scholarly journals Case Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family With Hereditary Pheochromocytoma Associated With a MAX Deleterious Variant

2021 ◽  
Vol 12 ◽  
Author(s):  
Diana Borges Duarte ◽  
Lia Ferreira ◽  
Ana P. Santos ◽  
Cláudia Costa ◽  
Jorge Lima ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Age At Onset ◽  
Case Series ◽  
Bilateral Pheochromocytoma ◽  
First Case ◽  
Deleterious Variant ◽  
The One ◽  
Hereditary Pheochromocytoma ◽  
The Impact ◽  
Number Of Individuals

IntroductionPheochromocytomas are rare catecholamine-producing neuroendocrine tumours arising from chromaffin cells of the adrenal medulla or extra-adrenal sympathetic paraganglia. Recent studies have indicated that up to 40% of pheochromocytomas could be attributable to an inherited germline variant in an increasing list of susceptibility genes. Germline variants of the MYC-associated factor (MAX) gene have been associated with familial pheochromocytomas and paragangliomas with an autosomal dominant pattern of inheritance, a median age at onset of 33 years and an overall frequency estimated at 1.9%. We describe a deleterious MAX variant associated with hereditary pheochromocytoma in a family with four affected individuals.Case presentationThe first patient presented with bilateral pheochromocytoma in 1995; genetic testing was proposed to his oldest son, when he was diagnosed with a bilateral pheochromocytoma with a synchronous neuroblastoma. Upon the identification of the MAX variant c.97C>T, p.(Arg33Ter), in the latter individual, his two siblings and their father were tested and the same variant was identified in all of them. Both siblings were subsequently diagnosed with pheochromocytoma (one of them bilateral) and choose to remain on active surveillance before they were submitted to adrenalectomy. All the tumours secreted predominantly norepinephrine, accordingly to the typical biochemical phenotype ascribed to variants in the MAX gene.ConclusionThis case series is, to our knowledge, the one with the largest number of individuals with hereditary pheochromocytoma with a deleterious MAX variant in the same family. It is also the first case with a synchronous pheochromocytoma and neuroblastoma in carriers of a MAX deleterious variant. This report draws attention to some ill-defined features of pheochromocytoma and other malignancies associated with a MAX variant and highlights the importance of understanding the genotype-phenotype correlation in hereditary pheochromocytoma and the impact of oriented genetic testing to detect, survey and treat patients and kindreds at risk.

scholarly journals Case series of coronavirus (SARS-CoV-2) in a military recruit school: clinical, sanitary and logistical implications

2020 ◽  
pp. bmjmilitary-2020-001482 ◽  
Author(s):  
Sascha J Baettig ◽  
A Parini ◽  
I Cardona ◽  
G B Morand
Keyword(s):  
Close Contact ◽  
Case Series ◽  
Armed Forces ◽  
Index Patient ◽  
Confined Space ◽  
Serological Testing ◽  
Military Recruit ◽  
First Case ◽  
Asymptomatic Patients ◽  
The Impact

IntroductionA new coronavirus, called Severe Acute Respiratory Syndrome-CoronaVirus-2 (SARS-CoV-2), has emerged from China in late 2019 and has now caused a worldwide pandemic. The impact of COVID-19 has not been described so far in a military setting. We therefore report a case series of infected patients in a recruit school in Switzerland and the herein associated challenges.MethodsRetrospective review of COVID-19 cases among Swiss Armed Forces recruits in the early weeks of SARS-CoV-2 pandemic in the canton of Ticino, the southernmost canton of Switzerland. Positive cases were defined with two positive PCR testing for SARS-CoV-2 from nasopharyngeal swabs. Serological testing was performed with a commercially available kit according to manufacturers’ instructions.ResultsThe first case was likely contaminated while skiing during weekend permission. He became symptomatic 4 days later, tested positive for SARS-CoV-2 and was put into isolation. He showed complete symptom resolution after 48 hours. Quarantine was ordered for all recruits with close contact in the past 2 days, a total of 55 persons out of 140 in the company. Seven out of nine recruits in one particular quarantine room became mildly symptomatic. SARS-CoV-2 PCR was positive in one of them. Seven days after initial diagnosis, the index patient and the other one from the quarantine retested positive for SARS-CoV-2, although they had been completely asymptomatic for over 96 hours. Serological testing revealed positive for both patients. All others showed negative IgM and IgG.ConclusionsYoung healthy recruits often showed a mild course of COVID-19 with rapid symptom decline but were persistent SARS-CoV-2 carriers. This illustrates how asymptomatic patients may be responsible for covert viral transmission. An early and prolonged establishment of isolation and quarantine for patients and close contacts is essential to slow down the spread of SARS-CoV-2, especially in the confined space of a military environment.

