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2.
Front Pediatr ; 10: 886551, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35664871

RESUMEN

Background: Anaphylaxis is a life-threatening event, but it is frequently undertreated in pediatric patients with food allergies. Previous studies showed that auto-injectable adrenaline (AAI) is underused by patients and parents. This is especially troubling since fatal anaphylaxis has been associated with delayed adrenaline administration. Objectives: This study aimed to investigate parental practice and knowledge in anaphylaxis management, and perceived barriers and facilitators in using AAI. Results: A retrospective survey was completed by 75 parents (41 mothers, 34 fathers) of children with food allergy and AAI prescription attending the Food Allergy Referral Center of Veneto, Italy. Results showed poor parental preparedness and reluctance to use AAI despite a high/moderate self-rated knowledge (median total score of 23-min. 3, max. 30). Most parents (77%) declared they were carrying AAI but only 20% used it in case of a severe reaction. Most reported Fear/Fear of making mistakes (46 parents) and Concern about possible side effects as barriers (35), while Poor knowledge of the correct AAI use (1) and Lack of knowledge/ incorrect assessment of symptoms (2) were reported less frequently. Theoretical-practical courses for parents on AAI use (65), Psycho-education/Psychological support (3) for better dealing with the emotional aspects of anaphylaxis and Written instructions (1) have been suggested as main facilitators. Conclusion: Understanding parents' experience and perspective on managing anaphylaxis is crucial to implement effective educational programs. A multidisciplinary approach should be considered.

3.
Clin Transl Allergy ; 12(2): e12078, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35140908

RESUMEN

BACKGROUND: Oral immunotherapy (OIT) is a promising treatment for food allergy (FA) however it is a challenging process for patients and parents. Induction can generate stress and anxiety. This may in turn affect their motivation and ability to cope with OIT challenges. OBJECTIVE: This study aimed to investigate psychological needs and support to patients/parents undergoing food OIT assessing participants' main characteristics, reasons for seeking psychological support, OIT phase and related psychological difficulties, type and timing of treatments and patients' perception of the effectiveness of the intervention. METHODS: This is an observational, retrospective study. 50 psychological interventions required for OIT related problems were selected consecutively in a Referral Centre in North-Eastern Italy. All patients had a medical diagnosis of FA and were undergoing OIT or had just discontinued it. Data were collected from hospital records. A descriptive statistical analysis was performed. RESULTS: 66% of patients asked for psychological support for the initial phase (e.g., oral food challenge, first maintenance doses), 20% during the up-dosing phase, 8% during maintenance and 6% after discontinuation. 70% of treatments were required mainly because of emotional problems including dysfunctional anxiety and mood disorders, increased distress and excessive worry and/or fear related to OIT; 20% because of difficulties in managing OIT; 10% because of eating difficulties; 50% of patients reported recent anaphylaxis. All patients reported improvement and felt the psychological intervention was helpful. CONCLUSION: It is recommended to evaluate the psychological needs in profiling patients and families suitable to OIT and offer specific psychological support when needed.

4.
Pediatr Allergy Immunol ; 33(1): e13680, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34655502

RESUMEN

BACKGROUND: Alexithymia is a multifaceted personality construct described as "a lack of words to express emotions" that includes difficulty identifying feelings, difficulty describing feelings and a concrete, externally oriented cognitive style. Among patients with food allergy (FA) alexithymia has been found higher than in general population and associated with dysfunctional coping strategies. Childhood traumatic experiences and/or dysfunctional parent-child relationship can contribute to alexithymia. The study aimed to explore possible associations between child alexithymia and mother alexithymia and anxiety, as well as previous anaphylaxis. METHODS: Sixty-five mother-child pairs have been recruited. Children had a medical diagnosis of FA. The Toronto Alexithymia Scale-20 was used to assess alexithymia in participants. The State-Trait Anxiety Inventory was used to assess trait anxiety in mothers. Statistical analysis was performed to investigate the influence of variables sex, previous anaphylaxis, and adrenaline auto-injector prescription on child and mother's alexithymia and to explore possible association between maternal and child alexithymia. RESULTS: A substantial percentage of children were alexithymic (21.5%) or borderline (33.8%), while mothers' frequencies were lower and in line with prevalence in general population. Child alexithymia was positively associated with previous anaphylaxis and mothers' trait anxiety (p < .05). Mother trait anxiety was also associated with maternal alexithymia. Furthermore, a positive association between child and mother alexithymia has been found. CONCLUSIONS: Clinicians must be aware of the role of alexithymia and its association with maternal anxiety and previous anaphylaxis in children with FA, encouraging seeking psychological support when needed. A multidisciplinary patient-centered approach should be put in place for the effective care of FA.


