Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency

Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440–1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.     

Physiopathology of nitric oxide in the oral environment and its biotechnological potential for new oral treatments: a literature review

Clinical Oral Investigations - A narrative review on the NO properties and their relationship with the oral environment describing NO’s molecular origin, role, and perspectives regarding oral...     

Influence of visual feedback sampling on obstacle crossing behavior in people with Parkinson's disease

The purpose of the current study was to investigate the role of visual information on gait control in people with Parkinson's disease as they crossed over obstacles. Twelve healthy individuals, and 12 patients with mild to moderate Parkinson's disease, walked at their preferred speeds along a walkway and stepped over obstacles of varying heights (ankle height or half-knee height), under three visual sampling conditions: dynamic (normal lighting), static (static visual samples, similar to stroboscopic lighting), and voluntary visual sampling. Subjects wore liquid crystal glasses for visual manipulation. In the static visual sampling condition only, the patients with Parkinson's disease made contact with the obstacle more often than did the control subjects. In the successful trials, the patients increased their crossing step width in the static visual sampling condition as compared to the dynamic and voluntary visual sampling conditions; the control group maintained the same step width for all visual sampling conditions. The patients showed lower horizontal mean velocity values during obstacle crossing than did the controls. The patients with Parkinson's disease were more dependent on optic flow information for successful task and postural stability than were the control subjects. Bradykinesia influenced obstacle crossing in the patients with Parkinson's disease.     

Attitudes, Skills and Knowledge Change in Child and Adolescent Mental Health Workers Following AOD Screening and Brief Intervention Training

Adolescent mental health workers are generally poor at identifying and treating co-existing alcohol and other drug (AOD) disorder. This study aimed to evaluate the utility and acceptability of an AOD screening and brief intervention (BI) training package delivered to child and adolescent mental health workers and its impact on relevant attitudes, skills and knowledge. Quantitative data was collected before and after the BI training using a 55-item questionnaire. Focus groups explored issues around AOD screening and BI implementation in practice. The questionnaire and focus group were repeated 10 months later to ascertain change in behaviour. The BI training was well-received and led to improvements in attitudes, skills and knowledge around AOD screening and BI in youth mental health practitioners. Positive change in participants’ attitudes to performing screening and BI were demonstrated. Low response rates at follow-up limited analysis of behaviour change.     

Dementia studies in Chinese populations

Variations in the prevalence of dementia in different ethnic groups have been reported worldwide, and a number of reviews have provided a picture of epidemiological studies in dementia research. However, little is known about epidemiological studies in Chinese populations. In this review, we searched PubMed and the Web of Science for original research articles published in English up to July 2013 on the prevalence, incidence, risk factors, and prognosis of dementia in Chinese populations worldwide. Except for the prevalence, we included only population-based follow-up studies. We identified 25 studies in elderly Chinese residents in Mainland China, Hong Kong, Taiwan, and Singapore, and found a higher prevalence of dementia in Mainland China than in the other locations, which may be due to that the studies from Mainland China are more recent than those from other locations. A notable increase in incidence was observed when dementia cases were diagnosed using 10/66 diagnostic criteria compared to other criteria. Studies on risk factors for dementia were limited and mostly from Mainland China. Age, gender, education, smoking, and alcohol consumption were related to the risk of dementia in Chinese populations. Only two prognostic studies were identified, and age, gender, and residential area were related to the prognosis of dementia. In conclusion, the prevalence, incidence, and risk factors for dementia found in Chinese populations were comparable to other ethnic groups, but no conclusive results on prognosis were found. The differences in prevalence and incidence were influenced by the diagnostic criteria and the time of study. Longitudinal population-based studies on the incidence, risk factors, and prognosis of dementia in Chinese populations are required.     

Facilitating the WHO expanded program of immunization: the clinical profile of a combined diphtheria, tetanus, pertussis, hepatitis B and Haemophilus influenzae type b vaccine.

BACKGROUND: Vaccines are important weapons in the fight against infectious diseases. The World Health Organization (WHO) Expanded Program on Immunization (EPI) has been extended to include recommendations for hepatitis B and Haemophilus influenzae type b (Hib) vaccinations. The WHO has recommended that combined vaccines be used where possible, to reduce the logistic costs of vaccine delivery. This paper reviews the efficacy, safety and cost-effectiveness of Tritanrix-HB/Hib, the only commercially available combined diphtheria, tetanus, whole cell pertussis, hepatitis B and conjugated Hib vaccine. METHODS: The immunogenicity and reactogenicity results of five published clinical trials involving Tritanrix-HB/Hib in a variety of immunization schedules and countries were reviewed. Based on these data and cost-effectiveness studies, an assessment of its suitability for use in national immunization programs was made. RESULTS: Tritanrix-HB/Hib has shown excellent immunogenicity in clinical trials using a variety of schedules, with no reduced immunogenicity observed for any of the components of the combined vaccine. It has similar reactogenicity to DTPw vaccines alone. Pharmacoeconomic analyses have shown combined DTP-HB/Hib vaccines to be cost-effective compared to separate vaccines. CONCLUSIONS: Replacement of DTPw vaccination by Tritanrix-HB/Hib can be done without modifying the existing national immunization programs. This should facilitate widespread coverage of hepatitis B and Hib vaccinations and their rapid incorporation into the EPI.