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1.
J Ment Health ; 33(3): 386-393, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38845178

ABSTRACT

BACKGROUND: Mental illnesses and mental health challenges have become increasingly pervasive among Chinese university students. However, the utilization rate of mental health services is low among students. AIMS: We aimed to explore Chinese university students' help-seeking behaviors to understand how they deal with mental health challenges and use the results to inform the development of effective mental health promotion initiatives. METHODS: In this study, we conducted 13 focus group interviews with students in six universities in Jinan, China, including 91 (62%) female students and 56 (38%) male students. We drew on the Theory of Planned Behaviors to guide our thematic analysis to gain a contextual understanding of participants' accounts on help-seeking. RESULTS: Our results have depicted the help-seeking patterns of Chinese university students and show that there are four major behaviors which are self-reliance, seeking support from peers and families, seeking professional support, and accessing virtual mental health care. CONCLUSION: Results from this study can be used to inform the development of mental health literacy programming for students in universities that share similar contexts, and the study has also opened up a new space for using qualitative approaches to study mental health needs and access to care in diverse populations.


Subject(s)
Help-Seeking Behavior , Mental Disorders , Mental Health Services , Students , Humans , Female , Male , Students/psychology , Universities , Young Adult , China , Mental Disorders/therapy , Mental Disorders/psychology , Patient Acceptance of Health Care/psychology , Adult , Focus Groups , Mental Health , Adolescent
3.
East Asian Arch Psychiatry ; 31(4): 97-104, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34987120

ABSTRACT

OBJECTIVES: To determine the psychometric properties of the Chinese version of the work and social adjustment scale (CWSAS) in outpatients with common mental disorders, and to evaluate the correlations of CWSAS with Physical Health Questionnaire-9 (PHQ-9), General Anxiety Disorder-7 (GAD-7), World Health Organization Five Well-being Index (WHO-5), and Chinese version of the Perceived Stress Scale-10 (CPSS-10). METHODS: Forward and backward translations of the CWSAS was performed. Between October 2018 and March 2020, 252 outpatients with a common mental disorder who had a job or a job plan were recruited from two psychiatric centres in Hong Kong. Participants were asked to complete the CWSAS, PHQ-9, GAD-7, WHO-5, and CPSS-10. Classical test theory and Rasch analysis were undertaken to determine the psychometric properties of the CWSAS and its correlations with other tools. RESULTS: Principal component analysis revealed that the CWSAS was a one-factor structure and showed adequate convergent and discriminant validities, internal consistency, item-total correlation, and inter-item correlation. There was a significant group difference in terms of employment status. CPSS-10 and PHQ-9 were predictors for CWSAS score. The CWSAS was a distinct factor among other outcome measures. Rasch analysis indicated that the CWSAS was well-targeted and unidimensional. The CWSAS had an adequate person separation index, item separation index, person reliability, and item reliability. No categorical disordering was found, whereas inadequate adjacent threshold distance was reported. The item of ability to work indicated a noticeable differential item functioning in employment status and main source of finance. CONCLUSION: The CWSAS is psychometrically appropriate to measure functional outcomes in outpatients with common mental disorders.


Subject(s)
Mental Disorders , Outpatients , Hong Kong , Humans , Psychometrics , Reproducibility of Results , Social Adjustment , Surveys and Questionnaires
5.
Curr Oncol ; 25(1): e73-e82, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29507498

ABSTRACT

Cervical cancer rates are disproportionately high among women living with the human immunodeficiency virus (wlhiv). Cervical cancer is preventable through hpv screening, regular Pap tests, and early cancer detection. Evidence indicates that hpv and cervical cancer screening are suboptimal among wlhiv, who face a myriad of access barriers. Considering that screening is an effective first-line defense to cervical cancer, we conducted a scoping review with the aim of gaining a better understanding about: (1) the knowledge and perceptions of hpv and cervical cancer screening among wlhiv; and (2) the acceptability of self-sampling for hpv among wlhiv. We searched five electronic databases for peer-reviewed articles that were published in English within the last ten years, reported on studies with hiv-positive women who were aged 16 or older, and satisfied the topics of the review. A total of 621 articles were found. After accounting for duplicates and unmet criteria, 17 articles and 1 abstract, reporting on studies in the United States and Africa, were included in this review. The review highlighted that most wlhiv had inadequate knowledge of hpv transmission and cervical cancer prevention, which influenced their perceptions of risk and susceptibility. Screening barriers included misconceptions about Pap tests, fear of diagnosis of serious illness, perceived pain, embarrassment, bodily modesty, and limited access to female health care providers. This review also affirms that self-sampling is an acceptable and promising screening option for wlhiv. Implications for policy, research, and practice are discussed.

