Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.

Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. Its prevalence varies according to the studied population. Here, we report the molecular analysis of 81 patients with OI followed at reference centers in Brazil and France presenting COL1A1 or COL1A2 variants. Patients were submitted to clinical and radiographic dental examinations to diagnose the presence of DI. In addition, a systematic literature search and a descriptive statistical analysis were performed to investigate OI/DI phenotype-genotype correlation in a worldwide sample. In our cohort, 50 patients had COL1A1 pathogenic variants, and 31 patients had COL1A2 variants. A total of 25 novel variants were identified. Overall, data from a total of 906 individuals with OI were assessed. Results show that DI was more frequent in severe and moderate OI cases. DI prevalence was also more often associated with COL1A2 (67.6%) than with COL1A1 variants (45.4%) because COL1A2 variants mainly lead to qualitative defects that predispose to DI more than quantitative defects. For the first time, 4 DI hotspots were identified. In addition, we showed that 1) glycine substitution by branched and charged amino acids in the α2(I) chain and 2) substitutions occurring in major ligand binding regions-MLRB2 in α1(I) and MLBR 3 in α2(I)-could significantly predict DI (P < 0.05). The accumulated variant data analysis in this study provides a further basis for increasing our comprehension to better predict the occurrence and severity of DI and appropriate OI patient management.

Subsampled digital holographic image reconstruction by a compressive sensing approach.

We show an in-line digital holographic image reconstruction from subsampled holograms with resolution improvement and lensless magnification with high noise immunity by a compressive sensing approach. Our method treats the sensed field as subsampled, low-pass filtered and projected on a Fresnel-Bluestein base in an inverse problem approach to image reconstruction with controlled lensless magnification. So, we have demonstrated by simulation and experimental results that the approach can reconstruct images with quality even when used in holograms obtained from unusual subsampling schemes.

Estimation of statistical properties of rough surface profiles from the Hurst exponent of speckle patterns.

We applied the Hurst exponent technique to an experimental study of rough metallic surface profiles and the speckle patterns generated by them. Characterization of important statistical properties of the surface profile and speckle patterns were performed. We observed a clear correlation between the Hurst exponent of a surface profile and the one calculated from the associated speckle patterns. Therefore, in principle, information of the Hurst exponent of the profile can be obtained from the Hurst exponent of speckle patterns. Range and sampling analyses were performed in the Hurst exponent calculations showing the robustness of the method. As an additional application, we performed a basic simulation to show that the Hurst exponent is sensitive to surface waviness.

Saccharomyces cerevisiae (YT001) supplementation for the control of Haemonchus contortus and modulation of the immune response of sheep.

Studies aiming at the development and evaluation of alternative methods to minimise losses caused by the gastrointestinal nematode Haemonchus contortus are extremely important. Such research is essential, given the high morbidity rates among sheep and the significant mortality rates of lambs, allied to the low efficacy of commercial products for the control of this parasite. The purpose of this study was to evaluate the effect of the Saccharomyces cerevisiae (YT001 - YEASTECH) on the control of H. contortus and its modulation of the immune response in experimentally infected sheep. Eighteen sheep were divided into two groups. Group 1, the control group, comprised animals infected with H. contortus and supplemented with distilled water, while Group 2, the treated group, consisted of animals infected and supplemented with S. cerevisiae (400 million cfu/day of suspension for 49 days). The following parasitological parameters were evaluated: number of eggs per gram of faeces, number of infective larvae (L3) recovered per faecal culture, and parasitic load of the abomasum. The following immunological parameters were quantified: immunoglobulin (Ig)A in the mucous secretions and serum IgG; cytokines interleukin (IL)-4, IL-5 and IL-10; number of eosinophils in the abomasal mucosa and groups of cells positive for the markers: MHCII, CD4+CD25+, CD5+CD8+, WC4, CD5+CD4+, CD8+CD11b+ and CD5+WC1 by whole blood flow cytometry. The results revealed a significant decrease (P<0.05) in the number of larvae and significantly higher serum IgG levels (P<0.05) in the group supplemented with S. cerevisiae. The supplemented animals showed significantly larger numbers of eosinophils (P<0.05), as well as more cells positive for MHCII, CD4+CD25+, CD5+CD8+ than the control animals. This study confirmed the beneficial action of S. cerevisiae on the host immune response to H. contortus, as evidenced mainly by the smaller number of L3 recovered from the faeces of sheep supplemented with S. cerevisiae.

Photorefractive moiré-like patterns for the multifringe projection method in Fourier transform profilometry.

In the present paper, the method of simultaneous moiré-like fringe pattern projection for Fourier transform profilometry is described. The photorefractive holographic interferometric process produces controlled moiré-like patterns with two or more different variation directions. Each low spatial frequency fringe pattern is experimentally obtained as a result of the superposition of two high spatial frequency sinusoidal gratings, with slightly different pitches, for each fringe variation direction. These dynamic moiré-like patterns are induced due to an optical holographic beating of the sinusoidal induced gratings in the volume of the photorefractive Bi12TiO20 (BTO) crystal sample used as dynamic holographic medium. Two or more moiré-like fringe patterns, with at least two different variation directions, simultaneously (or not), are projected onto the object surface. Thus, this is the 2D fringe projection stage of our proposed Fourier transform procedure to determine the profile of a simple object.

