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The Sickle Cell Society have issued standards for additional immunisations that adults with sickle cell disease (SCD) require. These include annual influenza, 5-yearly pneumococcal conjugate vaccine (PPV23) and Hepatitis B vaccination. Patients who have not received their primary vaccination as part of the national schedule in the UK should also receive further additional vaccines. We reviewed whether adults with SCD in South Wales currently receive these. 49 adult patients were identified as having SCD under the care of the Hereditary Anaemia Service based in the University Hospital of Wales, Cardiff. GP records were not available for 5 patients leaving a final cohort of 44 patients to analyse. Average age was 33 years (range 17-67). Median age was 27 with the cohort predominantly lying in the 17-29 year category (52%). Results showed good compliance with the annual influenza vaccine in those over 40 (>80%). However, compliance for the 17-29 category and 30-39 categories were 37.5% and 42.8%, respectively. The improved compliance in those >40 was not seen with the 5-yearly pneumococcal vaccine. Compliance was worse in all age groups compared to the annual flu vaccine with only 23% compliance overall. However, when looking at those who had received a single dose of PPV23, the numbers improved to nearly 60%. Compliance with the SARS-CoV2 vaccination was highest at 61.3%. However, rates were lower in the 17-29 and 30-39 age groups in keeping with previous trends. Only 34.1% of patients had full hepatitis B cover. Again, trends in compliance mirrored previous with poorer rates in those under 40. Assessing compliance for the remainder of the standards was more challenging given that we could not confirm retrospectively how many of our cohort had received their primary vaccinations in other parts of the UK, thought to be around half. However, most of the cohort had not received any additional vaccines suggesting high non-compliance regardless. This review looked at data from 2020 and likely reflects the impact of the SARS-CoV2, whether positive or negative. The reduced compliance in 5-yearly pneumococcal compared to flu suggest better health-professional education is needed;if patients are attending for their annual flu vaccine, there is ample opportunity to administer other vaccines. The vaccination rate for our patient group is comparable to national rates by ethnicity although lower than the national average for age. Vaccination rates for the SCD population of South Wales are not adequate. Better education and engagement is needed.
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Introduction: Croatian National Cancer Registry of Croatian Institute for Public Health reported that in year 2020 lung cancer was the second most common cancer site diagnosed in men with 16% and the third most common in women with 10% incidence among all cancer sites. Unfortunatelly lung cancer has the highest mortality in both men and women. Haematological malignancies had 7% share in all malignancies in both male and female cances cases. In 2020 190 newly diagnosed cases of lymphatic leukemia in men and 128 cases in women were reporeted, meaning 1.5 and 1.2% of all malignancies, respectively. Chronic lymphatic leukemia (CLL) is an advanced age disease and incidence increases with age. Impaired immunity, T and B cell dysfunction in CLL, chromosomal aberations, long-term immunosuppressive therapy and genetic factors can all cause secondary malignancies. Co- occurence of solid tumors and CLL is very rare. Although patiens with CLL have an increased risk of developing second primary malignancies including lung carcinoma, the data about their clinical outcomes are lacking. Parekh et al. retrospectively analyzed patients with simultaneous CLL and lung carcinoma over a 20-year period, and they found that ~2% of patients with CLL actually developed lung carcinoma. The authors claimed that up to 38% of patients will also develop a third neoplasm more likely of the skin (melanoma and basal cell carcinoma), larynx (laryngeal carcinoma) or colon. Currently there are no specific guidelines for concurrent CLL and non-small cell lung carcinoma (NSCLC) treatment. Usually, when the tumors are diagnosed simultaneously, treatment is based to target the most aggressive malignancy, as the clinical outcomes depend on the response of the tumor with the poorest prognosis. For this reason, a multidisciplinary approach is mandatory. Case report: A patient with history of coronary heart disease, myocardial infarction and paroxysmal atrial fibrillation was diagnosed in 2019 (at the age of 71) with B chronic lymphocytic leukemia with bulky tumor (inguinal lymph nodes 8x5 cm), stage B according to Binet, intermediate risk. He was treated with 6 cycles of chemoimmunotherapy (rituximab/cyclofosfamid/fludarabine). In 10/2019 remission was confirmed, but MSCT described tumor in the posterior segment of upper right lung lobe measuring 20x17 mm and bilateral metastases up to 11 mm. Bronchoscopy and biopsy were performed, and EGFR neg, ALK neg, ROS 1 neg, PD-L1>50% adenocarcinoma was confirmed. He was referred to Clinical Hospital Center Osijek where monotherapy with pembrolizumab in a standard dose of 200 mg intravenously was started in 01/2020. Partial remission was confirmed in October 2020. Immunotherapy was discontinued due to development of pneumonitis, dysphagia and severe weight loss (20kg), but without radiologically confirmed disease progression. At that time he was referred to our