Clinicopathologic features of nasopalatine duct cysts: A retrospective study in two Brazilian oral and maxillofacial pathology referral centers.

BACKGROUND: Nasopalatine duct cyst (NDC) is the most common non-odontogenic cyst in the oral cavity. Clinically it is not difficult to suspect these lesions based on clinical and radiographic appearance. However, the histopathological diagnosis may be difficult due to the broad morphological diversity of these lesions. The objective was to analyze the clinicopathological features of NDCs diagnosed in two oral and maxillofacial pathology services in the Brazilian northeast. MATERIAL AND METHODS: A retrospective clinicopathologic study was performed. A total of 18,121 clinical records of oral lesions from two oral and maxillofacial pathology services in Brazil were analyzed (2000-2020). All NDCs cases were revised and demographic, clinical, radiographic, and histopathological data were collected. RESULTS: Among 18,121 diagnoses in the oral pathology services, 45 (0.2%) were NDCs. The series comprises 24 males (53.3%) and 21 females (46.7%), with a mean age of 43.2 years-old. Most lesions were asymptomatic (n = 27, 60%) with an mean size of 2.1 cm. Microscopically, the non-keratinized stratified squamous epithelium was the most common (66.7%). However, in 88.9% of cases, the epithelial lining was varied and composed of two or more types of epithelium. There was no significant association between the type of epithelium and the size of the cysts (p = 0.389). Nerve, blood vessels, hemorrhage, and chronic inflammatory infiltrate were commonly observed. In contrast, there was a low frequency of mucous glands, sebaceous glands, cholesterol clefts, and multinucleated giant cells. CONCLUSIONS: The clinical, radiographic, and microscopic findings observed in this study are similar to those reported in the literature. Due to the morphological diversity of NDC, it is needed to correlate its histopathological features with the clinical and radiographic findings to establish a correct diagnosis.

Risk clusters of COVID-19 transmission in northeastern Brazil: prospective space-time modelling.

This study aimed to analyse the trend and spatial-temporal clusters of risk of transmission of COVID-19 in northeastern Brazil. We conducted an ecological study using spatial and temporal trend analysis. All confirmed cases of COVID-19 in the Northeast region of Brazil were included, from 7 March to 22 May 2020. We used the segmented log-linear regression model to assess time trends, and the local empirical Bayesian estimator, the global and local Moran indexes for spatial analysis. The prospective space-time scan statistic was performed using the Poisson probability distribution model. There were 113 951 confirmed cases of COVID-19. The average incidence rate was 199.73 cases/100 000 inhabitants. We observed an increasing trend in the incidence rate in all states. Spatial autocorrelation was reported in metropolitan areas, and 178 municipalities were considered a priority, especially in the states of Ceará and Maranhão. We identified 11 spatiotemporal clusters of COVID-19 cases; the primary cluster included 70 municipalities from Ceará state. COVID-19 epidemic is increasing rapidly throughout the Northeast region of Brazil, with dispersion towards countryside. It was identified high risk clusters for COVID-19, especially in the coastal side.

COVID-19 mortality in an area of northeast Brazil: epidemiological characteristics and prospective spatiotemporal modelling.

This study aimed to analyse the spatial-temporal distribution of COVID-19 mortality in Sergipe, Northeast, Brazil. It was an ecological study utilising spatiotemporal analysis techniques that included all deaths confirmed by COVID-19 in Sergipe, from 2 April to 14 June 2020. Mortality rates were calculated per 100 000 inhabitants and the temporal trends were analysed using a segmented log-linear model. For spatial analysis, the Kernel estimator was used and the crude mortality rates were smoothed by the empirical Bayesian method. The space-time prospective scan statistics applied the Poisson's probability distribution model. There were 391 COVID-19 registered deaths, with the majority among ⩾60 years old (62%) and males (53%). The most prevalent comorbidities were hypertension (40%), diabetes (31%) and cardiovascular disease (15%). An increasing mortality trend across the state was observed, with a higher increase in the countryside. An active spatiotemporal cluster of mortality comprising the metropolitan area and neighbouring cities was identified. The trend of COVID-19 mortality in Sergipe was increasing and the spatial distribution of deaths was heterogeneous with progression towards the countryside. Therefore, the use of spatial analysis techniques may contribute to surveillance and control of COVID-19 pandemic.

Measurements of experimental precision for trials with cowpea (Vigna unguiculata L. Walp.) genotypes.