Asunto(s)
Anafilaxia , Hipersensibilidad a los Alimentos , Adaptación Psicológica , Síntomas Afectivos/diagnóstico , Síntomas Afectivos/epidemiología , Síntomas Afectivos/psicología , Anafilaxia/epidemiología , Ansiedad/epidemiología , Ansiedad/psicología , Femenino , Hipersensibilidad a los Alimentos/epidemiología , Hipersensibilidad a los Alimentos/psicología , Humanos
5.
Pediatr Allergy Immunol ; 31(4): 380-387, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-31943386

RESUMEN

BACKGROUND: Despite a relatively high risk for allergic reactions, including anaphylaxis, schools are not sufficiently trained and confident in handling children suffering from food allergy. This study aimed to measure the improvement of school personnel's self-efficacy in managing food allergy and anaphylaxis at school after a specific multidisciplinary training course. METHODS: A total of 592 teachers and school caretakers completed the School Personnel Self-Efficacy-Food Allergy and Anaphylaxis Questionnaire (S.PER.SE-FAAQ) before and after the course. The median difference, along with I quartile and III quartile, in scores between baseline and post-intervention assessment was calculated. A conditional regression tree was fitted for each outcome measured after the educational intervention. RESULTS: At baseline, school personnel reported low self-efficacy in anaphylaxis management (AM), especially in recognizing anaphylaxis symptoms and administering proper drugs. After the specific multidisciplinary training course, all scores improved. AM scores particularly showed a significant increase. School personnel's post-training self-efficacy was found to be related to initial levels. Some indicative threshold values emerged. Remarkably, participants with a low self-efficacy at baseline seemed to particularly benefit from the training. CONCLUSIONS: Results highlighted the effectiveness of specific multidisciplinary training courses in improving teachers' and school caretakers' self-efficacy in managing food allergy and anaphylaxis. The S.PER.SE-FAAQ is confirmed to be an easy and helpful tool to assess the level of food allergy and anaphylaxis management in the school staff and training effectiveness.


Asunto(s)
Anafilaxia/terapia , Hipersensibilidad a los Alimentos/terapia , Maestros/psicología , Autoeficacia , Formación del Profesorado/métodos , Adulto , Anciano , Anafilaxia/prevención & control , Broncodilatadores/uso terapéutico , Epinefrina/uso terapéutico , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Servicios de Salud Escolar , Instituciones Académicas , Encuestas y Cuestionarios , Adulto Joven
7.
Pediatr Allergy Immunol ; 28(5): 458-463, 2017 08.
Artículo en Inglés | MEDLINE | ID: mdl-28480615

RESUMEN

BACKGROUND: Food allergy is a common immunologic disease that includes potentially fatal reactions. It impacts considerably on patients' social life including close interpersonal relationships. Attachment theory provides a theoretic framework to evaluate the quality of close interpersonal relationships in chronic disorders. Attachment insecurity, mainly characterized by attachment avoidance, has been found in a variety of health conditions, but still needs to be investigated in food allergy. The study aimed to investigate attachment, as attitude to close interpersonal relationships, among food-allergic young patients, compared to healthy controls. METHODS: This is a cross-sectional study involving patients suffering from IgE-mediated food allergy sequentially recruited and matched to healthy controls for age and gender. The Attachment Style Questionnaire (ASQ) was used to assess five factors and two attachment dimensions (Anxiety-Avoidance). Associations with anaphylaxis and adrenaline prescription were explored among patients. RESULTS: 174 participants were assessed (female=45%; mean age=17.51; SD=4.26). Food-allergic patients reported significantly higher levels of Discomfort with Closeness (P<.05), Relationships as Secondary (P<.05) and Attachment Avoidance (P<.0001) compared to controls. CONCLUSIONS: Clinicians should be aware of implications of insecure attachment for health and illness. They should support patients in limiting social impairment finding a balance between safety and psychologic well-being.


