Major trauma critical pathway: preliminary results from the monitoring system in the regional network and in a hub center in Rome metropolitan area.

OBJECTIVE: The aim of this study is to collect the two years' data regarding the Integrated Trauma Management System (SIAT) by capturing the activity of its three Hubs in the Italian Lazio Region and test the performance of one of the Hubs' (Fondazione Policlinico Universitario A. Gemelli - IRCCS, FPG -IRCCS) Major Trauma Clinical Pathway's (MTCP) monitoring system, introducing the preliminary results through volume, process and outcome indicators. MATERIALS AND METHODS: A retrospective analysis on SIAT was conducted on years 2016 to 2018, by collecting outcome and timeliness indicators through the Lazio Informative System whereas the MTCP was monitored through set of indicators from the FPG - IRCCS Informative System belonging to randomly selected clinical records of the established period. RESULTS: Hubs managed 11.3% of the 998,240 patients admitted in SIAT. All patients eligible for MTCP were "Flagged", and 83% underwent a CT within 2 hours; intra-hospital mortality was 13% whereas readmission rates 16.9%. CONCLUSIONS: SIAT converges the most severe patients to its Hubs. The MTCP monitoring system was able to measure a total of 9 out of 13 indicators from the original panel. This research may serve as a departing point to conduct a pre-post analysis on the performance of the MTCP.

Intradural extramedullary granular cell tumour in a cat.

A 7-year-old domestic shorthair cat was evaluated for progressive paraparesis, inability to jump, a paralysed tail and inability to void the bladder. Neurologic examination was consistent with a L4-S3 localisation. Survey radiographs of the lumbar vertebral column revealed L4-L7 vertebral body remodelling. A pre-contrast T1-weighted hyperintense, diffusely enhancing intradural lesion extending from L4 to S1 vertebral bodies was detected by MRI. Large, mesenchymal, round-to-polygonal cells arranged in nests or sheets were found on histologic examination at post mortem. These cells were characterised by abundant intracytoplasmic PAS-positive, diastase-resistant granules and positive immunoexpression of vimentin, S-100, neuron-specific enolase and desmin. This is the first report of a spinal granular cell tumour in a cat.

MR Micro-Neurography and a Segmentation Protocol Applied to Diabetic Neuropathy.

The aim of this study was to assess with MRI morphometric ultrastructural changes in nerves affected by diabetic peripheral neuropathy (DPN). We used an MR micro-neurography imaging protocol and a semiautomated technique of tissue segmentation to visualize and measure the volume of internal nerve components, such as the epineurium and nerve fascicles. The tibial nerves of 16 patients affected by DPN and of 15 healthy volunteers were imaged. Nerves volume (NV), fascicles volume (FV), fascicles to nerve ratio (FNR), and nerves cross-sectional areas (CSA) were obtained. In patients with DPN the NV was increased and the FNR was decreased, as a result of an increase of the epineurium (FNR in diabetic neuropathy 0,665; in controls 0,699, p = 0,040). CSA was increased in subjects with DPN (12,84 mm2 versus 10,22 mm2, p = 0,003). The FV was increased in patients with moderate to severe DPN. We have demonstrated structural changes occurring in nerves affected by DPN, which otherwise are assessable only with an invasive biopsy. MR micro-neurography appears to be suitable for the study of microscopic changes in tibial nerves of diabetic patients.

Prevalence and Risk Factors for Presumptive Ascending/Descending Myelomalacia in Dogs after Thoracolumbar Intervertebral Disk Herniation.

