An Australian Aboriginal birth cohort: a unique resource for a life course study of an Indigenous population. A study protocol

BACKGROUND: The global rise of Type 2 diabetes and its complications has drawn attention to the burden of non-communicable diseases on populations undergoing epidemiological transition. The life course approach of a birth cohort has the potential to increase our understanding of the development of these chronic diseases. In 1987 we sought to establish an Australian Indigenous birth cohort to be used as a resource for descriptive and analytical studies with particular attention on non-communicable diseases. The focus of this report is the methodology of recruiting and following-up an Aboriginal birth cohort of mobile subjects belonging to diverse cultural and language groups living in a large sparsely populated area in the Top End of the Northern Territory of Australia. METHODS: A prospective longitudinal study of Aboriginal singletons born at the Royal Darwin Hospital 1987–1990, with second wave cross-sectional follow-up examination of subjects 1998–2001 in over 70 different locations. A multiphase protocol was used to locate and collect data on 686 subjects with different approaches for urban and rural children. Manual chart audits, faxes to remote communities, death registries and a full time subject locator with past experience of Aboriginal communities were all used. DISCUSSION: The successful recruitment of 686 Indigenous subjects followed up 14 years later with vital status determined for 95% of subjects and examination of 86% shows an Indigenous birth cohort can be established in an environment with geographic, cultural and climatic challenges. The high rates of recruitment and follow up indicate there were effective strategies of follow-up in a supportive population

Nasal continuous positive airway pressure (nCPAP) for term neonates with respiratory distress

© 2015 The Cochrane Collaboration. This is the protocol for a review and there is no abstract. The objectives are as follows: To determine whether nCPAP as the primary modality of treatment is effective and safe for treating respiratory distress in the term neonate (≥ 37 weeks gestation). We will explore potential sources of clinical heterogeneity through the following a priori subgroup analysis: Age of infant at randomisation ( 12 hours to 24 hours) Setting (neonatal intensive care unit; non-tertiary special care nursery) Level of continuing distending pressure used (≤ 5 cm H20; ≥ 6 cm H20) Types of nCPAP (via continuous flow e.g. bubble nCPAP; variable flow nCPAP e.g. Infant Flow Driver) Delivery system (nasal cannulae (short); nasal cannulae (long); nasal mask) Method of oxygen delivery (ambient oxygen (crib, headbox); low-flow nasal cannulae; high-flow nasal cannulae) Method of birth (caesarean section; vaginal delivery) Reason for respiratory distress (e.g. hyaline membrane disease; transient tachypnoea of the newborn; bacterial pneumonia; meconium aspiration syndrome; persistent pulmonary hypertension). Sensitivity analysis

Destini incrociati. Migrazioni tra localit\ue0 e mobilit\ue0: spazi e rappresentazioni

Il volume riporta i risultati di tre progetti di ricerca interdisciplinare su migrazioni, educazione alla cittadinanza attiva in contesti informali ed eterogenei a rischio di marginalit\ue0 sociale. In appendice materiale di documentazione, linee di ricerca-azione e strumenti metodologici per operatori sociali, educatori, formatori e ricercatori

Migrazioni tra localit\ue0 e mobilit\ue0: spazi e rappresentazioni

Il volume propone analisi delle complessit\ue0 relative agli spazi di residenza e di relazione, in particolare in ambito urbano, con l'apporto di letture diverse, ma convergenti, connesse agli ambiti disciplinari coinvolti: geografia, antropologia e pedagogia. Angolature differenti per leggere la mobilit\ue0 odierna che produce processi di ricchezza interculturale, frutto dell'incrocio di una pluralit\ue0 di destini

Karyotype-Phenotype Correlation in Partial Trisomies of the Short Arm of Chromosome 6: A Family Case Report and Review of the Literature.

