Variant in Central Centrifugal Cicatricial Alopecia.

Background: Central centrifugal cicatricial alopecia (CCCA) is the most common form of scarring alopecia among women of African ancestry. The disease is occasionally observed to affect women in families in a manner that suggests an autosomal dominant trait and usually manifests clinically after intense hair grooming. We sought to determine whether there exists a genetic basis of CCCA and, if so, what it is.

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.

Hypotrichosis simplex (HS) is a rare form of hereditary alopecia characterized by childhood onset of diffuse and progressive scalp and body hair loss. Although research has identified a number of causal genes, genetic etiology in about 50% of HS cases remains unknown. The present report describes the identification via whole-exome sequencing of five different mutations in the gene LSS in three unrelated families with unexplained, potentially autosomal-recessive HS.

The combination of bortezomib with chemotherapy to treat relapsed/refractory acute lymphoblastic leukaemia of childhood.

Achieving complete remission (CR) in childhood relapsed/refractory acute lymphoblastic leukaemia (ALL) is a difficult task. Bortezomib, a proteasome inhibitor, has in vitro activity against ALL blasts. A phase I-II trial, reported by the Therapeutic Advances in Childhood Leukaemia and Lymphoma (TACL) consortium, demonstrated that bortezomib with chemotherapy has acceptable toxicity and remarkable activity in patients with relapsed ALL failing 2-3 previous regimens.

Women participating in a web-based preconception study have a high prevalence of risk factors for adverse pregnancy outcomes.

Background: Adverse pregnancy outcomes (APOs) can be increased by preconception risk factors and lifestyles.We measured the prevalence of preconception risk factors for APOs in a population of Italian women of childbearing age enrolled in a web-based study.

Methods: Participants were enrolled through a web platform (http://www.

A cohort study of a tailored web intervention for preconception care.

Background: Preconception care may be an efficacious tool to reduce risk factors for adverse pregnancy outcomes that are associated with lifestyles and health status before pregnancy. We conducted a web-based cohort study in Italian women planning a pregnancy to assess whether a tailored web intervention may change knowledge and behaviours associated with risks for adverse pregnancy outcomes.

Methods: The study was entirely conducted on the web on a cohort of Italian women of childbearing age.

The effect of physician's recommendation on seasonal influenza immunization in children with chronic diseases.

Background: Despite recommendations by Health Authorities, influenza immunization coverage remains low in children with chronic diseases. Different medical providers involved in the management of children with chronic conditions may affect the pattern of influenza vaccine recommendations and coverage. The likelihood of vaccination by type of provider in children with chronic conditions is poorly understood.

Effect of duration of breastfeeding on neuropsychological development at 10 to 12 years of age in a cohort of healthy children.

Aim: The aim of this article was to explore the effect of duration of breastfeeding on neurocognitive development.

Method: The long-term effect of breastfeeding on neurodevelopment was examined through a battery of neuropsychological tests in 1403 children (693 females, 710 males; mean age 11 y 9mo [SD 6mo], range: 10y 3mo-12y 8mo) who were originally recruited at 6 to 12 weeks of age for a clinical trial on acellular pertussis vaccines. An estimated IQ was obtained from scores of the vocabulary, similarities, block design, and coding tests.

Use of the internet by Italian pediatricians: habits, impact on clinical practice and expectations.

Background: Medical professionals go online for literature searches and communication with families.We administered a questionnaire to members of the Italian Society of Pediatrics to assess determinants of their use of the Internet, of social platforms and of personal health records during clinical practice.

Methods: All the 9180 members of the Italian Society of Pediatrics were invited to fill in a questionnaire concerning use of the Internet and usefulness of Internet-based tools during clinical practice.

Seasonal and pandemic influenza vaccine: recommendations to families of at-risk children during the 2009-10 season.

We performed a study in three Italian regions to evaluate the association between provided recommendations and immunization uptake of the two influenza vaccines in children with chronic diseases. We interviewed families of 119 at-risk children, collecting information regarding recommendations and immunizations against pandemic and seasonal influenza. In total 60.

Detection of Streptococcus pneumoniae and identification of pneumococcal serotypes by real-time polymerase chain reaction using blood samples from Italian children ≤ 5 years of age with community-acquired pneumonia.

Streptococcus pneumoniae is a leading cause of severe life-threatening infections. Laboratory identification and serotyping of this pathogens is desirable to monitor vaccine impact and coverage; however, especially in pediatric patients, the yield of traditional microbiological diagnostic procedures can be very low. The aim of this study was to develop real-time polymerase chain reaction (PCR)-based assays to be performed directly on blood samples to identify the most common capsular serotypes causing pneumonia in Italian children (≤ 5 years of ages) after the introduction of the 7-valent conjugate vaccine.

Switched memory B cells maintain specific memory independently of serum antibodies: the hepatitis B example.

The immunogenicity of a vaccine is conventionally measured through the level of serum Abs early after immunization, but to ensure protection specific Abs should be maintained long after primary vaccination. For hepatitis B, protective levels often decline over time, but breakthrough infections do not seem to occur. The aim of this study was to demonstrate whether, after hepatitis B vaccination, B-cell memory persists even when serum Abs decline.

Close encounters in a pediatric ward: measuring face-to-face proximity and mixing patterns with wearable sensors.

Background: Nosocomial infections place a substantial burden on health care systems and represent one of the major issues in current public health, requiring notable efforts for its prevention. Understanding the dynamics of infection transmission in a hospital setting is essential for tailoring interventions and predicting the spread among individuals. Mathematical models need to be informed with accurate data on contacts among individuals.

Surfing the web during pandemic flu: availability of World Health Organization recommendations on prevention.

Background: People often search for information on influenza A(H1N1)v prevention on the web. The extent to which information found on the Internet is consistent with recommendations issued by the World Health Organization is unknown.

Methods: We conducted a search for "swine flu" accessing 3 of the most popular search engines through different proxy servers located in 4 English-speaking countries (Australia, Canada, UK, USA).