hospital for further treatment. Gastroscopy has shown erosive gastritis with active duodenal ulcus, Forrest III. Supportive therapy and proton pump inhibitor were introduced. After complete regression of pneumonitis, improvement of general condition and resolution of dysphagia, no signs of lung cancer progression were found and pembrolizumab was reintroduced in 12/2021. Hypothyroidism was diagnosed in 01/2021 and levothyroxine replacement ther apy was started. In 03/2021 he underwent surgical removal of basal cell carcinoma of skin on the right temporal region with lobe reconstruction. From 02/2021, when pembrolizumab was reintroduced, regression in tumor size was continously confirmed with complete recovery of general condition. He was hospitalized for COVID 19 infection in 09/2021, and due to complications pembrolizumab was discontinued till 11/2021. Lung cancer immunotherapy proceeded till 11/2022, when Multidisciplinary team decided to finish pembrolizumab because of CLL relapse. CLL was in remission till August 2022 when due to B symptoms, lymphcytosis, anemia and generalized lymphadenopathy, hematological workup including biopsy of cervical lymph node was performed and CLL/SLL relapse was confirmed. Initially chlorambucil was introduced, but disease was refractory. Based on cytogenetic test results (IGHV unmutated, negative TP53) and due to cardiovascular comorbidity (contraindication for BTK inhibitors) venetoclax and rituximab were started in 01/2023. After just 1 cycle of treatment normal blood count as well as regression of B symptoms and peripheral lymphadenopathy occured, indicating the probability of complete disease remission. In our patient with metastatic lung adenocarcinoma excellent disease control is achieved during 41 month of treatment in first line setting. Furthermore, relapsed/refractory CLL/SLL is currently in confirmed remission. Conclusion(s): Successful treatment of patients with multiple primary malignancies is based on multidisciplinarity, early recognition and management of side effects, treatment of comorbidities with the aim of prolonging life, controlling symptoms of disease and preserving quality of life.
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The incidence of new coronavirus infection (COVID-19) varies significantly between countries and continents. Until now, there has been no clear explanation for this observation. Epidemiological studies have demonstrated a large difference in infection and mortality rates between men and women. This may be due to the gender difference in the polymorphism of genes linked to the X chromosome, which play an important role in the immune response. In addition, there is a different degree of severity of the disease: from an asymptomatic course and mild symptoms to a life-threatening condition requiring hospitalization in the intensive care unit and artificial lung ventilation. Several factors are associated with the severity of COVID-19, such as elderly age, multiple comorbid diseases, smoking, hypercholesterolemia, etc. However, we observe that severe disease is also observed in patients who do not have the above risk factors. In recent months, severe forms of COVID-19 have been reported in children, including early infancy. In this connection, it is relevant, in our opinion, to focus the problem on genetic factors, such as the carriage of single-nucleotide polymorphisms, which can affect susceptibility to infection and variability in the severity of the disease.Copyright © 2022 Sorbtsionnye i Khromatograficheskie Protsessy. All rights reserved.
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Background: The pathophysiology of viral-infections is highly complex and involves host immunocompetence, host genetics, and gene-environment interactions. We hypothesized that polymorphic variants in host genes, blood group and previous vaccination status against H1N1 may affect the clinical course of covid-19 infection. Method(s): A total of 202 subjects who were RT-PCR negative after Covid-19 infection were recruited. We investigated association between Covid-19 infection (Severity and recovery period) and multiple factors including ABO and Rh blood groups, H1N1 vaccination, polymorphism in Viral susceptibility genes (ACE2 G8790A), and polymorphism in host response genes (ACE I/D rs4646994, IL6- 174G/C, GSTT1/GSTM1 I/D and GSTP1 Ile 105 Val). Result(s): B-ve and O-ve ABO and Rh blood groups had significantly higher Covid-19 recovery period applied on one-vs.-all in a nonparametric t-test (p<0.05). Subjects who had vaccinated themselves against H1N1 presented with a lower recovery-period (p<0.05). Both variables (blood group and H1N1 vaccination) were not however associated with Covid-19 severity. Out of the studied polymorphisms, ACE2 G8790A and GSTT1/GSTM1 were significantly associated with covid-19 infection. Our results indicated that G/G genotype of ACE2 G8790A (OR 3.52, P 0.007) and GSTT1/ GSTM1 null (M1 - / - OR = 3.98, P = 0.0004;T1 - / - OR 3.84, P = 0.004) and double null (M1 - / - /T1 - / - OR = 9.66, P = 0.001) are likely to be associated with an increased risk for severe-critical outcomes in individuals with COVID-19. Other polymorphisms analyzed in this study were found to have no significant association with Covid-19 outcome. Conclusion(s): This study suggests that outcome of Covid-19 infection is affected by both clinical and genetic factors. Thus it seems plausible to utilize these factors as prediction and susceptibility markers in the prognosis of COVID-19, which may help to personalize the treatment.
