OBJECTIVE: In the Czech Republic, over 97% of all pregnant women undergo some type of antenatal screening for Down's syndrome. In about 95% of cases with a confirmed fetal chromosomal abnormality, the pregnancy is terminated. The most commonly used test is the first trimester combined test. We investigated the impact of implementing an integrated sequential test to improve the detection of Down's syndrome pregnancies. METHODS: Data on the incidence of congenital defects, number of births, and affected pregnancies terminated are recorded in the National Registry of Congenital Anomalies. Anonymous data on cases of Down's syndrome diagnosed antenatally or postnatally between 2010 and 2015 in one of the large antenatal care centers were analyzed. RESULTS: There were 600 diagnoses of Down's syndrome (5.7 per 1000 births), 90% of which were made antenatally. Of antenatally detected cases, 80% were indicated for diagnostic procedure by multimarker screening results. In the multimarker screen positive group, 75% cases were first trimester positive and 25% second trimester positive (most of these had positive integrated test results). Among Down's syndrome cases indicated for antenatal diagnosis by multimarker screening results 6.25% (n = 26) were first trimester negative, and became positive after integration with the second trimester screening results. CONCLUSIONS: Results from five major Czech antenatal centers confirm that an integrated sequential test would detect 80-85% of Down's syndrome fetuses in the first trimester and at least an extra 5-10% of Down's syndrome pregnancies in the second trimester of pregnancy. These are important data that should be considered in implementing the national antenatal screening program.

• Klíčová slova
• Antenatal screening, Down’s syndrome, integrated test,
• MeSH
• algoritmy MeSH
• bezbuněčný systém MeSH
• dospělí MeSH
• Downův syndrom diagnóza   MeSH
• druhý trimestr těhotenství MeSH
• falešně pozitivní reakce MeSH
• lidé MeSH
• lidský choriogonadotropin, beta podjednotka krev   MeSH
• měření nuchální translucence MeSH
• peptidové fragmenty krev   MeSH
• plošný screening metody   MeSH
• prenatální diagnóza metody   MeSH
• první trimestr těhotenství MeSH
• registrace MeSH
• rozhodování MeSH
• těhotenský plazmatický protein A metabolismus   MeSH
• těhotenství MeSH
• ultrasonografie prenatální MeSH
• věk matky MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• lidský choriogonadotropin, beta podjednotka MeSH
• PAPPA protein, human MeSH Prohlížeč
• peptidové fragmenty MeSH
• těhotenský plazmatický protein A MeSH
• urinary gonadotropin fragment MeSH Prohlížeč

OBJECTIVE: The aim of this comprehensive paper is to acquaint the readers with evaluation of the retinal images using the arteficial intelligence (AI). Main focus of the paper is diabetic retinophaty (DR) screening. The basic principles of the artificial intelligence and algorithms that are already used in clinical practice or are shortly before approval will be described. METHODOLOGY: Describing the basic characteristics and mechanisms of different approaches to the use of AI and subsequently literary minireview clarifying the current state of knowledge in the area. RESULTS: Modern systems for screening diabetic retinopathy using deep neural networks achieve a sensitivity and specificity of over 80 % in most published studies. The results of specific studies vary depending on the definition of the gold standard, number of images tested and on the evaluated parameters. CONCLUSION: Evaluation of images using AI will speed up and streamline the diagnosis of DR. The use of AI will allow to keep the quality of the eye care at least on the same level despite the raising number of the patients with diabetes.

• Klíčová slova
• Diabetic retinopathy, artificial intelligence, diabetic retinopathy, mass screening, screening,
• MeSH
• algoritmy MeSH
• diabetes mellitus * MeSH
• diabetická retinopatie * diagnóza   MeSH
• inteligence MeSH
• lidé MeSH
• plošný screening MeSH
• umělá inteligence MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

AIM: The aim of this study was to develop an algorithm to prompt early clinical suspicion of mucopolysaccharidosis type I (MPS I). METHODS: An international working group was established in 2016 that comprised 11 experts in paediatrics, rare diseases and inherited metabolic diseases. They reviewed real-world clinical cases, selected key signs or symptoms based on their prevalence and specificity and reached consensus about the algorithm. The algorithm was retrospectively tested. RESULTS: An algorithm was developed. In patients under two years of age, kyphosis or gibbus deformity were the key symptoms that raised clinical suspicion of MPS I and in those over two years they were kyphosis or gibbus deformity, or joint stiffness or contractures without inflammation. The algorithm was tested on 35 cases, comprising 16 Hurler, 10 Hurler-Scheie, and nine Scheie patients. Of these 35 cases, 32 (91%) - 16 Hurler, nine Hurler-Scheie and seven Scheie patients - would have been referred earlier if the algorithm had been used. CONCLUSION: The expert panel developed and tested an algorithm that helps raise clinical suspicion of MPS I and would lead to a more prompt final diagnosis and allow earlier treatment.

