60 results match your criteria: "Clinical Hospital "Acibadem-Sistina"[Affiliation]"

Article Synopsis
  • - Carney Complex (CNC) is a rare genetic syndrome causing spotty skin pigmentation and multiple tumors, including heart tumors (myxomas) and specific testicular tumors, and is usually inherited in an autosomal dominant manner.
  • - A 30-year-old male patient with CNC experienced severe infertility issues connected to both oligoasthenozoospermia and a rare testicular tumor (LCCSCT), along with recurring cardiac myxomas.
  • - Molecular testing revealed a novel gene mutation that may lead to male infertility in CNC patients; highlighting the need for early diagnosis and management of infertility in affected males.
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Article Synopsis
  • Early pregnancy loss (EPL) occurs in about 15% of recognized pregnancies, and around 50% of the cases don't have a clearly defined cause, termed idiopathic.
  • The study investigated the association of genetic variants in particular genes among women in North Macedonia with EPL, compared to a control group of women without pregnancy loss.
  • Findings indicated a significant prevalence of heterozygotes for certain genetic haplotypes in women with EPL, supporting previous research on the connection between these haplotypes and pregnancy loss and demonstrating a cost-effective genotyping method.
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Background: The safety and efficacy of carotid artery stenting (CAS) can be affected by certain technical and anatomical factors. However, it is not known whether the use of a dual-layer micromesh stent (DLMS) with a low-crossing profile could reduce the risks associated with complex vascular anatomies during CAS.

Methods: This study involved 1965 asymptomatic or symptomatic carotid artery stenosis patients who received the Roadsaver DLMS during CAS, as part of a prospective, multicenter observational ROADSAVER study, conducted from January 2018 to February 2021.

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Introduction: Factors contributing to recurrent pregnancy loss (RPL) in more than half of the cases are still unknown. The incidence and societal impact of this condition requires urgent elucidation of the mechanisms behind it, which could aid in significant improvement of clinical management.

Materials And Methods: Using a highly efficient in-solution digestion method and label-free data-independent LC-MS/MS acquisition with ion mobility, we performed comparative proteomics analysis of the decidua tissues from 19 RPL patients and 10 controls.

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Objectives: The aim of this study was to identify methodological variations leading to varied recommendations between the American College of Cardiology (ACC)/American Heart Association (AHA) and the European Society of Cardiology (ESC)/European Association for Cardio-Thoracic Surgery (EACTS) valvular heart disease guidelines and to suggest foundational steps towards standardizing guideline development.

Methods: An in-depth analysis was conducted to evaluate the methodologies used in developing the transatlantic guidelines for managing valvular heart disease. The evaluation was benchmarked against the standards proposed by the Institute of Medicine.

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Background: Lactational mastitis is a common painful and debilitating inflammation of breast tissue, generally treated conservatively or with pus puncture in case of breast abscess. However, treating mastitis in patients with implantable surgical material located in the affected breast region can be extremely challenging. We present an unusual case of lactational mastitis complicated by pacemaker pocket infection in a breastfeeding mother.

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Chromosomal abnormalities are the most common causes of early pregnancy losses (EPLs). In this study, we aimed to evaluate the incidence and spectrum of chromosomal abnormalities in EPLs and correlate them with different clinical characteristics. We performed Quantitative Fluorescent PCR (QF-PCR), followed by subtelomeric Multiplex Ligation Probe Amplification (MLPA) analysis to detect chromosomal abnormalities in 900 products of conceptions (POCs) from EPLs collected over a period of 10 years.

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Background: The fetal monogenic causes of early pregnancy losses (EPLs) are mainly unknown, with only a few articles on the subject published. In our previous study of EPLs using whole-exome sequencing analysis, we confirmed a genetic diagnosis of -related Joubert syndrome (JS) in three EPLs from two couples and identified a relatively common allele among our population (NM_001384732.1:c.

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Background: Revascularization is the primary treatment modality for chronic limb-threatening ischaemia (CLTI), but is not feasible in all patients. PLX-PAD is an off-the-shelf, placental-derived, mesenchymal stromal cell-like cell therapy. This study aimed to evaluate whether PLX-PAD would increase amputation-free survival in people with CLTI who were not candidates for revascularization.

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Pseudocarcinomatous hyperplasia of the tubal mucosa is a rare, reactive response to an underlying inflammatory or neoplastic process. We present a case of pseudocarcinomatous hyperplasia in a 26-year-old woman with clinical symptomatology of pelvic inflammatory disease, and a normal serum Ca 125-level (30 U/ml). The ultrasound finding showed presence of hydrosalpinx characterized with unilateral tubal enlargement in sausage-like shape that arose from the upper lateral margin of the uterus.

