Identification of 16p11.2 deletion syndrome on a child inpatient psychiatric unit: A case report and call for inpatient genetic testing.

PURPOSE: This case highlights the importance of nursing-directed interprofessional treatment and inpatient unit genetic testing to identify genetic syndromes that may potentiate psychiatric conditions. SOURCES USED: A case study of a 10-year-old Caucasian male with a history of a congenital heart defect, hand malformation, and low academic functioning who was admitted to the child inpatient psychiatric unit for eloping from school, aggression, and possible psychotic symptoms. Data were collected using patient medical records and interprofessional evaluation from nursing, psychiatry, and occupational therapy. RESULTS: The patient was treated with risperidone to manage psychotic symptoms. Dietary, occupational therapy, and scholastic plans were also implemented. After discharge, results of genetic microarray analysis revealed a Type 1 16p11.2 deletion. CONCLUSION: The role of nursing, interprofessional collaboration, and access to consultation teams play a crucial role in patient care for early diagnosis and treatment. Inpatient genetic testing has the potential to quickly identify and diagnose previously unidentified symptom clusters, leading to early intervention, closer monitoring, and improved patient outcomes.

Factors associated with committed participation in a wellness-walking program for people with lower limb loss: A prospective cohort study.

BACKGROUND:: Wellness activities can benefit health, yet committed adherence is challenging. OBJECTIVES:: Identify factors associated with committed participation in an amputee wellness-walking program and determine benefits of committed participation. STUDY DESIGN:: Prospective longitudinal cohort. METHODS:: Two former Paralympians led the wellness-walking sessions. Participants provided medical history and self-reported balance confidence and prosthetic functional measures. Physiotherapy professionals/paraprofessionals assessed balance and gait. Committed participants-those attending three sessions within 3 years-were compared to one-time-only participants using Fisher's exact and independent t-tests. First and third sessions for committed participants were compared with t-tests. A bootstrapped multivariable logistic regression model was developed using significant univariate predictors. RESULTS:: A total of 305 volunteers averaged 55.7 ± 15.2 years, including 68.4% men, 78.4% White race; 51.8% with dysvascular amputations, 40.5% with ⩾1 prosthetic knee; and 49.1% independent community walkers. Committed participants were initially similar to one-time-only participants ( p > 0.05) except for fewer years since amputation ( p = 0.007), better balance ability ( p = 0.001), and greater likelihood of dieting ( p = 0.030). The final model-balance ability (odds ratio = 2.4), dieting (odds ratio = 3.3), and years since amputation (odds ratio = 0.94)-identified 88.0% of committed participants ( p = 0.007). Balance confidence and functional improvements after three sessions were not significant ( p > 0.07). CONCLUSION:: Committed participants were more likely to diet, have better balance ability, and have more recent amputations than one-time-only participants. CLINICAL RELEVANCE: Knowing which characteristics identify people most likely to become committed participants-such as people with recent amputations, an interest in dieting, and better balance ability-may help health practitioners from different professions promote consistent participation in wellness activities that may benefit self-reported function.

Use of the Houghton Scale to Classify Community and Household Walking Ability in People With Lower-Limb Amputation: Criterion-Related Validity.

