Comparison of two coprological methods for the diagnosis of Eurytrema ssp. in cattle and sheep.

Eurytrematosis is a disease caused by flukes of the genus Eurytrema. These parasites infect the pancreatic ducts of a wide variety of species, including cattle, sheep and humans. Diagnosing eurytrematosis through the analysis of faecal samples can be difficult because most of the available techniques are considered of low sensitivity. In this context, a modification of the Dennis, Stone and Swanson technique (Belem Sedimentation Technique, BST) was previously developed to increase the probability of detecting infected animals; nevertheless, the values of eggs per gram obtained using the modified technique are generally low. We proposed a modification of the this technique (MBST), to increase the sensitivity and detection rate of infected animals. The objective of this work was to describe MBST and compare it with BST. Faecal samples of 212 clinically healthy animals (174 from cattle and 38 from sheep) from 20 farms were taken by the intra-rectal route and stored at 4°C. The samples were processed using BST and MBST. Positive samples amounted to 55 (25.9%) using BST and 121 (57.1%) using MBST. In the simples from cattle, 52 (29.8%) and 107 (61.4%) were positive in BST and MBST, respectively. In sheep, three (7.8%) and 14 (36.8%) positive samples were obtained in BST and MBST, respectively.The results obtained using the two methods were significantly different, indicating a lack of agreement between their findings. The results suggest that MBST is a more sensitive method to detect Eurytrema spp. eggs in faeces than BST.

Do internists know what limitation of therapeutic effort means? / ¿Saben los internistas qué es la limitación del esfuerzo terapéutico?

OBJECTIVES: To ascertain whether internists know what limitation of therapeutic effort (LTE) means and whether training in palliative care affects this understanding. METHODS: A survey was administered to Spanish internists on their knowledge of LTE and the training in palliative care. RESULTS: A total of 273 respondents completed the survey (mean age, 42±12 years), 80.2% of whom were associates. Some 23.8% of the respondents identified the complete definition of LTE. The most often chosen responses were «not starting an active treatment¼(85.0%) and «withdrawing an active treatment¼ (65.9%). Forty-three percent of the respondents lacked training in palliative care, 73.3% considered their level of understanding to be good or very good, 62.3% stated that they became anxious when addressing the planning for end-of-life care with the patient, and 81.3% stated that they had had some conflict with their LTE decisions. CONCLUSIONS: Only 1 of every 4 internists knew the proper definition for LTE, with no association with the level of training in palliative care.

Prediction of Gait without Physical Assistance after Inpatient Rehabilitation in Severe Subacute Stroke Subjects.

BACKGROUND: Gait recovery is one of the main therapeutic goals of the rehabilitation for patients after a stroke. OBJECTIVE: This study is aimed at describing the frequency of achievement of gait without physical assistance in poststroke subacute patients by the time of discharge from a rehabilitation hospitalized program. Secondarily, our goal is to identify gait without physical assistance predictors in this same population based on the admission's clinical and demographic conditions. METHODS: Data from 185 first unilateral hemispheric stroke patients that need physical assistance to walk at admission were analyzed. The sample was dichotomized into gait with physical assistance and gait without physical assistance to calculate the frequency of achievement of gait without assistance at discharge. Multivariate logistic modeling was applied to identify prognostic factors for regaining gait without physical assistance. RESULTS: Gait without assistance was achieved in 50.27% of the subjects. Five variables were identified for the prediction model: age (Odds ratio [OR] = .87, 95% confidence interval [CI] = .83-.92), gender (OR = .37, 95% CI = .14-.94), time between stroke and hospitalization (OR = .96, 95% CI = .94-.99), initial Berg Balance (OR = 1.52, 95% CI = 1.23-1.88), and initial lower limb Fugl Meyer (OR = 1.17, 95% CI = 1.07-1.27). CONCLUSIONS: Although discharge planning is complex, achievement of gait without physical assistance is undoubtedly a landmark to decide on hospitalization discharge. Half of this sample was able to walk without physical assistance at hospitalization discharge. Five clinical and demographic conditions at admission were found predictors of gait without physical assistance at inpatient discharge.

