OBJECTIVES: Hearing impairment can have major impacts on behavior, educational attainment, social status, and quality of life. In congenital hypothyroidism, the incidence of hearing impairment reaches 35-50%, while in acquired hypothyroidism there is a reported incidence of 25%. Despite this, knowledge of the pathogenesis, incidence and severity of hearing impairment remains greatly lacking. The aim of our study was to evaluate hearing in patients with acquired hypothyroidism. METHODS: 30 patients with untreated and newly diagnosed peripheral hypothyroidism (H) and a control group of 30 healthy probands (C) were enrolled in the study. Biochemical markers were measured, including median iodine urine concentrations (IUC) μg/L. The hearing examination included a subjective complaint assessment, otomicroscopy, tympanometry, transitory otoacoustic emission (TOAE), tone audiometry, and brainstem auditory evoked potential (BERA) examinations. The Mann-Whitney U test, Fisher's Exact test and multivariate regression were used for statistical analysis. RESULTS: The H and C groups had significantly different thyroid hormone levels (medians with 95% CI) TSH mU/L 13.3 (8.1, 19.3) vs. 1.97 (1.21, 2.25) p = 0 and fT4 pmol/L 10.4 (9.51, 11.1) vs. 15 (13.8, 16.7) p = 0. The groups did not significantly differ in age 39 (34, 43) vs. 41 (36,44) p = 0.767 and IUC 142 (113, 159) vs. 123 (101, 157) p = 0.814. None of the hearing examinations showed differences between the H and C groups: otomicroscopy (p = 1), tympanometry (p = 1), TOAE (p = 1), audiometry (p = 0.179), and BERA (p = 0.505). CONCLUSIONS: We did not observe any hearing impairment in adults with acquired hypothyroidism, and there were no associations found between hearing impairment and the severity of hypothyroidism or iodine status. However, some forms of hearing impairment, mostly mild, were very common in both studied groups.
- MeSH
- dospělí MeSH
- hypotyreóza * komplikace patofyziologie MeSH
- jod * moč MeSH
- lidé středního věku MeSH
- lidé MeSH
- nedoslýchavost * MeSH
- pilotní projekty MeSH
- studie případů a kontrol MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries, paragangliomas, and syringomyelia are uncommon diseases. Furthermore, in the absence of any genetic link and with less than five reported adult patients surviving unrepaired rare form of Tetralogy of Fallot, our case shows noteworthiness. The possibility of definitive treatment of these conditions is rendered unsafe due to this persistent defect. Thus, management and ongoing survival of this patient remains complex and challenging.
- Publikační typ
- časopisecké články MeSH
Background: Recent studies have suggested that pathogenic variants of the DICER1 gene could be a driver of alterations in some pediatric thyroid nodules, but data are still limited. The aim of this study was to detect variants in the DICER1 gene in a large cohort of pediatric thyroid nodules and then correlate them with clinicopathological data, with a focus on the disease prognosis in patients with thyroid carcinoma. Methods: This retrospective cohort study consisted of 350 pediatric and young adult patients (aged 2-21 years) with thyroid nodules, from whom 275 fresh-frozen thyroid nodule samples and 92 fine-needle aspiration biopsy (FNAB) samples were collected. After an analysis of variants in major genetic alterations of thyroid tumors, variants in the DICER1 gene were identified using next-generation sequencing and multiplex ligation-dependent probe amplification methods. Peripheral blood was analyzed from patients with DICER1-positive tumors. The results of genetic analysis were then correlated with clinicopathological data. Results: Variants in the DICER1 gene were detected in a total of 24/350 (6.9%; 95%CI [4.4;10.0]) pediatric and young adult patients, respectively, in 10/119 (8.4%; [4.1;14.9]) patients with benign fresh-frozen tissue, in 8/141 (5.7%; [1.9;9.5]) with papillary thyroid carcinoma (PTC) and in 6/86 (7.0%; [4.1;14.6]) patients with FNAB. No other gene alteration was found in DICER1-positive samples. Germline DICER1 variants were identified in 11/24 (45.8%; [25.6;67.2]) patients. Two somatic (biallelic) variants in the DICER1 gene were found in 9/24 (37.5%; [18.8;59.4]) thyroid nodules. Somatic deletions of at least 3 Mbp long were revealed in 2/24 (8.3%; [1.0;27.0]) cases. DICER1-positive PTCs were significantly associated with the follicular subtype of PTC (p = 0.001), encapsulation (p = 0.006) and were larger in size (p = 0.035), but with no extrathyroidal extension (p = 0.039), and less frequent lymph node metastases (p = 0.003) compared with DICER1-negative PTCs. Patients with DICER1-positive PTC had an excellent response to treatment in 75% of cases. Conclusions: Variants of the DICER1 gene are frequently found in the thyroid nodules of pediatric and young adult patients. In our patients, DICER1-positive PTCs showed low invasiveness. Our findings support considering more conservative management for DICER1-positive low-risk PTCs.
