for the risk group.

Results:  Medically uncontrolled LPR complications developed in nine patients (13.6%). Five patients died and four patients had TIPS reduction procedures. Patients with more than 10 on the Child‐Pugh score or more than 14 on the MELD score were determined to be the risk group and 34 patients were included. The critical lower threshold of the post‐TIPS PSG showing the highest discrimination power on the ROC curve was 5 mmHg (sensitivity 100%, specificity 72%), and the medically uncontrolled LPR complication rates of the patients with 5 mmHg or lower on the post‐TIPS PSG were 56.3% (9/16) in the risk group.

Conclusions:  The critical threshold of the post‐TIPS PSG to avoid the medically uncontrolled LPR complications of TIPS was >5 mmHg. The PSG should not be reduced below this level in the risk group.
Effect of small bowel obstruction on functional outcome and quality of life in patients with ileal pouch‐anal anastomosis: 10‐year follow‐up study
Authors: Erkek Ayhan B , Remzi Feza H , Hammel Jeffrey P , Akyuz Muhammet , Fazio Victor W
Published: August 2010

Background and Aim:  Postoperative abdominal adhesion formation is a troublesome clinical problem and a common cause of intestinal obstruction, chronic pain and infertility. The aim of this study was to evaluate the effect of small bowel obstruction (SBO) on functional outcome and quality of life (QOL) in patients who experienced ileal pouch‐anal anastomosis (IPAA).

Methods:  A total of 2418 patients who had undergone IPAA were categorized into three groups: group 1 comprised patients who had no SBO episodes until the last follow‐up; group 2 comprised patients who had one or more SBO episodes treated medically; and group 3 comprised patients who had one or more SBO episodes, at least one of which was treated surgically. Functional outcomes and QOL scores for patients in each group were evaluated at 1, 3, 5 and 10 years of follow‐up using multivariate analysis.

Results:  We found that patients who had SBO episodes which were treated medically were more likely to have a higher number of total bowel movements in a day in the first year of follow‐up compared to patients without postoperative SBO (P = 0.03), and more seepage during the day at 10 years follow‐up compared to patients with no SBO episodes or surgically treated SBO episodes (P = 0.01). The Cleveland Global Quality of Life (CGQL) scores were comparable between the three groups at 1, 3, 5 and 10 years of follow‐up.

Conclusion:  Medical management of SBO is associated with an increase in two symptoms, but QOL is comparable with surgical management.
Radiology of pancreatic adenocarcinoma: Current status of imaging
Authors: Sahani Dushyant V , Shah Zarine K , Catalano Onofrio A , Boland Giles W , Brugge William R
Published: August 2010

Pancreatic adenocarcinoma is one of the leading causes of cancer death in the West, with a poor overall 5‐year survival rate of only 4%. Late clinical presentation with an advanced disease results in a low rate of surgical intervention. Tumor serum marker CA 19‐9 is sensitive, although not specific for the diagnosis of adenocarcinomas of the pancreas. The treatment approach is based on whether the tumor is resectable or non‐resectable at presentation. Therefore, imaging plays a crucial role in the management of this disease. Many modalities are available to image the pancreas. They include non‐invasive techniques, like ultrasound, contrast‐enhanced multidetector computed tomography, magnetic resonance imaging and integrated positron emission tomography/computed tomography, and invasive techniques, like endoscopic retrograde cholangiopancreatography and endoscopic ultrasound. Each of these modalities has its peculiar strengths and weaknesses.
Diagnostic value of terminal ileum intubation during colonoscopy
Authors: Jeong Seong Hyun , Lee Kwang Jae , Kim Yeong Bae , Kwon Heok Chun , Sin Sung Jae , Chung Jae Yeon
Published: August 2010

Background and Aim:  Since the diagnostic value of ileoscopy is not well documented, it is uncertain if terminal ileum intubation should be performed routinely in patients undergoing colonoscopy. We aimed to assess the diagnostic yield of terminal ileum intubation during colonoscopy according to indications for colonoscopy.

Methods:  We routinely performed terminal ileum intubation in subjects who underwent colonoscopy at Ajou University Hospital between 1 January 2005 and 31 December 2005. Demographic data, indications for colonoscopy, endoscopic, and histopathologic findings of the terminal ileum were assessed.

Results:  A total of 3921 subjects underwent colonoscopy. The terminal ileum was successfully intubated in 3417 cases (87.1%). Macroscopic abnormality on terminal ileum was present in 125 cases (3.7%), and biopsies were taken for all of them. Clinically significant histopathology was observed in 11 cases, giving a 0.3% diagnostic yield in all ileoscopies. Seven out of 11 cases were diagnosed as Crohn's disease. The rate of diagnostic yield was 1.8% in patients with right lower quadrant (RLQ) abdominal pain and 0.4% in patients with diarrhea. This rate in cases with RLQ pain was significantly greater compared with the indications for medical check‐ups.