Branch-cut algorithm for optical phase unwrapping.

In this Letter, a proposal addressing the problem of two-dimensional phase unwrapping based on the theory of residues is presented. Here, wrapped phase maps with shifted phase jumps are used to balance residue charges. With this approach, we seek to minimize processing time and residue connection, which is essential in the development of branch-cut algorithms. Finally, a phase-unwrapping algorithm is applied to these wrapped maps, generated by Fourier transform profilometry to obtain three-dimensional profiles of objects illuminated by photorefractive moiré-like patterns generated in an experiment of real-time dynamic holography, and by fringe patterns generated with a Michelson interferometer.

Photorefractive holographic moiré-like patterns for secure numerical code generation.

In this Letter, low-frequency photorefractive holographic moiré fringe patterns are proposed as secure numerical code generators that could be useful for storage or data transmission. These dynamic moiré patterns are holographically obtained by the superposition of two or more sinusoidal gratings with slightly different pitches. The Bi(12)TiO(20) photorefractive crystal sample is used as holographic medium. An optical numerical base was defined with patterns representing the 0, 1 and -1 digits as bits. Then, the complete set of these optical bits is combined to form bytes, where a numerical sequence is represented. The results show that the proposed numerical code is simple, robust and extremely secure, then could be used efficiently as standard numerical identification in robotic vision or eventually in storage or transmission of secure numerical data.

Topological defects in moiré fringes with spiral zone plates.

We present a study of spatial structures created by superposition of spiral zone plates used for generating optical beams with phase singularities. Moiré fringes are observed that show topological defects similar to those appearing in interference patterns of optical vortices. A brief theoretical discussion is included that supports the similarities between the two phenomena. Our results may lead to interesting applications to digital information processing by optical means.

Evaluation of motivation methods used to obtain appropriate oral hygiene levels in schoolchildren.

The aim of the present study is to assess the behaviour of different motivation methods on levels of oral hygiene among schoolchildren aged from 7 to 9 years in Araraquara, SP, Brazil. The methods tested were: indirect instruction using 'The Smiling Robot' (group I), indirect instruction through class presentation (group II) and direct instruction with macromodels (group III). A control group was also constituted, which received no kind of motivation (group IV). The O'Leary Plaque Index was used as the evaluation method, applied before the instruction and 30 days after application of the different methods. It was noted that the plaque index had not decreased in group IV only. In conclusion, all the motivation methods promoted significant decrease of plaque index and among these methods, the 'The Smiling Robot' was the one that provided the best results.

Dynamic holographic moiré patterns in photorefractive Bi12TiO20 and small-angle measurements.

A procedure for obtaining real-time holographic moirélike patterns and measuring small angles is proposed. Two rotated sinusoidal phase gratings are superposed, and the result represents a promising technique for making small-angle measurements in metrological applications. The experiments are performed with a diffusion-only recording mechanism in the photorefractive crystal Bi12TiO20 illuminated by lambda = 0.633 microm light from a He-Ne laser.

Jejunal perforation caused by abdominal angiostrongyliasis.

The authors describe a case of abdominal angiostrongyliasis in an adult patient presenting acute abdominal pain caused by jejunal perforation. The case was unusual, as this affliction habitually involves the terminal ileum, appendix, cecum or ascending colon. The disease is caused by the nematode Angiostrongylus costaricensis, whose definitive hosts are forest rodents while snails and slugs are its intermediate hosts. Infection in humans is accidental and occurs via the ingestion of snail or slug mucoid secretions found on vegetables, or by direct contact with the mucus. Abdominal angiostrongyliasis is clinically characterized by prolonged fever, anorexia, abdominal pain in the right-lower quadrant, and peripheral blood eosinophilia. Although usually of a benign nature, its course may evolve to more complicated forms such as intestinal obstruction or perforation likely to require a surgical approach. Currently, no efficient medication for the treatment of abdominal angiostrongyliasis is known to be available. In this study, the authors provide a review on the subject, considering its etiopathogeny, clinical picture, diagnosis and treatment.

Effects of propranolol on the QT dispersion in congestive heart failure.

OBJECTIVE: Studies have shown that therapy with beta-blockers reduces mortality in patients with heart failure. However, there are no studies describing the effects of propranolol on the QT dispersion in this population. The objective of this study was to assess the electrophysiological profile, mainly QT dispersion, of patients with heart failure regularly using propranolol. METHODS: Fifteen patients with heart failure and using propranolol were assessed over a period of 12 months. Twelve-lead electrocardiograms (ECG) were recorded prior to the onset of beta-blocker therapy and after 3 months of drug use. RESULTS: A significant reduction in heart rate, in QT dispersion and in QTc dispersion was observed, as was also an increase in the PR interval and in the QT interval, after the use of propranolol in an average dosage of 100 mg/day. CONCLUSION: Reduction in QT dispersion in patients with heart failure using propranolol may explain the reduction in the risk of sudden cardiac death with beta-blocker therapy, in this specific group of patients.