- MeSH
- DEAD-box RNA-helikasy * genetika MeSH
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- nádory štítné žlázy * genetika patologie MeSH
- papilární karcinom štítné žlázy genetika patologie MeSH
- předškolní dítě MeSH
- prognóza MeSH
- retrospektivní studie MeSH
- ribonukleasa III * genetika MeSH
- tenkojehlová biopsie MeSH
- uzly štítné žlázy * genetika patologie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Skeletální traumatologie prošla ve světě v poslední dekádě revolučními změnami v souvislosti s rozvojem technologií 3D tisku. Tento přehledový článek má za cíl přinést ucelený přehled o tom, jakým způsobem 3D tisk transformuje oblast léčby zlomenin a otevírá nové možnosti v řešení komplexních zlomenin. Využití 3D tisku v medicíně nabízí nový rozměr v přesnosti a individualizaci léčby, umožňuje vytváření personalizovaných chirurgických šablon, individualizovaných implantátů a nástrojů. Rozvoj 3D tisku je úzce propojen s dalšími technologickými pokroky, jako jsou metody augmentované reality, což představuje významný krok vpřed ve vizualizaci a plánování chirurgických zákroků. Přestože 3D aditivní technologie nabízí řadu výhod, její začlenění do běžné klinické praxe stále čelí mnoha výzvám. Tento článek rovněž zkoumá historii a vývoj technologie 3D tisku, materiály používané v medicíně, předoperační plánování, tvorbu chirurgických cíličů, výrobu pacient specifických implantátů a integraci této technologie spolu s metodami augmentované reality ve skeletální chirurgii, přičemž zdůrazňuje technické, logistické a etické výzvy při implementaci této technologie do chirurgické praxe.
The field of skeletal traumatology has undergone revolutionary changes worldwide over the last decade with the development of 3D printing technologies. This review aims to provide a comprehensive overview of how 3D printing is transforming fracture treatment and opening up new possibilities in the management of complex fractures. The use of 3D printing in medicine offers a new dimension in precision and customisation of treatment, enabling the creation of personalised surgical templates, individualised implants and tools. The development of 3D printing is closely linked to other technological advances, such as augmented reality methods, which represent a significant step forward in the visualisation and planning of surgical procedures. Although 3D printing offers many advantages, its integration into routine clinical practice still faces many challenges. This article examines the history and development of 3D printing technology, materials used in medicine, preoperative planning, the creation of surgical guides, the fabrication of patient-specific implants, and the integration of 3D printing and augmented reality in skeletal surgery, highlighting the technical, logistical, and ethical challenges of implementing this technology in surgical practice.
