Mandibular morphology and distraction osteogenesis vectors in patients with Robin sequence.

The aims of this cohort study were to compare the mandibular morphology between patients with Robin sequence (RS) and controls, and to examine the effects of mandibular distraction osteogenesis (MDO) using different vectors. Measurements of the mandibles of 80 patients with RS and 46 controls aged< 90 days were made using computed tomography. The data were compared among isolated RS patients (n = 58), syndromic RS patients (n = 22), and controls. Patients with RS exhibited significantly shorter ramus and body lengths and larger symphyseal angles than controls (all P < 0.001). Patients with isolated RS had shorter body lengths (P < 0.001), while syndromic patients had shorter ramus and body lengths (both P < 0.001) than controls. Seventy RS patients underwent MDO. Pre-MDO (n = 37) and post-MDO (n = 29) mandibular measurements were compared between patients undergoing MDO with a vertical vector and those undergoing MDO with a horizontal vector. Polysomnography data from part of the cohort highlighted the effectiveness of both vectors. MDO with a horizontal vector conferred 11% and 36% increases in ramus and body length, respectively, while these increases were 34% and 27.5%, respectively, with a vertical vector. MDO with a vertical vector was effective in lengthening ramus and body components and should be considered in the presence of ramus hypoplasia.

[Immunosuppressive therapy in severe or chronic pediatric uveitis: Review of the literature]. / Les immunosuppresseurs dans les uvéites pédiatriques sévères ou chroniques : revue de la littérature.

Immunosuppressants are prescribed for pediatric uveitis in cases of severe involvement affecting the prognosis for vision or life, in cases of recurrent or chronic uveitis to achieve corticosteroid sparing, or in cases of corticosteroid resistance. Immunosuppressants used in children include antimetabolites (methotrexate, mycophenolate mofetil, azathioprine), cyclosporine, tacrolimus, and biologics, including infliximab, adalimumab, anakinra, canakinumab, and tocilizumab. The mechanisms of action and indications of the various immunosuppressants are described in this review.

[Post-operative rehabilitation of functional amblyopia in primary infantile glaucoma: 11 year-follow-up]. / Rééducation de la part fonctionnelle de l'amblyopie dans le glaucome primitif infantile opéré, recul de 11ans.

PURPOSE: To evaluate the efficacy of functional amblyopia treatment in children having undergone surgery for primary infantile glaucoma. PATIENTS AND METHOD: Parameters studied included: age at surgery, current age, visual acuity (VA) (initial and most recent acuity), refraction, alignment, adherence to amblyopia treatment, condition of the cornea (Haab striae, stromal scarring, pachymetry, cell count), condition of the optic disc (cupping, RNFL OCT) and intraocular pressure. Pearson's p-value was fixed at 5%. RESULTS: Retrospective study of 29 eyes; average age at surgery was four months, mean follow-up was 11.2 years. Initial VA averaged 4.5 over 10, most recent VA 7 over 10, i.e. a gain of 2.3 over 10. Refraction revealed 37.9% myopia, 10.3% emmetropia, 48.2% hyperopia and an average astigmatism of 2.14 D. A negative correlation was found between astigmatism and most recent VA (rho=-0.7; P<0.001). A positive correlation was found between the quality of the occlusion therapy and the recovery of VA with a gain of 3.2 over 10 (P=0.001). A strong positive correlation was found between the cylinder power and the number of Haab striae [rho 0.702, P<0.0001]; final VA is best when the striae show no organized scar formation (P=0.04). CONCLUSION: This study underlines the necessity of prolonged treatment of functional amblyopia in primary infantile glaucoma for the best possible visual rehabilitation.

[MRI in Duane retraction syndrome: Preliminary results]. / Apport de l'IRM dans le syndrome de Stilling-Duane : résultats préliminaires.

INTRODUCTION: Duane retraction syndrome (DRS) is a congenital ocular motility disorder with innervational dysgenesis. MRI improves our understanding of this disease by providing in vivo access to nerves and oculomotor muscles. The goal of this prospective study (2000-2008) was to analyze DRS clinically and neuroradiologically. PATIENTS AND METHODS: Twenty-four patients (27 eyes) received a complete ophthalmologic evaluation and a brain-orbital MRI. The average age was 6.1 years. MRI was performed with 3D T2 CISS-weighted images through the brainstem to visualize the cisternal segments of the cranial nerves and the orbit (lateral and medial recti muscles). MRI anomalies were classified according to type I, II, and III and depending on their condition in the posterior fossa (absence, hypoplasia) and in the orbit (muscle anomalies). RESULTS: Of 27 eyes, 70% were type I, 19% type II, and 11% type III. MRI showed abducens nerve abnormalities in 93% of the cases (78% absence) and muscle abnormalities in 57.5% of the cases. A detailed description showed 100% abducens nerve abnormalities and 58% abnormal lateral rectus muscle in type I, 60% abducens nerve abnormalities and 60% abnormal lateral rectus muscle in type II, and 100% abducens nerve abnormalities and 66% abnormal lateral rectus in type III. DISCUSSION-CONCLUSION: This study presents two major findings: detection of abducens nerve abnormalities in most cases of DRS whatever the type, associated with muscle abnormalities, and the confirmation that this absence may exist in type II (2/5). Thus MRI proved to be a valuable tool for investigating these patients, improving the comprehension of the physiopathogenics of this disease.

