Pulmonary hypertension complicating isolated atrial septal defect.

Atrial septal defect (ASD) typically is asymptomatic in infancy and early childhood and elective defect closure usually is performed at an age between 4 - 6 years. Severe pulmonary hypertension (PHT) complicating an ASD is seen in adulthood and has only occasionally been reported in small children. A retrospective study was undertaken to evaluate the incidence of severe PHT complicating an isolated ASD and requiring early surgical correction in the fi rst year of life. 355 pediatric patients underwent treatment for an isolated ASD either surgically or by catheter intervention during a 10 year period (1996 - 2006) at two tertiary referral centers. 297 patients had secundum ASD and 58 primum ASD with mild to moderate mitral regurgitation. 8 infants were found with isolated ASD (six with secundum and two with primum ASD) associated with signifi cant PHT, accounting for 2.2% of all ASD patients in our centers. These 8 infants had invasively measured pulmonary artery pressures between 50 and 100% of systemic pressure. Median size of the ASD at the time of surgery was 14mm (7 - 20). They were operated in the fi rst year of life and had complicated postoperative courses requiring specifi c treatment for PHT for up to 16 weeks (median 12) postoperatively. Compared to ASD patients without PHT these infants had prolonged postoperative ICU stay of 5 - 9 days (median 8) and prolonged perioperative overall hospital stay of 8 - 32 days (median 15). Ultimate outcome in all 8 infants was good with persistent normalization of pulmonary pressures during mid-term follow-up of between 8 to 60 months (median 28). All other ASD patients had normal pulmonary pressures and mean age at defect closure was higher being 6.2 years for secundum ASD and 3.2 years for primum ASD. In conclusion, ASD is rarely associated with signifi cant PHT in infancy but then requires early surgery to normalize the prognosis of the patients.

Axial spondylometaphyseal dysplasia: Additional reports.

Axial spondylometaphyseal dysplasia (SMD) (OMIM 602271) is an uncommon skeletal dysplasia characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora, and retinal abnormalities. The disorder has not attracted much attention since initially reported; however, it has been included in the nosology of genetic skeletal disorders [Warman et al. (2011); Am J Med Genet Part A 155A:943-968] in part because of a recent publication of two additional cases [Isidor et al. (2010); Am J Med Genet Part A 152A:1550-1554]. We report here on the clinical and radiological manifestations in seven affected individuals from five families (three sporadic cases and two familial cases). Based on our observations and Isidor's report, the clinical and radiological hallmarks of axial SMD can be defined: The main clinical findings are postnatal growth failure, rhizomelic short stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and function rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on fundoscopic examination and cone-rod dystrophy on electroretinogram. The radiological hallmarks include short ribs with flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. Equally affected sibling pairs of opposite gender and parental consanguinity are strongly suggestive of autosomal recessive inheritance. © 2011 Wiley-Liss, Inc.

Frequency of severe pulmonary hypertension complicating "isolated" atrial septal defect in infancy.

Atrial septal defects (ASDs) are typically asymptomatic in infancy and early childhood, and elective defect closure is usually performed at ages of 4 to 6 years. Severe pulmonary hypertension (PH) complicating an ASD is seen in adulthood and has only occasionally been reported in small children. A retrospective study was undertaken to evaluate the incidence of severe PH complicating an isolated ASD and requiring early surgical correction. During a 10-year period (1996 to 2006), 355 pediatric patients underwent treatment for isolated ASDs either surgically or by catheter intervention at 2 tertiary referral centers. Two hundred ninety-seven patients had secundum ASDs, and 58 had primum ASDs with mild to moderate mitral regurgitation. Eight infants were found with isolated ASDs (6 with secundum ASDs and 2 with primum ASDs) associated with significant PH, accounting for 2.2% of all patients with ASDs at the centers. These 8 infants had invasively measured pulmonary artery pressures of 50% to 100% of systemic pressure. They were operated in the first year of life and had complicated postoperative courses requiring specific treatment for PH for up to 16 weeks postoperatively. The ultimate outcomes in all 8 infants were good, with persistent normalization of pulmonary pressures during midterm follow-up of up to 60 months (median 28). All other patients with ASDs had normal pulmonary pressures, and the mean age at defect closure was significantly older, at 6.2 years for secundum ASDs and 3.2 years for primum ASDs. In conclusion, ASDs were rarely associated with significant PH in infancy but then required early surgery and were associated with excellent midterm outcomes in these patients.

