Associations between paraclinical parameters, symptoms and quality of life in patients with acromegaly: a cross sectional study.

INTRODUCTION: Acromegaly is a rare chronic endocrine disorder that can lead to significant quality of life (QoL) impairment and persistent symptomatology in both biochemically uncontrolled as well as in cured or controlled patients. We aimed to conduct an observational cross-sectional study investigating the associations between biochemical disease control, associated comorbidities, and symptoms severity on QoL in a cohort of acromegalic patients. METHODS: Thirty-one patients with acromegaly were enrolled in our study. AcroQoL and PASQ (Pain assessed acromegaly symptoms questionnaire) questionnaires were applied to all patients. Information about disease status, associated comorbidities, and other relevant clinical and paraclinical data were gathered. RESULTS: Patients with uncontrolled acromegaly presented worse QoL and symptoms scores than controlled patients, but the difference was not statistically significant (AcroQoL 57.22 vs 64.04, p > 0.05; PASQ 12 vs 16.47, p > 0.05). Worse symptoms were significantly associated with impaired QoL (overall symptoms score on PASQ was negatively correlated with AcroQoL total score, r = - 0.61, p < 0.05). Cardiovascular complications were associated with lower QoL scores, but not with worse symptoms (AcroQoL total score in patients with- versus patients without cardiovascular complications: 54.89 vs 70.14, p < 0.05). CONCLUSIONS: Achieving biochemical control of acromegaly might not be enough to reverse the QoL impairment and improve symptomatology in acromegalic patients. While symptoms severity and the presence of cardiovascular complications seem to play an important role in reducing patients QoL, the roles of disease control, diabetes, and pituitary insufficiency are less clear.

Molecular and Cytogenetic Analysis of Romanian Patients with Differences in Sex Development.

Differences in sex development (DSD) are often correlated with a genetic etiology. This study aimed to assess the etiology of DSD patients following a protocol of genetic testing. MATERIALS AND METHODS: This study prospectively investigated a total of 267 patients with DSD who presented to Clinical Emergency Hospital for Children Cluj-Napoca between January 2012 and December 2019. Each patient was clinically, biochemically, and morphologically evaluated. As a first intervention, the genetic test included karyotype + SRY testing. A high value of 17-hydroxyprogesterone was found in 39 patients, in whom strip assay analysis of the CYP21A2 gene was subsequently performed. A total of 35 patients were evaluated by chromosomal microarray technique, and 22 patients were evaluated by the NGS of a gene panel. RESULTS: The karyotype analysis established the diagnosis in 15% of the patients, most of whom presented with sex chromosome abnormalities. Genetic testing of CYP21A2 established a confirmation of the diagnosis in 44% of patients tested. SNP array analysis was particularly useful in patients with syndromic DSD; 20% of patients tested presented with pathogenic CNVs or uniparental disomy. Gene panel sequencing established the diagnosis in 11 of the 22 tested patients (50%), and the androgen receptor gene was most often involved in these patients. The genes that presented as pathogenic or likely pathogenic variants or variants of uncertain significance were RSPO1, FGFR1, WT1, CHD7, AR, NIPBL, AMHR2, AR, EMX2, CYP17A1, NR0B1, GNRHR, GATA4, and ATM genes. CONCLUSION: An evaluation following a genetic testing protocol that included karyotype and SRY gene testing, CYP21A2 analysis, chromosomal analysis by microarray, and high-throughput sequencing were useful in establishing the diagnosis, with a spectrum of diagnostic yield depending on the technique (between 15 and 50%). Additionally, new genetic variants not previously described in DSD were observed.

Plasma RBP4 Level in Association with Body Composition, Metabolic Profile, STRA6 and RBP4 Gene Polymorphisms in Obese Romanian Children.

