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Disorders of Sex Development (DSD): A more than three Decades of Experience at a Major Teaching Hospital

A retrospective hospital-based study was conducted at the Pediatric Endocrine Division, King Khalid University Hospital (KKUH), King Saud University, Riyadh, Saudi Arabia, during the period July 1983 and June 2017. Methods: Medical records of patients who were diagnosed with DSD were retrospectively reviewed. Data included the etiological diagnosis, clinical history, physical examination, results of laboratory and radiological investigations, medical and surgical options offered, and results of follow-up. Laparoscopy or laparotomy with gonadal biopsies was done when appropriate. Results: During the period under review, a total of 203 patients with Disorders of Sex Development (DSDs) were evaluated. Their ages ranged between one day and 13 years. Hundred- thirty-nine (68.5%) patients were genetic females (46 XX). Congenital Adrenal Hyperplasia (CAH) is the most common, in 137(98.5%) patients. Conclusion: Disorders of sex development are a group of heterogeneous conditions with variable aetiologias. Many patients with DSD have a good quality of life and lead a near-normal life, though some have not. The severity of the disorder, initial evaluation and follow-up by a specialized multidisciplinary team, good psychological support, and proper education were important. Finally, sex assignments should be made early after a thorough investigation.

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Relationship of insulin resistance with microvascular and macrovascular complications, death rate and other factors in patients with type 2 diabetes: A case-control study

Abstract: There is a lack of studies analyzing Severe Insulin Resistance (SIR) forms, especially from clinical aspects. The main objective of this research was to assess the relationship between micro- and macrovascular complications and the death rate of patients with SIR. Methods: It was a partially prospective case-control study of 120 participants with T2DM. Patients with doses of insulin >1 IU/kg/day were considered to have SIR (case group), with an insulin requirement of <1 IU/kg/day - control group. Statistical analyses were performed. Results: Regarding microvascular complications, an association was found between insulin doses and the rate of Diabetic Nephropathy (DN) in the case group compared with the control group (138 vs. 170 IU/day), p = 0.002. Men with T2DM and SIR were more likely to present with myocardial infarction than women (39.3% vs. 13.3%); p = 0.036. Subjects of the case group with lower eGDR (2.44 vs. 1.35) (or higher insulin resistance) were more likely to suffer a stroke, p = 0.003. Case group males were more likely than females to undergo coronary artery bypass graft surgery (21.4% vs. 3.3%); p = 0.048. Higher mortality was observed in the case group of patients with lower eGDR (1.01 vs. 1.85); p = 0.031. Conclusion: As for microvascular outcomes, the rate of DP and DR was similar in both control and case groups. Only the rate of DN in the case group was associated with higher insulin doses. Macrovascular complications such as stroke, myocardial infarction, and bypass surgery were related to the male gender and SIR, as well as higher mortality according to eGDR.

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Investigating polymorphisms in genes encoding TGF-β1, IL-10, and IL-6 and their associations with type 1 diabetes mellitus

Many cytokines play a role in the pathogenesis of Type 1 Diabetes (T1D), and gene polymorphisms could possibly contribute to the disease’s genetic predisposition because they can affect cytokine production or function. The purpose of this study was to investigate the role of the gene polymorphisms TGF-β1 (+869T/C), (+915G/C), IL-10 {-1082 G/A), (-819 C/T), and (-592 A/C), and IL-6 (-174 G/C) in hereditary vulnerability to T1D. The Polymerase Chain Reaction with Sequence-Specific Primers (PCR-SSP) was used to analyze the polymorphisms. According to their genotypes, individuals were divided into the low-, high-, or intermediate-producer phenotypes predicted for these cytokines polymorphisms. Our findings revealed that the production of TGF-β1 was significantly higher in control than in T1D participants whereas the IL-6 genotype with low IL-6 production was significantly increased in the cases compared to the control. A significant association was evident between TGF-β1 and IL-6 low production and the incidence of T1D, thereby confirming the importance of TGF-β1 and IL-6 polymorphism as a genetic factor contributing to the incidence of T1D. By contrast, the involvement of IL-10 in the incidence of T1D was not as clear. Although some evidence supports a relationship, no statistically significant association has been verified between IL-10 and T1D. This type of measurement could be beneficial in determining the susceptibility and severity of the T1D condition while also taking into consideration the prediction of T1D incidence.