Asunto(s)
Actitud , Reacción de Prevención , Hipersensibilidad a los Alimentos/psicología , Relaciones Interpersonales , Apego a Objetos , Adolescente , Adulto , Ansiedad/diagnóstico , Ansiedad/etiología , Estudios de Casos y Controles , Enfermedad Crónica , Estudios Transversales , Femenino , Humanos , Masculino , Pruebas Psicológicas , Teoría Psicológica , Calidad de Vida , Apoyo Social , Adulto Joven
8.
J Health Psychol ; 22(2): 228-236, 2017 02.
Artículo en Inglés | MEDLINE | ID: mdl-26349611

RESUMEN

Alexithymia is a multifaceted personality construct associated with several medical illnesses. However, no studies have focused on food allergy. We investigated alexithymia among food-allergic youths, compared to a matched healthy sample. A total of 220 participants aged 9-25 years were assessed using the Toronto Alexithymia Scale and the Alexithymia Questionnaire for Children. Food-allergic patients reported higher levels of alexithymia compared to a matched healthy sample. Furthermore, an association between alexithymia and a clinical history of anaphylaxis was found among patients. Some possible hypotheses have been discussed considering physiological, psychological, developmental, and cognitive/behavioral factors.


Asunto(s)
Síntomas Afectivos/epidemiología , Síntomas Afectivos/psicología , Actitud Frente a la Salud , Hipersensibilidad a los Alimentos/epidemiología , Hipersensibilidad a los Alimentos/psicología , Adolescente , Adulto , Niño , Comorbilidad , Femenino , Humanos , Italia/epidemiología , Masculino , Encuestas y Cuestionarios , Adulto Joven
9.
Pediatr Allergy Immunol ; 27(4): 356-60, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-26887784

RESUMEN

BACKGROUND: Food allergy affects up to 4-7% European schoolchildren. Studies identified important shortcomings on food allergy and anaphylaxis management in schools. In social cognitive theory, personal beliefs in own capabilities influence choices, effort levels, perseverance and performance accomplishments. This study aimed to investigate school personnel's self-efficacy in managing food allergy and anaphylaxis, providing a valid instrument to deeply understand how to support schools to effectively manage students at risk of food reactions. METHODS: A total of 440 schoolteachers and caretakers from north-east Italy completed a questionnaire assessing self-efficacy in managing food allergy and anaphylaxis at school. Exploratory factor analysis was performed. Factors' internal consistency was evaluated using Cronbach's alpha. Factors' scores were estimated using Bartlett approach, and kernel density estimate of distributions was provided. Descriptive statistics explored school personnel's self-efficacy. A regression model assessed the influence of gender, school, job and previous experience. RESULTS: Two factors emerged from exploratory factor analysis related to anaphylaxis management (AM) and food allergy management (FAM). The two subscales both showed good internal consistency. School personnel showed lower self-efficacy in recognizing symptoms, administering drugs and guaranteeing full participation to extra-curricular activities to food-allergic students. Participants who previously had food-allergic students showed a significantly increased self-efficacy in AM and a significantly decreased self-efficacy in FAM. CONCLUSIONS: The study supports the use of self-efficacy scale to identify specific areas where teachers' confidence in their ability to care for food-allergic students is especially weak. This would empower the development of training programs specifically tailored to the needs of teachers and caregivers.


Asunto(s)
Anafilaxia/terapia , Cuidadores/psicología , Hipersensibilidad a los Alimentos/terapia , Conocimientos, Actitudes y Práctica en Salud , Servicios de Salud Escolar , Maestros/psicología , Autoeficacia , Anafilaxia/diagnóstico , Anafilaxia/inmunología , Análisis Factorial , Femenino , Hipersensibilidad a los Alimentos/diagnóstico , Hipersensibilidad a los Alimentos/inmunología , Humanos , Capacitación en Servicio , Italia , Masculino , Poder Psicológico , Reconocimiento en Psicología , Encuestas y Cuestionarios
12.
J Health Psychol ; 20(6): 850-7, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26032801

RESUMEN

The study investigated self-concept in food-allergic youths and matched healthy controls. Global and domain-specific self-concepts were assessed in 154 participants (9-19 years) using the Multidimensional Self-Concept Scale. Statistical analysis assessed differences between the two samples and effects of asthma, dermatitis, age, and gender among patients. Significant differences were found for Total Scale score and for Competence and Physical scores. Patients showed clinically problematic self-concepts in Global, Competence, and Family domains. Age was found to be associated with the Total score. Health professionals should consider food-allergic patients' personality development. Further studies could examine disease-specific consequences and interventions.


