RESUMEN
Williams-Beuren syndrome is considered to be at increased risk for celiac disease, as for recent literature data and celiac disease guidelines, despite pathogenic mechanisms are still unclear. Our study analyzed the prevalence of autoimmune disorders, HLA DQ2 and/or DQ8 haplotypes, of transglutaminase antibodies and of diagnosis of celiac disease in a cohort of 93 Williams-Beuren syndrome's patients (mean age 21.26 years). Our study showed an increased prevalence of celiac disease equal to 10.8% (10/93 patients). We did not find a significant different frequency of predisposing HLA in subjects with Williams-Beuren syndrome compared to literature data in the general population (49.5% vs. 42.9%, with p > .1), nor a susceptibility to autoimmunity. This suggests that the increased prevalence of celiac disease in Williams-Beuren syndrome cannot be ascribed to HLA haplotype and may be related to other factors that still need to be identified in these patients.
Asunto(s)
Enfermedades Autoinmunes , Enfermedad Celíaca , Síndrome de Williams , Humanos , Adulto Joven , Adulto , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/epidemiología , Enfermedad Celíaca/genética , Síndrome de Williams/complicaciones , Síndrome de Williams/epidemiología , Síndrome de Williams/genética , Transglutaminasas , Haplotipos , Predisposición Genética a la EnfermedadRESUMEN
Williams-Beuren syndrome (WBS) is caused by an haploinsufficiency of the 7q11.2 region which involves the elastin gene (ELN). A deficiency of elastin is a known pathophysiological mechanism of emphysema/chronic obstructive pulmonary disease (COPD). A previous study hypothesized a higher risk of COPD in WBS patients. Herein, this phenomenon was further investigated looking for a possible correlation between COPD and WBS. Dynamic lung volumes (forced vital capacity [FVC], FEV1, FEV1/FVC) were measured in 22 patients (age range 18.9 ± 7.4 years) affected with WBS, genetically confirmed, correlating these parameters to respiratory risk factors. Dyspnea, cough and wheezing were detected in 6/22 (27%) patients. Obstructive and restrictive patterns were identified in 6/22 (27%) and 2/22 (9%) cases, respectively with no evidence of irreversible obstruction. CVF, FEV1 and FEV1/CVF mean values were all normal, with values of 91.3% (n.v. > 80%), 84.2% (n.v. > 80%) and 0.82 (n.v. > 0.7), respectively. The severity of the comorbidities did not show a cause-effect relation with the respiratory patterns, nevertheless patients treated with anti-hypertensive drugs had poorer pulmonary function. Our findings are in accordance with previous observations, showing that emphysema/COPD is not a typical finding in young patients with WBS. However, a respiratory function assessment should be included in the follow-up of WBS patients, especially in adolescents/young adults under treatment with anti-hypertensive drugs.
Asunto(s)
Pulmón/fisiopatología , Enfermedad Pulmonar Obstructiva Crónica/genética , Enfisema Pulmonar/genética , Síndrome de Williams/genética , Adolescente , Adulto , Niño , Elastina/metabolismo , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Enfermedad Pulmonar Obstructiva Crónica/diagnóstico , Enfermedad Pulmonar Obstructiva Crónica/fisiopatología , Enfisema Pulmonar/diagnóstico , Enfisema Pulmonar/patología , Pruebas de Función Respiratoria , Factores de Riesgo , Espirometría , Capacidad Vital/fisiología , Síndrome de Williams/diagnóstico , Síndrome de Williams/fisiopatología , Adulto JovenRESUMEN
In the last decade, the number of children and youth with special health care needs (CYSHCN) is increased as a result of the improvement of neonatal and pediatric assistance. The aim of our study was to describe the burden of care of the families caring a CYSHCN in our country, evaluating their living condition in order to explore socio-economic characteristics, health problems, needs and their adaptation processes trying to reach a balance between the needs of the disabled child and those of the other family members. We administered a questionnaire to the parents of CYSHCN during a routine clinical evaluation. From the analyses of questionnaires obtained, parents were the main caregiver of the children and 43,8% of them reported that they were not getting enough support. Burden of care fell on parents and indeed compilers reported an average level of stress of 3,2 (0-5) and more important, the main reported sources of stress were the concern about the future and health of their children. From the analyses of our population emerged unsatisfied needs of these families and their necessity to be effectively supported and integrated into the social fabric of the community. Social supporting is essential to help managing family stress and is evident the needed of these parents for interventions to directly target caregiver needs through the provision of tailored services, such as respite care opportunity, peer support, financial aid and medical home technologies to improve their quality of life.