Conclusions:  Terminal ileum intubation during colonoscopy identifies significant pathology in 1.8% of cases who have RLQ abdominal pain, suggesting diagnostic value in this setting. However, its diagnostic yield is very low in other indications for colonoscopy. Thus the decision to perform ileoscopy or not during colonoscopy needs to be made on a case‐by‐case basis.
Relationship between meat and cereal consumption and colorectal cancer in Korea and Japan
Authors: Lee Sun‐Il , Moon Hong‐Young , Kwak Jung‐Myun , Kim Jin , Min Byung‐Wook , Um Jun‐Won , Kim Seon‐Han
Published: August 2010

Background and Aim:  The incidence of colorectal cancer in Asian countries is increasing. The change to a more westernized diet is known to be related to these increases, and there are reports on the relationship between meat consumption and colorectal cancer in Japan. The aim of this study was to investigate the relationship between dietary change and colorectal cancer in Korea and Japan.

Methods:  The data of meat and cereal consumption in Japan (1950–2002) and Korea (1970–2003), and the data of colorectal cancer incidence in Japan (1975–1998) and Korea (1992–2002) were investigated with a 20‐year difference between the two countries.

Result:  We found that the changes in meat and cereal consumption, as well as the increases in the incidence of colon and rectal cancer, were similar between those two countries with a 20‐year difference.

Conclusion:  These similarities between Korea and Japan could be helpful for predicting future colorectal cancer incidences for Korea and other Asian countries.
Expression of the transcription factor Klf6 in cirrhosis, macronodules, and hepatocellular carcinoma
Authors: Bureau Christophe , Péron JM , Bouisson Michèle , Danjoux Marie , Selves Janick , Bioulac‐Sage Paulette , Balabaud Charles , Torrisani Jérome , Cordelier Pierre , Buscail Louis , Vinel Jean Pierre
Published: August 2010

Background and Aims:  Macronodules (MN) occurring in cirrhosis are considered to be precursor lesions for hepatocellular carcinoma (HCC). However, early molecular events in hepatocellular carcinogenesis are poorly understood. The aim of this study was to compare gene expression profiling between cirrhotic tissues, MN, and HCC, to identify genes early involved in liver carcinogenesis.

Methods:  Tissues were obtained from explanted livers: nine cirrhosis, 10 MN, and seven HCC. Total RNAs were extracted by RNeasy and reverse transcribed with labelled [33P]‐αATP. Hybridations were performed on Atlas Human Cancer 1.2 membranes (1176 genes).

Results:  A two‐way hierarchical clustering algorithm successfully isolated specific gene expression profiles when comparing MN, cirrhosis, and HCC. A total of 16 and 14 genes were up‐ and down‐expressed, respectively, in HCC as compared to cirrhotic tissues. The molecular signature of MN was characterized by the down‐expression of 23 and 42 genes as compared to cirrhosis and HCC, respectively. Among them, Klf6 was down‐expressed in all MN samples whereas it was over‐expressed in cirrhosis and HCC. This result was confirmed at RNA level by quantitative real time–polymerase chain reaction and at protein level by Western blotting. However, no mutation in the exon 2 of Klf6 was detected.

Conclusion:  We identified a molecular signature of MN characterized by a down‐expression of several genes. One of them, Klf6 was found to be down‐expressed in all MN without evidence of somatic mutations in the exon 2. This gene could be involved at an early stage of hepatocarcinogenesis.
Lamivudine resistance and other mutations in the polymerase and surface antigen genes of hepatitis B virus associated with a fatal hepatic failure case
Authors: Bottecchia Marcelle , Ikuta Nilo , Niel Christian , Araujo Natalia M , Ó Kycia MR , Gomes Selma A
Published: August 2010

Background and Aim: Resistance to lamivudine therapy of chronic hepatitis B virus (HBV) infection occurs by mutation in the YMDD motif of the reverse transcriptase (rt) domain (rtM204V/I) of the virus polymerase, and is usually accompanied by rtL180M mutation. Here we investigated virological factors associated with hepatic failure in a 58‐year‐old male, chronically HBV‐infected patient who died after 33 months of lamivudine therapy.

Methods: Nucleotide sequencing was performed from one sample collected before and two samples collected during lamivudine therapy.

Results: A peak of alanine aminotransferase and aspartate aminotransferase levels occurred after 19 months of lamivudine treatment, associated with the rtM204I mutation. After 32 months, the rtM204V mutation was predominant, accompanied by the lamivudine‐resistant rtL180M mutation. Furthermore, two rare polymerase (rtS117Y and rtV142A) and three HBsAg (L109I, F134L, and I208T) substitutions were observed. At that time, the patient was hospitalized with hepatic decompensation, followed by hepatic failure, and died one month later. HBV‐DNA was detected at moderate levels (8.3 × 104−2.6 × 106 copies/mL) throughout.

Conclusion: The results suggest that substitutions in polymerase (rtS117Y, rtV142A) and surface antigens (L109I, F134L, and I208T), associated with lamivudine‐resistant mutations at positions 180 and 204, were involved in this case of fatal hepatitis B.
Asia‐Pacific consensus on the management of gastroesophageal reflux disease: Update
Authors: Fock Kwong Ming , Talley Nicholas J , Fass Ronnie , Goh Khean Lee , Katelaris Peter , Hunt Richard , Hongo Michio , Ang Tiing Leong , Holtmann Gerald , Nandurkar Sanjay , Lin San Ren , Wong Benjamin CY , Chan Francis KL , Rani Abdul Aziz , Bak Young‐Tae , Sollano Jose , Ho Lawrence KY , Manatsathit Sathoporn
Published: August 2010

Background and Aims:  Since the publication of the Asia‐Pacific GERD consensus in 2004, more data concerning the epidemiology and management of gastroesophageal reflux disease (GERD) have emerged. An evidence based review and update was needed.

