Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.

In the last decade, undiagnosed disease programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases. In our single-center study, we have launched a pilot program for pediatric patients with undiagnosed diseases in the second-largest university hospital in the Czech Republic. This study was prospectively conducted at the Department of Pediatrics at University Hospital Brno between 2020 and 2023.

Acute polyneuropathy: a serious complication of levodopa/ /carbidopa intestinal gel treatment for Parkinson's Disease.

Aim Of Study: To determine whether a high dose of levodopa-carbidopa intestinal gel (LCIG), expressed as levodopa equivalent daily dose (LE daily dose), is a risk factor for acute polyneuropathy in patients treated with LCIG.

Clinical Rationale For Study: Treatment with LCIG is an effective device-assisted therapy in the advanced stages of Parkinson's Disease (PD). Polyneuropathy is a well-known complication of PD treatment.

Brain morphometry in hepatic Wilson disease patients.

Wilson disease (WD) primarily presents with hepatic and neurological symptoms. While hepatic symptoms typically precede the neurological manifestations, copper accumulates in the brain already in this patient group and leads to subclinical brain MRI abnormalities including T2 hyperintensities and atrophy. This study aimed to assess brain morphological changes in mild hepatic WD.

Altered Neural Processing of Interoception in Patients With Functional Neurological Disorder: A Task-Based fMRI Study.

Objective: Research suggests that disrupted interoception contributes to the development and maintenance of functional neurological disorder (FND); however, no functional neuroimaging studies have examined the processing of interoceptive signals in patients with FND.

Methods: The authors examined univariate and multivariate functional MRI neural responses of 38 patients with mixed FND and 38 healthy control individuals (HCs) during a task exploring goal-directed attention to cardiac interoception-versus-control (exteroception or rest) conditions. The relationships between interoception-related neural responses, heartbeat-counting accuracy, and interoceptive trait prediction error (ITPE) were also investigated for FND patients.

Differentiating Essential and Dystonic Head Tremor: Exploring Arm Position Effects.

Background: Head tremor poses diagnostic problems, especially when present as an isolated or predominant symptom.

Objectives: To assess how maneuvers activating upper limb postural tremor can help differentiate head tremor in essential tremor (ET) from dystonic tremor (DT) in cervical dystonia.

Methods: 48 patients with head tremor (25 ET, 23 DT), underwent clinical examination and accelerometric evaluation of head and upper limb tremor during routine tremor-inducing tasks.

Curcumin: A Potential Weapon in the Prevention and Treatment of Head and Neck Cancer.

Head and neck cancers (HNC) are aggressive, difficult-to-treat tumors that can be caused by genetic factors but mainly by lifestyle or infection caused by the human papillomavirus. As the sixth most common malignancy, it presents a formidable therapeutic challenge with limited therapeutic modalities. Curcumin, a natural polyphenol, is appearing as a promising multitarget anticancer and antimetastatic agent.

Utility of icobrain for brain volumetry in multiple sclerosis clinical practice.

Background: Few studies on multiple sclerosis (MS) have explored the variability of percentage brain volume change (PBVC) measurements obtained from different clinical MRIs. In a retrospective multicentre cohort study, we quantified the variability of annualised PBVC in clinical MRIs.

Methods: Clinical MRIs of relapse-onset MS patients were assessed by icobrain.

Investigating antibacterial and anti-inflammatory properties of synthetic curcuminoids.

The concept of intratumoral microbiota is gaining attention in current research. Tumor-associated microbiota can activate oncogenic signaling pathways such as NF-κB, thereby promoting tumor development and progression. Numerous studies have demonstrated that curcumin and its analogs possess strong antitumor effects by targeting the NF-κB signaling pathway, along with potent antibacterial properties.

Protamine 2 deficiency results in Septin 12 abnormalities.

There is a well-established link between abnormal sperm chromatin states and poor motility, however, how these two processes are interdependent is unknown. Here, we identified a possible mechanistic insight by showing that Protamine 2, a nuclear DNA packaging protein in sperm, directly interacts with cytoskeletal protein Septin 12, which is associated with sperm motility. Septin 12 has several isoforms, and we show, that in the sperm, the short one (Mw 36 kDa) is mis-localized, while two long isoforms (Mw 40 and 41 kDa) are unexpectedly lost in sperm chromatin-bound protein fractions.

The Role of HE4 in the Follow-Up of Advanced Ovarian, Fallopian Tube, and Primary Peritoneal Cancer-CEEGOG OX-01 Study.

: Ovarian, fallopian tube, and primary peritoneal cancers often share clinical characteristics and are typically diagnosed at advanced stages due to nonspecific symptoms. The utility of tumor markers, particularly CA125 and HE4, in the diagnosis and follow-up of these cancers remains an area of active investigation. : The CEEGOG (Central and Eastern European Gynecologic Oncology Group) OX-01 study aimed to evaluate HE4's role alongside CA125 in follow-up for advanced-stage ovarian, fallopian tube, and primary peritoneal cancers.

