Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 18 de 18
Filter
1.
Behav Med ; 49(1): 53-61, 2023.
Article in English | MEDLINE | ID: mdl-34847825

ABSTRACT

Incentives are a useful tool in encouraging healthy behavior as part of public health initiatives. However, there remains concern about motivation crowd out-a decline in levels of motivation to undertake a behavior to below baseline levels after incentives have been removed-and few public health studies have assessed for motivation crowd out. Here, we assess the feasibility of identifying motivation crowd out following a lottery to promote participation in a Chagas disease vector control campaign. We look for evidence of crowd out in subsequent participation in the same behavior, a related behavior, and an unrelated behavior. We identified potential motivation crowd out for the same behavior, but not for related behavior or unrelated behaviors after lottery incentives are removed. Despite some limitations, we conclude that motivation crowd out is feasible to assess in large-scale trials of incentives.


Subject(s)
Health Behavior , Motivation , Humans , Feasibility Studies , Peru
2.
PLOS Glob Public Health ; 2(8): e0000145, 2022.
Article in English | MEDLINE | ID: mdl-36962496

ABSTRACT

In Arequipa, Peru, a large-scale vector control campaign has successfully reduced urban infestations of the Chagas disease vector, Triatoma infestans. In addition to preventing new infections with Trypanosoma cruzi (etiological agent of Chagas disease), the campaign produced a wealth of information about the distribution and density of vector infestations. We used these data to create vector infestation risk maps for the city in order to target the last few remaining infestations, which are unevenly distributed and difficult to pinpoint. Our maps, which are provided on a mobile app, display color-coded, individual house-level estimates of T. infestans infestation risk. Entomologic surveillance personnel can use the maps to select homes to inspect based on estimated risk of infestation, as well as keep track of which parts of a given neighborhood they have inspected to ensure even surveillance throughout the zone. However, the question then becomes, how do we encourage surveillance personnel to actually use these two functionalities of the risk map? As such, we carried out a series of rolling trials to test different incentive schemes designed to encourage the following two behaviors by entomologic surveillance personnel in Arequipa: (i) preferential inspections of homes shown as high risk on the maps, and (ii) even surveillance across the geographical distribution of a given area, which we term, 'spatial coverage.' These two behaviors together constituted what we termed, 'optimal map use.' We found that several incentives resulted in one of the two target behaviors, but just one incentive scheme based on the game of poker resulted in optimal map use. This poker-based incentive structure may be well-suited to improve entomological surveillance activities and other complex multi-objective tasks.

3.
PLoS Negl Trop Dis ; 15(5): e0009414, 2021 05.
Article in English | MEDLINE | ID: mdl-34019548

ABSTRACT

In Latin America, there has been tremendous progress towards eliminating canine rabies. Major components of rabies elimination programs leading to these successes have been constant and regular surveillance for rabid dogs and uninterrupted yearly mass dog vaccination campaigns. Unfortunately, vital measures to control COVID-19 have had the negative trade-off of jeopardizing these rabies elimination and prevention activities. We aimed to assess the effect of interrupting canine rabies surveillance and mass dog vaccination campaigns on rabies trends. We built a deterministic compartment model of dog rabies dynamics to create a conceptual framework for how different disruptions may affect rabies virus transmission. We parameterized the model for conditions found in Arequipa, Peru, a city with active rabies virus transmission. We examined our results over a range of plausible values for R0 (1.36-2.0). Also, we prospectively evaluated surveillance data during the pandemic to detect temporal changes. Our model suggests that a decrease in canine vaccination coverage as well as decreased surveillance could lead to a sharp rise in canine rabies within months. These results were consistent over all plausible values of R0. Surveillance data from late 2020 and early 2021 confirms that in Arequipa, Peru, rabies cases are on an increasing trajectory. The rising rabies trends in Arequipa, if indicative to the region as whole, suggest that the achievements made in Latin America towards the elimination of dog-mediated human rabies may be in jeopardy.


