The violent crime in the 21st century

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The violent crime in the 21st century

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Corticotropinoma as a Component of Carney Complex.

Known germline gene abnormalities cause one-fifth of the pituitary adenomas in children and adolescents, but, in contrast with other pituitary tumor types, the genetic causes of corticotropinomas are largely unknown. In this study, we report a case of Cushing disease (CD) due to a loss-of-function mutation in PRKAR1A, providing evidence for association of this gene with a corticotropinoma. A 15-year-old male presenting with hypercortisolemia was diagnosed with CD. Remission was achieved after surgical resection of a corticotropin (ACTH)-producing pituitary microadenoma, but recurrence 3 years later prompted reoperation and radiotherapy. Five years after the original diagnosis, the patient developed ACTH-independent Cushing syndrome, and a diagnosis of primary pigmented nodular adrenocortical disease was confirmed. A PRKAR1A mutation (c.671delG, p.G225Afs*16) was detected in a germline DNA sample from the patient, which displayed loss of heterozygosity in the corticotropinoma. No other germline or somatic mutations of interest were found. As corticotropinomas are not a known component of Carney complex (CNC), we performed loss of heterozygosity and messenger RNA stability studies in the patient's tissues, and analyzed the effect of Prkar1a silencing on AtT-20/D16v-F2 mouse corticotropinoma cells. No PRKAR1A defects were found among 97 other pediatric CD patients studied. Our clinical case and experimental data support a role for PRKAR1A in the pathogenesis of a corticotroph cell tumor. This is a molecularly confirmed report of a corticotropinoma presenting in association with CNC. We conclude that germline PRKAR1A mutations are a novel, albeit apparently infrequent, cause of CD

Genetic research of the gene HNF1A responsible for diabetes mellitus type MODY3 in the greek population

Objective: Maturity-Onset Diabetes of the Young (MODY) is the most common type of monogenic diabetes accounting for 1–2% of the population with diabetes. The relative incidence of HNF1A-MODY (MODY3) is high in European countries; however, data are not available for the Greek population. The aims of this study were to determine the relative frequency of MODY3 in Greece, the type of the mutations observed, and their relation to the phenotype of the patients.Design and methods: Three hundred ninety-ve patients were referred to our center because of suspected MODY during a period of 15 yr. The use of Denaturing Gradient Gel Electrophoresis of polymerase chain reaction amplied DNA revealed 72 patients carrying Glucokinase gene mutations (MODY2) and 8 patients carrying HNF1A gene mutations (MODY3). After using strict criteria, 54 patients were selected to be further evaluated by direct sequencing or by multiplex ligation probe amplication (MLPA) for the presence of HNF1A gene mutations.Results: In 16 unrelated patients and 13 of their relatives, 15 mutations were identied in the HNF1A gene. Eight of these mutations were previously reported, whereas seven were novel. Clinical features, such as age of diabetes at diagnosis or severity of hyperglycemia, were not related to the mutation type or location.Conclusions: In our cohort of patients fullling strict clinical criteria for MODY, 12% carried an HNF1A gene mutation, suggesting that defects of this gene are responsible for a signicant proportion of monogenic diabetes in the Greek population. No clear phenotype–genotype correlations were identied.Εισαγωγή: Ο ΣΔτMODY είναι ο συχνότερος τύπος μονογονιδιακού διαβήτη και αφορά το 1-2 % όλου του διαβητικού πληθυσμού. Η σχετική συχνότητα του ΣΔτMODY3 είναι υψηλή στις Ευρωπαϊκές χώρες, αν και στοιχεία για τον ελληνικό πληθυσμό δεν είναι διαθέσιμα. Ο στόχος της μελέτης ήταν ο καθορισμός της σχετικής συχνότητας του ΣΔτMODY3 στην Ελλάδα, του είδους των μεταλλάξεων που παρατηρούνται και της συσχέτισής τους με το φαινότυπο των ασθενών.Σχεδιασμός και Μέθοδοι: Τριακόσιοι ενενήντα πέντε (395) ασθενείς παραπέμφθηκαν στο εργαστήριό μας σε διάρκεια 15 ετών. Με τη εφαρμογή της μεθόδου DGGE σε δείγματα πολλαπλασιασμένα με PCR, ανιχνεύθηκαν 72 ασθενείς με μεταλλάξεις του γονιδίου GCK (ΜΟDY2) και 8 με μετάλλαξη του γονιδίου HNF1Α (MODY3). Με την χρήση αυστηρών κριτηρίων, 54 επιπλέον ασθενείς επιλέχθηκαν για περαιτέρω διερεύνηση του γονιδίου HNF1Α με τη μέθοδο της απευθείας αλληλούχησης ή της μεθόδου MLPA.Αποτελέσματα: Σε 16 μη συγγενείς ασθενείς και 13 συγγενείς τους, ανιχνεύθηκαν 15 διαφορετικές μεταλλάξεις του γονιδίου HNF1A. Οκτώ από αυτές έχουν περιγραφεί προηγουμένως, ενώ οι επτά ήταν καινούριες. Τα κλινικά χαρακτηριστικά, όπως η ηλικία διάγνωσης του διαβήτη ή η σοβαρότητα της νόσου, δεν σχετίζονταν με το είδος της μετάλλαξης ή τη θέση της στο γονίδιο.Συμπεράσματα: Στην ομάδα των ασθενών μας που πληρούσαν τα αυστηρά κλινικά κριτήρια για MODY, 12% έφεραν μετάλλαξη του γονιδίου HNF1A, υποδεικνύοντας ότι διαταραχές του γονιδίου είναι υπεύθυνες για σημαντικό ποσοστό μονογονιδιακού διαβήτη στον ελληνικό πληθυσμό. Δεν διαπιστώθηκε σαφής συσχέτιση φαινοτύπου-γονοτύπου