OBJECTIVE: To examine the criterion-related validity of using the self-reported Houghton Scale to classify community-dwelling people with lower-limb amputation according to the suggested score ranges for independent community (Houghton Scale score ≥9), household and limited community (Houghton Scale scores 6-8), and limited household (Houghton Scale score ≤5) walking ability categories as referenced to performance-based balance ability and walking speed criteria. DESIGN: Cross-sectional cohort study. SETTING: Community-based wellness walking programs in 8 states in the Mid-Atlantic, Midwest, and Southeast regions of the U.S. PARTICIPANTS: Volunteers (N=180; 66.5% men, n=118; mean age, 55.5±16y) 7.1±13.1 years since amputation, with transtibial-level amputation in 47% (n=79) and amputation caused by vascular disease in 49.4% (n=89). INTERVENTIONS: None. MAIN OUTCOME MEASURES: Self-reported data: Houghton Scale, Prosthetic Evaluation Questionnaire mobility subscale, and Activities-specific Balance Confidence (ABC) Scale. Clinical performance-based measures: balance ability assessed with 3 Berg Balance Scale (BBS) items and walking ability assessed with the timed Up and Go (TUG) test and 2-minute walk test (2MWT). The primary reference criteria were performance-based balance ability measured with the 3 BBS items and gait speed calculated from the 2MWT. RESULTS: On the Houghton Scale, 45.9% (78/170) of the participants scored ≥9, 30.6% (52/170) of the participants scored between 6 and 8, and 23.5% (40/170) of the participants scored ≤5. The Houghton Scale correlated with the Prosthetic Evaluation Questionnaire mobility subscale (r=.73), ABC Scale (r=.76), balance ability (r=.67), TUG test (r=-.67), and 2MWT (r=.73). The 3 Houghton Scale ability categories differed significantly from each other (P<.05) for all outcome measures: Prosthetic Evaluation Questionnaire mobility subscale, ABC Scale, balance ability, TUG test, and 2MWT. CONCLUSIONS: The Houghton Scale demonstrated criterion-related validity by differentiating community-dwelling people with lower-limb amputation into community, limited community/household, and household ability categories that corresponded to performance-based balance and walking criteria. Average prosthetic walking speeds for each category compared with similar walking ability categories defined in other patient populations.

Health status in the Caribbean: has the Faculty of Medical Sciences made a difference?

The Faculty of Medical Sciences has contributed to improvements in health status in the Caribbean through its research, training, and service and outreach programmes. Basic and applied research has yielded important scientific data and information that has guided health care, resulting in decrease in morbidity and mortality. Physicians graduating from its undergraduate programme and successfully completing its graduate programmes, and nurse and other professionals trained in the Faculty, are widely dispersed throughout the Caribbean and, together with Faculty staff members, have collaborated with others to formulate and implement health policies, and to provide the facilities for health education and promotion, and for the care of ill patients. Outreach programmes include organising and/or participating in projects, conferences, workshops or consultations for or with countries or organisations. Collaboration and partnership for all these activities have been important. The problems and challenges are discussed, with an outline of some of the plans being employed to resolve them.(AU)

The contribution of the Faculty of Medicine, UWI, to health over the last 50 years

The Faculty has contributed to improvements in health care through its research, training, service and outreach programmes. Basic and applied research in malnutrition, vomiting sickness, veno-occlusive disease, infectious diseases, family planning, sickle cell disease, antenatal care, and many others has yielded important scientific data, and information that has guided health care. Service work includes organisation of and participation in health education and promotion, and in the clinical, laboratory, radiological and other services in institutions linked to the Faculty. Outreach programmes have ranged from response to disasters, to organising and/or participating in special projects for countries, to participation of the faculty and/or individual staff members in conferences, workshops and consultations with appropriate authorities. 3,746 medical graduates and 1,147 medical specialist have been trained; 722 nurses have been awarded certificates, and 134 baccalaureates, in Nursing Administration or Education; 188 health professionals have received the Masters, and 38 the Diploma in Public Health, and nearly 300 the Diploma in Community Health. Staff members have helped to train nurses, laboratory technologists, pharmacists, physiotherapists, radiographers, and other health professionals. These people have been or are involved in research; formulation and implementation of health policy; health education and promotion; and diagnosis, treatment and rehabilitation of patients. They therefore supplement and/or contribute to the Faculty's activities. However, there have also been some shortcomings in the Faculty's response to some of the regional problems, and it is important to address these and the new challenges.(AU)

Health effects of human T-lymphotropic virus type I (HTLV-I) in a Jamaican cohort