Non-syndromic craniosynostosis in children: Scoping review.

BACKGROUND: Craniosynostosis (CS) is a complex condition consisting of the early fusion of one or more cranial sutures in the intrauterine stage. The affected infant exhibits abnormal head shape at time of birth or shortly thereafter. It can be observed in normal individuals (non-syndromic CS or NSCS) or as a part of a multisystem syndrome. The purposes of the present article were to carry out a scoping review on Non-Syndromic CS and to discuss the most important findings retrieved. MATERIAL AND METHODS: The steps of this scoping review were as follows: first, to pose a research question; second, to identify relevant studies to answer the research question; third, to select and retrieve the studies; fourth, to chart the critical data, and finally, to collate, summarize, and report the results from the most important articles. Relevant articles published over a 20-year period were identified and retrieved from five Internet databases: PubMed; EMBASE; Cochrane Library; Google Scholar, and EBSCO. RESULTS: Fourteen articles were finally included in the present scoping review. The following four most important clinical issues are discussed: (i) normal cranial development, clinical manifestations, and pathogenesis of NCSC; (ii) clinical evaluation of NCSC; (iii) treatment and post-surgical follow-up; and (iv) additional considerations. CONCLUSIONS: NSCS may be present with associated head shapes. Multiple early surgical reconstructive options are currently available for the disorder. Pediatric Dentistry practitioners must be familiarized with this condition and form part of a multi-approach health team as those responsible for the opportune oral health care of the affected child.

Ecology of the free-living stages of cattle nematodes in the dry season in the Lerma Valley, Salta province, Argentina.

The objective of this work was to describe the dynamics of development and survival of the free-living stages of cattle gastrointestinal nematodes (GIN) in fecal matter (FM) and pasture during the dry season in the Lerma Valley, Salta province, northwestern Argentina (NWA) to contribute to GIN management. The climate in the region is characterized by a rainy summer followed by a dry season from middle autumn to early spring. Fecal matter from calves naturally infected with GIN was deposited on three experimental field plots in April, July and October 2019, corresponding to the beginning, middle and end of the dry season, respectively. Each experimental unit consisted of 7 stools of about 800 g and had four repetitions. To determine the development from egg to infective larvae (L3), the first sampling (5 g fecal matter) was performed from the 10th day post-contamination and continued every 3 days until L3 were found. Subsequently, a monthly sampling was made until two consecutive negative results were obtained. Sampling of pasture began three days after the L3 recovery from FM, and continued monthly until two negative results were obtained. The following parameters were evaluated: development time and development rate from egg to L3; permanence time of L3 in feces; time of appearance on pasture; migration rate; and permanence time of L3 on pasture. The main genera of parasites present were Cooperia and Haemonchus. Significant differences were observed in the development time among contamination months (p < 0.001); development time was highest in the July contamination (28 days), with October and April contamination averaging 9 and 10 days, respectively. Development time also showed significant differences (p < 0.01) among contamination months, being highest in October (31.48%). The highest permanence time in fecal matter values were recorded in the July contamination (183 days) and migration rate was highest in the October contamination (42.49%). The highest time of appearance on pasture value was recorded in the July contamination (117 days). Finally, the highest permanence time of L3 in feces values were detected in the October contamination (148 days). The results of this work show that fecal contamination in the NWA region in the dry season would play an epidemiological role in the GIN cycle as a source of infection for the next productive cycle in the rainy season.

The natural history of Parkinson's disease in the province of Segovia: mortality in a longitudinal study (20-year follow-up).