Asunto(s)
Hipersensibilidad a los Alimentos/psicología , Autoimagen , Adolescente , Adulto , Niño , Humanos , Adulto Joven
15.
Clin Transl Allergy ; 3(1): 41, 2013 Dec 10.
Artículo en Inglés | MEDLINE | ID: mdl-24325875

RESUMEN

BACKGROUND: Avoidance of food allergens requires adapting dietetic habits, changing nutritional approach. A restriction of food choice can result in a monotonous diet and impact social life. This study investigated the impact of food allergy on nutritional behavior and attitudes of patients and their families. METHODS: A survey involving mothers of food allergic children aged 0-16 years was carried out. We primarily studied the variables related to the child (age, gender, clinical history, food and social events attitudes). In addition, Spielberg Trait-Anxiety Inventory (STAI-T) test was applied to the mothers. We assessed separately the associations between characteristics of child-mother pairs and diet monotony, and attendance to social events, by means of proportional odds regression models. RESULTS: Nearly 10% of the 124 participants completely banned allergenic foods at home and 15.3% consumed their meals separately. More than one fourth attended parties rarely or never. Most of the participants reported a "monotonous diet". Model results suggested significant associations between child age (p = 0.05), mother age (p = 0.05), number of excluded foods (p = 0.003) and monotony of the diet. The attendance of social events was inversely associated with the number of excluded foods (p = 0.04) and the mother's STAI-T T-score (p = 0.04). CONCLUSIONS: The results highlighted the impact of food allergy in reducing interest about food and influencing patients' approach to social life. It is important to support families in managing allergens avoidance.

16.
Clin Transl Allergy ; 3(1): 39, 2013 Nov 25.
Artículo en Inglés | MEDLINE | ID: mdl-24274206

RESUMEN

BACKGROUND: The incidence of food allergy is such that most schools will be attended by at least one food allergic child, obliging school personnel to cope with cases at risk of severe allergic reactions. Schools need to know about food allergy and anaphylaxis management to ensure the personal safety of an increasing number of students. The aim of this study was to investigate Italian school teachers and principals' knowledge, perceptions and feelings concerning food allergy and anaphylaxis, to deeply understand how to effectively support schools to manage a severely allergic child. In addition a further assessment of the impact of multidisciplinary courses on participants was undertaken. METHODS: 1184 school teachers and principals attended courses on food allergy and anaphylaxis management at school were questioned before and after their course. Descriptive and inferential statistics were used to analyze the resulting data. RESULTS: Participants tended to overestimate the prevalence of food allergy; 79.3% were able to identify the foods most likely involved and 90.8% knew the most frequent symptoms. 81.9% were familiar with the typical symptoms of anaphylaxis but, while the majority (65.4%) knew that "adrenaline" is the best medication for anaphylaxis, only 34.5% knew indications of using adrenaline in children. 48.5% thoroughly understood dietary exclusion. School personnel considered that food allergic students could have social difficulties (10.2%) and/or emotional consequences (37.2%) because of their condition. "Concern" was the emotion that most respondents (66.9%) associated with food allergy. At the end of the course, the number of correct answers to the test increased significantly. CONCLUSIONS: Having adequately trained and cooperative school personnel is crucial to significantly reduce emergencies and fatal reactions. The results emphasize the need for specific educational interventions and improvements in school health policies to support schools to deal with allergic students ensuring their safety and psychological well-being.

