Echocardiographic abnormalities in children with obstructive breathing disorders during sleep

Objectives: To assess cardiac morphology and function by means of echocardiograms of children with obstructad breathing while asleep.Methods: the study enrolled 40 children of both sexes, aged from 3 to 11 years; 30 of them had obstructed breathing during sleep (group I) and 10 children were healthy controls (group II). The two groups were similar in terms of sex, age, weight and height. The 40 children underwent echocardiogram, viewing all four chambers during systole and diastole, paying special attention to the right ventricle (RV). These data were compared by means of Student's t test (p < 0.05).Results: In group I, increased diameter and area of the right ventricle were observed during both systole and diastole. There was less variation in RV area between systole and diastole. Reduced left ventricle (LV) diastolic diameter was also observed, together with reduced ejection fraction and reduced contraction.Conclusions: the morphological and functional cardiac abnormalities observed in the RV and LV suggest that, in children, obstructed breathing during sleep can lead to cardiovascular repercussions. These abnormalities may expose these children to increased anesthetic and surgical risks.

A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child

Congenital hypothyroidism associated with thyroid hypoplasia can be caused by several genetic defects, including mutations in the TSH beta -subunit, the TSH receptor, the G(A)alpha -subunit, and the transcription factor PAX8. Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid glands were analyzed for mutations in PAX8 and TTF2 (FKHL15). Mutations in the coding region of the TSH beta -subunit gene, the TSH receptor gene, and exons 8 and 9 of G(mu)alpha had been excluded previously. Serum TSH concentrations were 150 mU/liter or more, TG levels were within normal limits, and thyroid autoantibodies were absent. Technetium scintigraphies did not reveal the presence of thyroid tissue, but ultrasonography documented hypoplastic, normally located glands.One patient was found to harbor a heterozygous transversion 119A -->C in exon 3 of PAX8 replacing a conserved glutamine by proline in the paired box domain (Q40P). Analysis of her family members revealed that her mother, who has a thyroid gland of normal size and mild, adult-onset autoimmune hypothyroidism, is also heterozygous for this mutation. Functional analyses of the PAX8 Q40P mutation showed impaired binding to a PAX8 response element and absent transactivation of a thyroid peroxidase promoter luciferase reporter gene.These findings confirm the important role of PAX8 in the development of the thyroid, but they indicate that PAX8 gene mutations may have a variable penetrance or expressivity. The absence of mutations in the coding sequences of the analyzed genes in the three other patients supports the concept that the pathogenesis of congenital hypothyroidism associated with thyroid hypoplasia is diverse.

Cistos subependimários diagnosticados pelo ultra-som transfontanelar

Objetivos: avaliar a evolução ultra-sonográfica de cistos subependimários (CSE) do ângulo externo dos ventrículos laterais, e a evolução clínica dos pacientes. Comparar os pacientes com CSE isolados e os com CSE associados a outras lesões. Métodos: foram diagnosticados um a vários cistos no ângulo externo de um ou de ambos os ventrículos laterais, por meio de ultra-som transfontanelar (US) de rotina, realizado nos primeiros dias de vida, caracterizando os CSE. Durante o período de 1981-2000, 66 recém-nascidos tiveram CSE evidenciados na UTI neonatal do Hospital de Port-Royal. Foram constituídos dois grupos: G-I, com CSE isolados (n=21), e G-II, com CSE associados a outras lesões (n=45). Resultados: os recém-nascidos do GI apresentaram maior maturidade, melhores condições de nascimento e menor morbidade respiratória em relação a GII. A incidência de malformações congênitas foi elevada em ambos os grupos. Houve baixa taxa de infecção bacteriana e ausência de infecção congênita. Os CSE foram uni ou bilaterais, únicos ou múltiplos (colar de pérolas), sem diferença entre os grupos estudados, e predominaram à esquerda. US seriados foram realizados em 49/66 pacientes (74%), mostrando aumento no tamanho do cisto em 21/49 (45%), no primeiro mês de vida, enquanto 12 CSE (24%) desapareceram. O óbito ocorreu em dez recém-nascidos com lesões neurológica graves (quatro leucomalácias periventriculares, cinco hemorragias peri e intraventriculares), e somente um com hérnia diafragmática não apresentava outras lesões ao US transfontanelar. Conclusões: as características dos CSE não diferiram quando esses estavam associados a outras lesões. O nítido predomínio no lado esquerdo sugere uma etiologia vascular. Foi encontrada uma alta taxa de malformações associadas, alertando para a possibilidade de uma etiologia malformativa. Ambas hipóteses sugerem um desvio de desenvolvimento, e não de uma fetopatia viral.

