THE BENEFITS OF MODERN SUBSTITUTION THERAPY IN HEMOPHILIA

1987 ◽  
Author(s):  
C Smit ◽  
I Varekamp ◽  
F Rosendaal ◽  
A Bröcker-Vriends ◽  
T Suurmeijer ◽  
...  
Keyword(s):  
Coagulation Factor ◽  
Social Situation ◽  
Home Treatment ◽  
Treatment Modalities ◽  
Prophylactic Therapy ◽  
Severe Hemophilia ◽  
Male Population ◽  
General Male Population ◽  
B 41 ◽  
The Impact

Coagulation factor preparations became available in the treatment of hemophilia about twenty years ago, followed by the introduction of prophylactic therapy and home-treatment. The purpose of our longitudinal study was to quantify the impact of these treatment modalities on the medical and social situation of hemophiliacs.We carried out three mail surveys (1972, 1978 and 1985) among Dutch hemophiliacs. In 1985 we sent questionnaires to 1162 of the estimated total of 1300 patients with a response of 81%. Eighty-six percent of the respondents had hemophilia A, 14% hemophilia B; 41% had severe hemophilia (<1%) 19% moderately-severe (1-5%) and 40% mild hemophilia (>5%). Growth of prophylactic therapy and home-treatment for severe hemophilia was The mean age increased from 21 yrs in 1972 (n=435) to 29 yrs in 1985 (n=935)(general male population: 34 yrs). The number of manifest bleedings decreased from 25 in 1972 to 15 in 1985, with a corresponding decrease in the number of transfusions for acute bleedings. Hospitalization per 100 patients with severe hemophilia decreased from more than 2100 days in 1972 to 440 days in 1985. Non-attendance at school caused by hemophilia dropped from 6 to 2 weeks per year, and sickleave from work from 35 to 15 days per year, so that it now equals sickleave among the general male population. Unemployment figures for hemophiliacs were similar to those for the general population, but disability figures are still higher. Our study shows in a quantitative way that the benefits of modern hemophilia treatment are impressive and that its costs are more than justified.

How I treat age-related morbidities in elderly persons with hemophilia

Blood ◽  
2009 ◽  
Vol 114 (26) ◽  
pp. 5256-5263 ◽  
Author(s):  
Pier M. Mannucci ◽  
Roger E. G. Schutgens ◽  
Elena Santagostino ◽  
Evelien P. Mauser-Bunschoten
Keyword(s):  
Replacement Therapy ◽  
Coagulation Factor ◽  
Comprehensive Treatment ◽  
Elderly Persons ◽  
Bleeding Tendency ◽  
Nonvalvular Atrial Fibrillation ◽  
Male Population ◽  
Age Related ◽  
Optimal Health ◽  
General Male Population

Abstract In persons with hemophilia, life expectancy is now approaching that of the general male population, at least in countries that can afford regular replacement therapy with coagulation factor concentrates. The new challenges for comprehensive treatment centers are thus to provide optimal health care for this aging population of patients, who often present not only with the comorbidities typically associated with hemophilia (arthropathy, chronic pain, blood-borne infections), but also with common age-related illnesses such as cardiovascular disease and cancer. There are no evidence-based guidelines for the management of these conditions, which often require drugs that interfere with hemostasis, enhance the bleeding tendency, and warrant more intensive replacement therapy. At the moment, elderly patients with hemophilia affected by other diseases should be managed like their age-group peers without hemophilia, provided replacement therapy is tailored to the heightened risk of bleeding associated with the need for invasive procedures and drugs that further compromise the deranged hemostasis. More detailed advice is provided on the schedules of replacement therapy needed to tackle cardiovascular diseases, such as acute coronary syndromes and nonvalvular atrial fibrillation, because these conditions will become more and more frequent challenges for the comprehensive treatment centers.

scholarly journals Cardiovascular disease in transgendered people: A review of the literature and discussion of risk