Methods:  A multidisciplinary group developed consensus statements using the Delphi approach. Relevant data were presented, and the quality of evidence, strength of recommendation, and level of consensus were graded.

Results:  GERD is increasing in frequency in Asia. Risk factors include older age, male sex, race, family history, higher socioeconomic status, increased body mass index, and smoking. Symptomatic response to a proton pump inhibitor (PPI) test is diagnostic in patients with typical symptoms if alarm symptoms are absent. A negative pH study off therapy excludes GERD if a PPI test fails. The role for narrow band imaging, capsule endoscopy, and wireless pH monitoring has not yet been undefined. Diagnostic strategies in Asia must consider coexistent gastric cancer and peptic ulcer. Weight loss and elevation of head of bed improve reflux symptoms. PPIs are the most effective medical treatment. On‐demand therapy is appropriate for nonerosive reflux disease (NERD) patients. Patients with chronic cough, laryngitis, and typical GERD symptoms should be offered twice daily PPI therapy after excluding non‐GERD etiologies. Fundoplication could be offered to GERD patients when an experienced surgeon is available. Endoscopic treatment of GERD should not be offered outside clinical trials.

Conclusions:  Further studies are needed to clarify the role of newer diagnostic modalities and endoscopic therapy. Diagnostic strategies for GERD in Asia must consider coexistent gastric cancer and peptic ulcer. PPIs remain the cornerstone of therapy.
Effects of multistrain probiotic‐containing yogurt on second‐line triple therapy for Helicobacter pylori infection
Authors: Yoon Hyuk , Kim Nayoung , Kim Ji Yeon , Park So Youn , Park Ju Hee , Jung Hyun Chae , Song In Sung
Published: August 2010

Background and Aims:  The adjuvant effects of probiotic‐containing yogurt on second‐line triple therapy for Helicobacter pylori (H. pylori) infection have not been evaluated.

Methods:  A total of 337 patients with persistent H. pylori infection, after first‐line triple therapy, were randomly assigned to receive either triple therapy with (yogurt group, n = 151) or without (control group, n = 186) Will yogurt. Triple therapy consisted of 400 mg moxifloxacin q.d., 1000 mg amoxicillin b.i.d., and 20 mg esomeprazole b.i.d. for 14 days. Will yogurt contains Lactobacillus acidophilus, Lactobacillus casei, Bifidobacterium longum, and Streptococcus thermophilus. H. pylori eradication was evaluated by the 13C‐urea breath test, histology, or the rapid urease test.

Results:  The eradication rates by intention‐to‐treat analysis were 66.7% and 68.9% in the control and yogurt groups, respectively (P = 0.667). The eradication rates by per‐protocol analysis were 78.5% and 86% in the control and the yogurt groups, respectively (P = 0.110). The adverse event rates were 25.3% and 28.5% in the control group and yogurt group, respectively (P = 0.508).

Conclusions:  The addition of yogurt containing probiotics to moxifloxacin‐containing second‐line treatment neither improved H. pylori eradication rates nor reduced the adverse events of treatment.
Healthy range for serum ALT and the clinical significance of “unhealthy” normal ALT levels in the Korean population
Authors: Kang Hyun Seok , Um Soon Ho , Seo Yeon Seok , An Hyonggin , Lee Kwang Gyun , Hyun Jong Jin , Kim Eun Sun , Park Sung Chul , Keum Bora , Kim Ji Hoon , Yim Hyung Joon , Jeen Yoon Tae , Lee Hong Sik , Chun Hoon Jai , Kim Chang Duck , Ryu Ho Sang
Published: August 2010

Background and Aims:  It remains unclear whether the currently‐used normal range for serum alanine aminotransferase (ALT) levels really reflects a healthy liver. The present study was conducted to evaluate the healthy range of serum ALT in the Korean adult population and to determine the clinical significance of unhealthy levels.

Methods:  We reviewed the medical records, including questionnaires and the results of laboratory and radiological tests conducted at the Health Promotion Center at Korea University Anam Hospital between March 2005 and February 2007. The records, written in questionnaire form, included baseline data, such as physical status, social behaviors, medication history, and past and present disease histories.

Results:  The mean age of the 7403 enrolled patients was 48 years, and 49.9% of these patients were male. A healthy cohort was selected after excluding patients who showed any abnormalities of the factors that were significantly associated with the serum ALT level upon multivariate regression analysis. The upper limit of the healthy range of the serum ALT level (i.e. 95th percentile) in the healthy population was 31 IU/L for males and 23 IU/L for females. The prevalence of metabolic syndrome and insulin resistance (IR) were significantly higher in patients with an ‘unhealthy’ normal ALT level than in those with a healthy ALT level.

