Paediatric bladder augmentation and substitution: From diversions to tissue engineering

OBJECTIVES:

To review the evolution of urinary diversion, bladder augmentation and bladder replacement in the paediatric population over the past century and to outline the possible direction of future management.

DATA SOURCES:

Original and review articles obtained from a PubMed search of English language publications dating from 1970 to 2001. The search terms were “bladder augmentation”, “bladder substitution”, “bladder autoaugmentation”, “ureterocystoplasty” and “bladder engineering”. The age group was “all child 0-18”.

DATA SELECTION:

Articles selected were those with relevance to the scope of the topic.

DATA EXTRACTION:

The articles were analyzed with the primary focus being the problems encountered with various forms of urinary diversion, bladder augmentation and bladder replacement, and the subsequent evolution of materials and techniques.

DATA SYNTHESIS:

Bladder tissue may need to be replaced in the paediatric population because of congenital malformation, disease or trauma. The unique structure and function of urothelium and bladder muscle make this a challenging task. Management has evolved from a mindset of attempting to divert urine from the bladder completely to that of trying to preserve what is salvageable of the organ. Historically and contemporarily, the gastrointestinal tract has provided the raw material for urinary diversion, bladder augmentation and bladder substitution. Experience, however, has highlighted the potential complications inherent in the use of the bowel in the urinary tract including mucus production, stone disease, metabolic abnormalities, growth retardation, spontaneous perforation and malignancy. However, despite these drawbacks, the bowel is the gold standard in terms of functional utility and longevity. In efforts to develop alternatives, research has focused on the use of both natural and synthetic materials. With these materials, a whole new list of potential problems has been characterized. Tissue engineering may hold promise in resolving the issues of bladder replacement or repair by providing the necessary biocompatible raw material.

CONCLUSIONS:

Bowel segments have been and continue to be the clinically most useful material for urinary diversion, bladder augmentation and bladder replacement. Complications associated with the use of bowel in the urinary tract have prompted considerable research into alternative materials and methods.     

Sudden infant death syndrome and sleeping position in pre-term and low birth weight infants: an opportunity for targeted intervention

Aims

To determine the combined effects of sudden infant death syndrome (SIDS) risk factors in the sleeping environment for infants who were “small at birth” (pre‐term (<37 weeks), low birth weight (<2500 g), or both).

Methods

A three year population based, case‐control study in five former health regions in England (population 17.7 million) with 325 cases and 1300 controls. Parental interviews were carried out after each death and reference sleep of age matched controls.

Results

Of the SIDS infants, 26% were “small at birth” compared to 8% of the controls. The most common sleeping position was supine, for both controls (69%) and those SIDS infants (48%) born at term or ⩾2500 g, but for “small at birth” SIDS infants the commonest sleeping position was side (48%). The combined effect of the risk associated with being “small at birth” and factors in the infant sleeping environment remained multiplicative despite controlling for possible confounding in the multivariate model. This effect was more than multiplicative for those infants placed to sleep on their side or who shared the bed with parents who habitually smoked, while for those “small at birth” SIDS who slept in a room separate from the parents, the large combined effect showed evidence of a significant interaction. No excess risk was identified from bed sharing with non‐smoking parents for infants born at term or birth weight ⩾2500 g.

Conclusion

The combined effects of SIDS risk factors in the sleeping environment and being pre‐term or low birth weight generate high risks for these infants. Their longer postnatal stay allows an opportunity to target parents and staff with risk reduction messages.     

Life and death decisions in the extremely preterm infant: What happens in a level III perinatal centre?

OBJECTIVE:

To describe resuscitation decisions and withdrawal of treatment practices in live-born infants at the extremes of prematurity at St Joseph’s Health Care (London, Ontario).

STUDY DESIGN:

A retrospective chart review was conducted on all neonatal deaths between 22 weeks, zero days’ and 25 weeks, six days’ gestational age over an eight-year period. Documentation concerning end-of-life discussions was subjected to thematic review to limit or withhold resuscitation or withdraw treatment.

