What provides a better value for your time? the use of relative value units to compare posterior segmental instrumentation of vertebral segments

Relative value units (RVUs) are a compensation model based on the effort required to provide a procedure or service to a patient. Thus, procedures that are more complex and require greater technical skill and aftercare, such as multi-level spine surgery, should provide greater physician compensation. However, there is limited data comparing RVUs to operative time. Therefore, the purpose of this study was to compare mean: 1) operative times; 2) RVUs; and 3) RVU/minute between posterior segmental instrumentation of 3 to 6, 7 to 12, and ≥13 vertebral segments, and 4) perform annual cost difference analysis.

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Feasibility and Psychometric Properties of the Infant Toddler Quality of Life (ITQOL) Questionnaire in a Community-Based Sample of Healthy Infants in China

Abstract

Objective Evaluate the feasibility and psychometric properties of the Infant Toddler Quality of Life (ITQOL) questionnaire as a measure of health-related quality of life (HRQOL) in a sample of Chinese infants. Methods The linguistically validated Simplified Chinese version of the ITQOL was used in a multicenter, observational study of healthy, term infants (N = 427), age 6 weeks at enrollment, in China. At Days 1 and 48, parents/guardians completed the ITQOL, the Short Form Health Survey (SF-12v2) and the Infant Gastrointestinal Symptom Questionnaire (IGSQ). ITQOL feasibility, reliability, ceiling/floor effects, concurrent validity and discriminatory validity were evaluated. Results Feasibility of administering the ITQOL was supported by strong response rates (> 97%) with < 1% missing items for all scales except physical abilities. Reliability was acceptable (Cronbach's alpha > 0.70) for all scales except Day 1 General Health (0.67). Floor effects were minimal (< 2%), except Day 1 physical abilities (7%). Ceiling effects increased from Days 1 to 48 across all scales. Concurrent validity was demonstrated by correlations between ITQOL infant-focused scales and IGSQ score (r = −0.20 to − 0.34, p < 0.001) and between parent-focused scales and SF-12v2 mental health composite (MCS) scores (r = 0.29–0.46, p < 0.001). ITQOL scales discriminated between infant subgroups based on illness-related outcomes (sick visits, adverse events) and between parent subgroups based on SF-12v2 MCS scores. Conclusion The Simplified Chinese version of the ITQOL performed well in a community-based sample of Chinese infants, with evidence supporting the instrument's feasibility, reliability, and validity. These data support the ITQOL as a valuable tool to assess HRQOL in Chinese infants.

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Trends in Smoking and Smoking Cessation During Pregnancy from 1985 to 2014, Racial and Ethnic Disparity Observed from Multiple National Surveys

Abstract

Objective Current report assessed the trends in smoking prevalence and the percentage of smoking cessation during pregnancy among women from three major races/ethnicities. Methods Data were collected between 1999 and 2014 from the continuous National Health and Nutrition Examination Survey (NHANES). Smoking habits of women while pregnant with the child sampled by NHANES were assessed retrospectively. A total of 28,090 women who gave live birth between 1985 and 2014 were included. The prevalence ratios (PRs) of smoking and quitting smoking during pregnancy were calculated. The adjusted annual prevalence ratio (aaPR: the ratio associated with a 1-year increase in time) was estimated using logistic regression with the year of birth as a predictor. Results With child's race/ethnicity, gender, and mother's age controlled, the aaPR of smoking was 0.95 (95% confidence interval 0.92–0.97) for Hispanics, 0.96 (0.94–0.98) for whites, and 0.98 (0.94–1.00) for blacks. The aaPR of quitting smoking was 1.09 (1.02–1.16) for Hispanics, 1.01 (0.97–1.06) for whites, and 1.03 (0.95–1.12) for blacks. Compared with the counterparts aged 35 years or older, pregnant women younger than 20 years were more likely to smoke among whites [PR 1.56 (1.07–2.29)] but less likely among blacks [PR 0.37 (0.26–0.52)]. Conclusions for Practice Smoking prevalence has been declining continuously for all but at different rates among three major races/ethnicities. The risk profiles of smoking during pregnancy were race/ethnicity specific. Culturally appropriate programs should be developed to further reduce the maternal smoking during pregnancy.

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A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family

Abstract

Retinitis pigmentosa (RP) is the most frequent genetically and clinically heterogeneous inherited retinal degeneration. To date, more than 80 genes have been identified that cause autosomal dominant, autosomal recessive and X linked RP. However, locus and allelic heterogeneity of RP has not been fully captured yet. This heterogeneity and lack of an accurate genotype phenotype correlation makes molecular dissection of the disease more difficult. The present study was designed to characterize the underlying pathogenic variants of RP in Pakistan. For this purpose, a large consanguineous family with RP phenotype showing autosomal recessive mode of inheritance was selected after a complete ophthalmological examination. Next generation sequencing was used for the identification of molecular determinant followed by Sanger-sequencing for confirmation. After sequence analysis a novel homozygous missense mutation, (c.602 C > T) in exon 4 of the RDH5 gene (MIM: 601617) was identified. This mutation resulted in substitution of phenyl alanine for serine at amino acid 201 (p.Ser201Phe) of the RDH5 gene. The same mutation was not detected in the 200 ethnically-matched control samples by Sanger sequencing. The identified mutant allele segregated in homozygous fashion in all the affected individuals of pedigree. Identification of this mutation reveals the allelic heterogeneity of RDH5 in patients with RP phenotype. The findings of this study demonstrate the clinical significance of next generation sequencing to understand the molecular basis of diseases and would help to reveal new proteins and their function in visual cycle will pave the way for early diagnosis, genetic counseling and better therapeutic inventions.