• Klíčová slova
• Algorithm, Diagnosis, Kyphosis, Mucopolysaccharidosis, Symptoms,
• MeSH
• algoritmy * MeSH
• časná diagnóza * MeSH
• dítě MeSH
• hodnocení rizik MeSH
• internacionalita MeSH
• konsensus MeSH
• lidé MeSH
• mukopolysacharidóza I diagnóza   terapie   MeSH
• multimorbidita MeSH
• novorozenec MeSH
• novorozenecký screening metody   MeSH
• předškolní dítě MeSH
• prognóza MeSH
• progrese nemoci MeSH
• retrospektivní studie MeSH
• sexuální faktory MeSH
• stupeň závažnosti nemoci MeSH
• věkové faktory MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

The aim of this paper is to review the diagnostics of congenital disorders of glycosylation (CDG), an ever expanding group of diseases. Development delay, neurological, and other clinical abnormalities as well as various non-specific laboratory changes can lead to the first suspicion of the disease. Still common screening test for most CDG types, including CDG Ia, is isoelectric focusing/polyacrylamide gel electrophoresis (IEF). IEF demonstrates the hypoglycosylation of various glycoproteins, usually serum transferrin. Other methods, such as agarose electrophoresis, capillary electrophoresis, high-performance liquid chromatography, micro-column separation combined with turbidimetry, enzyme-(EIA) and radioimmunoassay (RIA) have also been used for screening. However, these methods do not recognize all CDG defects, so other approaches including analysis of membrane-linked markers and urine oligosaccharides should be taken. Confirmation of diagnosis and detailed CDG subtyping starts with thorough structure analysis of the affected lipid-linked oligosaccharide or protein-(peptide)-linked-glycan using metabolic labeling and various (possibly mass-spectrometry combined) techniques. Decreased enzyme activity in peripheral leukocytes/cultured fibroblasts or analysis of affected transporters and other functional proteins combined with identification of specific gene mutations confirm the diagnosis. Prenatal diagnosis, based on enzyme assay or mutation analysis, is also available. Peri-/post-mortem investigations of fatal cases are important for genetic counseling. Evaluation of various analytical approaches and proposed algorithms for investigation complete the review.

• MeSH
• algoritmy MeSH
• biologické markery MeSH
• glykosylace MeSH
• lidé MeSH
• plošný screening * MeSH
• vrozené poruchy metabolismu sacharidů diagnóza   genetika   metabolismus   MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH
• Názvy látek
• biologické markery MeSH

BACKGROUND: Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. OBJECTIVES: We sought to validate a recently introduced scoring algorithm for dystonia, predicting the diagnostic utility of whole-exome sequencing (WES) based on individual phenotypic aspects (age-at-onset, body distribution, presenting comorbidity). METHODS: We prospectively enrolled a set of 209 dystonia-affected families and obtained summary scores (0-5 points) according to the algorithm. Singleton (N = 146), duo (N = 11), and trio (N = 52) WES data were generated to identify genetic diagnoses. RESULTS: Diagnostic yield was highest (51%) among individuals with a summary score of 5, corresponding to a manifestation of early-onset segmental or generalized dystonia with coexisting non-movement disorder-related neurological symptoms. Sensitivity and specificity at the previously suggested threshold for implementation of WES (3 points) was 96% and 52%, with area under the curve of 0.81. CONCLUSIONS: The algorithm is a useful predictive tool and could be integrated into dystonia routine diagnostic protocols. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.

• Klíčová slova
• diagnostic yield, dystonia, exome sequencing, prediction, rare disease, scoring algorithm,
• MeSH
• algoritmy MeSH
• dystonické poruchy * genetika   MeSH
• dystonie * diagnóza   genetika   MeSH
• genetické testování MeSH
• lidé MeSH
• Parkinsonova nemoc * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