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Background: Hereditary (HAE-C1- INH) and acquired (AAE C1-INH) angioedema with C1 inhibitor (C1 INH) deficiency are rare but potentially life-threatening conditions associated with bradykinin overproduction and recurrent episodes of angioedema without wheals. Increased susceptibility to infections or infection-associated fatal outcomes has not been previously described in this condition. However, in 2020 novel theories suggesting bradykinin as a potential mediator involved in lung injury in COVID-19 disease have been proposed. Therefore, a more severe course of COVID-19 infection in C1 INH deficient should be considered. Method(s): In September 2021, we performed a retrospective analysis of COVID-19 disease courses in HAE C1-INH and AAE C1-INH patients from Czech referral centers for the treatment of hereditary angioedema with C1 INH deficiency. Collected data involved basic demography, comorbidities, previous immunosuppressive treatment, COVID-19 symptoms and treatment, HAE symptoms during infection. Result(s): We identified 17 patients (10 females, 7 males) with C1 INH deficiency with COVID-19 positivity from March 2020 until September 2021 with median age of 45 years (10-80 years). Our cohort consisted of 16 HAE C1-INH patients (94%, HAE-1 15/ 16 -94%, HAE-2 1/16 -6%) and 1 AAE C1-INH patient (6%). Only 8 (47%) of the patients were receiving HAE prophylaxis. Most common comorbidity was obesity (4/17, 24%) followed by autoimmune disease (3/17, 18%), hypertension (3/17, 18%), immunodeficiency (3/ 17, 18%), prior immunosuppressive treatment (3/ 17, 18%) and malignancy (2/17, 12%). COVID-19 infection was asymptomatic in 3 of them (18%). Symptomatic patients reported most commonly fever (10/14, 67%), anosmia and ageusia (8/14, 53%) and headache (3/14, 20%). Only 2 symptomatic patients (14%) had pneumonia treated with antibiotics. None of our patients were treated with monoclonal antibodies or referred to the hospital. All the patients recovered. Two patients reported long-lasting symptoms more than 3 months after infection. Five patients (29%) experienced HAE attacks and in two of them, increased attack frequency lasted several weeks after recovery. Conclusion(s): According to our findings, we do not assume C1 INH deficiency to be a risk factor for a severe course of COVID-19 disease. However, as other infections, COVID-19 might trigger angioedema attacks and may cause increased attack frequency after recovery.
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Background: Contraceptives are an important component of women's reproductive health care, as they not only reduce the number of unwanted pregnancies, but also improve reproductive function. However, oral contraceptives are known to increase the risk of venous thromboembolism. This risk is increased by infection with the COVID-19 virus that predisposes patients to both venous and arterial thrombosis as a result of excessive inflammation, platelet activation, aggravated endothelial dysfunction, and congestive events. If these patients have hereditary thrombophilia, the risk of venous thromboembolism becomes fatal. Case report: The paper describes a clinical case of a patient with total portal vein thrombosis, who have been taking oral contraceptives for a long time and recovering from the novel coronavirus infection. Studying the blood coagulation system and folate cycle genes, by using PCR, has revealed a gene mutation in the plasminogen activator inhibitor (serpine). The authors demonstrate the data of spiral computed tomography of the abdominal organs, as well as changes in laboratory parameters. Conclusion(s): A balanced approach is required when prescribing combined oral contraceptives during the COVID-19 pandemic, especially in women with prothrombotic mutations.Copyright © A group of authors, 2023.
