Paragangliomas and syringomyelia in Tetralogy of Fallot-A case report and literature review.

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.

High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas.

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.

The COVID-19 frontiers - sink or swim.

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.

Changes on chromosome 11p15.5 as specific marker for embryonal rhabdomyosarcoma?

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).

Quality of life in CRSwNP: evaluation of ACCESS and Lund-Mackay computed tomography scores versus the QoL questionnaire.

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.

Not Just a 'Breath of Death': Indirect Consequences of Working in a COVID-19 Unit.

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.

Genetic Variants in Patients with Multiple Head and Neck Paragangliomas: Dilemma in Management.

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.

Otorhinolaryngology in the COVID-19 era: Are there significant differences between hospital-based and private practices?

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.

Extremely wicked, shockingly evil and undoubtedly COVID-19: the silent serial killer.

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.

Head and Neck Paragangliomas in the Czech Republic: Management at the Otorhinolaryngology Department.

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.

Face to face with COVID-19: highlights of challenges encountered in various ENT practices across the Czech Republic (a national survey).

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.

Lymph node metastasis of parotid gland high-grade adenoid-cystic carcinoma.

Adenoid cystic carcinoma (ACC) is one of the most common salivary gland malignancies. In rare cases, ACC undergoes high-grade transformation, which is associated with poor prognosis, in contrast to relatively long survival in the conventional ACC. Conventional ACC is characterized by typical histopathology showing glandular arrangement with sharply demarcated lumina, the tumor cells have sparse cytoplasm and angulated hyperchromatic nuclei. ACCs undergoing high-grade transformation lack these morphological features. In this paper we present a case of 46 years old female patient presenting with locally advanced tumor of the parotid gland and neck lymphadenopathy, coming for surgery. A suspect lymph node was sent to freeze section histology. Large non-cohesive cells with vesicular nuclei and prominent nucleoli along with well persevered lymph node architecture were seen in the frozen slide. This finding lead to suspicion of a lymphoma, the surgery finished in the extent of superficial parotidectomy and selective neck dissection of regions II-IV. Subsequent histopathological examination of formalin-fixed lymph node proofed epithelial nature of the atypical cells by p63 positivity. In the parotid gland resection specimen, an ACC with high-grade component was indentified. The high-grade ACC shared cell morphology with the lymph node metastasis. 17 from 20 lymph neck nodes contained metastases of high-grade ACC. Interestingly, there was strong CD117 expression in the high-grade ACC, whereas the conventional part was fully negative. To the best of our knowledge, the high-grade ACC of the parotid gland was reported only in 10 cases in the medical literature.

Total and Unilateral Peak Nasal Inspiratory Flow and Unilateral Visual Analogue Scale: Rationale in Indication and Outcomes of Septoplasty?

Septoplasty is one of the most frequently performed procedures in otorhinolaryngology. Proper selection of patients for septoplasty as well as examination is essential for good outcome of surgery. The aim of this study was to evaluate the suitability of combination of 2 simple, cheap, and easily performed examinations for indication and outcomes of septoplasty to evaluate the effectiveness in this type of surgery. Seventy patients were enrolled from 2 tertiary centers from the period of April 2017 to March 2018, who all underwent septoplasty for nasal septal deviation. Total and unilateral peak nasal inspiratory flow (PNIF), unilateral visual analogue scale, and nasal endoscopy for indication and outcomes of septoplasty were performed. Furthermore, assessment of possible correlation between subjective and objective data before and 3 months after septoplasty was done. Statistical analysis was carried out on the obtained data. Postoperatively the total and both unilateral PNIF measurements increased significantly compared with corresponding preoperative values and similarly means of visual analogue scale scores on both sides decreased 3 months after the procedure. No significant correlation was seen between objective and subjective outcomes neither before the surgery, nor postoperatively. The study confirmed the suitability of using PNIF as a simple and inexpensive tool that can be a reasonable alternative to rhinomanometry and which is able to reflect changes after septoplasty. Simultaneously, along with the expected improvement in the total PNIF and unilateral PNIF on deviated side, a slight but significant improvement in PNIF values on the nondeviated side was also demonstrated.

Syndromes that predispose to epistaxis.

PURPOSE: Our aim was to evaluate if epistaxis is directly associated with the etiology or pathophysiological mechanism which results in the syndrome itself or arises as a secondary effect. METHODS: We performed an extensive literature review of the web-based PubMed database from the National Library of Medicine to ascertain syndromes related to this condition. Etiology, pathophysiological mechanisms, occurrence, clinical features and management were noted for each of these syndromes. RESULTS: Epistaxis is commonly seen in syndromes that are usually directly related to vascular abnormalities or coagulation defects. However, in some cases, it is not. DISCUSSION AND CONCLUSION: Since a number of these syndromes are rare and elaborate tests are not carried out in the absence of a positive family history or until other specific clinical features appear, a risk of underdiagnosis and the dilemma of whether epistaxis is specifically related to the syndrome or a secondary effect still remains.

Gait festination in parkinsonism: introduction of two phenotypes.

Gait festination is one of the most characteristic gait disturbances in patients with Parkinson's disease or atypical parkinsonism. Although festination is common and disabling, it has received little attention in the literature, and different definitions exist. Here, we argue that there are actually two phenotypes of festination. The first phenotype entails a primary locomotion disturbance, due to the so-called sequence effect: a progressive shortening of step length, accompanied by a compensatory increase in cadence. This phenotype strongly relates to freezing of gait with alternating trembling of the leg. The second phenotype results from a postural control problem (forward leaning of the trunk) combined with a balance control deficit (inappropriately small balance-correcting steps). In this viewpoint, we elaborate on the possible pathophysiological substrate of these two phenotypes of festination and discuss their management in daily clinical practice.

Osteoarthrosis of Temporomandibular Joint Related to the Defects of Posterior Dentition: A Retrospective Study.

Osteoarthrosis (OA) of temporomandibular joint (TMJ) is a progressive degenerative disease, gradually affecting cartilage, synovial membrane and bone structures. OA of TMJ clinically manifests with joint noises, pain and restricted mouth opening. In late stages, it results in severe damage of TMJ structures and development of ankylosis. Osteoarthrosis is a multifactorial disease; the occurrence is associated with TMJ overloading. The cohort included 619 patients [538 women (87%) and 81 men (13%), with average age 40.6 years (age range 8-89 years)] with TMJ disorder, who were examined in the year 2014 in Department of Dental Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic. The aim of this retrospective study was to analyse, if the lack of posterior teeth (supporting teeth zones) is the main etiologic factor of osteoarthrosis of TMJ. Diagnosis of OA was established on the clinical signs and the panoramic X-ray signs. Simultaneously other etiologic factors of OA were assessed. The presence of OA changes on X-ray had 171 patients (i.e. 27.6% of the total number of 619). 17.5% from these patients with OA had defect in posterior dentition. Other aetiological factors (stress, skeletal or vertebrogenous disorders) showed higher incidence of OA changes on X-ray. Defect of posterior dentition is not negligible, but it is not the main aetiological factor for osteoarthrosis of TMJ.