Lowe syndrome - Old and new evidence of secondary mitochondrial dysfunction.

The oculocerebrorenal syndrome of Lowe (LS) is a rare, progressive, multisystemic X-linked disorder caused by mutations in OCRL gene. Patients classically present with ocular abnormalities including bilateral congenital cataracts and glaucoma, intellectual delay, severe generalized hypotonia with absent tendon reflexes, and proximal renal tubular dysfunction. Congenital bilateral cataracts and hypotonia are present at birth in almost all patients, while other classical symptoms develop gradually with variable severity.

The CRESS checklist for reporting stability studies: on behalf of the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) Working Group for the Preanalytical Phase (WG-PRE).

To ensure that clinical laboratories produce results that are both accurate and of clinical utility it is essential that only samples of adequate quality are analysed. Although various studies and databases assessing the stability of analytes in different settings do exist, guidance on how to perform and report stability studies is lacking. This results in studies that often do not report essential information, thus compromising transferability of the data.

Clinical management of coronavirus disease 2019 (COVID-19) in pregnancy: recommendations of WAPM-World Association of Perinatal Medicine.

These guidelines follow the mission of the World Association of Perinatal Medicine, which brings together groups and individuals throughout the world with the goal of improving outcomes of maternal, fetal and neonatal (perinatal) patients. Guidelines for auditing, evaluation, and clinical care in perinatal medicine enable physicians diagnose, treat and follow-up of COVID-19-exposed pregnant women. These guidelines are based on quality evidence in the peer review literature as well as the experience of perinatal expert throughout the world.

Enhancing and accelerating stroke treatment in Eastern European region: Methods and achievement of the ESO EAST program.

Introduction: Despite the availability of prevention and therapies of stroke, their implementation in clinical practice, even of low-cost ones, remains poor. In 2015, the European Stroke Organisation (ESO) initiated the ESO Enhancing and Accelerating Stroke Treatment (EAST) program, which aims to improve stroke care quality, primarily in Eastern Europe. Here, we describe its methods and milestones.

Thoughts and expectations of young professionals about the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM).

Objectives: Young laboratory medicine professionals (YLMPs) are the future of clinical laboratories. Although everyday practice shows significant differences among countries, especially during residency training, most of them face the same challenges. Besides promoting scientific, professional and clinical aspects of laboratory medicine in Europe, the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) should take into consideration YLMPs' concerns and interests to help them achieve excellence.

Expert advice about therapeutic exercise during pregnancy reduces the symptoms of sacroiliac dysfunction.

Objectives There are growing evidence that exercise improves sacroiliac dysfunction symptoms in pregnant women; but no data about the effect of expert advice regarding this matter. The aim of this study was to assess the effectiveness of expert advice about therapeutic exercise on sacroiliac dysfunction in pregnancy. Methods A total of 500 women with sacroiliac dysfunction diagnosed in pregnancy were randomized in study and control group.

Association of the matrix metalloproteinase 3 (MMP3) single nucleotide polymorphisms with tendinopathies: case-control study in high-level athletes.

Background: Matrix metalloproteinases (MMPs) play an important role in matrix remodelling, as well as in tendon integrity. Due to overuse, athletes often develop chronic tendinopathies. If not treated, they lead to severe impairment, even complete tendon ruptures.

HERBALIFE® ASSOCIATED SEVERE HEPATOTOXICITY IN A PREVIOUSLY HEALTHY WOMAN.

Lately there has been an increased consumption of herbal preparations, distributed as nutritional supplements, often claimed to be 'natural' and harmless. However, as their use is not subjected to strict pre-marketing testing and regulations, their ingredients are not clearly defined and there is no quality control or proof of their effectiveness and safety. A growing body of references accentuate their harmful effects, in particular hepatotoxicity, which varies from minimal hepatogram changes to fulminant hepatitis requiring liver transplantation.

A Forensic Aspect of Fetal Shoulder Dystocia.

