15 results match your criteria: "SBU Diyarbakır Gazi Yaşargil Education and Research Hospital[Affiliation]"

Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

J Exp Med

December 2024

Section of Paediatric Infectious Disease, Department of Infectious Disease, Faculty of Medicine, Imperial College London, London, UK.

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.

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Purpose Of The Study: Simple bone cysts (SBCs) are the most common benign bone lesions in childhood. There are many different methods in the treatment of SBCs. There is no consensus on which method to use in the treatment.

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Article Synopsis
  • Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that affects AAT levels and is linked to respiratory diseases like COPD, bronchiectasis, and asthma; this study aimed to identify cases of AATD in Turkish patients with these conditions.
  • The study included 1,088 patients, mostly with COPD, and found that 5% had AATD mutations, with a mix of common and rare mutations identified.
  • The research concluded that AATD mutations are a significant genetic factor contributing to lung disease in the studied population, highlighting the need for awareness and genetic testing among patients with respiratory symptoms.
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Introduction: Breast cancer is the most common cancer in women and 2-11% of the cases are bilateral. Bilateral breast cancer frequently emerges as a second primary cancer. Lymphoma and mucinous carcinoma of breast are very rare.

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Transthoracic and transesophageal imaging of a 30-year-old patient who presented with palpitations and shortness of breath revealed flow from the aorta to the right atrium. An aortic-right atrial fistula, which is a rare anomaly, was evaluated. As there was no acquired cause, it was considered a congenital defect.

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Background: We investigated associations between baseline use of immunosuppressive drugs and severity of Coronavirus Disease 2019 (COVID-19) in autoimmune hepatitis (AIH).

Patients And Methods: Data of AIH patients with laboratory confirmed COVID-19 were retrospectively collected from 15 countries. The outcomes of AIH patients who were on immunosuppression at the time of COVID-19 were compared to patients who were not on AIH medication.

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Periodontal diseases are chronic inflammatory diseases and tissue destruction increases with oxidative stress in periodontal tissues. Periodontal diseases are associated with systemic diseases such as diabetes, cardio-vascular diseases and rheumatoid arthritis by means of systemic inflammation. Sickle cell disease (SCD) is a chronic inflammatory disease in which vaso-occlusive crisis and endothelial dysfunction are present.

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Background: Spiritual care is an integral part of palliative care. A nurse's perception of spiritual care is an effective factor for giving spiritual care.

Aim: To determine the perception of spiritual care and the variables that might affect the perception of spiritual care among palliative care nurses.

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Introduction: The impact of cardioneuroablation (CNA) on ventricular repolarization by using corrected QT interval (QTc) measurements has been recently demonstrated. The effects of cardiac pacing (CP) on ventricular repolarization have not been studied in patients with vasovagal syncope (VVS). We sought to compare ventricular repolarization effects of CNA (group 1) with CP (group 2) in patients with VVS.

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Background: Given the rarity of 11β-hydroxylase deficiency (11βOHD), there is a paucity of data about the differences in clinical and biochemical characteristics of classic (C-11βOHD) and nonclassic 11βOHD (NC-11βOHD).

Objective: To characterize a multicenter pediatric cohort with 11βOHD.

Method: The clinical and biochemical characteristics were retrospectively retrieved.

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Background And Aims: Data regarding outcome of COVID-19 in patients with autoimmune hepatitis (AIH) are lacking.

Approach And Results: We performed a retrospective study on patients with AIH and COVID-19 from 34 centers in Europe and the Americas. We analyzed factors associated with severe COVID-19 outcomes, defined as the need for mechanical ventilation, intensive care admission, and/or death.

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This research was conducted for the purpose of examining the care burden and quality of life in family caregivers of palliative care patients. The research design was a descriptive correlational study conducted with the caregivers of 163 patients residing in palliative care units. Data were collected via a demographic survey, The Zarit Burden Interview (ZBI) and the World Health Organization Quality of Life Assessment (WHOQOL).

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Background: The effect of favipiravir on the QTc interval during the treatment of Coronavirus Disease 2019 (COVID-19) patients is unclear. Thus, the current study objective was to evaluate any change in the QTc interval in patients who were hospitalized due to COVID-19 receiving favipiravir treatment.

Method: Patients hospitalized with COVID-19 were assessed in this single-center retrospective study.

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Left ventricular end-diastolic pressure (LVEDP) is an independent predictor for prognosis in ST-elevation myocardial infarction (STEMI) patients. We aimed to investigate the relationship of admission LVEDP measured after a successful primary percutaneous coronary intervention (pPCI) with scintigraphic infarct size (IS) and global longitudinal strain (GLS), a strong predictor of IS, in STEMI patients. A total of 62 consecutive patients with STEMI were enrolled in the study.

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Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder due to presence of mutations in the genes involved in the metabolism of steroid hormones in adrenal gland. There are two main forms of CAH, classic form and non-classic form. While classic form stands for the severe form, the non-classic form stands for the moderate and more frequent form of CAH.

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