Issue review : state funding for preschool.

The state provides funds for preschool programming through several annual and standing appropriations. The funds are received and managed by a variety of local and state entities, including local school districts, Area Education Agencies, or AEAs, the Child Development Coordinating Council, the Department of Education, and local early childhood Iowa boards. This document also provides limited information on the federally funded Head Start Program, the largest source of preschool funding in Iowa.

Programa d'intervenció d'educació emocional i social per a l'etapa infantil: l'educació de la consciència emocional i l'autoestima

L’objectiu d’aquest treball és comprovar si l’aplicació d’un programa d’educació emocional i social millora el benestar emocional i social dels infants d’Educació Infantil. Per tal d’assolir aquest objectiu, primerament es va triar una mostra de 4 infants per realitzar el test PAI (Precepció de l’Autoconcepte Infantil) i així, mesurar el seu nivell d’autoestima. Després es va aplicar el programa d’educació emocional i social a l’aula, treballant la consciència emocional i l’autoestima. Seguidament es va tornar a realitzar el test PAI per poder observar i mesurar els canvis en el percentil dels mateixos 4 infants. S’han observat unes millores en el nivell d’autoestima dels nens i nenes de l’aula; s’ha adquirit una bona consciència emocional i s’han anat desenvolupant habilitats socioemocionals i, per tant, ha millorat el clima de l’aula. El treball de l’educació emocional i social a les aules és necessari per millorar el benestar emocional i social dels infants i així, ajudar en seu desenvolupament integral.

The baby and the couple : understanding and treating young families

The Baby and the Couple provides an insider's view on how infant communication develops in the context of the family and how parents either work together as a team or struggle in the process. The authors present vignettes from everyday life as well as case studies from a longitudinal research project of infants and their parents interacting together in the Lausanne Trilogue Play (LTP), an assessment tool for very young families. Divided into three parts, the book focuses not only on the parents, but also on the infant's contribution to the family. Part 1 presents a case study of Lucas and his family, from infancy to age 5. With each chapter we see how, in the context of their families, infants learn to communicate with more than one person at a time. Part 2 explores how infants cope when their parents struggle to work together - excluding, competing or only connecting through their child. The authors follow several case examples from infancy through to early childhood to illustrate various forms of problematic co-parenting, along with the infant's derailed trajectory at different ages and stages. In Part 3, prevention and intervention models based on the LTP are presented. In addition to an overview of these programs, chapters are devoted to the Developmental Systems Consultation, which combines use of the LTP and video feedback, and a new model, Reflective Family Play, which allows whole families to engage in treatment. The Baby and the Couple is a vital resource for professionals working in the fields of infant and preschool mental health including psychiatrists, psychologists, social workers, family therapists and educators, as well as researchers.

Resources for career education, 1977.

This document contains a multitude of resources for career education available to Iowans from many sources.

La intervenció clínica en l'àmbit de la petita infància

La pràctica terapèutica en l'àmbit de la petita infància: detecció, avaluació i intervenció psicològica en nens des de la perspectiva psicoanalítica.

