Victor Grech

Syndromes and malformations associated with congenital heart disease in a population-based study

Congenital cardiac malformations are frequently associated with non-cardiac malformations and chromosomal anomalies. Management is therefore influenced by interventional needs for all of the various anomalies. We have studied the association of congenital heart disease with extracardiac anomalies in the relatively closed population of Malta, where echocardiographic screening of all syndromic/multiply malformed infants is routinely carried out. Malformations were classified by using the EUROCAT method, for the first time. During 1990-1994, the birth prevalence of congenital heart disease was 8.8/1000 live births (n = 231). Of these, 21 (9%) had recognised chromosomal anomalies (0.80/1000 live births; 95% CI: 0.51-1.25), four (2%) had recognised non-chromosomal syndromes and 14 (6%) had other, major, non-cardiac malformations (0.69/1000 live births; 95% CI: 0.42-1.11). The commonest non-cardiac anomalies were musculoskeletal anomalies. Down syndrome accounted for 95% of all syndromic congenital heart disease, with a birth prevalence of 0.73/1000 live births (95% CI: 0.45-1.16). Comparison of these results with earlier studies showed wide disparities between studies, and this was attributed to differences in methods. such as differing inclusion criteria for both congenital heart disease and syndromes and malformations. The commonest lesion found in association with Down syndrome was isolated ventricular septal defect, not atrioventricular septal defect, and this was attributed to our screening process which identifies small lesions which would otherwise have been clinically missed and/or closed spontaneously.

Secular trends in sex ratios at birth in North America and Europe over the second half of the 20th century

Context: A previous study showed that significantly more boys were born in southern latitudes in Europe than in northern latitudes and the converse pattern was observed in North America. Objective: This study analyses secular trends in gender ratios for live births over the second half of the 20th century. Design, setting, participants: Analysis was carried out from a World Health Organisation dataset comprising live births over the above period. This included 127 034 732 North American and 157 947 117 European live births. Main outcome measures: Analysis of trends in gender ratios for countries in both continents. Results: The findings show a highly significant overall decline in male births in both Europe and North America (p<0.0001), particularly in Mexico (p<0.0001). Interestingly, in Europe, male births declined in North European countries (latitude>40°, p<0.0001) while rising in Mediterranean countries (latitude ≅35–40°, p<0.0001). These trends produced an overall European male live birth deficit 238 693 and a North American deficit of 954 714 (total male live birth deficit 1 193 407). Conclusions: No reasonable explanation/s for the observed trends have been identified and the causes for these trends may well be multifactorial.

Diagnostic and surgical trends, and epidemiology of coarctation of the aorta in a population-based study.

Birth prevalence, and diagnostic and interventional trends for coarctation of the aorta were analysed in an Island population for patients born between 1925 and 1994. This lesion was diagnosed in 64 live births. A declining trend for age at diagnosis and age at surgery was present for the entire period (P<0.0001), predating the introduction of echocardiography, which caused a further decline. Mode of diagnosis changed from clinically, with or without preoperative catheter confirmation, prior to the mid-1980s, to almost exclusively by echocardiogram. Type of intervention was related to era, with patch aortoplasty and end-to-end resection in the mid 1960s to the mid-1970s changing to subclavian flap aortoplasty in the late 1970s and early 1980s followed by a return to end-to-end resection. The perioperative results showed an increase in mortality associated with a change towards earlier age at surgery. Prior to intervention, all Maltese patients are reviewed by a consultant cardiologist from a tertiary referral centre in the United Kingdom, and intervention is undertaken by a consultant paediatric cardiothoracic surgeon in the same setting. For this reason, these trends may be extrapolated to larger European countries. The birth prevalence of coarctation for all patients born between 1980 and 1994 was 0.32/1000 live births (n = 26), well within the range obtained from a review of previous studies. In conclusion, in Malta, coarctation of the aorta has been diagnosed and treated safely, at progressively younger ages, and this has been attributed to improving medical services over the period under study.

Visceral leishmaniasis in Malta—an 18 year paediatric, population based study

BACKGROUND Visceral leishmaniasis (VL) is a chronic parasitic infection that infects approximately 400u2009000 individuals annually, with a predilection towards early childhood. AIMS To study the epidemiology of VL in childhood. METHODS VL is endemic in Malta, a small archipelago of islands in the centre of the Mediterranean with a total population approaching half a million. Notification of human cases of leishmaniasis is compulsory. Case records of all 81 paediatric patients with VL between 1980 and 1998 were analysed. RESULTS The annual incidence of VL declined for all cases of VL, and declined significantly for paediatric cases (pu2009=u20090.01). For 1994 to 1998, the overall incidence of VL was 0.9 per 100u2009000 total population and the paediatric incidence was 2.5 per 100u2009000 population. Median age at presentation was 34 months. Common features at presentation were splenomegaly, hepatomegaly, fever, and pancytopenia with high lymphocyte and monocyte counts. The diagnostic sensitivity of isolated immunofluorescent antibody testing was equivalent to bone marrow aspiration (95%). Blood transfusions for anaemia were required in 93% of patients. Eleven per cent had intercurrent infections. All patients were cured, and were initially treated with intravenous sodium stibogluconate. Defervescence occurred after a median of six days of treatment, and patients continued to be treated on a day case basis. Nine relapsers were retreated with sodium stibogluconate, achieving a cure rate of 94%, but five patients required additional drug therapy. There were no permanent sequelae associated with VL or its treatment. CONCLUSIONS The decreased incidence is attributed to the eradication of stray dogs which are the disease reservoir.