BACKGROUND: Ascending/descending myelomalacia (ADMM) is a severe complication of thoracolumbar intervertebral disk herniation (TL-IVDH) in dogs. HYPOTHESIS/OBJECTIVES: To investigate the prevalence and risk factors for ADMM in nonambulatory dogs with surgically treated TL-IVDH. ANIMALS: Six-hundred and fifty-two client-owned dogs evaluated for TL-IVDH that underwent decompressive spinal surgery. METHODS: Retrospective medical record review from February 2007 through December 2015. RESULTS: Thirteen dogs developed ADMM, with an overall prevalence of 2.0%. The prevalence of ADMM was 0% in dogs with neurological signs graded 1 or 2 at admission or before magnetic resonance imaging (MRI) or surgical procedures, 0.6% in dogs with neurological signs graded 3, 2.7% in dogs with neurological signs graded 4, and 14.5% in dogs with neurological signs graded 5. Age (<5.8 years), neurological status (grade 5), site of disk herniation (L5-L6), duration of clinical signs before becoming nonambulatory (<24 hours), detection of intramedullary T2-weighted (T2W) hyperintensity, and a T2 length ratio >4.57 were significant risk factors in the univariate analysis for development of ADMM. CONCLUSIONS AND CLINICAL IMPORTANCE: The factors identified in this study may be useful for the prediction of ADMM. Multicenter studies with a higher number of dogs with ADMM are required to confirm these data.

Interest of workplace support for returning to work after a traumatic brain injury: a retrospective study.

OBJECTIVE: To analyse usefulness of the SPASE programme, a coordinated facility programme to assist traumatic brain injury (TBI) persons in returning to work and retaining their job in the ordinary work environment. DESIGN: A retrospective study including 100 subjects aged over 18 who had suffered traumatic brain injury (GOS 1 or 2). The criterion for return to work (RTW) success was the ability to return to the job he/she had before the accident or to a new professional activity. RESULTS: Factors associated with RTW success were at short-term (2-3 years): the presence of significant workplace support OR=15.1 [3.7-61.7], the presence of physical disabilities OR=0.32 [0.12-0.87] or serious traumatic brain injury OR=0.22 [0.07-0.66]. At medium-term (over 3 years) these factors were: significant workplace support OR=3.9 [1.3-11.3] and presence of mental illness OR=0.15 [0.03-0.7]. CONCLUSION: This study suggests that a case coordination vocational programme may facilitate the return and maintain to work of TBI persons. It reveals that the workplace support is a key factor for job retention in the medium-term.

Nonpenetrating deep sclerectomy with reticulated hyaluronic acid implant versus punch trabeculectomy: a prospective clinical trial.

PURPOSE: To compare the intraocular pressure (IOP)-lowering effect and complication rate of nonpenetrating deep sclerectomy (NPDS) with reticulated hyaluronic acid (SK-GEL) scleral implant versus traditional punch trabeculectomy (PT) in the management of primary open angle glaucoma (POAG). METHODS: Prospective, randomized comparative study including 93 patients with uncontrolled POAG. Group 1 (43 eyes) underwent NPDS with SK-GEL scleral implant; Group 2 (50 eyes) underwent PT. Mitomycin C (0.2 mg/mL) was applied intraoperatively in both techniques. Study follow-up evaluations were conducted at 36 and 48 months. Complete success indicated the achievement of the target IOP without antiglaucoma medications, while qualified success indicated the same goal with medications. These categories were assessed at two target IOP levels, <21 mmHg and <18 mmHg. RESULTS: At 36 months for complete and qualified success with a <21 and <18 mmHg target IOP, no significant differences were noted between the two groups. At 48 months postprocedure when a <21 mmHg IOP target was considered, the rate of eyes that achieved complete success was 51.1% in the NPDS group versus 72% in the PT group (p<0.05). As for the <18 mmHg IOP target, the rate of eyes that achieved complete success was 32.5% in the NPDS group versus 44% in the PT group (p<0.05). Complications occurred significantly more frequently after PT than after NPDS. CONCLUSIONS: The IOP-lowering effects of the two procedures were comparable at 36 months. At 48 months PT showed a significantly higher rate of complete success compared with NPDS. Complications were more frequent after PT than after NPDS.

Engraftment capacity of mesenchymal cells following hematopoietic stem cell transplantation in patients receiving reduced-intensity conditioning regimen.