6.
Curr Oncol ; 25(1): e83-e89, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29507499

ABSTRACT

Human papillomavirus (hpv) infection is the cause of anal squamous cell cancer (ascc) in 80% of cases. Available research has also shown high prevalence of anal hpv infection among men who have sex with men (msm). However, hpv vaccination is low among msm in Canada. In light of this information, we conducted a scoping review with the aim of exploring (1) the knowledge of hpv and anal cancer among hiv-positive msm and (2) the acceptability of hpv and anal cancer self-sampling in this population. In conducting the review, we searched five electronic databases for peer-reviewed articles and abstracts published in English, between 2007 and 2017. A total of 803 articles were retrieved; after accounting for duplicates (n=40) and unmet criteria (n=754), a total of 794 articles were excluded. A final total of nine articles were used in this review. Results of this review show that hiv-positive msm have limited knowledge regarding the risks of anal cancer associated with hiv and hpv coinfection. Furthermore, there is limited research on hpv and anal cancer self-sampling in this population. However, the review of available studies suggested that hiv-positive msm were open to anal cancer self-sampling. It also identified potential barriers to self-sampling. In conclusion, we provide suggestions and future directions for policy-makers and educators to develop inclusive and accessible strategies to reach hiv-positive msm regarding anal cancer education and self-screening.

7.
Haemophilia ; 24(1): 113-119, 2018 Jan.
Article in English | MEDLINE | ID: mdl-28922525

ABSTRACT

INTRODUCTION: The treatment of haemophilia varies across countries and across regions within some countries. Similar variation has been observed in health-related quality of life (HR-QoL). Relatively little is known about the HR-QoL of boys with haemophilia in China. AIM: The aim of this study was to describe the HR-QoL of boys with haemophilia in China using the Canadian Haemophilia Outcomes-Kids Life Assessment Tool (CHO-KLAT). METHODS: Boys (4-18 years of age) with haemophilia and their parents were enroled in a cross-sectional study. All parents/guardians of study subjects were requested to complete a CHO-KLAT questionnaire during a clinic visit, and report on several other clinical and socioeconomic factors in the past year. Boys who were > 7 years also completed the CHO-KLAT. RESULTS: A total of 269 parents of boys with haemophilia, from 13 hospitals in 12 provinces, were enroled during 2014. The boys ranged from 4.0 to 17.9 years of age; 91% had haemophilia A, most had moderate (52%) or severe (36%) disease, and most were receiving sub-optimal on-demand therapy or low-dose prophylactic therapy. Child self-report CHO-KLAT scores were available for 171 boys ≥7 years of age and ranged from 24.2 to 85.3 with a mean of 57.6 (n = 171). Parent proxy-reported CHO-KLAT scores ranged from 25.0 to 88.7 with a mean of 55.1 (n = 269). CONCLUSION: HR-QoL scores in boys with haemophilia in China were substantially lower than reported from Canadian and European boys with haemophilia. Longer term prospective studies are required to examine the factors impacting the HR-QoL for boys with haemophilia in China.


Subject(s)
Hemophilia A/psychology , Hemophilia B/psychology , Quality of Life , Adolescent , Child , Child, Preschool , China , Cross-Sectional Studies , Factor IX/therapeutic use , Factor VIII/therapeutic use , Hemophilia A/drug therapy , Hemophilia A/pathology , Hemophilia B/drug therapy , Hemophilia B/pathology , Humans , Male , Outcome Assessment, Health Care/methods , Parents/psychology , Severity of Illness Index , Surveys and Questionnaires
8.
Haemophilia ; 24(1): 126-133, 2018 Jan.
Article in English | MEDLINE | ID: mdl-29148258