RESULTS:

Three hundred eighteen infants were delivered between 22 weeks, zero days’ and 25 weeks, six days’ gestational age. Of these, 21% of infants (67 of 318) were stillborn, 38% (121 of 318) were alive on discharge from hospital and 41% (130 of 318) died in the neonatal period. Of the live-born infants who did not survive to discharge, 34% (44 of 130) had no initial attempts at resuscitation. Withdrawal of life-sustaining treatment was the immediate cause of death in 84% of cases (61 of 73) in which the infant survived initial resuscitation. Documented parental rationale for withdrawal of treatment included “preventing pain and suffering”, “not wanting (their baby) to die on a ventilator” and “poor quality of life”. Families in which the mother identified as Catholic were more likely to withhold resuscitation and to withdraw life-sustaining treatment because death was imminent despite ongoing treatment. Non-Catholic families were more likely to withdraw life-sustaining treatment based on prediction of a poor long-term prognosis.

CONCLUSIONS:

Decisions not to initiate resuscitation remain fairly common practice at the extremes of prematurity. The majority of deaths in those who survive initial resuscitative measures are secondary to withdrawal of treatment decisions made in the neonatal intensive care unit.     

Prevalence of autistic spectrum disorders in Lothian, Scotland: an estimate using the "capture-recapture" technique

Aims

To determine the prevalence of autistic spectrum disorder in a geographically defined population for children receiving services and compare this to the estimated prevalence based on a two source “capture–recapture” technique previously employed in biological populations to give a “true” prevalence with full ascertainment.

Methods

Information on gender, age, and postcode sector was determined from nine different datasets maintained for children with autistic spectrum disorder and point prevalence was calculated. Data from the diagnostic services and the Special Needs System were entered into the two source “capture–recapture” calculation.

Results

Of a total population of 134 661 under 15 year olds resident in Lothian in southeast Scotland, 443 were known to autism services, with a point prevalence of 32.9 per 10 000 (95% CI 29.8 to 36.0). The estimated prevalence using a capture–recapture method was 44.2 (95% CI 39.5 to 48.9), which suggests that 74% of affected children were registered with services in some way. The age distribution was similar to that of the background population under the age of 12 years and there was no indication of a rising prevalence. The ratio of boys to girls was 7:1.

Conclusions

The prevalence of autistic spectrum disorder in a geographically based population employing two source capture–recapture analysis is comparable to that quoted for the best active ascertainment studies. This technique offers a tool for establishing the prevalence of this condition in health service populations to assist in planning clinical services.     

Size for gestational age at birth: impact on risk for sudden infant death and other causes of death, USA 2002

Background

Small for gestational age (SGA) infants have been reported to be at higher risk for sudden infant death syndrome (SIDS).

Objective

To compare the risk of SIDS among SGA and large for gestational age (LGA) infants with that of death from other causes of sudden unexpected deaths in infancy (SUDI) and the residual “other” causes of infant death.

Methods

The 2002 US period infant birth and death certificate linked file was used to identify infant deaths classified as SIDS (ICD‐10 code R95), SUDI (ICD‐10 codes R00‐Y84 excluding R95) or all other residual codes. The 2002 race and sex‐specific birth cohorts were used to generate the 10th and 90th percentiles of birth weight for each gestational age week from 24 to 42 weeks'' gestation. Demographic variables previously identified as associated with SIDS were used in multiple logistic regression equations to determine the risk for death among SGA and LGA infants (birth weight <10th percentile and >90th percentile, respectively) independent of other potentially confounding variables.

Results

Complete data on 1956 SIDS deaths, 2012 SUDI, and 11 592 other deaths were available. The adjusted OR for SIDS, SUDI and “other” causes for SGA infants was 1.65 (95% CI 1.47 to 1.85), 1.78 (1.59 to 2.00) and 4.68 (4.49 to 4.88), respectively. The adjusted OR for LGA infants was reduced for SIDS (0.73 (0.60 to 0.89)), SUDI (0.81 (0.68 to 0.98)) and “other” (0.42 (0.38 to 0.46)).

