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
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
Multiple head and neck paragangliomas (HNPGLs) are neuroendocrine tumors of a mostly benign nature that can be associated with a syndrome, precipitated by the presence of a germline mutation. Familial forms of the disease are usually seen with mutations of SDHx genes, especially the SDHD gene. SDHB mutations are predisposed to malignant tumors. We found 6 patients with multiple tumors amongst 30 patients with HNPGLs during the period of 2016 to 2021. We discuss the phenotypic and genetic patterns in our patients with multiple HNPGLs and explore the management possibilities related to the disease. Fifty percent of our patients had incidental findings of HNPGLs. Twenty-one biochemically silent tumors were found. Four patients had germline mutations, and only one had a positive family history. Three out of five underwent surgery without permanent complications. Preventative measures (genetic counselling and tumor surveillance) represent the gold standard in effectively controlling the disease in index patients and their relatives. In terms of treatment, apart from surgical and radiotherapeutic interventions, new therapeutic measures such as gene targeted therapy have contributed very sparsely. With the lack of standardized protocols, management of patients with multiple HNPGLs still remains very challenging, especially in those with sporadic or malignant forms of the disease.
- Publikační typ
- časopisecké články MeSH
OBJECTIVES: The COVID-19 disease has an incredible impact on both hospital-based and private practices in the field of otorhinolaryngology and head and neck surgery. Practical issues faced by both types of practices have not been well addressed in most studies. A national survey was conducted in April 2020 to identify the challenges faced by otorhinolaryngologists practicing in the Czech Republic. DESIGN: Prospective questionnaire-based study SETTING: Online Google questionnaire sent to the members of the Czech Society of Otorhinolaryngology and Head and Neck Surgery PARTICIPANTS: All doctors practicing Otorhinolaryngology in the Czech Republic with access to the online questionnaire between 15th and 26th April 2020. MAIN OUTCOME MEASURES: The primary aims of the study were to evaluate any significant differences between the two types of practice in the field of Otorhinolaryngology. We formulated null hypotheses stating there were no statistical differences in the preparation and availability of personal protective equipment amongst both practices a month after the first case of COVID-19 in the Czech Republic. Statistical analyses including the Mann-Whitney U test were performed to test the hypotheses. RESULTS: Analysis and results were based on the completion of the entire questionnaire by the doctors. There were no statistically significant differences between both the practices; however, individual analyses of both the practices showed a different outcome. CONCLUSION: Despite our statistical results, it was observed that private practices faced more deficits and were more financially vulnerable. They were also other issues reported by both practices that could compromise the care of patients, functioning of workplaces and support of doctors.
- MeSH
- COVID-19 * MeSH
- lidé MeSH
- nemocnice MeSH
- otorinolaryngologie * MeSH
- prospektivní studie MeSH
- SARS-CoV-2 MeSH
- soukromá praxe MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: The SARS-COV-2 virus has more than just an infectious role to play in the society. The rapid spread has also led to significant personal, professional, financial and economic recession globally. Health care professionals are getting seriously compromised due to these issues. No published data are available on the indirect effects of COVID-19 on high-risk medical specialties. Otorhinolaryngology is considered as one such specialty. Hence, we designed a national survey to address these issues. MATERIALS AND METHODS: A google questionnaire was sent to all the otorhinolaryngologists in Czech Republic with the help of the Czech Society of Otorhinolaryngology and Head and Neck Surgery to evaluate the problems they encountered during the first wave of COVID-19. Personal, professional and financial losses were also addressed. Online access to the survey was from 15th April 2020 to 26th April 2020. RESULTS: The psychosomatic indirect impact of the disease affected female doctors than males. Burnout syndrome was the most commonly reported problem. Around 44.75% of all doctors had a combination of health, financial and economic as well as professional development and educational issues. Doctors from private practices faced higher financial losses. CONCLUSIONS: Our study showed that personal, professional and financial disturbances amongst doctors can lead to more serious consequences. With the lack of drastic measures in improving the support system for healthcare workers, the healthcare systems will fail quickly. Adequate support should be made mandatory by health authorities.
- MeSH
- chirurgové * MeSH
- COVID-19 * MeSH
- lidé MeSH
- otorinolaryngologie * MeSH
- SARS-CoV-2 MeSH
- zdravotnický personál MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Head and neck paragangliomas Paragangliomas and pheochromocytomas are rare, mostly benign neuroendocrine tumors, which are embryologically derived from neural crest cells of the autonomic nervous system. Paragangliomas are essentially the extra-adrenal counterparts of pheochromocytomas. As such this family of tumors can be subdivided into head and neck paragangliomas, pheochromocytomas and thoracic and abdominal extra-adrenal paragangliomas. Ten out of fifteen genes that contribute to the development of paragangliomas are more susceptible to the development of head and neck paragangliomas when mutated. Gene expression profiling revealed that pheochromocytomas and paragangliomas can be classified into two main clusters (C1 and C2) based on transcriptomes. These groups were defined according to their mutational status and as such strongly associated with specific tumorigenic pathways. The influence of the main genetic drivers on the somatic molecular phenotype was shown by DNA methylation and miRNA profiling. Certain subunits of succinate dehydrogenase (SDHx), von Hippel-Lindau (VHL) and transmembrane protein 127 (TMEM127) still have the highest impact on development of head and neck paragangliomas. The link between RAS proteins and the formation of pheochromocytoma and paragangliomas is clear due to the effect of receptor tyrosine-protein kinase (RET) and neurofibromatosis type 1 (NF1) in RAS signaling and recent discovery of the role of HRAS. The functions of MYC-associated factor X (MAX) and prolyl hydroxylase 2 (PHD2) mutations in the contribution to the pathogenesis of paragangliomas still remain unclear. Ongoing studies give us insight into the incidence of germline and somatic mutations, thus offering guidelines to early detection. Furthermore, these also show the risk of mistakenly assuming sporadic cases in the absence of definitive family history in head and neck paragangliomas.
- MeSH
- lidé MeSH
- mutace MeSH
- nádory hlavy a krku * genetika MeSH
- paragangliom * genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
