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1.
PLoS One ; 17(5): e0266377, 2022.
Article in English | MEDLINE | ID: mdl-35536834

ABSTRACT

OBJECTIVE: To identify hospital and primary care health service use among people with mental health conditions or addictions in an integrated primary-secondary care database in Toronto, Ontario. METHOD: This was a retrospective cohort study of adults with mental health diagnoses using data from the Health Databank Collaborative (HDC), a primary care-hospital linked database in Toronto. Data were included up to March 31st 2019. Negative binomial and logistic regression were used to evaluate associations between health care utilization and various patient characteristics and mental health diagnoses. RESULTS: 28,482 patients age 18 or older were included. The adjusted odds of at least one mental health diagnosis were higher among younger patients (18-30 years vs. 81+years aOR = 1.87; 95% CI:1.68-2.08) and among female patients (aOR = 1.35; 95% CI: 1.27-1.42). Patients with one or more mental health diagnoses had higher adjusted rates of hospital visits compared to those without any mental health diagnosis including addiction (aRR = 1.74, 95% CI: 1.58-1.91) and anxiety (aRR = 1.28, 95% CI: 1.23-1.32). 14.5% of patients with a psychiatric diagnosis were referred to the hospital for specialized psychiatric services, and 38% of patients referred were eventually seen in consultation. The median wait time from the date of referral to the date of consultation was 133 days. CONCLUSIONS: In this community, individuals with mental health diagnoses accessed primary and hospital-based health care at greater rates than those without mental health diagnoses. Wait times for specialized psychiatric care were long and most patients who were referred did not have a consultation. Information about services for patients with mental health conditions can be used to plan and monitor more integrated care across sectors, and ultimately improve outcomes.


Subject(s)
Mental Disorders , Mental Health , Adolescent , Adult , Emergency Service, Hospital , Female , Humans , Male , Mental Disorders/epidemiology , Ontario/epidemiology , Retrospective Studies
2.
Breast Cancer ; 29(3): 437-449, 2022 May.
Article in English | MEDLINE | ID: mdl-35025064

ABSTRACT

PURPOSE: Chronic lymphedema causes psychophysical sequelae jeopardizing quality of life (QoL) of breast cancer (BC) survivors, and lack of effective therapies represents a major challenge for healthcare professionals. Structured adapted physical activity (APA) may represent an effective strategy to attenuate cancer treatment-related impairments and improve QoL. Here, we describe the effects of a specific APA intervention based on a novel multiperspective methodology in counteracting lymphedema-related morphofunctional alterations and improving QoL of BC survivors. METHODS: BC survivors with chronic moderate/severe lymphedema attending the Cancer Rehabilitation Center in Florence were assessed before and after 8-week APA. The protocol consisted of both APA specialist-supervised and self-leaded sessions using a tailor-designed proprioceptive board. Body mass index, bioimpedance parameters, indirect upper limb volume measurement, and ultrasonography were performed. Wrist flexion/extension and hand strength functional tests were also executed. QoL, depression/anxiety and pain intensity were evaluated by ULL27, HADS, distress thermometer and NRS questionnaires, respectively. RESULTS: Although bioimpedance, ultrasound and volumetric measures remained mostly unchanged, wrist mobility, pain perception, depression, and QoL were all significantly ameliorated after APA. CONCLUSIONS: Our findings suggest that a multidisciplinary treatment approach involving APA professionals should be employed in the management of BC-related lymphedema to improve patient psychophysical outcomes and QoL.


Subject(s)
Breast Neoplasms , Cancer Survivors , Lymphedema , Breast Neoplasms/complications , Breast Neoplasms/therapy , Exercise , Female , Humans , Lymphedema/etiology , Lymphedema/therapy , Pilot Projects , Quality of Life , Surveys and Questionnaires , Survivors , Upper Extremity
3.
Clin Breast Cancer ; 22(4): e497-e505, 2022 06.
Article in English | MEDLINE | ID: mdl-34955431