OBJECTIVE: We determined mortality rates and predictors of survival in 273 patients with Parkinson's disease based on a 20-year follow-up longitudinal study. MATERIAL AND METHODS: We examined 273 patients with Parkinson's disease during a 20-year follow-up, recruited between 1978 and 1998. All patients were regularly followed at the Department of Neurology until December 31, 1998, or death. RESULTS: By then, 69 patients had died, crude mortality was rate 4.43, and standardized mortality ratio for the total patient group was 1.39 (95% CI, 1.10-1.50). As Parkinson's disease is a chronic progressive disorder in adult life, disease-related mortality would be expected to increase in later stages after 15 or 20 years. Mean age at death in our cohort was 78.27 (95% CI, 76.90-79.20). Median time of death was 11 years (95% CI, 9.50-12.49). Independent predictors of mortality during the follow-up were age at onset (hazard ratio, 1.05; 95% CI, 1.01-1.09; P = 0.01), clinical form - akinesia and rigidity (hazard ratio, 2.20; 95% CI, 1.06-4.88; P = 0.03) - and treatment with dopaminergic agonist (hazard ratio, 0.49; 95% CI, 0.23-1.03; P = 0.06). Cardiovascular disease was the most frequent cause of death in 42%. CONCLUSIONS: This study suggests a link between mortality with age of onset and treatment without dopamine agonists as initial treatment. So, there is an association between decreased mortality and tremor as initial clinical forms at onset.

Fatigue level in spinal cord injury AIS D community ambulatory subjects.

STUDY DESIGN: Cross-sectional study. OBJECTIVES: The objective of our study was to determine the level of fatigue in ASIA impairment scale (AIS) D spinal cord injury (SCI) in community ambulatory subjects and correlate fatigue with other clinical symptoms. SETTING: Outpatient Rehabilitation Unit, FLENI Institute, Escobar. Buenos Aires, Argentina. METHODS: We included twenty-six patients with AIS D SCI that attended therapies at FLENI Institute between 2002 and 2009. We measured the demographic and clinical characteristics of the subjects. All patients were administered the fatigue severity scale (FSS). A cut-score for over four was indicative of significant fatigue. We used the Spearman's coefficient correlation to analyze associations among the FSS with pain (Visual analog scale), depression (Beck depression inventory), and physical activity (hours per week). RESULTS: The median score of the FSS scale was 2.82 (1-5). Fatigue was found in 5 individuals (19.2%). There was a significant correlation between FSS scale and the Beck questionnaire. No association was found between FSS and pain or physical activity. CONCLUSION: The findings of this study suggest that fatigue is a relevant problem for people with SCI AIS D, and is a disabling symptom when present. There is a significant relationship between fatigue and depression. SPONSORSHIP: FLENI Rehabilitation Institute.

Latex allergy in primary care providers.

BACKGROUND: Health care workers represent one of the major risk groups for developing latex allergy. Most studies have examined hospital workers. The aims of this study were to analyze the prevalence of latex allergy in primary care providers and to describe the characteristics of health care workers who are allergic to latex. MATERIAL AND METHODS: A self-administered questionnaire on work activity, history of symptoms, and allergic reactions to latex products was completed by a sample of primary care workers. Skin prick tests were performed with a commercial latex extract, and serum specific immunoglobulin (Ig) E to latex and its main allergens was determined. RESULTS: Of the 620 workers contacted, 341 completed the questionnaire and 170 were tested with latex allergens. The prevalence of latex allergy was 5.9% (95% confidence interval 2.4%-9.4%). Most allergic workers with a previous diagnosis of latex allergy showed negative or lowered specific IgE levels and a reduced wheal size to latex in comparison with the previous tests. We found 3 cases with elevated latex-specific IgE due to cross-reactivity with pollen profilin, although the results were not clinically relevant. Allergy to latex was associated with the number of surgical interventions and with allergy to kiwi, banana, chestnuts, and avocado. CONCLUSIONS: The prevalence of latex allergy in this study was 5.9%. The importance of a firm diagnosis at the onset of symptoms should be stressed, since reducing contact with latex can yield negative test results. Assessment of IgE reactivity to the individual latex allergens (component-resolved diagnosis) can detect sensitization to panallergens such as profilin and help to clarify the diagnosis.

Do internists know what limitation of therapeutic effort means?

