527 resultados para Malformations congénitales majeures


Relevância:

10.00% 10.00%

Publicador:

Resumo:

The maxillofacial prosthetic rehabilitation aims of individuals with craniofacial deformities resulting from trauma, congenital malformations or tumors. Many researches have been done to improve the stability and retention of dentures in patients. With the advent of osseointegration, the maxillofacial prosthesis suffered a major advance making possible the realization of prosthetic works with stability, aesthetic quality and predictable results. This paper reviews the literature regarding the use of zygomatic implants in the fixation of maxillofacial prostheses.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Maxillofacial deformities may cause awkward and embarrassing bearer. These patients present serious psychological, family and social issues becoming traumatized and complexed. These deformities can have congenital origin, malformations and developmental disorders, or can be caused by pathological mutilation such as necrotizing diseases and surgical oncology, or traumas such as traffic and work accidents.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

The Cornélia of Lange´s syndrome is a genetic anomaly, described and published by Cornelia Catharina of Lange in 1933, however, their aspects were described previously by Winfried Robert Clemens Brechmann in 1916, that’s why it is also known as Brachmann of Lange’s syndrome. The most frequent clinical characteristics include typical face dismorfia, variable degree of mental delay, anomalies of the hands and feet, multiple malformations, retardation of the pre and postnatal physical development and microcephaly variable intellectual compromising. Some facial characteristics are peculiar and they are mixed with the inherited lines of their own family, the united brows, the long lashes, the small nose, the round face, the fine lips and lightly inverted. As oral manifestations they present micrognathia, dental crowding, periodontal disease, delayed dental eruption, enamel hypoplasia, erosion of the enamel and dentine caused by stomach acids of the gastroesophageal reflux and atresia of the dental arches. The purpose of this paper is to present a clinical report of a boy bearer of this syndrome assisted at CAOE - FOA - UNESP, emphasizing the importance of multiprofessional team for the diagnosis and treatment of this syndrome.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Dicephalus dipus dibrachius twins are a rare form of conjoined twins. An autopsy of conjoined dicephalus twins is reported. The diagnosis was performed during the pregnancy and the family received a judicial authorization for termination of pregnancy. The preterm newborn progressed to cardiac arrest and died following a court order to terminate the pregnancy. The conceptus presented two arms, two legs, a trunk, two heads, and a single umbilical cord. The two spinal columns presented vertebral fusion in the sacral region. The heart exhibited complex malformations. The external genitalia were female; and cytogenetic analysis confirmed female sex (46, XX). This analysis also corroborated the etiopathogenic hypotheses described for this abnormality, which proposes failures in embryonic formation rather than specific chromosomal alterations. Current identification of cases by ultrasound permits medical management and multidisciplinary action with the family, enabling the legal termination of pregnancy.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) is a sporadically occurring, nonhereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. We hypothesized that CLOVES syndrome would be caused by a somatic mutation arising during early embryonic development. Therefore, we employed massively parallel sequencing to search for somatic mosaic mutations in fresh, frozen, or fixed archival tissue from six affected individuals. We identified mutations in PIK3CA in all six individuals, and mutant allele frequencies ranged from 3% to 30% in affected tissue from multiple embryonic lineages. Interestingly, these same mutations have been identified in cancer cells, in which they increase phosphoinositide-3-kinase activity. We conclude that CLOVES is caused by postzygotic activating mutations in PIK3CA. The application of similar sequencing strategies will probably identify additional genetic causes for sporadically occurring, nonheritable malformations.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Skeletal tissues of 49 humpback whales Megaptera novaeangliae that stranded between 2002 and 2011 along the Abrolhos Bank seashore and its adjacent waters in Brazil were studied. Twelve (24.5%) animals presented pathological changes in one or more bones. Degenerative changes and developmental malformations were most frequent (10.2% each), followed by inflammatory/infectious and traumatic lesions (8.2% each). Infectious diseases led to severe lesions of the caudal vertebrae of 2 whales. In one of these individuals, the lesions involved 6 caudal vertebrae, leading to ankylosis of 3 vertebrae. Degenerative changes were observed in the vertebral columns of 3 animals, involving the joints of 13 ribs of 1 individual, and in the humerus of 1 whale. Traumatic lesions, such as osseous callus in the ribs, were observed in 4 animals. In 1 whale, the rib showed severe osteomyelitis, possibly resulting from the infection of multiple fractures. Developmental abnormalities such as spina bifida on 3 cervical vertebrae of 1 whale, fusion of spinal processes on thoracic vertebrae of 1 individual and fusion of the first 2 ribs unilaterally or bilaterally in 4 animals were found. Chronic infectious conditions found in the axial skeleton may have restrained spinal mobility and had detrimental effects on the general health of the animals, contributing to stranding and death. To our knowledge, this is the first systematic study on skeletal lesions in stranded humpback whales.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Objective: To verify, in extremely preterm infants, if disagreement between obstetricians and neonatologists regarding proactive management is associated with early death. Study Design: Prospective cohort of 484 infants with 23(0/7) to 26(6/7) weeks, without malformations, born from January 2006 to December 2009 in eight Brazilian hospitals. Pro-active management was defined as indication of >= 1 dose of antenatal steroid or cesarean section (obstetrician) and resuscitation at birth according to the international guidelines (neonatologist). Main outcome was neonatal death in the first 24 h of life. Result: Obstetricians and neonatologists disagreed in 115 (24%) patients: only neonatologists were proactive in 107 of them. Disagreement between professionals increased 2.39 times the chance of death in the first day (95% confidence interval 1.40 to 4.09), adjusted for center and maternal/neonatal clinical conditions. Conclusion: In infants with 23 to 26 weeks of gestation, disagreement between obstetricians and neonatologists, translated as lack of antenatal steroids and/or vaginal delivery, despite resuscitation procedures, increases the odds of death in the first day. Journal of Perinatology (2012) 32, 913-919; doi:10.1038/jp.2012.28; published online 29 March 2012