Elementary literature, 1948

Iowa Elementary Teachers handbook, vol. 13

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

Progressive pseudorheumatoid dysplasia (PPRD) is a genetic, non-inflammatory arthropathy caused by recessive loss of function mutations in WISP3 (Wnt1-inducible signaling pathway protein 3; MIM 603400), encoding for a signaling protein. The disease is clinically silent at birth and in infancy. It manifests between the age of 3 and 6 years with joint pain and progressive joint stiffness. Affected children are referred to pediatric rheumatologists and orthopedic surgeons; however, signs of inflammation are absent and anti-inflammatory treatment is of little help. Bony enlargement at the interphalangeal joints progresses leading to camptodactyly. Spine involvement develops in late childhood and adolescence leading to short trunk with thoracolumbar kyphosis. Adult height is usually below the 3rd percentile. Radiographic signs are relatively mild. Platyspondyly develops in late childhood and can be the first clue to the diagnosis. Enlargement of the phalangeal metaphyses develops subtly and is usually recognizable by 10 years. The femoral heads are large and the acetabulum forms a distinct "lip" overriding the femoral head. There is a progressive narrowing of all articular spaces as articular cartilage is lost. Medical management of PPRD remains symptomatic and relies on pain medication. Hip joint replacement surgery in early adulthood is effective in reducing pain and maintaining mobility and can be recommended. Subsequent knee joint replacement is a further option. Mutation analysis of WISP3 allowed the confirmation of the diagnosis in 63 out of 64 typical cases in our series. Intronic mutations in WISP3 leading to splicing aberrations can be detected only in cDNA from fibroblasts and therefore a skin biopsy is indicated when genomic analysis fails to reveal mutations in individuals with otherwise typical signs and symptoms. In spite of the first symptoms appearing in early childhood, the diagnosis of PPRD is most often made only in the second decade and affected children often receive unnecessary anti-inflammatory and immunosuppressive treatments. Increasing awareness of PPRD appears to be essential to allow for a timely diagnosis. © 2012 Wiley Periodicals, Inc.

