Two new families with hereditary minimal change disease.

BACKGROUND: Steroid-sensitive idiopathic nephrotic syndrome (SSINS) is most often encountered in sporadic cases of minimal change disease (MCD). Only rare cases of familial forms of MCD have been reported and most of them only in one generation. The scarcity of data has precluded unraveling the underlying genetic defect and candidate gene approaches have been unsuccessful. Here we report two families with related SSINS cases and review the related literature. CASE PRESENTATION: Two siblings and a cousin (first family), and a father and his son (second family), are reported with SSINS due to MCD. Patients have been followed up for more than 12 years and a renal biopsy was performed in three cases, demonstrating typical features of MCD. The course of the disease was remarkable because of several relapses treated with steroids. In three cases, mycophenolate mofetil or cyclosporine was added. CONCLUSION: Familial SSINS due to MCD is extremely rare and no genetic defect has been identified so far. Reporting cases of hereditary MCD will allow further genetic studies which will ultimately help unravel the molecular basis of this disease.

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

Inherited retinal dystrophies are phenotypically and genetically heterogeneous. This extensive heterogeneity poses a challenge when performing molecular diagnosis of patients, especially in developing countries. In this study, we applied homozygosity mapping as a tool to reduce the complexity given by genetic heterogeneity and identify disease-causing variants in consanguineous Pakistani pedigrees. DNA samples from eight families with autosomal recessive retinal dystrophies were subjected to genome wide homozygosity mapping (seven by SNP arrays and one by STR markers) and genes comprised within the detected homozygous regions were analyzed by Sanger sequencing. All families displayed consistent autozygous genomic regions. Sequence analysis of candidate genes identified four previously-reported mutations in CNGB3, CNGA3, RHO, and PDE6A, as well as three novel mutations: c.2656C > T (p.L886F) in RPGRIP1, c.991G > C (p.G331R) in CNGA3, and c.413-1G > A (IVS6-1G > A) in CNGB1. This latter mutation impacted pre-mRNA splicing of CNGB1 by creating a -1 frameshift leading to a premature termination codon. In addition to better delineating the genetic landscape of inherited retinal dystrophies in Pakistan, our data confirm that combining homozygosity mapping and candidate gene sequencing is a powerful approach for mutation identification in populations where consanguineous unions are common.

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

Inherited retinal dystrophies present extensive phenotypic and genetic heterogeneity, posing a challenge for patients' molecular and clinical diagnoses. In this study, we wanted to clinically characterize and investigate the molecular etiology of an atypical form of autosomal recessive retinal dystrophy in two consanguineous Spanish families. Affected members of the respective families exhibited an array of clinical features including reduced visual acuity, photophobia, defective color vision, reduced or absent ERG responses, macular atrophy and pigmentary deposits in the peripheral retina. Genetic investigation included autozygosity mapping coupled with exome sequencing in the first family, whereas autozygome-guided candidate gene screening was performed by means of Sanger DNA sequencing in the second family. Our approach revealed nucleotide changes in CDHR1; a homozygous missense variant (c.1720C > G, p.P574A) and a homozygous single base transition (c.1485 + 2T > C) affecting the canonical 5' splice site of intron 13, respectively. Both changes co-segregated with the disease and were absent among cohorts of unrelated control individuals. To date, only five mutations in CDHR1 have been identified, all resulting in premature stop codons leading to mRNA nonsense mediated decay. Our work reports two previously unidentified homozygous mutations in CDHR1 further expanding the mutational spectrum of this gene.

Families in the Shadow of Cancer

The aims of this study were 1) to clarify the factors associated with family functioning in cancer patient’s families with dependant children, 2) to examine children’ mental health when they are exposed to parental cancer, 3) to explore the subjective experience of having cancer during pregnancy, and finally, 4) to describe the implementation of a childcentred family intervention for cancer patients’ families with dependant children in an adult oncology setting. The study groups were collected between May 1st 2002 and April 30th 2004. They consisted of one European group collected from six different countries (N = 381) and two Finnish clinical groups (N = 85 and N = 2). The first Finnish clinical group of 85 cancer patient families with dependant children included a sub-sample of 54 families with children aged 11-17 years. The second Finnish clinical group consisted of two pregnant cancer patients. Additionally, a control group (N = 59) consisting of a sub-sample of 49 families with children aged 11-17 years was used. Quantitative methods (FAD, BDI, YSR, SOC, SF-8) and qualitative methods (observation, interviews, diaries, videotapes) were used exclusively and/or in combination. The results can be summarised as follows: 1) cancer “per se “ did not impair family functioning, children’s mental health, early interaction between ill mothers and their infant, 2) maternal depression or the ill parent’s depression were significantly associated with impairment in family functioning, 3) the individual’s good sense of coherence was associated with improvement in family functioning, and 4) a child-centred family intervention, which aims to give space for elaborating on cancer in the family, validates the sense of coherence and children’s feelings, and promotes open communication was welcomed. It is important to note that in the European study group, the prevalence of depression was 35 % (BDI > 16) among ill mothers, and 28% among healthy mothers, 28% among ill fathers, and 13% among healthy fathers. Early screening and effective treatment of depression in cancer patients and their partners is of paramount importance for the mental health of children and the well-being of the family. Pregnant cancer patients are in need of psychosocial support.

