Understanding the burden of weekly somatrogon injections compared with daily somatropin injections in children with growth hormone deficiency: a plain language summary of publication.

• For children with growth deficiency, once-weekly injections were less of a burden than once-daily injections. • The safety of weekly was similar to that of daily . • Compared with daily injections, children with growth deficiency may be less likely to miss weekly injections.

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5].

A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation.

Background: Congenital myasthenic syndromes (CMSs) are characterized by hypotonia, episodic apnea, muscle weakness, ptosis and generalized fatigability. CMS type 20 (CMS20) is a rare disorder caused by variants in SLC5A7. In contrast to most other CMSs, CMS20 is also associated with neurodevelopmental disorders (NDDs).

Protocol for faecal microbiota transplantation in irritable bowel syndrome: the MISCEAT study - a randomised, double-blind cross-over study using mixed microbiota from healthy donors.

Introduction: Several studies have demonstrated dysbiosis in irritable bowel syndrome (IBS). Therefore, faecal microbiota transplantation, whose effect and safety have been proven in infections, may hold promise in other conditions, including IBS. Our study will examine the effectiveness of stool transfer with artificially increased microbial diversity in IBS treatment.

CD38: A target in relapsed/refractory acute lymphoblastic leukemia-Limitations in treatment and diagnostics.

Daratumumab, an anti-CD38 antibody, is used experimentally in the treatment of relapsed acute lymphoblastic leukemia (ALL). We treated five patients suffering from relapsed ALL with daratumumab. Four patients had T ALL, three of whom achieved complete remission (CR) after treatment and underwent stem cell transplant (SCT).

Dysglycemia and Abnormal Adiposity Drivers of Cardiometabolic-Based Chronic Disease in the Czech Population: Biological, Behavioral, and Cultural/Social Determinants of Health.

In contrast to the decreasing burden related to cardiovascular disease (CVD), the burden related to dysglycemia and adiposity complications is increasing in Czechia, and local drivers must be identified. A comprehensive literature review was performed to evaluate biological, behavioral, and environmental drivers of dysglycemia and abnormal adiposity in Czechia. Additionally, the structure of the Czech healthcare system was described.

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe an autosomal dominant disorder associated with de novo missense variants in the degron of AFF3, a nine amino acid sequence important for its binding to ubiquitin ligase, or with de novo deletions of this region. The sixteen affected individuals we identified, along with two previously reported individuals, present with a recognizable pattern of anomalies, which we named KINSSHIP syndrome (KI for horseshoe kidney, NS for Nievergelt/Savarirayan type of mesomelic dysplasia, S for seizures, H for hypertrichosis, I for intellectual disability, and P for pulmonary involvement), partially overlapping the AFF4-associated CHOPS syndrome.

The Prevalence of Dysglycemia-Based Chronic Disease in a European Population - a New Paradigm to Address Diabetes Burden: A Kardiovize Study.

Objective: To determine the prevalence rate and associated risk factors for each stage of the Dysglycemia-Based Chronic Disease (DBCD) model, which 4 distinct stages and prompts early prevention to avert Diabetes and cardiometabolic complications.

Methods: Subjects between 25 and 64 years old from a random population-based sample were evaluated in Czechia from 2013 to 2014 using a cross-sectional design. DBCD stages were: stage 1 "insulin resistance" (inferred risk from abdominal obesity or a family history of diabetes); stage 2 "prediabetes"(fasting glucose between 5.

Psychiatry Trainees' Attitudes, Knowledge, and Training in Addiction Psychiatry-A European Survey.

Although psychoactive substance use disorders (PSUDs) are a domain of mental health, addiction psychiatry is only formally recognized as a subspecialty in a few European countries, and there is no standardized training curriculum. A 76-item questionnaire was developed and disseminated through an online anonymous data-collecting system and hand-to-hand amongst psychiatric trainees from the 47 European countries of the Council of Europe plus Israel and Belarus. 1,049/1,118 psychiatric trainees from 30 European countries completed the questionnaire.

Can Maternal Autoantibodies Play an Etiological Role in ASD Development?

Autism spectrum disorder (ASD) is a heterogeneous condition with multiple etiologies and risk factors - both genetic and environmental. Recent data demonstrate that the immune system plays an important role in prenatal brain development. Deregulation of the immune system during embryonic development can lead to neurodevelopmental changes resulting in ASD.

Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics.