ABSTRACT

OBJECTIVE: To explore the influence of medical insurance policy and charity assistance projects on the uptake and discontinuation of regular prophylaxis treatment in Chinese severe haemophilia A children. METHODOLOGY: This retrospective study was conducted on children with severe haemophilia A, who received FVIII prophylaxis treatment at 12 haemophilia centres in China from 1 November 2007 to 31 May 2013. RESULTS: The average duration of prophylaxis treatment received by haemophilia children significantly increased from 16.7 weeks in 2008 to 32.8 weeks in 2012 (P < .001). The main reason for prophylaxis acceptance included dissatisfaction with previous "on-demand" regimens, availability of improved local medical insurance policies and patient/family awareness of haemophilia. The main reason for subsequent discontinuation of prophylaxis was economic instability. The upper limit of insurance was up to RMB 150 000/y (~USD: 22 000/y) for 80.1% of the insured patients and would be sufficient to cover the continuous low-dose prophylaxis regimen. However, for many patients the burden of out-of-pocket copayment cost represented a risk for poor adherence to regular prophylaxis. In about two third of the patients, the annual out-of-pocket copayment cost amounted to >50% of their average annual disposable income. Many patients therefore required assistance from the charity assistance projects, but nonadherence remained prevalent. CONCLUSION: Medical insurance policy and charity assistance projects helped haemophilia children to accept and continue prophylaxis regimens. It was the proportion of the out-of-pocket copayment cost rather than the upper limit of insurance reimbursement that restricted long-term regular low-dose prophylaxis in China.


Subject(s)
Factor VIII/therapeutic use , Hemophilia A/drug therapy , Adolescent , Charities/statistics & numerical data , Child , Child, Preschool , China , Factor VIII/economics , Health Expenditures , Hemophilia A/economics , Humans , Insurance, Health/statistics & numerical data , Male , Retrospective Studies
9.
Haemophilia ; 23(5): 777-783, 2017 Sep.
Article in English | MEDLINE | ID: mdl-28621454

ABSTRACT

INTRODUCTION: Endothelial function has been identified as an independent predictor of cardiovascular risk in the general population. It is unclear if the haemophilia population has a different endothelial function profile compared to the healthy population. AIM: This prospective study aims to assess if there is a difference in endothelial function between haemophilia patients and healthy controls, and the impact of endothelial function on vascular outcomes in the haemophilia population. Baseline cardiovascular risk factors and endothelial function were presented. METHODS: Adult males with haemophilia A or B recruited from the British Columbia and Southern Alberta haemophilia treatment centres were matched to healthy male controls by age and cardiovascular risk factors. Macrovascular endothelial function was assessed by brachial artery flow-mediated dilation (FMD) and nitroglycerin-mediated dilation (NMD), and microvascular endothelial function was assessed by hyperaemic velocity time integral (VTI). Multivariable linear regression was used to assess the association between haemophilia and endothelial function. RESULTS: A total of 81 patients with haemophilia and 243 controls were included. Patients with haemophilia had a similar FMD and NMD compared to controls, although haemophilia was associated with higher FMD on multivariable analysis. Haemophilia was associated with significantly lower VTI on univariate and multivariable analyses, regardless of haemophilia type and severity. CONCLUSIONS: Adult males with haemophilia appear to have lower microvascular endothelial function compared to healthy controls. Future studies to assess the impact of endothelial dysfunction on cardiovascular events in the haemophilia population are needed.


Subject(s)
Endothelium, Vascular/metabolism , Hemodynamics , Hemophilia A/blood , Hemophilia A/physiopathology , Hemophilia B/blood , Hemophilia B/physiopathology , Adult , Biomarkers , Case-Control Studies , Comorbidity , Humans , Male , Middle Aged , Risk Factors
11.
Haemophilia ; 23(3): 430-436, 2017 May.
Article in English | MEDLINE | ID: mdl-28345299