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Background: The pandemic of Coronavirus disease 19 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV- 2), has become a global challenge in the last two years. SARS-CoV- 2 enters the cells of the infected subjects through angiotensin converting enzyme 2 (ACE-2), leading to its depletion on cell surface. ACE-2 activity is involved in the catabolism of des-Arg( 9)-bradykinin and increases the expression of angiotensin converting enzyme (ACE) in animal models. ACE in turn inactivates bradykinin. The infection has therefore the potential to cause a deregulation of the contact system and its pro-inflammatory activity, which could also contribute to the pathogenesis of COVID-19. Since bradykinin-mediated angioedema is generally thought to be the result of a poorly regulated contact system, it has been speculated that these patients are prone to severe SARS-CoV- 2 infection and that COVID-19 can in turn elicit angioedema attacks. We examined these hypotheses in a large group of bradykinin-mediated angioedema patients. Method(s): W e c onducted a m ulticenter r etrospective s tudy t argeting all the patients with hereditary angioedema (HAE) or acquired angioedema due to C1 inhibitor deficiency followed up by the centers of the Italian Network for Hereditary and Acquired Angioedema (ITACA). All accessible patients underwent a telephone interview between January 1st and March 31st 2021;we collected data about demographic and angioedema features, the occurrence of SARS-CoV- 2 positivity and COVID-19 outcomes from the beginning of the pandemic until March 31st 2021. A digital diary of attacks developed by ITACA helped us to collect attacks data. 15 centers participated in the survey. Result(s): 677 patients were included;52/677 reported SARS-CoV- 2 positivity (48 with hereditary and 4 with acquired C1 inhibitor deficiency). The incidence was 7.68% (confidence interval 5,79-9,95%), similar to the general population (6.04%). 4/52 patients (7.7%) reported severe COVID-19;the median disease duration was 15 days. One patient suffered a pulmonary thromboembolism;no deaths were reported. 27/52 patients (51,9%) had angioedema attacks during the infection, with a median of 1 attack per patient;severity of COVID-19 predicted more frequent and more severe angioedema attacks in a multivariate analysis (p < 0.001). Conclusion(s): COVID-19 does not seem more severe in bradykinin-mediated angioedema than in the general population. SARS-CoV- 2 infection can elicit angioedema attacks.
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Background: Breast cancer accounts for 35-40% of cancer in women in Lebanese and Arab countries with 50% of patients (pts) diagnosed before age 50. Prevalence of pathogenic BRCA variants in high-risk pts is 5.6-20% (Abulkhair and El Saghir 2021). 7 BRCA1 and 7 BRCA2 pathogenic variants were found in 5.6% of 250 pts with high hereditary risk breast cancer using amplicon sequencing and MLPA (El Saghir 2015;Poulet 2016). We report results of Next Generation Sequencing (NGS) on selected cases based on Manchester Score. First report in ethnic Lebanese Arab pts. Method(s): Pts prospectively enrolled in 2009-2012. IRB approval secured. Pts signed informed consent. Data collected from medical records. Amplicon and MLPA was done on 250 patients. NGS was done on 100 cases with Manchester Score 14-56. DNAs of the 14 pts previously found to have a pathogenic variant (Manchester Score 10-59) were not re-sequenced. NGS on remaining 150 pts was not done due to Covid-19 pandemic and lack of additional funding. Result(s): NGS showed 7 pathogenic variants, 4 in PALB2 and 3 in ATM. No new BRCA variants were found. Two BRCA2 mutations noted by Amplicon/MLPA reported as VUS in 2015 are reclassified as pathogenic. Total BRCA2 pathogenic variants becomes 9. Total pathogenic variants 23. Risk of having hereditary breast cancer in pts with MS 10-59 is 20% (23/ 114), and at least 9.2% in the entire cohort (23/250). Age <=40 with family history (FH) carries 18.9% risk of harboring a pathogenic mutation while no FH, 1.4% (Table 1). All BRCA1 pts had triple negative and 7/9 BRCA2 pts had hormone receptor positive breast cancer. 4 unrelated pts shared the same c.1056_1057delGA PALB2 pathogenic variant thus we suggest this is a founder mutation in Lebanese Ethnic Arab population. Conclusion(s): Mutation rates in high hereditary risk pts with Manchester Score range 10-59 is 20%. Age <=40 with positive FH can be used to select pts for testing when resources are limited. Our data suggests that c.1056_1057delGA is a PALB2 founder mutation. No conflict of interest.Copyright © 2022 Elsevier Ltd. All rights reserved
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This article discusses the treatment of panic disorder in terms of cognitive behavioral psychotherapy. Panic disorder is one of the most common anxiety disorders. The etiology of panic disorder assumes the coexistence of genetic and environmental factors. Panic attacks often accompany other mental and somatic diseases. The constant feeling of intense anxiety with a number of somatic symptoms affects the deterioration of everyday functioning, significantly reducing one's quality of life. The global situation caused by SARS-CoV-2 may correlate with the increase in the incidence of panic disorder. The introduction of appropriate therapeutic interventions at the earliest possible stage of the disease gives patients a chance for long-term remission. So far, it has been proven that the best results of pharmacological treatment are achieved thanks to the antidepressant and benzodiazepine drug groups. One of the non-pharmacological interventions with the highest clinical effectiveness is cognitive-behavioral psychotherapy. Compared to other trends, cognitive- behavioral therapy is characterized by the most reliable research proving its high effectiveness. Psychotherapy of panic disorders in the cognitive-behavioral approach includes a complete conceptualization of the patient's problem, taking into account individual theoretical models. Treatment of panic attacks is based on a protocol which takes into account both cognitive and behavioral interventions, e.g. psychoeducation, cognitive restructuring, breathing training, relaxation exercises and both interoceptive and in vivo exposures. Research results indicate that this therapy is an alternative form of treatment for panic disorders. Sources indicate that the effectiveness of interventions based on cognitive-behavioral therapy is comparable to that of pharmacotherapy.Copyright © 2022 Termedia Publishing House Ltd.. All rights reserved.