Background: Genetic testing rapidly penetrates into all medical specialties and medical students must acquire skills in this area. However, many of them consider it difficult. Furthermore, many find these topics less appealing and not connected to their future specialization in different fields of clinical medicine.

Diffusion Tensor Imaging And Tractography In Autistic, Dysphasic, And Healthy Control Children.

Background: Diffusion tensor imaging (DTI) is a powerful tool for investigating brain anatomical connectivity. The aim of our study was to compare brain connectivity among children with autism spectrum disorders (ASD), developmental dysphasia (DD), and healthy controls (HC) in the following tracts: the arcuate fasciculus (AF), inferior frontal occipital fasciculus (IFOF), inferior longitudinal fasciculus (ILF), and uncinate fasciculus (UF).

Methods: Our sample consisted of 113 children with a mean age 8.

Bulimia symptoms in Czech youth: prevalence and association with internalizing problems.

Objective: Although clinical studies suggest that bulimia symptoms are common in youth, research on the prevalence of such symptoms and of their association with comorbid internalizing problems in the general population has been limited. This study aimed to evaluate the gender-specific prevalence of bulimia symptoms in Czech youth and explored the association between a clinical level of self-reported bulimia symptoms (CLBS) and internalizing problems by gender, controlling for age, socio-economic status and puberty status.

Method: The study was conducted on a representative national sample of Czech youth (N = 4430, 57.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

The RNA polymerase II complex (pol II) is responsible for transcription of all ∼21,000 human protein-encoding genes. Here, we describe sixteen individuals harboring de novo heterozygous variants in POLR2A, encoding RPB1, the largest subunit of pol II. An iterative approach combining structural evaluation and mass spectrometry analyses, the use of S.

Tyrosine kinase inhibitors in the first-line treatment for metastatic nonclear cell renal carcinoma: A retrospective analysis of a national database.

Background: Nonclear cell renal cell carcinoma (nccRCC) is a heterogeneous group of primary kidney tumors. The aim of the present retrospective study was to analyze outcomes of patients with nccRCC treated with tyrosine-kinase inhibitors (TKIs) based on a national registry.

Methods: The registry contained evaluable data of 93 nccRCC patients treated with first-line TKIs, including 87 patients with papillary renal cell carcinoma (RCC) and 6 patients with chromophobe RCC.

Intravenous Thrombolysis in Patients with Acute Ischemic Stroke after a Reversal of Dabigatran Anticoagulation with Idarucizumab: A Real-World Clinical Experience.

Background: Intravenous thrombolysis (IVT) is contraindicated in patients with acute ischemic stroke (AIS) using oral anticoagulants. A specific human monoclonal antibody was introduced to reverse immediately the anticoagulation effect of the direct inhibitor of thrombin, dabigatran. Until now, mostly individual cases presenting with successful IVT after a reversal of dabigatran anticoagulation in patients with AIS were published.

Somatic symptoms and internalizing problems in urban youth: a cross-cultural comparison of Czech and Russian adolescents.

Background: Although the association between somatic complaints and internalizing problems (anxiety, somatic anxiety and depression) is well established, it remains unclear whether the pattern of this relationship differs by gender and in different cultures. The aim of this study was to examine cross-cultural and gender-specific differences in the association between somatic complaints and internalizing problems in youth from the Czech Republic and Russia.

Methods: The Social and Health Assessment, a self-report survey, was completed by representative community samples of adolescents, age 12-17 years, from the Czech Republic (N = 4770) and Russia (N = 2728).

Community violence exposure and substance use: cross-cultural and gender perspectives.

The negative effects of community violence exposure on child and adolescent mental health are well documented and exposure to community violence has been linked both to a number of internalizing and externalizing symptoms. Our aim was, therefore, to investigate cross-cultural and gender differences in the relationship between community violence exposure and substance abuse. A self-report survey was conducted among 10,575, 12-18 year old adolescents in three different countries, Czech Republic (N = 4537), Russia (N = 2377) and US (N = 3661).

Some children with autism have latent social skills that can be tested.

Background: The idea of latent social skills in autism emerged as a possible interpretation of the rapid (but temporary) improvement of autistic subjects in oxytocin studies. We tested a hypothesis that a normal response to Item No 59 "Secure Base" from the third version of the Autism Diagnostic Interview - Revised (ADIR-59) could indicate the presence of latent social skills in autism.

Methods: We examined 110 autistic children (88 boys and 22 girls) with a mean age of 6.