ABSTRACT

INTRODUCTION: Treatment for boys with haemophilia in China is rapidly improving; however, comprehensive outcomes have not been examined prospectively. AIM: The aim of this study was to evaluate the effect of short-term full-dose prophylaxis compared to on-demand treatment, on the Health-Related Quality of Life (HR-QoL) of boys with severe haemophilia A (HA) in China. METHODS: Boys with severe HA (FVIII<1%) completed 3 months of on-demand treatment and 3 months of full-dose prophylaxis (25 FVIII IU per kg 3x per week). The primary outcomes were child- and parent-reported Canadian Hemophilia Outcomes - Kids Life Assessment Tool (CHO-KLAT) scores. The number and type of bleeds and Activities Scale for Kids (ASK) scores were also recorded. RESULTS: Analyses included 23 boys between 4 and 15.9 years of age. The number of bleeds decreased by 94% on prophylaxis (P < 0.0001, Wilcoxon Signed-Rank test). The mean child-reported CHO-KLAT scores for boys ≥7 years (n = 20) was 61.4 (±10.9) during on-demand treatment and 61.9 (±11.4) following short-term prophylaxis (P = 0.72, paired t-test). The mean parent-reported CHO-KLAT score during the on-demand phase was 54.4 (±10.5) with an increase of 3.8 points (±8.1; P = 0.04, paired t-test) following prophylaxis. CONCLUSIONS: Child-reported CHO-KLAT scores were lower in boys with severe HA in China than reported in countries with access to full-dose prophylaxis. Boys reported higher HR-QoL scores than their parents. Small improvements in ASK scores were noted following the prophylaxis phase. These changes were only significant in the parent-reported CHO-KLAT scores. Longer term prospective clinical trials are needed in China to determine the impact of prophylaxis on HR-QoL in boys with severe HA.


Subject(s)
Hemophilia A/drug therapy , Hemophilia A/prevention & control , Quality of Life , Adolescent , Child , China , Dose-Response Relationship, Drug , Factor VIII/pharmacology , Factor VIII/therapeutic use , Hemophilia A/complications , Hemophilia A/physiopathology , Hemorrhage/complications , Humans , Male , Prospective Studies , Time Factors , Treatment Outcome
12.
Haemophilia ; 23(3): 417-421, 2017 May.
Article in English | MEDLINE | ID: mdl-28111886

ABSTRACT

INTRODUCTION: Pharmacokinetics (PK) modelling suggests improvement of trough levels are achieved by using more frequent infusion strategy. However, no clinical study data exists to confirm or quantify improvement in trough level, particularly for low-dose prophylaxis in patients with haemophilia A. AIM: To provide evidence that low dose daily (ED) prophylaxis can increase trough levels without increasing FVIII consumption compared to every-other-day (EOD) infusion. METHODS: A cross-over study on 5 IU kg-1 FVIII daily vs. 10 IU kg-1 EOD infusions, each for 14 days was conducted at the PUMCH-HTC. On the ED schedule, trough (immediate prior to infusion), and peak FVIII:C levels (30 min after infusion) were measured on days 1-5; and trough levels alone on days 7, 9, 11 and 13. For the EOD schedule, troughs, peaks and 4-h postinfusion were measured on day 1; troughs and peaks on days 3, 5, and 7; troughs alone on days 9, 11 and 13 and 24-h postinfusion on days 2, 4 and 6. FVIII inhibitors were assessed on days 0 and 14 during both infusion schedules. RESULTS: Six patients were enrolled. PK evidence showed that daily prophylaxis achieved higher (~2 times) steady-state FVIII trough levels compared to EOD with the same total factor consumption. The daily prophylaxis had good acceptability among patients and reduced chronic pain in the joints in some patients. CONCLUSION: Our PK study shows low-dose factor VIII daily infusion results in higher trough level than with EOD infusion with similar factor VIII consumption in Chinese adult haemophilia A patients.


Subject(s)
Factor VIII/pharmacokinetics , Factor VIII/therapeutic use , Hemophilia A/drug therapy , Activities of Daily Living , Adult , China , Dose-Response Relationship, Drug , Factor VIII/administration & dosage , Factor VIII/metabolism , Female , Hemophilia A/metabolism , Humans , Infusions, Intravenous , Male , Middle Aged , Young Adult
13.
Bone Marrow Transplant ; 52(1): 20-27, 2017 Jan.
Article in English | MEDLINE | ID: mdl-27618682

ABSTRACT

This study aims to provide a detailed analysis of allogeneic stem cell transplantation (allo-SCT) outcomes in a large T-cell acute lymphoblastic leukemia (T-ALL) cohort with a specific emphasis on the effects of pre-transplant minimal residual disease (MRD) and disease subtype, including the aggressive early-thymic precursor (ETP) subtype. Data from 102 allo-SCT patients with a diagnosis of T-ALL from three centers were retrospectively analyzed. Patients were grouped into four T-ALL subtypes: ETP, early, cortical and mature. At 3 years, overall survival (OS), PFS, non-relapse mortality and cumulative incidence (CI) progression were 35, 33, 11 and 55%, respectively. Patients transplanted in first complete remission (CR1) had a 3-year OS of 62% versus those transplanted in CR2 or greater (24%) (hazards ratio 1.6, P=0.2). Patients with MRD positivity at the time of transplant had significantly higher rates of progression compared with those with MRD negativity (76 vs 34%, hazards ratio 2.8, P=0.006). There was no difference in OS, PFS or cumulative incidence (CI) progression between disease subtypes, including ETP (n=16). ETP patients transplanted in CR1 (n=10) had OS of 47%, comparable to other disease subtypes, suggesting that allo-SCT can overcome the poor prognosis associated with ETP. MRD status at transplant was highly predictive of disease relapse, suggesting novel therapies are necessary to improve transplant outcomes.