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Diabetic foot disease is a severe invalidiza-ting complication of diabetes mellitus, which is associated with significant comorbidity, reduced life expectancy and quality of life of the affected person, and with several fold increased burden for health care system as well. It is the leading cause for non-traumatic lower limb amputations. According to its features, diabetic foot disease is a heterogeneous condition. In its pathogenesis are combined metabolic, hemodynamic, mechanical, infectious and genetic factors. There is no single evaluation scale for this diabetic complication, but are present different classifications, which account for neurological, vascular and structural damage, inflammatory state, concomitant diseases, previous ulcers and amputations. In this way, risk category of each patient is defined, which determines the therapeutical plan, the need for hospitalization, the prognosis and the follow-up interval. Due to its multifactorial aspects, diabetic foot disease is approached in interdisciplinary manner. Integrated foot care by highly skilled specialists in combination with structured patient education about self-care and self-monitoring, could reduce diabetic foot wounds with up to 85%. It is also estimated that in 85% of cases lower limb amputations among people withdiabetes are pre-ceded by ulcers, which highlights the significance of the aforementioned measures. During COVID-19 pandemic there are additional risks for worsening of people with diabetic foot. In conclusion, in most cases diabetic foot disease and its consequences are potentially preventable, which determines the paramount importance of revising and timely applying the latest guidelines on its diagnosis and management.Copyright © 2021 Medical Information Center. All rights reserved.
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Diabetic foot disease is a severe invalidiza-ting complication of diabetes mellitus, which is associated with significant comorbidity, reduced life expectancy and quality of life of the affected person, and with several fold increased burden for health care system as well. It is the leading cause for non-traumatic lower limb amputations. According to its features, diabetic foot disease is a heterogeneous condition. In its pathogenesis are combined metabolic, hemodynamic, mechanical, infectious and genetic factors. There is no single evaluation scale for this diabetic complication, but are present different classifications, which account for neurological, vascular and structural damage, inflammatory state, concomitant diseases, previous ulcers and amputations. In this way, risk category of each patient is defined, which determines the therapeutical plan, the need for hospitalization, the prognosis and the follow-up interval. Due to its multifactorial aspects, diabetic foot disease is approached in interdisciplinary manner. Integrated foot care by highly skilled specialists in combination with structured patient education about self-care and self-monitoring, could reduce diabetic foot wounds with up to 85%. It is also estimated that in 85% of cases lower limb amputations among people withdiabetes are pre-ceded by ulcers, which highlights the significance of the aforementioned measures. During COVID-19 pandemic there are additional risks for worsening of people with diabetic foot. In conclusion, in most cases diabetic foot disease and its consequences are potentially preventable, which determines the paramount importance of revising and timely applying the latest guidelines on its diagnosis and management.Copyright © 2021 Medical Information Center. All rights reserved.
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Background: Contraceptives are an important component of women's reproductive health care, as they not only reduce the number of unwanted pregnancies, but also improve reproductive function. However, oral contraceptives are known to increase the risk of venous thromboembolism. This risk is increased by infection with the COVID-19 virus that predisposes patients to both venous and arterial thrombosis as a result of excessive inflammation, platelet activation, aggravated endothelial dysfunction, and congestive events. If these patients have hereditary thrombophilia, the risk of venous thromboembolism becomes fatal. Case report: The paper describes a clinical case of a patient with total portal vein thrombosis, who have been taking oral contraceptives for a long time and recovering from the novel coronavirus infection. Studying the blood coagulation system and folate cycle genes, by using PCR, has revealed a gene mutation in the plasminogen activator inhibitor (serpine). The authors demonstrate the data of spiral computed tomography of the abdominal organs, as well as changes in laboratory parameters. Conclusion(s): A balanced approach is required when prescribing combined oral contraceptives during the COVID-19 pandemic, especially in women with prothrombotic mutations.Copyright © A group of authors, 2023.
