The syndromology of anorectal malformations revisited: from patterns of associated malformations to the recognition of syndromes

ackground: Although the frequency of associated malformation is high, the incidence of inheritable syndromes is widely underestimated in children with anorectal malformation (ARM). Data sources: OMIM database, patient records and charts of the Department of Pediatric Surgery, Johannes Gutenberg-University, Mainz, Germany. Methods: We analyzed all associations, sequences and syndromes listed in the OMIM database that can be accompanied by ARM. A large cohort of children born with ARM was then retrospectively investigated as to the type of ARM, presence of additional malformations and possible categorization as a syndrome, sequence or association. For this process a syndrome finder was developed and employed. This simplistic tool allows for a rapid first check of possible syndromes before a more complex analysis is started using the OMIM database and consulting specialists. Results: Among 317 children with ARM, associated malformations were present in 77.7% of 127 children with high ARM, in 68.7% of 32 with intermediate ARM, and in 25.3% of 158 with a low type ARM. Three or more organ systems were involved in 29.1% children with high type ARM and 25% with intermediate ARM and 8.2% with a low type ARM. An association of the vertebral anal tracheo-esophageal renal (VATER) and vertebral anal cardiac tracheo-esophageal renal limb (VACTERL) type was found in a total of 35 patients. Before analysis, 11 syndromes and 35 associations which were not clear previously in this patient cohort were described. In other 17 patients, 14 syndromes and 3 associations were identified. Conclusions: The high number of only retrospectively identified syndromes suggests that a routine search is necessary in every patient with ARM and additional malformations.

Success rate and efficiency of activator treatment

In a retrospective multicentre study, the success rate and efficiency of activator treatment were analysed. All patients from two University clinics (Giessen, Germany and Berne, Switzerland) that fulfilled the selection criteria (Class II division 1 malocclusion, activator treatment, no aplasia, no extraction of permanent teeth, no syndromes, no previous orthodontic treatment except transverse maxillary expansion, full available records) were included in the study. The subject material amounted to 222 patients with a mean age of 10.6 years. Patient records, lateral head films, and dental casts were evaluated. Treatment was classified as successful if the molar relationship improved by at least half to three-fourths cusp width depending on whether or not the leeway space was used during treatment. Group comparisons were carried out using Wilcoxon two-sample and Kruskal-Wallis tests. For discrete data, chi-square analysis was used and Fisher's exact test when the sample size was small. Stepwise logistic regression was also employed. The success rate was 64 per cent in Giessen and 66 per cent in Berne. The only factor that significantly (P < 0.001) influenced treatment success was the level of co-operation. In approximately 27 per cent of the patients at both centres, the post-treatment occlusion was an 'ideal' Class I. In an additional 38 per cent of the patients, marked improvements in occlusal relationships were found. In subjects with Class II division 1 malocclusions, in which orthodontic treatment is performed by means of activators, a marked improvement of the Class II dental arch relationships can be expected in approximately 65 per cent of subjects. Activator treatment is more efficient in the late than in the early mixed dentition.

Selective immunisation strategy to protect newborns at risk for transmission of hepatitis B: retrospective audit of vaccine uptake

BACKGROUND: 90% of newborns infected perinatally will develop chronic hepatitis B infection with the risk of liver cirrhosis or hepatocellular carcinoma. In Switzerland, screening of all pregnant women for hepatitis B virus (HBV) has been recommended since 1983. Neonates at risk for perinatally acquired HBV are passively and actively immunised immediately after birth as well as at 1 and 6 months of age. The objective of this study was to evaluate the proportion of newborns immunised in accordance with the proposed vaccination schedule. METHODS: Patient records of 3997 mothers who gave birth to a liveborn infant during a two-year period at Zürich University Hospital were screened by computer. 128 women were identified as HBsAg positive or anti-HBc alone positive. Of 133 infants born to these mothers, complete data were available for 94 (71%). RESULTS: Immunisation was started in 88 infants (94%), but only in 78 (83%) within the first 24 hours of life. 85 (90%) received the 2nd immunisation but only 72 (77%) within the given time limit. 80 (85%) of the infants received the 3rd immunisation but only 69 (73%) within the correct time limit. In summary, only 51 (54%) of the infants at risk for HBV infection were immunised correctly (immunoglobulin within 24 hours and active prophylaxis at 0, 1 and 6 months). CONCLUSIONS: The success of the immunisation strategy following maternal screening and selective immunisation of newborns at risk for HBV infection is limited for various reasons (lack of screening results at birth, problems with correct documentation and communication). To overcome these drawbacks, selective vaccination strategy should be improved and general vaccination strategy, including infants, should be reconsidered.

