6-Dimethylaminopurine and cyclohexamide are mutagenic and alter reproductive performance and intrauterine development in vivo

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Acheiropodia: report on four new Brazilian patients

We report on 4 new patients with acheiropodia (the handless and footless families of Brazil). This autosomal recessive condition involves all 4 limbs with a well-defined pattern of defects. Two of the patients described here had a small bone fragment in the upper stumps (Bohomoletz bone), an uncommon finding in acheiropodia.

Cherubism: clinicoradiographic features and treatment

Cherubism is a congenital childhood disease of autosomal dominant inheritance. This disease is characterized by painless bilateral enlargement of the jaws, in which bone is replaced with fibrous tissue. The condition has sui generis clinical, radiographic and histological features, of which the clinician should be aware for a better differential diagnosis in the presence of a fibro-osseous lesion affecting the bones of the maxillomandibular complex. The purpose of present paper was to review the literature and to report the most important aspects of cherubism in order to facilitate the study of this disease. Literature was reviewed about cherubism, emphasizing the relevant clinicoradiographic features and treatment. Literature was selected through a search of PubMed and Scielo electronic databases. The keywords used for search were adolescent, cherubism, cherubism/physiopathology, cherubism/treatment, cherubism/radiography. A manual search of the reference lists of the identified articles and the authors' article files and recent reviews was conducted to identify additional publications. Those studies that described new features about cherubism were included in this review. In total 44 literature sources were obtained and reviewed. Studies that described new features about cherubism physiopathology, diagnostics and treatment were reviewed. Despite the exceptions, cherubism is a clinically well-characterized disease. In cases of a suspicion of cherubism, radiographic examination is essential since the clinical presentation, the location and distribution of the lesions may define the diagnosis. Histopathological examination is complementary. Nowadays, genetic tests should be used for final diagnosis of cherubism.

Autism spectrum disorder in a girl with a de novo x;19 balanced translocation

Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders or congenital abnormalities, and/or developmental delay. We investigated a patient with a de novo X;19 translocation. The six-year-old girl has been evaluated due to hyperactivity, social interaction impairment, stereotypic and repetitive use of language with echolalia, failure to follow parents/caretakers orders, inconsolable outbursts, and persistent preoccupation with parts of objects. The girl has normal cognitive function. Her measurements are within normal range, and no other abnormalities were found during physical, neurological, or dysmorphological examinations. Conventional cytogenetic analysis showed a de novo balanced translocation, with the karyotype 46,X,t(X;19)(p21.2;q13.4). Replication banding showed a clear preference for inactivation of the normal X chromosome. The translocation was confirmed by FISH and Spectral Karyotyping (SKY). Although abnormal phenotypes associated with de novo balanced chromosomal rearrangements may be the result of disruption of a gene at one of the breakpoints, submicroscopic deletion or duplication, or a position effect, X; autosomal translocations are associated with additional unique risk factors including X-linked disorders, functional autosomal monosomy, or functional X chromosome disomy resulting from the complex X-inactivation process.

Avaliação ultrassonográfica de crianças com hipotireoidismo congênito

To establish benchmarks and study some sonographic characteristics of the thyroid gland in a group of euthyroid children aged up to 5 years as compared with age-matched children with congenital hypothyroidism. Thirty-six children (17 female and 19 male) aged between 2 months and 5 years were divided into two groups - 23 euthyroid children and 13 children with congenital hypothyroidism - and were called to undergo ultrasonography. In the group of euthyroid children (n = 23), mean total volume of the thyroid gland was 1.12 mL (minimum, 0.39 mL; maximum, 2.72 mL); a homogeneous gland was found in 17 children (73.91%) and 6 children (26.08%) had a heterogeneous gland. In the group of children with congenital hypothyroidism (n = 13), mean total volume of the thyroid gland was 2.73 mL (minimum, 0.20 mL; maximum, 11.00 mL). As regards thyroid location, 3 patients (23.07%) had ectopic thyroid, and 10 (69.23%) had topic thyroid, and out of the latter, 5 had a homogeneous gland (50%) and 5, a heterogeneous gland (50%). In the group with congenital hypothyroidism, 6 (46.15%) children had etiological diagnosis of dyshormoniogenesis, 3 (23.07%), of ectopic thyroid, and 4 (30.76%), of thyroid hypoplasia. Thyroid ultrasonography is a noninvasive imaging method, widely available, easy to perform and for these reasons could, and should, be performed at any time, including at birth, with no preparation or treatment discontinuation, to aid in the early etiological definition of congenital hypothyroidism.

