scholarly journals Evaluation and Management of Early Onset Genetic Obesity in Childhood

2021 ◽  
Author(s):  
Sonali Malhotra ◽  
Ramya Sivasubramanian ◽  
Gitanjali Srivastava
Keyword(s):  
Severe Obesity ◽  
Wide Spectrum ◽  
Genetic Disorders ◽  
Treatment Strategies ◽  
Multidisciplinary Care ◽  
The United States ◽  
Management Options ◽  
Syndromic Obesity ◽  
Investigational Drugs ◽  
Surgical Options

AbstractOne in five children and adolescents in the United States are diagnosed with obesity and nearly 6% of them are being classified under the severe obesity category. With over 7% of severe obesity being attributed to genetic disorders, in this review we aim to focus on monogenic and syndromic obesity: its etiology, wide spectrum of clinical presentation, criticalness of early identification, and limited management options. Advanced genetic testing methods including microarray and whole genome sequencing are imperative to identify the spectrum of mutations and develop targeted treatment strategies including personalized multidisciplinary care, use of investigational drugs, and explore surgical options in this unique subset of severe pediatric obesity.

Models of Comprehensive Multidisciplinary Care for Individuals in the United States With Genetic Disorders

PEDIATRICS ◽  
2009 ◽  
Vol 123 (1) ◽  
pp. 407-412 ◽  
Author(s):  
S. D. Grosse ◽  
M. S. Schechter ◽  
R. Kulkarni ◽  
M. A. Lloyd-Puryear ◽  
B. Strickland ◽  
...  
Keyword(s):  
United States ◽  
Genetic Disorders ◽  
Multidisciplinary Care ◽  
The United States

Vascular birthmarks

VASA ◽  
2008 ◽  
Vol 37 (1) ◽  
pp. 5-17 ◽  
Author(s):  
Willenberg ◽  
Baumgartner
Keyword(s):  
Vascular Malformations ◽  
Treatment Strategies ◽  
Multidisciplinary Care ◽  
High Flow ◽  
Low Flow ◽  
Management Options ◽  
Benign Neglect ◽  
Current Availability ◽  
History Of ◽  
Vascular Birthmarks

Vascular birthmarks can be classified into hemangioma and vascular malformations. Hemangioma are frequent tumours of early infancy demonstrating endothelial hyperplasia, a history of rapid neonatal growth and slow involution during later childhood. Treatment of hemangioma is dependent of stage and type of the lesion. Given the current availability of drugs, lasers, and other techniques to treat hemangioma safely, philosophy of "benign neglect" should not be considered anymore. Vascular malformations show a normal endothelial turnover, being present at birth and growing commensurately with the child. Exact diagnosis by employing modern diagnostic means, which are able to differentiate low-flow from high flow lesions is important for further therapeutic management. Beside conservative treatment strategies, use of laser, sclerotherapy, interventional embolization and surgical treatment are possible management options. Patients should receive multidisciplinary care in qualified vascular centres.

scholarly journals MECHANISMS IN ENDOCRINOLOGY: Update on treatments for patients with genetic obesity

2020 ◽  
Vol 183 (5) ◽  
pp. R149-R166
Author(s):  
C Poitou ◽  
H Mosbah ◽  
K Clément
Keyword(s):  
Complex Disease ◽  
Severe Obesity ◽  
Multidisciplinary Care ◽  
Epigenetic Factors ◽  
Genetic Obesity ◽  
Molecular Alterations ◽  
Syndromic Obesity ◽  
Innovative Therapies ◽  
Uncertain Outcomes ◽  
Access To Food