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Omega-3/omega-6 fatty acids: The effects on the psychophysical well-being of adolescents and adults

Background: Fatty acids of the omega-3/omega-6 groups are used especially in cases of pregnancy, lactation, and malnutrition. In recent decades, pediatrics has been trying to find out whether the use of omega-3/omega-6 has effects on human growth and neurodevelopment. Aims: Check the state of the art on the use of omega-3/omega-6 type fatty acids in the diet, in adolescent and adult populations. Materials and methods: A total of 72 original articles on the topic of human growth and nutrition in pediatrics have been selected on PubMed through September 2022. Results: In literature, the use of omega-3/omega-6, with greater prevalence in the former group than the latter group, appears to be most effective in hypertension hypothesis, dyslipidemia, and high C-reactive protein values, cardiovascular risk, and neuropathic pain, while appearing to have less impact on neurodegenerative (except in multiple sclerosis) and mental disorders (except in depression). Interesting benefits can be detected when combining omega-3/omega-6 with spirulina algae, chitosan, probiotics, vitamin D, fiber and plant extracts. Conclusion: Significant evidence emerges on the importance of omega-3 and omega-6 fatty acid supplementation, but important structural shortcomings of research designs still emerge from the published studies; moreover, many studies assume that fatty acid supplementation can have a curative effect on already active diseases, when in fact such prescriptions should be considered as adjuvant therapies to prevent or promote symptomatic regression, precisely because of their anti-inflammatory, antioxidant and immunomodulating virtues. However, there is no concrete and robust evidence of the positive impact on psychological well-being. Future research that can resolve the critical issues highlighted is hoped to promote a better approach to the topic of omega-3/omega-6 supplementation in human health.

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COVID-19 diseases, understanding and treatments

Seobuk Hospital is a hospital directly operated by the Seoul Metropolitan Government and has mainly served as a tuberculosis hospital. It is a Seoul city governmental public hospital which primarily provides inpatients and out patients treatment to the elderly, many of them suffering from dementia patients and the marginalized, such as the homeless and the disabled. From March 2nd, 2020, to May 31th, 2022 Seobuk hospital was appointed to treat COVID-19 patients that required stationary treatment. South Korea’s COVID-19 mortality rate has below 0.1% while in other countries such as the United States and in Europe the mortality rate varies between 1 and 2 %. We believe that it is due to the quarantine system which was put in place right from the start of the COVID-19 pandemic in Febuary 2020. Patients testing positive for COVID-19 were hospitalized free of charge and they were hospitalized usually in early period (2 - 3 days after COVID -19 testing) of COVID-19 disease. In this paper we analyzed the disease patterns of patients hospitalized with COVID-19 using the data from the 4,531 patients charts which received treatment in Seobuk hospital between March 2nd, 2020 and May 31st, 2022 by looking at their clinical features and medication history and medications for treatment. The key element of the guideline of our treatment was to administer Veklury (Remdesivir) or Paxlovid despite its high cost in the early period of the COVID-19 disease when oxygen saturation dropped below 94%. Nowadays we administer Veklury and Paxlovid right after COVID-19 is daignosed free of charge for the proper patient. It is believed that the current quarantine system in South Korea which allows patients to be treated with Veklury (Remdesivir) in hospitals at the initial stage of the infection and with an early Paxlovid administration in home treatment has contributed to lowering the death rate in South Korea.

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Teriparatide in a patient with severe osteoporosis, hypoparathyroidism and thalassemia major

β-Thalassemia Major (TM) is a form of beta-thalassemias. TM complications include, among others, osteoporosis, whose frequency, among TM patients, varies from 13.6% to 50%. The overall etiological mechanisms of TM-related osteoporosis remain unclarified. The primary approach to osteoporosis in patients with TM is the management of TM and its complications and the use of antiresorptive agents, such as Bisphosphonates (BPs), as the first line-drug of treatment. In this article, we present the case of 45 years old-woman with TM and severe osteoporosis, with multiple fractures, albeit the assumption of BPs for many years. The anti-fracture efficacy and safety of BPs are not well-established in TM patients. Data suggest that etidronate and zoledronic acid should be considered as first-line agents in the management of TM- associated osteoporosis. Regarding Teriparatide (TP), there are only a few case reports published about its use in TM patients. It is also noticed that, at the dismission of TP therapy, its benefits are rapidly lost. Finally, regarding romosozumab, our patient presents a significant cardiovascular risk due to the presence of insulin-treated Diabetes Mellitus (DM) and TM-related cardiomyopathy, suggesting we avoid this drug. This case report shows that the therapy of osteoporosis in patients with TM remains an open problem. TM patients often present multiple comorbidities which create limitations to osteoporosis’s treatment. Moreover, these comoboridites are often unavoidable risk factors for osteoporosis.

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