Conclusion

Although SGA infants seem to be at slightly increased risk for SIDS or SUDI their risk for “other” residual causes is about 2.5 times higher. LGA infants seem to be at reduced risk of mortality for all causes. The mechanisms by which restricted intrauterine growth increases risk of mortality and excessive intrauterine growth offers protective effects are uncertain.Small for gestational age (SGA) infants have been reported to be at 1.4 to 2.0 times greater risk for sudden infant death syndrome (SIDS).1,2,3,4,5 Other causes of death have also been reported to be associated with being SGA by some authors,6,7 in particular, preterm SGA infants are reported to have an increased risk of death ranging from 2.4 to 3.6 times that of appropriate for gestational age (AGA) preterm infants.8,9 Other authors, however, have observed no increase in risk for other causes of death among term SGA infants after adjusting for racial disparities in birth weight.10 The mechanisms associated with the increased risk for SIDS among SGA infants remain unclear, but some investigators have suggested that the risk may be secondary to the hypoxia these infants are suspected of being exposed to in utero.11,12 Why in utero hypoxia may make an infant more vulnerable to SIDS has been hypothesised to be related to a reduction of serotonergic receptors in multiple brainstem nuclei.13,14Despite the biological plausibility of the hypoxic‐related vulnerability of SGA infants for SIDS, comparative studies of just how much greater risk such an infant has for SIDS compared with other causes of death are not replete in the literature. Thus, the purpose of this analysis was to determine whether SGA infants were at greater risk for SIDS compared with other causes of death. The risk of large for gestational age (LGA) infants for SIDS has not been closely examined and an examination of this relationship was thus included in the analysis. Because of a trend towards the reclassification of SIDS deaths to other causes of sudden unexpected causes of death (SUDI),15 the risk of SUDI excluding SIDS for SGA infants as well as the risk of the remaining residual “other” causes of death among these infants was examined for the USA for the year 2002.     

Postnatal factors associated with failure to thrive in term infants in the Avon Longitudinal Study of Parents and Children

Objective

To assess the contribution of postnatal factors to failure to thrive in infancy.

Methods

11 900 infants from the Avon Longitudinal Study of Parents and Children (ALSPAC), born at 37–41 weeks'' gestation, without major malformations and with a complete set of weight measurements in infancy (83% of the original ALSPAC birth cohort) were studied. Conditional weight gain was calculated for the periods from birth to 8 weeks and 8 weeks to 9 months. Cases of growth faltering were defined as those infants with a conditional weight gain below the 5th centile.

Results

Analysis yielded 528 cases of growth faltering from birth to 8 weeks and 495 cases from 8 weeks to 9 months. In multivariable analysis, maternal factors predicting poor infant growth were height <160 cm and age >32 years. Growth faltering between birth and 8 weeks was associated with infant sucking problems regardless of the type of milk, and with infant illness. After 8 weeks of age, the most important postnatal influences on growth were the efficiency of feeding, the ability to successfully take solids and the duration of breast feeding.

Conclusions

The most important postnatal factors associated with growth faltering are the type and efficiency of feeding: no associations were found with social class or parental education. In the first 8 weeks of life, weak sucking is the most important symptom for both breastfed and bottle‐fed babies. After 8 weeks, the duration of breast feeding, the quantity of milk taken and difficulties in weaning are the most important influences.Failure to thrive (FTT) is a term used to describe children whose growth is relatively poor in infancy,¹ and is associated with deficits in development and social interaction. As the most objective clinical finding associated with the condition of FTT is poor weight gain,² the term “growth faltering” is preferable for these infants as it avoids the pejorative use of the word “failure”.In the complex literature on FTT, many factors have been reported to be associated with the condition,³ including biological factors such as parental size,⁴ social factors including deprivation, maternal educational level and family size,⁵ and a wide range of physical conditions.⁶ In most cases, the final pathway is nutritional intake inadequate for the metabolic and growth needs of the child. However, although there is a large literature on the factors associated with FTT,³ many of the studies are limited as a result of small sample size, being hospital or clinic based, or using retrospective data—and the research field is plagued by diagnostic inconsistency between studies.¹ The Avon Longitudinal Study of Parents and Children (ALSPAC; http//www.alspac.bristol.ac.uk) provides a unique opportunity to investigate FTT in a whole population of infants, using prospectively collected information. We have already described the familial, social and prenatal factors associated with FTT in this cohort,⁴ and now report on the postnatal factors associated with poor infant growth.     

