Sonographic and radiographic findings in congenital renal dysplasia in a female Lhasa apso

An 8-month-old Lhasa Apso female dog was referred to the Veterinary Hospital, FMVZ, Unesp, Botucatu Campus, with suspected congenital renal disorder. Ultrasound images revealed higher renal echogenicity, loss of corticomedullary demarcation and diverticular mineralization on the right kidney. The mucosal lining of the stomach was hyperechoic and radiographic examination demonstrated mineralization of wall and folds, which is consistent with uremic gastropathy.

Correlação entre aneuploidia cromossômica em espermatozóides e taxa de implantação embrionária: subtitulo

Infertility is directly related to chromosomal abnormalities in germ cells. Among them, the aneuploidies are the most frequent chromosomal abnormalities and responsible for embryo implantation failures, miscarriages, fetal losses and newborns with congenital malformations, mental disability and neuropsychomotor developmental delay. Male patients with normal somatic karyotype may present different rates of aneuploidies in sperm, resulting in abnormal embryos. This study aimed to correlate the frequency of chromosomal aneuploidies in spermatozoa with embryo implantation rate in couples undergoing assisted reproductive techniques. The methodology has included chromosomal analysis by GTG banding and molecular cytogenetic study using Fluorescent In Situ Hybridization technique for evaluation of chromosomes 9, X and Y in germ cells of 22 patients referred to the Human Reproduction Service of the Clinical Hospital FMRP-USP. Embryo implantation rates were determined by hormonal evaluation in maternal peripheral blood and ultrasound confirmation. Two patients presented abnormal karyotype, characterized by polymorphism of the heterochromatic region of the long arm of chromosome 9 and a satellite in the short arm of chromosome 22. Both alterations, usually considered variants of normality, have been related to infertility phenotype and miscarriages. Significant differences were detected between couples who presented pregnancy (group 1) and couples with embryo implantation failure (group 2), with higher frequency of aneusomy and diploidy of chromosome 9, as well as total aneuploidy in sperm of group 2 patients. Our results suggest a correlation between aneuploidy and embryo implantation rates, since the infertile group with reproductive failure has showed higher frequency of aneuploidy. Screening for aneuploidies detection in male germ cells should be included in order to decrease embryo implantation failures, miscarriages and fetuses with chromosomal ...

Assessment of structural cardiac abnormalities and diastolic function in women with gestational diabetes mellitus

Background: The main manifestation of hyperglycaemia during pregnancy is gestational diabetes mellitus. It can herald diabetes mellitus type 2 and its deleterious long-term effects, such as hypertension and cardiovascular disease. The aim of this study was to assess diastolic function in women with gestational diabetes mellitus, one of the first signs of future cardiovascular disease.Methods: A total of 21 women with gestational diabetes mellitus and 23 healthy pregnant women (control group) between 34 and 37weeks of gestation underwent echocardiographic assessment. The diagnosis of gestational diabetes mellitus was made in agreement with the American Diabetes Association criteria. Echocardiographic images obtained were analysed according to the criteria of the American Society of Echocardiography. Data were analysed using Pearson correlation coefficient, analysis of variance and Student's t-test.Results: Women with gestational diabetes mellitus had higher posterior wall and interventricular septum thickness, increased left ventricular mass and left ventricular mass index, lower early diastolic annular velocity and early diastolic annular velocity/late diastolic annular velocity ratio. There was a positive correlation between left ventricular mass index and fasting glucose and pregnancy body mass index.Conclusion: Patients with gestational diabetes mellitus seem to have a different diastolic profile as well as a mildly dysfunctional pattern on echocardiogram, which may show a need for greater glycaemic control.

Widespread pH abnormalities in patients with malformations of cortical development and epilepsy: a phosphorus-31 brain MR spectroscopy study

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

Early fetoscopic tracheal occlusion for extremely severe pulmonary hypoplasia in isolated congenital diaphragmatic hernia: Preliminary results

Objective: To evaluate the effect of early fetoscopictracheal occlusion (FETO) (22–24 weeks’ gestation) onpulmonary response and neonatal survival in cases ofextremely severe isolated congenital diaphragmatic hernia(CDH). Methods: This was a multicenter study involving fetuseswith extremely severe CDH (lung-to-head ratio < 0.70,liver herniation into the thoracic cavity and no otherdetectable anomalies). Between August 2010 and December 2011, eight fetuses underwent early FETO. Datawere compared with nine fetuses that underwent standard FETO and 10 without fetoscopic procedure fromJanuary 2006 to July 2010. FETO was performed undermaternal epidural anesthesia, supplemented with fetalintramuscular anesthesia. Fetal lung size and vascularitywere evaluated by ultrasound before and every 2 weeksafter FETO. Postnatal therapy was equivalent for bothtreated fetuses and controls. Primary outcome was infantsurvival to 180 days and secondary outcome was fetalpulmonary response. Results: Maternal and fetal demographic characteristicsand obstetric complications were similar in the threegroups (P > 0.05). Infant survival rate was significantlyhigher in the early FETO group (62.5%) comparedwith the standard group (11.1%) and with controls(0%) (P < 0.01). Early FETO resulted in a significantimprovement in fetal lung size and pulmonary vascularitywhen compared with standard FETO (P < 0.01). Conclusions: Early FETO may improve infant survival byfurther increases of lung size and pulmonary vascularityin cases with extremely severe pulmonary hypoplasia inisolated CDH. This study supports formal testing of thehypothesis with a randomized controlled trial.

Congenital ranula: a case report

The purpose of this study was to report a case of bilateral swelling on the floor of the mouth of a 7-month-old patient. The lesion was congenital and had started to cause feeding problems. After the clinical diagnosis of ranula was made, the lesion was marsupialized. The obtained specimen was submitted for histopathological examination, which revealed an epithelial-lined cystic lesion. These results led to the final diagnosis of mucus retention cyst. After an 8-year follow-up period, the patient is in good general health with no recurrences.

Induction of mitotic and chromosomal abnormalities on Allium cepa cells by pesticides imidacloprid and sulfentrazone and the mixture of them

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

Importância das alterações cromossômicas na etiologia da infertilidade

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.

Odontological assistance to Down Syndrome patients having congenital heart malformations

In this study the authors present the frequency and types of congenital heart malformations (CHM) among Down Syndrome (DS) patients emphasizing the prevention of infectious endocarditis (IE) with appropriate antibiotic prophylaxis (ABP). Out of 390 DS patients, 312 (80%) were considered free from any CHM. 78 (20%) presented some CHM; from these 11,54% (n=9) have more than one CHM; ABP to prevent IE was recommended for 41,03% (n=32). Ventricular septal defect was the most frequent CHM (20,51%, n=16). Dentists must know about the patients’ cardiologic diagnosis before a treatment that could cause bleeding, because they have to administer antibiotics to prevent IE. Although some CHM doesn’t need ABP, according to the protocol of the American Heart Association, there are systemic conditions in DS that are relevant to the prescription of antibiotics.

Análise molecular de pacientes com holoprosencefalia

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)