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Whiteboard Use in Labor and Delivery: A Tool to Improve Patient Knowledge of the Name of the Delivery Provider and Satisfaction with Care

Abstract

Introduction The impact of whiteboard use in labor rooms has not previously been studied. This quality improvement study aimed to evaluate patient knowledge of their delivering physician's name and the change in patient satisfaction after the implementation of a whiteboard in labor rooms. Methods A multidisciplinary team designed a dry-erase whiteboard prompting care providers to record their names, roles and patient care information. A questionnaire was administered to patients before and after the whiteboard implementation. Patients who had a planned cesarean or vaginal birth within 1 h of admission were excluded. Categorical variables were compared using Chi square and Fisher's exact tests. A multivariable logistic regression was performed to control for confounders. Results 191 patients completed the questionnaires. Although patients were not randomized, the pre-and post-intervention groups were similar. Post-intervention, we found a significant increase in recalling the delivery resident's name [21/101 (20.8%) vs. 33/90 (36.7%), p = 0.016] and a non-significant increase in recalling the name of the attending and nurse [19/101 (18.8%) vs. 23/90 (25.6%), p = 0.296; 46/101 (45.5%) vs. 53/90 (58.9%), p = 0.082]. Post-intervention, patient satisfaction with care was significantly higher [83/101 (82.2%) vs. 83/89 (93.3%), p = 0.028]. Knowledge of the delivery resident's name was associated with higher patient satisfaction [115/137 (84%) vs. 51/53 (96%), p = 0.03] and attendance of the postpartum care visit [50.4% (69/137) vs. 64.8% (35/54), p = 0.049]. Discussion The use of a well-designed whiteboard increases laboring patients' knowledge of their delivery physician's name and may improve patient satisfaction with care on Labor and Delivery.

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Higher Birthweight and Maternal Pre-pregnancy BMI Persist with Obesity Association at Age 9 in High Risk Latino Children

Abstract

Childhood obesity is increasing especially in Latinos and early intervention is essential to prevent later obesity complications. Latino children (n = 201) recruited at two San Francisco hospitals were assessed at birth including infant anthropometrics and feeding practices and followed to age 9 with annual anthropometric assessments. We evaluated the relationship between perinatal risk factors and obesity at age 9 and chronic obesity (obesity at both 5 and 9 years). Higher birthweight [odds ratio (OR) 2.48, 95% confidence interval (CI) 1.06–5.81] and maternal pre-pregnancy body mass index (BMI) (OR 1.09, 95% CI 1.00–1.18) were associated with increased risk for obesity at 9 years. Higher maternal pre-pregnancy BMI (OR 1.10, 95% CI 1.01–1.20) was associated with chronic obesity. Additionally, prenatal depression symptoms were protective (OR 0.33, 95% CI 0.11–0.94) against chronic obesity. We found no association between maternal age and education, exclusive breastfeeding at 4–6 weeks, rapid infant weight gain, and obesity or chronic obesity. Perinatal risk factors for obesity including higher birthweight and maternal pre-pregnancy BMI persisted until age 9, whereas, other variables significant at age 5 in our cohort and other populations including exclusive breastfeeding and rapid infant weight gain were no longer associated with increased risk.

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SAAMP 2.0: an algorithm to predict genotype-phenotype correlation of lysosomal storage diseases

ABSTRACT

Lysosomal storage diseases (LSDs) are a group of genetic disorders, resulting from deficiencies of lysosomal enzyme. Genotype-phenotype correlation is essential for timely and proper treatment allocation. Recently, by integrating prediction outcomes of 7 bioinformatics tools, we developed a SAAMP algorithm to predict the impact of individual amino acid substitution. To optimize this approach, we evaluated the performance of these bioinformatics tools in a broad array of genes. PolyPhen and PROVEAN had the best performances, while SNP&GOs, PANTHER and I-Mutant had the worst performances. Therefore, SAAMP 2.0 was developed by excluding 3 tools with worst performance, yielding a sensitivity of 94% and a specificity of 90%. To generalize the guideline to proteins without known structures, we built the 3D model of iduronate-2-sulfatase by homology modeling. Further, we investigated the phenotype severity of known disease-causing mutations of the GLB1 gene, which lead to two LSDs (GM1 gangliosidosis; Morquio disease type B). Based on previous literature and structural analysis, we associated these mutations with disease subtypes and proposed a theory to explain the complicated genotype-phenotype correlation. Collectively, an updated guideline for phenotype prediction with SAAMP 2.0 was proposed, which will provide essential information for early diagnosis and proper treatment allocation, and may be generalized to many monogenic diseases.

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