Early prognostic value of the medical emergency team calling criteria in patients admitted to intensive care from the emergency department

OBJECTIVES: To evaluate the early prognostic value of the medical emergency team (MET) calling criteria in patients admitted to intensive care from the emergency department. DESIGN: Retrospective cohort study. SETTING: Emergency department and department of intensive care medicine of a 960-bed tertiary referral hospital. PATIENTS: A total of 452 consecutive adult patients admitted to intensive care from the emergency department from January 1, 2004, to December 31, 2004. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: MET calling criteria were retrospectively extracted from patient records, and the sum of positive criteria was calculated for the first hour in the emergency department (METinitial) and subsequently until admission to the intensive care unit in a series of time periods. The maximum number of positive MET calling criteria during any time period was defined (METmax). Logistic regression analysis revealed METinitial (odds ratio [OR] 3.392, 95% confidence interval [CI] 2.534-4.540) and METmax (OR 3.867, 95% CI 2.816-5.312) to be significant predictors of hospital mortality, the need for mechanical ventilation (METinitial: OR 4.151, 95% CI 3.53-4.652; METmax: OR 4.292, 95% CI 3.151-5.846), and occurrence of hemodynamic instability (METinitial: OR 1.548, 95% CI 1.258-1.905; METmax: OR 1.685, 95% CI 1.355-2.094) (all p < .0001). CONCLUSIONS: MET scores collected early after admission or throughout the stay in the emergency department allow for simple identification of patients at risk of unfavorable outcome during the subsequent intensive care unit stay.

Alveolar echinococcosis: from a deadly disease to a well-controlled infection. Relative survival and economic analysis in Switzerland over the last 35 years

BACKGROUND/AIMS: Alveolar echinococcosis (AE) is a serious liver disease. The aim of this study was to explore the long-term prognosis of AE patients, the burden of this disease in Switzerland and the cost-effectiveness of treatment. METHODS: Relative survival analysis was undertaken using a national database with 329 patient records. 155 representative cases had sufficient details regarding treatment costs and patient outcome to estimate the financial implications and treatment costs of AE. RESULTS: For an average 54-year-old patient diagnosed with AE in 1970 the life expectancy was estimated to be reduced by 18.2 and 21.3 years for men and women, respectively. By 2005 this was reduced to approximately 3.5 and 2.6 years, respectively. Patients undergoing radical surgery had a better outcome, whereas the older patients had a poorer prognosis than the younger patients. Costs amount to approximately Euro108,762 per patient. Assuming the improved life expectancy of AE patients is due to modern treatment the cost per disability-adjusted life years (DALY) saved is approximately Euro6,032. CONCLUSIONS: Current treatments have substantially improved the prognosis of AE patients compared to the 1970s. The cost per DALY saved is low compared to the average national annual income. Hence, AE treatment is highly cost-effective in Switzerland.

Life expectancies of South African adults starting antiretroviral treatment: collaborative analysis of cohort studies

BACKGROUND Few estimates exist of the life expectancy of HIV-positive adults receiving antiretroviral treatment (ART) in low- and middle-income countries. We aimed to estimate the life expectancy of patients starting ART in South Africa and compare it with that of HIV-negative adults. METHODS AND FINDINGS Data were collected from six South African ART cohorts. Analysis was restricted to 37,740 HIV-positive adults starting ART for the first time. Estimates of mortality were obtained by linking patient records to the national population register. Relative survival models were used to estimate the excess mortality attributable to HIV by age, for different baseline CD4 categories and different durations. Non-HIV mortality was estimated using a South African demographic model. The average life expectancy of men starting ART varied between 27.6 y (95% CI: 25.2-30.2) at age 20 y and 10.1 y (95% CI: 9.3-10.8) at age 60 y, while estimates for women at the same ages were substantially higher, at 36.8 y (95% CI: 34.0-39.7) and 14.4 y (95% CI: 13.3-15.3), respectively. The life expectancy of a 20-y-old woman was 43.1 y (95% CI: 40.1-46.0) if her baseline CD4 count was ≥ 200 cells/µl, compared to 29.5 y (95% CI: 26.2-33.0) if her baseline CD4 count was <50 cells/µl. Life expectancies of patients with baseline CD4 counts ≥ 200 cells/µl were between 70% and 86% of those in HIV-negative adults of the same age and sex, and life expectancies were increased by 15%-20% in patients who had survived 2 y after starting ART. However, the analysis was limited by a lack of mortality data at longer durations. CONCLUSIONS South African HIV-positive adults can have a near-normal life expectancy, provided that they start ART before their CD4 count drops below 200 cells/µl. These findings demonstrate that the near-normal life expectancies of HIV-positive individuals receiving ART in high-income countries can apply to low- and middle-income countries as well. Please see later in the article for the Editors' Summary.

