Milnebeier6795

[This corrects the article doi 10.1590/1414-431X202010222].Constitutional genomic imbalances are known to cause malformations, disabilities, neurodevelopmental delay, and dysmorphia and can lead to dysfunctions in the cell cycle. In extremely rare genetic conditions such as small supernumerary marker chromosomes (sSMC), it is important to understand the cellular consequences of this extra marker, as well the factors that contribute to their maintenance or elimination through successive cell cycles and phenotypic impact. The study of chromosomal mosaicism provides a natural model to characterize the effect of aneuploidy on genome stability and compare cells with the same genetic background and environment exposure, but differing in the presence of sSMC. Here, we report the functional characterization of different cell lines from two familial patients with mosaic sSMC derived from chromosome 12. We performed studies of proliferation dynamics, stability, and variability of these cells using fluorescent in situ hybridization (FISH), sister chromatid exchanges (SCE), and conventional staining. We also quantified the telomere-related genomic instability of sSMC cells using 3D telomeric profile analysis by quantitative-FISH. sSMC cells exhibited differences in the cell cycle dynamics compared to normal cells. First, the sSMC cells exhibited lower proliferation index and higher frequency of SCE than normal cells, associated with a higher level of chromosomal instability. Second, sSMC cells exhibited more telomeric-related genomic instability. Lastly, the differences of sSMC cells distribution among tissues could explain different phenotypic repercussions observed in patients. These results will help in our understanding of the sSMC stability, maintenance during cell cycle, and the cell cycle variables involved in the different phenotypic manifestations.In early 2021, Brazil saw a dramatic recurrence in Covid-19 cases associated to the spread of a novel variant of the SARS-CoV-2 virus, the P1 variant. In light of previous reports showing that this variant is more transmissible and more likely to infect people who had recovered from previous infection, a retrospective analysis was conducted to assess if the early 2021 Covid-19 wave in Brazil was associated with an increase in the number of individuals presenting with a more severe clinical course. Fifty-one thousand and fourteen individuals who underwent telemedicine consultations were divided into two groups patients seen on or before January 31, 2021, and on or after February 1, 2021. These dates were chosen based on the spread of the P1 variant in Brazil. Referral to the emergency department (ED) was used as a marker of a more severe course of the disease. No differences were seen in the proportion of patients referred to the ED in each group nor in the odds ratio of being referred to the ED from the 1st of February 2021 (OR=0.909; 95%CI 0.81-1.01). Considering the entire cohort, age had an impact on the odds of being referred to the ED, with individuals older than 59 years showing twice the risk of the remaining population and those less than 19 years showing a lower risk.Diabetes is associated with a worse prognosis and a high risk of morbidity and mortality in COVID-19 patients. We aimed to evaluate the main factors involved in the poor prognosis in diabetic patients. A total of 984 patients diagnosed with COVID-19 admitted to the hospital were included in this study. Patients were first divided into type-2 diabetic (DM+) and non-diabetic (DM-) groups. The participants were analyzed based on the National Early Warning Score (NEWS) and on the Quick-Sequential Organ Failure Assessment (qSOFA) to find the best prognostic risk score for our study. The DM+ and DM- groups were divided into non-severe and severe groups. Comparative and correlative analyses were used to identify the physiological parameters that could be employed for creating a potential risk indicator for DM+ COVID-19 patients. We found a poorer prognosis for the DM+ COVID-19 patients with a higher ICU admission rate, mechanical ventilation rate, vasopressor use, dialysis, and longer treatment times compared with the DM- group. DM+ COVID-19 patients had increased plasma glucose, lactate, age, urea, NEWS, and D-dimer levels, herein referred to as the GLAUND set, and worse prognosis and outcomes when compared with infected DM- patients. The NEWS score was a better indicator for assessing COVID-19 severity in diabetic patients than the q-SOFA score. In conclusion, diabetic COVID-19 patients should be assessed with the NEWS score and GLAUND set for determining their prognosis COVID-19 prognosis.

The objective of this study was to evaluate whether a single measurement of vascular endothelial growth factor could distinguish between intrauterine pregnancy and ectopic pregnancy and to correlate the levels of vascular endothelial growth factor with serum levels of progesterone andβ-human chorionic gonadotropin in each subgroup.

Ninety patients with a positive human chorionic gonadotropin test and either abdominal pain or vaginal bleeding were selected; pregnancies were singletons, spontaneously conceived, 42-56 days of gestational age. All patients had a transvaginal ultrasound examination and were divided into three subgroups abnormal intrauterine pregnancy, tubal pregnancy, and normal intrauterine pregnancy. Tubal pregnancies were surgically treated and histologically confirmed. Blood samples were collected for the determination of β-human chorionic gonadotropin, progesterone, and vascular endothelial growth factor and their concentrations were compared in each subgroup. Receiver operating characterminating intrauterine pregnancy from tubal pregnancy; its levels are increased in women with ectopic pregnancy compared with women with normal and abnormal intrauterine pregnancies.

Serum vascular endothelial growth factor could be a marker in discriminating intrauterine pregnancy from tubal pregnancy; its levels are increased in women with ectopic pregnancy compared with women with normal and abnormal intrauterine pregnancies.