Frostbite and bone scanning: the use of 99m-labeled phosphates in demarcating the line of viability in frostbite victims.

Early diagnosis of the extent of bone and soft tissue damage is a very important step in treating a frostbite victim. The diagnostic use of Tc-99m-phosphates in assessing the viability of soft tissue and bone in frostbite was evaluated in the early post-thaw period. Four patients were treated with a combination of warm baths, rehydration, vasodilators, epidural block, fasciotomy, and debridement. Six scans were done to stage involvement. In three of the four cases, final involvement could be determined as early as the third day. When a specific level of soft tissue or bone uptake was determined, future scanning showed either improvement, or no change in three of the four patients. In our experience, Tc-99m-phosphate scans represent an improvement over other diagnostic tests for viability of tissues.

Antishock trousers: a comparison of inflation techniques and inflation pressures.

Ten healthy male volunteers were studied to compare the effects of simultaneous versus sequential inflation of antishock trousers (AST) and simultaneous inflation pressures of 20, 40, and 100 mm Hg on blood volume displacement centrally. Radioisotope scans were used to determine the change in blood volume distribution with various inflation methods and inflation pressures of the AST. Our data suggest that the minimum inflation pressure that displaces blood centrally is 40 mm Hg, and that higher inflation pressures displace a greater percentage of the total blood volume to the central circulation than do lower pressures. The difference is small, however, and probably has no clinical effect. No difference was suggested between simultaneous and sequential inflation.

Blood volume distribution in the Trendelenburg position.

The Trendelenburg position is used frequently in treating hypotensive patients. It is believed that placing patients in the Trendelenburg position causes an autotransfusion of blood to the central circulation. No published studies document the volume of blood displaced centrally. In our study ten volunteers were placed in the Trendelenburg position. Blood volumes were determined from body surface area, and radionuclide scanning was used to determine blood volume distribution. Placing normovolemic volunteers in the Trendelenburg resulted in a 1.8% (median) displacement of the total volume centrally. The autotransfusion of blood produced by the Trendelenburg position is small and is unlikely to have an important clinical effect.

The use of gated radionuclide angiography in the diagnosis of cardiac contusion.

No currently used diagnostic test is an accurate predictor of patients who will develop morbidity or mortality from cardiac contusion. In a prospective study we used gated cardiac radionuclide angiography to assess cardiac function in 30 patients with blunt chest trauma, and we compared the results of this test with those of other diagnostic studies for cardiac contusion to determine whether gated angiography is a more accurate predictor of serious cardiac injury. Diagnostic tests included the following: serial electrocardiograms (ECG), serial creatine phosphokinase muscle-brain isoenzyme (CPK-MB) and lactic dehydrogenase (LDH) isoenzymes, gated cardiac radionuclide angiography, and technetium-99m (Tc-99m) pyrophosphate scintigraphy. Abnormal studies were present in 26 patients; 22 showed abnormalities in CPK-MB, 19 on ECG, and five on gated scan. No patient demonstrated an abnormal Tc-99m pyrophosphate scan or abnormal elevation of LDH isoenzyme. Although no diagnostic test was predictive of morbidity and mortality, CPK-MB isoenzyme was the only test to correlate with morbidity and mortality. Morbidity and mortality correlated most closely with the number of associated major injuries and the presence of hypotension or hypoxia.

Blood volume displacement with inflation of antishock trousers.

Eleven healthy male volunteers were studied to determine the amount of blood displaced by the inflation of the antishock trousers (AST) at pressures of 40 and 100 mm Hg. Radioisotope scans were used to determine the blood volume distribution and the change in the volume of distribution with inflation of the AST. The volunteers were then phlebotomized approximately one liter of blood and the study was repeated. Less than 5% of the total blood volume was displaced with inflation of the AST. It is unlikely that the clinical improvement seen with inflation of the AST in hypovolemic shock is due to autotransfusion of blood alone.

An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations.

We describe a 20-year-old woman with generalized trichodysplasia, dry skin with scaling, hyperchromic spots on limbs, hyperkeratosis (particularly intense on soles), dermatoglyphic abnormalities, onychodysplasia, shortness of stature, kyphoscoliosis, unusual facial appearance, minor malformations of limbs, bilateral nuclear cataract, narrow palpebral fissures, entropion, trichiasis, etc. The condition is probably due to an autosomal recessive gene. The patient is the only affected member in a sibship of four whose parents are second cousins.

Radionuclide venography as an outpatient screening test for deep venous thrombosis.

This study evaluated the use of radionuclide venography (RNV) as a screening test for patients with signs and symptoms of deep venous thrombosis (DVT). Seventy patients underwent RNV; 27 of the 70 patients also had contrast venography. The incidence of DVT was 19% (13 of 70). RNV had an observed sensitivity of 93% and an observed specificity of 100%. Follow-up at one month revealed no evidence of thromboembolic disease in patients with a negative scan. RNV is an accurate, practical screening test for DVT.