The Home Observation for Measurement of the Environment Revisited

This review describes the Home Observation for Measurement of the Environment (HOME). After describing the structure of the instrument, it shows how it has been used successfully in studies on normally developing children and on samples drawn from high-risk populations. These are followed by studies showing how the HOME has been used to evaluate interventions. Although most interventions are not designed primarily on the basis of the HOME outcomes, the instrument has been used as a measure of the effectiveness of the intervention schedule. HOME has been used extensively in research to reveal relationships between several aspects of the home environment and children's developmental outcomes. The very good relationship between HOME scores and children's measures of developmental competence has also been found in non-normative populations and research has attempted to identify the specific aspects of the home environment, as indexed by the HOME subscales that reveal the strengths or the weaknesses of homes of at-risk populations.     

Unusual familial presentation of epsilon‐sarcoglycan gene mutation with falls and writer's cramp

Inherited myoclonus dystonia (M‐D, DYT11) is an autosomal dominant dystonia‐plus syndrome, which in many families is caused by mutations in the SGCE/ (epsilon‐sarcoglycan gene. We present a family with M‐D, with an unusual presentation characterized by infantile onset with falls in two sisters and adult‐onset writer's cramp in their father. Myoclonus dystonia is typically characterized by a variable mixture of alcohol‐sensitive myoclonic jerks and dystonia classically affecting mainly the proximal arms and neck. Leg involvement is less frequent, and to our knowledge, initial presentation with falls has not previously been described. The unusual phenotype of the family is discussed. © 2008 Movement Disorder Society.     

Mycobacterium tuberculosis transmission among high school students in Greece

BACKGROUND: The aim of this study was to investigate the requirements and practical steps for screening of Mycobacterium tuberculosis (MTB) transmission among high school student populations in two regional high schools of central Greece. Case-matched control populations from other regional schools were included. METHODS: Case study of two indexed cases, 61 close contacts, 212 casual contacts and 369 controls were investigated. Detailed questionnaires, tuberculin-skin test (PPD test), chest radiography, medical evaluation and DNA fingerprinting of sputum isolates were used. RESULTS: In case A, three (1.97%) of 152 close and casual contacts developed tuberculosis, and a further 25 (16.4%) were classified as infected. In contrast, none of the 121 close or casual contacts investigated for Case B developed tuberculosis or were classified as infected. None of the control populations contained infected individuals. Contacts of case A had a much higher risk (3.08 < RR = 22.29 < 161.69, P < 0.001) of being infected than contacts of case B. Two different strains of MTB were found responsible for these outbreaks. CONCLUSION: There was a considerable difference in the infectivity of the two cases presumably due to environmental and clinical factors, although two different MTB strains were responsible. It is proposed that the extent of case investigation should be individualized with particular emphasis placed among close contacts.     

FAK-Src-paxillin system expression and disease outcome in human neuroblastoma

Background: Neuroblastoma (NB) often presents with metastatic disease and poor survival. The need for new prognostic markers remains invaluable. The FAK-Src-Paxillin protein system is associated with aggressive phenotype in adult malignancies but is largely unexplored in pediatric NB. Objective: To assess FAK-Src-Paxillin protein expression in human NB cell lines and clinical cytology material and to delineate its association with survival. Design/Methods: Western blot and immunohistochemistry were applied for FAK-Src-Paxillin expression in NB cell lines and 23 human cytology specimens, respectively. Protein expression in human clinical samples was correlated with clinicopathological parameters, MYCN amplification and survival. Results: FAK, Src and Paxillin proteins are expressed in human NB cells lines, and can be detected in clinical cytology specimens from NB patients, (59%, 32% and 33% respectively). Simultaneous FAK-Src-Paxillin expression was noted in 30% of NB patients. Children with concomitant positivity FAK, Src, and Paxillin tumors, as well as MYCN amplification, had increased mortality compared to those without. Conclusions: FAK-Src-Paxillin system is a marker of unfavorable prognosis for human NB patients but also a promising therapeutic target.     

A transversal pilot study of oropharyngeal carriage of <Emphasis Type="Italic">Kingella kingae</Emphasis> in healthy children younger than 6 months

Background

The aim of this pilot study was to investigate the extent of oropharyngeal Kingella kingae carriage during the first 6 months of life.

Methods

We conducted a monocentric transversal pilot study on healthy children younger than 6 months in order to define the oropharyngeal carriage rate. Participants were recruited between December 2013 and September 2015 among children without symptoms or signs of invasive infections.

Results

We demonstrated an oropharyngeal carriage rate of 0.67% in children younger than 6 months. Due to the really low carriage rate, it was not possible to draw statistically significant conclusion about any other characteristic of our population.

Conclusions

The present study suggests that the oropharyngeal carriage of Kingella kingae among a Swiss population of healthy infants younger than 6 months is exceptional. The scarcity of colonization and disease in the early months of life suggests thus that defense against mucosal carriage and invasive infection is above all provided by vertically acquired immunity. Limited exposure of the neonates due to limited social contacts may also represent another factor avoiding neonates’ mucosal Kingella kingae carriage.

     

Physiopathological mechanisms related to inflammation in obesity and type 2 diabetes mellitus

Overweight, obesity, and type 2 diabetes mellitus pose global health problems that are ever-increasing. A chronic low-grade inflammatory status and the presence of various pro-inflammatory markers either in circulation or within dysfunctional metabolic tissues are well established. The presence of these factors can, to some extent, predict disease development and progression. A central role is played by the presence of dysfunctional adipose tissue, liver dysfunction, and skeletal muscle dysfunction, which collectively contribute to the increased circulatory levels of proinflammatory factors. Weight loss and classical metabolic interventions achieve a decrease in many of these factors’ circulating levels, implying that a better understanding of the processes or even the modulation of inflammation may alleviate these diseases. This review suggests that inflammation plays a significant role in the development and progression of these conditions and that measuring inflammatory markers may be useful for assessing disease risk and development of future treatment methods.     

Liver-specific ablation of integrin-linked kinase in mice results in abnormal histology, enhanced cell proliferation, and hepatomegaly

Hepatocyte differentiation and proliferation are greatly affected by extracellular matrix (ECM). Primary hepatocytes cultured without matrix dedifferentiate over time, but matrix overlay quickly restores differentiation. ECM also is critical in liver regeneration where ECM degradation and reconstitution are steps in the regenerative process. Integrin-linked kinase (ILK) is a cell-ECM-adhesion component implicated in cell-ECM signaling by means of integrins. We investigated the role of ILK in whole liver by using the LoxP/Cre model system. ILK was eliminated from the liver by mating homozygous ILK-floxed animals with mice expressing Cre-recombinase under control of the alpha fetoprotein enhancer and albumin promoter. After ablation of ILK, animals are born normal. Soon after birth, however, they develop histologic abnormalities characterized by disorderly hepatic plates, increased proliferation of hepatocytes and biliary cells, and increased deposition of extracellular matrix. Cell proliferation is accompanied by increased cytoplasmic and nuclear stabilization of beta-catenin. After this transient proliferation of all epithelial components, proliferation subsides and final liver to body weight ratio in livers with ILK deficient hepatocytes is two times that of wild type. Microarray analysis of gene expression during the stage of cell proliferation shows up-regulation of integrin and matrix-related genes and a concurrent down-regulation of differentiation-related genes. After the proliferative stage, however, the previous trends are reversed resulting in a super-differentiated phenotype in the ILK-deficient livers. CONCLUSION: Our results show for the first time in vivo the significance of ILK and hepatic ECM-signaling for regulation of hepatocyte proliferation and differentiation.