Conclusion:  In our study, the upper limit of the healthy range of the serum ALT level was 31 IU/L for males and 23 IU/L for females. An unhealthy normal ALT level was associated with a higher prevalence of metabolic syndrome and IR.
ERYTHROPOIESIS IN THE NEWBORN
Authors: CLARK A. C. L.
Published: August 2010

SYNOPSIS

It has been shown that the diminished erythropoiesis occurring during the period from a few days to about six weeks after birth is associated with the presence of an inhibitor of erythropoiesis in the urine of infants at this time. Suggestions that the inhibitor might be an oestrogen or related compound are not supported by the observations recorded in this paper.
ADIPOCYTE GROWTH IN THE FIRST 2 YEARS OF LIFE
Authors: BOULTON T. J. C. , DUNLOP MARJORIE , COURT J. M.
Published: August 2010

SYNOPSIS

Four patterns of fat cell size and population distribution have been described in subcutaneous adipose samples from normally nourished children up to 2 years of age. A population of foetal adipocytes with a modal value for cell diameter of 11 μ has been described which represents a fat cell with a lipid content of 5 μ 10‐4μ. Fat cells containing less than 0.01 μ of lipid have not previously been counted.
Prediction of outcome of preterm infants with severe bronchopulmonary dysplasia
Authors: GRAY P. H. , GRICE J. F. , LEE M. S. , RITCHIE B. H. , WILLIAMS G.
Published: August 2010

Abstract Forty‐four preterm infants of less than 30 weeks gestation and birthweight £ 1250 g, with severe bronchopulmonary dysplasia requiring mechanical ventilation for at least 28 days, were reviewed. Twenty‐seven infants (61%) survived; 17 died. There were no significant differences between survivors and non‐survivors with respect to birthweight, gestational age, sex, Apgar score at 5 min or pulmonary diagnosis. Non‐survivors displayed more severe changes on chest X‐ray than the survivors. Peak inspiratory pressure (PIP), ventilator rate (VR), ventilator index and mean airways pressure were significantly higher in the non‐surviving infants on days 2, 3, 4, 7, 14, 21 and 28, with non‐survivors also having significantly higher alveolar‐arterial oxygen gradients and lower arterial‐alveolar oxygen ratios than the survivors. Discriminant analysis with cross‐validation by pairing PIP and VR on day 28 produced a positive predictive value for non‐survival of 88% and a negative predictive value of 89%. This result was better than was obtained for any other pair of ventilator parameter or oxygenation index. Discriminant analysis by combining X‐ray appearances with ventilator settings did not improve the prediction. Having established a statistical model based on the PIP and VR of ventilator‐dependent preterm infants on day 28, the outcome can be predicted with a high degree of confidence. This has the immediate potential application of indicating to staff in the neonatal unit a realistic approach to take when counselling parents of these infants.
Kawasaki disease in Adelaide: A review
Authors: SMITH P. K. , GOLDWATER P. N.
Published: August 2010

Abstract The role of Kawasaki disease (KD) as a contributor to early childhood cardiac morbidity in Adelaide was investigated by a review of hospital admission and case‐note data from January 1979 to June 1990. There were 57 episodes in 55 patients. The epidemiological data in this South Australian series are similar to that seen in other Australian and New Zealand centres and correlate better with the clinical data from North America than from Japan. The average age of admission was 3.2 years (median 2.7 years) with 38 and 85% of cases being less than 2 and 5 years respectively. The male to female ratio was 1.5. The incidence of KD in the 0–5 year age group was 3.9 cases per 100000 children. This series represents a minimum number of cases for this period and illustrates an association of aneurysm‐risk with prolonged fever, improved defervescence with the combination of intravenous γ‐globulin (IVGG) and aspirin compared with aspirin alone; and a more severe disease process in the very young. The series supports the efficacy of single dose IVGG therapy. Antibiotics were given prior to diagnosis of KD in 79% of patients, often causing diagnostic confusion with possible drug reactions. The pathogenic mechanisms of KD are reviewed and a new hypothesis is proposed that incorporate mechanisms of vessel pathology resulting from release of endothelin and recognized mediators of endothelial damage including tumour necrosis factor‐α and interleukin‐1β.
Mental retardation, macrostomia and hyperpnoea syndrome
Authors: SINGH H. A.
Published: August 2010

Abstract A syndrome with the triad of abnormalities of mental retardation, wide mouth and intermittent overbreathing is described, which has all the features of the syndrome previously described by Pitt and Hopkins.1 Pitt and Hopkins published two cases that bear close resemblance to each other, each having an abnormal respiratory rhythm. Both had an unusually wide mouth and palate, thick fleshy lips, broad‐beaked nose, finger clubbing and abnormal electroencephalograms. This paper discusses a client living in a hostel for intellectually handicapped people who has all these features.
Assessment of short stature in very low birthweight children
Authors: DOYLE L W. , FORD G. W. , ABADILLA B. , WARNE G. L. , CALLANAN C.
Published: August 2010