Origem anômala de artéria coronária esquerda do tronco pulmonar: síndrome de Bland-White-Garland

A origem anômala da artéria coronária esquerda a partir do tronco pulmonar, conhecida como síndrome de Bland-White-Garland (BWG), é uma doença rara, que, habitualmente, leva à morte antes do primeiro ano de vida. Os autores relatam o caso de uma criança branca, com 2 anos e 6 meses de idade, portadora da síndrome de BWG, e revisam a apresentação clínica, a fisiopatologia, o diagnóstico e o tratamento desses pacientes.

Genotoxicity and Fetal Abnormality in Streptozotocin-Induced Diabetic Rats Exposed to Cigarette Smoke Prior to and during Pregnancy

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

Sperm Organelle Morphologic Abnormalities: Contributing Factors and Effects on Intracytoplasmic Sperm Injection Cycles Outcomes

OBJECTIVE To (1) analyze possible relationships between motile sperm organelle morphology examination (MSOME) and sperm chromatin status, aneuploidy incidence, and patient's age; (2) determine the effects of sperm morphologic abnormalities on intracytoplasmic sperm injection (ICSI) outcomes; and (3) identify the benefits of intracytoplasmic morphologically selected sperm injection (IMSI) in patients with high DNA fragmentation rate.METHODS The study was performed in 50 patients undergoing ICSI cycles. The MSOME, sperm DNA fragmentation, and sperm aneuploidy incidence were performed in 200 sperm cells of each patient. Regression models were used to assess the relationships among sperm morphology and sperm aneuploidy, sperm DNA fragmentation, patient's age, and ICSI outcomes. In cycles with patients showing a high incidence of DNA fragmentation, oocytes were split into 2 groups according to the sperm selection method: Standard-ICSI (n = 82) and IMSI (n = 79). Fertilization and high-quality embryo rates were compared between the groups.RESULTS A close relationship between sperm DNA fragmentation and the presence of vacuoles in the MSOME was noted. The patient's age was correlated to the presence of vacuoles. No correlation between sperm aneuploidy and IMSI was observed. Vacuolated cells were negatively correlated with fertilization, pregnancy, and implantation. In patients with a high incidence of sperm DNA fragmentation, fertilization and high-quality embryo rates were similar when comparing IMSI and Standard-ICSI.CONCLUSIONS Our data demonstrate a correlation between paternal age and the incidence of nuclear vacuoles, as well as an effect of large and small vacuoles on late embryo development. UROLOGY 78: 786-791, 2011. (C) 2011 Elsevier B.V.

Structural abnormalities of the thalamus in juvenile myoclonic epilepsy

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

Systemic congenital lymphangiomatosis

A linfoangiomatose é uma doença rara, caracterizada pela exarcebação da proliferação dos canais linfáticos, ocorrendo em crianças e adultos jovens. Nós descrevemos um caso extremamente raro de linfoangiomatose sistêmica congênita, em um recém-nascido que apresentava ascite e insuficiência respiratória, desenvolvidos imediatamente após o nascimento. O óbito ocorreu nas primeiras horas de vida. Achados de autópsia demonstraram numerosos cistos em tecido mole da região cervical, mediastino, diafragma, e em diversos outros órgãos incluindo: fígado, baço, tireóide e rins. O grave e difuso acometimento de cistos nos pulmões pela linfoangiomatose foi associado ao mau prognóstico e morte no caso relatado.

Reduction of humeroulnar congenital elbow luxation in 8 dogs by using the transarticular pin

The purpose of this study was to evaluate the clinical and radiographic outcome in 8 dogs of surgical reduction of congenital humeroulnar luxation by using the transarticular pin. Five cases were bilateral and 3 were unilateral, for a total of 13 elbows. The treatment was performed in animals between 45 and 150 days of age. Articular stabilization was achieved by using a transarticular pin driven from the caudal aspect of the olecranon into the body of the humerus or into the distal condyle and distal metaphysis of the humerus. The follow-up period was between 1 and 19 months. There were 5 postsurgical reluxations, 3 related to the insertion of the pin into the humeral condyle and 3 related to the insertion into the humeral body. These animals needed further surgery. Six animals showed near normal return to limb function and 2 had lameness. We conclude that the use of the transarticular pin is an effective and simple method for the treatment of humeroulnar congenital elbow luxation.