BACKGROUND: Other than adult T-cell leukaemia (ATL) and HTLV-I associated myelopathy (HAM), the health effects of infection with human T-lymphotropic virus type I (HTLV-I) are not well defined. METHOD: A cohort of 201 confirmed HTLV-I seropositive Jamaican food service workers and 225 seronegative controls of similar age and sex from the same population was examined. A health questionnaire, physical examination, and laboratory tests were performed at enrollment into the cohort in 1987-1988. RESULTS: One of 201 HTLV-I seropositives, but no controls were diagnosed with HAM, for a prevalence of 0.5 percent (95 percent confidence interval) (CI) 0.01-2.7 percent); no cases of ATL were diagnosed. While there was no difference in current symptoms, the HTLV-I seropositive group was more likely to report a past medical history of hepatitis or jaundice (OR = 3.49, 95 percent CI: 0.93-13.08), malaria (OR = 2.13, 95 percent CI: 0.96-4.73), and dengue fever (OR = 1.37, 95 percent CI 0.82-2.29); however, these differences were of borderline statistical significance. Low income HTLV-I seropositive women had lower body weight (P , 0.01) and body mass index (P < 0.009) than their seronegative counterparts; similar differences were seen in the smaller male group. A trend toward higher prevalence of severe anaemia (haemoglobin < 10 g/dl) (12.6 percent verus 7.7 percent, P < 0.105) and a significantly lower prevalence of eosinophilia (1.0 percent verus 6.3 percent, P < 0.004) was seen among HTLV-I seropositives are asymptomatic, HAM may be diagnosed in approximately 0.5 percent of carriers. Chronic HTLV-I infection may also subtle effects on body mass and haematological parameters.(AU)

A case-control study of risk factors for seropositivity to human T-lymphotropic virus type I (HTLV-I) in Jamaica

BACKGROUND: We investigated behavioural and environmental risk factors for seropositivity to human T-lymphotropic virus type I (HTLV-I). METHODS: A nested case-control study of 201 HTLV-I seropositive subjects and 225 age and sex matched seronegative controls was performed using questionaire data from the enrollment visit of a cohort study in 1987-1988. HTLV-I serostatus was confirmed using enzyme-linked imunosorbent assay (ELISA) and Western blot. RESULTS: Among women, the number of lifetime sexual partners (P < 0.05, chi 2 trend) and the number of different men fathering a child by the woman (P < 0.06, chi 2 trend) were associated with HTLV-I seropositivity. Use by the female subject of an intrauterine device (IUD) was associated with an increased risk of seropositivity (odds ratio (OR) = 2.67, 95 percent confidence interval (CI): 1.13-6.23); condom use was rare in this population. Among male subjects, a larger number of lifetime sexual partners was also associated with HTLV-I seropositivity (P < 0.05, chi 2 trend). No association was found between HTLV-I seropositivity and educational attainment, income, or occupation. Having been breastfed as a child or receipt of a blood transfusion had elevated but imprecise OR due to very high and low prevalence of the risk factors, respectively. Several variables relating to insect or animal exposure showed no association with HTLV-I seropositivity. CONCLUSIONS: These data confirm that heterosexual intercourse is a major route of HTLV-I transmission, but do not support suggestions of insect or environmental vectors.(AU)

Clinical aspects of blood transfusion in adults

The transfusion of blood or blood products may be life-saving or may reduce morbidity but also carries risks. Therefore, it should be prescribed only when it is clearly indicated, after a careful assessment of the benefits and risks for the patient. The pattern of blood usage in developing countries differs from that in developed countries. This reflects the better infrastructure (e.g. availability of safe water and adequate sanitation), public health services and more sophisticated health systems in developed countries, and the prevalence of some hereditary haematological disorders in developing countries. There are also differences in usage among developing countries, with the pattern in a small group similar to that of developed countries. In this paper we discuss the indications and the precedures for transfusion of blood and blood products, and outline the complications of haemotherapy and methods for avoiding or correcting them at the time of transfusion or afterwards (AU)