Controlled Software Evaluation Methodology: Case Simulation and Cognitive User Analysis

Software for use with patient records is challenging to design and difficult to evaluate because of the tremendous variability of patient circumstances. A method was devised by the authors to overcome a number of difficulties. The method evaluates and compares objectively various software products for use in emergency departments and compares software to conventional methods like dictation and templated chart forms. The technique utilizes oral case simulation and video recording for analysis. The methodology and experiences of executing a study using this case simulation are discussed in this presentation.

Sharp neck injuries in suicidal intention

Sharp neck injuries in suicidal intention often present as serious emergency situations with the need for an immediate diagnosis and treatment. We report our study of the clinical evolution of this emergency condition. This study investigates the cases of sharp neck injuries in suicidal intention treated at our institution between 2000 and 2010. Patient records were collected in a retrospectively reviewed and analyzed database. The current literature was compared to our findings. We found 36 cases (10 female and 26 male). The neck injuries were superficial and profound in 16 and 20 patients, respectively. Twenty-two patients were seen by the Head and Neck surgeon. A surgical neck exploration was necessary in 19 cases. Tracheal, laryngeal, pharyngeal and vascular injuries were found in one, five, three and three cases, respectively. The hospital stay ranged from 1 to 47 days. All the patients underwent emergency psychiatric assessment and were subsequently referred for psychiatric treatment. One patient died in the emergency room from an additional arterial injury to the wrist. Sharp neck injuries in suicidal intention treated with an interdisciplinary medical, surgical and psychiatric emergency assessment and treatment have low mortality and morbidity.

Assessing pediatric nasal carriage of S. aureus & MRSA

Staphylococcus aureus and methicillin-resistant Staphylococcus aureus (MRSA) has become an increasing problem in the community. Nasal carriage of these bacteria has been shown to be a predisposing factor for infection and environmental contamination. This serious public health concern prompted an investigation to assess the pediatric nasal carriage of these bacteria in an effort to better understand the populations at risk and prevention of infection.^ This prospective study surveys 30 children from the Northwest Assistance Ministries (NAM) pediatric clinic from October 2008 to the present. Two nasal swabs were taken in 2-4 week intervals to determine S. aureus carrier status. Microbiologic tests were conducted to isolate and identify S. aureus from nasal cultures. Children with 2 cultures positive for S. aureus were classified as persistent carriers, those with 1 positive and 1 negative culture were classified as intermittent carriers, and those with 2 negative cultures were classified as noncarriers. This information was related to patient records and statistical analyses (X 2 and t-tests) were performed.^ Distribution of S. aureus carriage related to patient demographics (age, sex, & race) was showed no significant differences between S. aureus positive and S. aureus negative patient populations (p = 0.8). Additionally, the distribution of carrier status related to demographics also showed no significant difference (p = 0.8). Finally, the distribution of carrier status related to relevant medical history (immunizations current, past infection, & antibiotic use at time of swabbing) showed no significant difference (p = 0.4).^ This study is a snapshot of an ongoing study to assess the pediatric nasal carriage of S. aureus and MRSA. The inability to draw any reliable conclusion from the distribution of data is likely a result of an inadequate samples size. This is one of few studies assessing pediatric nasal carriage of S. aureus and targeting an underrepresented, Hispanic population is especially unique. Continuing this study allows for a better understanding of the epidemiology of this bacterium which will hopefully lead to appropriate interventions thus preventing future S. aureus infections.^

Avaliação da capacidade funcional de pacientes vítimas de trauma um ano após alta hospitalar