The aim of this study was to evaluate the suitability of statistics as experimental precision degree measures for trials with cowpea (Vigna unguiculata L. Walp.) genotypes. Cowpea genotype yields were evaluated in 29 trials conducted in Brazil between 2005 and 2012. The genotypes were evaluated with a randomized block design with four replications. Ten statistics that were estimated for each trial were compared using descriptive statistics, Pearson correlations, and path analysis. According to the class limits established, selective accuracy and F-test values for genotype, heritability, and the coefficient of determination adequately estimated the degree of experimental precision. Using these statistics, 86.21% of the trials had adequate experimental precision. Selective accuracy and the F-test values for genotype, heritability, and the coefficient of determination were directly related to each other, and were more suitable than the coefficient of variation and the least significant difference (by the Tukey test) to evaluate experimental precision in trials with cowpea genotypes.

Progesterone and behavioral features when estrous is induced in Alpine goats.

The objective of the present study was to evaluate the endocrine and behavioral features of estrous-induced Alpine goats. A total of 36 nulliparous, 40 non-lactating and 42 lactating does were treated with intravaginal 60 mg medroxyprogesterone acetate sponges for 9 d plus 200 IU eCG and 22.5 microg d-cloprostenol 24 h before sponge removal. Plasma progesterone concentration was analyzed from blood sampled on days 0 (sponge insertion), 5, 8 (cloprostenol administration) and 9 (sponge removal) in 11 nulliparous, 13 non-lactating and 11 lactating does. Estrous response did not differ (P>0.05) among nulliparous (97.2%), non-lactating (90.00%) and lactating does (85.7%). Interval to estrus and duration of estrus did not differ (P>0.05) among nulliparous (22.8+/-9.9 and 25.6+/-6.8h), non-lactating (23.7+/-15.8 and 25.0+/-6.0 h) and lactating does (22.2+/-10.4 and 24.9+/-4.2h). The accumulative percentage of does in estrus during the first 36 h after sponge removal was 88.1%. The correlation between interval to estrus and duration of estrus was r=-0.32 (P<0.001). Endogenous progesterone production is decreased until day 8 or suppressed by MAP on day 9. Conception rate was greater (P<0.01) in lactating (77.8%) than non-lactating (44.4%) but similar (P>0.05) to nulliparous (60.0%) goats. Estrus can be efficiently induced by means of hormonal treatment in goats and acceptable fertility can be obtained regardless of animal category.

Structural evaluation of type 3 dopaminergic receptor gene (DRD3) in chronic anovulatory women.

Dopamine receptor type 3 (DRD3) expressed in the limbic system sites involved in the regulation of GnRH seems to play a role in neuroendocrine control. We hypothesized that women with chronic anovulation should show exacerbated secretion of prolactin (PRL) after thyrotropin-releasing hormone (TRH) stimulation test, having more chances for dopamine inhibitory dysfunction due to alterations in the structure of DRD3. The DRD3-coding region was evaluated in 60 women with chronic anovulation (35 without and 25 with hyperresponse of PRL after TRH stimulation), and in 34 controls. Statistically similar frequencies of homozygous AGC polymorphism (43.4 and 33.4%) and heterozygous polymorphism (33.4 and 47.9%) at position 9 were found in controls and patients, respectively. Homozygous GCG polymorphism at position 17 was identified in 3.4% of the patients, while heterozygosis occurred in 20.8% of the patients and in 6.6% of the controls. The novel 41563_41567delTAAGT polymorphism of DRD3 was identified in 14.7% of the controls and 8.6% of the women with chronic anovulation displaying hyperresponse of PRL after TRH stimulation. Alteration 41563_41567delTAAGT of DRD3 was not found in patients who did not show hyperresponse of PRL after TRH stimulation. Normal baseline and peak levels of PRL and thyroid-stimulating hormone were similar for women with and without 41563_41567delTAAGT in the DRD3 gene. It is concluded that the novel polymorphism in DRD3 identified in this study is not associated with the response of PRL to TRH stimulation in women with chronic anovulation.

Influence of antibody immobilization strategies on the analytical performance of a magneto-elastic immunosensor for Staphylococcus aureus detection.