Fetal shoulder dystocia (FSD) is an unpredictable and critical obstetric intrapartum emergency, where an objective problem is the relationship between the mother's pelvis and the child, i. e., an anthropometric disorder of delivery mechanics and dynamics.

Women in sports: The applicability of reference intervals for 6 commercially available testosterone immunoassays (HemSter Study).

Background: Testosterone levels in female athletes are increased due to their physical activity and correlate with their exercise volume. We therefore hypothesized that the reference intervals (RIs) derived from the general population are not applicable for female athletes. The aim of this study was to evaluate the applicability of the given RIs for 6 commercially available testosterone immunoassays in a group of female athletes.

Are Covid-19-positive mothers dangerous for their term and well newborn babies? Is there an answer?

Background The pandemic caused by the new coronavirus SARS-CoV-2 (Covid-19) is quite a challenging experience for the world. At the moment of birth, the fetus is prepared to face the challenge of labor and the exposure to the outside world, meaning that labor and birth represent the first extrauterine major exposure to a complex microbiota. The vagina, which is a canal for reproduction, is by evolution separated (but not far) from the anus and urethra.

Functional recovery after two-stage short-interval revision of chronic periprosthetic knee joint infection.

Purpose: The objective of this study was the functional recovery analysis of patients treated in two-staged short-interval procedure due to knee periprosthetic joint infection (PJI).

Materials And Methods: In the period from January 2015 to December 2018, a two-stage short-interval revision TKA was performed in 35 patients with PJI. Synovial fluid analysis, tissue samples and sonication method were used to diagnose PJI.

Dark brown serum and plasma samples: a case report.

This case report describes occurrence of unusual, dark brown coloration of citrate plasma and serum samples in a female 68 years old patient admitted into Emergency department (ED). Patient complained of nausea and vomiting, fever up to 38.9°C, colicky pain in abdomen, diminished urinary output and yellowish skin tone.

Cytopathology and diagnostics of Warthin's tumour.

Warthin's tumour (WT) is a benign epithelial salivary tumour, one type of salivary adenoma. Histologically, WT is structured of two components, epithelial tissue that often lines cystic formations and lymphoid tissue in the tumour stroma. FNA is a reliable diagnostic approach in the diagnosis of salivary gland lesions allowing a highly accurate categorization of benign tumour-like lesions, benign tumours and malignant tumours.

Association of Triiodothyronine Levels With Prostate Cancer Histopathological Differentiation and Tumor Stage.

Background/aim: The aim of this study was to determine the association between total triiodothyronine (T3), free fraction of thyroxin (FT4), and thyrotropin (TSH) levels with prostate cancer histopathological features.

Patients And Methods: Blood samples from 140 patients with prostate cancer were analyzed preoperatively and stratified according to postoperative histopathological differentiation. The first group (N=62) included patients with prostate cancer Grade Groups (GG) 1-2, while the second group (N=63) included patients with prostate cancer GG 3-5.

Reducing the probability of falsely elevated HbA1c results in diabetic patients by applying automated and educative HbA1c re-testing intervals.

Introduction: Too frequent HbA1c measurements may lead to unnecessary treatment modifications of diabetic patients. The aim of this study was to estimate the percentage of falsely elevated HbA1c results in two hospitals, Landeskrankenhaus/Uniklinikum Salzburg (LKH) and Landesklinik St. Veit (STV), as well as to retrospectively investigate the effect of an automated and an educative 60-day re-testing interval (RTI).

The association of systemic inflammatory markers with indicators of stress and cardiac necrosis in patients undergoing aortic valve replacement and revascularization surgeries.

The aim was to investigate: changes of inflammatory, stress and cardiac response in patients undergoing open heart surgeries up to five days after the procedure; the association between inflammatory, stress and cardiac response and whether changes in a certain marker can predict short-term patient outcome. Ninety patients were divided into three groups, 30 participants each (on-pump,off-pump revascularization and valve replacement group). The following markers were measured:complete blood count, CRP, IL-6, IL-10, leptin, resistin, monocyte chemoattractant protein-1 (MCP-1), cortisol, CK and hsTnT in 5 points.