Obesity, defined by an excess of body fat impacting on health, is a complex disease resulting from the interaction between many genetic/epigenetic factors and environmental triggers. For some clinical situations with severe obesity, it has been possible to classify these obesity forms according to the molecular alterations. These include: (i) syndromic obesity, which associates severe early-onset obesity with neurodevelopmental disorders and/or polymalformative syndrome and (ii) non-syndromic monogenic obesity, due to gene variants most often located in the leptin-melanocortin pathway. In addition to severe obesity, patients affected by these diseases display complex somatic conditions, eventually including obesity comorbidities, neuropsychological and psychiatric disorders. These conditions render the clinical management of these patients particularly challenging. Patients’ early diagnosis is critical to allow specialized and multidisciplinary care, with a necessary interaction between the health and social sectors. Up to now, the management of genetic obesity was only based, above all, on controlling the patient's environment, which involves limiting access to food, ensuring a reassuring daily eating environment that limits impulsiveness, and the practice of adapted, supported, and supervised physical activity. Bariatric surgery has also been undertaken in genetic obesity cases with uncertain outcomes. The context is rapidly changing, as new innovative therapies are currently being tested both for syndromic and monogenic forms of obesity. This review focuses on care management and new therapeutic opportunities in genetic obesity, including the use of the melanocortin 4 agonist, setmelanotide. The results from ongoing trials will hopefully pave the way to a future precision medicine approach for genetic obesity.

Multidisciplinary Evidence to Treat Bilingual Individuals with Aphasia

2008 ◽  
Vol 15 (3) ◽  
pp. 66-72 ◽  
Author(s):  
José G. Centeno
Keyword(s):  
Stroke Rehabilitation ◽  
Culturally Diverse ◽  
Treatment Strategies ◽  
The United States ◽  
Intervention Strategies ◽  
Steady Increase ◽  
Clinical Procedures ◽  
Bilingual Speakers ◽  
Aphasic Clients

Abstract The steady increase in linguistic and cultural diversity in the country, including the number of bilingual speakers, has been predicted to continue. Minorities are expected to be the majority by 2042. Strokes, the third leading cause of death and the leading cause of long-term disability in the U.S., are quite prevalent in racial and ethnic minorities, so population estimates underscore the imperative need to develop valid clinical procedures to serve the predicted increase in linguistically and culturally diverse bilingual adults with aphasia in post-stroke rehabilitation. Bilingualism is a complex phenomenon that interconnects culture, cognition, and language; thus, as aphasia is a social phenomenon, treatment of bilingual aphasic persons would benefit from conceptual frameworks that exploit the culture-cognition-language interaction in ways that maximize both linguistic and communicative improvement leading to social re-adaptation. This paper discusses a multidisciplinary evidence-based approach to develop ecologically-valid treatment strategies for bilingual aphasic individuals. Content aims to spark practitioners' interest to explore conceptually broad intervention strategies beyond strictly linguistic domains that would facilitate linguistic gains, communicative interactions, and social functioning. This paper largely emphasizes Spanish-English individuals in the United States. Practitioners, however, are advised to adapt the proposed principles to the unique backgrounds of other bilingual aphasic clients.

Fidelity and Its Relationship to Implementation Effectiveness, Adaptation, and Dissemination

2017 ◽  
Author(s):  
Jennifer D. Allen ◽  
Rachel C. Shelton ◽  
Karen M. Emmons ◽  
Laura A. Linnan
Keyword(s):  
Public Health ◽  
Treatment Strategies ◽  
Implementation Fidelity ◽  
Population Level ◽  
The United States ◽  
Dissemination And Implementation ◽  
Evidence Based ◽  
Health Gains ◽  
Significant Public Health ◽  
Research Continuum

There is substantial variability in the implementation of evidence-based interventions across the United States, which leads to inconsistent access to evidence-based prevention and treatment strategies at a population level. Increased dissemination and implementation of evidence-based interventions could result in significant public health gains. While the availability of evidence-based interventions is increasing, study of implementation, adaptation, and dissemination has only recently gained attention in public health. To date, insufficient attention has been given to the issue of fidelity. Consideration of fidelity is necessary to balance the need for internal and external validity across the research continuum. There is also a need for a more robust literature to increase knowledge about factors that influence fidelity, strategies for maximizing fidelity, methods for measuring and analyzing fidelity, and examining sources of variability in implementation fidelity.

scholarly journals Best Practices in Specialized Amyloidosis Centers in the United States: A Survey of Cardiologists, Nurses, Patients, and Patient Advocates