Subject(s)
COVID-19/epidemiology , Dog Diseases/epidemiology , Mass Vaccination/veterinary , Pandemics , Rabies virus/immunology , Rabies/epidemiology , SARS-CoV-2/physiology , Animals , COVID-19/virology , Disease Eradication , Dog Diseases/prevention & control , Dog Diseases/virology , Dogs , Humans , Latin America/epidemiology , Peru/epidemiology , Rabies/prevention & control , Rabies/virology , Rabies Vaccines/administration & dosage , Vaccination Coverage
4.
Nat Commun ; 12(1): 2274, 2021 04 15.
Article in English | MEDLINE | ID: mdl-33859196

ABSTRACT

Massive unemployment during the COVID-19 pandemic could result in an eviction crisis in US cities. Here we model the effect of evictions on SARS-CoV-2 epidemics, simulating viral transmission within and among households in a theoretical metropolitan area. We recreate a range of urban epidemic trajectories and project the course of the epidemic under two counterfactual scenarios, one in which a strict moratorium on evictions is in place and enforced, and another in which evictions are allowed to resume at baseline or increased rates. We find, across scenarios, that evictions lead to significant increases in infections. Applying our model to Philadelphia using locally-specific parameters shows that the increase is especially profound in models that consider realistically heterogenous cities in which both evictions and contacts occur more frequently in poorer neighborhoods. Our results provide a basis to assess eviction moratoria and show that policies to stem evictions are a warranted and important component of COVID-19 control.


Subject(s)
COVID-19/transmission , Communicable Disease Control/methods , Housing/legislation & jurisprudence , Pandemics/prevention & control , Policy , COVID-19/economics , COVID-19/epidemiology , COVID-19/virology , Cities/legislation & jurisprudence , Cities/statistics & numerical data , Communicable Disease Control/legislation & jurisprudence , Computer Simulation , Housing/economics , Humans , Models, Statistical , Philadelphia/epidemiology , SARS-CoV-2/pathogenicity , Unemployment/statistics & numerical data , Urban Population/statistics & numerical data
5.
medRxiv ; 2021 Jan 19.
Article in English | MEDLINE | ID: mdl-33140067

ABSTRACT

Massive unemployment during the COVID-19 pandemic could result in an eviction crisis in US cities. Here we model the effect of evictions on SARS-CoV-2 epidemics, simulating viral transmission within and among households in a theoretical metropolitan area. We recreate a range of urban epidemic trajectories and project the course of the epidemic under two counterfactual scenarios, one in which a strict moratorium on evictions is in place and enforced, and another in which evictions are allowed to resume at baseline or increased rates. We find, across scenarios, that evictions lead to significant increases in infections. Applying our model to Philadelphia using locally-specific parameters shows that the increase is especially profound in models that consider realistically heterogenous cities in which both evictions and contacts occur more frequently in poorer neighborhoods. Our results provide a basis to assess municipal eviction moratoria and show that policies to stem evictions are a warranted and important component of COVID-19 control.

6.
Glob Health Sci Pract ; 8(4): 721-731, 2020 12 23.
Article in English | MEDLINE | ID: mdl-33361238

ABSTRACT

Childhood anemia remains a significant driver of morbidity in low- and middle-income countries, including Peru. To identify behavioral challenges to using micronutrient powder (MNP) that is given to supplement children's diets and prevent anemia, we applied a behavioral design approach to interviews and focus groups with 129 caregivers in Arequipa, Peru. We examined 3 key points in the decision-making process: accessing MNP through the health system; forming intentions to use MNP; and MNP use at the time of child feeding. Using the NUDGE (Narrow, Understand, Discover, Generate, Evaluate) approach, we identified the following behavioral barriers and facilitators: (1) caregivers' experiences with health care providers shaped their motivation to access MNP; (2) caregivers felt accessing MNP at clinics was inconvenient and created hassle factors; (3) caregivers' mental models about anemia prevention shaped MNP intentions and use; (4) caregivers' salient negative experiences could have caused them to stop giving MNP; (5) caregivers forgot to give MNP if they did not have cues to remind them but could be prompted with salient cues; and (6) caregivers were affected by emotional, cognitive, and attentional factors during feeding that were difficult to anticipate. Our results, based on a behavioral design approach, suggest opportunities to adapt current messaging, counseling, and education around MNP use. Adaptations include providing culturally relevant messages, leveraging caregivers' emotional and cognitive states, and encouraging small but impactful changes to feeding routines to address barriers to MNP use.