Neuropathogenesis in glutaric aciduria type I and methylmalonic aciduria

Glutaric aciduria type-I (GA-I) and methylmalonic aciduria (MMA-uria) are two neurometabolic diseases manifesting in neonatal period and early childhood. They belong to the group of organic acidurias and are caused by defects in the catabolism of amino acids, leading to massive accumulation of toxic metabolites in the body and severe brain injury. Therapeutic strategies are mainly based on reversing catabolic state during metabolic crisis and dietary protein restriction that both aim to prevent extra production of toxic metabolites. Specific and neuroprotective treatments are missing because the mechanisms of brain damage in these diseases are only poorly understood. The principal objective of my work was to develop in vitro models for both diseases aiming at elucidation of toxic effects of the main metabolites accumulating in GA-I (glutaric acid (GA) and 3-hydroxy glutaric acid (3-OHGA)) and MMA-uria (methylmalonic acid (MMA), propionic acid (PA) and 2-methylcitric acid (2-MCA)) on developing brain cells, and to study the cellular pathways targeted by these deleterious effects in order to find new therapeutic potentials. We used re-aggregated embryonic rat brain cells in organotypic 3D cultures, which were exposed to toxic metabolites at different developing stages of the cultures. In parallel, we studied the cellular localization of the defected enzyme in GA-I, glutaryl-CoA dehydrogenase (GCDH), in the brain and peripheral tissues of rats in adulthood and during embryonic development. GCDH expression: GCDH showed a strong neuronal expression in embryonic central and peripheral nervous system. In the adult brain, GCDH expression was exclusively neuronal with the strongest signal in cerebral cortex and Purkinje cells. GCDH expression was homogenous in embryonic peripheral organs with high levels in intestinal mucosa at late stages. Strong GCDH expression was also observed in liver and intestinal mucosa and with lower intensity in muscles, convoluted renal tubules and renal collecting tubes in adult peripheral organs. GA-I and MMA-uria in vitro models: 3-OHGA (for GA-I) and 2-MCA (for MMA-uria) showed the most deleterious effects at early stages of the cultures with morphological and biochemical alterations and induction of cell death. 3-OHGA and 2-MCA caused astrocytic cell suffering reflected by astrocytic fiber loss and swelling and retardation in oligodendrocytic maturation and/or differentiation. High ammonium increase concomitant with glutamine decrease was observed in these cultures. Neurons were not substantially affected. Our studies revealed that brain-cell generated ammonia may play a role in the neuropathogenesis of these diseases. Thus, developing neuroprotective strategies that target ammonium toxicity in the brain of GA-I and MMA-uria patients might be important according to our findings. -- L'acidurie glutarique de type I (GA-I) et l'acidurie méthylmalonique (MMA-urie) sont deux maladies neurométaboliques se manifestant durant la période néonatale ou la petite enfance, et qui appartiennent aux aciduries organiques. Elles sont causées par des défauts dans le catabolisme des acides aminés, conduisant à une accumulation des métabolites toxiques dans le corps et aussi des lésions cérébrales sévères. Le traitement est limité à une prise en charge d'urgence pendant la crise métabolique et à une diète restreinte en protéines naturelles. Des traitements spécifiques, neuroprotecteurs manquent principalement parce que les mécanismes conduisant aux lésions cérébrales dans ces maladies sont peu connus. L'objectif principal de mon travail était d'élucider les effets toxiques des métabolites accumulés dans GA-I (l'acide glutarique (GA) et l'acide 3-hydroxyglutarique (3-OHGA)) et MMA-uria (l'acide méthylmalonique (MMA), l'acide propionique (PA) et l'acide 2-méthylcitrique(2-MCA) sur les cellules du cerveau ainsi que les voies cellulaires impliquées, dans le but de trouver de potentielles nouvelles stratégies thérapeutiques. Nous avons utilisé un modèle in vitro de cultures 3D de cellules de cerveau d'embryons de rat (en développement) en les exposant aux métabolites toxiques à différents stades de développement des cultures. En parallèle, nous avons étudié la localisation cellulaire de l'enzyme déficiente dans GA-I, la CoA-glutarly déshydrogénase (GCDH), dans le cerveau et les organes périphériques des rats adultes et pendant le développement embryonnaire. L'expression de GCDH: GCDH a montré une expression neuronale forte dans le système nerveux chez l'embryon et le cerveau adulte. L'expression était homogène dans les organes périphériques avec une forte expression dans l'intestin. Les modèles in vitro de GA-I et MMA-uria : 3-OHGA en modèle GA-I et 2-MCA en modèle MMA-uria ont montré les effets délétères les plus importants avec des altérations morphologiques des cellules et biochimiques dans le milieu de culture et l'induction de mort cellulaire non-apoptotique (3-OHGA) ou apoptotique (2-MCA). 3-OHGA et 2-MCA ont provoqué une souffrance astrocytaire avec perte des fibres et gonflement et un retard de maturation et/ou de différentiation des oligodendrocytes. Une augmentation importante d'ammonium avec une diminution concomitante de glutamine a été observée dans les cultures. Les neurones n'étaient pas vraiment affectés. Nos études ont révélé que l'ammonium généré par les cellules cérébrales pourrait jouer un rôle dans la neuropathogenèse de ces deux maladies. Par conséquent, développer des stratégies neuroprotectrices ciblant la toxicité de l'ammonium dans le cerveau des patients atteints de GA-I ou MMA-urie pourrait être très important selon nos résultats.

No association between ApoE polymorphism and febrile seizures.

Seizures associated with fever are a common pediatric problem, affecting about 2-7 % of children between 3 months and 5 years of age. Differentiation of febrile seizures from acute symptomatic seizures secondary to central nervous system infections or seizures associated with fever in children with epilepsy is essential to provide appropriate treatment and follow-up care. Here, we tested the hypothesis that children who exhibit simple febrile seizures during early childhood, but do not develop epileptic seizures later in life, might preferentially carry the ApoE2 allele of the gene coding for the apolipoprotein E. We did not find any differences in the distribution of ApoE alleles or genotypes between individuals who exhibited simple febrile seizures (n = 93) and age-matched, typically developing subjects (n = 80). We found that the observed allele and genotype frequencies did not deviate from Hardy-Weinberg equilibrium, which suggests that the frequencies of ApoE alleles and genotypes are stable in the Swiss population from which our samples were derived. Across both groups of subjects (n = 173), we found an ApoE2 allele frequency of 0.064, an ApoE3 frequency of 0.829 and an ApoE4 frequency of 0.107. Our findings are consistent with previous reports of the distribution of ApoE polymorphism for European subjects free of any neurological disorders, and show that the different alleles of the gene coding for the apolipoprotein E are not associated with the occurrence of simple febrile seizures.

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.

Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and phenotypic heterogeneity, sometimes translating into delayed diagnosis and treatment. In particular, cases of intermediate severity often constitute a diagnostic challenge and represent good candidates for exome sequencing. Here, we describe the tortuous path to identification of the molecular defect in two siblings, in which osteopetrosis diagnosed in early childhood followed a milder course, allowing them to reach the adult age in relatively good conditions with no specific therapy. No clearly pathogenic mutation was identified either with standard amplification and resequencing protocols or with exome sequencing analysis. While evaluating the possible impact of a 3'UTR variant on the TCIRG1 expression, we found a novel single nucleotide change buried in the middle of intron 15 of the TCIRG1 gene, about 150 nucleotides away from the closest canonical splice site. By sequencing a number of independent cDNA clones covering exons 14 to 17, we demonstrated that this mutation reduced splicing efficiency but did not completely abrogate the production of the normal transcript. Prompted by this finding, we sequenced the same genomic region in 33 patients from our unresolved ARO cohort and found three additional novel single nucleotide changes in a similar location and with a predicted disruptive effect on splicing, further confirmed in one of them at the transcript level. Overall, we identified an intronic region in TCIRG1 that seems to be particularly prone to splicing mutations, allowing the production of a small amount of protein sufficient to reduce the severity of the phenotype usually associated with TCIRG1 defects. On this basis, we would recommend including TCIRG1 not only in the molecular work-up of severe infantile osteopetrosis but also in intermediate cases and carefully evaluating the possible effects of intronic changes. © 2015 American Society for Bone and Mineral Research.

Kasvatuskumppanuus somalinkielisten äitien kokemana : Moniku-hankkeen päiväkodeissa Helsingissä

Opinnäytetyömme liittyy MONIKU -Sosiaalinen vahvistaminen pääkaupunkiseudun monikulttuurisessa varhaiskasvatuksessa- hankkeeseen. Työmme käsittelee kasvatuskumppanuutta somalinkielisten äitien kokemana. Opinnäytetyö on kvalitatiivinen tutkimus. Keräsimme aineiston haastattelemalla kuutta somalinkielistä äitiä kolmesta Helsingin päiväkodista. Käytimme haastattelumenetelmänä yksilöhaastattelua. Kaikki haastattelut olivat puolistrukturoituja teemahaastatteluja, joiden teemat käsittelivät Davis Hiltonin kumppanuusmallia. Tuloksien mukaan somalinkieliset äidit olivat tyytyväisiä suomalaiseen päivähoitoon. Kumppanuusmal-liin liittyvät ominaisuudet, kuten avoin ja rehellinen vuorovaikutus sekä luottamus, olivat sujuvan yhteistyön perusedellytyksiä. Äidit pitivät tärkeänä, että heidän kulttuuria ja uskontoa kunnioitetaan ottamalla heidän toiveensa huomioon lapsen kasvatukseen liittyvissä asioissa. Monikulttuurisessa päivähoidossa kieliongelmat luovat haasteita kommunikaatiolle ja tätä kautta myös kumppanuussuh-teelle. Päiväkodin työntekijöiden ja äitien välinen kumppanuussuhde toteutui kuitenkin hyvin ottaen huomioon yhteisen kielen puuttumisen. Äidit kokivat tulkin käytön tärkeäksi varsinkin päivähoidon aloitus- ja kasvatuskeskusteluissa. Tulosten perusteella äidit toivoivatkin enemmän tulkin avulla käytäviä keskusteluita. Äitien mukaan hyvän yhteistyön perusedellytykset ovat yhteisymmärrys ja kunnioitus. Yhteistyön laatua voidaan parantaa muun muassa lisäämällä tulkin käyttöä, somalinkielisiä työntekijöitä ja koulutusta. Lähes jokaisen haastateltavan päiväkodissa on somalinkielinen työntekijä, joka lisää luottamusta ja tukee maahanmuuttajataustaisen lapsen omaa kulttuuri-identiteettiä ja äidinkieltä. Myös henkilökunnan monikulttuuriseen koulutukseen tulisi kiinnittää huomiota aikaisempaa enemmän.