A randomised study of "wet wraps" versus conventional treatment for atopic eczema

Aims

To compare two treatments in common usage for children with atopic eczema: “wet wrap” bandages versus conventional topically applied ointments.

Methods

A total of 50 children (age 4–27 months) with moderate to severe eczema were randomised to one or other treatment. Two research nurses supervised the study. The first gave advice and support, and the second, blinded to the treatment modality being used, scored the change in eczema severity over a period of four weeks using the SCORAD eczema severity scale.

Results

Both treatments gave a benefit in overall SCORAD scores (mean change for wet wrap group was 53 to 24; for the conventional group, 41 to 17). There was no significant difference between the two groups in terms of overall improvement at four weeks or in the timescale of improvements. The amount of topical of topical steroid used was similar in both groups. The wet wrap group suffered significantly more skin infections requiring antibiotics. Carers reported that wet wraps were less easy to apply than conventional treatment.     

Evidence for sexual transmission of genital herpes in children

Introduction

Genital herpes in a prepubertal child presents a child protection clinician with a difficult problem: how likely is it that transmission occurred as a consequence of sexual abuse? Published guidelines on the management of sexually transmitted infections in children provide varying recommendations and refer to a limited literature.

Objective

To review the evidence for the likelihood of sexual transmission in a child with proven genital herpes.

Methods

Structured literature search for reports of series of children presenting with genital herpes where an assessment for possible sexual transmission or child sexual abuse had been made.

Results

Five suitable papers were identified. Although just over half of reported cases of genital herpes in children had evidence suggestive of a sexual mode of transmission, the quality of assessment of possible sexual abuse was too weak to enable any reliable estimation of its likelihood. Sexual transmission is reported more commonly in older children (aged ⩾5 years), in children presenting with genital lesions alone and where type 2 herpes simplex virus is isolated.

Conclusions

Child protection clinicians should be aware of the weakness of the evidence on the likelihood of sexual transmission of genital herpes in prepubertal children. The US guidance that child sexual abuse is “suspicious” reflects the evidence better than the UK guidance that it is “probable”. A larger, more up‐to‐date, methodologically sound, population based study is required.     

Role of Serum Levels of Vascular Endothelial Growth Factor and Its Receptor in Retinopathy of Prematurity

Background:

Retinopathy of prematurity (ROP) is a disorder of developing retina of low birth weight preterm infants which can lead to blindness. One theory attributes the fibrosis seen in ROP to deregulation of vascularization in the retina. Vascular endothelial growth factor (VEGF) is one of the important mediators involved in vascularization.

Objectives:

This study was carried out to assess the role of VEGF and its receptor in retinopathy of prematurity.

Patients and Methods:

Around 200 preterm infants born in SSK hospital were screened at 33 - 34 weeks. These babies were followed up according to the international classification of retinopathy of prematurity (ICROP) criteria. Those infants who developed ROP at 38 - 40 weeks were enrolled in group A while an equal number of infants who did not develop ROP were included in group B. Each group comprised of 30 subjects each. Venous sampling was carried out twice, once at 33 - 34 weeks and then again at 38 - 40 weeks. VEGF and VEGF-R2 were estimated by commercially available ELISA kits.