Frequency of HLA A, B and C antigens in haematological malignancies in Jamaica - abstract

Our first paper on HLA showed the distribution of the HLA antigens in the Jamaican population and compared the gene frequencies obtained by other workers studying other racial groups. In this paper we use our first study as the basis for examination of disease associations. A flotation density method was used to separate lymphocytes from the peripheral blood of patients attending the University Hospital Haematology Clinic and HLA typing performed using the micro lymphocytotoxicity technique. One hundred and twenty-three patients with varying haematological malignancies were studied. Non-Hodgkin's lymphoma - 70, multiple myeloma - 11, hodgkin's disease - 8, acute myeloid leukaemia - 3, Chronic myeloid leukaemia - 3, acute lymphoblastic leukaemia - 11, chronic lymphocytic leukaemia - 17. We were unable to show any significant association between any of the HLA antigens identified and the haematological malignancies studied. The possible link with the AýB12 haplotype that some workers have reported was not supported by our findings. The most prevalent antigens in this group were mostly the antigens found to be the most prevalent in the 'normal' study group. Of significance, however, were the high frequency of the Cw7 antigen in the myeloma patients and the fact that the Cw4 antigen was almost absent from this group although this antigen shows highest frequency for any antigen for any of the groups tested and is also very high frequency in the normal population. The small number (11) of myeloma patients in this study made it difficult to state a clear association. We look forward to a study of larger numbers of myeloma patients in order to investigate what appears to be an association (AU)

Guidelines for the organization of a blood transfusion service / edited by W. N. Gibbs, A. F. H. Britten / Pautas para la organización de un servicio de transfusión de sangre / L' Organisation d' un service de transfusion sanguine : principes directeurs

A comprehensive guide to the principles and procedures involved in establishing or reorganizing a national blood transfusion service in developing countries. Focusedon organizational principles rather than technical details, the book responds to both the growing clinical need for safe and effective blood products and the many problems inherent in the organization of a transfusion service. Guidelines and advice draw upon several clear examples of successes and failures taken from international experiences in the difficult process of establishing a new transfusion service. The objective is to provide information to decision-makers and planners on how to develop a correctly organized scheme of management, select equipment, establish standard procedures, and train staff so as to provide an adequate supply of blood and blood products which are as safe as possible and accessible at reasonable cost. To this end, cost-saving options are presented together with clear indications of areas where expense is inevitable and no short-cuts are possible. The book has nine chapters. The first introduces the main functions, responsibilities, and organizational options of a national transfusion service. Information includes a discussion of the importance of following a policy of voluntary blood donation, an outline of the strengths and weaknesses of different systems for organizing a transfusion service, and advice on how to calculate the staff needs and operating costs of a service. Readers are reminded that a blood transfusion service is an expensive and complex organization, that careful design and management are essential, and that a scheme for meeting recurrent costs needs to be in place. Subsequent chapters outline the guiding principles for planning a donor recruitment programme and discuss the procedures to be followed during blood collection. Details range from the simple observation that a U-shaped arrangement of donation beds increases staff efficiency to a series of 15 questions that can help ensure the safety of both donors and recipients. Of particular value is a chapter devoted to the screening of blood for hepatitis, AIDS, syphilis and yaws, malaria, Chagas disease, cytomegalovirus, and other transmissible diseases. Other chapters outline the organizational procedures that should guide the production of laboratory reagents at the national or regional level, the selection of methods for blood-grouping and compatibility testing, and the acquisition of basic equipment and consumables, moving from refrigerators and centrifuges to pipettes and marking pens. The book concludes with guidelines for quality assurance and biosafety, followed by an outline of clinical indications for the use of whole blood, red cells, plasma, platelets, cryoprecipitate, factor VIII concentrate, factor IX complex, albumin, and immunoglobulins