OBJECTIVES: To ascertain whether internists know what limitation of therapeutic effort (LTE) means and whether training in palliative care affects this understanding. METHODS: A survey was administered to Spanish internists on their knowledge of LTE and training in palliative care. RESULTS: A total of 273 respondents completed the survey (mean age, 42±12 years), 80.2% of whom were associates. Some 23.8% of the respondents identified the complete definition of LTE. The most frequently selected responses were "not starting an active treatment" (85.0%) and "withdrawing an active treatment" (65.9%). Forty-three percent of the respondents lacked training in palliative care, 73.3% considered their level of understanding to be good or very good, 62.3% stated that they became anxious when addressing planning for end-of-life care with a patient, and 81.3% stated that they had experienced some conflict with their LTE decisions. CONCLUSIONS: Only 1 of every 4 internists knew the proper definition of LTE, with no association with the level of training in palliative care.

Pseudomonas aeruginosa and lung function decline in patients with bronchiectasis.

OBJECTIVES: The objective of this study was to analyse lung function decline over time in bronchiectasis, along with the factors associated with it. METHODS: Spirometry was measured every year in this observational, prospective study in 849 patients from the Spanish Bronchiectasis Registry (RIBRON). The main outcome was the decline in the rate of forced expiratory volume during the first second (FEV1). To be included in this study, patients needed a baseline assessment and at least one subsequent assessment. FEV1 decline was analysed using a mixed-effects linear regression model adjusted for clinically significant variables. RESULTS: We recruited 849 bronchiectasis patients with at least two annual lung function measurements (follow-up range 1-4 years). A total of 2262 lung function tests were performed (mean 2.66 per patient, range 2-5). Mean baseline FEV1 was 1.78 L (standard deviation (SD) 0.76; 71.3% predicted). Mean age was 69.1 (SD 15.4) years; 543 (64% women. The adjusted rates of FEV1 decline were -0.98% predicted/year (95% confidence interval (CI) -2.41 to -0.69) and -31.6 (95% CI -44.4 to -18.8) mL. The annual FEV1 decline was faster in those patients with chronic bronchial infection by Pseudomonas aeruginosa (-1.37% (52.1 mL) vs -0.37% (-24.6 mL); p < 0.001), greater age, increased number of severe exacerbations in the previous year and higher baseline FEV1 value. DISCUSSION: In patients with bronchiectasis, the annual rate of FEV1 decline was -31.6 mL/year and it was faster in older patients and those with chronic bronchial infection by P. aeruginosa, increased number of previous severe exacerbations and higher baseline FEV1 value.

First record of clinical coccidiosis (Eimeria ovinoidalis) in adult sheep from northwestern Argentina.

Coccidiosis of sheep is an intestinal infection caused by protozoa of the genus Eimeria. An outbreak of the disease in adult sheep from Salta province, northwestern Argentina, was studied to establish its clinical, epidemiological, pathological and etiological aspects. The affected animals were part of a flock of 20 sheep brought from Formosa province about 10 days before. Most sheep (80% incidence) showed hemorrhagic diarrhea, dehydration and loss of body condition; six of them died and two that became permanently recumbent were euthanized. Three necropsied sheep showed mild mesenteric lymphadenomegaly, diffuse proliferative enteritis in the small and large intestines, and mucosal thickening. Histopathological studies exhibited diffuse proliferative enteritis and presence of structures compatible with intracellular coccidia at different stages of development. Parasitological studies (n = 12) resulted in an average of 16,636.6 (± 15,266.8) Eimeria oocysts per gram of feces (range 1680-46,400). Taxonomy of Eimeria species based on analysis of sporulated oocysts derived from 4 fecal samples (n = 100 oocyst per sample) showed, on average, a high prevalence of E. ovinoidalis (61.5%), followed by E. parva (27.2%), and lower proportions of E. crandallis (5.3%), E. ahsata (3.2%) and E. intricata (2.8%). Clinical and pathological findings confirmed the diagnosis of coccidiosis in the affected sheep; parasitological results showed that E. ovinoidalis was the main species responsible for the clinical signs. Clinical coccidiosis is considered unusual in adult sheep, but the present case shows that under favorable environmental and/or management conditions, this infection may be highly deleterious for adult sheep.