ABSTRACT

INTRODUCTION: Limited data exist on the barriers associated with transitioning breast cancer follow-up care to primary care physicians (PCPs). This study aimed to describe the current perspectives of PCPs in managing breast cancer follow-up. METHOD: An online survey was distributed to PCPs in Toronto, ON, Canada. Questions examined PCPs' view of transitioning breast cancer follow-up care to their practices. RESULTS: Of 800 PCPs invited, 126 responded (response rate: 15.7%). The types of practice models amongst respondents included blended capitation (42.9%), blended salary (27%), and fee-for-service (17.5%). Seventy-seven percent of respondents stated they provided follow-up care. Approximately half of the respondents stated they were somewhat comfortable providing follow-up care. PCP-led follow-up care was considered either very (49.2%) or somewhat appropriate (30.2%). When asked about financial remuneration, 43.7% of respondents stated it was somewhat important. The factors that influenced the feasibility of PCP-led follow-up care included receipt of a detailed follow-up care plan provided by the specialist after discharge (81%), the ability to re-refer to specialists rapidly (56.3%), and the ability to obtain regular updates of best practice changes (59.5%). The preferred means of educational updates included E-mail (40.5%), continuing medical education events (30.2%), and electronic medical records (19.8%). When the fee model was taken into consideration there was no significant difference in opinions regarding follow-up care. CONCLUSIONS: Transitioning to a PCP-led model was supported by most of the PCPs who participated in this study. Their perspective on PCP-led follow up care and barriers associated with implementation of this model of care needs to be further explored with future studies that include larger sample size and a more diverse PCP population.


Subject(s)
Breast Neoplasms , Physicians, Primary Care , Aftercare , Breast Neoplasms/epidemiology , Breast Neoplasms/therapy , Canada , Female , Humans , Practice Patterns, Physicians' , Surveys and Questionnaires
4.
Can Pharm J (Ott) ; 154(4): 278-284, 2021.
Article in English | MEDLINE | ID: mdl-34345321

ABSTRACT

BACKGROUND: Sedative-hypnotic (SH) medications are often used to treat chronic insomnia, with potentially serious long-term side effects. The objective of this study is to evaluate an interprofessional SH deprescribing program within a community team-based, primary care practice, with or without cognitive behavioural therapy for insomnia (CBT-I). METHODS: Retrospective chart review for patients referred to the team pharmacist for SH deprescribing from February 2016 to June 2019. RESULTS: A total of 121 patients were referred for SH deprescribing, with 111 (92%) patients who attempted deprescribing (average age 69, range 29-97 years) and 22 patients who also received CBT-I. Overall, 36 patients (32%) achieved complete abstinence, and another 36 patients (32%) reduced their dosage by ≥50%. For the 36 patients who achieved complete abstinence, 26 (72%) patients remained abstinent at 6 months (9 patients resumed using SH and 1 patient was lost to follow-up). The proportion of patients achieving complete abstinence or reduced dosage of ≥50% (successful tapering) was higher with CBT-I than without CBT-I but did not reach statistical significance (77% vs 62%, p = 0.22). There were also no statistically significant differences detected in the success between those who took a benzodiazepine and those who took a Z-drug (67% vs 61%, p = 0.55) or for those who took SH daily and those who took them intermittently (67% vs 44%, p = 0.09). CONCLUSION: Almost two-thirds of patients participating in our pharmacist-led program were able to stop or taper their SH medications by ≥50%. The role of CBT-I in SH deprescribing remains to be further elucidated. Can Pharm J (Ott) 2021;154:xx-xx.

5.
Article in English | MEDLINE | ID: mdl-32575442

ABSTRACT

Background: Growing evidence indicates that physical/sporting activities may improve the health outcomes and quality of life (QoL) of breast cancer (BC) survivors. Since recent reports have suggested that sailing can improve the psychophysical well-being and QoL of people with disabilities, this pilot study evaluated the effectiveness of a tailored sailing experience on the QoL and psychological distress (PD) of BC survivors. Methods: A group of 19 breast cancer survivors, who were attending the Cancer Rehabilitation Center in Florence, were invited to participate in a sailing school and completed a survey based on a structured online questionnaire assessing QoL and PD both on departure (baseline) and one week after returning (follow-up). The survey comprised a first part (i.e., sociodemographic characteristics and the practice of physical/sporting activities at baseline; sailing experience satisfaction at follow-up) and a second part (i.e., Short Form-12 (SF-12), State/Trait-Anxiety Inventory form Y (STAI-Y), distress thermometer questionnaires). A paired Student's t-test was used to compare the baseline versus follow-up QoL and PD scores. Results: A statistically significant improvement in SF-12 mental component scores and a reduction in both STAI-Y state/trait components and distress thermometer scores were found after the sailing experience. Conclusions: We conclude that sailing practice could be a feasible intervention to increase the psychophysical well-being of BC survivors.


