Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver.

Dihydrolipoamide dehydrogenase (DLD) deficiency can, in one of its forms, be a rare cause of acute liver failure. Clinical presentation is nonspecific. Biochemical findings can reflect metabolic block, but vary depending on patient and his condition.

One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia.

Spinal muscular atrophy (SMA) is a neuromuscular and neurodegenerative disease caused by the homozygous deletion of exon 7 in 95% of cases. The prognosis for SMA patients has improved with the development of disease-modifying therapies, all of which are available in Croatia. The best treatment outcomes occur when therapy is applied before symptoms appear, making newborn screening (NBS) for SMA a crucial factor.

Profiling Colorectal Cancer in the Landscape Personalized Testing-Advantages of Liquid Biopsy.

Drug-specific therapeutic approaches for colorectal cancer (CRC) have contributed to significant improvements in patient health. Nevertheless, there is still a great need to improve the personalization of treatments based on genetic and epigenetic tumor profiles to maximize the quality and efficacy while limiting cytotoxicity. Currently, CEA and CA 19-9 are the only validated blood biomarkers in clinical practice.

Influence of disease severity, smoking status and therapy regimes on leukocyte subsets and their ratios in stable chronic obstructive pulmonary disease.

Introduction: Blood cells are involved in systemic inflammation in chronic obstructive pulmonary disease (COPD). We aimed to assess differences in leukocyte subsets and their ratios between COPD patients and healthy individuals as well as their association with disease severity, smoking status and therapy in COPD.

Material And Methods: One hundred and nine patients in the stable phase of COPD and 95 controls participated in the study.

The Academy of the European Federation of Clinical Chemistry and Laboratory Medicine and the European Register of Specialists in Laboratory Medicine: guide to the Academy and the Register, version 4 - 2020.

The 4th version of the guide to the Register for European Specialists in Laboratory Medicine (EuSpLM) established by the European Communities Confederation of Clinical Chemistry and Laboratory Medicine describes the transfer of the register to the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) in 2016, the extension in 2018 of the Register beyond the European Union to Europe and the benefits of membership of the EFLM Academy to which the Register transferred on the Academy's launch in 2019. The Academy offers EuSpLM registrants access to benefits that include reduced registration rates at selected conferences and free subscription to . With effect from 2020 eligibility was extended to anyone with an interest in laboratory medicine.

Lipid profile and atherogenic indices in patients with stable chronic obstructive pulmonary disease.

Background And Aims: Limited number of studies investigated lipid profile in chronic obstructive pulmonary disease (COPD) with inconsistent results. This study aimed to investigate lipid parameters in sera of patients with stable COPD and their associations with disease severity, smoking, comorbidities and therapy.

Methods And Results: The study included 137 COPD patients and 95 controls.

Uric acid and uric acid to creatinine ratio in the assessment of chronic obstructive pulmonary disease: Potential biomarkers in multicomponent models comprising IL-1beta.

Chronic obstructive pulmonary disease (COPD) is a complex and heterogeneous disease, with oxidative stress and inflammation implicated in its development. Uric acid (UA) could exert anti-oxidative, pro-oxidative or pro-inflammatory effects, depending on the specific context. It was recently shown that soluble UA, and not just its crystals, could activate the nucleotide-binding oligomerization domain-like receptor family pyrin domain-containing 3 (NLRP3) inflammasome, leading to interleukin (IL)-1β secretion.

Platelet indices in stable chronic obstructive pulmonary disease - association with inflammatory markers, comorbidities and therapy.

Introduction: Chronic obstructive pulmonary disease (COPD) is a complex inflammatory condition that can affect haemostasis. This study aimed to determine differences in platelet-related parameters between controls and COPD subjects. The hypothesis was that platelet indices are disturbed in COPD patients, and this would be accompanied by increased C-reactive protein (CRP), fibrinogen (Fbg) and white blood cells (WBC).

The European Federation of Clinical Chemistry and Laboratory Medicine syllabus for postgraduate education and training for Specialists in Laboratory Medicine: version 5 - 2018.

Although laboratory medicine practise varies across the European Union's (EU) member states, the extent of overlap in scope is such that a common syllabus describing the education and training associated with high-quality, specialist practise can be identified. In turn, such a syllabus can help define the common set of skills, knowledge and competence in a Common Training Framework (CTF) for non-medical Specialists in Laboratory Medicine under EU Directive 2013/55/EU (The recognition of Professional Qualifications). In meeting the requirements of the directive's CTF patient safety is particularly enhanced when specialists seek to capitalise on opportunities for free professional migration across EU borders.

gene polymorphisms in patients with chronic obstructive pulmonary disease.

Aims: Chronic obstructive pulmonary disease (COPD) is characterised with oxidative stress. Paraoxonase 1 (PON1) is an enzyme, coded by gene, with distinctive antiatherogenic and antioxidative roles. We aimed to investigate the frequencies of Q192R, L55M and -108C>T polymorphisms and association of those polymorphisms with paraoxonase and arylesterase activities in patients with COPD.

Analysis of Loss of Heterozygosity, Expression, and IVS10+12G>A Polymorphism in Sporadic Colon Cancer.

Background: mutS homolog 2 (MSH2) deficiency may be involved in the development of microsatellite instability found in certain sporadic colorectal tumors. In addition to mutations or loss of heterozygosity resulting in complete loss of MSH2 function, polymorphisms affecting MSH2 expression have been also identified. Therefore, the aim of this study was to examine MSH2 status in sporadic colon cancer.

Effect of different pre-analytical conditions on plasma lactate concentration.

Introduction: Plasma lactate is a frequently used and important parameter for medical decision making. To setup a pre-analytical algorithm, we aimed to investigate the influence of different test tube additives, aliquoting, ice storage and haemolysis on plasma lactate concentrations for possible sparing critically ill (ICU) patients of additional blood drawing.

Materials And Methods: In our study (N = 177), lactate concentration and haemolysis index (HI) were measured in aliquoted (AHP) and unaliquoted (HP) Li-heparin, NaF/KEDTA and NaF/KOX plasma, centrifuged within 15 minutes after venipuncture, on Cobas c501 analyzer.

Changing the electronic request form proves to be an effective tool for optimizing laboratory test utilization in the emergency department.

Objectives: Appropriate laboratory utilization more often than not needs to be initiated by the laboratory. This study was performed to analyze the impact on test ordering patterns in the emergency department obtained by omitting certain tests from the electronic tick box request form. The tests could still be ordered by writing the full name of the test or by a phone call.

[The role of KRAS gene mutation testing in colorectal cancer--a predictive biomarker of response to EGFR inhibitors therapy].

Activation of KRAS oncogene has been implicated in colorectal carcinogenesis. KRAS mutations can be detected in more than 30% of all patients with colorectal cancer (CRC). Most recently, regimens that include anti-epidermal growth factor receptor (EGFR) targeted antibodies, cetuximab and panitumumab, for metastatic CRC have been developed.