Magneto-elastic (ME) sensors have a great advantage in microbiology due to their ability to be queried wirelessly. Staphylococcus aureus is one of the most common bacteria widespread in the environment and a major human pathogen related to numerous illnesses. Immunosensors are affinity-based assays where the analyte is highly selective. The immobilization of antibodies (Ab) is an important step in the development of such devices. This study compared the effects of two antibody immobilization strategies on the analytical performance of a magneto-elastic immunosensor: (1) random antibody covalent immobilization (CysAb) and (2) specific-oriented antibody covalent immobilization (PrGAb). Immunosensors were exposed to solutions containing S. aureus at different concentrations (104 to 108CFU/ml) and sensor resonant frequencies were measured. In order to confirm that the frequency shifts were mainly caused by the binding of S. aureus to the sensor's surface, scanning electron microscope (SEM) and indirect immunofluorescence (IIF) images were taken after bacteria exposure at 108CFU/ml. Sensor surfaces were further monitored by non-contact topographic atomic force microscopy (AFM) images. In the covalent-oriented strategy, PrG was first bound covalently to the surface, which in turn, then binds the anti-S. aureus antibody in an oriented manner. Topographic AFM images showed different surface patterns between the two antibody immobilization strategies. Specific-oriented antibody covalent immobilization (PrGAb) strategy gave the highest anti-S. aureus antibody immobilization density. Therefore, the covalent-oriented strategy presented the best performance for S. aureus capture, detecting 104CFU/ml.

Transitions in the orientational order of liquid crystals induced by periodic patterned substrates.

The orientational order of liquid crystals (LCs) induced by periodic patterned substrates has been investigated with cells coated by azopolymer films that could be photoaligned in a controlled way. Two regimes were observed depending on the period of the patterns: (i) above 3.0 microm the LC follows the direction imposed by the patterned substrate since the energy stored in the surface potential minimizes the elastic energy of the LC medium. (ii) For periods smaller than 1.0 microm a homogeneous in-plane state was induced and the LC did not follow the orientation imposed by the surface. This in-plane transition could be explained qualitatively by a theoretical model based on the competition between the Frank-Oseen elastic energy and the phenomenological surface potential. The results also suggest an out-of-plane transition for the LC director as the period was reduced. These results agree with data in the literature for patterned substrates with completely distinct architectures. This indicates that for a particular LC sample the overall behavior depends basically on the texture period instead of the texture architecture. The textures were characterized with a scanning near-field optical microscope (SNOM), which allowed simultaneous morphological and optical images in the submicrometer range.

Development of more efficacious antibodies for medical therapy and diagnosis.

Two procedures for improving the efficacy of medically important antibodies are described. The first procedure is designed to reduce the immunogenicity of nonhuman antibodies to the barest minimum--the "humanization" is accomplished by transplanting only the specificity-determining residues of the nonhuman antibody onto a human antibody template. The second procedure is designed to permit the easy production of multispecific/multivalent antibodies via heterodimer formation of electrostatically complementary Fc regions.

Effect of surface roughness on performance of magnetoelastic biosensors for the detection of Escherichia coli.

Escherichia coli are bacteria that must be controlled in the food industry and the hospital sector. Magnetoelastic biosensors offer the promise of rapid identification of these and other harmful antigens. In this work, strips of amorphous Metglas 2826MB3 were cut to size (5 mm × 1 mm) with a microdicing saw and were then coated with thin layers of Cr and Au, as verified by Rutherford backscattering spectroscopy (RBS). Several sensor surfaces were studied: 1) as-cast strip, wheel side; 2) as-cast strip, free surface; and 3) thinned and polished surface. A layer of cystamine was applied to the Au-covered magnetoelastic substrate, forming a self-assembledmonolayer (SAM), followed by antibodies, using a modified Hermanson protocol. The cystamine layer growth was verified by Fourier transform infrared spectroscopy (FTIR) and scanning electronmicroscopy (SEM). The biosensors were exposed to solutions of bacteria and the resonant frequency of the sensors was measured with an impedance analyzer for times up to 100 min. Reductions in the resonant frequency, corresponding to bacteria capture, were measured after optimizing the signal amplitude. For times up to 40 min, high capture rates were observed and thereafter saturation occurred. Saturation values of the frequency shifts were compared with the number of bacteria observed on the sensor using fluorescence microscopy. Parameters associated with capture kinetics were studied for different sensor surfaces. The rough surfaces were found to show a faster response, while the thinned and polished sensors showed the largest frequency shift.

Biocompatibility and degradation of gold-covered magneto-elastic biosensors exposed to cell culture.

Magneto-elastic materials (ME) have important advantages when applied as biosensors due to the possibility of wireless monitoring. Commercial Metglas 2826MB3™ (FeNiMoB) is widely used, however sensor stabilization is an important factor for biosensor performance. This study compared the effects of biocompatibility and degradation of the Metglas 2826MB3™ alloy, covered or not with a gold layer, when in contact with cell culture medium. Strips of amorphous Metglas 2826MB3™ were cut and coated with thin layers of Cr and Au, as verified by Rutherford Backscattering Spectroscopy (RBS). Using Inductively Coupled Plasma-Optical Emission Spectrometry (ICP-OES), the presence of metals in the culture medium was quantitatively determined for up to seven days after alloy exposure. Biocompatibility of fibroblast Chinese Hamster Ovary (CHO) cultures was tested and cytotoxicity parameters were investigated by indirect means of reduction of MTT (3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide) at 1, 2 and 7 days. Cell death was further evaluated through in situ analysis using Acridine Orange/Ethidium Bromide (AO/EB) staining and images were processed with ImageJ software. Ions from Metglas(®) 2826MB3™ induced a degradation process in living organisms. The cytotoxicity assay showed a decrease in the percentage of live cells compared to control for the ME strip not coated with gold. AO/EB in situ staining revealed that most of the cells grown on top of the gold-covered sensor presented a normal morphology (85.46%). Covering ME sensors with a gold coating improved their effectiveness by generating protection of the transducer by reducing the release of ions and promoting a significant cell survival.

Body adiposity and bone parameters of male rats from mothers fed diet containing flaxseed flour during lactation.

Obesity and osteoporosis may have their origins in early postnatal life. This study was designed to evaluate whether flaxseed flour use during lactation period bears effect on body adiposity and skeletal structure of male rat pups at weaning. At birth, male Wistar rats were randomly assigned to control and experimental (FF) groups, whose dams were treated with control or flaxseed flour diet, respectively, during lactation. At 21 days of age, pups were weaned to assess body mass, length and composition by dual-energy X-ray absorptiometry. The animals were then sacrificed to carry out analysis of serum profile, intra-abdominal adipocyte morphology and femur characteristics. Differences were considered significant when P<0.05. The FF group displayed the following characteristics (P<0.05): higher body mass, length, bone mineral content, bone area and concentrations of osteoprotegerin, osteocalcin and high-density lipoprotein cholesterol; higher levels of stearic, α-linolenic, eicosapentaenoic and docosapentaenoic acids and lower levels of arachidonic acid and cholesterol; smaller adipocyte area; and higher mass, epiphysis distance, diaphysis width, maximal load, break load, resilience and stiffness of femur. Flaxseed flour intake during lactation period promoted adipocyte hypertrophy down-regulation and contributed to pup bone quality at weaning.

Generation and characterization of a single gene-encoded single-chain-tetravalent antitumor antibody.

Monoclonal antibody (mAb) CC49, a murine IgG1, reacts with the tumor-associated glycoprotein-72 expressed on a variety of carcinomas. In clinical trials, radiolabeled CC49 has shown excellent tumor localization to a variety of carcinomas. To minimize the immunogenicity of CC49 mAb in patients, a humanized CC49 (HuCC49) was generated by complementarity-determining region (CDR) grafting. The relative affinity of HuCC49 was 2-3-fold less than that of the murine mAb. With the aim of improving tumor targeting, attempts have been made to enhance the avidity of the HuCC49 mAb. Previous research has yielded a single gene-encoded immunoglobulin, SCIgcCC49deltaCH1, which is a dimer of a single chain consisting of CC49 single-chain Fv linked to the NH2 terminus of the human gamma1 Fc through the hinge region. This molecule is comparable to the mouse-human chimeric CC49 in terms of in vitro antigen binding properties, cytolytic activity, and rate of plasma clearance in athymic mice bearing human tumor xenografts. Recently, a single gene encoding a single-chain immunoglobulin consisting of a HuCC49 diabody attached to human gamma1 Fc via the hinge region was constructed. The diabody, a bivalent antigen-binding structure, is made up of variable heavy (V(H))/variable light (V(L)) domains and V(L)/V(H) domains. In each of the variable domain pairs, the V(H) and V(L) domains are linked through a short linker peptide. Meanwhile, the two pairs are linked via a 30-residue Gly-Ser linker peptide to yield two antigen-binding sites by lateral and noncovalent association of the V(L) of one pair with the V(H) of the other. Transfectomas expressing the single-gene immunoglobulin secrete a homodimer of about Mr 160,000 that reacts to tumor-associated glycoprotein-72. This tetravalent humanized antitumor immunoglobulin molecule may potentially be an efficacious therapeutic and diagnostic reagent against a wide range of human carcinomas.

Orthostatic hypotension: a commonly unrecognized cause of symptoms in mitral valve prolapse.

To test the hypothesis that orthostatic hypotension could represent an alternative mechanism contributing to the symptoms of mitral valve prolapse, the systolic and diastolic arterial blood pressures were measured in the supine and standing positions in 86 patients with the diagnosis confirmed by echocardiography. Orthostatic hypotension was demonstrated in 12 patients. Ten of them presented with a history of recurrent lightheadedness, dizziness or syncope and constitute 59 percent of the total number of patients with such symptoms in this series. Although nine of these 10 patients reported transient lightheadedness or dizziness during periods of ambulatory electrocardiographic recording, in only one were the symptoms chronologically related to cardiac arrhythmias. On the other hand, eight of them described lightheadedness and two experienced near-syncope during the postural test in association with the orthostatic drop in blood pressure. Improvement in symptoms and correction of the orthostatic hypotension were demonstrated in seven patients after beta-adrenergic blockade with propranolol. Before therapy, the mean systolic blood pressure dropped from 114 +/- 3 mm Hg in the supine position to 78 +/- 1 mm Hg upon standing (p less than 0.001). In repeated postural tests performed after four weeks of treatment, the systolic blood pressure changed from 120 +/- 3 mm Hg supine to 115 +/- 1 mm Hg upon standing (p greater than 0.01). We conclude that orthostatic hypotension is a commonly unrecognized mechanism responsible for some of the symptoms of mitral valve prolapse, particularly in patients affected by recurrent lightheadedness, dizziness or syncope.

Echocardiographic characterization of the reversible cardiomyopathy of hypothyroidism.

Nineteen patients with untreated hypothyroidism were evaluated by M-mode echocardiography. Asymmetric septal hypertrophy (ASH), defined as a ratio of interventricular septal thickness to left ventricular posterior wall thickness (IVS/LVPW) equal to or greater than 1.3, was identified in 17 cases. Additional abnormalities recognized by echocardiography included reduced amplitude of systolic septal excursion (SSex) [13 patients], reduced per cent of systolic septal thickening (%SST)[19 patients], reduced left ventricular outflow tract dimension (LVOT)[five patients] and systolic anterior motion of the mitral valve (SAM)[five patients]. These findings are similar to some of the echocardiographic features of idiopathic hypertrophic subaortic stenosis (IHSS). In 10 patients who returned to euthyroid state with L-thyroxine therapy, these abnormalities resolved. We conclude that long-standing hypothyroidism leads to a reversible cardiomyopathy, manifested by asymmetric septal hypertrophy with or without other echocardiographic features of a hypertrophic obstructive cardiomyopathy. This previously unrecognized features of hypothyroidism has important diagnostic and therapeutic implications.

Effects of coronary artery bypass surgery on hemodynamic parameters and derived indices of myocardial function.

Pre- and postoperative hemodynamic indices were compared in 116 patients subjected to aorto-coronary bypass after an average interval of 128 days. The patients were separated into three different groups according to graft status: Group 1 (n = 77), all grafts patent; Group 2 (n = 27), one occluded graft out of two or three implanted; Group 3 (n = 12), all grafts occluded. There were no significant major changes of values so obtained in the three groups. Those subjects with initially depressed cardiac indices or elevated left ventricular end-diastolic pressures manifested a significant trend toward improvement when at least one bypass graft was patent. A reduction of cardiac index was noted in patients with occluded left anterior descending coronary grafts only in association with closure of other grafts. Deterioration of cardiac index or left ventricular end-diastolic pressure into the abnormal range was unusual in the study group, even when all grafts were occluded. It is concluded that data relating to the influence of aorto-coronary bypass on standard indices of left ventricular function can be properly interpreted only when certain subsets of patients are studied.

Correction of esophageal atresia with distal tracheoesophageal fistula.