Chronic hepatitis C (CHC) is one of the most important health problems affecting the significant rate of world population and it may lead to cirrhosis and hepatocellular carcinoma. C-reactive protein to lymphocyte count ratio (CLR) is used in estimating inflammatory burden. Therefore,this study aimed to compare CLR values between CHC patients and healthy controls and between CHC patients with and without fibrosis.

Patients with CHC infection who visited outpatient and inpatient internal medicine clinics of our institution between January 2021 and December 2021 were enrolled to this retrospective study. CLR of the patients with CHC and healthy controls were compared. We further compared CLR of CHC patients with and without fibrosis.

Median CLR of CHC and control subjects was 2.61 (5.13%) and 0.31 (0.37%), respectively. GGTI 298 CLR of the CHC group was significantly increased compared to the CLR of the controls (p<0.001). There was a significant positive correlation between CLR and APRI score (r=0.15, p=0.04). Thesensitivity and specificity of CLR in determining CHC above 0.58% level were 84% and 82%, respectively (AUC 0.884, p<0.001, 95%CI 0.84-0.93). In subgroup analysis, CLR was 3.97 (6.6%) for CHC patients with fibrosis and 1.7 (4.4%) for CHC subjects without fibrosis (p=0.001).

Increased CLR in patients with CHC may be an alarming finding of liver fibrosis, as CLR is associated with both CHC and hepatic fibrosis.

Increased CLR in patients with CHC may be an alarming finding of liver fibrosis, as CLR is associated with both CHC and hepatic fibrosis.

Beta-lactams resistance is a major clinical problem in treating pneumonia. This study aimed to detect the extended-spectrum beta-lactamases (ESBL) genes in Klebsiella pneumoniae among patients with community-acquired pneumonia (CAP) in Al-Najaf City, Iraq.

A total of 511 sputum samples were obtained from all suspected patients with CAP in Al-Najaf City, Iraq, from March 2020 to September 2020. Sputum samples were subjected to microbiological tests. The disk diffusion method was used to test antibiotic sensitivity. Production of ESBLs was identified using phenotypic and genotypic methods.

The total prevalence of K. pneumoniae was 31.9% (163/511). Using CHROM agar, 41 (25.2%) isolates were ESBL producers. The imipenem 0.0% (n=0/41) and norfloxacin 0.0% (n=0/41) were the most effective antibiotics. The multiplex polymerase chain reaction showed that 46.3% (n=19/41) of isolates harbored ESBL genes. Out of 19 ESBL producers, 47.4% and 15.8% harbored blaCTX-M and blaSHV, respectively. While blaCTX-M and blaSHV genes were detected in 7 (36.8%) isolates, simultaneously.

The imipenem and norfloxacin can be used in empirical treatment of K. pneumoniae isolates in Iraq. The emergence of K. pneumoniae strains harboring ESBL resistance genes necessitates the development of a regular surveillance program to prevent the spreading of these isolates more in Iraqi health care systems.

The imipenem and norfloxacin can be used in empirical treatment of K. pneumoniae isolates in Iraq. The emergence of K. pneumoniae strains harboring ESBL resistance genes necessitates the development of a regular surveillance program to prevent the spreading of these isolates more in Iraqi health care systems.

This study was conducted to examine the effect of women's unmet family planning needs on their sexual functions during the COVID-19 pandemic period.

A cross-sectional study was conducted with 319 women of childbearing age across Turkey between April and May 2021. Data were obtained through online questionnaires using the "Survey Form" and the Female Sexual Functıon Index.

It was observed that 46.77% of the participants had difficulty in accessing the family planning method, the most used family planning method during the pandemic period was the withdrawal method with 52.35%, and there was a significant difference between them and the pre-pandemic method (p<0.05). In the regression analysis, it was shown that a one-unit increase in the difficulty of accessing the family planning method and the place reached parameter would lead to an increase of 0.33 points in the sexual function probability of women.

It was observed that women of childbearing age living in Turkey had limited access to family planning services during the pandemic, those who used modern methods before the pandemic had to prefer the traditional method, and the sexual functions of women who had fear of becoming pregnant were adversely affected.

It was observed that women of childbearing age living in Turkey had limited access to family planning services during the pandemic, those who used modern methods before the pandemic had to prefer the traditional method, and the sexual functions of women who had fear of becoming pregnant were adversely affected.

Polycystic ovary syndrome is the most common endocrinopathy among women of reproductive age. Polycystic ovary syndrome is a metabolic disorder associated with insulin resistance and subclinical inflammation. Dermcidin, an antimicrobial peptide, involves in insulin resistance and inflammatory processes. Dermcidin suppresses the secretion of insulin production from the liver/pancreas and also increases insulin resistance. We aimed to discover whether dermcidin levels were altered in polycystic ovary syndrome women compared to controls and determine the link of dermcidin with hormonal-metabolic parameters in polycystic ovary syndrome women.

The current research was designed as a case-control study and Rotterdam 2003 criteria were used for diagnosing polycystic ovary syndrome. A total of 75 subjects with polycystic ovary syndrome and 75 age- and body mass index-matched subjects as controls were enrolled in the study. The insulin resistance state was determined using a homeostatic model assessment of insulin resistance and quantitative insulin sensitivity check index.