Subject(s)
Breast Neoplasms , Psychological Distress , Quality of Life , Sports , Stress, Psychological , Breast Neoplasms/psychology , Female , Humans , Pilot Projects , Ships , Surveys and Questionnaires , Survivors
6.
Molecules ; 25(2)2020 Jan 14.
Article in English | MEDLINE | ID: mdl-31947511

ABSTRACT

The oxidative decarboxylation of the iron(II) α-hydroxy acid (mandelic acid) complex model, biomimetic of Rieske dioxygenase, has been investigated at the density functional level. The explored mechanism sheds light on the role of the α-hydroxyl group on the dioxygen activation. The potential energy surfaces have been explored in different electronic spin states. The rate-determining step of the process is the proton transfer. The oxidative decarboxylation preferentially takes place on the quintet state.


Subject(s)
Biomimetic Materials/chemistry , Ferrous Compounds/chemistry , Oxidants/chemistry , Oxidative Stress , Oxygen/chemistry , Quantum Theory , Decarboxylation , Dioxygenases/metabolism , Models, Molecular
7.
J Clin Med ; 8(4)2019 Apr 18.
Article in English | MEDLINE | ID: mdl-31003402

ABSTRACT

Physical activity (PA) interventions can improve physical functioning, treatment-related symptoms and quality of life (QoL) in cancer survivors. Most investigations have been conducted in breast cancer survivors, while studies on PA interventions in gynecological cancer survivors are scant. Here, we report for the first time the possible benefits of a structured PA pathway (i.e., eight weeks of adapted PA followed by twelve weeks of adapted fitness) on physical side effects, pain and QoL in an uncommon case of survivorship of both primary breast and gynecological cancers. For this purpose, a 69-year-old woman was assessed by functional test battery (shoulder-arm mobility, range of motion, back flexibility) at baseline and after the structured PA pathway. QoL and surgical shoulder, back and lower limb pain intensity were evaluated by Short Form-12 (SF-12) and numerical rating scale questionnaires, respectively. Lower limb circumference was also assessed. Improvement in upper limb function, reduction of lower limb edema and pain perception, as well as an increase in overall QoL were achieved after the completion of structured PA intervention. Our findings suggest that a PA intervention tailored to individual characteristics may represent an effective countermeasure to reduce post-treatment functional disability and pain, and thus to improve QoL in breast and gynecologic cancer survivors.

8.
Tumori ; 105(4): 288-295, 2019 Aug.
Article in English | MEDLINE | ID: mdl-30185126

ABSTRACT

PURPOSE: Although an optimal goal remains the routine assessment of unmet needs of all patients with cancer, particular attention should be paid to those groups of patients with characteristics known to be more frequently associated with unmet needs in general or with specific areas of need. This report aims to describe the sociodemographic, clinical, and psychological characteristics associated with higher unmet needs in Italian cancer patients. METHODS: A total of 835 cancer patients from different care settings (ward, day hospital, follow-up ambulatory, rehabilitation unit, and palliative care) filled out the Needs Evaluation Questionnaire (NEQ), the Psychological Distress Inventory, and the Sense of Coherence Scale. Association of NEQ scores with the clinical and demographic variables were tested using analysis of variance. RESULTS: Higher NEQ total score was associated with lower educational level, inpatient care setting, radiotherapy treatment, psychological distress, and lower resilience trait sense of coherence. Different predictors were identified for different areas of unmet needs. Care setting, psychological distress, and resilience trait were the strongest indicators of unmet needs in every area: information/communication, assistance/care, material needs, relational needs, and psychoemotional support. CONCLUSIONS: Clinicians should consider that inpatients with a high distress and a low resilience trait sense of coherence represent a group of cancer patients to be investigated with particular attention regarding unmet needs.