2019 ◽  
Vol 8 ◽  
pp. 204800401988074 ◽  
Author(s):  
Leighton J Seal
Keyword(s):  
Cardiovascular Disease ◽  
Hormonal Therapy ◽  
Cardiovascular Health ◽  
Current Evidence ◽  
Male Population ◽  
Transgendered People ◽  
Increased Risk ◽  
General Male Population ◽  
The Impact ◽  
Lipid Parameters

This review examines the impact of gender affirming hormone therapy used in the transgendered and non-binary populations on cardiovascular outcomes and surrogate markers of cardiovascular health. Current evidence suggests that hormonal therapy for transgendered women decreases or is neutral regarding myocardial infarction risk. There is an increased incidence of venous thromboembolism (VTE), but newer studies suggest that the risk is significantly lower than previously described. For transgendered men, there appears to be an adverse effect on lipid parameters but this does not translate into an increased risk of cardiovascular disease above that of general male population. In all transgendered people, risk factor interventions such as smoking cessation, weight management and treatment of co-morbid conditions are important in optimising cardiovascular health. The effect of gender affirming hormonal therapy in transgendered people is difficult to interpret due to the variety of hormone regimens used, the relative brevity of the periods of observation and the influence of confounding factors such as the historical use of less physiological, oestrogens such as conjugated equine oestrogen and ethinylestradiol which are more pro-thrombotic than the 17β oestradiol that is used in modern practice.

scholarly journals Metachronous Contralateral Testicular Cancer in the Cisplatin Era: A Population-Based Cohort Study

2020 ◽  
pp. JCO.20.02713
Author(s):  
Ragnhild Hellesnes ◽  
Tor Åge Myklebust ◽  
Roy M. Bremnes ◽  
Ása Karlsdottir ◽  
Øivind Kvammen ◽  
...  
Keyword(s):  
Testicular Cancer ◽  
Population Based ◽  
Treatment Intensity ◽  
Male Population ◽  
Cox Proportional Hazard ◽  
General Male Population ◽  
Treatment Data ◽  
Effect Of Treatment ◽  
Cox Proportional Hazard Regression ◽  
The Impact

PURPOSE It is hypothesized that cisplatin-based chemotherapy (CBCT) reduces the occurrence of metachronous contralateral (second) germ cell testicular cancer (TC). However, studies including treatment details are lacking. The aim of this study was to assess the second TC risk, emphasizing the impact of previous TC treatment. PATIENTS AND METHODS Based on the Cancer Registry of Norway, 5,620 men were diagnosed with first TC between 1980 and 2009. Treatment data regarding TC were retrieved from medical records. Cumulative incidences of second TC were estimated, and standardized incidence ratios were calculated. The effect of treatment intensity was investigated using Cox proportional hazard regression. RESULTS Median follow-up was 18.0 years, during which 218 men were diagnosed with a second TC after median 6.2 years. Overall, the 20-year crude cumulative incidence was 4.0% (95% CI, 3.5 to 4.6), with lower incidence after chemotherapy (CT) (3.2%; 95% CI, 2.5 to 4.0) than after surgery only (5.4%; 95% CI, 4.2 to 6.8). The second TC incidence was also lower for those age ≥ 30 years (2.8%; 95% CI, 2.3 to 3.4) at first TC diagnosis than those age < 30 years (6.0%; 95% CI, 5.0 to 7.1). Overall, the second TC risk was 13-fold higher compared with the risk of developing TC in the general male population (standardized incidence ratio, 13.1; 95% CI, 11.5 to 15.0). With surgery only as reference, treatment with CT significantly reduced the second TC risk (hazard ratio [HR], 0.55). For each additional CBCT cycle administered, the second TC risk decreased significantly after three, four, and more than four cycles (HRs, 0.53, 0.41, and 0.21, respectively). CONCLUSION Age at first TC diagnosis and treatment intensity influenced the second TC risk, with significantly reduced risks after more than two CBCT cycles.