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Background: Contraceptives are an important component of women's reproductive health care, as they not only reduce the number of unwanted pregnancies, but also improve reproductive function. However, oral contraceptives are known to increase the risk of venous thromboembolism. This risk is increased by infection with the COVID-19 virus that predisposes patients to both venous and arterial thrombosis as a result of excessive inflammation, platelet activation, aggravated endothelial dysfunction, and congestive events. If these patients have hereditary thrombophilia, the risk of venous thromboembolism becomes fatal. Case report: The paper describes a clinical case of a patient with total portal vein thrombosis, who have been taking oral contraceptives for a long time and recovering from the novel coronavirus infection. Studying the blood coagulation system and folate cycle genes, by using PCR, has revealed a gene mutation in the plasminogen activator inhibitor (serpine). The authors demonstrate the data of spiral computed tomography of the abdominal organs, as well as changes in laboratory parameters. Conclusion(s): A balanced approach is required when prescribing combined oral contraceptives during the COVID-19 pandemic, especially in women with prothrombotic mutations.Copyright © A group of authors, 2023.
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Background: Diabetes mellitus (DM) represents one of the most common metabolic diseases in the world, with rising prevalence in recent decades. Most cases are generally classified into two major pathophysiological categories: type 1 diabetes mellitus (DM1), which progresses with absolute insulin deficiency and can be identified by genetic and pancreatic islet autoimmunity markers, and type 2 diabetes mellitus (DM2), which is the most prevalent form and involves a combination of resistance to the action of insulin with an insufficient compensatory response of insulin secretion. In the last two decades, in parallel with the increase in childhood obesity, there has also been an increase in the incidence of DM2 in young people in some populations. Other forms of diabetes may affect children and adolescents, such as monogenic diabetes (neonatal diabetes, MODY – maturity onset diabetes of the young, mitochondrial diabetes, and lipoatrophic diabetes), diabetes secondary to other pancreatic diseases, endocrinopathies, infections and cytotoxic drugs, and diabetes related to certain genetic syndromes, which may involve different treatments and prognoses. DM1 is considered an immuno-mediated disease that develops as a result of gradual destruction of insulin-producing pancreatic beta cells that eventually results in their total loss and complete dependence on exogenous insulin. Clinical presentation can occur at any age, but most patients will be diagnosed before the age of 30 years
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Background: Pathogenic mutations in BRCA1 and BRCA2 are associated with high risks of breast (BC) and ovarian cancer (OC). Modifiable life style factors are important in explaining some of the variation in cancer risks in both, OC and BC. Crucial steps to prevent malignant disease are increased physical activity, avoidance of smoking, limitation of the intake of red meat or alcohol. Method(s): To assess possible changes in life style, a web-based survey was placed on internet platforms of patients' support groups between 29th January and 22th April 2021. Missing data were composed of those patients who did not answer the question or who did not have a clear opinion regarding the topic. Data are presented as frequencies of selected items. Group differences were calculated by chi2-test. Result(s): During the pandemic, 10.5% of respondents consumed significantly more or more alcohol, while 31.6% consumed less or significantly less alcohol than before the pandemic. With respect to abuse of nicotine, 11.8% consumed more and 17.6% consumed less than before the pandemic. 16.2% engaged in significantly more or more physical activity, whereas 47.1% engaged in less or significantly less physical activity, respectively. 8.7% stated that they maintained a healthy body weight, while 17.4% did not. A healthy diet was strictly observed or observed by 13.9% of respondents, while 23.6% observed a healthy diet less or significantly less than before the pandemic. Discussion(s): The exact impact of life style changes during the SARS-CoV-2 pandemic on cancer (recurrence) risk, as well as on subsequent survival, is still unknown, but it has the potential to lead to important public health implications in the coming years. Conclusion(s): Thus, especially during challenging periods of life, women at high risk for cancer occurrence or recurrence should be reassured that observing a healthy lifestyle (healthy diet, control of obesity, decreased smoking etc.) is an excellent option for cancer prevention and increased survival.
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Background: The SARS-CoV-2 pandemic has affected the entire world, but some subgroups of patients have been disproportionally affected. Cancer patients showed a higher prevalence of COVID-19 disease, as well as a higher incidence of severe COVID-19 illness and higher death rates from COVID-19. Method(s): To assess the perspectives and believes of women with an increased hereditary risk for breast (BC) and ovarian (OC) cancer regarding infection-specific and cancer-specific risks during the SARS-CoV-2 pandemic, a web-based survey was placed on internet platforms of support groups between 29th January and 22th April 2021. Data are presented as frequencies of selected items. Correlations were assessed by non-parametric tests. Result(s): Asked about their concerns to face a more severe disease course of COVID-19 illness, 44.2% responded, they were not concerned, while 27.3% were more concerned and 23.4% were significantly more concerned. Higher concerns were correlated with higher age (p=0.001) and were associated with a positive history of invasive breast cancer (p=0.001). When asked about concerns of being at higher risk for occurrence of breast and ovarian cancer after being infected with SARS-CoV-2, 72.7% reported no concerns, while 11.7% reported moderate concerns and 5.2% had significant concerns. Higher concerns were correlated with higher age (p<0.047), while higher resilience was a protective factor (p=0.029) Those with a positive medical history for in situ or invasive BC or OC were asked about concerns regarding an unfavorable oncological outcome as a result of an infection with SARS-CoV-2. 23.0% had no concerns, while 24.3% had moderate increased concerns and 14.9% reported significantly increased concerns. Discussion(s): Age proved to be a risk factor for health-related worries during the COVID-19 pandemic, while higher resilience proved to be protective to health-related concerns. Conclusion(s): Patients with additional risk factors may be at risk to experience health-related worries and anxiety, and should be monitored closely.
