52 resultados para Craniofacial anomalies


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Three species of Scorpions beloging to two different families were studied cytologically: a) Tityus mattogrossensis Borelli (Fam. Buthidae), - This species presents spermatogonia provided with 20 short chromosomes which orient at metaphase with their axis parallelly to the plane of the equator and move toward the poles without changing this position, from the stage pachytene to metaphase the bivalents become, as in Tityus bahiensis, progressivery shorter and thicker, without showing that chiasmata occured at any time. The paired chromosomes never open themselves, out to form loops as in orthodox meioses. As in Tityus bahiensis the bivalents are inserted In the spindle before reaching their maxim contraction. No diakinesis has been observed. The primary spermatocyte metaphases are provided, with 10 pairs of chromosones, two of which are larger and two smaller than the rest. The bivalents orient as in Tityus bahiensis with their length in the plane of the equator and separate parallelly. Spindle fibres are seen alongst their entire body. While, in Tityus bahiensis the ends of the chromosomes are pronouncedly turned to opposite poles at metaphase, nothing like this was observed in the present species. Only late in anaphase the chromosomes of Tityus mattogrossensis show a bending to the poles. The secondary spermatocytes present 10 short chromosomes, two being larger than, the others. Here, on the contrary, the chromosomes are strongly curved toward the poles since the beginning of anaphase. Some chromosomal anomalies have been noticed. Primary spermatocytes with 14 bivalents, some of which representing probably free fragments, were observed. Primary spermatocytes with 8 bivalents and one cross of 4 chromosomes were interpreted as resulting from breakages followed by translocations Primary spermatocytes with 9 bivalents, one of which being much longer than the longst of the normal plates, show that fusion by the extremities of two non homologous chromosomes on the onde side, and of their respective homologous in the same way on tre other, have occured. Orientation of bivalents with their body parallelly to the spindle axis and anaphasic bridges have been encountered. All in all points to the conclusion that the chromosomes of Tityus mattogrossesis, like those of Tityus bahiensia are provided with one kinetochore at each end. Ananteris balzani Thorell - (Fam. Buthidae). - This species which belongs to the same family as Tityus, is provided with 12 chromosomes (diploid). These studied in embryonic tissues, showed the same behavior as the somatic chromosomes of Tityus bahiensis. Bothrirus sp. (Bothriuridae). - Only spermatogonia were found in the testis, of the single male hitherto investigated. The chromosomes, in number of 36, are of different sizes but small and provided, as ordinarily, with a single kinetochore. They behave therefore in an orthodox manner in mitosis.

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Having had the opportunity of studying a male of the species Isometrus maculatus De Qeer (Scorplones, Buthidae) the author was able to observe one of the most interesting anomalies hitherto met with in his investigations on Scorpions. This anomaly consisted in the formation by the primary spermatocyte metaphase chromosomes of a complex group of eight elements, and two independent pairs. As it is clear, the octovalent group resulted from tranlocations involving the members of four chromosome pairs. Since aside the compound group two independent bivalents were always present, 12 was estabilished as representing the diploid chromosome number of the individual, what was soon confirmed by the counts in the spermatogonia. This peculiar behavior of the chromosomes of the primary spermatocytes represents the habitual condition in the studied individual, since it was found everywhere in the whole testis. Better than any description, the figures in this, paper show what was observed. Notwithstanding the complications which may occur at anaphase, separation of the chromosomes goes normally, each pole receiving four chromosomes from the group and two from the free bivalents. Secondary spermatocytes are thus provided with six monovalents. Though not found, we may believe in the existence of secondary spermatocytes with more or lesse than six chromosomes, because it seems highly probable that lhe chromosomes of the complex may now and then passe to the wrong pole 'n consequence of an incorrect orientation. Bridge vestiges suggest that chromosomes may sometimes break. The spermatogonia have 12 short chromosomes, which bend to the poles at anaphase. The chromosomes of the present species approach, in shape and behavior, those of Tityus mattogrossensis.