LIFE-EXPECTANCY OF DUTCH HEMOPHILIACS, 1972-1985

1987 ◽  
Author(s):  
F Rosendaal ◽  
C Smit ◽  
I Varekamp ◽  
A Bröcker-Vriends ◽  
T Suurmeijer ◽  
...  
Keyword(s):  
Cause Of Death ◽  
Life Insurance ◽  
Excess Mortality ◽  
Reference Group ◽  
Coagulation Factor ◽  
Male Population ◽  
Relative Mortality ◽  
General Male Population ◽  
Carry Over

The 1ife-expectancy of hemophiliacs has risen during the last decades from (for severe hemophilia) a mere 16 yrs in 1940, 23 yrs in 1964 to almost normal after coagulation factor preparations became available. Still, many hemophiliacs encounter ratings or refusals when applying for life-insurance.We carried out three mail surveys (1972, 1978, 1985) among Dutch hemophiliacs to establish excess mortality caused by hemophilia. Follow-up for non-respondents was carried out with help from the municipal authorities, while information on the deceased was obtained from the hemophilia treatment centers. To compare mortality with the general population, we constructed Kaplan-Meier reference curves for population groups with the same age and sex distribution, using national death tables. Pending completion of the follow-up for the 1972-1985 interval, this abstract supplies the results for the 1978-1985 period.The 1978 cohort included 578 individuals, with a mean age of 26 yrs (general male population: 33 yrs). None were lost to follow-up, 22 (3.8%) had died during the 7i yrs of observation. In the reference group 1.9% mortality would have been expected. So, overall relative mortality is increased twofold compared to the general male population (95% confidence interval 1.3-3.0). Patients with an inhibitor excluded, excess mortality did not differ much for severe, moderate and mild hemophilia (relative mortality: 2.3, 1.8, 1.5). In 11 cases hemorrhage was the cause of death, but in 6 cases this was associated with an underlying lethal disorder. In 9 cases the cause of death was not related to hemophilia and in 2 it remained unknown. An inhibitor was present in 4 (18%) of these 22 patients, but in only 4% of the total group of 578. In the 1972 survey 43% of the respondents who had applied for a life-insurance (n=199) reported a rating or a refusal, in 1978 47% of 227 and in 1985 53% of 676.The excess mortality caused by hemophilia is small and similar to that due to smoking cigarettes. Moreover, the excess may be caused in part by a carry-over effect from the time before modern treatment was introduced.

The Need to Belong and the Relationship Between Loneliness and Health

2014 ◽  
Vol 22 (4) ◽  
pp. 194-201 ◽  
Author(s):  
Freda-Marie Hartung ◽  
Britta Renner
Keyword(s):  
Individual Differences ◽  
Social Isolation ◽  
Social Situation ◽  
First Year ◽  
Health State ◽  
Need To Belong ◽  
First Year University ◽  
Perceived Social Isolation ◽  
The Impact ◽  
The Relationship

Humans are social animals; consequently, a lack of social ties affects individuals’ health negatively. However, the desire to belong differs between individuals, raising the question of whether individual differences in the need to belong moderate the impact of perceived social isolation on health. In the present study, 77 first-year university students rated their loneliness and health every 6 weeks for 18 weeks. Individual differences in the need to belong were found to moderate the relationship between loneliness and current health state. Specifically, lonely students with a high need to belong reported more days of illness than those with a low need to belong. In contrast, the strength of the need to belong had no effect on students who did not feel lonely. Thus, people who have a strong need to belong appear to suffer from loneliness and become ill more often, whereas people with a weak need to belong appear to stand loneliness better and are comparatively healthy. The study implies that social isolation does not impact all individuals identically; instead, the fit between the social situation and an individual’s need appears to be crucial for an individual’s functioning.