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Background: Patients with cancer are at higher risk to be infected by SARS-CoV-2, are more likely to develop a severe COVID-19 illness, and are more likely to die as a result of COVID-19. Thus, several strategies were proposed to mitigate the SARS-CoV-2 pandemic crisis with respect to people at higher risk, such as implementing strict personal precautions in cancer patients or cancer survivors. Method(s): To assess the expectations and perspectives of women with an increased hereditary risk for breast and ovarian cancer regarding measures to prevent infection and implement environmental control during the SARS-CoV-2 pandemic, a web-based survey was placed on internet platforms of support groups between 29th January and 22th April 2021. Missing data were composed of those patients who did not answer the question or who did not have a clear opinion regarding the topic. Data are presented as frequencies of selected items. Result(s): 37.5% of participants stated, that they would like to be informed about the hygiene concept of the health care institution and 20.3% reported that this information would have changed their own behavior. To prevent the spread of the virus, 57.8% of respondents approved testing of patients previous to a visit to a health care facility and 95.3% stated, that health care professionals should be tested on a regular basis. 93.8% approved the change of appointments to ensure social distancing, but 75.0% would support the possibility to be escorted by a significant other during medical appointments. To avoid unnecessary possible exposure, 71.9% of participants endorsed the possibility of virtual patient consultations. Additionally, 84.4% of respondents expected, that health care personnel used at least surgical masks, and 68.8% expected, that the health care personnel used FFP-2 masks. Discussion(s): Protecting patients at risk and medical caregivers is a priority during pandemics. Conclusion(s): Our data emphasize the wish and need for reorganization of health care facilities with the aim to protect patients at risk.
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Sjogren's syndrome (SS) is a multifactorial systemic autoimmune disease of unknown aetiology characterised by a wide spectrum of different clinical manifestations and scattered complications. Recently, great efforts have been made to elucidate mechanisms involved in the pathogenesis of the disease in order to identify exploitable therapeutic targets in SS. Similarly, novel insights have enabled to better define disease phenotypes and different outcomes. Ultimately, the discovery of new potential therapeutic targets and a better stratification of patients are paving new avenues for novel treatment options and treat-to-target therapeutic approach. In this review, we will provide a critical digest of the recent literature published in 2020 on SS pathogenesis, clinical manifestations and novel treatment options. © Copyright Clinical and Experimental Rheumatology 2021.
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Following the new health needs emerged during the covid pandemic, in June 2021, the Cancer and Research Center of Marches Region, CORM (www.corm-marche.it) was instituted at the Department of Oncology of the Academic Hospital Ospedali Riuniti, Ancona (IT) with the Italian Ministry of Health patronage. The CORM includes:-The digital platform for telemedicine to offer the ability to admit de novo diagnosis of solid tumors, as well as provide second opinions and to promote continutiy of care between hospital and territory-The Molecular Tumor Board, a multidisciplinary board including clinicians, pathologists and biologists to recommend personalized therapy in the "Precision Medicine" era. High throughput genomic profiling tests may be indicated by MTB team: foundation one cdx/liquid biopsy/ heme, 16 genes DNA panel and other panels that are relevant in different types of tumors, NTRK evaluation and PDL1 test. The molecular profiles are useful to indicate new treatment strategies, but also to understand the mechanism of resistance otherwise not justificable with a standard approach.-The Clinical Trial Unit which performs about 40 interventional trials/year and includes a phase 1 unit, certified by AIFA. Every year, 100 patients are enrolled in clinical trials, about 10/year in phase 1 trials.-The Regional Center of High Specialization in Oncological Genetics. In December 2004, the Regional Center of High Specialization in Oncological Genetics was instituted and we developed an increasing expertise in genetic counseling and tests for hereditary syndrome (hereditary breast and ovarian cancer syndrome and Lynch syndrome). Last year, we conducted 3166 genetic counseling, consisting of collecting genetic information and drawing pedigree, making or validating diagnosis, communicating clinical and genetic information and supporting the family to reach a decision and take appropriate actions. From January 2022, we activate the telemedicine platform also for genetic counseling to select patients who deserve genetic testing and come from distant territories. We aim to create a technological network between the oncology departments and general practitioners, patient associations and all the other specialists to guarantee the continuity of care and to overcome the disparities in oncological health services, simplifying cancer clinical management.
