Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 16 de 16
Filtrar
Más filtros

Bases de datos
Tipo del documento
País de afiliación
Intervalo de año de publicación
1.
Emerg Infect Dis ; 28(13): S145-S150, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-36502380

RESUMEN

Since 2013, the US Centers for Disease Control and Prevention has offered the Public Health Emergency Management Fellowship to health professionals from around the world. The goal of this program is to build an international workforce to establish public health emergency management programs and operations centers in participating countries. In March 2021, all 141 graduates of the fellowship program were invited to complete a web survey designed to examine their job roles and functions, assess their contributions to their country's COVID-19 response, and identify needs for technical assistance to strengthen national preparedness and response systems. Of 141 fellows, 89 successfully completed the survey. Findings showed that fellowship graduates served key roles in COVID-19 response in many countries, used skills they gained from the fellowship, and desired continuing engagement between the Centers for Disease Control and Prevention and fellowship alumni to strengthen the community of practice for international public health emergency management.


Asunto(s)
COVID-19 , Salud Pública , Estados Unidos/epidemiología , Humanos , COVID-19/prevención & control , Becas , Centers for Disease Control and Prevention, U.S. , Administración en Salud Pública
2.
J Public Health Manag Pract ; 28(1): E283-E290, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-33729200

RESUMEN

OBJECTIVE: We aimed to understand the current training environment for developing public health emergency response leaders and highlight facilitators and barriers in accessing targeted training. DESIGN: We designed 4 focus groups to gather organizational perspectives on public health emergency response leadership development. Discussions were recorded, transcribed, coded, and analyzed to synthesize key themes. SETTING: Focus groups were convened at the 2019 Preparedness Summit (March 27-28) in St Louis, Missouri. PARTICIPANTS: Twenty-three public health professionals from 9 Public Health Emergency Preparedness (PHEP) Cooperative Agreement award recipient jurisdictions and 12 local health departments participated. MAIN OUTCOME MEASURES: We examined the current availability, relevance, specificity, and utility of educational content and delivery modalities. Facilitators and barriers were identified as opportunities to improve training access. RESULTS: Generic emergency management training is considered important and widely available but with limited application in public health practice. Existing leadership training opportunities in public health emergency response are limited and not widely known. While organizational support and accessible training facilitate participation, resource constraints (ie, funding, time, and staff) exist as key barriers. In addition, frequent staff turnover and attrition that result in loss of institutional knowledge likely hinder effective public health emergency responses. CONCLUSION: Effective public health emergency response depends on capable leaders not only well versed in specialized technical disciplines and practices but also familiar with-or preferably fluent in-emergency management principles and functions. This study demonstrated that well-aimed training strategies and organizational planning are essential in developing public health emergency response leaders. Specifically, leadership development may accrue considerable benefit from a standardized training curriculum. In addition, scalable training programs developed through public, private, and academic partnerships may lessen resource demands on individual organizations to facilitate training access. Finally, training practicums (eg, mentoring, shadowing) may provide opportunities to facilitate active learning and preserve institutional knowledge through leadership transitions.


Asunto(s)
Defensa Civil , Liderazgo , Grupos Focales , Humanos , Salud Pública , Práctica de Salud Pública
3.
Emerg Infect Dis ; 26(5): 1022-1024, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-32310059

RESUMEN

We examined Zika-related inquiries to CDC-INFO, the national contact center for the Centers for Disease Control and Prevention, to identify potential communication gaps. The most frequently asked questions related to travel or geographic location of Zika (42% of all inquiries), information about laboratory testing (13%), or acquiring a Zika test (11%).


Asunto(s)
Complicaciones Infecciosas del Embarazo , Infección por el Virus Zika , Virus Zika , Centers for Disease Control and Prevention, U.S. , Comunicación , Femenino , Humanos , Embarazo , Viaje , Estados Unidos/epidemiología , Infección por el Virus Zika/epidemiología
4.
Am J Public Health ; 104(11): 2092-102, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25211748

RESUMEN

Disaster epidemiology (i.e., applied epidemiology in disaster settings) presents a source of reliable and actionable information for decision-makers and stakeholders in the disaster management cycle. However, epidemiological methods have yet to be routinely integrated into disaster response and fully communicated to response leaders. We present a framework consisting of rapid needs assessments, health surveillance, tracking and registries, and epidemiological investigations, including risk factor and health outcome studies and evaluation of interventions, which can be practiced throughout the cycle. Applying each method can result in actionable information for planners and decision-makers responsible for preparedness, response, and recovery. Disaster epidemiology, once integrated into the disaster management cycle, can provide the evidence base to inform and enhance response capability within the public health infrastructure.