scholarly journals Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?

2009 ◽  
Vol 160 (2) ◽  
pp. 227-231 ◽  
Author(s):  
Pascal Pigny ◽  
Catherine Cardot-Bauters ◽  
Christine Do Cao ◽  
Marie Christine Vantyghem ◽  
Bruno Carnaille ◽  
...  
Keyword(s):  
Family History ◽  
Genetic Screening ◽  
Age Of Onset ◽  
Age At Onset ◽  
Hereditary Disease ◽  
Imaging Features ◽  
Systematic Screening ◽  
Bilateral Pheochromocytoma ◽  
Sporadic Pheochromocytoma ◽  
Hereditary Pheochromocytoma

BackgroundAccording to previous studies, around 15% of patients with an apparently sporadic pheochromocytoma and a negative family history had a hereditary disease. This high frequency together with the financial support provided to reference laboratories of molecular genetics by the French government led to a nearly systematic screening in each patient with a pheochromocytoma.ObjectiveTo check the efficiency of systematic genetic screening in patients with apparently sporadic pheochromocytoma, by analysing the 6 years experience of a multidisciplinary team in this field.MethodsOne hundred patients with a pheochromocytoma-only phenotype and no family history were included. Patients with extra-adrenal tumours were excluded. Prevalence of hereditary forms was determined and analyzed according to age at onset, sex. Cost of the genetic analysis was calculated.ResultsA germline mutation in one of the five susceptibility genes (VHL, RET, SDHD, SDHC, SDHB) was identified in eight patients (8%) with an age of onset between 13 and 57 years. Among them, six had a bilateral pheochromocytoma and only two had a unilateral tumour. If the guidelines for genetic screening were age of onset less than 50 or bilateral pheochromocytoma, no patients with a hereditary tumour would be missed and a 24% cost reduction would be achieved.ConclusionsAccording to these data, a genetic predisposition test for hereditary pheochromocytoma seems not recommended in patients with a unilateral adrenal tumour diagnosed after 50 in the absence of familial, clinical, biological or imaging features for a familial disease.

scholarly journals Impact of Basalt Filler and Ceramizable Additives on the Toxicity of Gaseous Products Emitted from Thermal Decomposition of Silicone Rubber Composites

Materials ◽  
2019 ◽  
Vol 12 (21) ◽  
pp. 3478
Author(s):  
Przemysław Rybiński ◽  
Bartłomiej Syrek ◽  
Witold Żukowski ◽  
Dariusz Bradło
Keyword(s):  
Thermal Decomposition ◽  
Silicone Rubber ◽  
Fluidised Bed ◽  
Rubber Composites ◽  
Gaseous Products ◽  
First Case ◽  
The One ◽  
Index Value ◽  
Fluidised Bed Reactor ◽  
The Impact

