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1.
BMC Fam Pract ; 12: 136, 2011 Dec 06.
Artículo en Inglés | MEDLINE | ID: mdl-22145678

RESUMEN

BACKGROUND: Research has indicated that general practitioners (GPs) have good clinical judgment in regards to diagnosing and managing herpes zoster (HZ) within clinical practice in a country with limited resources for primary care and general practice. The objective of the current study was to assess the burden of HZ and post herpetic neuralgia (PHN) within rural general practices in Crete, Greece. METHODS: The current study took place within a rural setting in Crete, Greece during the period of November 2007 to November 2009 within the catchment area in which the Cretan Rural Practice-based Research Network is operating. In total 19 GP's from 14 health care units in rural Crete were invited to participate, covering a total turnover patient population of approximately 25, 000 subjects. For the purpose of this study an electronic record database was constructed and used as the main tool for monitoring HZ and PHN incidence. Stress related data was also collected with the use of the Short Anxiety Screening Test (SAST). RESULTS: The crude incidence rate of HZ was 1.4/1000 patients/year throughout the entire network of health centers and satellite practices, while among satellite practices alone it was calculated at 1.3/1000 patients/year. Additionally, the standardised incidence density within satellite practices was calculated at 1.6/1000 patients/year. In regards to the stress associated with HZ and PHN, the latter were found to have lower levels of anxiety, as assessed through the SAST score (17.4 ± 3.9 vs. 21.1 ± 5.7; p = 0.029). CONCLUSIONS: The implementation of an electronic surveillance system was feasible so as to measure the burden of HZ and PHN within the rural general practice setting in Crete.


Asunto(s)
Costo de Enfermedad , Medicina Familiar y Comunitaria/normas , Herpes Zóster/economía , Neuralgia Posherpética/economía , Atención Primaria de Salud/economía , Garantía de la Calidad de Atención de Salud/métodos , Servicios de Salud Rural/economía , Adulto , Anciano , Anciano de 80 o más Años , Áreas de Influencia de Salud/estadística & datos numéricos , Redes Comunitarias/estadística & datos numéricos , Registros Electrónicos de Salud/estadística & datos numéricos , Femenino , Grecia/epidemiología , Investigación sobre Servicios de Salud , Herpes Zóster/diagnóstico , Herpes Zóster/epidemiología , Humanos , Incidencia , Masculino , Estado Civil , Persona de Mediana Edad , Neuralgia Posherpética/diagnóstico , Neuralgia Posherpética/epidemiología , Atención Primaria de Salud/estadística & datos numéricos , Psicometría/métodos , Servicios de Salud Rural/normas , Servicios de Salud Rural/estadística & datos numéricos , Vigilancia de Guardia , Clase Social , Estrés Psicológico/clasificación , Estrés Psicológico/diagnóstico
2.
Am J Med Genet A ; 155A(10): 2426-35, 2011 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21910223

RESUMEN

Fibroblast Growth Factor Receptor 3 (FGFR3) related skeletal dysplasias are caused by mutations in the FGFR3 gene that result in increased activation of the receptors causing alterations in the process of endochondral ossification in all long bones, and include achondroplasia, hypochondroplasia, thanatophoric dysplasia, and SADDAN. Reports of prenatal diagnosis of FGFR3 related skeletal dysplasias are not rare; however, the correlation between 2nd trimester ultrasonographic findings and underlying molecular defect in these cases is relatively poor. There is a need for specific ultrasound (U/S) predictors than can distinguish lethal from non-lethal cases and aid an earlier prenatal diagnosis. Here we present one familial and 16 sporadic cases with FGFR3 related skeletal dysplasia, and we evaluate biometric parameters and U/S findings consistent with the diagnosis of skeletal dysplasia. U/S scan performed even at the 18th week of gestation can indicate a decreased rate of development of the femora (femur length (FL) <5th centile), while the mean gestational age at diagnosis is still around the 26th week. The utility of other biometric parameters and ratios is discussed (foot length, BPD, HC, FL/foot, and FL/AC). Prenatal cytogenetic and molecular genetic analyses were performed. A final diagnosis was reached by molecular analysis. In two cases of discontinued pregnancy, fetal autopsy led to a phenotypic diagnosis and confirmed the prenatal prediction of lethality. We conclude that the combination of U/S and molecular genetic approach is helpful for establishing an accurate diagnosis of FGFR3-related skeletal dysplasias in utero and subsequently for appropriate genetic counselling and perinatal management.


Asunto(s)
Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Enfermedades del Desarrollo Óseo/genética , Diagnóstico Prenatal/métodos , Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos/genética , Femenino , Humanos , Mutación/genética , Embarazo , Estudios Retrospectivos , Análisis de Secuencia de ADN , Ultrasonografía
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