Asunto(s)
Medicina de Desastres/métodos , Métodos Epidemiológicos , Desastres , Humanos , Evaluación de Necesidades , Vigilancia de la Población , Salud Pública/métodos , Sistema de Registros , Factores de Riesgo
5.
South Med J ; 106(1): 102-8, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23263323

RESUMEN

OBJECTIVE: To describe the injuries and illnesses treated by the American Red Cross (Red Cross) during Hurricanes Gustav and Ike disaster relief operations reported on a new Aggregate Morbidity Report Form. METHODS: From August 28 to October 18, 2008, 119 Red Cross field service locations in Louisiana, Mississippi, Tennessee, and Texas addressed the healthcare needs of people affected by the hurricanes. From these locations, individual client visit data were retrospectively collated per site onto new 24-hour Aggregate Morbidity Report Forms. RESULTS: A total of 3863 clients were treated. Of the clients, 48% were girls and women and 44% were boys and men; 61% were 19 to 64 years old. Ninety-eight percent of the visits occurred in shelters. The reasons for half of the visits were acute illness and symptoms (eg, pain) and 16% were for routine follow-up care. The majority (65%) of the 2516 visits required treatment at a field location, although 34%, or 1296 visits, required a referral, including 543 healthcare facility transfers. CONCLUSIONS: During the hurricanes, a substantial number of displaced evacuees sought care for acute and routine healthcare needs. The capacity of the Red Cross to address the immediate and ongoing health needs of sheltered clients for an extended period of time is a critical resource for local public health agencies, which are often overwhelmed during a disaster. This article highlights the important role that this humanitarian organization fills, to decrease surge to local healthcare systems and to monitor health effects following a disaster. The Aggregate Morbidity Report Form has the potential to assist greatly in this role, and thus its utility for real-time reporting should be evaluated further.


Asunto(s)
Planificación en Desastres , Servicios Médicos de Urgencia/estadística & datos numéricos , Evaluación de Necesidades , Sistemas de Socorro/organización & administración , Enfermedad Aguda/epidemiología , Adolescente , Adulto , Anciano , Niño , Preescolar , Enfermedad Crónica/epidemiología , Tormentas Ciclónicas , Desastres , Femenino , Humanos , Lactante , Masculino , Trastornos Mentales/epidemiología , Persona de Mediana Edad , Cruz Roja , Estudios Retrospectivos , Estados Unidos/epidemiología , Heridas y Lesiones/epidemiología
6.
Disaster Med Public Health Prep ; 16(5): 2149-2178, 2022 10.
Artículo en Inglés | MEDLINE | ID: mdl-34462032

RESUMEN

During emergency responses, public health leaders frequently serve in incident management roles that differ from their routine job functions. Leaders' familiarity with incident management principles and functions can influence response outcomes. Therefore, training and exercises in incident management are often required for public health leaders. To describe existing methods of incident management training and exercises in the literature, we queried 6 English language databases and found 786 relevant articles. Five themes emerged: (1) experiential learning as an established approach to foster engaging and interactive learning environments and optimize training design; (2) technology-aided decision support tools are increasingly common for crisis decision-making; (3) integration of leadership training in the education continuum is needed for developing public health response leaders; (4) equal emphasis on competency and character is needed for developing capable and adaptable leaders; and (5) consistent evaluation methodologies and metrics are needed to assess the effectiveness of educational interventions.These findings offer important strategic and practical considerations for improving the design and delivery of educational interventions to develop public health emergency response leaders. This review and ongoing real-world events could facilitate further exploration of current practices, emerging trends, and challenges for continuous improvements in developing public health emergency response leaders.