BACKGROUND: Pediatric obesity continues to remain a serious health concern which has significantly increased the morbidity risk in adulthood. Recent studies have analyzed the impact of the two adipokines, RBP4 (retinol binding protein 4) and STRA6 (stimulated by retinoic acid 6) in pediatric obese subjects with contradictory results. METHODS: An observational study was conducted in the Pediatric and Endocrinology Departments, Targu-Mures, Romania, including 213 children between 5-17 years of age, divided into two groups according to body mass index (BMI) standard deviation score (SDS): case (overweight or obese) and control (normal SDS). Age, sex, basic anthropometric and biochemical measurements and genotype of rs3758539, and rs10882280 for RBP4 gene and rs974456 and rs351224 of STRA6 gene were analyzed. Statistical analysis used SPSS v. 25.0, with a level of significance α = 0.05. RESULTS: There is no association between the two gene's polymorphisms and obesity in our pediatric population. In regression analysis, with HOMA IR (homeostatic model assessment of insulin resistance) as the outcome, the plasmatic level of RBP4 and fat mass percentage are significant predictors, with the model explaining 42% of the HOMA variability. Hypercholesterolemia was significantly associated with male sex, carrying variant allele and heterozygote status of rs10882280 RBP4 gene and wild-type allele rs351224 of STRA6 gene. CONCLUSION: There is no significant association between obesity and SNPs of the RBP4 and STRA6 in our population, but they seem to play a role in insulin resistance and hypercholesterolemia.

Evaluation of the Hungarian-language SARC-F sarcopenia-screening questionnaire / A SARC-F sarcopeniaszuro kérdoív magyar változatának értékelése.

Összefoglaló. Bevezetés: A sarcopenia - idoskori izomero- és izomtömeg-csökkenés - a természetes öregedés része, ha viszont súlyos muködési zavarokat okoz, már betegségnek tekintendo. Ezért a szövodményes, rossz kimenetelek mérsékléséhez minél korábbi felismerése nélkülözhetetlen. Célkituzés: A sarcopenia kockázatának gyors értékelésére a SARC-F szerzoi egyszeru szuro kérdoívet alkottak, amelyet a sarcopeniát meghatározó diagnosztikus ajánlások kiemelten javallanak. E kérdoív magyar változatának jellemzoit vizsgáltuk, annak validálása céljából. Módszer: A kérdoívet 105, 65 éves vagy ennél idosebb személy bevonásával teszteltük. Az izomtömeg, az izomero és a teljesítmény értékelése elott a résztvevok kitöltöttek két generikus, valamint egy betegségspecifikus életminoség-kérdoívet. A megbízhatóság, konvergens, divergens, valamint konstruktumérvényesség vizsgálata mellett az eszköz diagnosztikus alkalmasságát is teszteltük. Statisztikai analízis: A Cronbach-alfa-érték, a Spearman/Pearson-féle korrelációs koefficiensek, a khi-négyzet-teszt, a szenzitivitás, a specificitás meghatározásához, a pozitív és negatív predikciós számításokhoz az SPSS 17.0 programot használtuk. Eredmények: A sarcopenia várható kockázata a SARC-F-teszt szerint (≥4 pont) 36%, míg az európai konszenzusdefiníció alapján sarcopeniásnak minosített esetek elofordulása 40% volt. A sarcopeniás egyéneknek jelentosen magasabb - domének szerinti és összesített - SARC-F-pontjaik voltak. A kérdoívet nagyon jó belso konzisztencia (Cronbach-alfa: 0,755), jó specificitás és magas negatív predikciós értékek jellemezték. Következtetés: A SARC-F magyar változata megbízható eszköznek tekintheto a sarcopenia kockázatának gyors és olcsó elorejelzésére. Orv Hetil. 2020; 161(47): 2000-2005. INTRODUCTION: Sarcopenia is an age-related involution process, causing a significant functional disability, therefore it can be classified as a disease. Early recognition of the disease is essential. Objetive: Authors of the original SARC-F questionnaire developed a simple and rapid screening tool, recommended by the European Working Group on Sarcopenia as the mandatory first step in the diagnostic process of sarcopenia. Our study aimed to test and validate the Hungarian version of this instrument. METHOD: 105 volunteers of 65+ years were recruited and evaluated for sarcopenia (muscle mass, strength and performance). Participants completed the SARC-F, other two generic and one disease-specific quality-of-life questionnaires. We checked the instrument for reliability, validity (discriminative power, construct, convergent and divergent validity) and screening performance. STATISTICAL ANALYSIS: Cronbach's alpha test, the Pearson/Spearman's correlation coefficient, chi-square test, sensitivity, specificity, positive and negative predictive value calculations have been performed. The SPSS 17.0 statistical program was used. RESULTS: The prevalence of sarcopenia according to the SARC-F test (score: ≥4) was 36%, while 40% was diagnosed with the European consensus definition. Sarcopenic individuals had significantly higher SARC-F total and domain scores. Very good internal consistency (Cronbach's alpha 0.755), specificity and negative predictive values were found. CONCLUSION: A reliable, rapid and inexpensive sarcopenia indicator is now available to timely detect the Hungarian-speaking patients at risk of sarcopenia. Orv Hetil. 2020; 161(47): 2000-2005.