Abstract  The aims of this study of short very low birthweight (VLBW) children at or after 8 years of age were to determine: (i) if there were any unsuspected organic causes for their growth failure; and (ii) whether any children might be suitable for treatment with synthetic growth hormone. Thirty‐seven of 195(19%) VLBW children seen at 8 years had heights <10th centile, and of these only 40% (10/25) of families offered an assessment were concerned enough to have the child fully evaluated. No child had an unsuspected organic cause of short stature. The children's parents were significantly shorter than expected for Caucasians (mean parental height s.d. score =– 1.06 (s.d. 0.72), t=– 5.9, P<0.001). On average, the bone age of the short children was delayed by 14.9 months (s.d. 18.8 months) compared with chronological age ((=–3.4, P<0.01). When compared with their parents, the children's mean height s.d. score for their bone age was not significantly different (mean height s.d. score for bone age = ‐ 0.83 (s.d. 1.3), t= 0.6, NS). Only three children qualified for treatment with synthetic growth hormone; all three had been small for gestational age at birth and had birthweights <1000 g. In conclusion, in short VLBW children, only a minority of families and children are likely to be concerned enough about short stature to be fully assessed; an unsuspected organic cause for growth failure is unlikely, and only a few will qualify for synthetic growth hormone therapy.
Has the prevalence of asthma symptoms increased in Australian children?
Authors: BAUMAN A.
Published: August 2010

Abstract  This paper estimates whether an increase has occurred in the prevalence of asthma symptoms and diagnosed asthma in Australian children over the past two decades. Seventeen population‐based studies undertaken in Australia since 1969 were reviewed. Inclusion criteria were studies using population samples of children aged 5–12 years, with standardized questionnaire measurements. Data from serial National Health Surveys were also examined for trends in recent and chronic asthma.

The prevalence of recent (12 month) and cumulative wheeze increased, showing a significant correlation with year of study (r = 0.78 and r = 0.79, respectively). Diagnosed asthma showed a smaller but still significant increase (r = 0.65). The trends observed indicated that diagnosed asthma and reported wheeze have increased by almost 1% per year over the past two decades. Data since 1980 have provided estimates of bronchial hyperreactivity (BHR), but no trend was observed. Substantial increases were noted in the National Health Surveys, with recent asthma prevalence in children aged 5–14 increasing from 3.3% in 1983 to 8.3% in 1989, and chronic asthma prevalence increasing from 4.5% in 1977 to 15.2% in 1989. The findings of this review suggest an increase in the prevalence of asthma symptoms in children, but these observations could also be explained by changes in diagnostic fashion and an increased awareness of asthma symptoms.
Paediatricians' reports to general practitioners: Should parents receive copies?
Authors: CLARKSON J. E. , MERRICK P. L.
Published: August 2010

Abstract  The aim of this study was to determine whether it was helpful for parents to receive a copy of the letter written by the paediatrician to the general practitioner (GP) when a child was referred to a paediatric outpatient department for the first time or with a new problem. A randomly allocated sample of 40 intervention patients and 49 comparison patients was seen 2–4 weeks following the consultation in a semi‐structured home interview conducted by a researcher who did not know the group allocation.

Although significant differences in parent knowledge were not detected, parent satisfaction with the consultation was improved. No parent reported being upset or worried by the contents of the letter, and none of the paediatricians required extra time to explain aspects of the letter in an additional consultation, although the possibility of this was offered. There seem to be advantages in sending a letter copy to parents of children presenting with a wide range of conditions.
Molecular characterization of /3‐thalassaemia in Singaporean Chinese: Application to prenatal diagnosis
Authors: TAN J. A. M. A. , TAY J. S. H. , KHAM S. , CHIN T. M. , WONG H. B. , LAI P. S.
Published: August 2010

Abstract  Sixty‐five j3‐thalassaemia genes from 14 unrelated Chinese /3‐thalassaemia major patients and 37 Chinese /3‐carriers were analysed by allele‐specific oligonucleotide (ASO) hybridization after DNA amplification by the polymerase chain reaction (PCR). Six mutations were studied and are represented by 49.2% of codon 41 ‐42, 30.8% of IVSII #654, 6.2% of 17)3, 3.1 % of IVSI #5 (G – C) and 1.5% of ‐ 28 TATA box. The complete mutations responsible for /3‐thalassaemia major in 13 of our 14 affected families were identified. For these families prenatal diagnosis at 10 weeks gestation using DNA amplification and ASO hybridization will replace the globin chain biosynthesis technique at 19 weeks gestation. Using ASO analysis, our results indicate that 5 oligo‐probes (41 ‐42, ll‐#654,170, IVSI‐#5 and – 28) allow determination of /3‐thalassaemia mutations in 59/65 (90.8%) of the Singaporean Chinese studied.
Williams syndrome: A clinical study of children and adults
Authors: NICHOLSON W. R. , HOCKEY K. A.
Published: August 2010

Abstract: Eighteen individuals in Western Australia with Williams syndrome were surveyed. Nine were adults. The majority (72%) presented initially because of developmental delay. The diagnosis was made at an average age of 35 months and in over half the cases was made by general paediatricians. Two‐thirds of those surveyed had a significant cardiac murmur and eight had features of supravalvular aortic stenosis. Reduced peripheral circulation was found in 22%. One half had mild musculoskeletal abnormalities, joint contractures being the most common. Chronic or recurrent urinary symptoms were present in one‐third of cases. Adults tended to be on a lower height centile and were more obese compared to children. The early diagnosis of Williams syndrome remains elusive. A wide range of complications may develop.
Colloid cyst of the 3rd ventricle as a cause of acute neurological deterioration and sudden death
Authors: OPESKIN K. , ANDERSON R. McD. , LEE K. A.
Published: August 2010

Abstract  A 13 year old girl presented with a 24 h history of headache and vomiting. There were no focal neurological signs. The diagnoses considered were vascular headache, meningitis and subarachnoid haemorrhage. Lumbar puncture revealed clear cerebrospinal fluid under high pressure and subsequent cerebral computed tomography (CT) scan revealed hydrocephalus. Death occurred some hours after the lumbar puncture. Autopsy revealed a colloid cyst of the 3rd ventricle causing the hydrocephalus. Cerebellar tonsillar herniation was present.