Subject(s)
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/mortality , Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/therapy , Stem Cell Transplantation , Adolescent , Adult , Aged , Allografts , Child , Child, Preschool , Disease-Free Survival , Female , Humans , Incidence , Male , Middle Aged , Neoplasm, Residual , Retrospective Studies , Survival Rate
14.
Bone Marrow Transplant ; 52(3): 363-371, 2017 Mar.
Article in English | MEDLINE | ID: mdl-27797364

ABSTRACT

The refined disease risk index (DRI) is a powerful prognostic model based solely on the disease type and stage for predicting survival outcomes of various hematological malignancies after allogeneic transplant. Here, we analyzed our series of 690 patients transplanted over the past 15 years, and showed that besides overall survival (OS), the refined DRI is also able to segregate event-free survival and relapse mortality in our cohort of largely Southeast Asian patients with a long and complete follow-up. Stratification by refined DRI remains statistically significant even when broken down by specific diseases each with a smaller number of patients, as well as for a small subset of patients younger than 18 years old, providing a robust model for prognostication. Multivariable analysis shows that refined DRI, age, year of transplant and donor type are independent risk factors for OS. We further demonstrated here that prognostication for a given patient with a specific disease can be made more discriminating by integrating independent risk factors such as age and donor type with the refined DRI. The future development of prognostic system incorporating the refined DRI with patient- and transplant-related risk factors will provide a more precise estimate of transplant outcome.


Subject(s)
Hematologic Neoplasms/mortality , Hematologic Neoplasms/therapy , Hematopoietic Stem Cell Transplantation , Tissue Donors , Adult , Age Factors , Allografts , Disease-Free Survival , Female , Humans , Male , Middle Aged , Risk Assessment , Risk Factors , Survival Rate
15.
Haemophilia ; 22(2): e113-e115, 2016 Mar.
Article in English | MEDLINE | ID: mdl-26872205
16.
Haemophilia ; 21(6): 736-41, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26222883

ABSTRACT

INTRODUCTION: Improvements in haemophilia care have increased life expectancy in persons with haemophilia (PWH). This ageing population presents clinicians with management challenges as they develop age-related comorbidities such as cardiovascular disease (CVD). AIMS: To assess the epidemiology of CVD risk factors and events in an ageing Canadian haemophilia population. METHODS: A retrospective, multicentre chart review was carried out at five Canadian Hemophilia Treatment Centres. PWH (A and B) ≥35 years old were included and data were extracted on CVD risk factors and events. RESULTS: Data from 294 patients' charts were analysed including 222 (75.5%) patients with haemophilia A and 72 (24.5%) patients with haemophilia B with a median age at end of follow-up of 54 years (range = 36-90). Mean follow-up duration was 5.86 years. Cardiovascular risk factors were common: hypertension 31.3% (n = 90), diabetes mellitus 10.5% (n = 29), smoking 21.8% (n = 61), obesity 27.6% (n = 69), dyslipidaemia 22.4% (n = 65), family history 8.5% (n = 24), antiretroviral therapy 12.2% (n = 36). There were 24 CVD events (8.2% of the population) with a median age at event of 63 years (range = 46-83). Events consisted of coronary artery disease (CAD), 14; cerebrovascular disease, 4; and atrial fibrillation, 7. CAD was treated with coronary artery bypass grafting in three patients and percutaneous coronary intervention in nine patients. CVD events were complicated by six bleeding events (three minor and three major). CONCLUSION: Cardiovascular disease risk factors and events are relatively common in PWH. PWH can be safely treated for CVD events with similar procedures as the non-PWH populations, though specific clotting factor prophylaxis protocols are not well defined.


