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
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
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
Rhabdomyosarcomas (RMS) constitute a heterogeneous spectrum of tumors with respect to clinical behavior and tumor morphology. The paternal uniparental disomy (pUPD) of 11p15.5 is a molecular change described mainly in embryonal RMS. In addition to LOH, UPD, the MLPA technique (ME030kit) also determines copy number variants and methylation of H19 and KCNQ1OT1 genes, which have not been systematically investigated in RMS. All 127 RMS tumors were divided by histology and PAX status into four groups, pleomorphic histology (n = 2); alveolar RMS PAX fusion-positive (PAX+; n = 39); embryonal RMS (n = 70) and fusion-negative RMS with alveolar pattern (PAX-RMS-AP; n = 16). The following changes were detected; negative (n = 21), pUPD (n = 75), gain of paternal allele (n = 9), loss of maternal allele (n = 9), hypermethylation of H19 (n = 6), hypomethylation of KCNQ1OT1 (n = 6), and deletion of CDKN1C (n = 1). We have shown no difference in the frequency of pUPD 11p15.5 in all groups. Thus, we have proven that changes in the 11p15.5 are not only specific to the embryonal RMS (ERMS), but are often also present in alveolar RMS (ARMS). We have found changes that have not yet been described in RMS. We also demonstrated new potential diagnostic markers for ERMS (paternal duplication and UPD of whole chromosome 11) and for ARMS PAX+ (hypomethylation KCNQ1OT1).
PURPOSE: Recently, a new CT scan classification of the extent of previous endoscopic sinus surgery called The Amsterdam Classification of Completness of Endoscopic Sinus Surgery (ACCESS) was published. The aim of this study was to investigate possible associations between traditionally used Lund-Mackay CT score and ACCESS score and their possible relationship to pre- and postoperative quality of life in a narrowly defined group of patients with recurrent CRSwNP. METHODS: Forty-nine patients who underwent a revision ESS for CRSwNP were enrolled in a retrospective study. CT imaging scans were evaluated, LM and ACCESS scores determined. All patients completed the validated Czech version of the SNOT-22 questionnaire before and 6 months after surgery. The correlation between the two CT scores and the QoL questionnaire was tested using Pearson's correlation tests. RESULTS: No correlation was demonstrated between LM scores and patient-based SNOT-22 scores neither preopratively nor postoperatively (r = - 0.0580; p = 0.918 and r = 0.0252; p = 0.8634, respectively. Similarly, no correlation was found between the ACCESS score and SNOT-22 before and after surgery (r = - 0.1988; p = 0.1708 and r = - 0.943; p = 0.5193, respectively). No linear relationship was demonstrated between the LM score and the ACCESS score (r = 0.075; p = 0.6053). CONCLUSIONS: The results show that even the CT score evaluating the completeness of previous procedures has no linear relationship to the quality of life preoperatively and cannot serve as a predictor for the outcomes of surgical treatment. This study also confirms that ACCESS evaluates a different aspect of the radiological finding than the traditionally used LM score.
- MeSH
- chronická nemoc MeSH
- endoskopie metody MeSH
- kvalita života MeSH
- lidé MeSH
- nosní polypy * chirurgie MeSH
- počítačová rentgenová tomografie MeSH
- průzkumy a dotazníky MeSH
- retrospektivní studie MeSH
- rinitida * chirurgie MeSH
- sinusitida * chirurgie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, comprising only 3% of all head and neck tumors. Early diagnosis forms an integral part of the management of these tumors. The two main aims of any treatment approach are long-term tumor control and minimal cranial nerve morbidity. The scope of this article is to present our case series of HNPGLs to stress most important clinical aspects of their presentation as well as critical issues of their complex management. Thirty patients with suspected HNPGLs were referred to our otorhinolaryngology clinic for surgical consultation between 2016-2020. We assessed the demographical pattern, clinicoradiological correlation, as well as type and outcome of treatment. A total of 42 non-secretory tumors were diagnosed-16.7% were incidental findings and 97% patients had benign tumors. Six patients had multiple tumors. Jugular paragangliomas were the most commonly treated tumors. Tumor control was achieved in nearly 96% of operated patients with minimal cranial nerve morbidity. Surgery is curative in most cases and should be considered as frontline treatment modality in experienced hands for younger patients, hereditary and secretory tumors. Cranial nerve dysfunction associated with tumor encasement is a negative prognostic factor for both surgery and radiotherapy. Multifocal tumors and metastasis are difficult to treat, even with early detection using genetic analysis. Detecting malignancy in HNPGLs is challenging due to the lack of histomorphological criteria; therefore, limited lymph node dissection should be considered, even in the absence of clinical and radiological signs of metastasis in carotid body, vagal, and jugular paragangliomas.
- Publikační typ
- časopisecké články MeSH
We carried out a survey in the Czech Republic between January and February 2021 to evaluate the impact of COVID-19 on doctors working in the COVID-19 unit. A rise in 250,000 cases were seen in the Czech Republic during the time of the survey. The indirect impact of the disease on doctors working in COVID-19 units and strategies to control the situation in the Czech Republic were evaluated here. About 35% doctors were concerned with health issues, 40% had tested positive for SARS-CoV-2 antigen, 51% reported lack of support for those who had contracted COVID-19 and 163 agreed that medical, psychological counselling and financial services should be provided. Most doctors experienced moderate and severe degrees of psychological impact. Doctors with the least working experience and those with at least 21 to 35 years were most affected. Mental fatigue was the most common reported psychosomatic effect. The effects were higher in doctors who were more concerned about working in COVID-19 units. Around 87% agreed that the best strategy in controlling the situation in the Czech Republic would be 'preventive measures in combination with vaccination'. History shows us that pandemics can occur in multiple waves. Subsequent waves, inadequate support as well as unparalleled workload can lead to a serious rise in psychological disorders amongst HCWs worldwide.
- MeSH
- COVID-19 * MeSH
- duševní poruchy * MeSH
- lékaři * MeSH
- lidé MeSH
- pandemie MeSH
- SARS-CoV-2 MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
The SARS-CoV-2 virus causing the COVID-19 disease created considerable complications and disruptions due to it's pandemic spread. The nature of the disease left certain clinical specialties more vulnerable than others, causing serious problems with organization of care of patients. Most studies concentrated on protocols and strategies to control the situation and reduce further spread amongst medical fields. Only few were designed to identify the various issues faced by doctors. We decided to design a questionnaire addressing relevant matters for doctors working in the field of ear, nose and throat (ENT). This was then sent to all the members of the Czech Society of Otorhinolaryngology. All ENT doctors were invited to fill out the survey within a stipulated time. The aim of the study was to evaluate the impact of a pandemic situation amongst such a high risk specialty. Our results showed a significant difference between the first cases of COVID-19 and progress of the disease during April 2020 in terms of workplace preparation, adequacy of personal protective equipment and other disposable aids. There was also inadequate support of medical personnel within the ENT practices. Furthermore, financial losses were also experienced due to mainly patient-related problems. In conclusion, the obtained results were used to formulate some recommendations for the public, patients, medical staff and employers. These suggestions will hopefully help avoid a repetition of the glitches if faced with another pandemic situation.
- MeSH
- COVID-19 * MeSH
- lidé MeSH
- osobní ochranné prostředky MeSH
- otorinolaryngologické nemoci MeSH
- SARS-CoV-2 MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