Objetivos: Avaliar a capacidade funcional de pacientes vítimas de trauma um ano após alta hospitalar e verificar associação da capacidade funcional com fatores relacionados ao trauma e à internação hospitalar. Metodologia: Estudo de coorte prospectivo, com pacientes vítimas de trauma grave (Injury Severity Score - ISS >=16), internados entre Junho e Setembro de 2010 em unidade de terapia intensiva (UTI) cirúrgica especializada em paciente politraumatizado de um hospital público de grande porte na cidade de São Paulo, Brasil. Variáveis de interesse como idade, sexo, escore de Glasgow, Acute Physiology and Chronic Health Disease Classification System II (APACHE II), mecanismos de trauma, número de lesões, região corpórea afetada, número de cirurgias, duração da ventilação mecânica (VM) e tempo de internação hospitalar foram coletadas dos prontuários médicos. A capacidade funcional foi avaliada um ano após alta hospitalar utilizando as escalas Glasgow Outcome Scale (GOS) e Escala de Atividades Instrumentais de Vida Diária de Lawton (AIVDL). Os pacientes também foram questionados se haviam retornado ao trabalho ou estudo. Resultados: O seguimento um ano após trauma foi completo em 49 indivíduos, a maioria composta por jovens (36±11 anos), do sexo masculino (81,6%) e vítimas de acidentes de trânsito (71,5%). Cada indivíduo sofreu aproximadamente 4 lesões corporais, acarretando uma média no ISS de 31 ± 14,4. O traumatismo cranioencefálico foi o tipo de lesão mais comum (65,3%). De acordo com a GOS, a maioria dos pacientes apresentou disfunção moderada (43%) ou disfunção leve ou ausente (37%) um ano após o trauma. A escala AIVDL apresentou pontuação média de 12±4 com aproximadamente 60- 70% dos indivíduos capazes de realizar de forma independente a maioria das atividades avaliadas. Escore de Glasgow, APACHE II, duração da VM e tempo de internação hospitalar foram associadas com a capacidade funcional um ano após lesão. A regressão linear múltipla considerando todas as variáveis significativas revelou associação entre a pontuação da escala AIVDL e o tempo de internação hospitalar. Apenas 32,6% dos indivíduos retornaram ao trabalho ou estudo. Conclusões: A maioria dos pacientes vítimas de trauma grave foi capaz de realizar as atividades avaliadas com independência; apenas um terço deles retornou ao trabalho e/ou estudo um ano após alta hospitalar. O tempo de internação hospitalar foi revelado como preditor significativo para a recuperação da capacidade funcional um ano após lesão grave

Audit of selective and non-selective non-steroidal anti-inflammatory drug use in rural general practice

Aim: To identify the demographics and risk factors in a selected patient population prescribed non-selective and cyclo-oxygenase-2 (COX- 2) selective non-steroidal anti-inflammatory drugs (NSAIDs). Method: A structured clinical self-audit form was distributed in January to March 2001 to 155 interested general practitioners (GPs) in rural Queensland. Results: Seventy one GPs participated in the audit and contributed 1417 patient records - 790 patients had received nonselective NSAIDs and 627 had received COX-2 inhibitors (celecoxib or rofecoxib). Patients who received COX-2 inhibitors were significantly older, more likely to have clinically important concomitant illness, and more likely to be taking medication known to interact with NSAIDs. They were also twice as likely to have two or more risk factors for adverse effects. The most common reasons for switching from an NSAID to a COX-2 inhibitor were reported to be a previous side effect from an NSAID (primarily related to gastrointestinal effects) or the doctor's perception of the superior efficacy of COX-2 inhibitor therapy. Conclusions: This study has shown that COX-2 inhibitors were used in a distinctly different patient population compared to non-selective NSAIDs. There were significant variations in the demographics and number of risk factors - for example, cardiovascular and renal - between the two identified populations. These differences may be due to doctors selecting COX-2 inhibitors for patients at high risk of gastrointestinal complications. However, the prescribing pattern may also be partly due to misconceptions about the relative safety and efficacy of COX-2 inhibitor drugs.