2021 ◽  
Vol 15 ◽  
pp. 117954682110152
Author(s):  
Jose Nativi-Nicolau ◽  
Nitasha Sarswat ◽  
Johana Fajardo ◽  
Muriel Finkel ◽  
Younos Abdulsattar ◽  
...  
Keyword(s):  
Best Practices ◽  
Patient Care ◽  
Nurse Practitioners ◽  
Healthcare Providers ◽  
Multidisciplinary Care ◽  
The United States ◽  
Comprehensive Care ◽  
Patient Support ◽  
Patient Support Group ◽  
Patient Advocates

Background: Because transthyretin amyloid cardiomyopathy (ATTR-CM) poses unique diagnostic and therapeutic challenges, referral of patients with known or suspected disease to specialized amyloidosis centers is recommended. These centers have developed strategic practices to provide multidisciplinary comprehensive care, but their best practices have not yet been well studied as a group. Methods: A qualitative survey was conducted by telephone/email from October 2019 to February 2020 among eligible healthcare providers with experience in the management of ATTR-CM at US amyloidosis centers, patients with ATTR-CM treated at amyloidosis centers, and patient advocates from amyloidosis patient support groups. Results: Fifteen cardiologists and 9 nurse practitioners/nurses from 15 selected amyloidosis centers participated in the survey, with 16 patients and 4 patient advocates. Among participating healthcare providers, the most frequently cited center best practices were diagnostic capability, multidisciplinary care, and time spent on patient care; the greatest challenges involved coordination of patient care. Patients described the “ideal” amyloidosis program as one that provides physicians with expertise in ATTR-CM, sufficient time with patients, comprehensive patient care, and opportunities to participate in research/clinical trials. The majority of centers host patient support group meetings, and patient advocacy groups provide support for centers with physician/patient education and research. Conclusions: Amyloidosis centers offer comprehensive care based on staff expertise in ATTR-CM, a multidisciplinary approach, advanced diagnostics, and time dedicated to patient care and education. Raising awareness of amyloidosis centers’ best practices among healthcare providers can reinforce the benefits of early referral and comprehensive care for patients with ATTR-CM.

scholarly journals New Insights into the Pathogenesis of Systemic Mastocytosis

2021 ◽  
Vol 22 (9) ◽  
pp. 4900
Author(s):  
Zhixiong Li
Keyword(s):  
Molecular Mechanisms ◽  
Kinase Inhibitor ◽  
Systemic Mastocytosis ◽  
Treatment Strategies ◽  
The United States ◽  
European Medicines Agency ◽  
Myeloid Neoplasm ◽  
Organ Systems ◽  
United States Food ◽  
Kit D816v

Mastocytosis is a type of myeloid neoplasm characterized by the clonal, neoplastic proliferation of morphologically and immunophenotypically abnormal mast cells that infiltrate one or more organ systems. Systemic mastocytosis (SM) is a more aggressive variant of mastocytosis with extracutaneous involvement, which might be associated with multi-organ dysfunction or failure and shortened survival. Over 80% of patients with SM carry the KIT D816V mutation. However, the KIT D816V mutation serves as a weak oncogene and appears to be a late event in the pathogenesis of mastocytosis. The management of SM is highly individualized and was largely palliative for patients without a targeted form of therapy in past decades. Targeted therapy with midostaurin, a multiple kinase inhibitor that inhibits KIT, has demonstrated efficacy in patients with advanced SM. This led to the recent approval of midostaurin by the United States Food and Drug Administration and European Medicines Agency. However, the overall survival of patients treated with midostaurin remains unsatisfactory. The identification of genetic and epigenetic alterations and understanding their interactions and the molecular mechanisms involved in mastocytosis is necessary to develop rationally targeted therapeutic strategies. This review briefly summarizes recent developments in the understanding of SM pathogenesis and potential treatment strategies for patients with SM.

scholarly journals Exotic Haemaphysalis longicornis (Acari: Ixodidae) in the United States: Biology, Ecology, and Strategies for Management

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Brittany L Schappach ◽  
Rayda K Krell ◽  
Victoria L Hornbostel ◽  
Neeta P Connally
Keyword(s):  
United States ◽  
Vector Competence ◽  
The United States ◽  
United States Department ◽  
Haemaphysalis Longicornis ◽  
Life Stages ◽  
Department Of Agriculture ◽  
Management Options ◽  
Significant Public Health ◽  
Multiple Pathogens

