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.

Triiodothyronine and breast cancer

The thyroid hormones (THs), triiodothyronine (T3) and thyroxine (T4), are essential for survival; they are involved in the processes of development, growth, and metabolism. In addition to hyperthyroidism or hypothyroidism, THs are involved in other diseases. The role of THs in the development and differentiation of mammary epithelium is well established; however, their specific role in the pathogenesis of breast cancer (BC) is controversial. Steroid hormones affect many human cancers and the abnormal responsiveness of the mammary epithelial cells to estradiol (E2) in particular is known to be an important cause for the development and progression of BC. The proliferative effect of T3 has been demonstrated in various types of cancer. In BC cell lines, T3 may foster the conditions for tumor proliferation and increase the effect of cell proliferation by E2; thus, T3 may play a role in the development and progression of BC. Studies show that T3 has effects similar to E2 in BC cell lines. Despite controversy regarding the relationship between thyroid disturbances and the incidence of BC, studies show that thyroid status may influence the development of tumor, proliferation and metastasis.

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.

Hemofilia A em cão: relato de caso

Hemophilia A is an X-linked inherited disorder characterized by a Factor VIII (FVIII) deficiency, being therefore transmitted by female dogs to their offspring. Since it is a secondary hemostatic defect, the main clinical signs are hematomas and deep hemorrhage in body cavities, muscles and joints. A four-month-old male Boxer was presented to the Veterinary Hospital at the School of Veterinary Medicine and Animal Science in Botucatu with excessive bleeding due to an incision made three days prior by another veterinarian to drain a local hematoma. Laboratory results showed platelet count within the reference range, as well as prolonged whole blood clotting and activated partial thromboplastin times. FVIII activity was 0,96%, which characterizes the most severe degree of hemophilia A.

Hipotireoidismo em cães: revisão

Hypothyroidism is one of the most frequent endocrinopathies in dogs, affecting preferentially middle-aged, pure breed animals. Associated clinical signs are variable and often non-specific, including metabolic, dermatological or cardiovascular alterations. The main laboratorial findings are non-regenerative anemia and hypercholesterolemia. Hyponatremia and an increase in alanine transferase and alkaline phosphatase activities can also be observed with lower frequency. There are specific diagnostic tests that can be used to help diagnose hypothyroidism, and those should be interpreted in the light of the animal´s clinical symptoms. The levels of thyroxine stimulating hormone (TSH) and both free and total thyroxine (T4) are the most used hormonal tests. It is important to differentiate between hypothyroidism and the euthyroid sick syndrome, a condition that may be caused by severe diseases such as hyperadrenocorticism and lead to decreased TSH and T4 levels as well. Levothyroxine sodium is the standard treatment. The main objective of this paper is to review hypothyroidism in dogs, since this is a very common disease in small animal clinics, but with difficult diagnosis.

Contato com gatos: um fator de risco para a toxoplasmose congênita?

Toxoplasmosis is an important zoonosis and one of the most common parasitic infections throughout the world, which may cause among other problems several fetal pathologic alterations. Congenital toxoplasmosis is a result of transplacental transmission of Toxoplasma gondii due to a prime infection of the mother during pregnancy. Several studies have determined that the main risk factor for infection in pregnant women is the consumption of uncooked meat, which contributed from 30 to 63% of cases; other 6% to 17% of infections were related to contaminated soil. The relationship between pregnant women and their cats constitutes nothing more than a healthy experience when main transmission mechanisms and risk factors related to the disease are known.