This case is reported because although 3rd ventricular colloid cysts are a recognized cause of acute neurological deterioration and sudden death, they rarely present in childhood. In this case, it is considered that lumbar puncture may have hastened death by increasing brain‐stem compression due to cerebellar tonsillar herniation. It raises the question of whether cerebral CT scan, where readily available, should be performed prior to lumbar puncture. Pathologically, colloid cysts may be easily missed if the brain is examined fresh as the cysts are fragile and have a tendency to be destroyed or fall out.
Psychosocial impact of chronic illness in children
Authors: NORTHAM EA
Published: August 2010

Abstract: Chronic illness is common in childhood and is associated with an increased risk of psychological difficulties in the child. Current research is focused on the identification of specific risk and protective factors that may predict psychological and health outcomes. The challenges faced by physicians caring for a child with chronic illness are described and contrasted with the medical role in treating acute illness. The child's adaptation to illness is discussed in a developmental framework and positive and maladaptive family responses are identified. It is suggested that chronic illness and/or its treatment may compromise intellectual development and academic progress.
Paediatric HIV update
Authors: ZIEGLER JB , PALASANTHIRAN P
Published: August 2010

Abstract: Less than half of the paediatric HIV infections recorded in Australia have resulted from perinatal transmission, but in recent years this has been the predominant mode of infection. There are 136 infants who are known to have been exposed perinatally to HIV in Australia: 49 of these are infected. Caesarean section is thought now not to reduce the risk of perinatal transmission (PNT); rather, the risk increases with duration of membrane rupture and rises rapidly after 4 h of membrane rupture. However, no data exist to show that interventions to expediate delivery after membrane rupture reduce the risk of PNT. Data such as these suggest that the majority of perinatal infections (probably about 60%) occur close to the time of delivery. While the overall risk of PNT for non‐breast fed infants is approximately 20–25%, the risk of infection for the infant is considerably increased when there is evidence of increased maternal viral burden. Advanced maternal disease predicts that if the infant is infected there is more likely to be early progression of HIV than is the case for the less frequently infected infants of mothers who are asymptomatic. Bottle feeding may prevent infection of 10% of children exposed perinatally. Use of zidovudine by the mother in the third trimester and i.v. zidovudine during labour, followed by oral zidovudine for the infant for 6 weeks can reduce the PNT rate by two thirds, to about 8%. Approximately 3% of uninfected infants with perinatal HIV exposure may be found to be transiently virus positive but eventually become antibody negative and thus appear to have eliminated the virus. The risk of Pneumocystis carinii pneumonitis (PCP) cannot be predicted on the basis of CD4 count and it is recommended that all children of infected mothers commence PCP prophylaxis around the age of 6 weeks‐2 months and continue that therapy until the age of 12 months or until it becomes clear that the infant is uninfected. The cumulative risk of AIDS increases rapidly during the first year of life to about 20%, then more slowly at a rate of about 2 or 3% a year. The shape of this curve reveals the bimodal progression of HIV disease in children. About 15–20% of children rapidly develop a severe immune deficiency, opportunistic infections and, in most cases, encephalopathy. There is a very high morbidity rate in this group of children, most of whom die before the age of 3 or 4 years. In contrast, 80–85% of children only become immunodeficient after a relatively long period, which is similar to or perhaps even longer than that in adults. Recent studies indicate that zidovudine antiviral monotherapy is no longer appropriate. While no clear alternative to monotherapy has emerged most would, wherever possible, commence antiretroviral therapy with a combination of two or three drugs including zidovudine plus didanosine or lamivudine. If a third drug is used it would probably be a protease inhibitor.
Discrimination of attention deficit hyperactivity disorder by the continuous performance test
Authors: LEVY F , HOBBES G
Published: August 2010

Objective: To investigate the Continuous Performance Test in discriminating a group of 56 attention deficit hyperactivity disorder (ADHD) children from 56 school children individually matched for age, sex and social class.

Methodology: The children all completed the Continuous Performance Task (CPT). The mothers and teachers completed a Conners' Parent‐Teacher Rating Scale for the clinic children.

Results: The ADHD sample was selected so that the average IQ was 99.8 to match the school sample. A non‐parametric discriminant function showed that the subtests of the CPT that best discriminated ADHD were age‐normalized errors of commission (NCPTC) and age‐normalized mean reaction time (NMNRT).

Conclusion: Optimal use of the CPT for discrimination of ADHD should include age normalization and mean reaction time to targets. Further evoked potential studies may show brief cortical events involved in reaction time over the course of the CPT, and the processes involved in behavioural control.
Improvement in outcome of children with Wilms' tumour in South Australia over the last 30 years
Authors: SPURRIER NJ , TOOGOOD I , BYARD R , MORRIS L , RICE M , SAWYER MG
Published: August 2010

Objective: To evaluate the outcome of children with Wilms' tumour over the last 30 years in South Australia. To compare the outcome of children treated before and after 1982, when standard treatment protocols were introduced.