Asunto(s)
Carga del Cuidador/epidemiología , Enfermedades Genéticas Congénitas/psicología , Enfermedades Raras/psicología , Adulto , Carga del Cuidador/psicología , Niño , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Padres/psicología , Apoyo SocialRESUMEN
Celiac disease (CD) screening in patients with Williams-Beuren Syndrome (WBS) is suggested, although data described in literature are discordant regarding CD prevalence in WBS. We retrospectively collected data from 101 WBS Italian patients [mean age: 13.5 years], to clarify the CD prevalence in a large cohort. All patients underwent a CD biochemical screening: IgA and anti-transglutaminase reflex antibodies (tTGA). CD-specific HLA typing was available for 42 patients. Small intestinal biopsy was performed in patients according to ESPGHAN guidelines. In 7 WBS patients an overt celiac disease was diagnosed. In 3 patients CD was confirmed by symptoms, HLA-DQ heterodimers and CD specific antibodies title, whereas in 4 patients, it was confirmed by a small intestinal biopsy. CD prevalence in our cohort is 6.9% (7/101). In 42/101 patients the CD-specific HLA typing was available, detecting 29/42 (69%) patients genetically predisposed to CD. The CD prevalence and CD-specific HLA prevalence are both higher than in the general population (p < 0.001; p < 0.001). Our cohort is the most numerous described confirming that the CD risk in WBS patients is significantly greater than in general population. Moreover, our HLA typing results, as well as scientific literature, suggest that the higher CD prevalence in WBS patients might not be intrinsically related to the genetic disease itself but with the higher HLA prevalence. However, HLA typing should be performed in bigger WBS cohorts to confirm this hypothesis. Our data confirms that HLA typing is mandatory in WBS patients and that CD screening should be performed only if genetically predisposed.
Asunto(s)
Enfermedad Celíaca/genética , Pruebas Genéticas/normas , Síndrome de Williams/genética , Adolescente , Anticuerpos/inmunología , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/epidemiología , Niño , Preescolar , Femenino , Antígenos HLA-DQ/genética , Humanos , Pruebas Inmunológicas/normas , Lactante , Intestino Delgado/inmunología , Intestino Delgado/patología , Masculino , Transglutaminasas/inmunología , Síndrome de Williams/complicaciones , Síndrome de Williams/diagnósticoRESUMEN
Although physical activity is frequently recommended in the management of type Idiabetes it has not yet been established whether practising regular exercise could actually improve the long-term outcome of metabolic control. In this follow-up study we assessed the impact of long-term physical activity in patients with type 1 diabetes mellitus. We studied longitudinally 69 patients with type 1 diabetes mellitus, 43 boys and 26 girls aged at onset of the disease 8.98 +/- 3.90 years with a mean duration of the disease of 97 +/- 63 months. The patients were classified according to the duration of the disease in 3 groups [A:24-60 months (69); B: 61-120 months (41); C > or =121 months (19)]. The average time spent weekly doing exercise was recorded for each patient in the three duration periods taken into account. On average our patients reported 3.0 +/- 2.9 hours of physical activity per week. On the basis of the hour/week of physical activity we divided the patients into 4 groups [G1: <2 hrs/week (46%); G2: 2-4 hrs/week (29%); G3 >4 hrs/week (22%) > or =7 hrs/week (3%)]. The duration group B showed a significant lower HbAlc and HbA1c adjusted for duration of the disease in G4 compared to G2 (p < 0.05) and G3 (p < 0.05). No differences were found for insulin requirement, weight excess, blood pressure and heart rate between active and sedentary patients. According to our results we concluded that exercise can improve the quality of metabolic control only if it is adjusted to the training level of the patient.