EMOCIONALNA INTELIGENCIJA U AKROBATSKOJ GIMNASTICI: KOLIKO JE VAŽAN PROFIL SPORTISTE?

Emotional intelligence (EI) is considered to be an important parameter in the world of sports, as it affects the athletic performance and wellbeing of athletes. The purpose of this study was to examine EI in athletes of Acrobatic gymnastics (ACROGYM). Furthermore, potential differences in EI that may be associated with athletic profile (age, years of participation in ACROGYM, number of competitions, competition category) were investigated. In total, 95 acrobatic gymnasts, 9-18 years old (15.92 ± 3.17 years) participated voluntarily. The athletes’ EI was assessed with the Emotional Quotient Inventory-Youth Version (EQ-i: YV), culturally adapted for the Greek population. According to the results, the ACROGYM athletes presented high levels of EI. However, the correlation analyses revealed that the association between the athletes’ profile and scores on EI scales was not statistically significant (p >.05). The t-tests and the MANOVAs applied showed no statistically significant differences in the EI subscales associated with gymnasts’ (a) participation in national competitions (p > .05); (b) frequency of training sessions per week (p > .05); (c) (not) being a member of a duet or a trio (p > .05); (d) position in the group (base, middle, top). It can be concluded that Greek acrobatic gymnasts present high levels of EI regardless of their age, their sport's experience or their level of performance. Moreover, neither their participation in a group nor their role in it seem to differentiate the dimensions of EI. Nevertheless, further research is needed in order to shed more light into EI in gymnastics.Emocionalna inteligencija (EI) smatra se važnim parametrom u sportskom svetu, s obzirom na to da utiče na sportske performanse i dobrobit sportista. Cilj ovog istraživanja bio je da se analizira EI sportista koji se takmiče u akrobatskoj gimnastici (ACROGYM). Potencijalne razlike u EI koje se mogu povezati sa profilom sportiste (godine starosti, godine bavljenja ACROGYM, broj takmičenja na kojima je sportista učestvovao, rang takmičenja) takođe su analizirane. Ukupno je 95 akrobatskih gimnastičara, starosti 9-18 godina (15.92 ± 3.17 years), dobrovoljno učestvovalo u istražvanju. Njihova EI analizirana je uz pomoć EQ-i: YV upitnika, koji je prilagođen populaciji grčkih sportista. Kod ACROGYM atletičara uočeni su visoki nivoi EI. Uprkos tome, korelaciona analiza je utvrdila da korelacije između profila sportista i vrednosti na EI nisu bile statistički značajne (p >.05). T-testom i MANOVA analizom nisu utvrđene statistički značajne razlike za EI podskale za (a) učešće na nacionalnim takmičenjima (p > .05); (b) broj treninga nedeljno (p > .05); (c) (ne)učestvovanje u dublu ili triu (p > .05); (d) mesto u timu prilikom ekipnog nastupa. Može se zaključiti da grčki akrobatski gimnastičari imaju visoke nivoe EI uprkos njihovim godinama starosti, iskustva u sportu, i sportskih performansi. Ni njihovo učešće u timskim nastupima ni njihova uloga u timu ne utiču na razlike u dimenzijama EI. Ipak, dalja istraživanja su neophodna kako bi se bolje razumela uloga EI u gimnastici