The first child (proband) of nonconsanguineous Caucasian parents underwent genetic investigation because she was affected with congenital choanal atresia, heart defects and kidney hyposplasia with mild transient renal insufficiency. The direct DNA sequencing after PCR of the CHD7 gene, which is thought to be responsible for approximately 60-70% of the cases of CHARGE syndrome/association, found no mutations. The cytogenetic analysis (standard GTG banding karyotype) revealed the presence of extrachromosomal material on 10q. The chromosome analysis was completed with array CGH (30 kb resolution), MLPA and FISH, which allowed the identification of three 6p regions (6p.25.3p23 × 3): 2 of these regions are normally located on chromosome 6, and the third region is translocated to the long arm of chromosome 10. The same chromosomal rearrangement was subsequently found in the father, who was affected with congenital ptosis and progressive hearing loss, and in the proband's sister, the second child, who presented at birth with choanal atresia and congenital heart defects. The mutated karyotypes, which were directly inherited, are thought to be responsible for a variable phenotype, including craniofacial dysmorphisms, choanal atresia, congenital ptosis, sensorineural hearing loss, heart defects, developmental delay, and renal dysfunction. Nevertheless, to achieve a complete audiological assessment of the father, he underwent further investigation that revealed an increased level of the coagulation factor XIII (300% increased activity), fluctuating levels of fibrin D-dimer degradation products (from 296 to 1,587 ng/ml) and a homoplasmic mitochondrial DNA mutation: T961G in the MTRNR1 (12S rRNA) gene. He was made a candidate for cochlear implantation. Preoperative high-resolution computed tomography and magnetic resonance imaging of the temporal bone revealed the presence of an Arnold-Chiari malformation type I. To the best of our knowledge, this study is the second report on partial 6p trisomy that involves the 10q terminal region. Furthermore, we report the first case of documented Arnold-Chiari malformation type I and increased factor XIII activity associated with 6p trisomy. We present a comprehensive report of the familial cases and an exhaustive literature review

Karyotype-phenotype correlation in partial trisomies of the short arm of chromosome 6: A family case report and review of the literature

The first child (proband) of nonconsanguineous Caucasian parents underwent genetic investigation because she was affected with congenital choanal atresia, heart defects and kidney hyposplasia with mild transient renal insufficiency. The direct DNA sequencing after PCR of the CHD7 gene, which is thought to be responsible for approximately 60-70% of the cases of CHARGE syndrome/association, found no mutations. The cytogenetic analysis (standard GTG banding karyotype) revealed the presence of extrachromosomal material on 10q. The chromosome analysis was completed with array CGH (30 kb resolution), MLPA and FISH, which allowed the identification of three 6p regions (6p.25.3p23 7 3): 2 of these regions are normally located on chromosome 6, and the third region is translocated to the long arm of chromosome 10. The same chromosomal rearrangement was subsequently found in the father, who was affected with congenital ptosis and progressive hearing loss, and in the proband's sister, the second child, who presented at birth with choanal atresia and congenital heart defects. The mutated karyotypes, which were directly inherited, are thought to be responsible for a variable phenotype, including craniofacial dysmorphisms, choanal atresia, congenital ptosis, sensorineural hearing loss, heart defects, developmental delay, and renal dysfunction. Nevertheless, to achieve a complete audiological assessment of the father, he underwent further investigation that revealed an increased level of the coagulation factor XIII (300% increased activity), fluctuating levels of fibrin D-dimer degradation products (from 296 to 1,587 ng/ml) and a homoplasmic mitochondrial DNA mutation: T961G in the MTRNR1 (12S rRNA) gene. He was made a candidate for cochlear implantation. Preoperative high-resolution computed tomography and magnetic resonance imaging of the temporal bone revealed the presence of an Arnold-Chiari malformation type I. To the best of our knowledge, this study is the second report on partial 6p trisomy that involves the 10q terminal region. Furthermore, we report the first case of documented Arnold-Chiari malformation type I and increased factor XIII activity associated with 6p trisomy. We present a comprehensive report of the familial cases and an exhaustive literature review

Active care of infants born between 22 and 26 weeks of gestation does not follow consensus expert recommendations

Aim: To determine the relationship between clinical practice and publication of an Australian consensus statement for management of extremely preterm infants in 2006. Methods: A population-based study using linked data from New South Wales, Australia for births between 22 + 0 and 26 + 6 weeks of gestation between 2000 and 2011. Results: There were 4746 births of whom 2870 were liveborn and 1876 were stillborn. Of the live births, 2041 (71%) were resuscitated, 1914 (67%) were admitted into a neonatal intensive care unit (NICU) and 1310 (46%) survived to hospital discharge. Thirty-nine (2%) stillbirths were resuscitated but none survived. No 22-week infant survived to hospital discharge. Fewer 23-week gestation infants were resuscitated between 2004 (52%) and 2005 (20%) but resuscitation rates increased by 2008 (44%). There was no difference at other gestations. Adjusted odds ratio (OR) for resuscitation was increased by birthweight (OR: 1.01), tertiary hospital birth (OR: 3.4) and Caesarean delivery (OR: 11.3) and decreased by rural residence (OR: 0.4) and male gender (OR: 0.7). Conclusion: Expert recommendations may be shaped by clinical practice rather than the converse, especially for 23-week gestation infants. Recommendations should be revised regularly to include clinical practice changes