Asunto(s)
Liderazgo , Salud Pública , Humanos
7.
Am J Disaster Med ; 16(3): 167-177, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34904701

RESUMEN

OBJECTIVE: To capture organizational level information on the current state of public health emergency response leadership training. DESIGN: A web-based questionnaire. PARTICIPANTS: This multitiered assessment of health departments included two distinct respondent groups: (1) Public Health Emergency Preparedness (PHEP) Cooperative Agreement recipients (n = 34) and (2) local health departments (LHDs) (n = 169) representative of different agency sizes and populations served. RESULTS: Overall, PHEP and LHD respondents expressed a clear preference for participatory learning with practical drills/exercises and participatory workshops as the preferred training delivery modes. Compared with technical and role-specific training, leadership training was less available. For both PHEP and LHD respondents, staff availability for training is most notably limited due to lack of time. For PHEP respondents, a common factor limiting agency ability to offer training is lack of mentors/instructors, whereas for LHD respondents, it is limited funding. CONCLUSIONS: Efforts should focus on increasing accessibility and the continued development of rigorous and effective training based on practical experience in all aspects of multitiered public health emergency response leadership.


Asunto(s)
Defensa Civil , Salud Pública , Humanos , Liderazgo , Gobierno Local , Encuestas y Cuestionarios
8.
Public Health Rep ; 135(3): 343-353, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32243762

RESUMEN

OBJECTIVES: The spread of Zika virus throughout Latin America and parts of the United States in 2016 and 2017 presented a challenge to public health communicators. The objective of our study was to describe emergency risk communication practices during the 2016-2017 Zika outbreak to inform future infectious disease communication efforts. METHODS: We conducted semi-structured telephone interviews with 13 public health policy makers and practitioners, 10 public information officers, and 5 vector-control officials from May through August 2017. RESULTS: Within the public health macro-environment, extended outbreak timeframe, government trust, US residence status, and economic insecurity set the backdrop for Zika communication efforts. Limited resources, staffing, and partnerships negatively affected public health structural capacity for communication efforts. Public health communicators and practitioners used a range of processes and practices to engage in education and outreach, including fieldwork, community meetings, and contact with health care providers. Overall, public health agencies' primary goals were to prevent Zika infection, reduce transmission, and prevent adverse birth outcomes. CONCLUSIONS: Lessons learned from this disease response included understanding the macro-environment, developing partnerships across agencies and the community, and valuing diverse message platforms. These lessons can be used to improve communication approaches for health officials at the local, state, and federal levels during future infectious disease outbreaks.


Asunto(s)
Brotes de Enfermedades/prevención & control , Comunicación en Salud/métodos , Administración en Salud Pública/métodos , Infección por el Virus Zika/epidemiología , Control de Enfermedades Transmisibles/métodos , Conducta Cooperativa , Planificación en Desastres/organización & administración , Humanos , Factores Socioeconómicos , Infección por el Virus Zika/prevención & control
9.
Prev Med Rep ; 18: 101059, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-32154093

RESUMEN

Aerial spraying of products to kill larvae or adult mosquitoes is a public health measure used to control vector-borne diseases. In some outbreaks, the intervention has evoked controversy and community resistance. This study evaluated how local opinion leaders in US localities affected by Zika think about community engagement in public health policies for outbreak response. In December 2017 through March 2018, 4 focus groups were convened in Houston, TX, New Orleans, LA, Miami, FL, and Brooklyn, NY. They discussed a hypothetical scenario that featured vector control by aerial spraying. Participants (N = 20) more readily accepted this vector control method under 4 conditions: They were informed of alternatives, benefits, and risks for human health and the environment. Public health claims were backed by objective evidence and an authority figure genuinely working in the community's interests. They received timely notice about how to mitigate toxin exposure. And, aerial spraying helped to protect vulnerable individuals. The community engagement requirements of the local opinion leaders resonate with core principles of recent public health ethics frameworks: namely, personal autonomy, transparency, reasonableness, and solidarity. Participants foresaw problems with community consent in an era of growing social media use and mistrust in governmental and scientific authority. They also debated whether health authorities should use moral-based arguments, in addition to science-based ones, to communicate aerial spraying's risks and benefits.