OBJECTIVES: Sarcopenia imposes significant morbidity and economic burden on health care systems, underscoring the critical need for early/effective screening and diagnosis. This study aimed to develop a machine learning (ML)-based algorithm to facilitate the screening/diagnosis of sarcopenia. DESIGN: A cross-sectional case-control study. SETTING AND PARTICIPANTS: This multicenter study enrolled subjects aged ≥45 years. METHODS: Demographic data such as age, weight, height, education/exercise status, smoking, and comorbid diseases were obtained. Sarcopenia was diagnosed using the basic and ML-based algorithms, which incorporate low quadriceps muscle mass/thickness, combined with prolonged chair stand test (CST) duration and/or reduced hand grip strength (HGS). RESULTS: Of 5649 participants (1379 males, 24.4%), 1097 of them (19.4%) were sarcopenic. Using the ML-based model, significantly associated factors with sarcopenia were age, weight, height, education level, exercise status, and presence of hypertension and diabetes mellitus. Of the various ML models, the Gradient Boosting Classifier (GBC) demonstrated the highest performance in predicting sarcopenia in the holdout test data. For the ML-augmented algorithm, the recall value was 0.979; the precision value was 0.926, and the accuracy value was 0.980 for making the diagnosis of sarcopenia. When compared with the basic sarcopenia algorithm, the ML-augmented algorithm further decreased the need for HGS and ultrasound by 38.1% and 49.5%, respectively, demonstrating its effectiveness in optimizing sarcopenia diagnosis while minimizing testing required for medical device(s). CONCLUSIONS AND IMPLICATIONS: The ML-based algorithm significantly reduces the need for testing/imaging in the diagnosis of sarcopenia. It facilitates the identification of sarcopenia particularly in the primary and secondary care settings and decreases the number of individuals who should be referred for further evaluation.

• Klíčová slova
• Quadriceps muscle, artificial intelligence, hand grip strength, health care costs, ultrasound,
• MeSH
• algoritmy MeSH
• hodnocení rizik metody   MeSH
• lidé středního věku MeSH
• lidé MeSH
• plošný screening * metody   MeSH
• průřezové studie MeSH
• sarkopenie * diagnóza   MeSH
• senioři MeSH
• strojové učení * MeSH
• studie případů a kontrol MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH

OBJECTIVES: Refeeding syndrome (RFS) can be a life-threatening metabolic condition after nutritional replenishment if not recognized early and treated adequately. There is a lack of evidence-based treatment and monitoring algorithm for daily clinical practice. The aim of the study was to propose an expert consensus guideline for RFS for the medical inpatient (not including anorexic patients) regarding risk factors, diagnostic criteria, and preventive and therapeutic measures based on a previous systematic literature search. METHODS: Based on a recent qualitative systematic review on the topic, we developed clinically relevant recommendations as well as a treatment and monitoring algorithm for the clinical management of inpatients regarding RFS. With international experts, these recommendations were discussed and agreement with the recommendation was rated. RESULTS: Upon hospital admission, we recommend the use of specific screening criteria (i.e., low body mass index, large unintentional weight loss, little or no nutritional intake, history of alcohol or drug abuse) for risk assessment regarding the occurrence of RFS. According to the patient's individual risk for RFS, a careful start of nutritional therapy with a stepwise increase in energy and fluids goals and supplementation of electrolyte and vitamins, as well as close clinical monitoring, is recommended. We also propose criteria for the diagnosis of imminent and manifest RFS with practical treatment recommendations with adoption of the nutritional therapy. CONCLUSION: Based on the available evidence, we developed a practical algorithm for risk assessment, treatment, and monitoring of RFS in medical inpatients. In daily routine clinical care, this may help to optimize and standardize the management of this vulnerable patient population. We encourage future quality studies to further refine these recommendations.

• Klíčová slova
• Hypophosphatemia, Nutritional therapy, Refeeding syndrome, Treatment recommendation,
• MeSH
• algoritmy * MeSH
• hodnocení rizik normy   MeSH
• hodnocení stavu výživy * MeSH
• hospitalizovaní pacienti MeSH
• konsensus MeSH
• lékařská praxe založená na důkazech normy   MeSH
• lidé MeSH
• metody pro podporu rozhodování * MeSH
• plošný screening normy   MeSH
• realimentační syndrom diagnóza   prevence a kontrola   MeSH
• rizikové faktory MeSH
• směrnice pro lékařskou praxi jako téma MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

PURPOSE: Genetic testing in consanguineous families advances the general comprehension of pathophysiological pathways. However, short stature (SS) genetics remain unexplored in a defined consanguineous cohort. This study examines a unique pediatric cohort from Sulaimani, Iraq, aiming to inspire a genetic testing algorithm for similar populations. METHODS: Among 280 SS referrals from 2018-2020, 64 children met inclusion criteria (from consanguineous families; height ≤ -2.25 SD), 51 provided informed consent (30 females; 31 syndromic SS) and underwent investigation, primarily via exome sequencing. Prioritized variants were evaluated by the American College of Medical Genetics and Genomics standards. A comparative analysis was conducted by juxtaposing our findings against published gene panels for SS. RESULTS: A genetic cause of SS was elucidated in 31 of 51 (61%) participants. Pathogenic variants were found in genes involved in the GH-IGF-1 axis (GHR and SOX3), thyroid axis (TSHR), growth plate (CTSK, COL1A2, COL10A1, DYM, FN1, LTBP3, MMP13, NPR2, and SHOX), signal transduction (PTPN11), DNA/RNA replication (DNAJC21, GZF1, and LIG4), cytoskeletal structure (CCDC8, FLNA, and PCNT), transmembrane transport (SLC34A3 and SLC7A7), enzyme coding (CYP27B1, GALNS, and GNPTG), and ciliogenesis (CFAP410). Two additional participants had Silver-Russell syndrome and 1 had del22q.11.21. Syndromic SS was predictive in identifying a monogenic condition. Using a gene panel would yield positive results in only 10% to 33% of cases. CONCLUSION: A tailored testing strategy is essential to increase diagnostic yield in children with SS from consanguineous populations.