Limitation of therapeutic effort in patients hospitalised in departments of internal medicine. / Limitación del esfuerzo terapéutico en pacientes hospitalizados en servicios de medicina interna.

INTRODUCTION: There is little information on the limitation of therapeutic effort (LTE) in patients admitted to hospital internal medicine units. OBJECTIVES: To describe the indicated LTE regimens in the departments of internal medicine and the characteristics of the patients who undergo them. PATIENTS AND METHODS: An observational, descriptive retrospective study was conducted on 4 hospitals of the Community of Madrid. The study collected demographic and comorbidity data and the LTE orders prescribed for all patients who died during a period of 6 months. RESULTS: The study included 382 patients with a mean age of 85±10 years; 204 were women (53.4%) and 222 (58.1%) came from their homes. Some 51.1% of the patients were terminal, 43.2% had moderate to severe dementia, and 95.5% presented at least moderate comorbidity. Some type of LTE was performed in 318 patients (83.7%); the most common orders were "No cardiopulmonary resuscitation" (292 patients, 76.4%; 95% CI 72.1-80.8), "Do not use aggressive measures" (113 patients, 16.4%; 95% CI 13.7-19.4) and "Do not transfer to an intensive care unit" (102 cases, 14.8%, 95% CI 12.3-17.7). Some type of LTE was performed in 318 patients (83.7%); the most common orders were "No cardiopulmonary resuscitation" (292 patients, 76.4%; 95% CI 72.1-80.8), "Do not use aggressive measures" (113 patients, 16.4%; 95% CI 13.7-19.4) and "Do not transfer to an intensive care unit" (102 cases, 14.8%, 95% CI 12.3-17.7). CONCLUSIONS: LTE is common among patients who die in Internal Medicine. The most widely used regimens were "No CPR" and the unspecific statement "Do not use aggressive measures". The patients were elderly and had significant comorbidity, terminal illness and advanced dementia.

Traffic gridlock on a honeycomb city.

Inspired by an old and almost in oblivion urban plan, we report the behavior of the Biham-Middleton-Levine (BML) model-a paradigm for studying phase transitions of traffic flow-on a hypothetical city with a perfect honeycomb street network. In contrast with the original BML model on a square lattice, the same model on a honeycomb does not show any anisotropy or intermediate states, but a single continuous phase transition between free and totally congested flow, a transition that can be completely characterized by the tools of classical percolation. Although the transition occurs at a lower density than for the conventional BML, simple modifications, like randomly stopping the cars with a very small probability or increasing the traffic light periods, drives the model to perform better on honeycomb lattices. As traffic lights and disordered perturbations are inherent in real traffic, these results question the actual role of the square gridlike designs and suggest the honeycomb topology as an interesting alternative for urban planning in real cities.

Gait Disorder in a Cohort of Patients With Mild and Moderate Alzheimer's Disease.

Gait disturbance results in an increase in the risk of falls in patients with Alzheimer's disease (AD). The falls are events that might be related to an increase in the number of fractures, loss of mobility, being bedridden, early institutionalization, and increased use of medication. Therefore, the reduction in the number of falls is important for the maintenance of the functional independence of the patients as well as for the prevention of sequelae resulting from those events. Alterations in the gait occur very frequently in AD, and the gait disturbance occurs relatively early in the course of the disease. This study has important implications for public health and clinical practice. This study and previous studies have reported that abnormal gait predicts greater risk of falls, dementia, institutionalization, and death. The high prevalence and incidence of abnormal gait and its association with multiple adverse outcomes in older adults require urgent attention. Our results allow us to identify the risk factors.

Long-term outcomes of neovascular glaucoma treated with and without intravitreal bevacizumab.