10.
Am J Obstet Gynecol ; 198(1): 34.e1-7, 2008 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-17981254

RESUMEN

OBJECTIVE: The objective of the study was to examine recent trends in hysterectomy rates and indications in the United States. STUDY DESIGN: Data on hysterectomy hospitalizations during 2000-2004 were obtained from the National Hospital Discharge Survey, an annual nationally representative survey of inpatient hospitalization records. RESULTS: The hysterectomy rate decreased slightly from 5.4 per 1000 in 2000 to 5.1 per 1000 in 2004 (P for trend < .05). The proportion of hysterectomies performed for uterine leiomyoma decreased from 44.2% in 2000 to 38.7% in 2004 (P for trend < .01). Concomitant bilateral oophorectomy accompanied 54% of hysterectomies; this proportion declined from 55.1% in 2000 to 49.5% in 2004 (P for trend < .001). CONCLUSIONS: Continued monitoring is needed to determine whether the observed trends persist and to evaluate impact on women's health. In the future, information on both inpatient and outpatient procedures may be important for hysterectomy surveillance.


Asunto(s)
Histerectomía/estadística & datos numéricos , Histeroscopía/estadística & datos numéricos , Laparotomía/estadística & datos numéricos , Enfermedades Uterinas/cirugía , Adulto , Distribución por Edad , Anciano , Femenino , Encuestas de Atención de la Salud , Humanos , Histerectomía/métodos , Histerectomía Vaginal/métodos , Histerectomía Vaginal/estadística & datos numéricos , Incidencia , Pacientes Internos , Persona de Mediana Edad , Medición de Riesgo , Estados Unidos , Enfermedades Uterinas/diagnóstico , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/cirugía
11.
N Engl J Med ; 347(3): 175-84, 2002 Jul 18.
Artículo en Inglés | MEDLINE | ID: mdl-12124406

RESUMEN

BACKGROUND: Juvenile Paget's disease, an autosomal recessive osteopathy, is characterized by rapidly remodeling woven bone, osteopenia, fractures, and progressive skeletal deformity. The molecular basis is not known. Osteoprotegerin deficiency could explain juvenile Paget's disease because osteoprotegerin suppresses bone turnover by functioning as a decoy receptor for osteoclast differentiation factor (also called RANK ligand). METHODS: We evaluated two apparently unrelated Navajo patients with juvenile Paget's disease for defects in the gene encoding osteoprotegerin (TNFRSF11B) using polymerase-chain-reaction (PCR) amplification followed by direct sequencing and Southern blotting of genomic DNA. Genetic markers near TNFRSF11B were evaluated by both a PCR method that involved sequence-tagged site-content mapping of a deletion of TNFRSF11B and PCR spanning the DNA break points. RESULTS: Both patients had a homozygous deletion of TNFRSF11B, with identical break points, on chromosome 8q24.2. The defect spans approximately 100 kb, but neighboring genes are intact. We found that serum levels of osteoprotegerin and soluble osteoclast differentiation factor were undetectable and markedly increased, respectively. CONCLUSIONS: Juvenile Paget's disease can result from osteoprotegerin deficiency caused by homozygous deletion of TNFRSF11B.


Asunto(s)
Eliminación de Gen , Glicoproteínas/deficiencia , Glicoproteínas/genética , Osteítis Deformante/genética , Receptores Citoplasmáticos y Nucleares/deficiencia , Receptores Citoplasmáticos y Nucleares/genética , Receptores del Factor de Necrosis Tumoral/genética , Adolescente , Adulto , Proteínas Portadoras/sangre , Proteínas Portadoras/fisiología , Cromosomas Humanos Par 8/genética , Resultado Fatal , Femenino , Marcadores Genéticos , Glicoproteínas/sangre , Glicoproteínas/fisiología , Homocigoto , Humanos , Lactante , Masculino , Glicoproteínas de Membrana/sangre , Glicoproteínas de Membrana/fisiología , Datos de Secuencia Molecular , Osteoprotegerina , Reacción en Cadena de la Polimerasa , Ligando RANK , Receptor Activador del Factor Nuclear kappa-B , Receptores Citoplasmáticos y Nucleares/sangre , Receptores Citoplasmáticos y Nucleares/fisiología , Receptores del Factor de Necrosis Tumoral/deficiencia , Receptores del Factor de Necrosis Tumoral/fisiología , Transducción de Señal
12.
Adv Data ; (371): 1-19, 2006 May 04.
Artículo en Inglés | MEDLINE | ID: mdl-16703980