Μελέτη της Συναισθηματικής Νοημοσύνης σε αθλητές Ακροβατικής Γυμναστικής

Ο αθλητισμός αποτελεί ένα πλαίσιο που συνδέεται άμεσα με τη Συναισθηματική Νοημοσύνη (ΣΝ), η οποία με τη σειρά της είναι σημαντική για πολλούς τομείς της ζωής. Σκοπός της παρούσας μελέτης ήταν η εξέταση της ΣΝ αθλητών ακροβατικής γυμναστικής. Το δείγμα αποτέλεσαν 95 αθλητές/-τριες ακροβατικής γυμναστικής, ηλικίας 9-25 ετών, από διαφορετικούς συλλόγους της Αττικής και των άλλων περιοχών της Ελλάδας. Για την αξιολόγηση της ΣΝ χρησιμοποιήθηκε το Emotional Quotient Inventory-Youth Version (EQ-i: YV, Bar-On & Parker, 2000). Από τα αποτελέσματα βρέθηκε πως τόσο η ηλικία, όσο και τα χρόνια ενασχόλησης των συμμετεχόντων με την ακροβατική γυμναστική, αλλά και ο αριθμός των αγώνων στους οποίους είχαν συμμετάσχει δεν εμφάνισαν στατιστικά σημαντική συσχέτιση με τις διαστάσεις της ΣΝ, με εξαίρεση την υποκλίμακα της προσαρμοστικότητας, η οποία βρέθηκε να έχει στατιστικά σημαντική αδύναμη συσχέτιση με τα χρόνια ενασχόλησης με την ακροβατική γυμναστική (r= 27.3, p= .007). Επίσης, δεν υπήρξε στατιστικά σημαντική συσχέτιση της κατηγορίας στην οποία έχουν συμμετάσχει οι αθλητές με καμία από τις συνιστώσες της ΣΝ. Επιπλέον, δεν υπήρξε διαφορά στις διαστάσεις της ΣΝ ανάλογα με το αν ο/η αθλητής/-τρια συμμετείχε σε δυάδα, τριάδα ή δεν είχε ενταχθεί ακόμα σε κάποιο σχήμα, ούτε και με τη θέση τους στις δυάδες και τριάδες. Τέλος, διαπιστώθηκε ότι η συνολική ΣΝ των αθλητών ακροβατικής γυμναστικής ήταν υψηλή, γεγονός που οδηγεί στο συμπέρασμα ότι οι αθλητές ήταν συναισθηματικά ευφυείς, όμως τα επίπεδα της γενικής διάθεσης ήταν ιδιαίτερα χαμηλά. Αυτό ενδεχομένως οφείλεται στη μη συμμετοχή των αθλητών στις προπονήσεις και τους αγώνες τους, λόγω της πολύμηνης καραντίνας που είχε επιβληθεί λόγω της πανδημίας COVID-19.Sport is a context that is directly linked to Emotional Intelligence (EI), which in turn is important for many areas of life. The purpose of this study was to examine the EI of acrobatic gymnastics athletes. Ninety five athletes of acrobatic gymnastics, 9-25 years of age, from different athletic clubs in Attica and other regions of Greece, participated in the study. For the assessment of EI, the Emotional Quotient Inventory-Youth Version (EQ-i: YV, Bar-On & Parker, 2000) was used. The results showed that both the age and the years of involvement of the participants in acrobatic gymnastics, as well as the number of competitions in which they had participated did not show a statistically significant correlation with the dimensions of EI, with the exception of the adaptability subscale, which was found to have a statistically significant weak correlation with years of involvement with acrobatic gymnastics (r = 27.3, p = .007). Also, there was no a statistically significant correlation between the category in which the athletes participated and any of the components of EI. In addition, there were no differences in the dimensions of EI among (a) those who participated in a duo, triad or had not yet joined in any group and (b) those who had a different position in duos or triads. Finally, it was found that the total EI of participants was high, which leads to the conclusion that athletes were emotionally intelligent, but general mood levels were particularly low. This may be due to the non-participation of athletes in their training sessions and competitions, due to the many months of quarantine imposed by the pandemic COVID-19