• Klíčová slova
• Consanguinity, Genetic testing algorithm, Pediatric endocrinology, Short stature, Short stature genes,
• MeSH
• algoritmy MeSH
• dítě MeSH
• genetické testování * metody   MeSH
• lidé MeSH
• mladiství MeSH
• nanismus * genetika   epidemiologie   diagnóza   MeSH
• pokrevní příbuzenství MeSH
• předškolní dítě MeSH
• rodokmen MeSH
• sekvenování exomu MeSH
• tělesná výška genetika   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Irák epidemiologie   MeSH

An algorithm of evaluation of diagnostic data for electronic screening of subclinical and clinical mastitis was derived from 5848 field measurements of the electric conductivity of mammary gland secretions and from the same number of clinical, bacteriological and cytological examinations of 92 dairy cows. The algorithm consists in the calculation of arithmetical mean of the two highest values of mixed, i.e. absolute, and or differential conductivity of a seven-day sliding cycle. Regardless of the intensity of disease forms, for healthy and colonized mammary glands, for mammary glands suffering from nonspecific subclinical mastitis, infectious subclinical mastitis and infectious clinical mastitis, the overall agreement with findings according to repeated clinical, bacteriological and cytological examinations made 88.8% with 4.2% of falsely negative and 7.0% of falsely positive findings. The overall agreement for persistent forms of diseases made 95.3% without falsely negative findings and with 4.7% of falsely positive findings.

• MeSH
• elektrická vodivost MeSH
• mastitida skotu diagnóza   MeSH
• mléko * MeSH
• skot MeSH
• zvířata MeSH
• Check Tag
• skot MeSH
• zvířata MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

PURPOSE: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. METHODS: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8). Markers and decision limits were converted to multiples of the median (MoM) to allow comparison between centres. RESULTS: NBS programmes, algorithms and decision limits varied considerably. Only nine centres used the recommended second-tier marker total homocysteine (tHcy). The median decision limits of all centres were ≥ 2.35 for high and ≤ 0.44 MoM for low methionine, ≥ 1.95 for high and ≤ 0.47 MoM for low methionine/phenylalanine, ≥ 2.54 for high propionylcarnitine and ≥ 2.78 MoM for propionylcarnitine/acetylcarnitine. These decision limits alone had a 100%, 100%, 86% and 84% sensitivity for the detection of CBSD, MATI/IIID, iRMD and cRMD, respectively, but failed to detect six individuals with cRMD. To enhance sensitivity and decrease second-tier testing costs, we further adapted these decision limits using the data of 15 000 healthy newborns. CONCLUSIONS: Due to the favorable outcome of early treated patients, NBS for homocystinurias is recommended. To improve NBS, decision limits should be revised considering the population median. Relevant markers should be combined; use of the postanalytical tools offered by the CLIR project (Collaborative Laboratory Integrated Reports, which considers, for example, birth weight and gestational age) is recommended. tHcy and methylmalonic acid should be implemented as second-tier markers.

• MeSH
• acylkarnitin metabolismus   MeSH
• fenylalanin metabolismus   MeSH
• glycin-N-methyltransferasa nedostatek   metabolismus   MeSH
• homocystein metabolismus   MeSH
• homocystinurie diagnóza   metabolismus   MeSH
• karnitin analogy a deriváty   metabolismus   MeSH
• kyselina methylmalonová metabolismus   MeSH
• lidé MeSH
• methionin metabolismus   MeSH
• methylentetrahydrofolátreduktasa (NADPH2) nedostatek   metabolismus   MeSH
• novorozenec MeSH
• novorozenecký screening metody   MeSH
• psychotické poruchy diagnóza   metabolismus   MeSH
• svalová spasticita diagnóza   metabolismus   MeSH
• vrozené poruchy metabolismu aminokyselin diagnóza   metabolismus   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• acylkarnitin MeSH
• fenylalanin MeSH
• glycin-N-methyltransferasa MeSH
• homocystein MeSH
• karnitin MeSH
• kyselina methylmalonová MeSH
• methionin MeSH
• methylentetrahydrofolátreduktasa (NADPH2) MeSH
• propionylcarnitine MeSH Prohlížeč