RESUMEN

OBJECTIVES: This report presents national estimates of the use of non-Federal short-stay hospitals in the United States during 2004 and selected trend data. Numbers and rates of discharges, diagnoses, and procedures are shown by age and sex. Average lengths of stay are presented for all discharges and for selected diagnostic categories by age and by sex. METHODS: The estimates are based on medical abstract data collected through the 2004 National Hospital Discharge Survey (NHDS). The survey has been conducted annually by the Centers for Disease Control and Prevention's National Center for Health Statistics (NCHS) since 1965. Diagnoses and procedures presented are coded using the International Classification of Diseases, 9th Revision, Clinical Modification, or ICD-9-CM. RESULTS: Trends in the utilization of non-Federal short-stay hospitals show that the rate of hospitalization of the elderly (those 65 years and over) increased 24 percent from 1970 through 2004 despite a decrease in the 1980s. The rates for the other age groups declined overall. In 2004, those 65 years and over comprised 12 percent of the U.S. population, 38 percent of all hospital discharges, and used 44 percent of all inpatient days of care. In 2004, there were an estimated 34.9 million hospital discharges, excluding newborn infants. The average length of stay was 4.8 days for all inpatients and 5.6 days for the elderly. Almost one-half of hospital stays for heart disease had a first-listed discharge diagnosis of either congestive heart failure (25 percent) or coronary atherosclerosis (24 percent). There were 45 million procedures performed on inpatients during 2004. From 1995 through 2004, for those 65 years and over, the rate of hip replacements increased 38 percent, and the rate of knee replacements increased 70 percent. One-quarter of all procedures performed on females were obstetrical. Almost one-quarter of all procedures performed on males were cardiovascular.


Asunto(s)
Hospitales/estadística & datos numéricos , Alta del Paciente/tendencias , Adolescente , Adulto , Anciano , Niño , Preescolar , Current Procedural Terminology , Demografía , Femenino , Encuestas de Atención de la Salud , Hospitalización/estadística & datos numéricos , Hospitalización/tendencias , Humanos , Lactante , Clasificación Internacional de Enfermedades , Masculino , Persona de Mediana Edad , Alta del Paciente/estadística & datos numéricos , Estados Unidos/epidemiología
13.
MMWR Suppl ; 65(3): 28-34, 2016 Jul 08.
Artículo en Inglés | MEDLINE | ID: mdl-27389463

RESUMEN

Establishing a functional incident management system (IMS) is important in the management of public health emergencies. In response to the 2014-2016 Ebola virus disease (Ebola) epidemic in West Africa, CDC established the Emergency Management Development Team (EMDT) to coordinate technical assistance for developing emergency management capacity in Guinea, Liberia, and Sierra Leone. EMDT staff, deployed staff, and partners supported each country to develop response goals and objectives, identify gaps in response capabilities, and determine strategies for coordinating response activities. To monitor key programmatic milestones and assess changes in emergency management and response capacities over time, EMDT implemented three data collection methods in country: coordination calls, weekly written situation reports, and an emergency management dashboard tool. On the basis of the information collected, EMDT observed improvements in emergency management capacity over time in all three countries. The collaborations in each country yielded IMS structures that streamlined response and laid the foundation for long-term emergency management programs.The activities summarized in this report would not have been possible without collaboration with many U.S and international partners (http://www.cdc.gov/vhf/ebola/outbreaks/2014-west-africa/partners.html).


Asunto(s)
Creación de Capacidad/organización & administración , Centers for Disease Control and Prevention, U.S./organización & administración , Epidemias/prevención & control , Fiebre Hemorrágica Ebola/prevención & control , Guinea/epidemiología , Fiebre Hemorrágica Ebola/epidemiología , Humanos , Cooperación Internacional , Liberia/epidemiología , Rol Profesional , Sierra Leona/epidemiología , Estados Unidos
14.
J Bone Miner Res ; 18(4): 624-36, 2003 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-12674323