Correction of the full spectrum of esophageal atresia with tracheoesophageal fistula (TEF) remains controversial. Circular myotomy and other lengthening procedures have shown promise to reduce tension when a relatively wide gap exists between esophageal segments; nevertheless a relatively high complication rate persists. We believe anastomotic tension is commonly found with repair of this anomaly. Therefore, the construction of the anastomosis will be a primary determinant of success. Twenty-four infants with TEF were admitted, 12 (50%) weighing 2.5 kg, nine (37%) 1.8 to 2.5 kg, and three (13%) 1.8 kg. All underwent gastrostomy and end-to-end single-layer anastomosis. Gaps of up to 4.5 cm were encountered, and in one case a cervical incision was necessary for mobilization of the upper pouch. For eight patients (33%) the gap was at least 2.5 cm and significant anastomotic tension was generated. For the series, there were no anastomotic leaks (all confirmed by barium swallow), reoperations, or surgical complications (there were two late, unrelated deaths). Prophylactic dilation was routinely performed 6 weeks and 3 months postoperatively. Subsequently, seven of the 24 (29%) required additional (one to five) dilatations but are now asymptomatic at least 2 years later. Follow-up for the entire series is 5 months to 5 years. Three infants (13%) required fundoplication for reflux without stricture and two infants (8%) an aortopexy. For successful esophageal anastomosis we consider the following technical points important: (1) no-touch technique to minimize tissue damage, (2) generous (5 to 7 mm) full-thickness suture depth, (3) fine (6/0) monofilament suture to reduce tissue reactivity, and (4) in cases of significant tension, the sutures are preplaced and used to provide traction to eliminate tension during tying. Tension is often unavoidable in TEF, yet a carefully constructed anastomosis will withstand this stress. This approach provides results at least as satisfactory as the reported experience with a variety of techniques.

Speciation of cone snails and interspecific hyperdivergence of their venom peptides. Potential evolutionary significance of introns.

All 500 species of cone snails (Conus) are venomous predators. From a biochemical/genetic perspective, differences among Conus species may be based on the 50-200 different peptides in the venom of each species. Venom is used for prey capture as well as for interactions with predators and competitors. The venom of every species has its own distinct complement of peptides. Some of the interspecific divergence observed in venom peptides can be explained by differential expression of venom peptide superfamilies in different species and of peptide superfamily branching in various Conus lineages into pharmacologic groups with different targeting specificity. However, the striking interspecific divergence of peptide sequences is the dominant factor in the differences observed between venoms. The small venom peptides (typically 10-35 amino acids in length) are processed from larger prepropeptide precursors (ca. 100 amino acids). If interspecific comparisons are made between homologous prepropeptides, the three different regions of a Conus peptide precursor (signal sequence, pro-region, mature peptide) are found to have diverged at remarkably different rates. Analysis of synonymous and nonsynonymous substitution rates for the different segments of a prepropeptide suggests that mutation frequency varies by over an order of magnitude across the segments, with the mature toxin region undergoing the highest rate. The three sections of the prepropeptide which exhibit apparently different mutation rates are separated by introns. This striking segment-specific rate of divergence of Conus prepropeptides suggests a role for introns in evolution: exons separated by introns have the potential to evolve very different mutation rates. Plausible mechanisms that could underlie differing mutational frequency in the different exons of a gene are discussed.

Does mRNA translation starting from an alternative initiation site contribute to the pathology of Huntington's disease?

Huntington's disease is associated with an expanded and unstable trinucleotide repeat (CAG)(n). Various possibilities have been suggested to explain the significance of poly-(CAG) length in HD, including changes in the structure of the product (huntingtin) which result in the protein acquiring deleterious properties. We have looked at the nucleotide sequence coding for huntingtin and find that another possibility may exist for the correlation between the occurrence of HD and poly-CAG length. We have noted an alternative reading frame that includes the trinucleotide repeat, now read as (GCA)(n). Upon close examination of this alternative gene product, we observe features that suggest it can likewise have deleterious properties.

Fibrodysplasia ossificans progressiva: case report.

Fibrodysplasia ossificans progressiva is a rare genetic disease characterized by widespread soft tissue ossification and congenital stigmata of the extremities. We report on a male child followed for ten years since the age of 3 years and 9 months, when the diagnosis was made. He was born with bilateral hypoplasic hallux valgus and ventricular septal defect, corrected by trans-sternal approach when 32 months old. Restriction of neck mobility followed and foci of ectopic ossification appeared. Four crises of disease exacerbation were treated with oral prednisone and/or other antiinflammatory drugs. Sodium etidronate 5 to 10 mg/kg/day was prescribed intermittently during about six years but was discontinued due to osteopenia. The disease course has been relentless, with severe movement restriction including the chest wall. A review showed few similar case reports in the Brazilian literature. We revisit the criteria for diagnosis and the essentials of management and treatment.