The article illustrates the impact of basalt filler in the form of flakes and fibres on the toxicity of gaseous products that formed during the thermal decomposition of silicone rubber composites. The values of specific emissions of gases were determined with the help of the IR spectroscopy and further applied to calculate the toxicometric index. The presented method of measuring the concentrations of gaseous products resulting from thermal decomposition consists in the application of a fluidised bed reactor, which makes it possible to conduct the decomposition of a sample at a precisely assumed temperature value and imitate the conditions of a real fire. At a temperature lower than 700 °C, the gases resulting from the thermal decomposition of composites are particularly toxic due to the presence of significant concentrations of formaldehyde that does not undergo oxidation to more stable inorganic products. At a temperature of 600 °C the toxicity of gases for the samples with ceramizable additives and without them was similar. In the first case, there appeared to be a positive synergistic effect of mineral and basalt additives, and the basalt additives themselves increased the toxicity of gases. At higher temperatures of decomposition, the exponentially increasing rate of the oxidation reaction in the gaseous phase results in the lack of significant differences between the toxicity of gases for the samples with and without basalt additives. The toxicometric index value at temperatures of 700 °C and 800 °C was by one or two orders of magnitude higher, respectively, than the one that was observed in the temperature range of 500–600 °C, as inorganic components appear in the place of formaldehyde.

Multiple sclerosis in China—history and future

2009 ◽  
Vol 15 (6) ◽  
pp. 655-660 ◽  
Author(s):  
Q Cheng ◽  
X-J Cheng ◽  
G-X Jiang
Keyword(s):  
Multiple Sclerosis ◽  
Clinical Symptoms ◽  
English Literature ◽  
Age At Onset ◽  
Case Series ◽  
Epidemiological Studies ◽  
Population Based ◽  
Chinese Patients ◽  
National Surveillance ◽  
First Case

Background Multiple sclerosis (MS) is considered rare in China and reports on MS in the English literature are few. Methods A systematic literature search for articles with MS was made, particularly for papers published in the Chinese medical journals from mainland China. Results In China, the first case of MS was described in the medical records from Xiehe hospital in 1926, and the first autopsy case of MS was reported from Huashan hospital in 1957. Although reports on MS based on the information from hospital case-series have been increased gradually in the recent decades, there is no national surveillance on MS frequency in the population and population-based surveys on MS were few in China. Generally for Chinese patients with MS the mean age at onset of MS is around 30 years, with a few cases younger than 20 years; the most frequent site of the lesions in the central nervous system, based on the clinical symptoms or signs, is the spinal cord (usually more than 60%); there are few patients with a family history of MS; almost all patients are treated with corticosteroids. Reported prevalence rates of MS from population surveys in China are rather low (1–2 per 100,000) and higher in females than in males, which are comparable with the results from other populations in Asia. Conclusion The clinical and epidemiological aspects of MS in China are, in general, similar to that from other populations in Asia. Epidemiological studies and national surveillance on MS are required in China.

scholarly journals Disease Progression and Obstetric Outcomes of Women with Multiple Sclerosis at a Reference Center in Northeastern Brazil

2021 ◽  
Vol 43 (03) ◽  
pp. 165-171
Author(s):  
Gabrielle Maria Carvalho de Barros ◽  
Bianca Etelvina Santos de Oliveira ◽  
Gabriela Januário Oliveira ◽  
Rômulo Kunrath Pinto Silva ◽  
Thiago Nóbrega Cardoso ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Postpartum Period ◽  
Case Series ◽  
Northeastern Brazil ◽  
Obstetric Outcomes ◽  
First Year ◽  
Gestational Period ◽  
Case Series Study ◽  
The One ◽  
The Impact