- MeSH
- 3D tisk * trendy MeSH
- biokompatibilní materiály MeSH
- design s pomocí počítače MeSH
- fraktury kostí * terapie MeSH
- kostní náhrady MeSH
- lidé MeSH
- traumatologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
In gait stability analysis, patients suffering from dysfunction problems are impacted by shifts in their dynamic balance. Monitoring the patients' progress is important for allowing physicians and patients to observe the rehabilitation process accurately. In this study, we designed a new methodology for classifying gait disorders to quantify patients' progress. The dataset in this study includes 84 measurements of 37 patients based on a physician's opinion. In this study, the system, which includes a Kinect camera to observe and store the frames of patients walking down a hallway, a key-point detector to detect the skeletal key points, and an encoder transformer classifier network integrated with generator-discriminator networks (ET-GD), is designed to evaluate the classification of gait dysfunction. The detector extracts the skeletal key points of patients. After feature engineering, the selected high-level features are fed into the proposed neural network to analyse patient movement and perform the final evaluation of gait dysfunction. The proposed network is inspired by the 1D encoder transformer, which is integrated with two main networks: a network for classification and a network to generate fake output data similar to the input data. Furthermore, we used a discriminator structure to distinguish between the actual data (input) and fake data (generated data). Due to the multi-structural networks in the proposed method, multi-loss functions need to be optimised; this increases the accuracy of the encoder transformer classifier.
- MeSH
- analýza chůze MeSH
- chůze (způsob) * MeSH
- chůze MeSH
- lidé MeSH
- neuronové sítě MeSH
- pohybové poruchy * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
INTRODUCTION: Aging negatively influences the structure of the human brain including the white matter. The objective of our study was to identify, using fixel-based morphometry, the age induced changes in the pathways connecting several regions of the central auditory system (inferior colliculus, Heschl's gyrus, planum temporale) and the pathways connecting these structures with parts of the limbic system (anterior insula, hippocampus and amygdala). In addition, we were interested in the extent to which the integrity of these pathways is influenced by hearing loss and tinnitus. METHODS: Tractographic data were acquired using a 3 T MRI in 79 volunteers. The participants were categorized into multiple groups in accordance with their age, auditory thresholds and tinnitus status. Fixel-based analysis was utilized to identify alterations in the subsequent three parameters: logarithm of fiber cross-section, fiber density, fiber density and cross-section. Two modes of analysis were used: whole brain analysis and targeted analysis using fixel mask, corresponding to the pathways connecting the aforementioned structures. RESULTS: A significantly negative effect of aging was present for all fixel-based metrics, namely the logarithm of the fiber cross-section, (7 % fixels in whole-brain, 14% fixels in fixel mask), fiber density (5 % fixels in whole-brain, 15% fixels in fixel mask), fiber density and cross section (7 % fixels in whole-brain, 19% fixels in fixel mask). Expressed age-related losses, exceeding 30% fixels, were particularly present in pathways connecting the auditory structures with limbic structures. The effect of hearing loss and/or tinnitus did not reach significance. CONCLUSIONS: Our results show that although an age-related reduction of fibers is present in pathways connecting several auditory regions, the connections of these structures with limbic structures are even more reduced. To what extent this fact influences the symptoms of presbycusis, such as decreased speech comprehension, especially in noise conditions, remains to be elucidated.
- Publikační typ
- časopisecké články MeSH
INTRODUCTION: Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, which are mostly benign in nature. Amongst all genes, Succinate Dehydrogenase Subunit D (SDHD) is the most commonly mutated in familial HNPGLs. In about 30% of HNPGLs, germline mutations in SDHD can also occur in the absence of positive family history, thus giving rise to "occult familial" cases. Our aim was to evaluate the pattern of SDHD germline mutations in Czech patients with HNPGLs. MATERIALS AND METHODS: We analyzed a total of 105 patients with HNPGLs from the Otorhinolaryngology departments of 2 tertiary centers between 2006 - 2021. All underwent complex diagnostic work-up and were also consented for genetic analysis. RESULTS: Eighty patients aged 13-76 years were included; around 60% with multiple PGLs were males. Carotid body tumor was the most frequently diagnosed tumor. Germline SDHD mutation was found in only 12% of the Czech patients; approximately 78% of those harboring the mutation had negative family history. The mutation traits had higher affiliation for multiple tumors with nearly 70% patients of ≤ 40 years of age. CONCLUSION: An SDHD mutation variant was shared amongst unrelated patients but no founder-effect was established. Our findings confirmed that the pattern of SDHD mutation distribution amongst HNPGLs in Czech Republic differs from most studies worldwide.
- MeSH
- dospělí MeSH
- incidence MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mutace MeSH
- nechromafinní paragangliom * MeSH
- paragangliom * epidemiologie genetika diagnóza MeSH
- senioři MeSH
- sukcinátdehydrogenasa genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
Thyroid cancer is associated with a broad range of different mutations, including RET (rearranged during transfection) fusion genes. The importance of characterizing RET fusion-positive tumors has recently increased due to the possibility of targeted treatment. The aim of this study was to identify RET fusion-positive thyroid tumors, correlate them with clinicopathological features, compare them with other mutated carcinomas, and evaluate long-term follow-up of patients. The cohort consisted of 1564 different thyroid tissue samples (including 1164 thyroid carcinoma samples) from pediatric and adult patients. Samples were analyzed for known driver mutations occurring in thyroid cancer. Negative samples were subjected to extensive RET fusion gene analyses using next-generation sequencing and real-time PCR. RET fusion genes were not detected in any low-risk neoplasm or benign thyroid tissue and were detected only in papillary thyroid carcinomas (PTCs), in 113/993 (11.4%) patients, three times more frequently in pediatric and adolescent patients (29.8%) than in adult patients (8.7%). A total of 20 types of RET fusions were identified. RET fusion-positive carcinomas were associated with aggressive tumor behavior, including high rates of lymph node (75.2%) and distant metastases (18.6%), significantly higher than in NTRK fusion, BRAF V600E and RAS-positive carcinomas. Local and distant metastases were also frequently found in patients with microcarcinomas positive for the RET fusions. 'True recurrences' occurred rarely (2.4%) and only in adult patients. The 2-, 5-, 10-year disease-specific survival rates were 99%, 96%, and 95%, respectively. RET fusion-positive carcinomas were associated with high invasiveness and metastatic activity, but probably due to intensive treatment with low patient mortality.
- MeSH
- dítě MeSH
- dospělí MeSH
- karcinom * MeSH
- lidé MeSH
- mladiství MeSH
- mutace MeSH
- nádory štítné žlázy * genetika patologie MeSH
- papilární karcinom štítné žlázy MeSH
- prognóza MeSH
- protoonkogenní proteiny B-raf genetika MeSH
- protoonkogenní proteiny c-ret genetika MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
OBJECTIVES: The objective of this study is to address issues faced by doctors working in the COVID-19 units during the second phase of COVID-19 in the Czech Republic, when the country registered the highest per capita rate of new COVID-19 cases in the world. METHODS: A prospective study was designed using Google online questionnaire. Inclusion criteria were doctors from medical and surgical specialties working in COVID-19 units. The Czech Medical Association was approached in obtaining permission and helping us distribute the questionnaire with an introductory message with the aims of the study via email to the chairpersons of 18 medical and surgical Czech Societies and their respective members. The online questionnaire link was active for 31 days. Completion of a questionnaire implied consent to participate. Data was collected from the completed responses and statistical analysis was done. RESULTS: Fifteen out of eighteen invited Societies participated in the study. Out of all the transferred or volunteering doctors at the COVID units, 47.6% were from 9 medical specialties and 52.4% from 6 surgical units. The highest transfers were seen amongst male surgeons with 21 to 35 years of work experience, whilst the youngest group of doctors made the highest contribution. There was no statistical significance between the effects of COVID-19 and gender. Despite adequate medical provisions, 42% of all doctors had issues with procedural diagnostic methods, 40% tested positive for COVID-19 and 31% reported staff reduction leading to diminished patients' admissions and compromised care. Doctors from surgical departments experienced more difficulties in working in COVID-19 units. Furthermore, on contraction of COVID-19, 114 doctors asserted a lack of support and another 26% were unaware of any services. CONCLUSIONS: Our survey reiterates the relationship between factors related to occupational health and safety, standards of patient care and possibility of medicolegal consequences with the continuing COVID-19 pandemic.
- MeSH
- COVID-19 * MeSH
- lékaři * MeSH
- lidé MeSH
- pandemie MeSH
- prospektivní studie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