Results:

There was no statistically significant difference between the levels of VEGF and VEGF-R2 in both groups at first visit as well as the follow up visit. However, the intra-group difference was significant between the first and the final visit in VEGF and VEGF-R2 levels in the cases with ROP. In the control population, the VEGF levels were significantly lower in the follow up visit as compared to the initial visit.

Conclusions:

Our study demonstrates that a significant difference is seen in the serum VEGF and VRGF-R2 in the second visit of the infants with ROP demonstrating that VEGF might be responsible for the initiation and aggravation of ROP.     

Symptom reporting in childhood asthma: a comparison of assessment methods

Background

One barrier to receiving adequate asthma care is inaccurate estimations of symptom severity.

Aims

To interview parents of children with asthma in order to: (1) describe the range of reported illness severity using three unstructured methods of assessment; (2) determine which assessment method is least likely to result in a “critical error” that could adversely influence the child''s care; and (3) determine whether the likelihood of making a “critical error” varies by sociodemographic characteristics.

Methods

A total of 228 parents of children with asthma participated. Clinical status was evaluated using structured questions reflecting National Asthma Education and Prevention Panel (NAEPP) criteria. Unstructured assessments of severity were determined using a visual analogue scale (VAS), a categorical assessment of severity, and a Likert scale assessment of asthma control. A “critical error” was defined as a parent report of symptoms in the lower 50th centile for each method of assessment for children with moderate–severe persistent symptoms by NAEPP criteria.

Results

Children with higher severity according to NAEPP criteria were rated on each unstructured assessment as more symptomatic compared to those with less severe symptoms. However, among the children with moderate–severe persistent symptoms, many parents made a critical error and rated children in the lower 50th centile using the VAS (41%), the categorical assessment (45%), and the control assessment (67%). The likelihood of parents making a critical error did not vary by sociodemographic characteristics.

Conclusions

All of the unstructured assessment methods tested yielded underestimations of severity that could adversely influence treatment decisions. Specific symptom questions are needed for accurate severity assessments.     

Very prematurely born infants wheezing at follow-up: lung function and risk factors

Objectives

To determine whether abnormalities of lung volume and/or airway function were associated with wheeze at follow‐up in infants born very prematurely and to identify risk factors for wheeze.

Design

Lung function data obtained at 1 year of age were collated from two cohorts of infants recruited into the UKOS and an RSV study, respectively.

Setting

Infant pulmonary function laboratory.

Patients

111 infants (mean gestational age 26.3 (SD 1.6) weeks).

Interventions

Lung function measurements at 1 year of age corrected for gestational age at birth. Diary cards and respiratory questionnaires were completed to document wheeze.

Main outcome measures

Functional residual capacity (FRC_pleth and FRC_He), airways resistance (R_aw), FRC_He:FRC_pleth and tidal breathing parameters (T_PTEF:T_E).

Results

The 60 infants who wheezed at follow‐up had significantly lower mean FRC_He, FRC_He:FRC_pleth and T_PTEF:T_E, but higher mean R_aw than the 51 without wheeze. Regression analysis demonstrated that gestational age, length at assessment, family history of atopy and a low FRC_He:FRC_pleth were significantly associated with wheeze.

Conclusions

Wheeze at follow‐up in very prematurely born infants is associated with gas trapping, suggesting abnormalities of the small airways.     

Children as partners with adults in their medical care

Aims

To investigate the seldom published views of children with type 1 diabetes about their condition and ways in which they share in managing their medical and health care with adults.

Methods

Semi‐structured, tape recorded interviews, during 2003, with a purposive sample of 24 children aged 3–12 years who have type I diabetes and who attend two inner London hospitals and one hospital in a commuter town.

Results

The children reported high levels of understanding, knowledge, and skill gained from their experience of living with diabetes and constantly having to take account of the condition and their paediatrician''s guidance. Their key goals were to be “normal” and “just get on with their lives”.