Subject(s)
Neoplasms/psychology , Stress, Psychological/psychology , Adolescent , Adult , Aged , Female , Health Services Needs and Demand , Humans , Italy , Male , Middle Aged , Needs Assessment , Social Support , Surveys and Questionnaires , Young Adult
9.
J Alzheimers Dis ; 61(3): 1179-1187, 2018.
Article in English | MEDLINE | ID: mdl-29332048

ABSTRACT

BACKGROUND: Several genetic variants playing a key role in cholesterol levels, blood pressure, and vascular dysfunction influence the risk of Alzheimer's disease (AD) and vascular dementia (VaD). The many meta-analysis studies carried out on large numbers of samples in different populations have not provided clear results to date, because a trans-ethnic shift of risk genotypes in different populations is often observed. OBJECTIVES: To determine genotypes allele frequencies of the polymorphisms most frequently identified to be correlated with cardio-cerebrovascular disease and AD in a Southern Italy population and to investigate their possible association with dementia. METHODS: The genotype and allele frequencies of 13 cardio-cerebrovascular risk polymorphisms were assessed and their possible association with dementia was investigated in a case-control study, including 221 consecutive unrelated subjects diagnosed with dementia (120 subjects affected by AD, 55 by frontotemporal dementia, and 33 by vascular dementia) and 218 matched controls of Calabrian origin. RESULTS: Carriers of at least one APOEɛ4 allele resulted to be at higher risk of AD [OR(95% CI) = 2.721(1.477-5.011)] and VaD [OR(95% CI) = 6.205(2.356-16.342)] compared to non-carriers. Individuals with the IV genotype of the CETP polymorphism were more likely to have AD [OR(95% CI) = 2.427(1.364-4.319)] and VaD [OR(95% CI) = 3.649(1.455-9.152)] compared to subjects with the II-VV genotypes. CONCLUSION: CETP I405V polymorphism is likely a risk factor for AD and VaD in our cohort, independent of APOEɛ4 status. Unmodifiable genetic risk factors should be taken into account to promote a healthy lifestyle to prevent dementia.


Subject(s)
Alzheimer Disease/genetics , Apolipoprotein E4/genetics , Cholesterol Ester Transfer Proteins/genetics , Dementia, Vascular/genetics , Frontotemporal Dementia/genetics , Aged , Aged, 80 and over , Case-Control Studies , Cohort Studies , Female , Gene Frequency , Humans , Italy , Male , Middle Aged , Polymorphism, Genetic , Risk Factors
10.
Support Care Cancer ; 26(2): 329-332, 2018 02.
Article in English | MEDLINE | ID: mdl-29043460

ABSTRACT

PURPOSE: The purpose of this study was to evaluate the effectiveness of a specific adapted physical activity (APA) protocol on upper limb disability and quality of life in breast cancer survivors and to assess longitudinally the possible role of APA on long-term benefits. METHODS: Breast cancer survivors from an Italian cohort were assessed by fitness tests (shoulder-arm mobility, range of motion, and back flexibility) before and after 8-week APA. Quality of life and back and surgical shoulder pain intensity were evaluated by Short Form-12 and numerical rating scale questionnaires, respectively. At 1.5-year post-APA follow-up, survivors were evaluated as at baseline/post-APA to assess long-term effects. RESULTS: A statistically significant improvement in shoulder-arm mobility, pain perception, and quality of life was observed in breast cancer survivors after APA intervention. Longitudinal analyses indicated an overall decrease in the achieved benefits at 1.5-year post-APA. CONCLUSIONS: The survivorship phase of breast cancer requires a multidisciplinary collaboration involving either the cancer-care medical team or APA professionals to manage psychophysical outcomes. A specific APA protocol may represent an effective countermeasure to reduce post-treatment upper limb disability and improve the quality of life in breast cancer survivors. Participation in structured APA protocols should be maintained over time to preserve the achieved benefits.


Subject(s)
Breast Neoplasms/rehabilitation , Cancer Survivors , Disabled Persons/rehabilitation , Exercise Therapy/methods , Precision Medicine/methods , Quality of Life , Upper Extremity/pathology , Aged , Breast Neoplasms/physiopathology , Cohort Studies , Exercise/physiology , Female , Humans , Italy , Longitudinal Studies , Middle Aged , Range of Motion, Articular/physiology , Shoulder/physiology , Surveys and Questionnaires , Upper Extremity/injuries
11.
Tumori ; 104(4): 285-291, 2018 Aug.
Article in English | MEDLINE | ID: mdl-28478643

ABSTRACT

PURPOSE: Assessing patients' unmet supportive care needs is essential in order to prioritize areas of cancer care that require improvement. The aim of the present cross-sectional study was to compare the unmet needs of cancer patients in different stages of the disease and care process (diagnosis, treatments following diagnosis, follow-up and/or rehabilitation, relapse/recurrence, progression of the disease, and palliative care). METHODS: The research focused on patients from 7 oncology units of the same geographic region (Tuscany, a region of central Italy) in the same period of time regardless of primary tumor site. A total of 752 patients filled in the Needs Evaluation Questionnaire and the Psychological Distress Inventory. RESULTS: We observed high rates of cancer patients who expressed unmet needs, especially in the areas of information and relational and material needs. The multiple regression models showed a direct correlation between psychological distress and extent of unmet needs. Individual unmet needs had significantly different entities at diverse phases. CONCLUSIONS: The present study confirmed the dynamic nature of needs of cancer patients, highlighting some critical aspects in different stages of the care process on which to concentrate attention and resources and suggesting the usefulness of periodic and repeated assessments of principal needs.


