Screening of Congenital Hypothyroidism in North-East Romania. Benefits and Messages for Further Improvement.

BACKGROUND: If not diagnosed at birth, congenital hypothyroidism (CH) can cause deleterious, irreversible neurodevelopmental sequels. The importance of thyroid newborn screening (NBS) is therefore well established. OBJECTIVE: To evaluate the efficacy of NBS for CH in North-East Romania. METHODS: Retrospective, descriptive study involving 271662 newborns screened between 2010 and 2019 for CH and phenylketonuria in maternities from six Romanian North-Eastern counties by measuring neonatal TSH (neoTSH) in the whole blood extracted from the heel between days 3 and 5 after birth. Values found higher than a cut-off level of 10 mIU/L were followed by serum evaluation of TSH and fT4 for the confirmation of CH. Thyroid ultrasound was further performed at children found with CH. RESULTS: NeoTSH was found elevated in 417 newborns, but CH was subsequently confirmed in only 57 cases (1/4766 newborns). Mean age at the time when diagnosis was communicated was of 37.2 ± 15 days (between 9 and 157 days). Mean age when therapy was started was of 44.2 ± 17.9 days (between 13 and 160 days) with a mean delay of one week from diagnosis (between 0 and 62 days). Thyroid ultrasound revealed athyreosis in only 3 cases, atrophic thyroid gland in other 10 cases, whereas the thyroid was described as present in the remnant 44 cases. The number of first year follow-up visits greatly varied from 0 to 5, with an average of 2. CONCLUSIONS: NBS allowed rapid diagnosis of CH in North East Romania. The communication of diagnosis to families and therapy onset were however often delayed. Diagnosis and therapy onset before the age of two weeks, as well as a tighter follow-up should be assured by the healthcare system. Etiological diagnosis should be more accurate, for a better prognosis of disease severity, as well as the possibility of genetic advice in selected cases.

VARIATIONS OF ADIPOKINE PROFILE IN PATIENTS DIAGNOSED WITH RECTAL CARCINOMA.

BACKGROUND: Adipokine secretion is influenced by various disease conditions. PURPOSE: We wanted to check the impact of rectal carcinoma (RC) on adipokine profile. PATIENTS AND METHODS: We evaluated serum leptin and adiponectin levels in 24 RC patients (12 males and 12 females) as well as in the same number of age, sex and weight-matched healthy controls. RESULTS: Adipokines were oppositely correlated with body weight (BW) in controls and RC patients. Women had higher adipokine levels than men. Healthy controls had higher leptin (37.6.±7.8 vs. 7.9±2.6 ng/mL in women and 11.9±4.6 vs. 1.4±0.34 ng/mL in men, p=0.0016 and 0.043) and lower adiponectin levels (9.3±1.1 vs. 14.9±1.1 µg/mL in women and 7.9±0.9 vs. 11.1±0.9 µg/mL in men, p=0.012 and 0.017) than RC patients. CONCLUSION: Adipokine profiles of patients with RC differ from the healthy population, possibly reflecting an adaptation to the disease rather than a triggering factor. These differences may find clinical applications for the prognosis of disease evolution.

Body composition and circulating estradiol are the main bone density predictors in healthy young and middle-aged men.

PURPOSE: Current fracture risk assessment options in men call for improved evaluation strategies. Recent research directed towards non-classic bone mass determinants have often yielded scarce and conflicting results. We aimed at investigating the impact of novel potential bone mass regulators together with classic determinants of bone status in healthy young and middle-aged men. METHODS: Anthropometric measurements, all-site bone mineral density (BMD) and body composition parameters assessed by dual-energy X-ray absorptiometry and also serum concentrations of (1) the adipokines leptin and resistin, (2) vitamin D and parathormone (PTH), (3) sex hormone binding globulin (SHBG), total testosterone and estradiol (free testosterone was also calculated) and (4) C-terminal telopeptide of type I collagen (CTx) were obtained from 30 apparently healthy male volunteers aged 20-65 years enrolled in this cross-sectional study. RESULTS: Only lean mass (LM) and total estradiol independently predicted BMD in men in multiple regression analysis, together explaining 49% (p ≤ 0.001) of whole-body BMD variance. Hierarchical regression analysis with whole-body BMD as outcome variable demonstrated that the body mass index (BMI) beta coefficient became nonsignificant when LM was added to the model. Adipokines, fat parameters, testosterone (total and free), SHBG, PTH and vitamin D were not independently associated with BMD or CTx. CONCLUSIONS: The present study shows that LM and sex hormones-namely estradiol-are the main determinants of bone mass in young and middle-aged men. The effects of BMI upon BMD seem to be largely mediated by LM. Lifestyle interventions should focus on preserving LM in men for improved bone outcomes.

Interferon-γ responses to Plasmodium falciparum vaccine candidate antigens decrease in the absence of malaria transmission.

BACKGROUND: Malaria elimination campaigns are planned or active in many countries. The effects of malaria elimination on immune responses such as antigen-specific IFN- γ responses are not well characterized. METHODS: IFN- γ responses to the P. falciparum antigens circumsporozoite protein, liver stage antigen-1, thrombospondin-related adhesive protein, apical membrane antigen-1, MB2, and merozoite surface protein-1 were tested by ELISA in 243 individuals in highland Kenya in April 2008, October 2008, and April 2009, after a one-year period of interrupted malaria transmission from April 2007 to March 2008. RESULTS: While one individual (0.4%) tested positive for P. falciparum by PCR inOctober 2008 and another two (0.9%) tested positive in April 2009, no clinical malaria cases were detected during weekly visits. Levels of IFN-γ to all antigens decreased significantly from April 2008 to April 2009 (all P < 0.001). DISCUSSION: Naturally acquired IFN- γ responses to P. falciparum antigensare short-lived in the absence of repeated P. falciparum infection. Even short periods of malaria interruption may significantly decrease IFN-γ responses to P. falciparum antigens.

99mTc MIBI THYMIC SCINTIGRAPHY IN DIAGNOSIS AND THERAPEUTIC DECISION MAKING: WHAT IS BEHIND THE IMAGE?

CONTEXT: Despite CT being generally used in thymic pathology, in the case of regions with the same tissue density, only functional radioisotopic imaging can hint towards malignity. OBJECTIVES: To assess the usefulness of 99mTc MIBI scintigraphy for diagnosis and treatment planning in thymoma, in relation with the radiotracer uptake mechanism. PATIENTS AND METHODS: 99mTc MIBI thymic scans for 19 patients diagnosed with thymic disorders were assessed using tumor uptake ratio (UR). Specimens of thymectomies were examined and cytological assessments were correlated with the UR. RESULTS: The UR of all surgical patients was higher than 1.2, with a 1.5 cutoff between lymphoid hyperplasia and thymoma. The UR values were correlated with the histopathologic diagnosis (Pearson correlation 0.91, significant at p<0.01). The highest UR was 3.24, found in the case of an AB thymoma where the rate lymphocytes/epithelial cells (L/E) was 1.6. In B1 thymoma UR was 1.14 and L/E was 2.46. CONCLUSION: Phenotype differences between thymoma types correlate with 99mTc MIBI cellular uptake: lower rate L/E corresponds to higher UR, higher malignity potential and invasiveness. A thymic 99mTc MIBI UR higher than 1.5, corresponding to a CT tumoral image, is suggestive for a thymoma, requiring surgical treatment first.