17.
Eur J Endocrinol ; 169(6): 773-84, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24014553

RESUMEN

OBJECTIVE: Addison's disease (AD) is a rare endocrine condition. DESIGN: We aimed to evaluate clinical, immunologic, adrenal imaging, and genetic features in 633 Italian patients with AD followed up since 1967. METHODS: Adrenal cortex autoantibodies, presence of other autoimmune and nonautoimmune diseases, nonadrenal autoantibodies, adrenal imaging, and genetic profile for HLA-DRB1 and AIRE were analyzed. RESULTS: A total of 492 (77.7%) patients were found to be affected by autoimmune AD (A-AD), 57 (9%) tuberculous AD, 29 (4.6%) genetic-associated AD, 10 (1.6%) adrenal cancer, six (0.94%) post-surgical AD, four (0.6%) vascular disorder-related AD, three (0.5%) post-infectious AD, and 32 (5.1%) were defined as idiopathic. Adrenal cortex antibodies were detected in the vast majority (88100%) of patients with recent onset A-AD, but in none of those with nonautoimmune AD. Adrenal imaging revealed normal/atrophic glands in all A-AD patients: 88% of patients with A-AD had other clinical or subclinical autoimmune diseases or were positive for nonadrenal autoantibodies. Based on the coexistence of other autoimmune disorders, 65.6% of patients with A-AD were found to have type 2 autoimmune polyendocrine syndrome (APS2), 14.4% have APS1, and 8.5% have APS4. Class II HLA alleles DRB1*03 and DRB1*04 were increased, and DRB1*01, DRB1*07, DRB1*013 were reduced in APS2 patients when compared with controls. Of the patients with APS1, 96% were revealed to have AIRE gene mutations. CONCLUSIONS: A-AD is the most prevalent form of adrenal insufficiency in Italy, and ∼90% of the patients are adrenal autoantibody-positive at the onset. Assessment of patients with A-AD for the presence of other autoimmune diseases should be helpful in monitoring and diagnosing APS types 1, 2, or 4 and improving patients' care.


Asunto(s)
Enfermedad de Addison , Corteza Suprarrenal/inmunología , Autoanticuerpos/sangre , Cadenas HLA-DRB1/genética , Factores de Transcripción/genética , Enfermedad de Addison/diagnóstico , Enfermedad de Addison/epidemiología , Enfermedad de Addison/genética , Enfermedad de Addison/inmunología , Enfermedad de Addison/terapia , Adolescente , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Neoplasias de las Glándulas Suprarrenales/epidemiología , Neoplasias de las Glándulas Suprarrenales/secundario , Adrenalectomía , Adulto , Edad de Inicio , Anciano , Niño , Femenino , Estudios de Seguimiento , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Mutación , Fenotipo , Estudios Retrospectivos , Distribución por Sexo , Proteína AIRE
18.
Clin Endocrinol (Oxf) ; 73(4): 535-9, 2010 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-20039895

RESUMEN

OBJECTIVE: Our study aimed to investigate whether physiological doses of selenium (Se) influence the natural course of autoimmune thyroiditis (AIT). DESIGN AND PATIENTS: A total of 76 consecutive patients (65 F, 11 M, median 43, range 15-75 years) with AIT, normal or slightly elevated TSH and fT4 within the normal range were divided into two groups: Group 0 (30 cases) was given no treatment while Group 1 (46 cases) was treated with sodium selenite 80 µg/day as a single oral dose for 12 months. Thyroperoxidase and thyroglobulin autoantibodies (TPO-Ab; Tg-Ab), TSH, fT4 and urine iodine concentrations (UIC) were measured at baseline and after 6 and 12 months of follow-up. Thyroid ultrasonography (US) was performed at each follow-up point. Echogenicity was measured by histographic analysis of gray-scale pixels (gsp) ranging from 0 = black to 255 = white. RESULTS: Thyroid echogenicity decreased significantly in both groups after 6 months, but after 12 months, it had changed no more in Group 1, whereas it had dropped further in Group 0. No significant variation in TPO-Ab or Tg-Ab levels was observed between the two groups after 6 months, but both values decreased significantly after 12 months in Group 1, and five patients in this group became negative for TPO-Ab. TSH and FT4 showed no significant variations in either group. CONCLUSIONS: Dietary supplementation with physiological doses of Se seems to be effective in preventing a reduction in thyroid echogenicity after 6 months of treatment and in reducing TPO-Ab and Tg-Ab after 12 months, but does not modify TSH or FT4.