The engraftment ability of mesenchymal cells was investigated in 26 patients receiving allogeneic transplantation from HLA-identical siblings with reduced-intensity conditioning (RIC). The stem cell source was bone marrow (BM) in eight patients and G-CSF-mobilized peripheral blood hematopoietic cells in 18 cases. A total of 32 patients engrafted very quickly and the chimerism evaluation (both on myeloid and on lymphoid subsets) showed that they were full donor by day 60. At the time of the study they were in complete hematological remission and displayed a full donor hematopoiesis. Two patients showed early disease progression while one did not engraft. Forty-eight out-marrow samples harvested from the 26 patients generated a marrow stromal layer adequate for the chimerism evaluation. Monocyte-macrophage contamination of marrow stromal layers was always reduced below 2% by repeated trypsinizations and treatment with the leucyl-leucine (leu-leu) methyl ester. The chimerism evaluation was performed by PCR analysis of STRs microsatellites and the amelogenin locus, by using capillary electrophoresis (CE) and by FISH analysis in case of the sex mismatch. In eight patients, a partial donor origin of stromal cells was shown (7-86% cells of donor). The source of hematopoietic cells was BM in three patients and mobilized peripheral blood in the other five.

Relationships between nitrogen dioxide personal exposure and ambient air monitoring measurements among children in three French metropolitan areas: VESTA study.

In epidemiological studies, investigators have routinely used ambient air concentrations, measured by air-quality monitoring networks, to assess exposure of subjects. When there is great spatial variability of ambient air concentrations or when there are specific indoor exposures, this approach may yield substantial exposure misclassification and distort the associations between exposure and the health endpoints of interest. In 3 French metropolitan areas, the cross-sectional relationships between 48 hr of nitrogen dioxide personal exposure of 73 children and the corresponding 48-hr background ambient air concentrations were analyzed. The crude correlation between ambient air concentrations and personal exposures was poor in all cities (r2 = .009 for Grenoble, r2 = .04 for Toulouse, and r2 = .02 for Paris). These correlations were improved when the authors took into account other ambient air or indoor air sources of nitrogen dioxide emissions (the corresponding multiple linear regression, r2, increased to .43 in Grenoble, .50 in Toulouse, and .37 in Paris). The main variables that explained personal exposures were an index of traffic intensity and proximity and use of a gas cooker at home. The results of this study confirm that ambient air-monitoring site measurements are poor predictors of personal exposure. Investigators should carefully characterize the proximity of roads occupied by dense traffic to the home/school as well as indoor sources of nitric oxide emissions; both of these careful characterizations will assist researchers in the prediction of personal exposure in epidemiological studies.

Investigating regional differences in short-term effects of air pollution on daily mortality in the APHEA project: a sensitivity analysis for controlling long-term trends and seasonality.

Short-term effects of air pollution on daily mortality in eight western and five central-eastern European countries have been reported previously, as part of the APHEA project. One intriguing finding was that the effects were lower in central-eastern European cities. The analysis used sinusoidal terms for seasonal control and polynomial terms for meteorologic variables, but this is a more rigid approach than the currently accepted method, which uses generalized additive models (GAM). We therefore reanalyzed the original data to examine the sensitivity of the results to the statistical model. The data were identical to those used in the earlier analyses. The outcome was the daily total number of deaths, and the pollutants analyzed were black smoke (BS) and sulfur dioxide (SO(2)). The analyses were restricted to days with pollutant concentration < 200 microg/m(3) and < 150 microg/m(3) alternately. We used Poisson regression in a GAM model, and combined individual city regression coefficients using fixed and random-effect models. An increase in BS by 50 microg/m(3) was associated with a 2.2% and 3.1% increase in mortality when analysis was restricted to days < 200 microg/m(3) and < 150 microg/m(3), respectively. The corresponding figures were 5.0% and 5.6% for a similar increase in SO(2). These estimates are larger than the ones published previously: by 69% for BS and 55% for SO(2). The increase occurred only in central-eastern European cities. The ratio of western to central-eastern cities for estimates was reduced to 1.3 for BS (previously 4.8) and 2.6 for SO(2) (previously 4.4). We conclude that part of the heterogeneity in the estimates of air pollution effects between western and central-eastern cities reported in previous publications was caused by the statistical approach used and the inclusion of days with pollutant levels above 150 microg/m(3). However, these results must be investigated further.

Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia: confirmation of the ROCA-Wiedemann syndrome.