Subject(s)
Cardiovascular Diseases/complications , Cardiovascular Diseases/epidemiology , Hemophilia A/complications , Hemophilia B/complications , Adult , Age Distribution , Aged , Aged, 80 and over , Canada/epidemiology , Cardiovascular Diseases/therapy , Female , Humans , Male , Middle Aged , Risk Factors
17.
Haemophilia ; 21(4): 469-76, 2015 Jul.
Article in English | MEDLINE | ID: mdl-26104147

ABSTRACT

INTRODUCTION: Haemophilia A treatment with factor VIII concentrates requires frequent venipunctures; a central venous access device (CVAD) may be required to facilitate reliable venous access, especially in young children. While CVADs provide reliable venous access, complications such as infection and thrombosis may occur. AIM: The aim of this study was to assess CVAD use in the Canadian Hemophilia Primary Prophylaxis Study (CHPS), a single-arm, multi-centre prospective study whereby factor use is tailored to individual prophylactic need. METHODS: Participants received a tailored, escalating dose, prophylaxis regimen of increasing frequency of FVIII infusions: step-1: 50 IU kg(-1) once weekly; step-2: 30 IU kg(-1) twice weekly; and step-3: 25 IU kg(-1) on alternate days, according to their level of bleeding. CVAD insertion was at the discretion of the local health care team. Details regarding CVAD use during this protocol were analysed. RESULTS: Fifty six boys were enrolled, 21 required 25 CVADs due to difficult venous access. CVADs were inserted at a median age of 1.3 years (range: 0.6-2.1) and were removed at a median age of 8.7 years (range 6.3-11.8). Six participants experienced non-life threatening CVAD-complications, the most frequent being device malfunction requiring CVAD replacement (n = 4). Two boys were shown to have CVAD-associated thrombosis detected on routine imaging; one required removal due to infusion difficulties and the other was asymptomatic and did not require device removal. No CVAD-related infections were documented. CONCLUSION: Our study shows that the CHPS tailored prophylaxis regimen is associated with a decreased requirement for CVADs and with few device-related complications.


Subject(s)
Central Venous Catheters , Factor VIII/therapeutic use , Hemophilia A/drug therapy , Adolescent , Canada , Central Venous Catheters/adverse effects , Child , Child, Preschool , Device Removal , Drug Administration Schedule , Follow-Up Studies , Humans , Infant , Male , Prospective Studies , Thrombosis/etiology
18.
Haemophilia ; 21(6): 846-51, 2015 Nov.
Article in English | MEDLINE | ID: mdl-25982359

ABSTRACT

INTRODUCTION: Both congenital dysfibrinogenemia and haemophilia B (HB) are rare coagulopathies caused by mutations within the fibrinogen and F9 genes respectively. AIM: To investigate the pathogenesis of combined dysfibrinogenemia with HB in a family. METHODS: Coagulation assays, factor IX (FIX) activity (one-stage method), fibrinogen activity (Clauss method), antigen (immunoturbidimetry), fibrinogen polymerization and fibrinolysis velocity were measured. The sequences of fibrinogen genes and F9 were amplified by PCR and analysed by sequencing. RESULTS: The proband, a 16-year-old boy with HB (FIX 2 IU dL(-1) ), also had persistently low Clauss fibrinogen level (0.64-0.65 g L(-1) ) with normal antigen level (2.23 g L(-1) ). The mother had a FIX 45 IU dL(-1) and similarly discrepant low Clauss fibrinogen (0.79 g L(-1) ) to antigen levels (2.23 g L(-1) ). Thrombin time for both were either slightly prolonged or at boundary value. Genetic analysis of the proband and the mother identified similar mutations in the FGG gene (heterozygous c.1042T>A resulting in p.Phe348Ile or γPhe322Ile in the mature protein) and in the F9 gene (c.1243del p.His415Metfs*11 and c.1245T>A p.His415Gln). The father had no fibrinogen or F9 gene mutations. Plasma fibrinogen polymerization was delayed, but fibrinolysis velocity was normal in the proband and his mother. CONCLUSION: To our knowledge, this is the first report of a family with combined novel dysfibrinogen (Fibrinogen Beijing) and HB with bleeding manifestations.