ON THE REGIME OF COVID-19 EPIDEMIC IN RUSSIA AND ITS IMPACT UPON THE FUEL AND ENERGY COMPLEX, INCLUDING IN EDUCATIONAL AND SCIENTIFIC SPHERES

2020 ◽  
Author(s):  
Svetlana Punanova ◽  
Mikhail Rodkin
Keyword(s):  
Statistical Data ◽  
Social Economic ◽  
Social Situation ◽  
Research Education ◽  
Energy Complex ◽  
The Social ◽  
Political Modernization ◽  
Mode Of Development ◽  
The Impact ◽  
Regions Of Russia

The mode of development of the COVID-19 pandemic in Russia and the impact of the epidemic on the areas of scientific research, education and functioning of the fuel and energy complex are discussed. The official statistics revealed evidence both of effectivity of the taken anti-epidemic measures in Moscow and of possible cases of incorrectness of statistical data. The social situation and the mode of development of the epidemic in Moscow and in the regions of Russia are essentially different, that reduces the effectiveness of anti-epidemic measures introduced uniformly throughout the whole country. The conditions of the pandemic and quarantine are difficult for everyone, but organizations and persons with a more modern informational character of production adapt to them more easily. In general, it can be suggested that the epidemic besides the very essential losses gives an important impulse for social-economic and political modernization of the society.

scholarly journals Genetic variations influence brain changes in patients with attention-deficit hyperactivity disorder

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Santosh K. Yadav ◽  
Ajaz A. Bhat ◽  
Sheema Hashem ◽  
Sabah Nisar ◽  
Madeeha Kamal ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Brain Imaging ◽  
Attention Deficit ◽  
Genetic Variations ◽  
Imaging Genetics ◽  
Treatment Modalities ◽  
Genetic Studies ◽  
Hyperactivity Disorder ◽  
Clinical Biomarkers ◽  
The Impact

AbstractAttention-deficit hyperactivity disorder (ADHD) is a neurological and neurodevelopmental childhood-onset disorder characterized by a persistent pattern of inattentiveness, impulsiveness, restlessness, and hyperactivity. These symptoms may continue in 55–66% of cases from childhood into adulthood. Even though the precise etiology of ADHD is not fully understood, it is considered as a multifactorial and heterogeneous disorder with several contributing factors such as heritability, auxiliary to neurodevelopmental issues, severe brain injuries, neuroinflammation, consanguineous marriages, premature birth, and exposure to environmental toxins. Neuroimaging and neurodevelopmental assessments may help to explore the possible role of genetic variations on ADHD neuropsychobiology. Multiple genetic studies have observed a strong genetic association with various aspects of neuropsychobiological functions, including neural abnormalities and delayed neurodevelopment in ADHD. The advancement in neuroimaging and molecular genomics offers the opportunity to analyze the impact of genetic variations alongside its dysregulated pathways on structural and functional derived brain imaging phenotypes in various neurological and psychiatric disorders, including ADHD. Recently, neuroimaging genomic studies observed a significant association of brain imaging phenotypes with genetic susceptibility in ADHD. Integrating the neuroimaging-derived phenotypes with genomics deciphers various neurobiological pathways that can be leveraged for the development of novel clinical biomarkers, new treatment modalities as well as therapeutic interventions for ADHD patients. In this review, we discuss the neurobiology of ADHD with particular emphasis on structural and functional changes in the ADHD brain and their interactions with complex genomic variations utilizing imaging genetics methodologies. We also highlight the genetic variants supposedly allied with the development of ADHD and how these, in turn, may affect the brain circuit function and related behaviors. In addition to reviewing imaging genetic studies, we also examine the need for complementary approaches at various levels of biological complexity and emphasize the importance of combining and integrating results to explore biological pathways involved in ADHD disorder. These approaches include animal models, computational biology, bioinformatics analyses, and multimodal imaging genetics studies.

scholarly journals Combining tissue and circulating tumor DNA increases the detection rate of a CTNNB1 mutation in hepatocellular carcinoma

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Stine Karlsen Oversoe ◽  
Michelle Simone Clement ◽  
Britta Weber ◽  
Henning Grønbæk ◽  
Stephen Jacques Hamilton-Dutoit ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Mutation Rate ◽  
Detection Rate ◽  
Tumor Tissue ◽  
Circulating Tumor Dna ◽  
Treatment Modalities ◽  
Advanced Hepatocellular Carcinoma ◽  
Tissue Samples ◽  
The Impact ◽  
Tumor Dna

