Glycaemic control in children with type 1 Diabetes Mellitus in Malta (2013 - 2014)

Background: Suboptimal glycaemic control, measured by glycosylated haemoglobin (HbA1c), increases the risk for long-term complications in Type 1 diabetes mellitus (T1DM). Aims and objectives: To calculate and compare glycaemic control in children with T1DM in Malta during the period 2013 to 2014. To identify any need for changing way services are structured and delivered. Methods: An estimated 96% of all children with T1DM less than 16 years of age in Malta are cared for by the same paediatric diabetes team, based at the main state hospital. The average HbA1c of all measurements taken every 3 months by HbA1c analyser was calculated for each patient and these results were validated by annual laboratory measurement of HbA1c from venous samples. Results: Overall, 43.8% of participants in 2013 and 49.6% of participants in 2014 achieved an HbA1c target of < 7.5%. The mean HbA1c in 2013 was 7.69±0.16% and in 2014 7.67±0.17%. A higher proportion of patients in the younger age-group achieved an HbA1c target of <7.5%. The patients most likely to have a higher HbA1c were in the older age-groups. Conclusion: Glycaemic control achieved in Malta in children aged < 16 years with T1DM was stable over the two years analysed. Our data is comparable, or slightly better, to that achieved in other European countries. However, there is always room for improvement, as Swedish data have shown. Multidisciplinary team meetings could be one way to address those patients not achieving adequate control.peer-reviewe

Assessing the home management of hypoglycaemia in paediatric T1DM

Objectives: The home management of hypoglycaemia is an essential part of diabetes care. All carers of children with T1DM in Malta receive education on managing hypoglycaemia at the time of initial diagnosis. While this education is often revisited at subsequent appointments, it is not always retained and put into practice. We conducted a survey to assess Maltese carers’ knowledge of how to manage suspected episodes of hypoglycaemia in their children, as well as identify areas where carers feel least confident. Methods: All Maltese patients under the age of 16 years with T1DM were included. A questionnaire was formulated to assess various aspects of hypoglycaemia management that any carer of a child with T1DM might be expected to know. The carer of each patient with T1DM was contacted a minimum of 6 months following the diagnosis of T1DM. Results: 117 carers of children with T1DM were interviewed by telephone or in person. While most correctly described appropriate first-line management of suspected hypoglycaemia, only 21% recognized the need to place an unconscious child in the lateral recumbent position, and only 53% suggested they would avoid giving anything by mouth in such an event. Over 80% felt confident in managing hypoglycaemia, but 78% feared using intramuscular glucagon. Conclusions: This survey highlights areas of knowledge that parents of children with T1DM lack despite regular education. Doctors taking care of children with T1DM should regularly assess carers’ knowledge, and discuss specific areas of concern.peer-reviewe

Panhypopituitarism : a rare cause of neonatal cholestatic jaundice

Although not uncommon, neonatal cholestatic jaundice is usually caused by congenital anatomical defects of the biliary tree or intrinsic liver pathology. We describe a case of persistent cholestatic jaundice in a six week old female infant caused by panhypopituitarism. To our knowledge this is the first report of hypopituitarism presenting with cholestatic jaundice in Malta. Prolonged obstructive jaundice in the neonatal period should be urgently investigated until a cause is found.peer-reviewe

Malignant disease in childhood : the price of cure : late physical and socioeconomic effects of treatment

The aim of cancer therapy in childhood is to achieve a lasting cure without physical and psychosocial harm and, preferably, at a low financial cost. Although cure is possible in many types of childhood cancer, this is often accompanied by complications as a consequence of intensive therapy. These late effects primarily affect fertility, the cardio-respiratory and endocrinological systems. Psychosocial adverse effects may have serious implications on the marriage and employment prospects of those patients surviving into adulthood. Furthermore, the risk of treatment-induced, secondary malignancies may increase as survival improves. With current intensive chemotherapy and radiotherapy, the attainment of cure rates in (EXC)ess of 60-70% is, inevitably, associated with significant morbidity. Indeed, recent developments in cancer therapy have focused on ways of reducing this morbidity, whilst still maintaining the overall improvement in survival.peer-reviewe