Subject(s)
Health Services Needs and Demand , Needs Assessment , Neoplasms/epidemiology , Adult , Aged , Female , Humans , Male , Middle Aged , Surveys and Questionnaires , Survivors
12.
Neurobiol Aging ; 56: 213.e7-213.e12, 2017 08.
Article in English | MEDLINE | ID: mdl-28532646

ABSTRACT

We identified the novel PSEN1 pathogenic mutation M84V in 3 patients belonging to a large kindred affected by autosomal dominant Alzheimer's disease (AD). The clinical phenotype was characterized by early onset dementia in 14 affected subjects over 3 generations. Detailed clinical, imaging and genetic assessment was performed. We highlighted the presence of unusual symptoms such as frontal executive syndrome, psychosis and spastic paraparesis in these patients. Spastic paraparesis has been reported in other PSEN1 mutations in adjacent codons, suggesting that the position of the genetic defect may affect the clinical expression, although this phenotype can occur in mutations throughout the whole PSEN1 gene. Brain magnetic resonance imaging showed diffuse cortical atrophy, but also atrophy of cerebellar lobules, mainly involving Crus I, in 2 patients without cerebellar motor deficits. These neuroimaging results were consistent with recent findings about the association between sporadic AD and distinct and circumscribed cerebellar atrophy. The present work acknowledged the novel PSEN1 pathogenic mutation M84V and might contribute to the ongoing debate about the involvement of cerebellum in AD.


Subject(s)
Alzheimer Disease/genetics , Cerebellum/pathology , Executive Function , Genes, Dominant/genetics , Genetic Association Studies , Genetic Predisposition to Disease/genetics , Mutation , Paraparesis, Spastic/genetics , Presenilin-1/genetics , Aged , Alzheimer Disease/diagnostic imaging , Alzheimer Disease/pathology , Alzheimer Disease/psychology , Atrophy , Cerebellum/diagnostic imaging , Cerebral Cortex/diagnostic imaging , Cerebral Cortex/pathology , Female , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Neuroimaging , Paraparesis, Spastic/diagnostic imaging , Pedigree , Psychotic Disorders/diagnostic imaging , Psychotic Disorders/genetics , Syndrome
13.
J Alzheimers Dis ; 55(3): 1249-1259, 2017.
Article in English | MEDLINE | ID: mdl-27792009

ABSTRACT

BACKGROUND: Several neurological and systemic diseases can cause dementia, beyond Alzheimer's disease. Rare genetic causes are often responsible for dementia with atypical features. Recently, mutations causative for Niemann-Pick type C disease (NPC) have also been implicated in neurodegenerative diseases. NPC is an autosomal recessive lipid storage disorder caused by mutations in NPC1 and NPC2 genes. In adults, clinical presentation mimicking other neurodegenerative diseases makes diagnosis difficult. Recent evidence suggests that heterozygous mutations in NPC genes may take on etiological significance. OBJECTIVE: To investigate the presence of NPC1 and NPC2 mutations in adults affected by neurodegenerative dementia plus. METHODS: We performed a genetic screening on 50 patients using a wide clinical and biochemical approach to characterize the phenotype of mutated patients. RESULTS: Sequencing analysis revealed four different and known heterozygous mutations in NPC1 and NPC2 genes. Patient 1 carried the p. F284LfsX26 in NPC1 and was affected by progressive supranuclear palsy-like syndrome. The remaining three patients showed a corticobasal syndrome and harbored the c.441+1G>A variant of NPC2 (patient 2), the missense p.N222 S mutation associated with the c.1947+8G>C variant in the splice region of intron 12 in NPC1 (patient 3), and the p.V30M mutation in NPC2 (patient 4), respectively. Filipin staining was abnormal in patients 1 and 2. mRNA analysis revealed an altered splicing of the NPC2 gene in patient 2. CONCLUSIONS: Heterozygous mutations of NPC1 and NPC2 genes could contribute to dementia plus, at least in a subset of patients. We highlight the occurrence of NPC1 and NPC2 heterozygous variants in dementia-plus as pathological event.