Subject(s)
Anemia , Micronutrients , Anemia/prevention & control , Child , Dietary Supplements , Humans , Infant , Infant Nutritional Physiological Phenomena , Peru , Powders
7.
medRxiv ; 2020 Aug 13.
Article in English | MEDLINE | ID: mdl-32817966

ABSTRACT

Over the past decades, there has been tremendous progress towards eliminating canine rabies in Latin America. Major components of rabies prevention programs in Latin America leading to these successes have been constant and intense surveillance for rabid dogs and uninterrupted yearly mass dog vaccination campaigns. However, vital measures to control COVID-19 in Latin America have had the negative trade-off of jeopardizing these rabies elimination and prevention activities. In this paper, we aimed to assess the effect of interrupting canine rabies surveillance and mass dog vaccination campaigns on rabies trends. We built a deterministic compartment model of dog rabies dynamics parameterized for conditions found in Arequipa, Peru, where there is an ongoing dog rabies epidemic. Our model suggests that a decrease in canine vaccination coverage as well as decreased surveillance leading to an increased length of survival of infected dogs could lead to a sharp rise in canine rabies and, subsequently, human rabies risk. We examined our results over the best estimate of the basic reproductive number in Arequipa (R0 = 1.44) and a range of plausible values for R0 (1.36 - 2). The rising trend was consistent. It is very possible that COVID-19 will continue to challenge our public health departments in the short- and medium-term. Innovative strategies to conduct dog vaccination and rabies surveillance during these trying times should be considered to safeguard the achievements made in Latin America towards the elimination of dog-mediated human rabies.


En las últimas décadas ha habido un tremendo progreso hacia la eliminación de la rabia canina en América Latina. Los principales componentes de los programas de prevención de la rabia en América Latina que condujeron a estos éxitos han sido la vigilancia constante e intensa de los perros con rabia y las campañas anuales de vacunación masiva ininterrumpida. Sin embargo, las medidas esenciales para controlar el COVID-19 en América Latina han tenido el balance negativo de poner en peligro estas actividades de prevención y eliminación de rabia. En este artículo, nuestro objetivo fue evaluar el efecto que la interrupción de la vigilancia de la rabia canina y las campañas de vacunación masiva de perros tendría en las tendencias de la rabia. Modelamos la dinámica de la rabia canina mediante un modelo determinístico de comportamientos parametrizado para las condiciones que se encuentran en Arequipa, Perú, donde hay una epidemia de rabia canina en curso. Nuestro modelo sugiere que una disminución en la cobertura de vacunación canina, así como una disminución en la vigilancia (que llevaría a una mayor supervivencia de los perros infectados), podría llevar a un aumento súbito de rabia canina y, seguidamente, del riesgo de rabia humana. Examinamos nuestros resultados sobre la mejor estimación del número reproductivo básico en Arequipa (R0 = 1.44) y un rango de valores plausibles para R0 (1.36 ­ 2). La tendencia al alza fue consistente. Es muy posible que el COVID-19 continúe desafiando a nuestros departamentos de salud pública a corto y mediano plazo. Por lo tanto, deben considerarse estrategias innovadoras para llevar a cabo la vacunación de perros y la vigilancia de la rabia durante estos tiempos difíciles para salvaguardar los logros alcanzados en América Latina hacia la eliminación de la rabia humana mediada por perros.

8.
Am J Trop Med Hyg ; 103(3): 1247-1257, 2020 09.
Article in English | MEDLINE | ID: mdl-32662391

ABSTRACT

Since its reintroduction in 2015, rabies has been established as an enzootic disease among the dog population of Arequipa, Peru. Given the unknown rate of dog bites, the risk of human rabies transmission is concerning. Our objective was to estimate the rate of dog bites in the city and to identify factors associated with seeking health care in a medical facility for wound care and rabies prevention follow-up. To this end, we conducted a door-to-door survey with 4,370 adults in 21 urban and 21 peri-urban communities. We then analyzed associations between seeking health care following dog bites and various socioeconomic factors, stratifying by urban and peri-urban localities. We found a high annual rate of dog bites in peri-urban communities (12.4%), which was 2.6 times higher than that in urban areas (4.8%). Among those who were bitten, the percentage of people who sought medical treatment was almost twice as high in urban areas (39.1%) as in peri-urban areas (21.4%).