The relationship between infecting organisms and underlying structural anomalies in children with urinary tract infections

Introduction: Urinary tract infections (UTIs) are a common cause of morbidity in childhood with potential for renal scarring and reflux nephropathy which can lead to hypertension and end-stage renal failure. Aim: The aim of this study was to investigate the relationship between the infecting organism and any underlying anomalies of the urinary tract which may predispose to the development of infections and which may alter the management of children with UTIs. Methods and results: A total of 72 cases of UTI were recorded retrospectively (in- and outpatients), with ages ranging from 3 days to 48 months (mean 9.5, median 5 months). Fifty seven (79%) of patients had their first reported urinary tract infection under the age of 1 year.. Fifty eight (80.6%) were E. coli infections. These presented at an older age than non-E. coli infections. Investigations were abnormal in 31 (43%) cases. The mean age for first infection in patients with abnormal investigations was 7.7 months (median 2 months), younger than those with no renal tract abnormalities. Organisms other than E. coli were rarely found when no significant abnormalities were detected with investigation by US and MCUG and this was a statistically significant difference (p<0.001). Renal scarring was identified in 10 (13.9%) patients. Discussion: This study confirms that non-E. coli UTI is associated with underlying renal pathology and that early infections with any organism are more likely to be associated with underlying abnormalities. We also outline an algorithm based on the recent NICE 2007 guidelines which will be adopted by the Paediatric Department, Mater Dei Hospital for the investigation of UTI.peer-reviewe

A comparison of clinical paediatric murmur assessment with echocardiography

Objective: To compare the clinical acumen of paediatric cardiovascular examination between various hospital paediatrician grades. Design: Prospective data collection of clinical and echocardiography findings on paediatric echocardiography referrals. Setting and patients: All paediatric patients (birth - 14 years) referred for echocardiography, in a regional hospital catering for the island population of Malta. Echocardiography was carried out by three paediatricians with tertiary training in this technique. Main outcome measures: Pre-echocardiography clinical diagnoses were compared with echocardiography results according to grade of referring hospital doctor (ranging from houseman to consultant). Both normal and abnormal hearts at echocardiography were included. Results: Echocardiographers had the highest clinical accuracy and the highest attempts at reaching a clinical diagnosis. Accuracy and attempts at diagnosis decreased as doctor's hospital grade decreased, from consultant to houseman. Ventricular septal defect was the most easily diagnosed lesion. Atrial septal defect was often misdiagnosed as pulmonary stenosis.peer-reviewe

A recessive <i>PRDM13 </i>mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia

The positive regulatory (PR) domain containing 13 (PRDM13) putative chromatin modifier and transcriptional regulator functions downstream of the transcription factor PTF1A, which controls GABAergic fate in the spinal cord and neurogenesis in the hypothalamus. Here, we report a recessive syndrome associated with PRDM13 mutation. Patients exhibited intellectual disability, ataxia with cerebellar hypoplasia, scoliosis, and delayed puberty with congenital hypogonadotropic hypogonadism (CHH). Expression studies revealed Prdm13/PRDM13 transcripts in the developing hypothalamus and cerebellum in mouse and human. An analysis of hypothalamus and cerebellum development in mice homozygous for a Prdm13 mutant allele revealed a significant reduction in the number of Kisspeptin (Kiss1) neurons in the hypothalamus and PAX2(+) progenitors emerging from the cerebellar ventricular zone. The latter was accompanied by ectopic expression of the glutamatergic lineage marker TLX3. Prdm13-deficient mice displayed cerebellar hypoplasia and normal gonadal structure, but delayed pubertal onset. Together, these findings identify PRDM13 as a critical regulator of GABAergic cell fate in the cerebellum and of hypothalamic kisspeptin neuron development, providing a mechanistic explanation for the cooccurrence of CHH and cerebellar hypoplasia in this syndrome. To our knowledge, this is the first evidence linking disrupted PRDM13-mediated regulation of Kiss1 neurons to CHH in humans