52 research outputs found

    Prevalence of polycystic ovary syndrome in young women who had idiopathic central precocious puberty.

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    To assess the prevalence of polycystic ovary syndrome (PCOS) in a cohort of young women with previous idiopathic central precocious puberty (ICPP) at least 3 years after menarche, and to look for any predictive factors of PCOS at the time ICPP was diagnosed. DESIGN: Longitudinal study. PATIENT(S): Forty-six young women (18.1 +/- 3.0 years) who had been treated with GnRH analogues during childhood, observed at gynecologic age of 6.23 +/- 3.3 years. INTERVENTION(S): Semistructured interview concerning cycles, physical exam, blood sampling, and transabdominal pelvic ultrasound. MAIN OUTCOME MEASURE(S): Oligomenorrhea, LH, FSH, E(2), T, DHEAS, free T, delta4-androstenedione, 17-OHP, P, polycystic ovary morphology (PCOM). RESULT(S): Fifteen percent of the young women had oligomenorrhea, 28% clinical hyperandrogenism, 48% biochemical hyperandrogenism, and 37% PCOM. A total of 32% of the patients had PCOS according to the Rotterdam definition and 30% had PCOS according to the Androgen Exess Society. The prevalent phenotype of PCOS was characterized by clinical and/or biochemical hyperandrogenism and PCOM. We did not find any predictive factors for PCOS at the time ICPP was diagnosed. CONCLUSION(S): Patients with ICCP are prone to developing PCOS. The prominent phenotype in this cohort was PCOM associated with clinical and/or biochemical hyperandrogenism. Further follow-ups of these young adult patients will clarify whether this phenotype persists and if it will have important long-term implications regarding increased risk of infertility or metabolic complications

    Differential diagnosis of neurodegenerative dementias with the explainable MRI based machine learning algorithm MUQUBIA

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    Biomarker-based differential diagnosis of the most common forms of dementia is becoming increasingly important. Machine learning (ML) may be able to address this challenge. The aim of this study was to develop and interpret a ML algorithm capable of differentiating Alzheimer’s dementia, frontotemporal dementia, dementia with Lewy bodies and cognitively normal control subjects based on sociodemographic, clinical, and magnetic resonance imaging (MRI) variables. 506 subjects from 5 databases were included. MRI images were processed with FreeSurfer, LPA, and TRACULA to obtain brain volumes and thicknesses, white matter lesions and diffusion metrics. MRI metrics were used in conjunction with clinical and demographic data to perform differential diagnosis based on a Support Vector Machine model called MUQUBIA (Multimodal Quantification of Brain whIte matter biomArkers). Age, gender, Clinical Dementia Rating (CDR) Dementia Staging Instrument, and 19 imaging features formed the best set of discriminative features. The predictive model performed with an overall Area Under the Curve of 98%, high overall precision (88%), recall (88%), and F1 scores (88%) in the test group, and good Label Ranking Average Precision score (0.95) in a subset of neuropathologically assessed patients. The results of MUQUBIA were explained by the SHapley Additive exPlanations (SHAP) method. The MUQUBIA algorithm successfully classified various dementias with good performance using cost-effective clinical and MRI information, and with independent validation, has the potential to assist physicians in their clinical diagnosis

    Identification of skull base sutures and craniofacial anomalies in children with craniosynostosis: utility of multidetector CT

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    Craniosynostosis is a condition characterised by the premature fusion of one or more of the cranial sutures. The aim of the study was to identify, by multidetector computed tomography (CT), the involvement of vault sutures as well as of the skull base sutures (named "minor" sutures). The latter ones are involved in development of craniofacial and skull base deformities

    Beneficial Effect of Ursodeoxycholic Acid on High Glucose-Induced Long QT Interval Arrhythmia in Isolated Rat Heart

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    The aim of the present study was to investigate whether ursodeoxycholic acid (UDCA) could prevent the high glucose-induced long QT interval arrhythmia in isolated perfused rat heart Moreover, we studied whether UDCA could affect the cardiac expression of two arrhythmias-related miRNAs, miR-1 and miR-133 together with monitoring of caspase-3, caspase-9, ubiquitin-protesome system, Mn-SOD levels and NO bioavailability. Rat hearts perfused with standard Krebs solution containing 11.1 mmol D-glucose showed a cardiac QT interval of 107±11 ms and a coronary perfusion pressure (CPP) of 72±5 mmHg. These were increased by a Krebs containing 33.3 mmol D-glucose (e.g +98% QT interval; +79% CPP). The pretreatment of the rats with UDCA (150 mg/kg in drinking water for 12 weeks) prior to the heart excision while not affecting the QT interval and CPP in rats perfused with 11.1 mmol D-glucose it significantly reduced these parameters of -46% and -43% in rat perfused with D-glucose 33.3 mmol. The beneficial effect of UDCA on the cardiac instability caused by high glucose was also observed in an in vivo setting of rats made diabetics with streptozotocin (65 mg/kg i.p.). In these rats the basal cardiac parameters R-R interval, P-R interval and QT interval were not affected by UDCA. In both the in vitro and in vivo settings the reduction of QT interval operated by UDCA was associated to a reduction of the expression of miR-1 and miR-133, a reduction of the expression of the ubiquitin, proteasome, caspase-3, and caspase-9 into the hearts and by an increase of the expression of eNOS and nitrate/nitrite levels

    The issue of bone density in children treated with GnRH analogs for central precocious puberty.

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    Estrogens, growth hormones and IGFs are essential in the development and growth of the skeleton and for the maintenance of bone mass and density. Treatment of precocious puberty with gonadotropin-releasing hormone analogs (GnRHa), leads to a situation of hypoestrogenism by reducing sex-steroid levels, which, theoretically, may have a detrimental effect on bone mass during pubertal development. A reduction in bone mineral density during GnRHa treatment has been shown, but GnRHa treatment in patients with central precocious puberty does not seem to impair the achievement of normal peak bone mass at adult height. However, calcium supplementation is effective in improving bone densitometric levels and may promote better peak bone mass achievement
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