Three horizontal muscle squint surgery for large angle infantile esotropia

Background: To report the long-term outcome of a series of 49 patients who underwent three horizontal muscle squint surgery for large angle infantile esotropia. Methods: The patient records were retrospectively reviewed of 49 (24 girls [49%], 25 boys) consecutive patients with infantile esotropia of angle greater than or equal to60 Delta, who had undergone three horizontal muscle surgery performed by one surgeon (author GG). Surgery consisted of bilateral medial rectus recession combined with graded unilateral lateral rectus resection. Surgeries were carried out over a 6-year period with a mean follow-up period of 32.9 months (3.7-71.8 months). Results: Using Kaplan-Meier life-table analysis, cumulative surgical success (orthotropia +/-10 Delta) was 93.9% at 1 week, 91.8% at 2 and 6 months, 87.7% at 12 and 18 months, 79.9% at 2 years, 77.1% at 3, 4 and 5 years, and 70.6% at 6 years. The mean preoperative deviation was 68.7 Delta. The mean age at surgery was 12.9 months. The failure rate was independent of preoperative deviation. Prevalence of residual esotropia (>10 Delta) varied from 2.0% at 1 week to 17.0% at 6 years. Similarly the prevalence of consecutive exotropia (>10 Delta) varied from 4.0% at 1 week to 12.4% at 6 years. Conclusion: Operating in a graded fashion on three horizontal muscles in children with large angle infantile esotropia has a high success rate, even over long-term follow up. Based on the study's results, amounts of surgery for a given angle of strabismus are proposed.

Using secondary knowledge to support decision tree classification of retrospective clinical data

Retrospective clinical data presents many challenges for data mining and machine learning. The transcription of patient records from paper charts and subsequent manipulation of data often results in high volumes of noise as well as a loss of other important information. In addition, such datasets often fail to represent expert medical knowledge and reasoning in any explicit manner. In this research we describe applying data mining methods to retrospective clinical data to build a prediction model for asthma exacerbation severity for pediatric patients in the emergency department. Difficulties in building such a model forced us to investigate alternative strategies for analyzing and processing retrospective data. This paper describes this process together with an approach to mining retrospective clinical data by incorporating formalized external expert knowledge (secondary knowledge sources) into the classification task. This knowledge is used to partition the data into a number of coherent sets, where each set is explicitly described in terms of the secondary knowledge source. Instances from each set are then classified in a manner appropriate for the characteristics of the particular set. We present our methodology and outline a set of experiential results that demonstrate some advantages and some limitations of our approach. © 2008 Springer-Verlag Berlin Heidelberg.

Physical and psychophysical analysis of progressive addition lens embodiments

The extent to which the surface parameters of Progressive Addition Lenses (PALs) affect successful patient tolerance was investigated. Several optico-physical evaluation techniques were employed, including a newly constructed surface reflection device which was shown to be of value for assessing semi-finished PAL blanks. Detailed physical analysis was undertaken using a computer-controlled focimeter and from these data, iso-cylindrical and mean spherical plots were produced for each PAL studied. Base curve power was shown to have little impact upon the distribution of PAL astigmatism. A power increase in reading addition primarily caused a lengthening and narrowing of the lens progression channel. Empirical measurements also indicated a marginal steepening of the progression power gradient with an increase in reading addition power. A sample of the PAL wearing population were studied using patient records and questionnaire analysis (90% were returned). This subjective analysis revealed the reading portion to be the most troublesome lens zone and showed that patients with high astigmatism (> 2.00D) adapt more readily to PALs than those with spherical or low cylindrical (2.00D) corrections. The psychophysical features of PALs were then investigated. Both grafting visual acuity (VA) and contrast sensitivity (CS) were shown to be reduced with an increase in eccentricity from the central umbilical line. Two sample populations (N= 20) of successful and unsuccessful PAL wearers were assessed for differences in their visual performance and their adaptation to optically induced distortion. The possibility of dispensing errors being the cause of poor patient tolerance amongst the unsuccessful wearer group was investigated and discounted. The contrast sensitivity of the successful group was significantly greater than that of the unsuccessful group. No differences in adaptation to or detection of curvature distortion were evinced between these presbyopic groups.

A tree-based decision model to support prediction of the severity of asthma exacerbations in children

This paper describes the development of a tree-based decision model to predict the severity of pediatric asthma exacerbations in the emergency department (ED) at 2 h following triage. The model was constructed from retrospective patient data abstracted from the ED charts. The original data was preprocessed to eliminate questionable patient records and to normalize values of age-dependent clinical attributes. The model uses attributes routinely collected in the ED and provides predictions even for incomplete observations. Its performance was verified on independent validating data (split-sample validation) where it demonstrated AUC (area under ROC curve) of 0.83, sensitivity of 84%, specificity of 71% and the Brier score of 0.18. The model is intended to supplement an asthma clinical practice guideline, however, it can be also used as a stand-alone decision tool.