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SESSION TITLE: COVID-19 Case Report Posters 3 SESSION TYPE: Case Report Posters PRESENTED ON: 10/19/2022 12:45 pm - 01:45 pm INTRODUCTION: Due to a wide range of clinical presentations, central venous thrombosis (CVT) is a rare neurologic condition that can be difficult to diagnose. Since the COVID-19 pandemic, more cases of venous thromboembolic events have emerged and been found associated with COVID-19. We detail a potential case of COVID-19 associated CVT. CASE PRESENTATION: A 28-year-old female with past medical history of obesity, polycystic ovary syndrome, recurrent sinusitis, and presumed history of COVID-19 infection with anosmia, ageusia, and sinusitis symptoms three- months prior presented to the hospital with 1-month history of worsening, right-sided pain behind her ear, eye, head, posterior neck and shoulder, nausea, and photophobia, which had worsened in the last 5 days. She initially tried over-the-counter medications with no improvement. Vital signs were unremarkable. Examination was notable for frontal sinus and right postauricular tenderness to palpation. C- reactive protein was elevated at 26.2 mg/L. Non- contrasted brain computed tomography (CT) was concerning for right transverse sinus and superior sagittal sinus thrombosis. Brain magnetic resonance imaging (MRI) showed early signs of cortical edema and venous infarction and findings concerning for right mastoiditis. Intracranial venous MRI showed complete thrombosis of the right transverse and sigmoid sinus, superior sagittal sinus, and most of the superior draining cortical veins. Heparin drip was started. Initial empiric antibiotics for mastoiditis were stopped. Hyper-coagulopathy work-up with beta- 2 glycoprotein 1 antibodies and phospholipid antibodies were negative. As there were no other inciting factors for CVT found and no history of positive COVID-19 test, a COVID-19 antibody immunoassay was obtained and returned positive. The patient did not have a history of COVID vaccination. She was discharged on warfarin and enoxaparin. Anticoagulation was stopped after 6 months with repeat imaging showing resolution of clot burden. DISCUSSION: Usual risk factors associated with CVT are morbid obesity, hormone replacement therapy, oral contraceptive use, hereditary thrombophilia, and pregnancy. Literature on CVT related to COVID-19 is limited. In 41 documented cases, the average age of incidence is 50 years old and median onset of neurological symptoms from initial COVID-19 diagnosis is 7 days [0 to 21 days]. Our patient's neurological symptoms began about 3 months after her initial diagnosis, potentially making it the first known case of COVID-19 associated CVT with symptom onset past 21 days. Anticoagulation is the mainstay treatment for CVT, and duration depends on the presence of provoking factor. CONCLUSIONS: In patients with new neurologic symptoms and recent diagnosis of COVID-19, CVT should be considered in the differential diagnosis as it can initially present in a subtle manner. Early recognition could improve patient morbidity and mortality. Reference #1: Abdalkader, M., Shaikh, S. P., Siegler, J. E., Cervantes-Arslanian, A. M., Tiu, C., Radu, R. A., Tiu, V. E., Jillella, D. v., Mansour, O. Y., Vera, V., Chamorro, Á., Blasco, J., López, A., Farooqui, M., Thau, L., Smith, A., Gutierrez, S. O., Nguyen, T. N., Jovin, T. G. (2021). Cerebral Venous Sinus Thrombosis in COVID-19 Patients: A Multicenter Study and Review of Literature. Journal of Stroke and Cerebrovascular Diseases. https://doi.org/10.1016/j.jstrokecerebrovasdis.2021.105733 Reference #2: Idiculla, P. S., Gurala, D., Palanisamy, M., Vijayakumar, R., Dhandapani, S., Nagarajan, E. (2020). Cerebral Venous Thrombosis: A Comprehensive Review. European Neurology (Vol. 83, Issue 4). https://doi.org/10.1159/000509802 Reference #3: Ostovan VR, Foroughi R, Rostami M, et al. Cerebral venous sinus thrombosis associated with COVID-19: a case series and literature review. Journal of Neurology. 2021 Oct;268(10):3549-3560. DOI: 10.1007/s00415-021-10450-8. PMID: 33616740;PMCID: PMC7897893. DI CLOSURES: No relevant relationships by Shu Xian Lee No relevant relationships by Arif Sarwari No relevant relationships by Benita Wu