Methodology: Management approaches, survival rates and side‐effects of treatment were identified from case notes. Pathology slides were reviewed to ensure all children were correctly diagnosed with Wilms' tumour.

Results: Children treated for Wilms' tumour prior to 1982 had an overall survival rate of 54%. Since 1982 there has been a significant improvement in outcome and the current survival rate is now 85%. Children treated since 1982 have also experienced fewer treatment related side‐effects than children treated prior to 1982.

Conclusions: There has been substantial improvement in survival from childhood Wilms' tumour over the past 30 years in South Australia. This is likely to be due to a combination of factors including standardization of treatment, tailoring of treatment to stage and histology, improved perioperative care, enhanced radiological techniques and higher levels of collaboration between relevant specialists.
Chronic oxygen dependency in infants born at 24–32 weeks' gestation: The role of antenatal and neonatal factors
Authors: TODD DA , JANA A , JOHN E
Published: August 2010

Objectives:To study the incidence of chronic oxygen dependency (COD) among ventilated survivors born at 24–32 weeks gestation from 1986 to 1994 and to identify antenatal and neonatal factors that may have changed with time; and to identify antenatal and neonatal factors that could contribute to the development of COD in infants born at 24–32 weeks gestation using a case control model.

Methodology:Infants born at 24–32 weeks gestation in one tertiary referral centre between 1986 and 1994 and admitted to the neonatal intensive care unit for respiratory support were studied. Data accumulated prospectively since 1986 in survivors of ventilation were analyzed to identify antenatal and neonatal factors that could have changed with time. The cohort of infants who developed COD were matched for gestation and time of birth with a control group of infants who did not have COD. Significant factors that could have contributed to the development of COD were identified using forward logistic regression analysis.

Results:The number of mothers admitted for threatened premature labour (TPL), and pregnancy induced hypertension decreased with time while the use of antenatal steroids and maternal antibiotics increased. More infants were delivered by Caesarean section during the later years. There was an increase in neonatal septicaemia with time while there were decreases in hyaline membrane disease, pneumothorax, pulmonary interstitial emphysema, use of high peak inspiratory pressures (PIP) and high inspired oxygen. The incidence of COD decreased. The case controlled study revealed a significant positive association between COD and male gender, birthweight less than the 10th percentile for gestation, PIP over 30 cm H2O, septicaemia and significant patent ductus arteriosus (PDA) requiring indomethacin. There was a negative association with TPL.

Conclusions:Further decrease in COD can be achieved only if septicaemia, PDA and the use of high PIP can be avoided. The most effective way of reducing the incidence of COD is by reducing the incidence of prematurity.
The seasonal distribution of infant deaths by age: A comparison of sudden infant death syndrome and other causes of death
Authors: SPIERS PS , GUNTHEROTH WG
Published: August 2010

Objective: To examine the possibility that among deaths in infancy the increase in the winter/summer ratio with increasing age is not peculiar to sudden infant death syndrome (SIDS).

Methodology: Details of the winter (December‐February)/summer (June‐August) ratio among deaths in neonates (<28 days) and post neonates dying in the United States of America between 1979 and 1990 were abstracted from published statistics. The primary causes of death were classified according to the ninth Revision of the International Classification of Diseases.

Results: For every non‐traumatic cause of death including SIDS, the winter/summer ratio was higher among postneonates than neonates. This was not seen for deaths due to trauma. Cases of SIDS and deaths due to infection had the highest ratios in both age categories. Causes of death occurring predominantly in the neonatal period (e.g. anencephaly) had the lowest overall ratios.

Conclusions: Neither the greater number of SIDS cases in the winter, nor the increasing winter/summer ratio with increasing age is unique to SIDS.
Vascular air embolism: A rare complication of nasal CPAP
Authors: WONG W , FOK TF , NG PC , CHUI KM , TO KF
Published: August 2010

Abstract: A preterm infant developed bilateral tension pneumothoraces and extensive vascular air embolism 6 h after being commenced on nasal continuous positive airway pressure (CPAP). Neonatal clinicians should be aware that catastrophic vascular air embolism could occur in infants receiving nasal CPAP, a modality of respiratory support conventionally considered non‐invasive and ‘safe’.
Wheezy swallow: Poorly responsive ‘Asthma’
Authors: Kwok Samson C , O'Loughlin Edward V , Kakakios Alyson M , Van Asperen Peter P
Published: August 2010

Abstract:  We report two children who presented with cough and wheeze, were initially misdiagnosed with asthma and were subsequently demonstrated to have achalasia as the underlying cause of their symptoms. These cases highlight the importance of considering diagnoses other than asthma when there is a suboptimal response to asthma medications, as well as the value of investigations including chest X‐ray and pulmonary function tests in establishing the underlying cause.
Upper airway size while sucking on a pacifier in an infant with micrognathia
Authors: Tonkin Shirley L , Vogel Sally A , Gunn Alistair J
Published: August 2010