We report on a girl with growth and mental retardation, peculiar face with ptosis, epicanthus, broad nasal bridge, low-set and abnormal ears, cleft uvula, congenital heart defect, and anal atresia. A similar condition was reported previously by Wiedemann et al. [1982: An atlas of characteristic syndromes: a visual aid to diagnosis, 2nd ed. p 114-115]. We confirm the existence of this condition that, although similar to Ohdo syndrome, seems to be an independent clinical entity. We propose that, based on the principal clinical manifestations, this condition should be identified with the acronym ROCA (retardation of growth and development, ocular ptosis, cardiac defect, and anal atresia).

Health effects costs of particulate air pollution.

We conducted a cross-sectional study in December 1994 in three metropolitan areas of the Rhone-Alpes region in France (Lyon, Grenoble, and Chambéry; total number of inhabitants = 970,000) to assess the medical costs resulting from exposure to particulate air pollution. Probability samples of the general population (508 families, 1265 subjects) and of the physicians (395) and 13 hospital respiratory care and emergency units in the study area provided data on the prevalence of respiratory disorders and on medical care usage. Measurements from air-quality monitoring networks were used to ascribe a fraction of the respiratory morbidity to the ambient air particle concentrations present during the study period, on the basis of attributable risk estimates drawn from recent meta-analyses. The medical care usage and absenteeism related to respiratory disorders were converted into direct and indirect medical and social costs by use of a "cost of illness" approach. These costs were extrapolated to annual costs of disease attributable to particulate pollution in 1994, using daily values of air pollution. The average particulate concentrations during the study period were moderate (39, 41, and 10 micrograms/m3 in the three cities), yielding attributable fractions that ranged between 0.6% and 13.8% according to the health condition and to the city. Three hundred ninety-five subjects reported respiratory symptoms (prevalence, 31.2%) during the study period; 1182 patients visited a doctor and 158 used hospital services. The extrapolated annual estimates of the attributable cost of respiratory diseases for a population of 1 million range between 79 and 135 million French francs (FF) (20th and 80th percentiles of the cost distribution, after a Monte Carlo simulation, respectively; 50th percentile, 107 x 10(6) FF [16.3 x 10(6) Euros]). Over-the counter drug consumption represents the largest cost item (approximately 44% of total costs), followed by wage losses (38%). Hospital expenditures amount to a low percentage of total costs (about 5%) because most respiratory disorders do not require hospital care. Mortality was not considered in this study. Most of these costs occur at relatively low levels of air pollution (67% of the total annual costs are incurred during days with particle concentrations lower than 50 micrograms/m3). Such substantial figures are useful for assessing the social impacts of air pollution and for evaluating the cost efficiency of abatement policies.

Blood cholesterol and walnut consumption: a cross-sectional survey in France.

BACKGROUND: The preventive role of polyunsaturated fatty acids in cardiovascular disease has been recognized. We conducted a cross-sectional study to assess the association between walnut consumption (oil and kernel) as a source of polyunsaturated fatty acids and blood lipid levels. METHODS: Seven hundred ninety-three persons, males and females, ages 18-65 years, living in a walnut production area (Dauphiné, France) attended health screening visits organized by the Agriculture Social Security. Past diet (1-year recall, including walnut and animal fat consumption) and cardiovascular risk factors were ascertained using food frequency questionnaires. For each participant a blood sample was taken to measure HDL, LDL, and total cholesterol; apo A1; and apo B. RESULTS: A high level of HDL cholesterol and apo A1 was associated with a high amount of walnut consumption (oil and kernel) in the regular diet, with a positive trend with increasing degree of walnut consumption. This association did not appear to be confounded by dietary animal fat and alcohol as measured in this study. Other blood lipids did not show significant associations with walnut consumption. CONCLUSION: The positive effect of walnut consumption on blood HDL cholesterol and apo A1 is of special interest since these lipid parameters have been shown to be negatively correlated with cardiovascular morbidity.

Huge progression of diabetes prevalence and incidence among dialysed patients in mainland France and overseas French territories. A second national survey six years apart. (UREMIDIAB 2 study).