Subject(s)
Bites and Stings/epidemiology , Dog Diseases/epidemiology , Patient Acceptance of Health Care/statistics & numerical data , Rabies Vaccines/therapeutic use , Rabies/epidemiology , Socioeconomic Factors , Adult , Animals , Bites and Stings/virology , Demography , Dog Diseases/virology , Dogs , Epidemiological Monitoring , Female , Health Facilities , Humans , Male , Middle Aged , Peru/epidemiology , Post-Exposure Prophylaxis/statistics & numerical data , Rabies/virology , Risk , Surveys and Questionnaires , Urban Population , Zoonoses
9.
Prev Med ; 126: 105762, 2019 09.
Article in English | MEDLINE | ID: mdl-31271816

ABSTRACT

Despite the successes of financial incentives in increasing uptake of evidence-based interventions, acceptability is polarized. Given widespread interest in the use of financial incentives, we update findings from Giles and colleagues' 2015 systematic review (n = 81). The objectives of this systematic review are to identify what is known about financial incentives directed to patients for health-related behavior change, assess how acceptability varies, and address which aspects and features of financial incentives are potentially acceptable and not acceptable, and why. PRISMA guidelines were used for searching peer-reviewed journals across 10 electronic databases. We included empirical and non-empirical papers published between 1/1/14 and 6/1/18. After removal of duplicates, abstract screening, and full-text reviews, 47 papers (n = 31 empirical, n = 16 scholarly) met inclusion criteria. We assessed empirical papers for risk of bias and conducted a content analysis of extracted data to synthesize key findings. Five themes related to acceptability emerged from the data: fairness, messaging, character, liberty, and tradeoffs. The wide range of stakeholders generally preferred rewards over penalties, vouchers over cash, smaller values over large, and certain rewards over lotteries. Deposits were viewed unfavorably. Findings were mixed on acceptability of targeting specific populations. Breastfeeding, medication adherence, smoking cessation, and vaccination presented as more complicated incentive targets than physical activity, weight loss, and self-management. As researchers, clinicians, and policymakers explore the use of financial incentives for challenging health behaviors, additional research is needed to understand how acceptability influences uptake and ultimately health outcomes.


Subject(s)
Health Behavior , Health Promotion/economics , Health Promotion/methods , Motivation , Cost-Benefit Analysis , Gift Giving/ethics , Humans
10.
Implement Sci ; 14(1): 111, 2019 12 30.
Article in English | MEDLINE | ID: mdl-31888673

ABSTRACT

BACKGROUND: Despite impressive reductions in infectious disease burden within Sub-Saharan Africa (SSA), half of the top ten causes of poor health or death in SSA are communicable illnesses. With emerging and re-emerging infections affecting the region, the possibility of healthcare-acquired infections (HAIs) being transmitted to patients and healthcare workers, especially nurses, is a critical concern. Despite infection prevention and control (IPC) evidence-based practices (EBP) to minimize the transmission of HAIs, many healthcare systems in SSA are challenged to implement them. The purpose of this review is to synthesize and critique what is known about implementation strategies to promote IPC for nurses in SSA. METHODS: The databases, PubMed, Ovid/Medline, Embase, Cochrane, and CINHAL, were searched for articles with the following criteria: English language, peer-reviewed, published between 1998 and 2018, implemented in SSA, targeted nurses, and promoted IPC EBPs. Further, 6241 search results were produced and screened for eligibility to identify implementation strategies used to promote IPC for nurses in SSA. A total of 61 articles met the inclusion criteria for the final review. The articles were evaluated using the Joanna Briggs Institute's (JBI) quality appraisal tools. Results were reported using PRISMA guidelines. RESULTS: Most studies were conducted in South Africa (n = 18, 30%), within the last 18 years (n = 41, 67%), and utilized a quasi-experimental design (n = 22, 36%). Few studies (n = 14, 23%) had sample populations comprising nurses only. The majority of studies focused on administrative precautions (n = 36, 59%). The most frequent implementation strategies reported were education (n = 59, 97%), quality management (n = 39, 64%), planning (n = 33, 54%), and restructure (n = 32, 53%). Penetration and feasibility were the most common outcomes measured for both EBPs and implementation strategies used to implement the EBPs. The most common MAStARI and MMAT scores were 5 (n = 19, 31%) and 50% (n = 3, 4.9%) respectively. CONCLUSIONS: As infectious diseases, especially emerging and re-emerging infectious diseases, continue to challenge healthcare systems in SSA, nurses, the keystones to IPC practice, need to have a better understanding of which, in what combination, and in what context implementation strategies should be best utilized to ensure their safety and that of their patients. Based on the results of this review, it is clear that implementation of IPC EBPs in SSA requires additional research from an implementation science-specific perspective to promote IPC protocols for nurses in SSA.