RESUMEN

An 8-month-old girl who seemed certain to die from the infantile form of hypophosphatasia, an inborn error of metabolism characterized by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP), underwent the first trial of bone marrow cell transplantation for this heritable type of rickets. After cytoreduction, she was given T-cell-depleted, haplo-identical marrow from her healthy sister. Chimerism in peripheral blood and bone marrow became 100% donor. Three months later, she was clinically improved, with considerable healing of rickets and generalized skeletal remineralization. However, 6 months post-transplantation, worsening skeletal disease recurred, with partial return of host hematopoiesis. At the age of 21 months, without additional chemotherapy or immunosuppressive treatment, she received a boost of donor marrow cells expanded ex vivo to enrich for stromal cells. Significant, prolonged clinical and radiographic improvement followed soon after. Nevertheless, biochemical features of hypophosphatasia have remained unchanged to date. Skeletal biopsy specimens were not performed. Now, at 6 years of age, she is intelligent and ambulatory but remains small. Among several hypotheses for our patient's survival and progress, the most plausible seems to be the transient and long-term engraftment of sufficient numbers of donor marrow mesenchymal cells, forming functional osteoblasts and perhaps chondrocytes, to ameliorate her skeletal disease.


Asunto(s)
Trasplante de Médula Ósea , Hipofosfatasia/terapia , Fosfatasa Alcalina/deficiencia , Fosfatasa Alcalina/genética , Secuencia de Bases , Huesos/diagnóstico por imagen , Niño , Preescolar , Análisis Mutacional de ADN , Femenino , Humanos , Hipofosfatasia/diagnóstico por imagen , Hipofosfatasia/genética , Hipofosfatasia/metabolismo , Lactante , Mutación Missense , Radiografía , Células del Estroma/trasplante
16.
Mol Genet Metab ; 75(2): 143-53, 2002 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-11855933

RESUMEN

Hypophosphatasia, a heritable form of rickets/osteomalacia, was first described in 1948. The biochemical hallmark, subnormal alkaline phosphatase (ALP) activity in serum, reflects a generalized disturbance involving the tissue-nonspecific isoenzyme of ALP (TNSALP). Deactivating mutations in the gene that encodes TNSALP have been reported in patients worldwide. Nevertheless, hypophosphatasia manifests an extraordinary range of clinical severity spanning death in utero to merely premature loss of adult teeth. There is no known medical treatment. To delineate the molecular pathology which explains the disease variability and to clarify the pattern(s) of inheritance for mild cases of hypophosphatasia, we developed comprehensive mutational analysis of TNSALP. High efficiency of mutation detection was possible by denaturing gradient gel electrophoresis (DGGE). Primers and conditions were established for all TNSALP coding exons (2-12) and adjacent splice sites so that the amplicons incorporated a GC clamp on one end. For each amplicon, the optimum percentage denaturant was determined by perpendicular DGGE. In 19 severely affected pediatric subjects (having perinatal or infantile hypophosphatasia or early presentation during childhood) from among our large patient population, we detected 2 TNSALP mutations each in 16 patients (84%) as expected for autosomal recessive disease. For 2 patients (11%), only 1 TNSALP mutation was detected by DGGE. However, one subject (who died from perinatal hypophosphatasia) had a large deletion as the second mutation. In the other (with infantile hypophosphatasia), no additional mutation was detected by DNA sequencing of all protein-coding exons. Possibly, she too has a deletion. For the final patient, with unclassifiable hypophosphatasia (5%), we detected only a single mutation which has been reported to cause relatively mild autosomal dominant disease; the other allele appeared to be intact. Hence, DGGE analysis was 100% efficient in detecting mutations in the coding exons and adjacent splice sites of TNSALP in this group of severely affected patients but, as expected, failed to detect a large deletion. To date, at least 78 different TNSALP mutations (in about 70 hypophosphatasia patients) have been reported globally. In our large subset of severely affected patients, we identified 8 novel TNSALP mutations (Ala34Ser, Val111Met, Delta G392, Thr117His, Arg206Gln, Gly322Arg, Leu397Met, and Gly409Asp) and 1 new TNSALP polymorphism (Arg135His) furthering the considerable genotypic variability of hypophosphatasia.


Asunto(s)
Fosfatasa Alcalina/genética , Análisis Mutacional de ADN/métodos , Hipofosfatasia/genética , Fosfatasa Alcalina/deficiencia , Secuencia de Bases , Niño , Preescolar , Electroforesis en Gel de Poliacrilamida , Humanos , Lactante , Recién Nacido , Isoenzimas/genética , Datos de Secuencia Molecular , Mutación
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA