Zobrazení zdroje stránky Oneillandrews2596

Objective The early diagnosis of Turner syndrome (TS) is often difficult because of the various clinical features. This study aimed to investigate clinical features and identify associated abnormalities in a group of patients with TS. Methods Retrospective data of presenting clinical features collected from the medical records of the 37 patients with TS. All patients were examined for associated clinical abnormalities. Results Mean age at diagnosis was 9.3±4.1 years. The main reason for referral was short stature and/or delayed puberty. All of the patients had at least one dysmorphic sign. Skeletal system abnormalities (57%) were the most common associated abnormality, which was followed by gastrointestinal system problems (40%). Cardiac defects occurred in 32%. Urinary system abnormalities occurred in 27%. Dermatological problems were detected in 32% of the patients. The pathology of the hearing was found in 19%. Autoimmune thyroid disease was detected in 24% of the patients, and celiac disease was detected in 5.4% of the patients. Conclusion Phenotypic variability often leads to a delay in the diagnosis of TS. Early diagnosis can initiate effective management in patients with TS.Objective Invasive fungal infections (IFI) are important and trending causes of mortality in patients with acute leukemia, especially during the remission induction. Methods In this study, 225 patients who were diagnosed with acute myeloid leukemia (AML) and undergoing intensive treatment for remission induction were enrolled in a retrospective manner. Results Within the whole group, which consisted of 225 patients, 90 patients received prophylactic antifungal treatment (PAT) (40%), while 135 patients did not (60%) receive. The mean cost of hospitalization was 9.151,6 (2.872,6-20.483,3) US dollars. Gender distribution and mean ages of groups were similar. One hundred fourteen patients not on PAT (84.4%) and five patients on PAT (5.5%) received intravenous antifungal treatment. Thirty-two of the patients who were not on PAT (23.7%) and 11 of the patients on PAT died during remission induction (12.22%). The mean day of the hospitalization was 22.61 days for the patients on PAT and 33.89 days for the patients who were not on PAT. In patients on PAT, the mean number of transfused platelet units was six (0-9), while 12.51 (4-43) units for patients who were not on PAT. Conclusion In our study, the oral suspension form of posaconazole was observed to be cost-effective to prevent IFI with a significant decrease in mortality during remission induction treatment.Objective The frequency of Cushing's disease (CD), ACTH-independent Cushing's syndrome (CS) and autonomous cortisol secretion (ACS) in patients with obesity is not well known. Therefore, in the present study, we aimed to assess the frequency of CD, CS and ACS among the patients with obesity. Methods This study included 813 patients (683 female, mean age 46.47±14.23 yr; mean body mass index (BMI) 37.31±6.50 kg/m2). Patients with obesity were classified further to stages 1, 2, and 3, according to BMI. All patients underwent a low dose dexamethasone suppression test (LDDST). The patients with CD, CS, and ACS and patients with simple obesity were compared concerning gender, age, type-2 diabetes, hypertension (HT) and hyperlipidemia (HL). Results Forty-four (5.4%) out of 813 patients were diagnosed as CD, CS or ACS. CD, CS, and ACS were diagnosed in four (0.4%), two (0.2%), and 33 (4%) patients, respectively. When patients with CD, CS and ACS were compared to the patients with simple obesity, older age at diagnosis, the presence of stage-1 obesity, the presence of HT, and uncontrolled type-2 diabetes were more frequent in patients with CD, CS and ACS (p=0.001, p=0.007, p=0.004, and p=0.0026, respectively). Conclusion The frequency of CD, CS, and ACS is high among patients with obesity. [https://www.selleckchem.com/ this website] Screening for CD, CS, and ACS in patients with stage-I obesity who are older than 50 years of age with uncontrolled type-2 diabetes and HT may be a reasonable approach.Objective Coronavirus Disease 2019 (COVID-19), named the etiological agent of Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) has recently emerged in Wuhan City, Hubei Province, China, in December 2019. Kazakhstan's border proximity to China has led to preventive measures in the country since January. This study aims to evaluate the epidemiologic characters of the first recorded cases in Kazakhstan. Methods Here, we reviewed the preparedness of the infection control and prevention procedures in Kazakhstan and evaluated the epidemiological characters of confirmed cases in Kazakhstan. The data for COVID-19 cases recorded from March 13 to April 6, 2020, were obtained from the Sanitary Epidemiological Service. Age, gender and their living place were recorded. The severity of infection, geographical distribution, gender and age group of cases were analyzed. Results Four phases of preventive measures used in respiratory infections have been implemented in Kazakhstan since January 6, 2020. The first case was recorded on March 13. During the period of March 13 and April 06, 629 cases with COVID-19 were recorded in Kazakhstan. Of these, 45 patients recovered, six had resulted in death; 535 (85%) of cases were mild and/or asymptomatic, 72 (11.5%) - moderate, 22 (3.5%) - severe. Of these, 7.5% of the cases were registered as children and course was mild. Conclusion The cases are increasing in Kazakhstan as seen in other countries. Currently, the strict implication of respiratory infection control measurement in public and health care services are still very important.Objective Turkey is one of the latest countries that COVID-19 disease was reported, with the first case on March 11, 2020, and since then, Istanbul became the epicenter of the pandemic in Turkey. Here, we reveal sequences of the virus isolated from three different patients with various clinical presentations. Methods Nasopharyngeal swab specimens of the patients were tested positive for the COVID-19 by qRT-PCR. Viral RNA extraction was performed from the same swab samples. Amplicon based libraries were prepared and sequenced using the Illumina NextSeq platform. Raw sequencing data were processed for variant calling and generating near-complete genome sequences. All three genomes were evaluated and compared with other worldwide isolates. Results The patients showed various clinics (an asymptomatic patient, patient with mild disease, and with severe pulmonary infiltration). Amplicon-based next-generation sequencing approach successfully applied to generate near-complete genomes with an average depth of 2.616. All three viral genomes carried the D614G variant (G clade according to GISAID classification) with implications for the origin of a spread first through China to Europe then to Istanbul.