Targeted NGS Revealed Pathogenic Mutation in a 13-Year-Old Patient with Homozygous Familial Hypercholesterolemia: A Case Report.

Familial hypercholesterolemia is an autosomal hereditary disease defined by an increased level of low-density lipoprotein cholesterol (LDL-C), which predisposes significant risks for premature cardiovascular disorders. We present a family trio study: proband, a 13-year-old Kazakh girl with homozygous familial hypercholesterolemia (HoFH) and her parents. HoFH is much more rare and severe than a heterozygous form of the disorder.

Characterization of COVID-19 infected pregnant women with ICU admission and the risk of preterm: A cluster analysis.

Background: The unique physiological changes during pregnancy present challenges in understanding the full scope and effects of COVID-19 on pregnant women, adding complexity to their medical management. Given the significant changes in the immune, circulatory, respiratory, and hormonal systems during the progression of the pregnancy, and the specific factors with higher risk of COVID-19, like metabolic, vascular, and endothelial factors, typically also associated with maternal and neonatal unfavorable outcomes, the full understanding of how COVID-19 affects pregnant women is not clarified yet.

Methods: In this study, anonymous data from medical records of pregnant women with lab-confirmed COVID-19 in Astana, Kazakhstan from May 1, 2021, to July 14, 2021, were collected retrospectively.

Improvements in Cardiopulmonary Exercise Test Results in Atrial Fibrillation Patients After Radiofrequency Ablation in Kazakhstan.

This prospective study evaluates the impact of radiofrequency ablation (RFA) on cardiorespiratory indicators in patients with long-standing persistent atrial fibrillation admitted to the Heart Center UMC between January 2022 and April 2024 in Astana, Kazakhstan. The study aims to assess the functional cardiac benefits of RFA. Out of 717 registered atrial fibrillation patients, 104 were examined before and 3 months after ablation, focusing on cardiorespiratory parameters.

Proposing new lipoprotein (a) cut off value for Kazakhstan: pilot study.

Introduction: There is no consensus on the optimal concentration of lipoprotein(a) (Lp(a)) for the risk of atherosclerotic cardiovascular diseases (ASCVD) and aortic valve stenosis. In various clinical guidelines and agreed documents, the threshold level of Lp (a) is 30 mg/dl or 50 mg/dl. We estimated the cut-off value of Lp (a) associated with the risk of developing various localizations of atherosclerosis for the Central Asia, including Kazakhstani population.

Assessment of the Psychometric Properties of the Hospital's Culture of Nursing Research Scale Among Nurses.

The "Hospital's Culture of Nursing Research Scale" (HCNRS) is a critical assessment tool in health care research. It was created in response to the rising acknowledgment of nursing research's critical role in improving patient care outcomes. This study aimed to develop the HCNRS to assess the nurses' perceptions of the hospital's culture of nursing research.

Understanding the impact of endometriosis on women's life: an integrative review of systematic reviews.

Background: Endometriosis is a challenging chronic condition with a significant impact on women's well-being. This systematic review of systematic reviews aims to assess the evidence investigating the intricate interplay between endometriosis and quality of life (QoL).

Methods: A systematic review was performed for English-language studies up to January 2022 to identify systematic reviews with and without meta-analysis analyzing quantitative or qualitative data The following databases were searched: Scopus, PubMed, Embase, Web of Science and Cochrane Central Register of Controlled Trials.

Bladder and Kidney Transplantation En Bloc: Review of Experience and Prospects for Development.

Although urine bladder transplantation is currently being conducted, the procedure is an incompletely resolved problem in clinical transplantology. A small number of en bloc bladder and kidney transplants from pediatric donors to adult recipients in humans have been reported. A small number of bladder transplants with and without combinations with kidneys have also been performed in experiments on different animal models.

Endoscopic Features of Chronic Rhinosinusitis in Patients with Gastroesophageal Reflux Disease.