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Two rare anomalies of the face are presented, cheiloschisis inferior (a white brazilian boy, two years old) and cheilognatoschisis inferior (a colored Brazilian boy, two years old).

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Reproductive anomalies associated with the tsetse DNA virus infection in the female tsetse hosts, Glossina morsitans centralis Machado and Glossina morsitans morsitans Westwood, inoculated with the virus during the 3rd instar larval stage were studied and the data compared to those obtained from the control females injected with sterile physiological saline. Virus infected flies had significantly longer first and second pregnancy cycles (P<0.0001) and produced pupae that were of significantly less weight in milligrams (P<0.0001) compared to controls. Transmission of the virus to progeny was not absolute and only 21% of G. m. centralis and 48% of G. m. morsitans first progeny flies from infected females developed salivary gland hypertrophy as a result of transmission from mother to progeny. The virus infected females produced significantly fewere pupae compared to the controls during the experimental period (P<0.00001).

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Aedes albopictus larvae were exposed, either individually or in groups, to different concentrations of xiphidiocercariae of Haematoloechus sp. for parasitological studies. It was observed the acute lethal effect and some aspects of the host-parasite relationship, such as delay or progress in the host life cycle, the number and location of the metacercariae in the host, adult host malformations and the amount of metacercariae required to cause death. A delay in the cycle and a high mortality rate was in general observed. Inside the larvae, the metacercariae were found predominantly in the thorax, abdominal segments and in the head, along with a reduced number in the anal lobe and cervix. It was shown that in addition to the quantity of metacercariae present, their location in the larvae was also relevant in the determination of mortality and anomalies. Malformed adults developed from larvae containing from one to three metacercariae.

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Schistosoma mansoni adult worms with genital anomalies isolated from Nectomys squamipes (Muridae: Sigmodontinae) were studied by confocal laser scanning microscopy under the reflected mode. One male without testicular lobes (testicular agenesia/anorchism) and two females, one with an atrophied ovary and another with 17 uterine eggs, were identified. The absence of testicular lobes occurred in a worm presenting otherwise normal male adult characteristics: tegument, tubercles and a gynaecophoric canal with spines. In both female specimens the digestive tube showed a vacuolated appearance, and the specimen with supernumerary uterine eggs exhibited a developing miracidium and an egg with a formed shell. The area of the ventral sucker was similar in both specimens however the tegument thickness, ovary and vitelline glands of the specimen with the atrophied ovary were smaller than those of the one with supernumerary eggs. These reported anomalies in the reproductive system call attention to the need to improve our understanding of genetic regulation and the possible role of environmental influences upon trematode development.

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OBJETIVO: Utilizar a cintilografia óssea facial para identificar o crescimento esquelético mandibular, através do metabolismo ósseo condilar de indivíduos com crescimento craniofacial equilibrado, e compará-lo à atividade condilar daqueles com crescimento mandibular excessivo. MATERIAIS E MÉTODOS: Quarenta e sete indivíduos, de ambos os sexos, entre 18 e 28 anos de idade, foram divididos em grupo controle - classe I (n = 13) - e grupo caso - classe III (n = 34). As imagens foram obtidas duas horas após injeção intravenosa de 200 µCi/kg de 99mTc-MDP. Foram realizadas incidências laterais do crânio e posterior da coluna lombar e a taxa de contagem foi determinada pela obtenção da média de contagem dos côndilos e da quarta vértebra lombar utilizando 300.000 contagens. RESULTADOS: Não foram encontradas captações condilares assimétricas em ambos os grupos, e apesar da ausência de significância estatística, os valores médios de captação condilar foram maiores no grupo caso. CONCLUSÃO: A média de captação aumentada indicou maior metabolismo ósseo condilar nos indivíduos classe III, sugerindo um provável crescimento mandibular residual. Mais estudos estão sendo realizados para aumentar esta amostragem.