Subject(s)
Carrier Proteins/genetics , Dementia/genetics , Glycoproteins/genetics , Membrane Glycoproteins/genetics , Mutation/genetics , Aged , Animals , Brain/diagnostic imaging , DNA Mutational Analysis , Dementia/diagnostic imaging , Dementia/pathology , Female , Humans , Intracellular Signaling Peptides and Proteins , Magnetic Resonance Imaging , Male , Middle Aged , Niemann-Pick C1 Protein , Tomography, Emission-Computed, Single-Photon , Vesicular Transport Proteins
14.
Tumori ; 102(1): 96-102, 2016.
Article in English | MEDLINE | ID: mdl-26797934

ABSTRACT

PURPOSE: Patients treated for head and neck cancer present some of the most significant posttreatment morbidity of any group of patients with cancer. Our aim is to describe quality of life and psychological distress after different treatments among head and neck cancer patients during the first year after treatment. METHODS: A total of 86 patients treated for head and neck cancer were evaluated within 1 year of the end of treatment by means of the Distress Thermometer (DT) and EORTC C30 and H&N35 questionnaires. Type of treatment was classified into 3 groups: surgery, chemo-/radiotherapy, and combined treatment. RESULTS: Forty-one percent of patients showed a high level of distress (DT >5). Distress was higher in patients with a tracheotomy or with previous cancer in another district. Quality of life was homogeneous across treatment types after adjustment for stage and time since end of treatment, except for higher levels of suffering related to sensory problems, social eating, and dry mouth among patients treated with combined therapy. CONCLUSIONS: The DT and EORTC questionnaires proved to be effective and easy tools to monitor distress and quality of life in patients with head and neck cancer. Monitoring the quality of life perceived by each patient during his/her course of treatment could be useful in planning the rehabilitation process while performing follow-up visits.


Subject(s)
Head and Neck Neoplasms/psychology , Head and Neck Neoplasms/therapy , Quality of Life , Stress, Psychological/etiology , Adult , Aged , Appetite/drug effects , Appetite/radiation effects , Combined Modality Therapy , Constipation/etiology , Deglutition Disorders/etiology , Diarrhea/etiology , Dyspnea/etiology , Eating , Fatigue/etiology , Female , Head and Neck Neoplasms/complications , Head and Neck Neoplasms/physiopathology , Health Status , Humans , Male , Middle Aged , Nausea/etiology , Pain/etiology , Self Report , Sexual Behavior/drug effects , Sexual Behavior/radiation effects , Sleep Initiation and Maintenance Disorders/etiology , Speech Disorders/etiology
15.
Neurology ; 84(22): 2266-73, 2015 Jun 02.
Article in English | MEDLINE | ID: mdl-25948718

ABSTRACT

OBJECTIVE: To report, for the first time, a large autosomal dominant Alzheimer disease (AD) family in which the APP A713T mutation is present in the homozygous and heterozygous state. To date, the mutation has been reported as dominant, and in the heterozygous state associated with familial AD and cerebrovascular lesions. METHODS: The family described here has been genealogically reconstructed over 6 generations dating back to the 19th century. Plasma ß-amyloid peptide was measured. Sequencing of causative AD genes was performed. RESULTS: Twenty-one individuals, all but 1 born from 2 consanguineous unions, were studied: 8 were described as affected through history, 5 were studied clinically and genetically, and 8 were asymptomatic at-risk subjects. The A713T mutation was detected in the homozygous state in 3 patients and in the heterozygous state in 8 subjects (6 asymptomatic and 2 affected). CONCLUSIONS: Our findings, also supported by the ß-amyloid plasma assay, confirm (1) the pathogenic role of the APP A713T mutation, (2) the specific phenotype (AD with cerebrovascular lesions) associated with this mutation, and (3) the large span of age at onset, not influenced by APOE, TOMM40, and TREM2 genes. No substantial differences concerning clinical phenotype were evidenced between heterozygous and homozygous patients, in line with the classic definition of dominance. Therefore, in this study, AD followed the classic definition of a dominant disease, contrary to that reported in a previously described AD family with recessive APP mutation. This confirms that genetic AD may be considered a disease with dominant and recessive traits of inheritance.