First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism

Monogenic Diabetes is relatively rare, representing only 1-2% of total diabetes cases; nevertheless, it is often misdiagnosed primarily as type 1 diabetes, leading to unnecessary insulin therapy and delayed recognition of affected family members. In the present article, we describe a case of a young, male patient who presented with hyperglycemia in the absence of ketosis and following genetic testing; he proved to harbor the loss-of-function p.Arg1353His (c.4058G>A) mutation in the ABCC8 gene, inherited from his mother. This mutation has been previously described in patients with Congenital Hyperinsulinism. Furthermore, different mutations in the ABCC8 gene have been linked with MODY 12, type 2, and gestational diabetes; however, to the best of our knowledge, this is the first report that associates this specific mutation with diabetes phenotype. ABCC8-related diabetes is characterized by remarkable heterogeneity in terms of clinical presentation and therapeutic approach. Early diagnosis and individualized treatment are essential to achieving metabolic targets and avoiding long-term diabetes complications

Incidence of Autoimmune and Related Disorders After Resolution of Endogenous Cushing Syndrome in Children

Glucocorticoids are widely used for immunosuppression in autoimmune diseases. After the resolution of hypercortisolemia, the immune system recovers allowing for autoimmune diseases to manifest. Here we investigated the presence of autoimmune and related diseases that developed after cure of endogenous Cushing syndrome (CS) in children. We identified 129 children who were diagnosed and successfully treated for endogenous CS at the National Institutes of Health from 1997 until 2017, and who were followed for at least 6 months after treatment. We performed a retrospective chart review analysis to identify the presence of autoimmune or related diseases after cure. Ten children were diagnosed with a new autoimmune or related disorder after resolution of hypercortisolemia. This results in a frequency of 7.8% of our pediatric CS population. The identified patients had a shorter duration of hypercortisolemia prior to diagnosis, but did not otherwise differ from the remaining patients. The various identified diseases were: celiac disease (n=1), psoriasis (n=1), Hashimoto thyroiditis (n=1), Graves disease (n=1), optic neuritis (n=2), skin hypopigmented lesions/vitiligo (n=2), allergic rhinitis/asthma (n=1), and neuropathy responding to glucocorticoid treatment (n=1). The reported time between the treatment of CS and diagnosis of autoimmune disorder ranged from 6 to 19 months. The presence of autoimmune or related diseases might be masked by the hypercortisolemic state in endogenous CS. After resolution of hypercortisolemia, the presentation of new autoimmune diseases or recurrence of previously known autoimmune conditions should be considered when concerning symptoms arise