AIMS: To compare the outcomes of neovascular glaucoma (NVG) treated with and without intravitreal bevacizumab in a large case comparison study. METHODS: The study is a retrospective, comparative, case series of 163 eyes of 151 patients with NVG, including 99 treated without and 64 treated with intravitreal bevacizumab. Medical and surgical treatments for NVG were assessed. The main outcome measures were visual acuity (VA) and intraocular pressure (IOP). RESULTS: At the time of NVG diagnosis, the median VA was count fingers (CF) in the non-bevacizumab group and 2/300 in the bevacizumab group. IOP (mean±SD) was 43.1±13.0 mm Hg in the non-bevacizumab group and 40.8±11.5 mm Hg in the bevacizumab group. IOP (mean±SD) decreased to 18.3±13.8 mm Hg in the non-bevacizumab group and 15.3±8.0 mm Hg in the bevacizumab group, and the median VA was CF in both treatment groups at a mean follow-up of 12 months. Panretinal photocoagulation (PRP) substantially reduced the need for glaucoma surgery (P<0.001) in bevacizumab treated NVG eyes. CONCLUSIONS: Although bevacizumab delayed the need for glaucoma surgery, PRP was the most important factor that reduced the need for surgery. Vision and IOP in eyes with NVG treated with bevacizumab showed no long-term differences when compared with eyes that were not treated with bevacizumab. Thus, intravitreal bevacizumab serves as an effective temporizing treatment, but is not a replacement for close monitoring and definitive treatment of NVG. PRP remains the treatment modality that affects the course of NVG in terms of decreasing the need for surgery to control IOP.

End-diastolic wall thickness as a predictor of recovery of function in myocardial hibernation: relation to rest-redistribution T1-201 tomography and dobutamine stress echocardiography.

OBJECTIVES: The study assessed whether end-diastolic wall thickness (EDWT), measured with echocardiography, is an important marker of myocardial viability in patients with suspected myocardial hibernation, and it compared this index to currently established diagnostic modalities of dobutamine stress echocardiography (DSE) and rest-redistribution thallium-201 (T1-201) scintigraphy. BACKGROUND: Because myocardial necrosis is associated with myocardial thinning, preserved EDWT may provide a simple index of myocardial viability that is readily available from the resting echocardiogram. METHODS: Accordingly, 45 patients with stable coronary artery disease and ventricular dysfunction underwent rest 2D echocardiograms, DSE and rest-redistribution T1-201 tomography before revascularization and a repeat resting echocardiogram > or =2 months later. RESULTS: Global wall motion score index decreased from 2.38 +/- 0.73 to 1.94 +/- 0.82 after revascularization (p < 0.001). Thirty-eight percent of severely dysfunctional segments recovered resting function. Compared to segments without recovery of resting function, those with recovery had greater EDWT (0.94 +/- 0.18 cm vs. 0.67 +/- 0.22 cm, p < or = 0.0001) and a higher T1-201 uptake (78 +/- 13% vs. 59 +/- 21%; p < 0.0001). An EDWT >0.6 cm had a sensitivity of 94% and specificity of 48% for recovery of function. Similarly, a T1-201 maximal uptake of > or =60% had a sensitivity of 91% and specificity of 50%. Receiver operating characteristic curves for prediction of recovery of regional and global function were similar for EDWT and maximum T1-201 uptake. Combination of EDWT and any contractile reserve during DSE for recovery of regional function improved the specificity to 77% without a significant loss in sensitivity (88%). CONCLUSIONS: End-diastolic wall thickness is an important marker of myocardial viability in patients with suspected hibernation, and it can predict recovery of function similar to T1-201 scintigraphy. Importantly, a simple measurement of EDWT < or =0.6 cm virtually excludes the potential for recovery of function and is a valuable adjunct to DSE in the assessment of myocardial viability.

Unraveling the puzzling intermediate states in the Biham-Middleton-Levine traffic model.

The Biham-Middleton-Levine (BML) traffic model, a cellular automaton with eastbound and northbound cars moving by turns on a square lattice, has been an underpinning model in the study of collective behavior by cars, pedestrians, and even internet packages. Contrary to initial beliefs that the model exhibits a sharp phase transition from freely flowing to fully jammed, it has been reported that it shows intermediate stable phases, where jams and freely flowing traffic coexist, but there is no clear understanding of their origin. Here, we analyze the model as an anisotropic system with a preferred fluid direction (northeast) and find that it exhibits two differentiated phase transitions: the system is either longer in the flow direction (longitudinal) or perpendicular to it (transversal). The critical densities where these transitions occur enclose the density interval of intermediate states and can be approximated by mean-field analysis, all derived from the anisotropic exponent relating the longitudinal and transversal correlation lengths. Thus, we arrive at the interesting result that the puzzling intermediate states in the original model are just a superposition of these two different behaviors of the phase transition, solving by the way most mysteries behind the BML model, which turns out to be a paradigmatic example of such anisotropic critical systems.