Ultrasound assessment of lymph nodes for staging of gynecological cancer: consensus opinion on terminology and examination technique.

The lymphatic pathway is an important route of metastasis in gynecological malignancy. Therefore, the examination of lymph nodes is an essential part of the ultrasound evaluation in patients with known or suspected gynecological malignancy. The lymph nodes most frequently involved in gynecological malignancy (apart from vulvar cancer) are parietal (retroperitoneal) and visceral abdominopelvic lymph nodes.

Ultrasound assessment of the pelvic sidewall: methodological consensus opinion.

A standardized methodology for the ultrasound evaluation of the pelvic sidewall has not been proposed to date. Herein, a collaborative group of gynecologists and gynecological oncologists with extensive ultrasound experience presents a systematic methodology for the ultrasonographic evaluation of structures within the pelvic sidewall. Five categories of anatomical structures are described (muscles, vessels, lymph nodes, nerves and ureters).

Pediatrics hyperuricemia in clinical practice: A retrospective analysis in 1753 children and adolescents with hyperuricemia.

Objectives: Serum levels of uric acid (S-UA) are influenced by the interaction of genetic and environmental factors; detailed studies of hyperuricemia in children are rare. This retrospective study aimed to analyze the causes, risk factors, and therapeutic approaches associated with the development of hyperuricemia in childhood.

Methods: In a single-center study, serum uric acid levels were analyzed in 33,900 samples from 13,890 children and adolescents<19 years (6760 girls and 7130 boys) obtained between 2013 and 2023.

Presence and extent of lymphovascular invasion in surgical stage I squamous cell carcinoma of the cervix: a comprehensive, international, multicentre, retrospective clinicopathological study.

The aim of this study was to determine whether the presence and extent of lymphovascular invasion (LVI) is prognostic in surgical stage I cervical squamous cell carcinoma (SCC). All available tumour slides and/or paraffin blocks from 426 patients with stage I cervical SCC treated surgically with curative intent were collected from 18 institutions and retrospectively analysed. Presence and extent of LVI (focal <5 spaces, extensive ≥5 spaces) were assessed on scanning magnification in large haematoxylin and eosin slide sets in 366 cases.

Cognitive Impact of Neurotropic Pathogens: Investigating Molecular Mimicry through Computational Methods.

Neurotropic pathogens, notably, herpesviruses, have been associated with significant neuropsychiatric effects. As a group, these pathogens can exploit molecular mimicry mechanisms to manipulate the host central nervous system to their advantage. Here, we present a systematic computational approach that may ultimately be used to unravel protein-protein interactions and molecular mimicry processes that have not yet been solved experimentally.

Exploring the Frontiers of Cell Temperature Measurement and Thermogenesis.

The precise measurement of cell temperature and an in-depth understanding of thermogenic processes are critical in unraveling the complexities of cellular metabolism and its implications for health and disease. This review focuses on the mechanisms of local temperature generation within cells and the array of methods developed for accurate temperature assessment. The contact and noncontact techniques are introduced, including infrared thermography, fluorescence thermometry, and other innovative approaches to localized temperature measurement.

Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants.

Background: The oculo-facio-cardio-dental syndrome (OFCD) is an ultra-rare multiple congenital anomaly. This report describes clinical findings emphasising dental phenotype in five, molecularly confirmed, female cases from two Czech families.

Case Presentation: Dental examinations were carried out.

Heart rhythm at hospital admission: A factor for survival and neurological outcome among ECPR recipients?

Background: The initial rhythm is a known predictor of survival in extracorporeal cardiopulmonary resuscitation (ECPR) patients. However, the effect of the rhythm at hospital admission on outcomes in these patients is less clear.

Methods: This observational, single-center study assessed the influence of the rhythm at hospital admission on 30-day survival and neurological outcomes at discharge in patients who underwent ECPR for out-of-hospital cardiac arrest (OHCA).

Optimizing prehabilitation in gynecologic malignancies: Improving acceptance, overcoming barriers, and managing program complexity.

Prehabilitation aims to improve patients' physical condition before a stressful event, such as surgery, and enhance recovery. Despite its potential benefits, many emerging prehabilitation programs face challenges in enrolling or retaining patients. In our prehabilitation study PHOCUS, which aims to prepare ovarian cancer patients for surgery, we have also encountered lower acceptance and retention rates.

Viruses and Mitochondrial Dysfunction in Neurodegeneration and Cognition: An Evolutionary Perspective.

Mitochondria, the cellular powerhouses with bacterial evolutionary origins, play a pivotal role in maintaining neuronal function and cognitive health. Several viruses have developed sophisticated mechanisms to target and disrupt mitochondrial function which contribute to cognitive decline and neurodegeneration. The interplay between viruses and mitochondria might be traced to their co-evolutionary history with bacteria and may reflect ancient interactions that have shaped modern mitochondrial biology.