This randomized control trial determines if the active management of electrographic and clinical seizures in encephalopathic term or near-term neonates improves survival free of severe disability at 2 years of age compared with only treating clinically detected seizures.
Background: HIDEA (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy and eye abnormalities) syndrome is a rare and novel disease. We describe a premature patient who required extensive work up for his hypoventilation with a diagnosis of HIDEA syndrome.Case Description: The patient was born to a pair of consanguineous parents at 32-week gestation. His intermittent bradypnoea requiring significant respiratory support during his postnatal clinical course was atypical for bronchopulmonary dysplasia and this required further extensive work up to look for a cause for his hypoventilation. A trio whole exon sequencing was done which identified homozygous variants in P4HTM, in keeping with the diagnosis of autosomal recessive HIDEA syndrome. He is currently doing well on BiPAP 18 cm H2O / 8 cm H2O, Rate 30 breaths per minute in room air and full nasogastric feeding. He also has cortical blindess and severe global developmental delay. Conclusion:Early diagnosis is crucial to optimise adequate ventilatory management including early tracheostomy as many require lifelong continuous or intermittent ventilation. This minimises the complications of chronic hypoxia and reduces mortality risk.
How Often Do You Fail to Take All of Your Medication?T o the Editor: We read with interest the article by Prieto-Jimenez et al (1); however, the conclusion overlooks the problem of adherence to treatment. A success rate of 44% has never been reported since dual therapies were introduced or in more recent pediatric trials. Compliance is the most important factor predicting treatment success (2), and eradication rates of 20% were reported in those taking <60% of pills (3).In the El Paso children, several indicators of poor adherence are present: treatment of asymptomatic disease, side effects/ bad taste of medication, patient's lack of belief in the benefits of treatment and of insight into the illness, complexity of treatment and possibility of receiving placebo, patients not asking for medical advice, and low income (4).That compliance was suboptimal is confirmed by a second article on the same cohort aiming at assessing iron stores after Helicobacter pylori treatment (5). How do the authors explain that after 6 months of iron administration, ferritin levels only showed a minimal increase after H pylori eradication? A similar experience revealed that in 2 months, children who received iron plus eradication doubled their ferritin content. ( 6) Perhaps, as in the case of antibiotics, they were poorly adherent to iron therapy. We have employed the sequential regimen to treat >200 children with an eradication rate >85% (7). Our data have been confirmed by a recent meta-analysis (eradication rate of 90.7%; 95% confidence interval 83.8%-94.9%) (8).Adherence is a primary determinant of treatment efficacy. When treatment outcome is markedly lower than expected, the key to the reading may well be the question ''how often do you fail to take all your medication?''
Introduction: Late preterm (LP) neonates (34 to 36 weeks gestation) are often managed like term neonates though current literature has identified them to have greater complications. The primary objective of our study was to evaluate and compare morbidity and resource utilisation in LPs especially in view of paucity of Asian studies in this regard. Materials and Methods: A retrospective audit was carried out on 12,459 neonates born in KK Women’s and Children’s Hospital (KKWCH). The chief outcome measures were hypoglycaemia, hypothermia, respiratory morbidity, feeding problems and neonatal jaundice. Resource utilisation included neonatal intensive care unit (NICU) admission, mechanical ventilation, parenteral nutrition and length of hospitalisation. Results: Of 12,459 deliveries, 1221 (10%) were LP deliveries with a significantly increasing trend of 8.6% to 10% from 2002 to 2008 (P = 0.001). Neonatal morbidity in the form of hypoglycaemia (34 weeks vs 35 to 36 weeks vs term: 26% vs 16% vs 1%); hypothermia (5% vs 1.7% vs 0.2%); feeding difficulties (30% vs 9% vs 1.4%); respiratory distress syndrome (RDS) (4% vs 1% vs 0.1%); transient tachypnea of the newborn (TTNB) (23% vs 8% vs 3%) and neonatal jaundice (NNJ) needing phototherapy (63% vs 24% vs 8%), were significantly different between the 3 groups, with highest incidence in 34-week-old infants. Resource utilisation including intermittent positive pressure ventilation (IPPV) (15% vs 3.5% vs 1%), total parenteral nutrition/intravenous (TPN/IV) (53% vs 17% vs 3%) and length of stay (14 ± 22 days vs 4 ± 4.7 days vs 2.6 ± 3.9 days) was also significantly higher (P <0.001) in LPs. Conclusion: LP neonates had significantly higher morbidity and resource utilisation compared to term infants. Among the LP group, 34-week-old infants had greater complications compared to infants born at 35 to 36 weeks. Key words: Morbidity, Mortality, Respiratory distress syndrome, Total parenteral nutrition
Background: HIDEA syndrome is a rare and novel disease characterised by hypotonia, hypoventilation, intellectual disability, epilepsy and eye abnormalities. Diagnosis is made by genetic testing with exclusion of other causes of hypoventilation. We present a case of a neonate born premature to a pair of consanguineous parents with an atypical course of bronchopulmonary dysplasia subsequently diagnosed with HIDEA syndrome. Conclusion: This is the first case report of HIDEA syndrome in South East Asia, broadening our understanding of the full phenotypic pattern of HIDEA syndrome. Patients with HIDEA syndrome are at risk of prematurity and hypothyroidism. Early diagnosis is crucial to optimise adequate ventilatory management including early tracheostomy as many require lifelong continuous or intermittent ventilation. This minimises the complications of chronic hypoxia and reduces mortality risk. HIDEA syndrome is an important differential diagnosis in the consideration of an infant who presents with hypoventilation.
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