Application of the continuity equation and valve resistance to the evaluation of St. Jude Medical prosthetic aortic valve dysfunction.

Doppler echocardiography was applied to the assessment of patients with surgically documented St. Jude medical aortic valve dysfunction. Derivation of effective orifice area and Doppler velocity index with the continuity equation and calculation of valve resistance accurately differentiated stenotic from regurgitant and normal valves.

Usefulness of transthoracic echocardiography in detecting significant prosthetic mitral valve regurgitation.

To identify the transthoracic echo-Doppler (TTE) variables most predictive of significant mitral regurgitation (MR) of mechanical prosthetic valves, TTE and trans-esophageal echo (TEE) studies were independently reviewed in 57 patients (mean age [+/-SD] 59+/-12.5 years) undergoing both studies within 2+/-3 days. Several 2-dimensional and Doppler hemodynamic variables from the TTE studies were derived. Prosthetic MR was significant (moderate or severe) by TEE in 20 patients, whereas mild or no MR was seen in 37 patients. The best univariate predictors of significant MR by TTE were peak velocity of mitral inflow, mean gradient, tricuspid regurgitation velocity, isovolumic relaxation time, and ratio of time velocity integral of mitral inflow to time velocity integral in the left ventricular outflow (TVI(MV)/TVI(LVO)). Peak mitral velocity and TVI(MV)/TVI(LVO) were the best predictors of significant MR and performed similarly (area under the receiver-operating characteristic curve: 0.97 for both). A peak velocity of > or =1.9 m/s was 90% sensitive and 89% specific for significant prosthetic MR, whereas a TVI(MV)/TVI(LVO) > or =2.5 had a sensitivity and specificity of 89% and 91%, respectively. A decision tree was constructed to assess the conditional probabilities of having significant MR given all the possible outcomes of the 2 best predictors. None of the patients with peak velocity < 1.9 m/s and TVI(MV)/TVI(LVO) <2.5 by TTE had significant MR. Conversely, all patients with peak velocity > or =1.9 m/s and TVI(MV)/TVI(LVO) > or =2.5 had significant MR. The use of more complex algorithms did not further improve the results. Thus, measurements of hemodynamic Doppler variables on TTE examination can accurately identify a large number of patients without significant prosthetic MR, thereby reducing the need for further investigation with TEE.

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.

PURPOSE: Congenital cataracts constitute a morphologically and genetically heterogeneous group of diseases that are a major cause of childhood blindness. Autosomal Dominant Zonular Cataracts with Sutural Opacities (CCZS) have been mapped to chromosome 17q11-q12 near the betaA3A1-crystallin gene (CRYBA1). The betaA3A1-crystallin gene was investigated as the causative gene for the cataracts. METHODS: The betaA3/A1-crystallin gene was sequenced in affected and control individuals. Base changes were confirmed and assayed in additional family members and controls using NlaIII restriction digestion of PCR amplified DNA sequences. Base changes were assessed for their effects on splicing by information analysis. RESULTS: The cataracts are associated with a sequence change in the 5' (donor) splice site of intron 3: GC(g->a)tgagt. The sequence change also creates a new NlaIII site. This base change cosegregates with the cataracts in this family, being present in every affected individual. Conversely, this base change was not seen in 140 chromosomes examined in 70 unaffected and unrelated individuals. Information theory mutational analysis shows that the base change lowers the information content of the splice site from 6.0 to -6.8 bits, so that splicing would not be expected to occur at the altered site. CONCLUSIONS: Taken together, these observations suggest that the observed mutation might be causally related to the cataracts in this family.