Importância das alterações cromossômicas na etiologia da infertilidade

Pós-graduação em Pesquisa e Desenvolvimento (Biotecnologia Médica) - FMB

Taxa de crescimento axial pós-operatório de olhos com catarata congênita e do desenvolvimento submetidos a facectomia com implante de lente intra-ocular

Pós-graduação em Pesquisa e Desenvolvimento (Biotecnologia Médica) - FMB

Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters

Two daughters of a nonconsanguineous couple are described. Both present mental retardation, epileptic seizures, congenital atrichia, histologically anomalous skin and abnormal EEG pattern. From a discussion of the literature on atrichia, the forms without involvement of teeth, nails and hidrosis, among which recessive inheritance prevails, are distinguished from each other. None of them coincide with the syndrome described here.

Relevant aspects of human toxoplasmosis

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

Uso de implantes zigomáticos na fixação de próteses bucomaxilofaciais

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.

Prótese parcial removível obturadora: uma reabilitação oral que devolve o bem estar físico e mental

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.

Transmissão congênita em cabras reinfectadas com Toxoplasma gondii

This study evaluated the potential of congenital transmission in goats experimentally infected and reinfected with Toxoplasma gondii, in three gestational stages (initial, intermediate and final). Of the 25 non-pregnant females negative for T. gondii, 20 were orally inoculated with 2.5 x 103 T. gondii ME49 oocysts. Of these, 15 pregnant females chronically infected were reinoculated, via oral, with 2.5 x 103 T. gondii VEG oocysts. Five experimental groups were formed (n=5): I, II and III (reinoculations in the initial, intermediate and final gestational stage, respectively), IV (inoculation) and V (no inoculation). Clinical and serological exams (IgG IFAT [indirect immunofluorescence antibody test]) in different days of evaluation, and bioassay and PCR were performed in all goats. In the infected goats with T. gondii a peak of 40.2°C (IV) at nine, seroconversion (IgG≥64) at 21 and stabilization (IgG<1024) at 119 days postinoculation were observed. In the reinfected goats with T. gondii occurred an increase in IgG titers (≥1,024) at 28 (I), 7 (II) and 3 (III) days post-reinoculation. During kidding were observed only in the reinfected groups: dystocia, malformation body, stillbirth and weakness, and IgG anti-Toxoplasma were detected in all and in some offsprings of the reinfected and infected goats, respectively. Tissue parasitism by T. gondii was diagnosed by bioassay and PCR in infected and reinfected goats and in their offspring. The congenital toxoplasmosis was possible in goats chronically infected and reinfected with T. gondii. The primary infection with T. gondii did not protect the pregnant goats against congenital disease resulting from toxoplasmic reinfection, in different gestational stages (initial, intermediate and final).

Impact of chagas disease in human evolution:the challenges continue

Chagas disease affects 8 to 10 million people worldwide and, although most of them live in Latin America, there has been an increase in cases occurring in countries of Europe and North America although most of them live in Latin America. This study aims to describe the epidemiological situation in the present as well as government and research centers actions, particularly the study group of Chagas disease of the School of Medicine of Botucatu (FMB/UNESP)/Brazil.

A sífilis na gestação e sua influência na morbimortalidade materno-infantil

Syphilis in pregnancy is a public health problem, responsible for the high intrauterine mortality rates. This article aims to present a review of historical and epidemiological aspects, clinical manifestations, diagnosis, the treatment of maternal and congenital syphilis, and its perinatal repercussions. The manuscript also describes the Brazilian main policies in public health care for pregnant women with syphilis and for congenital syphilis eradication. The set of words used were “congenital syphilis”, “syphilis in pregnancy” and “syphilis prenatal care”. The databases searched were PubMed (National Library of Medicine - USA), SciELO (Scientific Electronic Library Online), LILACS (Latin American and Caribbean Health Sciences), PAHO (Pan American Health Organization), IBECS, and WHOLIS Cochrane Library, from 1980 to 2011. Fifty-six articles were included in this review, 18 institutional technical manuals, two textbooks and 36 articles relating to maternal and congenital syphilis. The present review showed that there is a gap between intention and action needed to control and eradicate the disease especially with regard to the expansion of access, not only in relation to the number of visits recommended male gender, it is important to assess the quality of their content as well as the actions to be carried out between appointments.

O seguimento da sífilis congênita em crianças tratadas ao nascer

Purpose: Describe the initial clinical management and therapeutic monitoring dispensed for newborns diagnosed with congenital syphilis at birth and as of the high public hospitals in the Federal District, Brazil. Methods: Collected informations from the initial clinical management and continuity of care accorded to 81 newborns diagnosed with congenital syphilis reported to the National System of Diseases of Notification in 2008. Results: The hemogram occurred in 46.9%, and radiological long bone in 81.4%. Four children (4.9%) followed up according to the protocol of the Ministry of Health in relation to bi-monthly follow- -up until 12 months of age was 93.8% of cases ignored and found no record of complete follow-up at 18 months old of age. Conclusions: The initial clinical management and therapeutic follow-up of newborns with congenital syphilis in the Federal District is not carried out adequately and does not accordance with the guidelines set by the Ministry of Health.