Seasonal Variations in Hospital Admissions for Asthma in Malta

The seasonality of asthma exacerbations may reflect varying exposure to triggers. This study retrospectively analyzes the seasonality of asthma hospital admissions, at all ages, in a population-based study. Analysis of the seasonality of asthma admissions and correlation with temperature was carried out in the setting of a regional hospital covering all acute asthma admissions in an island population. Admissions were divided into pediatric (1994–8) and adult (1989–8) cases. Both pediatric (0–14 years; n = 2916) and adult (15–59 years; n = 1269) admissions showed a peak in January and a trough in August. The seasonality in pediatric admissions was far more pronounced than in adults. Both cohorts exhibited a second, smaller peak in spring. In school-aged children, the end of school in June was associated with a sharp (91%) drop in admissions, and restarting school in October was associated with an even sharper rise (165%). A negative correlation was found between admissions and mean monthly ambient temperatures, and this was most pronounced in the pediatric age groups. This marked seasonality may indicate that temperature is a proxy for the total time spent indoors. Both the start and end of school had a profound impact on pediatric admission rates. Prospective studies are necessary to establish the role of viral infections and the influence of indoor and outdoor aeroallergens on the seasonality of hospitalization rates for asthma in the local setting.

Pigeon breeder's lung in childhood: varied clinical picture at presentation.

Extrinsic allergic alveolitis occurs rarely in childhood. We present 5 cases and briefly review the literature regarding this condition in the pediatric population. This report includes all cases (n = 5) of extrinsic allergic alveolitis known to have occurred in childhood on Malta. All cases were males, and were initially misdiagnosed as having other respiratory illnesses or mental disturbances. The diagnosis was based on a history of exposure to birds, clinical findings, positive avian precipitins, a restrictive defect on pulmonary function tests, and a suggestive chest X‐ray appearance. All were treated with high‐dose oral steroids for 3–4 weeks, with excellent response. Although these patients appear to have suffered no long‐term sequelae, delayed diagnosis can lead to irreversible pulmonary fibrosis. The diagnosis of extrinsic allergic alveolitis should be entertained early in the differential diagnosis of children presenting with unusual respiratory symptoms and signs. Pediatr Pulmonol. 2000; 30:145–148.

Assessment of use of spacer devices for inhaled drug delivery to asthmatic children

In the treatment of bronchial asthma, inhaled therapy with both bronchodilators and corticosteroids represents the basis for acute and long‐term management. Drug therapy in asthma is predominantly by pressurized metered dose inhalers. The impact of treatment on the disease morbidity and mortality depends to a large extent on appropriate delivery of drug to the lungs by means of a spacer device. We performed an audit on spacer use in 200 children and showed that 99% owned a spacer, 2% owned but did not use their spacer, 11% were using a spacer which was not ideal for their age, 17% had a poor technique, and 24% were not following the recommendations given on previous visits to wash the spacer only with a soapy solution. Although physicians frequently associate poor control of asthma with inadequate doses of drugs, many factors must be considered before increasing the dose of inhaled medications to children. We should all ensure that the drugs we prescribe are delivered in the best possible manner, thus improving control of asthma, reducing side effects and offering a more cost‐effective therapy.

Fatal, rotavirus-associated myocarditis and pneumonitis in a 2-year-old boy

Summary Rotavirus infection is common in childhood. We report a 2-year-old boy admitted to hospital with gastro-enteritis who suffered cardio-respiratory arrest and died. Autopsy showed evidence of rotavirus-associated myocarditis and pneumonitis. We are not aware of any previous report of death from this type of consequence of rotavirus infection.

Gender differences in seasonality of acute myocardial infarction admissions and mortality in a population-based study

Acute myocardial infarction (AMI) causes significant morbidity and mortality, and accounts for a substantial proportion of healthcare appropriation. Several studies have shown a seasonal variation in onset and mortality from AMI. Such variations are important not only for epidemiological purposes, but also for efficient allocation of healthcare resources.nnWe retrospectively analysed seasonal variation for all hospital admissions (and mortality thereof) with AMI in Malta for the period 1994–1998. We also correlated AMI admission and mortality with ambient temperatures. The catchment area for this study was Malta, an island in the centre of the Mediterranean (population 470u2009000), with one regional hospital (St Lukes). Potential limitations in this study were minimal as all deaths without a known cause must, by law, undergo postmortem examination. Biases, if any, in diagnosis reporting, timing of AMI events and quality of clinical records, should be the same for both sexes and at all times of the year.nnAge standardised rates were calculated from the World standard population (direct method) with Poisson derivation of 95% confidence intervals (CI). Seasonal analysis was carried out by Edwards method, which fits a harmonic curve to the data by mathematically arranging monthly data in an imaginary circle that …

The prevalence of coeliac disease in Down's syndrome in Malta.

Abstract The prevalence of coeliac disease is increased in individuals with Downs syndrome. The objective of this study was to assess the frequency of coeliac disease in Downs syndrome in Malta. One hundred children and adults with Downs were screened for coeliac disease. A history was taken from all of them and they were examined and measured for weight and height. A full blood count, antigliadin (IgG and IgA) and anti-endomysial antibodies were estimated. Equivocal cases were also screened for antireticulin antibodies. Jejunal biopsy was recommended in all serologically positive cases. The frequency of coeliac disease in Downs syndrome was 8%, much greater than that in the general population. Screening for coeliac disease in all cases of Downs syndrome is therefore recommended.