Abstract Objective To describe the obstetric outcomes of patients with multiple sclerosis (MS) and the impact of pregnancy and the postpartum period on the progression of the disease. Methods A case series study performed between December 2019 and February 2020, reporting pregnancies occurred between 1996 and 2019. The subjects included were women with MS undergoing follow-up at an MS referral center in Northeastern Brazil, and who had at least one pregnancy after the onset of MS symptoms, or who had their first relapse in the first year after delivery. Results In total, 26 women and 38 pregnancies were analyzed – 32 of them resulted in delivery, and the remaining 6, in miscarriages. There was a significant increase in the prevalence of relapse during the postpartum period when compared with the gestational period. In 16 (42.1%) of the pregnancies, there was exposure to disease-modifying therapies (DMTs) – 14 (36.8%), to interferon β, and 2 (5.3%), to fingolimod. Higher rates of abortion, prematurity and low birth weight were reported in the group was exposed to DMT when compared with the one who was not. Conclusion In the sample of the present study, there was a significant increase in the rate of MS relapse during the postpartum period when compared with the gestational period. Additionally, it seems that exposure to DMTs during pregnancy may affect the obstetric outcomes of the patients.

scholarly journals 512 The Management of Aural Foreign Bodies During the COVID-19 Pandemic - MKUH ENT Department Experience

2021 ◽  
Vol 108 (Supplement_6) ◽  
Author(s):  
G C Ho ◽  
R Thind ◽  
D Yap ◽  
A Hunt
Keyword(s):  
Foreign Body ◽  
Foreign Bodies ◽  
Case Series ◽  
Success Rates ◽  
First Case ◽  
Prolonged Duration ◽  
Successful Removal ◽  
The Impact ◽  
The Relationship

Abstract Aim During the initial wave of the COVID-19 pandemic, ENT UK published a clinical guide on surgical prioritisation which suggested that aural foreign bodies can be removed between one and three months from initial presentation. This case series aims to investigate the impact of leaving aural foreign bodies in situ for a prolonged period of time, including the risk of complications, success rates of subsequent removal attempts and whether foreign bodies can clear themselves without intervention. Method Retrospective study of all aural foreign body referrals to the ENT emergency clinic over a 6-month period. Results Thirty-four patients were identified. The duration of foreign bodies left in-situ ranged from 1 to 78 days. Four patients suffered from traumatic removal upon initial attempts, however there were no other significant complications. First attempts made by non-ENT specialists (68.8%) all failed and were associated with a high risk of trauma (36.4%). The chances of successful removal on second attempt (28.6%) reduced dramatically when compared to the first attempt (52.9%). Two patients had no foreign body visualised upon second attempt, suggesting it has cleared itself. A total of 7 patients (20.6%) required removal under general anaesthesia. Conclusions Due to the unique circumstances of the COVID-19 pandemic, this is the first case series to look specifically at the relationship between duration of aural foreign bodies left in situ for over 30 days from presentation and the risk of complications. Our data suggests that prolonged duration did not increase the incidence of complications.

Static and Dynamic Studies of Gasoline in View of its Octane Number and its Toxic Effect

2013 ◽  
Vol 12 (7) ◽  
pp. 451-459
Author(s):  
Ashraf Yehia El-Naggar ◽  
Mohamed A. Ebiad
Keyword(s):  
Toxic Effect ◽  
Aromatic Hydrocarbons ◽  
Octane Number ◽  
Liquid Fuel ◽  
Positive Impact ◽  
Hydrocarbon Composition ◽  
Different Temperatures ◽  
Different Seasons ◽  
The One ◽  
The Impact

Gasoline come primarily from petroleum cuts, it is the preferred liquid fuel in our lives. Two gasoline samples of octane numbers 91 and 95 from Saudi Arabia petrol stations were studied. This study was achieved at three different temperatures 20oC, 30oC and 50oC representing the change in temperatures of the different seasons of the year. Both the evaporated gases of light aromatic hydrocarbons (BTEX) of gasoline samples inside the tank were subjected to analyze qualitatively and quantitatively via capillary gas chromatography. The detailed hydrocarbon composition and the octane number of the studied gasoline samples were determined using detailed hydrocarbon analyzer. The idea of research is indicating the impact of light aromatic compounds in gasoline on the toxic effect of human and environment on the one hand, and on octane number of gasoline on the other hand. Although the value of octane number will be reduced but this will have a positive impact on the environment as a way to produce clean fuel.