Abstract Background and aims Studies suggest that mutations in the CTNNB1 gene are predictive of response to immunotherapy, an emerging therapy for advanced hepatocellular carcinoma (HCC). Analysis of circulating tumor DNA (ctDNA) offers the possibility of serial non-invasive mutational profiling of tumors. Combining tumor tissue and ctDNA analysis may increase the detection rate of mutations. This study aimed to evaluate the frequency of the CTNNB1 p.T41A mutation in ctDNA and tumor samples from HCC patients and to evaluate the concordance rates between plasma and tissue. We further evaluated changes in ctDNA after various HCC treatment modalities and the impact of the CTNNB1 p.T41A mutation on the clinical course of HCC. Methods We used droplet digital PCR to analyze plasma from 95 patients and the corresponding tumor samples from 37 patients during 3 years follow up. Results In tumor tissue samples, the mutation rate was 8.1% (3/37). In ctDNA from HCC patients, the CTNNB1 mutation rate was 9.5% (9/95) in the pre-treatment samples. Adding results from plasma analysis to the subgroup of patients with available tissue samples, the mutation detection rate increased to 13.5% (5/37). There was no difference in overall survival according to CTNNB1 mutational status. Serial testing of ctDNA suggested a possible clonal evolution of HCC or arising multicentric tumors with separate genetic profiles in individual patients. Conclusion Combining analysis of ctDNA and tumor tissue increased the detection rate of CTNNB1 mutation in HCC patients. A liquid biopsy approach may be useful in a tailored therapy of HCC.

scholarly journals Effect of Intermittent Hypoxia on Metabolic Syndrome and Insulin Resistance in the General Male Population

Medicina ◽  
2021 ◽  
Vol 57 (7) ◽  
pp. 668
Author(s):  
Jung-Yup Lee ◽  
Chan-Won Kim ◽  
Kyung-Chul Lee ◽  
Jae-Hyuk Lee ◽  
Sung-Hun Kang ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Metabolic Syndrome ◽  
Density Lipoprotein ◽  
Resistance Index ◽  
Health Examination ◽  
Male Population ◽  
Incident Type ◽  
Obstructive Sleep ◽  
General Male Population ◽  
Group 5

Background and objectives: Obstructive sleep apnea (OSA) is closely associated with insulin resistance (IR) and is an independent risk factor for incident type 2 diabetes mellitus (T2DM). Most studies evaluate the correlation between OSA and IR in only obese or T2DM patients. Therefore, we tried to investigate the effect of OSA on metabolic syndrome and IR in the general healthy male population. Materials and Methods: 184 subjects who visited a preventive health examination program were recruited for this study. All subjects received overnight polysomnography by a portable device (Watch-PAT 200). We examined several metabolic parameters and a homeostasis model of assessment for insulin resistance index (HOMA-IR). The subjects were divided into three groups by AHI (Apnea-hyponea index): normal group (AHI < 5), mild OSA group (5 ≤ AHI < 15), and moderate-severe OSA group (AHI ≥ 15). They were also divided into two groups according to minimum oxygen saturation: low group, Min-SpO2 < 88%; and high group, Min-SpO2 ≥ 88%. Results: Parameters of metabolic syndrome, including waist circumference, systolic and diastolic blood pressure, triglyceride, and high-density lipoprotein cholesterol showed significant differences among the AHI groups. Furthermore, HOMA-IR showed significant differences among the AHI groups. Those parameters, including metabolic syndrome and HOMA-IR, also showed differences between Min-SpO2 groups. Conclusions: In summary, this study helps confirm that AHI is associated with HOMA-IR in the general male population. Furthermore, the severity of AHI correlated with the parameters of metabolic syndrome. Therefore, AHI might be an indicator for evaluating both T2DM and metabolic syndrome, even in the general male population.

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