The influence of Visfatin, RBP-4 and insulin resistance on bone mineral density in women with treated primary osteoporosis.

INTRODUCTION: The impact of the two adipokines, visfatin and retinol-binding protein 4 (RBP-4) on bone mineral density (BMD) has been analysed in various studies with conflicting results. Visfatin is highly expressed in visceral fat with stimulatory effect on osteoblast proliferation and inhibition on osteoclast formation, while RBP-4 acts as a transporter protein for retinol, associated with changes in insulin sensitivity, independent of obesity, with no consensus on its effect on bone metabolism. We evaluated the relationship between serum concentrations of visfatin, RBP-4, markers of insulin resistance and current BMD in treated postmenopausal osteoporosis (PO). METHODS: Demographics, previous treatment, metabolic status, anthropometry, serum Alkaline phosphatise (ALP), visfatin, RBP-4, the HOMA IR (homeostatic model assessment of insulin resistance) index and BMD were evaluated in 61 subjects with PO. Statistical analysis used SPSS v. 25.0, with a level of significance α = 0.05. Regression models were constructed to evaluate the relationship between adipokines and BMD, adjusting for covariates. RESULTS: In multilinear regression analysis, the strongest predictor for current BMD was a previous BMD, followed by ALP and age. RBP4 and HOMA IR were significant predictors, while visfatin had no significant effect. A significant correlation between body mass index (BMI) and BMD at the femoral neck was observed. ALP was negatively correlated with BMD and visfatin positively with RBP4. CONCLUSIONS: Data indicate a positive relationship between BMD and RBP-4, an inverse relationship between markers of insulin resistance, bone turn-over and current BMD. No significant effect of visfatin on BMD was observed.

Correction to: Psychometric performance of the Romanian version of the SarQoL®, a health-related quality of life questionnaire for sarcopenia.

The name and surname of the authors have been inverted. The correct order would be like this: Andrea Ildiko Gasparik, Gabriela Mihai, Charlotte Beaudart, Olivier Bruyere, Raluca-Monica Pop, Jean-Yves Reginster, Ionela Maria Pascanu.

Psychometric performance of the Romanian version of the SarQoL®, a health-related quality of life questionnaire for sarcopenia.

Our study assessed the psychometric properties of the Romanian SarQoL® questionnaire. Normal distribution and high internal consistency were found. Sarcopenic subjects reported a reduced global quality of life compared to non-sarcopenics. The Romanian version of the SarQoL® questionnaire, conceptually and literally equivalent with the source instrument, is qualified in terms of psychometric properties. PURPOSE/INTRODUCTION: We have recently provided a translated and culturally tailored version of the first quality of life (QoL) questionnaire specific for sarcopenia, the SarQoL®, in Romanian language. The aim of this study was to assess the psychometric performances of the translated questionnaire. METHODS: A total of 100 volunteers were enrolled in the study. Sarcopenia was diagnosed according to the algorithm proposed by the European Working Group on Sarcopenia in Older People (EWGSOP). To test the psychometric performance, discriminative power, internal consistency, floor and ceiling effects, and construct validity analyses were made. We assessed the correlation between SarQoL® and similar/different domains of other two QoL questionnaires. RESULTS: Sarcopenic subjects reported a reduced global QoL compared to non-sarcopenic individuals. Significantly (p = 0.018) higher total scores for non-sarcopenic subjects compared to those of sarcopenics indicate a good discriminative power of the Romanian questionnaire. Sarcopenic individuals had significantly lower scores in almost all domains. The Cronbach's alpha value of 0.946 indicates a high internal consistency. No floor or ceiling effects were found. A strong positive correlation was also found between similar domain scores from SF-36 and EQ-5D questionnaires with the Total SarQoL® score. Moreover, lower scores of quality of life have been shown to be significantly associated with lower muscle strength, in univariate analyses, and lower gait speed, both in univariate and multivariate analyses. CONCLUSIONS: Our results indicate that the Romanian version of the SarQoL® questionnaire, qualified in terms of psychometric properties, could be a useful tool to assess the sarcopenia-related QoL among frail Romanian individuals.