NEONATAL SCREENING FOR CONGENITAL HYPOTHYROIDISM IN ROMANIA: DATA FROM MEDILOG MEDICAL INFORMATION REGISTRY.

OBJECTIVE: Congenital hypothyroidism (CH) is one of the common preventable causes of intellectual disability in neonates, by early detection through neonatal screening. We present the 8-year experience of the National Institute for Mother and Child Health (INSMC) in using MEDILOG national registry for the neonatal screening of CH. METHODS: Neonatal screening for CH, done by TSH measurement in dried blood spot, is organized in 5 regional centers, each with a reference laboratory. RESULTS: In 2018 80% of all the newborns, from 80% of the maternity hospitals, were registered in MEDILOG. After re-testing of TSH and T4/FT4 from venous blood in positive cases, the incidence of confirmed CH in 2018 was 1/3576 - 1/ 4746. In INSMC center (which includes 26 counties and Bucharest, out of 41 counties), in 2018 the incidence of positive CH cases at screening was 1/2094 (TSH cut-off ≥17 mIU/L) and of confirmed CH cases 1/3576 newborns. For positive screening cases, the median duration from birth to the INSMC laboratory result was 19 days: median of 9 days between screening and laboratory registration and 6 days between registration and test result. CONCLUSION: MEDILOG registry is a practical instrument for monitoring the steps of neonatal CH screening, the incidence of CH, the evolution of the diagnosed cases, for evaluation of iodine deficiency (by neonatal TSH), and also for research, with the aim of improving early disease detection and treatment.

Sleep spindles in bipolar disorder - a comparison to healthy control subjects.

OBJECTIVE: Bipolar disorder is a severe mental disorder for which currently no reliable biomarkers exist. It has been shown that patients with schizophrenia but not with unipolar depression have a reduced density of fast sleep spindles during N2 sleep. The aim of this study was to assess fast sleep spindle density in euthymic patients with bipolar disorder. METHODS: Patients with bipolar disorder (n = 24) and healthy control subjects (n = 25) were assessed using all-night polysomnography. Sleep spindles within stage N2 sleep were identified by visual inspection and subdivided into fast (>13 Hz) and slow (≤13 Hz) spindles. All spindles were subsequently characterised by density, frequency, amplitude, duration and coherence. RESULTS: Euthymic patients with bipolar disorder were found to have a reduced density and a lower mean frequency of fast spindles. Slow spindle density and frequency did not differ between groups. There were no differences regarding amplitude, duration or coherence. CONCLUSIONS: A reduction in fast spindle density during N2 sleep points towards thalamic dysfunction as a potential neurobiological mechanism of relevance in bipolar disorder. In addition, a reduced sleep spindle density could be interpreted as a common endophenotype shared with schizophrenia but not unipolar depression and may - if replicated - be of utility in early recognition and risk stratification.

[Retinopathy of prematurity--screening results]. / Retinopatia de prematuritate--rezultatele screening-ului pe un lot de 1783 prematuri, in perioada Septembrie 2002 - 31 Decembrie 2007.

OBJECTIVE: Analysis of the results of screening for retinopathy of prematurity (ROP) in a sample of prematurely born babies evaluated in the Institute for Mother and Child Care, between September 2002 - 31st December 2007. MATERIALS AND METHOD: A data base of premies screened for retinopathy of prematurity in our clinic and also those referred sporadically from different neonatal units from other towns (1783 babies) was set up, and this was used to analyze aspects referring to the ROP incidence, as well as outcomes of laser treatment. RESULTS: A total of 1783 preterm babies were examined, overall incidence of ROP was 55%. Gestational age (GA) and birth weight (BW) are important factors associated with an increased risk of ROP). Of the 981 premies with various stages of ROF 124 (12.6%) had GA 32 - 34 weeks and 264/981 (26,1%) had BW 1500 - 2000g. 272/1783 (15.2%) had severe ROP which required laser photocoagulation. Favourable outcomes of laser photocoagulation was obtained in 86.7% of the total sample, with significant differences between those with zone II ROP vs those with zone I ROP (93.3% vs 76.9%, p = 0.002). CONCLUSIONS: ROP incidence in Romania is, for the time being, much higher than that reported in the developed countries. We believe that, at present, in our country the ROP inclusion screening criteria should be extended to GA < or = 34 weeks and/or BW < or = 2000g. Short term results of laser photocoagulation are similar to those reported in developed countries. In order to achieve a significant reduction in childhood blindness determined by ROP the current screening and treatment programme needs to be extended to the entire country.

[Cardiac failure in the newborn. Diagnostic pitfalls]. / Insuficienta cardiaca la nou-nascut. Capcane de diagnostic.

Echocardiography commonly represents the diagnostic clue in neonatal heart failure (HF). Congenital heart diseases are the most frequent causes of HF in this age group. Arterio-venous malformations are the most common noncardiac causes of HF. Normal cardiac structural findings on echocardiography require further investigations in order to exclude other causes of HF. We present three male patients admitted in the interval 2003-2007 with neonatal HF, systolic murmur, cardiomegaly, normal cardiac structure on echocardiography and intracranial bruit. All three cases were diagnosed with vein of Galen aneurysmal malformation (VGAM) by head ultrasound. According to age and malformation type, different presentation patterns were noticed: early neonatal intractable HF mimicking aortic coarctation, postnatal HF stabilized by drug treatment, and chronic HF in a VGAM with tendency to spontaneous regression. Both head ultrasound and cranial auscultation are mandatory in newborns or infants with no cardiac primary cause of HF.