Adherence among Italian paediatricians to the Italian guidelines for the management of fever in children: a cross sectional survey

BACKGROUND: Italian guidelines for the management of fever in children (IFG) have been published in 2009 and thereafter disseminated in all country. A survey was conducted before their publication and three years later to investigate their impact on knowledge and behaviors of paediatricians. METHODS: A questionnaire was administered to convenient samples of paediatricians in 2009 and in 2012, eliciting information about fever definition, methods of temperature measurement, and antipyretic use. Differences in responses between 2009 and 2012 and between paediatricians who were or were not aware of the IFG were evaluated. RESULTS: The responses rates were 74% (480/648) in 2009 and 69% (300/434) in 2012. In 2012 168/300 (56%) of participants were aware of the IFG. The proportion of paediatricians who correctly would never suggest the use of physical methods increased from 18.7% to 36.4% (P < 0.001). In 2009 11% of paediatricians declared that the use of antipyretic drugs depends on patient discomfort and did not use a temperature cut off. In 2012 this percentage reached 45.3% (P < 0.001). Alternate use of antipyretics decreased from 27.0% to 11.3% (P < 0.001). Use of rectal administration of antipyretics in absence of vomiting decreased from 43.8% in 2009 to 25.3% in 2012 (P < 0.001). In general, improvements were more striking in paediatricians who were aware of the IFG than in those who were not aware of them. CONCLUSIONS: Behaviours of Italian paediatricians improved over time. However, some wrong attitudes need to be further discouraged, including use of physical methods and misuse of rectal administration. Further strategy to disseminate the IFG could be needed

Complete Androgen Insensitivity Syndrome: From Bench to Bed

Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS

Complete Androgen Insensitivity Syndrome: From Bench to Bed

Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS

Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis

Ataxia telangiectasia (AT) is a rare disease characterized by the early onset and slow progression of neurodegenerative defects, mainly affecting the cerebellum, associated with immunodeficiency and teleangiectasias. Ataxia is the hallmark of the disease and usually its first manifestation. Overt cerebellar ataxia usually becomes evident between 16 and 18 months of age, after the onset of walking, and is characterized by frequent falls and an ataxic gait with an enlarged base. We report the case of a child who first presented with serious recurrent infectious, without exhibiting neurological symptoms. The patient was initially diagnosed with combined immunodeficiency (CID) of unknown etiology for nearly 3 years, before he was definitively diagnosed with ataxia telangiectasia