Abstract:  In an infant with micrognathia, who was being evaluated after an apparent life‐threatening event, respiration timed lateral radiographs showed an increase in the width of the middle airway space during inspiration from 2 mm without the pacifier to 9 mm while sucking on a pacifier. This observation is consistent with the hypothesis that the well‐documented association between the pacifier use and reduced risk of sudden infant death syndrome may be at least in part related to changes in airway size.
Cytomegalovirus‐associated ileal stricture in a preterm neonate
Authors: Srinivasjois Ravisha M , Kava Maina P , Thomas Anitha , Rao Shripada C
Published: August 2010

Abstract:  Gastrointestinal (GI) manifestations of post‐natally acquired cytomegalovirus (CMV) in preterm neonates can vary from mild diarrhoea to severe necrotising enterocolitis. However, the suspicion of CMV‐related GI disease remains low. Mild CMV disease localised to the GI tract may go undiagnosed initially until a more obvious complication such as strictures manifest. A case of CMV‐associated enteritis in an extremely preterm neonate is presented. The diagnosis was established after the histopathology of the surgical specimen showed the presence of CMV inclusion bodies. Testing the stool specimen for CMV to establish the diagnosis when the pathology is limited to the GI tract is also discussed.
Proposed new target height equations for use in Australian growth clinics
Authors: Hughes Ian P , Davies Peter SW
Published: August 2010

Equations for target height estimation designed for easy use in the Australian growth clinics are presented that are based on the standard deviation score method of Hermanussen and Cole. These equations are superior to the commonly used corrected midparental height method as they account for assortative mating and regression to the mean. Simulations using different mating types were performed to compare different methods of target height estimation. While the equations relate directly to growth charts used in Australia, it is noted that neither account for the secular increase in height observed from generation to generation.
Two‐year‐old boy with cervical and liver abscesses
Authors: Fehon Rebecca , Mehr Sam , La Hei Erik , Isaacs David , Wong Melanie
Published: August 2010

Pyogenic liver abscesses are rare in children but relatively common in those with chronic granulomatous disease (CGD). We present a case of a 2 year old boy who initially presented with BCGitis and Staphylococcus aureus cervical adenitis, and then subsequently developed liver abscesses. A diagnosis of X‐linked CGD was confirmed. This case demonstrates the typical radiological features of liver abscesses in CGD, its management without surgical intervention, and the increasingly recognised complications of BCG vaccination in CGD.
‘I enjoy teaching but . . .’: Paediatricians' attitudes to teaching medical students and junior doctors
Authors: Peadon Elizabeth , Caldwell Patrina HY , Oldmeadow Wendy
Published: August 2010

Aim:  To explore consultant paediatricians' attitudes, motivations, and barriers to training medical students and junior doctors.

Methods:  Qualitative research involving 24 paediatricians (with a diversity of specialties, experience, age, gender, teaching activity and employment status) from a tertiary paediatric hospital and clinical school in Sydney, Australia. Participants were engaged in semi‐structured focus group discussions which explored their attitudes to teaching medical students and junior doctors, their role and experience of teaching, their training in medical education, perceived barriers to teaching, and possible solutions to these barriers. Data from the transcriptions of the focus group discussions were coded using the constant comparative method and analysed for themes using NVivo 7 software. Differences in responses between participants were explored.

Results:  All participants reported enjoying teaching. However, a number of factors which occurred at the consultant, learner and institution level affected the enjoyment or challenge of teaching. Consultant factors included time commitments, knowledge of and confidence in the learner's course, and comfort with teaching. Learner factors included level of knowledge, attendance, interest and enthusiasm, and cultural changes. Institution factors included acknowledgement of teaching contribution, communication, teaching support and resources, and attitude to teaching. These factors and the consultant's relationship with the learner and institution impacted on their ownership, involvement, and commitment to teaching.

Conclusions:  Consultant paediatricians identified challenges to their involvement and commitment to teaching. Actions to address these challenges and improve the relationship between the consultant and the learner and the consultant and the institution may enhance the consultant's commitment to teaching.
LEUCOCYTE COUNT AND NEUTROPHIL PERCENTAGE IN APPENDICECTOMY FOR SUSPECTED APPENDICITIS
Authors: Lau W. Y. , Ho Y. C. , Chu K. W. , Yeung C.
Published: August 2010

The total leucocyte count (tlc) and neutrophil percentage (np) were studied prospectively in 1032 patients who underwent appendicectomy for suspected acute appendicitis. On histopathological study of the resected appendices, 97 patients had normal appendices, and 935 patients had acutely inflamed, gangrenous or perforated appendicitis. Statistically more patients with appendicitis had either raised tlc or raised np compared with patients with normal appendices (p < 0.001), and also compared with 357 patients who were admitted with right lower quadrant abdominal pain but were not subjected to operation (p < 0.001). The sensitivity and specificity of raised tlc in diagnosing appendicitis for patients who underwent appendicectomy were 81.4% and 77.3%, respectively. Sensitivity increased when either raised tlc or raised np were used, but specificity decreased. In contrast, sensitivity decreased when both raised tlc and raised np were used together, but specificity increased. Raised tlc, preferably combined with raised np, is a useful diagnostic aid in acute append citis. The tlc and np, however, should only be interpreted in the light of physical findings in patients with suspected appendicitis because these blood tests have false positive and false negative results.