Chronic rhinosinusitis (CRS) is a complex inflammatory condition affecting the nasal and paranasal sinus mucosa. Gastroesophageal reflux disease (GERD) has been implicated as a potential exacerbating factor in CRS, but the specific endoscopic features of nasopharyngeal pathology in this context remain poorly understood. : Chronic rhinosinusitis is a multifactorial disease with various underlying etiologies, including inflammation, anatomical factors, and environmental triggers.

Understanding Pediatric Kidney Transplant Rejection: Its Pathophysiology, Biomarkers, and Management Strategies.

End-stage kidney disease requires comprehensive management strategies to ensure patient survival and improve quality of life. Kidney transplantation remains the preferred treatment option, offering superior long-term outcomes. However, graft rejection remains a significant concern, and pediatric patients often require tailored immunosuppressive regimens due to differences in immune response compared to adults.

Perspectives of healthcare practitioners on environmental sustainability in healthcare: A qualitative study.

Aim: To explore the perspectives of Kazakhstani healthcare professionals on environmental sustainability in healthcare.

Design: An exploratory qualitative design.

Methods: Four focus group discussions (FGDs) on environmental sustainability in healthcare were conducted among healthcare professionals (nurses, physicians, midwives and physical therapists) from June to August 2023 in three cities of Kazakhstan.

Examining a 12-year experience within Kazakhstan's national heart transplantation program.

Kazakhstan has one of the lowest heart transplantation (HTx) rates globally, but there are no studies evaluating the outcomes of HTx. This study aimed to provide a comprehensive analysis of the national HTx program over a 12-year period (2012-2023). Survival analysis of the national HTx cohort was conducted using life tables, Kaplan‒Meier curves, and Cox regression methods.

Evaluation of liver transplantation services in Kazakhstan from 2012 to 2023.

There is a scarcity of publications evaluating the performance of the national liver transplantation (LTx) program in Kazakhstan. Spanning from 2012 to 2023, it delves into historical trends in LTx surgeries, liver transplant centers, and the national cohort of patients awaiting LTx. Survival analysis for those awaiting LTx, using life tables and Kaplan-Meier, is complemented by time series analysis projecting developments until 2030.

Standard precautions compliance and its associated factors among nurses in Kazakhstan: A cross-sectional study.

Background: During the COVID-19 pandemic, with many nurses being infected, understanding compliance with standard precautions (SP) among nurses in Kazakhstan is crucial for improving infection prevention and control and preparedness for future emergencies. The study aimed to assess Kazakh nurses' SP compliance amid the COVID-19 pandemic and examine the factors associated with their compliance.

Methods: Quantitative, cross-sectional design.

Environmental sustainability in healthcare: A qualitative study of the perspectives of nursing, medical and public health students in Kazakhstan.

The Aim Was: This study explored the perspectives of nursing, medical and public health students on environmental sustainability in healthcare.

Background: The healthcare sector has increasingly recognized the importance of adopting environmental sustainability over the past few years. This growing awareness emphasizes the need to thoroughly assess the connection between health care and environmental responsibility.

Predictive Role of Progesterone Levels for IVF Outcome in Different Phases of Controlled Ovarian Stimulation for Patients With and Without Endometriosis: Expert View.

The study aimed to review the role of basal, trigger, and aspiration day progesterone levels (PLs) as predictors of in vitro fertilization (IVF) success for patients with and without endometriosis. A non-systematic review was conducted by searching papers published in English during the period of 1990-2023 in MEDLINE and PubMed, Embase, The Cochrane Library (Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, Cochrane Methodology Register), and Web of Science. The most widely used IVF predictor success was the trigger day progesterone serum level.

Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder.

Perrault syndrome (PRLTS) is a rare autosomal recessive disorder which is associated with pathogenic variants in HSD17B4, HARS2, CLPP, LARS2, GGPS1, RMND1, TWNK, ERAL1, and PRORP genes. The disease is characterized by sensorineural hearing loss, sometimes with neurological signs, including progressive sensory and motor peripheral neuropathy, cerebellar ataxia, mild mental retardation, and ovarian dysgenesis in females. In this article, we report a case of a child diagnosed with spastic diplegic cerebral palsy.

