Debating big data: A literature review on realizing value from big data

This is the final version. Available on open access from Elsevier via the DOI in this recordBig data has been considered to be a breakthrough technological development over recent years. Notwithstanding, we have as yet limited understanding of how organizations translate its potential into actual social and economic value. We conduct an in-depth systematic review of IS literature on the topic and identify six debates central to how organizations realize value from big data, at different levels of analysis. Based on this review, we identify two socio-technical features of big data that influence value realization: portability and interconnectivity. We argue that, in practice, organizations need to continuously realign work practices, organizational models, and stakeholder interests in order to reap the benefits from big data. We synthesize the findings by means of an integrated model

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

<p>Purpose: Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these patients.</p><p>Methods: We performed mutation analysis of the second exon of FLNA in the two surviving affected males of the presumed X-linked family and in the isolated patient.</p><p>Results: We identified a novel 2-base-pair deletion in the second exon of FLNA in all these male patients. The deletion is located between two nearby methionines at the N-terminus of filamin A. Previous studies showed that translation of FLNA occurs from both methionines, resulting in two isoforms of the protein. We hypothesized that the longer isoform is no longer translated due to the mutation and that this mutation is therefore not lethal for males in utero.</p><p>Conclusion: Our findings emphasize that congenital short bowel syndrome can be the presenting symptom in male patients with mutations in FLNA. Genet Med 2013:15(4):310-313</p>

Crescimento de prematuros de extremo baixo peso nos primeiros dois anos de vida Growth of extremely low birth weight infants during the first two years of life

OBJETIVO: Analisar o padrão de crescimento de prematuros de extremo baixo peso (EBP) até 24 meses de idade corrigida, a influência da displasia broncopulmonar (DBP) e os fatores de risco para falha de crescimento. MÉTODOS: Coorte de prematuros <1.000g de gestação única, nascidos e acompanhados em um centro terciário. O crescimento foi avaliado por meio de escores-z para peso, comprimento e perímetro cefálico ao nascimento, com 40 semanas, aos 3, 6, 12, 18 e 24 meses de idade corrigida. Dentre 81 sobreviventes, 70 foram estudados e estratificados em dois grupos: DBP (n=41) e sem DBP (n=29). Foi realizada análise bivariada com teste t ou Mann-Whitney, qui-quadrado ou Exato de Fisher, e análise multivariada com regressão logística. RESULTADOS: Em ambos os grupos, o escore-z de peso diminuiu significantemente entre o nascimento e 40 semanas. Houve um pico de incremento nos escores-z de peso, comprimento e perímetro cefálico entre 40 semanas e três meses. No grupo sem DBP, os escores-z atingiram a faixa normal a partir dos seis meses e assim permaneceram até 24 meses de idade corrigida. Crianças com DBP tiveram menores escores-z de peso e perímetro cefálico no primeiro ano, mas equipararam-se às sem DBP no segundo ano de vida. A regressão logística mostrou que catch-down no escore-z de peso com 40 semanas foi fator de risco para falha de crescimento. CONCLUSÕES: Prematuros EBP apresentam catch-up precoce do crescimento nos primeiros dois anos. Crianças com DBP têm pior crescimento ponderal. A restrição do crescimento pós-natal prediz a falha de crescimento nos primeiros anos.<br>OBJECTIVE: To evaluate the growth pattern of extremely low birth weight infants(ELBW) from birth to 24 months of adjusted gestational age (AA), the influence of bronchopulmonary dysplasia (BPD) and risk factors associated to growth failure. METHODS: This cohort study included all singleton inborn infants with birthweight <1,000g, admitted in the follow-up clinic of a level III Perinatal Center. Weight, length and head circumference were measured at birth, 40 weeks, and 3, 6, 9, 12, 18, 24 months AA, and Z-scores were calculated. Out of the 82 survivors, 70 were studied and classified in two groups: BPD (n=41) and no-BPD (n=29). Statistical analysis included t-test or Mann-Withney, chi-square or Fisher Exact test, and multivariate logistic regression. RESULTS: In both groups, weight z-score decreased significantly between birth and 40 weeks AA. A peak incremental change in weight, length and head circumference z-scores occurred between 40 weeks and three months. Z-scores for the no-BPD group were close to the expected values by the age of six months and remained at these levels at 24 months AA. Children with BPD had lower z-scores for weight and head circumference in the first year of life, but no difference was found between BPD and no-BPD children in the second year of life. Regression analysis showed that catch-down in weight z-score at 40 weeks was a risk factor for failure to thrive. CONCLUSIONS: ELBW infants experienced early catch-up growth during the first two years of life. ELBW with BPD had poor weight gain. Post-natal growth restriction predicts failure to thrive in infancy