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.

GESTATIONAL DIABETES MELLITUS AND THE DEVELOPMENT OF CLEFT LIP / PALATE IN NEWBORNS.

BACKGROUND: Several studies observed metabolic disorders in pregnancy as risk factors for birth defects, including orofacial clefts. Diabetes is associated with approx. 10% of the pregnancies, but in Romania, less than 5%. An obese and diabetic woman has 3 times more risk for an offspring with a craniofacial defect than healthy women suggesting that diabetes mellitus contributes to their pathogenesis with complex mechanisms. CASE REPORT: We present the case of a newborn 4 days old, male with neonatal hypoglycemia, cleft lip and proportionate (symmetric) macrosomia. His mother is a 35 years old Caucasian woman with no important personal risk factors and no known history of diabetes mellitus. The glucose tolerance test performed to the mother at about 10 weeks during pregnancy led to the diagnosis of gestational diabetes. DISCUSSION: The gestational diabetes mellitus diagnosed since the 10th week of pregnancy, the hyperglycemia status during pregnancy and the fetal overgrowth (macrosomia at birth) indicate the possible factors that lead to the Orofacial cleft (OFC). CONCLUSION: With the increased prevalence of obesity, diabetes, and the evidence of association of these syndromes with OFCs, it is recommended that mothers planning to become pregnant to follow healthy habits, maintain healthy weight, and be screened for possible diabetes prior to conception and early in pregnancy.

STATINS TREATMENT AND ORO-DENTAL ASPECTS IN A CASE OF HEREDITARY HYPERCHOLESTEROLEMIA IN A CHILD UNDER 6 YEARS.

Familial hypercholesterolemia (FH) is a genetic disease with autosomal dominant transmission, characterised by high blood cholesterol levels. The evolution of this disease leads to primary atherosclerosis and cardiovascular disease. Patients with HF develop atherosclerosis by the age of 20 and usually do not survive past the age of 30. We present the case and oro-dental aspects of a preschooler that was diagnosed at the age of 4 with FH, compound heterozygote (mutation/genotype1 LDLR: C20IX, exon 4; mutation/genotype2 LDLR: G571E, exon 12) and the experience of our clinic in the management of this patient that received off-label treatment with statins. When diagnosed, his cholesterol level was 932 mg/dL and his LDL-cholesterol level was 792 mg/dL. Treatment with rosuvastatin and ezetimibe was prescribed. Both substances (rosuvastatin and ezetimibe) are not approved for children under the age of 6 in Europe. Taking into considerations the diagnosis and prognosis for unfavorable evolution, treatment with statins was started at the age of 5 years.

PERSISTENT ASYMPTOMATIC SEVERE HYPOGLYCAEMIA DUE TO TYPE 0A GLYCOGENOSIS - GENERAL AND ORO-DENTAL ASPECTS.

BACKGROUND: Type 0 glycogenosis is a genetic metabolic disorder characterized by the absence of glycogen synthesis of hepatic synthase and hence of liver glycogen stores in normal amounts. It is an extremely rare condition. CASE STUDY: This case is a 5-year and 11-month-old female child with asymptomatic severe hypoglycemia in the last two years. During the admission and afterwards, an extensive panel of paraclinical and imaging investigations was carried out to diagnose and document the case, which led to the specific genetic test. The result was positive for 2 heterozygous mutations in the GYS2 gene (hepatic glycogen synthase), the p.547C> T mutation was pathogenic (class 1) and c.465del, frameshift likely pathogenic (class 2). In order to integrate the clinical picture of patients with this condition and to establish potential correlations regarding the specific aspects with the general development and the phenotype, the oro-dental status was investigated. CONCLUSION: The investigations showed a positive correlation with literature data in several respects: low stature, hypoglycemia with hyperketonemia but normal plasma lactate, postprandial and contradictory hyperglycemia, delayed bone development, etc. Oro-buco-maxillary aspects showed a slight delay in the dental eruption. Dietary therapy and stricter dental care and additional prophylaxis are required.

Reduction of Bcr-Abl function leads to erythroid differentiation of K562 cells via downregulation of ERK.

The chimeric bcr-abl gene encodes a constitutively active tyrosine kinase that leads to abnormal transduction of growth and survival signals leading to chronic myeloid leukemia (CML). According to our previous observations, in vitro differentiation of several erythroid cell lines is accompanied by the downregulation of extracellular signal-regulated kinases (ERK)1/2 mitogen-activated protein kinase (MAPK) activities. In this work we investigated whether ERKs have a decisive role in either the erythroid differentiation process or apoptosis of bcr-abl+ K562 cells by means of direct (MEK1/2 inhibitor UO126) and indirect (reduced Bcr-Abl function) inhibition of their activities. We found that both Gleevec and UO126 induced hemoglobin expression. Gleevec treatment reduced the phosphorylation of Bcr-Abl, ERK and STAT-5 for up to 24 h, decreased Bcl-XL levels, and induced caspase-3-dependent apoptosis. In contrast, UO126 treatment resulted in only a transient decrease of ERK activity and did not induce cell death. For studying the effect of reduced Bcr-Abl function on erythroid differentiation at the level of the bcr-abl transcript, we applied the siRNA approach. Stable degradation of bcr-abl mRNA was achieved by using a retroviral vector with enhanced green fluorescent protein (EGFP) reporter. Despite a high (>90%) transduction efficiency we detected only a transient decrease in Bcr-Abl protein and in phosphorylated ERK1/2 levels. This transient change in Bcr-Abl signaling was sufficient to induce hemoglobin expression without significant cell death. These results suggest that by transiently reducing Bcr-Abl function it is possible to overcome the differentiation blockade without evoking apoptosis in CML cells and that reduced ERK activity may have a crucial role in this process.