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The high recurrence rate and invasive diagnostic and monitoring methods in bladder cancer (BCa) clinical management require the development of new non-invasive molecular tools for early detection, particularly for low-grade and low-stage BCa as well as for risk stratification. By using an in-solution digestion method and label-free data-independent LC-MS/MS coupled with ion mobility, we profiled the BCa tissues from initiation to advanced stages and confidently identified and quantified 1619 proteins (≥2 peptides). A statistically significant difference in abundance (Anova ≤ 0.

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The successful outcome of a cardiac surgery procedure is significantly dependent on the management of cardiopulmonary bypass (CPB). Even if a cardiac operation is technically well-conducted, a patient may suffer CPB-related complications that could result in severe comorbidities, reduced quality of life, or even death. However, the role of clinical perfusionists in perioperative patient care, which is critical, is often overlooked.

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Background: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.

Methods: We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls.

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Article Synopsis
  • * Out of several candidates, FABP5 and ENO1 showed significant differences in urine levels between PCa patients and controls, with a biomarker panel that included these proteins and PSA achieving the highest accuracy for detecting PCa.
  • * The best-performing biomarker combination for prognosis included FABP5, EZR, AZGP1, and MDH2, with an Area Under the Curve (AUC) of 0.889, indicating strong classification of patients' cancer severity, although larger
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The COVID-19 pandemic and the need for social distancing brought about sudden changes in the health system and treatment strategies. Patients with chronic wounds were affected by these changes and had limited access to professional treatment in hospitals. They were at a higher risk of infection with COVID-19 due to comorbidities and advanced age.

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An Overview of Pediatric Approaches to Child with Developmental Delay Especially if There is Suspicion of ASD in First Few Years of Life.

Pril (Makedon Akad Nauk Umet Odd Med Nauki)

November 2022

Macedonian Academy of Sciences and Arts, Skopje, RN Macedonia.

To be a pediatrician means that one encounters many serious childhood health problems and one finds many ways to help families cope with these problems. Symptoms in children can be discrete, and the responsibility of the pediatrician to distinguish normal development from pathological. We are facing a new era in the developmental assessment of children.

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How Alcohol Damages Brain Development in Children.

Pril (Makedon Akad Nauk Umet Odd Med Nauki)

November 2022

Clinical Hospital Acibadem Sistina, Skopje, RN Macedonia.

The world over, people drink in order to socialize, celebrate, and relax, despite the negative health effects of alcohol. Three periods of dynamic brain changes are evidenced to be particularly sensitive to the harmful effects of alcohol: gestation (from conception to birth), later adolescence (15-19 years), and older adulthood (over 65 years). This article is concentrated only on the negative effects of alcohol in children who have been exposed to alcohol before birth, known as foetal alcohol syndrome (FAS).

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Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study.

Br J Sports Med

October 2022

Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia

Article Synopsis
  • - The study investigates the causal relationship between physical activity, sedentary behavior, and breast cancer risk using Mendelian randomization, analyzing data from over 130,000 European women.
  • - Findings suggest that higher levels of genetic predisposition to physical activity are linked to a significantly lower overall breast cancer risk, particularly for pre/perimenopausal cases, while increased sedentary time correlates with a higher risk of certain types of tumors.
  • - The results are consistent across various test groups and indicate that promoting physical activity and reducing sedentary behavior might be beneficial in mitigating breast cancer risks.
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Background: The spectrum of and mutations varies among populations; however, some mutations may be frequent in particular ethnic groups due to the "founder" effect. The c.3700_3704del mutation was previously described as a recurrent variant in Eastern European countries.

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The majority of Gaucher Disease (GD) cases result from pathologic mutations in the GBA1 gene. A rich mutational spectrum of about 500 identified variants has been recognized. The disease is characterized by phenotypic diversity.

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Background: The skin is exposed to numerous particulate and gaseous air pollutants. The ones that need particular attention are the particles that adhere to the skin surface, which can later cause direct skin damage. This study aimed to characterize air pollution (AP) particles adhered to the human skin by using scanning electron microscopy (SEM) combined with X-ray dispersive energy spectrometry (EDX).

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Rare germline copy number variants (CNVs) and breast cancer risk.

Commun Biol

January 2022

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

Germline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P = 3.

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Peritoneal dialysis-related peritonitis remains the major complication and primary challenge to the long-term success of peritoneal dialysis (PD). The study aimed to analyze the peritonitis rate, the cause, the outcomes, and the association of peritonitis with the survival of patients on peritoneal dialysis. Patient data were collected retrospectively from medical charts.

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