Discussion

The interviews showed that children''s experiences of diabetes tended to enable them to make informed, “wise” decisions in their own best interests, even at a young age. They achieved a complicated balance between the sometimes competing goals of social health “being normal” and physiological health in controlling glycaemia. Their competence supports approaches in children''s rights and in policy makers'' aims that people with diabetes—including children—gain more knowledge, skills, and responsibility for their own care in partnership with healthcare professionals. Consent is usually considered in relation to surgery; however the children showed how they constantly dealt with decisions about consent or refusal, compliance with, or resistance to their prescribed treatment. Their health depends on their informed commitment to medical guidance; more research is needed about the daily realities of children''s committed and responsible co‐management of their chronic illness.     

Comparison of alteplase and heparin in maintaining the patency of paediatric central venous haemodialysis lines: a randomised controlled trial

Objectives

To determine whether the tissue plasminogen activator, alteplase, is more effective than heparin in preventing blood clots developing in children''s haemodialysis central lines between dialysis sessions.

Design

A prospective double‐blind, within‐patient multiperiod cross‐over controlled trial of instilling a “lock” of either heparin 5000 U/ml or alteplase 1 mg/ml into the central lines of two children haemodialysed twice weekly, and seven dialysed thrice weekly, over 10 weeks.

Setting

A UK paediatric nephrology unit.

Main outcome measures

Weight of blood clot aspirated from the line at the start of the next dialysis session.

Results

The odds of a clot forming was 2.4 times greater with heparin than alteplase (95% CI 1.4 to 4.0; p = 0.001), and when present they were 1.9 times heavier (31 vs 15 mg; 95% CI 1.5 to 2.4; p<0.0005). There was no effect of inter‐dialytic interval. One child required an alteplase infusion to clear a blocked line following a heparin lock. We subsequently changed our routine locks from heparin to alteplase. Comparing the year before and after that change, the incidence of blocked lines requiring an alteplase or urokinase infusion fell from 2.7 to 1.2 per child (p<0.03), and the need for surgical replacements from 0.7 to nil (p<0.02).

Conclusion

Alteplase is significantly more effective than heparin in preventing clot formation in central haemodialysis lines. This reduces morbidity and improves preservation of central venous access. It is more expensive, though relatively economic if packaged into syringes and stored frozen until needed, but reduces the costs of unblocking or replacing clotted lines.     

Vaccine coverage in England: the impact of health service reorganisation

Aim

To evaluate the impact of reorganisation of the health service and a change in the definition used to collect immunisation coverage statistics on vaccine coverage data in England.

Methods

Denominator data from the Cover Of Vaccination Evaluated Rapidly (COVER) programme, the national programme for the collection of immunisation coverage statistics, were compared to the Office for National Statistics (ONS) population data; the impact of any discrepancies between the two data sources on vaccine coverage was assessed.

Results

ONS populations were generally larger than COVER populations. This was particularly true for 2002, the year Primary Care Trusts (PCTs) came into existence, suggesting that some children are being missed by the COVER programme. On average, in 1998–2001 around 10 000 children per year (∼2%) were lost to the COVER population estimates compared to data from ONS. This increased to around 20 000–40 000 (∼3–8%) children in 2002, but decreased again in 2003 to 2000–8000 (∼1%) children. Assuming all the “lost” COVER children were vaccinated, vaccine coverage appeared very similar to that seen in the COVER programme for all antigens. However, assuming all the “lost” children were unvaccinated, coverage would be substantially lower for all antigens (range 2.7–3.5%).

Discussion

This analysis provides a quantitative example of how changes such as restructuring of the health service directly impact on public health surveillance. Such changes have potential risks for information and may affect important data used to inform public health policy.     

Randomised trial of a parenting intervention during neonatal intensive care

Objective

To evaluate the influence of parenting intervention on maternal responsiveness and infant neurobehavioural development following a very premature birth.

Design

Cluster‐randomised controlled trial, with a crossover design and three‐month washout period.

Setting

Six neonatal intensive care units.

Patients

Infants born <32 weeks'' gestation.

Intervention

The Parent Baby Interaction Programme (PBIP) is a supportive, educational intervention delivered by research nurses in the neonatal intensive care unit, with optional home follow‐up for up to six weeks after discharge.