Subject(s)
Alzheimer Disease/diagnosis , Alzheimer Disease/genetics , Amyloid beta-Protein Precursor/genetics , Heterozygote , Homozygote , Mutation/genetics , Aged , Female , Humans , Male , Middle Aged , Pedigree
16.
J Phys Act Health ; 11(4): 814-22, 2014 May.
Article in English | MEDLINE | ID: mdl-23575310

ABSTRACT

BACKGROUND: Physical activity interventions are known to be effective in improving the physical and psychological complaints of breast cancer survivors. PURPOSE: To investigate the impact of a specific exercise training program on upper limb mobility and quality of life in breast cancer survivors. METHODS: The study included 55 women recruited at the Cancer Rehabilitation Centre in Florence after the completion of breast cancer treatment and rehabilitative physiotherapy. All participants underwent an 8-week specific exercise training to improve upper limb mobility function and quality of life. Anthropometric parameters were measured, and each subject underwent a battery of fitness tests to assess shoulder-arm mobility, range of motion, and back flexibility before and after specific exercise program. All participants filled out the Short Form-12 and numerical rating scale questionnaires to assess the quality of life and to quantify back and shoulder pain intensity. RESULTS: The evaluation of shoulder-arm mobility and self-reported questionnaire data revealed a statistically significant improvement after completion of our specific exercise program. CONCLUSION: An organized specific program of adapted physical activity can be effective in reducing the main adverse effects of surgery and oncological therapy, and may significantly improve shoulder-arm mobility and quality of life in breast cancer survivors.


Subject(s)
Breast Neoplasms/complications , Exercise Therapy/methods , Postoperative Complications/rehabilitation , Quality of Life , Range of Motion, Articular , Upper Extremity/physiopathology , Adult , Aged , Breast Neoplasms/psychology , Breast Neoplasms/surgery , Breast Neoplasms/therapy , Chemoradiotherapy, Adjuvant/adverse effects , Exercise Therapy/psychology , Female , Humans , Italy , Lymphedema/etiology , Lymphedema/psychology , Lymphedema/rehabilitation , Middle Aged , Postoperative Complications/physiopathology , Postoperative Complications/psychology , Regression Analysis , Surveys and Questionnaires , Survivors/psychology
17.
J Pain Symptom Manage ; 47(1): 26-34, 2014 Jan.
Article in English | MEDLINE | ID: mdl-23916679

ABSTRACT

CONTEXT: In Italy, data regarding the use of complementary therapies (CTs) among patients with cancer are sparse and discordant. OBJECTIVES: The present study aimed to investigate the demographic and psychological characteristics of Italian cancer patients who use CTs and the perceived benefit of users. METHODS: Eight hundred three patients from six Italian oncology departments were interviewed about CT use and completed two questionnaires to explore psychological distress and the resilience trait called sense of coherence (SOC). Patients included in the study had different primary tumor sites and were in different phases of the disease and care process. RESULTS: At the time of measurement, 37.9% of patients were using one or more types of CTs. The most commonly used CTs were diets and dietary supplements (27.5%), herbs (10.8%), homeopathy (6.4%), and mind-body therapies (5.5%). The Italian context is characterized by a high percentage of patients who informed their physicians about CT use (66.3%) and who experienced benefits (89.6%); 75.2% of the patients had used CTs in the past. Multivariate analysis revealed that young, female patients, who previously used complementary and alternative medicine in the past, appear more likely to use at least one type of CT in the present. Predictors of the use of CTs varied according to the type of CT. Among psychological factors, SOC was positively associated with both past and present CT use. CONCLUSION: Overall prevalence of CTs among Italian cancer patients is high and is in accordance with the European average. In addition to clinical and sociodemographic factors, the resilience trait SOC also was associated with CT use.