Subject(s)
Health Plan Implementation/methods , Infection Control/methods , Infectious Disease Transmission, Patient-to-Professional/prevention & control , Nurses , Africa South of the Sahara , Humans
11.
J Neurol Sci ; 375: 471-473, 2017 Apr 15.
Article in English | MEDLINE | ID: mdl-28109580

ABSTRACT

Friedreich Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder most commonly caused by guanine-adenine-adenine (GAA) trinucleotide repeat expansions in both alleles of the FXN gene. Although progressive ataxia remains the hallmark clinical feature, patients with FRDA are at high risk of developing cardiomyopathy, often resulting in premature death. There is no specific treatment for FRDA-associated cardiomyopathy; even in advanced cardiac failure cardiac transplantation is not commonly pursued. This case series describes extended follow-up of three FRDA cases with end-stage heart failure but mild neurologic disease who underwent successful heart transplantation. We also review and examine the ethical considerations for heart transplantation in the setting of neurodegenerative disease.


Subject(s)
Cardiomyopathies/etiology , Cardiomyopathies/surgery , Friedreich Ataxia/complications , Heart Transplantation/methods , Adult , Friedreich Ataxia/genetics , Friedreich Ataxia/surgery , Humans , Longitudinal Studies , Male , Trinucleotide Repeat Expansion/genetics
12.
Ann Clin Transl Neurol ; 3(9): 684-94, 2016 09.
Article in English | MEDLINE | ID: mdl-27648458

ABSTRACT

OBJECTIVE: Friedreich ataxia (FRDA) is a progressive neurodegenerative disorder of adults and children. This study analyzed neurological outcomes and changes to identify predictors of progression and generate power calculations for clinical trials. METHODS: Eight hundred and twelve subjects in a natural history study were evaluated annually across 12 sites using the Friedreich Ataxia Rating Scale (FARS), 9-Hole Peg Test, Timed 25-Foot Walk, visual acuity tests, self-reported surveys and disability scales. Cross-sectional outcomes were assessed from recent visits, and longitudinal changes were gaged over 5 years from baseline. RESULTS: Cross-sectional outcomes correlated with measures of disease severity. Age, genetic severity (guanine-adenine-adenine [GAA] repeat length), and testing site predicted performance. Serial progression was relatively linear using FARS and composite measures of performance, while individual performance outcomes were nonlinear over time. Age strongly predicted change from baseline until removing the effects of baseline FARS scores, when GAA becomes a more important factor. Progression is fastest in younger subjects and subjects with longer GAA repeats. Improved coefficients of variation show that progression results are more reproducible over longer assessment durations. INTERPRETATION: While age predicted progression speed in simple analyses and may provide an effective way to stratify cohorts, separating the effects of age and genetic severity is difficult. Controlling for baseline severity, GAA is the major determinant of progression rate in FRDA. Clinical trials will benefit from enrollment of younger subjects, and sample size requirements will shrink with longer assessment periods. These findings should prove useful in devising gene therapy trials in the near future.

13.
J Child Neurol ; 31(9): 1161-5, 2016 08.
Article in English | MEDLINE | ID: mdl-27071470

ABSTRACT

Friedreich ataxia is a progressive degenerative disease with neurologic and cardiac involvement. This study characterizes comorbid medical conditions in a large cohort of patients with Friedreich ataxia. Patient diagnoses were collected in a large natural history study of 641 subjects. Prevalence of diagnoses in the cohort with Friedreich ataxia was compared with prevalence in the population without Friedreich ataxia. Ten patients (1.6%) had inflammatory bowel disease, 3.5 times more common in this cohort of individuals with Friedreich ataxia than in the general population. Four subjects were growth hormone deficient, reflecting a prevalence in Friedreich ataxia that is 28 times greater than the general population. The present study identifies specific diagnoses not traditionally associated with Friedreich ataxia that are found at higher frequency in this disease. These associations could represent coincidence, shared genetic background, or potentially interactive disease mechanisms with Friedreich ataxia.