Investigating the Kazakhstani Pediatric Nurses' intravenous catheter management knowledge and confidence: A cross-sectional study.

Aim: To assess Kazakh pediatric nurses' knowledge and confidence in peripheral intravenous catheter (PIVC) management and examine the personal and professional factors that influenced them.

Background: Despite the significance of having high levels of PIVC insertion and care knowledge and confidence among pediatric nurses, the literature portrays inadequacies in the knowledge of these nurses in various parts of the globe.

Design: This study is cross-sectional and observational, following the STrengthening the Reporting of OBservational studies in Epidemiology checklist in reporting.

Can Classifications Adequately Represent Genital Malformations?: EVA Study ( E SHRE/ESGE | V CUAM | A FS) - A Prospective Multicenter Study to Evaluate the Current Female Genital Malformation Classifications.

Genital malformations are a common clinical occurrence that can be represented using different classifications. Reproducibility is an essential quality characteristic for a classification, and it plays an important role, especially in consultations and the treatment of infertile patients and in obstetric management. The aim of this study is to demonstrate the reproducibility and clinical practicality of three commonly used classifications: the ESHRE/ESGE (European Society of Human Reproduction and Embryology/ European Society for Gynecological Endoscopy), VCUAM (Vagina Cervix Uterus Adnex-associated Malformation), and AFS (American Fertility Society) classifications.

The Distribution of the Genotypes of and Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC.

Nowadays, direct oral anticoagulants (DOACs) are the first-line anticoagulant strategy in patients with non-valvular atrial fibrillation (NVAF). We aimed to identify the influence of polymorphisms of the genes encoding P-glycoprotein () and carboxylesterase 1 () on the variability of plasma concentrations of DOACs in Kazakhstani patients with NVAF. We analyzed polymorphisms rs4148738, rs1045642, rs2032582 and rs1128503 in and rs8192935, rs2244613 and rs71647871 genes and measured the plasma concentrations of dabigatran/apixaban and biochemical parameters in 150 Kazakhstani NVAF patients.

Reproductive and Obstetric Outcomes after Fertility-Sparing Treatments for Cervical Cancer: Current Approach and Future Directions.

Cervical cancer is one of the leading causes of cancer-related death in women of reproductive age. The established fertility-sparing approaches for the management of early-stage cervical cancer for women who plan pregnancy are associated with a decline in fecundity and an increased risk of pregnancy complications. This article aims to offer an overview of fertility-sparing approaches and the management of potential subfertility and pregnancy complications after these treatments.

Depression, Anxiety, and Stress in Kazakhstani Women with Recurrent Pregnancy Loss: A Case-Control Study.

Background: Recurrent pregnancy loss (RPL) is associated with increased incidence and severity of depression, anxiety, and stress, and screening for these comorbidities following miscarriages is beneficial for women with RPL who are planning future pregnancies. This study aims to investigate depression, anxiety, and stress among Kazakhstani women with RPL. Methods: This was a case−control study involving 70 women with confirmed RPL and 78 ethnically matched control women.

Stress, anxiety and depression in parents of children with autism spectrum disorders in Kazakhstan: prevalence and associated factors.

Introduction: Studies worldwide reported increased levels of stress among parents of children with autism due to the unique caregiving challenges. While research has shown that parents' and autistic child's demographics and behavioral characteristics are associated with psychological distress among caregivers of children with autism, very few studies have investigated the impact of the caregiver's unmet needs on various aspects of the perceived family burden.

Methods: This cross-sectional study examined the prevalence of stress, anxiety and depressive symptoms among a wide range of 146 parents with different sociodemographic characteristics, social support and unmet needs who care for children with autism spectrum disorder.

Predictive Value of Basal Serum Progesterone for Successful IVF in Endometriosis Patients: The Need for a Personalized Approach.

The data regarding the role of progesterone (P4) in reproductive events of endometriosis patients are limited. This prospective study aimed to examine the predictive value of basal P4 serum levels for successful in vitro fertilization (IVF) in patients with primary infertility and endometriosis. The study included 73 patients divided according to endometriosis treatment (surgery vs.