Subject(s)
Complementary Therapies , Neoplasms/epidemiology , Neoplasms/therapy , Adolescent , Adult , Age Factors , Aged , Anxiety/epidemiology , Female , Humans , Interviews as Topic , Italy/epidemiology , Logistic Models , Male , Middle Aged , Neoplasms/psychology , Prevalence , Sense of Coherence , Sex Factors , Socioeconomic Factors , Surveys and Questionnaires , Young Adult
18.
Support Care Cancer ; 21(9): 2381-6, 2013 Sep.
Article in English | MEDLINE | ID: mdl-23564074

ABSTRACT

BACKGROUND: Combining medical and psychological knowledge and accompanying patients in an individualised path, the Oncological Rehabilitation Centre of Florence (CeRiOn) aims at offering effective integrated rehabilitation interventions and at reducing psychological distress in cancer patients. In the present observational study, we measured the psychological distress at baseline and at the end of the completed rehabilitation processes. METHODS: A total number of 627 cancer patients were treated by the psycho-oncological service at CeRiOn in 2007-2010. Among them, 99 (all women) participated in more than or equal to three sessions, were followed up for clinical and life status for at least 1 year and had a formal conclusion of their psychological rehabilitation process. For 98 cases, both a baseline and a follow-up measure of distress, by the Psychological Distress Inventory (PDI) and the Distress Thermometer (DT), were available. RESULTS: Relevant before-after amelioration in this selected group of psychologically, highly suffering cancer patients has been shown. Almost all the patients (except 20%) received both group and individual psychological support. The average rehabilitation process lasted 1.7 years. Average distress evaluation decreased from a baseline of 34.7 to 26.4 (P < 0.001) according to PDI and from 5.9 to 2.2 according to DT (P < 0.001). CONCLUSIONS: On average, quite a long psychological support time was necessary to complete the rehabilitation process. During this period, patients who had a formal conclusion of the psychological support received at CeRiOn showed a significant reduction of their distress.


Subject(s)
Breast Neoplasms/psychology , Breast Neoplasms/rehabilitation , Critical Pathways , Rehabilitation Centers , Social Support , Stress, Psychological/psychology , Adaptation, Psychological , Adult , Breast Neoplasms/surgery , Counseling , Female , Follow-Up Studies , Humans , Middle Aged , Neoplasm Recurrence, Local/psychology , Neoplasm Recurrence, Local/rehabilitation , Neoplasm Recurrence, Local/surgery , Treatment Outcome
19.
J Matern Fetal Neonatal Med ; 25 Suppl 1: 47-50, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22372677

ABSTRACT

Nitric oxide (NO) is a cellular signaling molecule and a powerful vasodilator. NO modulates basal pulmonary vascular tone and it is important to reduce blood pressure and to treat hypoxemic respiratory failure, such as persistent pulmonary hypertension (PPHN) in newborns. PPHN is defined as a failure of normal pulmonary vascular adaptation at or soon after birth, resulting in a persisting high pulmonary vascular resistance. iNO therapy decreases the need of extracorporeal membrane oxygenation (ECMO) although it did not reduce mortality of these patients. Severe meconial aspiration syndrome is associated with PPHN, resulting in severe hypoxemia; iNO administration combined with HFV results in ameliorate oxygenation. The cause of hypoxemic respiratory failure in patients with congenital diaphragmatic hernia (CDH) is complex. CDH patients experienced oxygenation improvement after iNO therapy, but they can be often considered iNO poor responders. In some cases iNO therapy can reduce the need of ECMO in presurgical stabilization. The pathophysiology of respiratory failure and the potential risks differ substantially in preterm infants. Pulmonary hypertension can complicate respiratory failure in preterm babies. Current evidence does not support use of iNO in early routine, early rescue or layer rescue regimens in the care of preterm infants.


Subject(s)
Asphyxia Neonatorum/drug therapy , Nitric Oxide/administration & dosage , Persistent Fetal Circulation Syndrome/drug therapy , Administration, Inhalation , Humans , Infant, Newborn , Nitric Oxide/metabolism
20.
J Matern Fetal Neonatal Med ; 25 Suppl 1: 125-7, 2012 Apr.
Article in English | MEDLINE | ID: mdl-22320395

ABSTRACT

Therapeutic hypothermia is a recognized treatment for term infants with hypoxic-ischemic encephalopathy (HIE) in reducing rate of death or neurodevelopmental disabilities. Little is known about applications of this treatment to preterm newborns. Studies in animal experimental models demonstrated the efficacy of hypothermia in preterm fetuses but clinical application to newborn infants are limited to restricted cases, as severe necrotizing enterocolitis (NEC). We present a case of therapeutic whole body cooling in a baby at 34 weeks and 6 days of gestational age with HIE.


Subject(s)
Hypothermia, Induced , Hypoxia-Ischemia, Brain/therapy , Infant, Premature, Diseases/therapy , Animals , Female , Humans , Infant, Newborn , Infant, Premature , Male , Pregnancy , Young Adult
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