Subject(s)
Friedreich Ataxia/complications , Friedreich Ataxia/epidemiology , Growth Hormone/deficiency , Inflammatory Bowel Diseases/complications , Inflammatory Bowel Diseases/epidemiology , Adolescent , Adult , Child , Child, Preschool , Cohort Studies , Comorbidity , Friedreich Ataxia/drug therapy , Humans , Inflammatory Bowel Diseases/drug therapy , Prevalence , Young Adult
14.
BMC Neurol ; 16: 3, 2016 Jan 12.
Article in English | MEDLINE | ID: mdl-26755195

ABSTRACT

BACKGROUND: Friedreich Ataxia (FRDA) is a neurodegenerative disorder characterized by gait and balance abnormalities, sensory loss, weakness, loss of reflexes, and ataxia. Previously, two cases of FRDA and Nephrotic Syndrome (NS) have been reported. Here we report two additional individuals with NS and FRDA, providing further evidence for a possible connection between the two diseases and focusing on the neuromuscular responsiveness of one individual to corticosteroid treatment, an effect not previously described in FRDA. CASE PRESENTATIONS: We describe two patients with FRDA also presenting with NS. The first patient was diagnosed with FRDA at age 5 and NS at age 7 following the development of periorbital edema, abdominal swelling, problems with urination, and weight gain. The second patient was diagnosed with NS at age 2 after presenting with periorbital edema, lethargy, and abdominal swelling. He was diagnosed with FRDA at age 10. Nephrotic syndrome was confirmed by laboratory testing in both cases and both individuals were treated with corticosteroids. CONCLUSIONS: Nephrotic syndrome may occur in individuals with FRDA, but was not associated with myoclonic epilepsy in our patients as previously described. It is unlikely that this association is coincidental given the rarity of both conditions and the association of NS with mitochondrial disease in model systems, though coincidental coexistence is possible. One patient showed neurological improvement following steroid treatment. Although neurological improvement could be attributed to the treatment of NS, we also identified some degree of steroid responsiveness in a series of patients with FRDA but without NS.


Subject(s)
Friedreich Ataxia/physiopathology , Nephrotic Syndrome/physiopathology , Adolescent , Adrenal Cortex Hormones/administration & dosage , Adrenal Cortex Hormones/pharmacology , Adult , Comorbidity , Female , Friedreich Ataxia/drug therapy , Friedreich Ataxia/epidemiology , Humans , Male , Nephrotic Syndrome/drug therapy , Nephrotic Syndrome/epidemiology
15.
Am J Med Genet A ; 167A(2): 331-44, 2015 Feb.
Article in English | MEDLINE | ID: mdl-25428759

ABSTRACT

Angelman syndrome (AS) is a neurogenetic disorder. The goal of this study was to investigate the primary health issues affecting adults with AS and to further characterize the natural history and genotype-phenotype correlations. Standardized phone interviews with caregivers for 110 adolescents and adults with AS were conducted. The impact of age, sex, and genotype on specific outcomes in neurology, orthopedics, internal medicine, and psychiatry were investigated. The mean age of individuals with AS was 24 years (range 16-50y). Active seizures were present in 41% of individuals, and 72% had sleep dysfunction. Significant constipation was present in 85%, and 32% were overweight or obese, with obesity disproportionately affecting women. Scoliosis affected 50% with a mean age at diagnosis of 12 years, and 24% of those diagnosed with scoliosis required surgery, an intervention disproportionately affecting men. Sixty-eight percent were able to walk independently, and 13% were able to speak 5 or more words. Self-injurious behavior was exhibited in 52% of individuals. The results of this study indicate that epilepsy severity may assume a bimodal age distribution: seizures are typically most severe in early childhood but may recur in adulthood. While late-adolescent and adult sleep patterns were improved when compared to the degree of sleep dysfunction present during infancy and childhood, the prevalence of poor sleep in adults remained quite high. Primary areas of clinical management identified include the following: seizures, sleep, aspiration risk, GERD, constipation, dental care, vision, obesity, scoliosis, bone density, mobility, communication, behavior, and anxiety.