Using focus groups to evaluate an education program.

Two evaluation studies were carried out in 1995 and 1997. The first evaluation assessed tile effectiveness of the Psychiatric Nurse Practitioner's education program and its impact on mental health and psychiatry in Belize. The second study was done to determine if the mental health services were sustained in the country. Interviews and focus groups were used for data collection. In this paper the focus is on the findings from the focus groups. The findings show that the PNP's role performance was adequate, they have made an impact on the mental health services and the services are sustained.

Using focus groups to evaluate an education program

Two evaluation studies were carried out in 1995 and 1997. The first evaluation assessed tile effectiveness of the Psychiatric Nurse Practitioner's education program and its impact on mental health and psychiatry in Belize. The second study was done to determine if the mental health services were sustained in the country. Interviews and focus groups were used for data collection. In this paper the focus is on the findings from the focus groups. The findings show that the PNP's role performance was adequate, they have made an impact on the mental health services and the services are maintained (Au)

Age, activity, and physical performance: an evaluation of performance models.

Two performance models relating age, physical activity, and physical performance were evaluated on 5 age cohorts involving more than 6,000 persons ranging in age from 20 to 69 years. Significant age and activity main effects, without 1 Age X Activity interaction, were obtained on 5 fitness measures and 2 activity indexes. These results are inconsistent with predictions from the moderation model, but they fit predictions from a recently formulated tonic and overpractice model of physical performance.

Age, exercise, and coding performance.

We investigated the effects of exercise on the coding performance of young and older subjects. Hypotheses were tested that exercise either facilitates spatial localization or reduces susceptibility to distraction in older subjects. In a balanced design, we administered Digit Symbol and Symbol Digit coding tasks to exercisers and nonexercisers at two age levels under conditions of low or high within-task interference. The findings showed higher performance by the exercisers than by the nonexercisers only at the older age level and only with the Symbol Digit task. These findings support the hypothesis that exercise compensates for a loss of spatial localization skills with age. We found no evidence that susceptibility to distraction either increased with age or was affected by chronic exercise.

The prediction of mortality in elderly institution residents.

The relationship between activity and mortality has been examined mainly in middle-aged and elderly community residents. This study investigated the prediction of five-year mortality in 156 institution residents, including a subsample (n = 121) retested one year after the initial assessment. The measures included demographic variables, three health indexes, happiness, quality of life ratings, personality and life stress indexes, cognitive function, and activity level. The strongest predictors of survival beyond five years from initial testing were a younger age and a high activity level. The relationships of age and activity to survival were mutually independent and were not secondary to the effects of any other variable. Health was not related to activity level and did not emerge as a strong predictor of survival. After a consideration of methodological issues, the findings were interpreted as providing support for an activity theory formulation of mortality prediction.

Effects on mood of a life-styles program for the rehabilitation of injured workers.

This study reports an examination into the effects on daily mood of participation in a life-styles program by injured workers. In the current prospective study, 14 participants completed the Memorial University Mood Scale (MUMS) prior to starting the program, at 1 month, 2 months, and at 3 months. They also completed the Memorial University Scale of Happiness (MUNSH) prior to entry and after three months. There were significant improvements on the MUMS subscales of positive mood and vigor as well as overall mood. There were no changes in negative mood. Neither the positive nor the negative dispositional subscales of the MUNSH revealed any change. The results were interpreted as indicating strong psychologic benefits of the life-styles program for injured workers and are also consistent with a recently proposed two-factor state/trait model of well-being.

Balance and age in the sighted and blind.

This study evaluated the usefulness of a balance test with eyes open and closed to index postural control capability. Experiment 1 was a one-year longitudinal study of 225 subjects aged 50 to 82 years. Comparing the two conditions, balance with eyes open had higher reliability, had greater sensitivity to aging effects, correlated stronger with functional age indices (vital capacity and forced expiratory volume), and showed greater sensitivity to the effects of physical fitness training. Experiment 2 included 22 visually impaired subjects aged 19 to 84 years. Minimally sighted subjects balanced for longer than fully blind subjects, but no differences in balance were found between subjects blind from birth versus those with acquired vision loss. The findings demonstrate the importance of vision to balance and indicate that balance with eyes open is a valid and sensitive test for clinical and research purposes.

Social desirability in measures of subjective well-being: a systematic evaluation.

The present investigation addressed the problem of a social desirability response bias in measures of psychological well-being. Data on 150 people, between the ages of 50 and 82, yielded high correlations between three measures of well-being (the MUNSH, the LSI-Z, and the PGC) and the Edwards Social Desirability Scale, but only moderate ones between well-being scales and the Marlowe-Crowne Social Desirability Scale. Part correlations between well-being measures and an external criterion of happiness, controlling for social desirability, failed to improve on the zero-order criterion/well-being relationship. Controlling for social desirability, therefore, does not enhance the construct validity of well-being scales. These and related results suggest that the high zero-order correlations between measures of well-being and the Edwards scale are more readily attributed to content similarity between the Edwards scale and measures of well-being than to a social desirability response bias in well-being measures.