Main outcome measures

Parenting stress at 3 months adjusted age, as measured by the Parenting Stress Index (PSI). Other outcomes included the Neurobehavioural Assessment of the Preterm Infant (NAPI) and maternal interaction as assessed by the Nursing Child Assessment Teaching Scale (NCATS) and the responsivity subscale for Home Observation for Measurement of the Environment (HOME).

Results

112 infants were recruited in the intervention phases and 121 in the control phases. Mean standardised NAPI scores at 35 weeks did not differ between the PBIP and control groups. Both groups had low but similar NCATS caregiver scores before discharge (36.6 in the PBIP group and 37.4 in control, adjusted mean difference −0.7, 95% CI −2.7 to 1.4). At three months, adjusted age mean PSI scores for the PBIP group were 71.9 compared with 67.1 for controls (adjusted mean difference 3.8, 95% CI −4.7 to 12.4). NCATS scores and HOME responsivity scores were similarly distributed between the groups.

Conclusion

This early, nurse‐delivered, parent‐focused interaction programme intervention had no measurable effects on short‐term infant neurobehavioural function, mother–child interaction or parenting stresses.     

A clinical approach to paediatric tuberculosis in Canada

OBJECTIVE:

To review clinical aspects of management of tuberculosis (TB) infection and disease in Canadian children in the context of the global TB epidemic and the rising incidence of drug-resistant TB.

DATA SOURCES:

Original and review articles pertinent to: epidemiology of TB globally and in Canada; management of latent TB infection and TB disease in children; diagnostic tests for latent TB infection and TB disease; and management of drug-resistant TB disease. Multiple Medline searches were used including combinations of the MeSH terms ‘Tuberculosis*’ (and its multiple subheadings), ‘Child*’, ‘Drug Resistance’, ‘Mycobacterium tuberculosis*’ and ‘Canada/epidemiology*’. Select relevant textbooks were reviewed.

DATA SELECTION AND EXTRACTION:

The articles were analyzed from the perspective of clinicians managing children in Canada today, and from our experience of managing children with TB in Southern Ontario.

DATA SYNTHESIS:

TB in Canada is largely a disease of the foreign-born and their children, but continues to occur in aboriginal children. Drug resistance is increasing globally and in Canada. Most children with TB disease in Canada are asymptomatic and found through contact tracing. False positive skin tests are frequent where TB prevalence is low.

CONCLUSIONS:

Obtain source case drug sensitivities when treating TB contacts and those with latent TB infection. Obtain cultures before treating TB disease and treat disease with at least four antituberculous drugs while awaiting sensitivities. Use Directly Observed Therapy for TB disease. Confine TB skin testing to children at high risk for TB infection or disease, including contacts of infectious patients and recent immigrants. A team approach and infection control measures including environmental controls are important in managing TB disease.     

Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening

Objective

To determine the pancreatic phenotype of infants with cystic fibrosis (CF) diagnosed in the first week of life by a combined immunoreactive trypsin/mutation screening program.

Design

A prospective evaluation of pancreatic function in infants with CF at the time of neonatal diagnosis and up to the age of 12.

Setting

Two different centres (Verona, Italy and Westmead, Australia) to enable comparison of results between two regions where <60% or ⩾90% of patients, respectively, have at least one single ΔF508 a mutation.

Patients

315 children with CF including 149 at Verona and 166 at Westmead.

Interventions

Fat balance studies over 3–5 days and pancreatic stimulation tests with main outcome measures being faecal fat or pancreatic colipase secretion. Patients with malabsorption are pancreatic insufficient (PI) or with normal absorption and pancreatic sufficient (PS).

Results

34 infants (23%) at Verona and 46 (28%) at Westmead were PS at diagnosis. 15% of those with two class I, II or III “severe” mutations and 26/28 (93%) of those with class IV or V mutations were PS at this early age. Of the 80 infants with PS, 20 became PI before the age of 12. All 20 had two severe mutations.