Subject(s)
Angelman Syndrome/epidemiology , Activities of Daily Living , Adolescent , Adult , Angelman Syndrome/diagnosis , Angelman Syndrome/genetics , Canada/epidemiology , Cohort Studies , Databases, Factual , Female , Humans , Male , Middle Aged , Mutation , Puerto Rico/epidemiology , Ubiquitin-Protein Ligases/genetics , Uniparental Disomy , United States/epidemiology , Young Adult
17.
Am J Med Genet A ; 164A(6): 1438-42, 2014 Jun.
Article in English | MEDLINE | ID: mdl-24668795

ABSTRACT

Congenital lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of the mammalian target of rapamycin (mTOR) pathway. The aim of this study is to review cases of lymphedema in a large cohort of TSC patients. The medical records of 268 patients seen at The Herscot Center for Children and Adults with Tuberous Sclerosis Complex at the Massachusetts General Hospital from 2002 to 2012 were retrospectively reviewed for reports of lymphedema or edema of unknown etiology. Genotypic and phenotypic data were collected in accordance with institutional review board (IRB) approval. This cohort presents two new cases of congenital lymphedema in TSC patients and acquired lymphedema was found in eight additional cases. Thus, we report 10 new cases of lymphedema in TSC (4%). The two patients with congenital lymphedema were female, as were the previous six reported cases. The frequency of lymphedema reported here (4%) is higher than the estimated prevalence in the general population (0.133-0.144%), suggesting a higher frequency of lymphedema in TSC. This study shows that patients with TSC and lymphedema are more likely to be females with renal AMLs and suggests that congenital lymphedema is a gender-specific (female) manifestation of TSC. Exploration of the potential role of mTOR antagonists may be important in treatment of lymphedema in TSC patients.


Subject(s)
Lymphedema/epidemiology , Lymphedema/genetics , TOR Serine-Threonine Kinases/genetics , Tuberous Sclerosis/pathology , Tumor Suppressor Proteins/genetics , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Lymphedema/complications , Male , Middle Aged , Retrospective Studies , Tuberous Sclerosis/epidemiology , Tuberous Sclerosis/genetics , Tuberous Sclerosis Complex 2 Protein
18.
Ann Clin Psychiatry ; 25(4): 243-9, 2013 Nov.
Article in English | MEDLINE | ID: mdl-23926580

ABSTRACT

BACKGROUND: Patients with tuberous sclerosis complex (TSC) have high rates of psychiatric comorbidity, including mood and anxiety disorders. The aim of this study is to identify patients with stressor-related disorders such as posttraumatic stress disorder (PTSD) or adjustment disorder (AD) and to describe their clinical picture in the setting of TSC. METHODS: Retrospective review of medical charts of TSC patients referred for a stressor-related disorder to a TSC psychiatric clinic. RESULTS: We identified 7 females and 2 males (3 PTSD, 6 AD), including 4 children. Two patients with severe intellectual disability presented with aggression and the remaining patients presented with avoidance. The mean duration of symptoms at the time of the study was 21 months (range: 7 to 48 months) and 7 of the 9 patients still were having trauma-related symptoms. All the patients who received an initial diagnosis of AD had their diagnosis changed to another category because their symptoms lasted >6 months. In most cases, selective serotonin reuptake inhibitors improved the symptoms. CONCLUSIONS: Stressor-related disorders in TSC frequently linger beyond 6 months and may appear with triggering events that typically are not viewed as trauma in a normal population.


Subject(s)
Adjustment Disorders/physiopathology , Stress Disorders, Post-Traumatic/physiopathology , Tuberous Sclerosis/physiopathology , Adjustment Disorders/diagnosis , Adjustment Disorders/epidemiology , Adolescent , Adult , Child , Comorbidity , Female , Humans , Male , Middle Aged , Retrospective Studies , Stress Disorders, Post-Traumatic/diagnosis , Stress Disorders, Post-Traumatic/epidemiology , Time Factors , Tuberous Sclerosis/epidemiology , Young Adult
SELECTION OF CITATIONS
SEARCH DETAIL
...