Asunto(s)
Selenito de Sodio/administración & dosificación , Tiroiditis Autoinmune/tratamiento farmacológico , Adolescente , Adulto , Anciano , Autoanticuerpos/sangre , Suplementos Dietéticos , Femenino , Humanos , Yoduro Peroxidasa/inmunología , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Tiroglobulina/inmunología , Glándula Tiroides/patología , Tiroiditis Autoinmune/inmunología , Tiroiditis Autoinmune/patología , Tirotropina/sangre
19.
Epilepsia ; 50(11): 2420-7, 2009 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-19583784

RESUMEN

PURPOSE: Ring chromosome 20 [r(20)] syndrome is a well-defined chromosomal disorder characterized by epilepsy, mild-to-moderate mental retardation, and lack of recognizable dysmorphic features. Epilepsy is often the most important clinical manifestation of the syndrome, even if its appearance is not constantly precocious. Seizures are frequently drug resistant. METHODS: We describe three children with [r(20)] syndrome in whom the onset of epilepsy (age at onset range: 4 years and 6 months to 9 years and 4 months) determined a kind of epileptic status (age at onset range: 6 years and 10 months to 9 years and 8 months) with dramatic neuropsychological deterioration. This epileptic status lasted for several months because of refractoriness to most antiepileptic drugs (AEDs), but it was treated successfully with a combination of valproate and lamotrigine in two children. RESULTS: As soon as seizures stopped, the children showed prompt recovery with partial restoration of the neuropsychological impairment. CONCLUSION: This clinical picture can be described as abrupt epileptic encephalopathy.


Asunto(s)
Cromosomas Humanos Par 20/genética , Epilepsia/epidemiología , Epilepsia/genética , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Cromosomas en Anillo , Adulto , Edad de Inicio , Anticonvulsivantes/uso terapéutico , Niño , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/epidemiología , Trastornos del Conocimiento/genética , Comorbilidad , Resistencia a Medicamentos , Quimioterapia Combinada , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Discapacidad Intelectual/epidemiología , Lamotrigina , Pruebas Neuropsicológicas/estadística & datos numéricos , Síndrome , Triazinas/uso terapéutico , Ácido Valproico/uso terapéutico
20.
Clin Endocrinol (Oxf) ; 70(3): 421-8, 2009 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-18616706

RESUMEN

OBJECTIVE: Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare syndrome characterized by chronic candidiasis, chronic hypoparathyroidism and Addison's disease. APECED has been associated with mutations in autoimmune regulator (AIRE) gene. Our aim is to perform a genetic analysis of the AIRE gene in Italian APECED patients and in their relatives. Design AIRE mutations were determined by DNA sequencing in all subjects. Patients were tested for clinical autoimmune or non-autoimmune diseases, or for organ and non-organ specific autoantibodies. PATIENTS: A total of 24 Italian patients with APECED (15 from the Venetian region, 2 from Southern-Tyrol, 4 from Apulia, 3 from Sicily), 25 relatives and 116 controls were studied. RESULTS: Ten out of the 15 Venetian patients (66%) were homozygous for R257X or compound heterozygous with 1094-1106del13. One patient was homozygous for 1094-1106del13 and another for R139X. A novel mutation (1032-1033delGT) in combination with 1094-1106del13 was identified in one patient. No mutations were found in two cases. Two patients from Southern Tyrol were homozygous for R257X and for 1094-1106del13bp. All patients from Apulia were homozygous or heterozygous for W78R combined with Q358X. The patients from Sicily were homozygous for R203X or compound heterozygous with R257X. The analysis of the genotype-phenotype revealed that patients carrying 1094-1106del13 at the onset of Addison's disease were significantly older than those carrying other mutations. The genetic study of 25 relatives identified 20 heterozygous subjects. They suffered from various autoimmune and non-autoimmune diseases but no major disease of APECED was found. CONCLUSION: These data demonstrate the great genetic heterogeneity for the AIRE mutations in Italian APECED patients, and that the heterozygosity for AIRE mutations do not produce APECED.


Asunto(s)
Mutación/genética , Poliendocrinopatías Autoinmunes/etnología , Poliendocrinopatías Autoinmunes/genética , Factores de Transcripción/genética , Enfermedad de Addison/etnología , Enfermedad de Addison/genética , Adolescente , Adulto , Anciano , Candidiasis/etnología , Candidiasis/genética , Estudios de Casos y Controles , Niño , Estudios de Cohortes , Femenino , Heterocigoto , Homocigoto , Humanos , Hipoparatiroidismo/etnología , Hipoparatiroidismo/genética , Italia , Masculino , Persona de Mediana Edad , Adulto Joven , Proteína AIRE
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