In 1989, we conducted a survey (UREMIDIAB) on the prevalence of diabetes among the population on Renal Replacement Therapy (RRT) in Mainland France (MF), the lowest of the developed countries (6.9%) with a North-South gradient (higher prevalence in the North). This highlighted a possible (genetical or nutritional) "new french paradox" in mainland France populations. In 1992 we conducted a similar study in the french (mainly non caucasian) overseas territories (OT) hosting 3.2% of the total french population, and observed a prevalence of diabetes in RRT of 22.9%. The frequency of diabetes mellitus as a cause of ESRD increasing worldwide, we conducted a second survey in year 1995, in MF and the OT. This study, UREMIDIAB 2, included all of the 244 french dialysis centers. A "Center file" allowed us to determine the prevalence and incidence of diabetes in the french RRT population, (response rate 73%). Then a "Patient medical file" (response rate 64.8% for MF and 91% for the OT) provided detailed informations: type of diabetes (type 1 or 2), etiology of nephropathy, status of diabetic complications, family's geographic origin of the patient. In MF the prevalence of diabetics in RRT doubled within 6 years: 13.04% vs 6.9%, the incidence reached 15.7%. In the OT the prevalence and the incidence reached 25.7% and 35.6%, respectively. Type 2 diabetes represented 87% and 93% of the RRT diabetics in MF and the OT, respectively. Diabetic nephropathy was considered as the cause of renal failure in 91.3% of type 1 and 57.5% of type 2 diabetics under dialysis. We found: 14.7% of myocardial infarction, 12.7% of cerebral strokes, 17.6% of amputations (extreme 37% in some OT centers) among this diabetic RRT population. A North-East (higher prevalence) South-West (lower) gradient was confirmed. We conclude that, while an unusual low prevalence (< or = 13%) of diabetics under dialysis persists in some parts of Mainland France, the total prevalence has been doubled within 6 years (1989/95) and that in Overseas Territories, hosting similar mixed blood populations than USA (afro-caribbeans, asians, indians, micronesians and metis), the high incidence of diabetes in RRT has reached the US levels during the same period.

Health risk assessment of a modern municipal waste incinerator.

During the modernization of the municipal waste incinerator (MWI, maximum capacity of 180,000 tons per year) of Metropolitan Grenoble (405,000 inhabitants), in France, a risk assessment was conducted, based on four tracer pollutants: two volatile organic compounds (benzene and 1, 1, 1 trichloroethane) and two heavy metals (nickel and cadmium, measured in particles). A Gaussian plume dispersion model, applied to maximum emissions measured at the MWI stacks, was used to estimate the distribution of these pollutants in the atmosphere throughout the metropolitan area. A random sample telephone survey (570 subjects) gathered data on time-activity patterns, according to demographic characteristics of the population. Life-long exposure was assessed as a time-weighted average of ambient air concentrations. Inhalation alone was considered because, in the Grenoble urban setting, other routes of exposure are not likely. A Monte Carlo simulation was used to describe probability distributions of exposures and risks. The median of the life-long personal exposures distribution to MWI benzene was 3.2 x 10(-5) micrograms/m3 (20th and 80th percentiles = 1.5 x 10(-5) and 6.5 x 10(-5) micrograms/m3), yielding a 2.6 x 10(-10) carcinogenic risk (1.2 x 10(-10)-5.4 x 10(-10)). For nickel, the corresponding life-time exposure and cancer risk were 1.8 x 10(-4) micrograms/m3 (0.9 x 10(-4)-3.6 x 10(-4) micrograms/m3) and 8.6 x 10(-8) (4.3 x 10(-8)-17.3 x 10(-8)); for cadmium they were respectively 8.3 x 10(-6) micrograms/m3 (4.0 x 10(-6)-17.6 x 10(-6)) and 1.5 x 10(-8) (7.2 x 10(-9)-3.1 x 10(-8)). Inhalation exposure to cadmium emitted by the MWI represented less than 1% of the WHO Air Quality Guideline (5 ng/m3), while there was a margin of exposure of more than 10(9) between the NOAEL (150 ppm) and exposure estimates to trichloroethane. Neither dioxins nor mercury, a volatile metal, were measured. This could lessen the attributable life-long risks estimated. The minute (VOCs and cadmium) to moderate (nickel) exposure and risk estimates are in accord with other studies on modern MWIs meeting recent emission regulations, however.