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date. To define the etiology of MFDM, we employed whole-exome sequencing of four unrelated affected individuals and identified heterozygous mutations or deletions of EFTUD2 in all four. Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. A range of EPTUD2-mutation types, including null alleles and frameshifts, is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date. U5-116kD, the protein encoded by EFTUD2, is a highly conserved spliceosomal GTPase with a central regulatory role in catalytic splicing and post-splicing-complex disassembly. MFDM is the fast multiple-malformation syndrome attributed to a defect of the major spliceosome. Our findings significantly extend the range of reported spliceosomal phenotypes in humans and pave the way for further investigation in related conditions such as Treacher Collins syndrome.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Tentorial dural arteriovenous fistula (DAVF) is a rare vascular disease, which accounts for less than 4% of all cases of intracranial DAVF Because of the high risk of intracranial hemorrhage, patients with tentorial DAVF need aggressive treatment. Management approaches are still controversial, and endovascular treatment has emerged as an effective alternative. In the current work, we describe our experience with the endovascular approach in the treatment of these deep and complex DAVF of the tentorium. Eight patients were treated between January 2006 and July 2009. Six patients (75%) presented with intracranial hemorrhage related to the DAVF rupture. Four patients (50%) had subarachnoid bleeding and two had intraparenchymal hematoma. Endovascular treatment was performed via the transarterial route alone in five cases (62.5%), by the transvenous approach in two cases (25.0%) and in a combined procedure using both arterial and venous routes in one patient (12.5%). Complete obliteration of the fistula was achieved in all cases. The outcome at 15 months was favorable (modified Rankin scale 0-3) in seven (87.5%) patients. Complete cure of the lesion was confirmed in these cases. This paper reports on the effectiveness of endovascular treatment in tentorial DAVF management The choice of the venous versus the arterial approach is determined by regarding different anatomical dispositions.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

C left lip and palate is the most common among craniofacial malformations and causes several esthetic and functional implications that require rehabilitation. This paper aims to generally describe the several aspects related to this complex pathology and the treatment protocol used by the Hospital for Rehabilitation of Craniofacial Anomalies, University of So Paulo (HRAC-USP) along 40 years of experience in the treatment of individuals with cleft lip and palate.

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Object. The aim of this study was to describe the surgical anatomy of the mediobasal aspect of the temporal lobe and the supracerebellar transtentorial (SCTT) approach performed not with an opening, but with the resection of the tentorium, as an alternative route for the neurosurgical management of vascular and tumoral lesions arising from this region. Methods. Cadaveric specimens were used to illustrate the surgical anatomy of the mediobasal region of the temporal lobe. Demographic aspects, characteristics of lesions, clinical presentation, surgical results, follow-up findings, and outcomes were retrospectively reviewed for patients referred to receive the SCTT approach with tentorial resection. Results. Ten patients (83%) were female and 2 (17%) were male. Their ages ranged from 6 to 59 years (mean 34.5 +/- 15.8 years). All lesions (3 posterior cerebral artery aneurysms, 3 arteriovenous malformations, 3 cavernous malformations, and 3 tumors) were completely excluded or resected. After a mean follow-up period of 143 months (range 10-240 months), the mean postoperative Glasgow Outcome Scale score was 4.9. Conclusions. Knowledge of the surgical anatomy provides improvement for microsurgical approaches. The evolution from a small opening to a resection of the tentorium absolutely changed the exposure of the mediobasal aspect of the temporal lobe. The SCTT approach with tentorial resection is an excellent alternative route to the posterior part of mediobasal aspect of the temporal lobe, and it was enough to achieve the best neurosurgical management of tumoral and vascular lesions located in this area. (http://thejns.org/doi/abs/10.3171/2011.12.JNS111256)

Relevância:

10.00% 10.00%

Publicador:

Resumo:

Purpose: To evaluate the effects at term of a highly active antiretroviral drug association when administered for the whole period of rat pregnancy. Methods: Forty pregnant rats weighing about 200 g were randomly divided into four groups: a control group (Ctr = drug vehicle control, n = 10) and three experimental groups. which were treated with an oral solution of zidovudine-stavudine (Exp1x = 10/1 mg/kg b.w., n = 10; Exp3x = 30/3 mg/kg b.w., n = 10; Exp9x = 90/9 mg/kg b.w., n = 10) from "day 0" up to the 20th day of pregnancy. Maternal body weights were recorded at the start of the experiment and on the 7th, 14th and 20th day thereafter. At term (20th day) the rats were anesthetized and submitted to hysterotomy. Implantations, reabsorptions, living fetuses, placentae and intrauterine deaths were looked for and recorded. The collected fetuses and placentae were weighed and the concepts were examined by a stereoscopic microscope looking for external malformations. Results: No significant alterations due to the antiretroviral drug treatment could be detected regarding the number of implantations, fetuses, placentae, absorptions and malformations nor regarding maternal and fetal mortality. Conclusions: Administration of the association zidovudine/stavudine for the whole period of rat pregnancy did not interfere with the maternal, fetal and placental weight gain as well as abnormalities detectable by the employed methodology.