Use of oocyte transfer in a commercial breeding program for mares with reproductive abnormalities

In some mares with lesions of the reproductive tract, embryo collection and survival rates are low or collection of embryos is not feasible. For these mares, oocyte transfer has been proposed as a method to induce pregnancies. In this report, a method for oocyte transfer in mares and results of oocyte transfer performed over 2 breeding seasons, using mares with long histories of subfertility and various reproductive lesions, are described.Human chorionic gonadotropin or an implant containing a gonadotropin-releasing hormone analog was used to initiate follicular and oocyte maturation. Oocytes were collected by means of transvaginal ultrasound-guided follicular aspiration. Following follicular aspiration, cumulus oocyte complexes were evaluated for cumulus expansion and signs of atresia; immature oocytes were cultured in vitro to allow maturation. The recipient's ovary and uterine tube (oviduct) were exposed through a flank laparotomy with the horse standing, and the oocyte was slowly deposited within the oviduct. Oocyte transfer was attempted in 38 mares between 9 and 30 years old during 2 successive breeding seasons. All mares had a history of reproductive failure while in breeding and embryo transfer programs. Twenty pregnancies were induced. Fourteen of the pregnant mares delivered live foals. Results suggest that oocyte transfer can be a successful method for inducing pregnancy in subfertile mares in a commercial setting..

Radiographic Abnormalities in Barrel Racing Horses with Lameness Referable to the Metacarpophalangeal Joint

Barrel racing is one of the most popular uses of the American Quarter horse in North and South America. Although injury to the metacarpophalangeal joint frequently occurs in this sport, there is limited information describing the nature of these injuries. The aim of this study was to determine the most common radiographic abnormalities in barrel racing horses with lameness referable to the metacarpophalangeal joint. lameness examinations were performed on 63 barrel racing horses. Those found to be lame were subjected to radiographic examination. Lameness at trot was scored on a scale of 0-5 (0 = sound; 5 = inability to move). Data were analyzed using descriptive statistical analysis. of horses examined, 30 (47.6%) were lame with scores ranging from 1 to 4. Half of the lame horses (15 of 30) had grade 2 lameness of the right forelimb. Abnormal radiographic findings were more often present on the left forelimb and included signs of sesamoiditis (70%), villonodular synovitis (56.6%), osteoarthritis (36.6%), osteochondritis dissecans (13.3%), capsulitis (13.3%), and soft-tissue swelling (6.6%). Radiographic abnormalities indicated that sesamoiditis, villonodular synovitis, and osteoarthritis may be associated to mild-to-moderate lameness in barrel racing horses. Complementary sonographic evaluation is recommended to better characterize soft-tissue abnormalities. (C) 2012 Elsevier B.V. All rights reserved.

High incidences of DNA ploidy abnormalities in tongue squamous cell carcinoma of young patients: an international collaborative study

Aims: This multi-centre analysis assessed the DNA content of TSCC in 37 young patients (<40 years) and 28 old patients (>50 years) and determined the correlation of DNA ploidy findings with clinicopathological data.Methods and results: Image cytometry was carried out using an automated cellular imaging system on Feulgen-stained histological sections to obtain high-fidelity DNA histograms. Among young patients, 37.8% were females compared to 18.7% in the older group (P = 0.002). In total, 48.6% patients were non-smokers and 40.5% were non-drinkers compared to 10.7% non-smokers and non-drinkers in the older group (P < 0.0001). TNM, clinical stage of disease and histological grade of differentiation did not differ between groups. Tumour aneuploidy was detected in 86.5% and tetraploidy in 24.3% young patients; this was significantly greater than in the older group where 64.3% were aneuploid (P < 0.0001) and 7.2% tetraploid (P < 0.0001). The mean values of DNA index (DI) and DNA heterogeneity index as well as the percentage of cells with DI exceeding 5N were higher in young patients (P < 0.0001).Conclusions: Young patients with TSCC represent a distinct clinical entity. The high incidence of DNA ploidy abnormalities suggest that they may have increased genomic instability and indicates underlying genetic differences between TSCC in young and older patients.

Congenital fistulae of the lower lip in Van der Woude syndrome: A histomorphological study

Objective: To evaluate a significant number of cases of fistulae of the lower lip with the light microscope in order to investigate the histological variation and to attempt to define the histopathological pattern of the lesion.Methods: Congenital fistulae of the lower lips of 17 patients with Van der Woude syndrome were analyzed by light microscopy,Results and Conclusion: the walls of most of the fistulae consisted of stratified nonkeratinized squamous epithelium and a lamina propria of dense connective tissue with areas of lymphohistiocytic inflammatory infiltrates. Bundles of striated muscle fibers, blood vessels, nerves, adipose tissue, and mixed acinar glands were observed. These glands surrounded the entire wall of the lesion, and their excretory ducts opened into the lumen of the fistula, explaining the clinical observation of elimination of mucous secretion through the opening of the fistula, Two microform cases of fistula were analyzed that presented only a depression in the epithelium at the site corresponding to the opening of the fistula.