30 research outputs found

    Idiopathic isolated clitoromegaly: A report of two cases

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    BACKGROUND: Clitoromegaly is a frequent congenital malformation, but acquired clitoral enlargement is relatively rare. METHODS: Two acquired clitoromegaly cases treated in Atatürk Training Hospital, Izmir, Turkey are presented. RESULTS: History from both patients revealed clitoromegaly over the last three years. Neither gynecological nor systemic abnormalities were detected in either patient. Karyotype analyses and hormonal tests were normal. Abdominal and gynaecological ultrasound did not show any cystic lesion or other abnormal finding. Computerized tomography scan of the adrenal glands was normal. Clitoroplasty with preservation of neurovascular pedicles was performed for the treatment of clitoromegaly. CONCLUSION: The patients were diagnosed as "idiopathic isolated" clitoromegaly. To the best of our knowledge, there has been no detailed report about idiopathic clitoromegaly in the literature

    Risk Factors for Prognosis in Patients With Severely Decreased GFR

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    Introduction: Patients with chronic kidney disease (CKD) and estimated glomerular filtration rate (eGFR) < 30 ml/min per 1.73 m 2 (corresponding to CKD stage G4+) comprise a minority of the overall CKD population but have the highest risk for adverse outcomes. Many CKD G4+ patients are older with multiple comorbidities, which may distort associations between risk factors and clinical outcomes. Methods: We undertook a meta-analysis of risk factors for kidney failure treated with kidney replacement therapy (KRT), cardiovascular disease (CVD) events, and death in participants with CKD G4+ from 28 cohorts (n = 185,024) across the world who were part of the CKD Prognosis Consortium. Results: In the fully adjusted meta-analysis, risk factors associated with KRT were time-varying CVD, male sex, black race, diabetes, lower eGFR, and higher albuminuria and systolic blood pressure. Age was associated with a lower risk of KRT (adjusted hazard ratio: 0.74; 95% confidence interval: 0.69–0.80) overall, and also in the subgroup of individuals younger than 65 years. The risk factors for CVD events included male sex, history of CVD, diabetes, lower eGFR, higher albuminuria, and the onset of KRT. Systolic blood pressure showed a U-shaped association with CVD events. Risk factors for mortality were similar to those for CVD events but also included smoking. Most risk factors had qualitatively consistent associations across cohorts. Conclusion: Traditional CVD risk factors are of prognostic value in individuals with an eGFR < 30 ml/min per 1.73 m 2, although the risk estimates vary for kidney and CVD outcomes. These results should encourage interventional studies on correcting risk factors in this high-risk population

    Cohort Profile: Post-Hospitalisation COVID-19 (PHOSP-COVID) study

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    Risk Factors for Prognosis in Patients With Severely Decreased GFR

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    Introduction: Patients with chronic kidney disease (CKD) and estimated glomerular filtration rate (eGFR) &lt;30 ml/min per 1.73 m2 (corresponding to CKD stage G4þ) comprise a minority of the overall CKD population but have the highest risk for adverse outcomes. Many CKD G4þ patients are older with multiple comorbidities, which may distort associations between risk factors and clinical outcomes.Methods: We undertook a meta-analysis of risk factors for kidney failure treated with kidney replacement therapy (KRT), cardiovascular disease (CVD) events, and death in participants with CKD G4þ from 28 cohorts (n ¼ 185,024) across the world who were part of the CKD Prognosis Consortium.Results: In the fully adjusted meta-analysis, risk factors associated with KRT were time-varying CVD, male sex, black race, diabetes, lower eGFR, and higher albuminuria and systolic blood pressure. Age was associated with a lower risk of KRT (adjusted hazard ratio: 0.74; 95% confidence interval: 0.69–0.80) overall, and also in the subgroup of individuals younger than 65 years. The risk factors for CVD events included male sex, history of CVD, diabetes, lower eGFR, higher albuminuria, and the onset of KRT. Systolic blood pressure showed a U-shaped association with CVD events. Risk factors for mortality were similar to those for CVD events but also included smoking. Most risk factors had qualitatively consistent associations across cohorts.Conclusion: Traditional CVD risk factors are of prognostic value in individuals with an eGFR &lt;30 ml/min per 1.73 m2, although the risk estimates vary for kidney and CVD outcomes. These results should encourage interventional studies on correcting risk factors in this high-risk population.</br

    Chromosome abnormalities, mental retardation and the search for genes in bipolar disorder and schizophrenia

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    Genetic factors contribute to schizophrenia and bipolar disorder, and linkage and association studies have been successful in identifying several candidate genes. However these genes explain only a very small part of the total population risk and the psychoses appear to be very heterogeneous with several models of genetic inheritance relevant to different groups of patients, including some cases caused by multiple common genetic variants, while others are single gene disorders. Studying chromosomal abnormalities is a useful strategy for identifying genes in illness, and patients with both mental retardation and psychosis form a special group where large chromosomal abnormalities detected by routine cytogenetic analysis are more prevalent than in patients with schizophrenia or bipolar disorder alone, or in the general population. Studying these patients provides valuable opportunities to identify genes contributing to psychoses. This review of the literature on large chromosomal rearrangements in patients with mental retardation and psychotic illness illustrates how schizophrenia and bipolar phenotypes are associated with a large number of different chromosomal disruptions. Recent genome wide association studies have identified an excess of small chromosomal deletions and duplications in schizophrenia, adding further support to the importance of chromosomal structural variation in psychotic illness. The genes GRIK4 and NPAS3, each associated with psychosis in patients with mental retardation are discussed to illustrate the value of rare cytogenetic events as a means to signpost neurobiological pathways of general importance for illness in the wider population
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