Subject(s)
Afibrinogenemia/complications , Afibrinogenemia/genetics , Fibrinogen/genetics , Hemophilia B/complications , Mutation , Pedigree , Peptide Fragments/genetics , Adolescent , Afibrinogenemia/physiopathology , Blood Coagulation Tests , DNA Mutational Analysis , Female , Fibrinogen/chemistry , Fibrinogen/metabolism , Fibrinolysis , Humans , Male , Peptide Fragments/chemistry , Peptide Fragments/metabolism , Protein Multimerization , Protein Structure, Quaternary
19.
Bone Marrow Transplant ; 50(4): 493-8, 2015 Apr.
Article in English | MEDLINE | ID: mdl-25621808

ABSTRACT

We compared outcomes of adult patients receiving T-cell-depleted (TCD) hematopoietic SCT (HCT) without additional GVHD prophylaxis at Memorial Sloan Kettering Cancer Center (MSKCC, N=52), with those of patients receiving conventional grafts at MD Anderson Cancer Center (MDACC, N=115) for ALL in CR1 or CR2. Patients received myeloablative conditioning. Thirty-nine patients received anti-thymocyte globulin at MSKCC and 29 at MDACC. Cumulative incidence of grades 2-4 acute (P=0.001, 17.3% vs 42.6% at 100 days) and chronic GVHD (P=0.006, 13.5% vs 33.4% at 3 years) were significantly lower in the TCD group. The non-relapse mortality at day 100, 1 and 3 years was 15.4, 25.0 and 35.9% in the TCD group and 9.6, 23.6 and 28.6% in the unmodified group (P=0.368). There was no difference in relapse (P=0.107, 21.3% vs 35.5% at 3 years), OS (P=0.854, 42.6% vs 43.0% at 3 years) or RFS (P=0.653, 42.8% vs 35.9% at 3 years). In an adjusted model, age >50, cytogenetics and CR status were associated with inferior RFS (hazard ratio (HR)=2.16, P=0.003, HR=1.77, P=0.022, HR=2.47, P<0.001), whereas graft type was NS (HR=0.90, P=0.635). OS and RFS rates are similar in patients undergoing TCD or conventional HCT, but TCD effectively reduces the rate of GVHD.


Subject(s)
Hematopoietic Stem Cell Transplantation , Lymphocyte Depletion , Models, Biological , Precursor Cell Lymphoblastic Leukemia-Lymphoma , T-Lymphocytes , Transplantation Conditioning , Adolescent , Adult , Aged , Aged, 80 and over , Allografts , Disease-Free Survival , Female , Humans , Male , Middle Aged , Precursor Cell Lymphoblastic Leukemia-Lymphoma/mortality , Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy , Survival Rate
20.
Haemophilia ; 21(2): 180-189, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25296666

ABSTRACT

The first generation of young men using primary prophylaxis is coming of age. Important questions regarding the management of severe haemophilia with prophylaxis persist: Can prophylaxis be stopped? At what age? To what effect? Can the regimen be individualized? The reasons why some individuals discontinue or poorly comply with prophylaxis are not well understood. These issues have been explored using predominantly quantitative research approaches, yielding little insight into treatment decision-making from the perspectives of persons with haemophilia (PWH). Positioning the PWH as a source of expertise about their condition and its management, we undertook a qualitative study: (i) to explore and understand the lived experience of young men with severe haemophilia A or B and (ii) to identify the factors and inter-relationships between factors that affect young men's treatment decision-making. This manuscript reports primarily on the second objective. A modified Straussian, grounded theory methodology was used for data collection (interviews) and preliminary analysis. The study sample, youth aged 15-29, with severe haemophilia A or B, was chosen selectively and recruited through three Canadian Haemophilia Treatment Centres. We found treatment decision-making to be multi-factorial and used the Framework method to analyze the inter-relationships between factors. A typology of four distinct approaches to treatment was identified: lifestyle routine prophylaxis, situational prophylaxis, strict routine prophylaxis and no prophylaxis. Standardized treatment definitions (i.e.: 'primary' and 'secondary', 'prophylaxis') do not adequately describe the ways participants treat. Naming the variation of approaches documented in this study can improve PWH/provider communication, treatment planning and education.


Subject(s)
Decision Making , Hemophilia A/epidemiology , Hemophilia B/epidemiology , Adolescent , Adult , Age Factors , Canada/epidemiology , Hemophilia A/diagnosis , Hemophilia A/drug therapy , Hemophilia B/diagnosis , Hemophilia B/drug therapy , Humans , Life Style , Male , Premedication , Qualitative Research , Risk Factors , Severity of Illness Index , Young Adult
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