The Development of Agritourism in the Podkarpackie Voivodeship in the Light of International and National Conditions

2017 ◽  
Vol 13 ◽  
pp. 244-261
Author(s):  
Mariola Tracz ◽  
Małgorzata Bajgier-Kowalska ◽  
Radosław Uliszak
Keyword(s):  
Development Strategy ◽  
Current State ◽  
Central Statistical ◽  
Central Statistical Office ◽  
Tourism Resources ◽  
The One ◽  
The Impact ◽  
District Offices ◽  
Socio Economic Factors

Podkarpackie Voivodeship is one of the regions of Poland in which the number of agritourism entities is very high. Therefore tourism plays a significant role in its development strategy. The aim of the paper is to identify the current state of agritourism and the changes that have occurred in the region in the years 2000–2016. Specific objectives are to determine the distribution of agritourism farms and their offer, together with a comprehensive analysis of the environmental and socio-economic factors, as well as the impact of the Slovak-Ukrainian border. The report was developed on the statistical materials from the Polish Central Statistical Office, Podkarpackie Agricultural Advisory Centre in Boguchwała and data collected from municipalities and district offices that is published on their websites, as well as through interviews with 100 owners of agritourism farms in the Podkarpackie Voivodeship. The research has shown, on the one hand, the decline in the number of farms in the region and, on the other hand, the increase in the diversity of the tourist offer of these entities. Distribution of agritourism farms is closely linked to the attractiveness of natural environment and quality of secondary tourism resources. Traditional agritourism has not yet fully used its countryside, as well as cross-border advantages of its location.

Burden of Congenital Rubella Syndrome (CRS) in Bangladesh: Systematic Review of Existing Literature and Transmission Modelling of Seroprevalence Studies

2020 ◽  
Vol 20 (3) ◽  
pp. 284-290
Author(s):  
Jocelyn Chan ◽  
Yue Wu ◽  
James Wood ◽  
Mohammad Muhit ◽  
Mohammed K. Mahmood ◽  
...  
Keyword(s):  
Systematic Review ◽  
Deterministic Model ◽  
Case Series ◽  
Controlled Vocabulary ◽  
Congenital Rubella Syndrome ◽  
Free Text ◽  
Childbearing Age ◽  
Vaccination Programs ◽  
Congenital Rubella ◽  
The Impact

Background and Objectives: Congenital Rubella Syndrome (CRS) is the leading cause of vaccine-preventable congenital anomalies. Comprehensive country-level data on the burden of CRS in low and middle-income countries, such as Bangladesh, are scarce. This information is essential for assessing the impact of rubella vaccination programs. We aim to systematically review the literature on the epidemiology of CRS and estimate the burden of CRS in Bangladesh. Methods: We conducted a systematic review of existing literature and transmission modelling of seroprevalence studies to estimate the pre-vaccine period burden of CRS in Bangladesh. OVID Medline (1948 – 23 November 2016) and OVID EMBASE (1974 – 23 November 2016) were searched using a combination of the database-specific controlled vocabulary and free text terms. We used an age-stratified deterministic model to estimate the pre-vaccination burden of CRS in Bangladesh. Findings: Ten articles were identified, published between 2000 and 2014, including seven crosssectional studies, two case series and one analytical case-control study. Rubella seropositivity ranged from 47.0% to 86.0% among all age population. Rubella sero–positivity increased with age. Rubella seropositivity among women of childbearing age was 81.0% overall. The estimated incidence of CRS was 0·99 per 1,000 live births, which corresponds to approximately 3,292 CRS cases annually in Bangladesh. Conclusion: The estimated burden of CRS in Bangladesh during the pre-vaccination period was high. This will provide important baseline information to assess the impact and cost-effectiveness of routine rubella immunisation, introduced in 2012 in Bangladesh.

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