Short-term effects of air pollution on hospital admissions of respiratory diseases in Europe: a quantitative summary of APHEA study results. Air Pollution and Health: a European Approach.

The Air Pollution and Health: a European Approach (APHEA) project is a coordinated study of the short-term effects of air pollution on mortality and hospital admissions. Five West European cities (i.e., London, Amsterdam, Rotterdam, Paris, Milano) contributed several years of hospital admissions data for all respiratory causes. In the current study, the authors describe the results obtained from the quantitative pooling (meta-analysis) of local analyses. The diagnostic group was defined by ICD 460-519. The age groups studied were 15-64 y (i.e., adults) and 65+ y (elderly). The air pollutants studied were sulfur dioxide; particles (i.e., Black Smoke or total suspended particles); ozone; and nitrogen dioxide. The pollutants were obtained from existing fixed-site monitors in a standardized manner. We used Poisson models and standardized confounder models to examine the associations between daily hospital admissions and air pollution. We conducted quantitative pooling by calculating the weighted means of local regression coefficients. We used a fixed-effects model when no heterogeneity could be detected; otherwise, we used a random-effects model. When possible, the authors investigated the factors correlated with heterogeneity. The most consistent and strong finding was a significant increase of daily admissions for respiratory diseases (adults and elderly) with elevated levels of ozone. This finding was stronger in the elderly, had a rather immediate effect (same or next day), and was homogeneous over cities. The elderly were affected more during the warm season. The Sulfur dioxide daily mean was available in all cities, and it was not associated consistently with an adverse effect. Effects were present in areas in which more than one station was used in the assessment of daily exposure. Some significant associations were observed, although no conclusion that related to an overall particle effect could be drawn. The effect of Black Smoke was significantly stronger with high nitrogen dioxide levels on the same day, but nitrogen dioxide itself was not associated with admissions. The ozone results were in good agreement with the results of similar U.S. studies. The coherence of the results of this study and other results gained under different conditions strengthens the argument for causality.

Short-term effects of ambient sulphur dioxide and particulate matter on mortality in 12 European cities: results from time series data from the APHEA project. Air Pollution and Health: a European Approach.

OBJECTIVES: To carry out a prospective combined quantitative analysis of the associations between all cause mortality and ambient particulate matter and sulphur dioxide. DESIGN: Analysis of time series data on daily number of deaths from all causes and concentrations of sulphur dioxide and particulate matter (measured as black smoke or particles smaller than 10 microns in diameter (PM10)) and potential confounders. SETTING: 12 European cities in the APHEA project (Air Pollution and Health: a European Approach). MAIN OUTCOME MEASURE: Relative risk of death. RESULTS: In western European cities it was found that an increase of 50 micrograms/m3 in sulphur dioxide or black smoke was associated with a 3% (95% confidence interval 2% to 4%) increase in daily mortality and the corresponding figure for PM10 was 2% (1% to 3%). In central eastern European cities the increase in mortality associated with a 50 micrograms/m3 change in sulphur dioxide was 0.8% (-0.1% to 2.4%) and in black smoke 0.6% (0.1% to 1.1%). Cumulative effects of prolonged (two to four days) exposure to air pollutants resulted in estimates comparable with the one day effects. The effects of both pollutants were stronger during the summer and were mutually independent. CONCLUSIONS: The internal consistency of the results in western European cities with wide differences in climate and environmental conditions suggest that these associations may be causal. The long term health impact of these effects is uncertain, but today's relatively low levels of sulphur dioxide and particles still have detectable short term effects on health and further reductions in air pollution are advisable.

[Meta-analysis and dose-response functions of air pollution respiratory effects]. / Méta-analyse et fonctions dose-réponse des effets respiratoires de la pollution atmosphérique.