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OBJETIVO: Identificar a prevalência de malformações congênitas do sistema nervoso central (SNC) e malformações associadas diagnosticadas pela ultrassonografia obstétrica. MATERIAIS E MÉTODOS: Estudo observacional, transversal, descritivo, em instituição de referência para gestações de alto risco. RESULTADOS: Malformações congênitas do SNC estiveram presentes sem outras malformações associadas em 65,78%, com a distribuição: hidrocefalia (37,5%), mielomeningocele (15%), encefalocele (12,5%), agenesia de corpo caloso (12,5%), anencefalia (12,5%), holoprosencefalia (7,5%), Dandy-Walker (7,5%), Arnold-Chiari (5,0%), hidranencefalia (5,0%), meningocele (5,0%), cisto aracnoideo (2,5%). Malformações congênitas de outros sistemas estiveram associadas às do SNC: craniofacial (73,9%), ortopédica (65,2%), cardiovascular (34,8%), geniturinária (30,4%), gastrintestinal (30,4%), respiratória (8,7%), sindrômica (8,7), oftalmológica (4,3%). A sensibilidade ultrassonográfica no estudo de malformações fetais do SNC foi 79,4%. A taxa de falso-negativos foi 20,5%. Dentre as limitações quantificáveis destaca-se o oligodrâmnio, presente em 25% dos falso-negativos. CONCLUSÃO: A ultrassonografia obstétrica possui boa sensibilidade no rastreio de malformações fetais do SNC, em especial com o aperfeiçoamento constante e domínio na utilização de métodos especializados, como o Doppler e a ultrassonografia volumétrica (3D/4D), contribuindo para firmar-se como modalidade de escolha nesta rotina. Complementar ao método, a ressonância magnética pode vir a fornecer subsídios para uma ainda melhor assistência perinatal.

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The present report describes the findings at chest computed tomography angiography of a 28-year-old female patient with heterotaxy syndrome. This syndrome consists of a variety of anomalies of position and morphology of thoracoabdominal organs which do not follow the situs solitus or situs inversus arrangement. Imaging studies play a fundamental role in the individualization of the approach to the patient.

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High lead concentrations up to 5478 mg kg-1 were detected in dry atmospheric precipitations in Rio Grande city and adjacent area. Lead anomalies cover up to 30% of the study area. Lead concentration measurement in dry atmospheric precipitation and suspended particulate matter provides a possibility to detect concentrations above lead threshold in the air. The most impacted areas are fishermen's villages. The most possible source of lead in the air is uncontrolled sub industrial activity of local population

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There is an increasing interest in micropollutants in the environment that can interfere with the endocrine system, affecting health, growth and reproduction of animals and humans. These substances are known as Endocrine Disrupting Chemicals (EDCs) and can be found in domestic sewage, domestic wastewater treatment plant effluents, and in natural and potable waters. There are numerous chemicals classified as EDCs, such as pesticides, chemicals used and produced by chemical industries and natural and synthetic estrogens. EDCs can be related to the increase of the incidence of anomalies in the reproductive system of animals, cancer in humans and reduction of the masculine fertility.

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Nickel and vanadium were tested as tracers of oil refinery emission distribution in populated area of Rio Grande-RS. The anomalies of these elements in surface soil are considered a long-term reflection of the emissions in low atmosphere. The spatial distribution of Ni and V in the soil corresponded to the pattern of local winds. The threshold of 1.5 backgrounds of these metals markedly outlined the area of petrochemical emissions. Anomalies of Ni and V in surface soil have a rather different configuration in comparison with other metal tracers of urban impact: Cd, Cu, Pb and Zn.

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The Steady-State Free Precession (SSFP) sequence has been widely used in low-field and low-resolution imaging NMR experiments to increase the signal-to-noise ratio (s/n) of the signals. Here, we analyzed the Scrambled Steady State - SSS and Unscrambled Steady State - USS sequences to suppress phase anomalies and sidebands of the 13C NMR spectrum acquired in the SSFP regime. The results showed that the application of the USS sequence allowed a uniform distribution of the time interval between pulses (Tp), in the established time range, allowing a greater suppression of phase anomalies and sidebands, when compared with the SSS sequence.