Abstract The Asian longhorned tick (ALT), Haemaphysalis longicornis Neumann (Acari: Ixodidae), is a three-host tick that was first detected outside of United States Department of Agriculture (USDA) quarantine in Hunterdon County, New Jersey, in 2017 and subsequently found in another 14 states. In its native Asia, and where it has become established in Australia and New Zealand, ALTs feed on a variety of hosts and are economically important livestock pests and competent vectors of multiple pathogens to humans and other animals. The degree to which ALT will become a persistent livestock pest or competent vector for introduced or existing pathogens in the United States is yet unclear. Because of its vast host availability, ability to reproduce asexually, known vector competence, and the presence of multiple life stages on hosts, the expansion of ALT establishment in the United States is expected, and is a significant public health and veterinary concern. In this paper, we discuss the biology, geographical distribution, life cycle and seasonal activity, reproduction, identification, medical and veterinary implications, management options, and future concerns in the United States.

Multiattribute Analysis and the Concept of Optimum Yield

1984 ◽  
Vol 41 (9) ◽  
pp. 1393-1406 ◽  
Author(s):  
M. C. Healey
Keyword(s):  
Decision Analysis ◽  
Fisheries Management ◽  
Social Factors ◽  
The United States ◽  
Operational Definition ◽  
Clupea Harengus ◽  
Management Options ◽  
Optimum Yield ◽  
Wide Range ◽  
Skeena River

This paper reviews the origin and operational definition of the optimum yield (OY) concept and demonstrates how techniques of decision analysis can provide an analytical model for OY. The concept of OY was formalized as the guiding principle of fisheries management in the United States and Canada in 1976. The policies of both countries make it clear that a wide range of biological, economic, and social factors are to be taken into account in determining OY. Confusion exists, however, about precisely which of these factors should determine OY in any fishery and what is their relative importance. Uncertainty also exists about how to take biological, economic, and social factors jointly into account as the concept of OY implies one must. Established biological and economic models in fisheries are not adequate for such an analysis because their focus is single- rather than multi-objective. Operational techniques of decision analysis, such as multiattribute utility analysis, are specifically designed to deal with multiobjective problems like OY. I propose that a simple, linear, utility model be used to assess the optimality of alternative yield strategies in fisheries management. I illustrate the application of the model by assessing OY options in the New England herring (Clupea harengus) fishery and the Skeena River salmon (Oncorhynchus spp.) fishery. The advantages of the model are that it is simple and intuitively appealing, that it permits a wide range of types and qualities of data to be incorporated into the evaluation of management options, that it is amenable to sensitivity analysis, and that it is adaptable to a variety of decision rules.

scholarly journals Primary immune deficiencies with defects in neutrophil function

Hematology ◽  
2016 ◽  
Vol 2016 (1) ◽  
pp. 43-50 ◽  
Author(s):  
Mary C. Dinauer
Keyword(s):  
Fungal Infections ◽  
Leukocyte Adhesion ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Treatment Strategies ◽  
Adaptor Protein ◽  
Invasive Fungal Disease ◽  
Neutrophil Function ◽  
Microbial Pathogens ◽  
Immune Deficiencies

Abstract Immune deficiencies resulting from inherited defects in neutrophil function have revealed important features of the innate immune response. Although sharing an increased susceptibility to bacterial and fungal infections, these disorders each have distinctive features in their clinical manifestations and characteristic microbial pathogens. This review provides an update on several genetic disorders with impaired neutrophil function, their pathogenesis, and treatment strategies. These include chronic granulomatous disease, which results from inactivating mutations in the superoxide-generating nicotinamide dinucleotide phosphate oxidase. Superoxide-derived oxidants play an important role in the control of certain bacterial and fungal species, and also contribute to the regulation of inflammation. Also briefly summarized are updates on leukocyte adhesion deficiency, including the severe periodontal disease characteristic of this disorder, and a new immune deficiency associated with defects in caspase recruitment domain–containing protein 9, an adaptor protein that regulates signaling in neutrophils and other myeloid cells, leading to invasive fungal disease.

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