Conclusion

Neonatal mutational screening programs for CF are less likely to detect PS patients with non‐ΔF508 mutations. Of PS patients who are detected, those with two severe class I, II or III mutations are at particularly high risk of becoming PI during early childhood.Neonatal screening for cystic fibrosis (CF) began in the early 1980s with measurement of immunoreactive trypsin (IRT) assays on dried blood spots obtained from infants in the first 4–6 weeks of life.^1,2 Questions were raised about the reliability of these programs as they had not been validated for the 10%–15% of patients with normal fat absorption (pancreatic sufficient or PS).³ Subsequently however, 37% of screened infants were found to be PS,^4,5 that is 2–3 times the 10%–15% observed in older patients.³ Furthermore, follow‐up studies demonstrated that nearly 50% of the infants with PS near birth developed fat malabsorption (pancreatic insufficient or PI) in later childhood, thus accounting for the lower proportion of PS patients at an older age. It is significant that all those who transitioned from being PS to PI had two “severe” class I, II or III cystic fibrosis transmembrane conductance regulator (CFTR) mutations,⁶ as defined previously,^7,8 whereas those with persistent PS had at least one class IV or V “mild” mutation.Following the discovery of the CFTR gene,⁹ most screening programs have modified their screening strategy.¹⁰ In regions where more than 90% of patients with CF have at least one ΔF508 mutation, analysis for ΔF508 is performed on week 1 neonatal blood spots with an elevated IRT level.¹¹ This strategy has been further modified in regions (particularly southern Europe) where ΔF508 is only present in 40%–60% of patients, by screening for an extended panel of non‐ΔF508 mutations (usually severe class I, II or III) common to that region.^12,13 These IRT/DNA screening strategies are, however, not without problems. For instance, in regions where ΔF508 is responsible for CF in over 90% of cases, up to 10% of patients have non‐ΔF508 mutations with a preponderance of PS patients¹⁴ and therefore screening for ΔF508 alone would not detect such patients.Currently, only limited data are available on the pancreatic phenotype of infants with CF diagnosed by IRT/DNA screening from a study¹⁵ restricted to 27 infants with only class I or II mutations. The present study was thus undertaken, firstly to determine the pancreatic phenotype of infants in either a ΔF508 predominant or non‐dominant region, and secondly, to determine what proportion of infants initially with PS later transitioned to being PI and whether this was determined by the presence of two severe mutations.     

Managed Care Network for the assessment of cardiac problems in children in a district general hospital: a working model

Aim

To assess a model for cardiology assessments in children with suspected heart disease by a general paediatrician with special expertise in paediatric cardiology (PsePC) in a district general hospital.

Methods

A new monthly “screening” clinic was established in May 2004 by the PsePC to reduce the burden of new referrals on outreach tertiary paediatric cardiology services. All patients were to have echocardiograms as part of their referral for cardiac assessment. Over a one year period (May 2004–April 2005), through audit, details of referrers, indications for referral, echocardiography assessments, and subsequent management were recorded. This was compared with the pattern of patients seen in the joint paediatric cardiology outreach clinics over a two year period (May 2003–April 2005).

Results

In the “screening” clinic, there were 75 appointments for 65 patients seen in 12 months. Fifty five of these patients had normal echocardiographic studies. Of the 47 referrals with heart murmurs in asymptomatic children, four had structurally abnormal hearts on echocardiographic assessment. Between May–October 2003 and November 2003–April 2004, the number of new patients with normal echocardiographic studies seen in the paediatric cardiology outreach clinic was 33/106 (31%) and 28/110 (25.4%) respectively. Following the introduction of the “screening” clinic, the number decreased to 21/99 (21%) during May–October 2004, and 10/102 (9.8%) during November 2004–April 2005.

Conclusion

This model can work effectively in order to identify pathology requiring input of a paediatric cardiologist more appropriately. Paediatricians with specific training in paediatric cardiology are potentially well equipped to provide this basic screening service.