A Meta-analysis was conducted on 107 original epidemiological papers published between 1980 and 1993 on the respiratory health impact of suspended particles, sulfur dioxide, ozone and nitrogen dioxide. These are the usual air quality indicators that are monitored in urban ambient air. The range of exposures that were studied (averages and 90th percentiles are respectively up to 88, 83, 124 and 53 mu/m3 (averages) and 180, 147, 234 and 131 micrograms/m3 (90th percentile) for each of the four pollution indicators) allowed assessment of dose-response functions for irritative pulmonary conditions (cough and/or asthma episodes) and respiratory function (FEVI and peak expiratory flow). The dose-response functions seem linear in the range of observed concentrations, with nitrogen dioxide showing the least consistent association across different health indicators. When applied to exposures measured as a 100 micrograms/m3 increase of pollutant's concentrations compared to low background values, the average relative risks of airway irritation (cough and/or asthma épisodes) range, according to the pollutant, from 1.08 to 1.47; average relative decreases of respiratory function amount to 1.1 to 2.2%. The effects are most often stronger among young subjects. The results of this study, when applied to air pollution concentrations in the range of values that were observed in this study, should foster health risk assessment studies in places where population air pollution exposures are available.

Opitz C trigonocephaly syndrome and midline brain anomalies.

We describe a child with trigonocephaly, strabismus, upslanting palpebral fissures, nasal bridge hypoplasia, hypertrophic alveolar ridges and large gingivo-labial frenula, short neck, hip "dysplasia," equinovarus deformities, cryptorchidism, atrial septal defect ostium secundum, and severe mental retardation, findings consistent with C syndrome. The patient also had a Dandy-Walker malformation, complete callosal agenesis, and occipital meningocele. These structural defects are independent of the premature closure of the metopic suture, and confirm that midline brain anomalies are part of C syndrome. The hypothesis that the basic developmental defect in this syndrome primarily affects the midline field is supported by the concomitance of other anomalies, such as conotruncal heart defects, omphalocele, and genital anomalies.

Short term effects of air pollution on mortality in the city of Lyon, France, 1985-90.

OBJECTIVE: The short term association between daily mortality and ambient air pollution in the city of Lyon, France (population, 410,000) between 1985 and 1990 was assessed using time series analysis. DESIGN: This study followed the standardised design and statistical analysis (Poisson regression) that characterise the APHEA project. METHODS: Four categories of cause of death were studied: total (minus external causes), respiratory, cardiovascular, and digestive causes (as a control condition). RESULTS: No association was found with any cause of death for nitrogen dioxide (NO2) and ozone (O3), nor, for any pollutant, for digestive conditions. Sulphur dioxide (SO2) and, to a much lesser degree, suspended particles (PM13), were significantly related to mortality from respiratory and cardiovascular conditions. The relative risk (RR) of respiratory deaths associated with a 50 micrograms/m3 increment of mean daily SO2 over the whole period was 1.22 (95% CI 1.05, 1.40); the RR for cardiovascular deaths was 1.54 (1.22, 1.96). The corresponding RRs for PM13 were 1.04 (1.00, 1.09) for respiratory mortality and 1.04 (0.99, 1.10) for cardiovascular deaths. CONCLUSIONS: The effects of particulates were slightly increased during the cold season. When particulates concentrations were greater than 60 micrograms/m3, the joint SO2 effect was increased, suggesting some interaction between the two pollution indicators. These results agree with other studies showing an association between particulate pollution and daily mortality; however, they also suggest the noxious effect of SO2.

Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss.

We describe a child with whistling face and multiple contractures, including ulnar deviation of fingers, compatible with a diagnosis of Freeman-Sheldon syndrome (FSS). This patient also presented severe hypertonicity, multiple episodes of pneumonia, difficulty in swallowing, and poor weight gain, which are characteristic of the most severe cases of FSS. A brain CT scan showed cerebellar and brainstem atrophy. Auditory brainstem responses were absent. The child died at 5 months of respiratory failure. This case suggests the possibility that, especially in the most severe forms, brain abnormalities may be responsible for some of the clinical manifestations of this syndrome, i.e., respiratory problems, difficulty in swallowing and severe hypertonicity. We assume that there is more than one pathogenetic mechanism (muscular, skeletal, and neurological) underlying FSS, which, together with the genetic heterogeneity and the wide range of clinical symptoms leads us to suggest that it is more appropriate to speak of a Freeman-Sheldon spectrum rather than syndrome and that thorough investigation for CNS and auditory abnormalities should be part of the initial work-up of these patients.