Researching on and with Young People: Collaborating and Educating. Investigar con y sobre los jóvenes colaborando y educando

This paper reports on collaborative research on and with young people. In this study five groups of students in the final year of their Compulsory Secondary Education (CSE) from five different schools developed five ethnographic studies about how they communicate, express themselves and learn inside and outside school, with the support and collaboration of teachers and members of our research group. The paper begins by discussing the dimensions of collaboration in education, taking into account the contribution of collaborative and ooperative learning, and the potential of digital resources, situating earlier influences and characterizing the work realised. Then there is a description of the research carried out on and with the young people we invited to perform as investigators. The results focus on the description and conceptualization of the different types of collaboration that have emerged while carrying out the ethnographic studies in each of the schools using digital technologies. Finally, we discuss the implications and limitations of the work as a contribution to anyone interested in researching on and with young people, collaborating, educating and using digital resources.

Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil

Of all malignant neoplasias affecting women, breast cancer has the highest incidence rate in Brazil. The objective of the present study was to determine the frequency of genetic modifications in families with medium and high risk for breast and ovarian cancer from different regions of Brazil. An exploratory, descriptive study was carried out on the prevalence of the BRCA1 and BRCA2 mutations in case series of high-risk families for breast and/or ovarian cancer. After heredogram construction, a blood sample was taken and DNA extraction was performed in all index cases. The protein truncation test was used to screen for truncated mutations in exon 11 of the BRCA1 gene and in exons 10 and 11 of the BRCA2 gene. Of the 612 individuals submitted to genetic testing, 21 (3.4%), 19 women and 2 men, had mutations in the BRCA1 or BRCA2 genes. Of the 19 BRCA1 mutations found in the 18 participants, 7 consisted of ins6kb mutations, 4 were 5382insC, 3 were 2156delGinsCC, 2 were 185delAG, 1 was C1201G, 1 was C3522T, and 1 was 3450del4. With respect to the BRCA2 gene, 3 mutations were found: 5878del10, 5036delA and 4232insA (one case each). The prevalence of germline mutations in the BRCA1 and BRCA2 genes found in the present study was lower than reported by other studies on high-risk Brazilian populations. The inclusion of individuals with medium risk may have contributed to the lower prevalence observed.

Young children's behavioral responses to the distress of others /

The relationship between child temperament and parenting factors in the development of prosocial behavior during the toddler years was investigated by examining children's helping behaviors and responses to the distress of others as observed and as reported by mothers and teachers. These behaviors were linked to the sociability, emotionality, and attention shifting of toddlers. Children who are relatively high in characteristics such as language skills and sociability appear more likely to exhibit competent prosocial behaviors than children who are relatively low in these skills. Prosocial competence was also linked to maternal comfort, maternal control over children's emotions, and family expressiveness, although the latter two variables related to children's behaviors differently, depending on whether children were low or high in emotional intensity.

Actual and perceived coaches' sportspersonship behaviours and their relationship with young athletes' sportspersonship orientations

Hom' s (2008) model of coaching effectiveness provides a framework that outlines the antecedent factors that influence coaches' behaviours as well as the way in which coaches' behaviours can influence the psychosocial development of athletes. Perceived coaches" behaviours have been shown to predict the self-reported unsportspersonlike behaviours of young athletes (Shields et aI., 2007). However, very few studies have examined actual coaches' sportspersonship behaviours (Arthur-Banning et aI., 2009; Cote et aI., 1993; Trudel e t aI., 1991). The purpose of this exploratory study was to investigate the relationships between coaches' and athletes' sportspersonship orientations and behaviours. Participants included competitive male basketball coaches (N = 5) and their male athletes aged 10 to 13 (N= 48). Two investigators systematically observed coaches' sportspersonship behaviours. Subsequently, coaches and athletes completed questionnaires based on the Multidimensional Sportspersonship Orientations Scale (MSOS; Vallerand et aI., 1997). The results showed that coaches' self-reported sportspersonship orientations and athletes' perceptions of their coaches behaviours were consistent with coaches' actual behaviours for respect for the rules and officials as well as for social conventions. A series of multiple regressions were conducted in order to determine whether or not athletes' perceptions of their coaches' sportspersonship behaviours predicted the sportspersonship orientations of athletes. The only significant regression model was for athletes' negative approach toward sport participation. The results also suggest that the MSOS has reliability and validity issues.

A Home Literacy Handbook for Parents With Preschool Children

The purpose of this project was to provide parents with an awareness of the role that they play in their preschool children's literacy and reading development and to create a practical handbook that parents can use to teach early literacy and reading skills to their preschool children in their home environment. The handbook was created in response to the literature that confirmed that the children benefit from developing emergent literacy skills before they enter school in kindergarten or grade 1. In addition to the information gathered from the academic literature, needs assessments were conducted in order to hear perspectives from multiple stakeholders involved in the context of this project. The needs assessment questionnaires were conducted with 4 Ontario certified grade 1 and 2 teachers, and 4 parents with preschool children or children in kindergarten or grade 1. Data collected from these participants highlighted the needs of parents and were used to create a comprehensive handbook that will hopefully be accessible and useful to a wide parent audience. The results of the research project indicated that parents would, in fact, benefit from having access to a resource such as this handbook to assist in teaching the 4 components of emergent literacy to their preschool children––oral language, alphabet knowledge, phonological awareness, and print awareness––to their preschool children.

Photograph - Two Women with Two Children

A photograph of two women standing with two small boys seated in front. They are in a garden.

Photograph - Two Women with Two Children and a doll

A photograph of two elderly women with two small children. The children are holding a doll between them as they stand in the grass outside of a home.

Models of teaching foreign languages to young children. 'Modelos de enseñanza de lenguas extranjeras en Educación Infantil'.

Resumen tomado del autor. Resumen también en francés e inglés