[Ocular biometry in children with hypermetropia: utility of the Lenstar LS 900 optical biometer (Haag-Streit(®))]. / Étude de la biométrie oculaire chez l'enfant hypermétrope : apport du biomètre Lenstar LS 900 (Haag-Streit(®)).

PATIENTS AND METHODS: Biometric measurements were recorded in the eyes of 238 children with hypermetropia (3-16 years of age), using the Lenstar 900 biometer (Haag-Streit(®)) with no contact. Four refractive groups were divided by objective refraction and spherical equivalent (group 1, more than 6.00 D; group 2, +4.50 to +99 D; group 3, +3.00 to +4.49 D; group 4, +1.50 to +2.99 D). Many parameters (i.e., axial length of the eye, anterior chamber depth, crystalline lens thickness, and central pachymetry) were analyzed in refractive groups. Two statistical analyzes were carried out: Pearson correlations on the various measurements and nonparametric tests (LSD tests). RESULTS: This statistical study showed the refractive characteristics of this pediatric population and the incidence of refraction on ocular biometry. There was a correlation between crystalline lens thickness, axial length, and anterior chamber depth. Axial length was significantly correlated in a positive way with age (r=0.332, p<0.001) and with anterior chamber depth (r=0.403, p<0.001), and in a negative way with crystalline lens thickness (r=-0.427, p<0.001). The study of refractive group parameters found a significant difference (p<0.01) between groups in axial length level. Anterior chamber depth decreased when the spherical equivalent increased. The study of crystalline lens thickness found a significant difference (p<0.01) between all four groups and pachymetry, as well as between groups 1 and 4 (p<0.05). CONCLUSION: The Lenstar LS 900 biometer (Haag-Streit(®)) provided a complete biometrical assessment of children's eye in a single and easy measurement procedure. In this pediatric population with hypermetropia, axial length of the eye was mainly correlated with spherical equivalent and other biometric parameters. The relation between these various parameters was influenced and modified by age.

Genotoxicity of swine effluents.

This study aimed at the investigation of genotoxic effects of swine effluents from different stages of a treatment system for swine wastes through bioassay of stamen hairs and micronuclei in Tradescantia (clone BNL 4430). No significant differences (p≥0.05) regarding the genic mutations were found in the bioassay of stamen hairs, independently of the effluent analysed. For the genotoxicity test with micronuclei, the plants exposed to raw wastes, to sludge, and to effluent of the biodigester have presented higher rates of chromosomal damages (micronuclei), with significant differences in relation to the control group and other effluent of the waste treatment system (p≤0.05). The association between the chemical parameters and the genotoxicity data have shown that the variables COD and TKN have presented significant correlation (p≤0.05) with the number of mutagenic events in the tetrads.

[MRI in congenital nystagmus]. / Apport de l'IRM dans les nystagmus congénitaux.

INTRODUCTION: Congenital nystagmus (CN) that is present by the age of 3 months is the most common form of nystagmus in childhood. We present a prospective study (2001-2008) in which we report imaging findings in 48 children with CN. MATERIALS AND METHODS: Twenty-six boys and 22 girls with CN underwent a complete ophthalmologic assessment and a cerebral MRI (mean age of examination under general anesthesia: 11 months). Three CN groups were formed: neurologic (n=27), sensory visual disturbance (n=14), and isolated (n=7). Cerebral MRI was interpreted by the same pediatric neuroradiologist (NG). Of the children studied, 98 % were born at term. The MRI abnormalities were classified as morphologic abnormalities (malformative or nonmalformative) and as signal abnormalities. The location of brain abnormalities was within the posterior fossa, (brain stem, cerebellum, dental nuclei, cisterna magna) and the cerebral hemisphere (white matter, perivascular spaces, midline commissures, basal ganglia). RESULTS: Pendular nystagmus was prevalent in sensory and neurologic nystagmus. On fundus examination, optic disc abnormalities were present in 70 % (19) of neurologic CN and associated with white matter abnormalities of the optic radiations in 40 % of cases. On MRI, malformative morphologic abnormalities were present in 27 cases, nonmalformative abnormalities were found in 67, and signal abnormalities in 68. Within the brain stem, signal abnormalities were found as a cockade appearance of the posterior pons in the reticular regions (neurologic n=14, sensory n=6, isolated n=3). Other bright (most frequent) signal abnormalities were found within the dentate nuclei of the posterior fossa (neurologic n=10, sensory n=3, isolated n=3) and the cerebral white matter (neurologic n=17, sensory n=7, isolated n=5) of which 24 (neurologic n=15, sensory n=5, isolated n=4) involved the optic radiations. Most of these abnormalities were related and were seen most frequently in neurologic nystagmus. The most frequent association was signal abnormalities of the white matter, ventricular dilatation, and dilatation of the perivascular spaces (60.4 %) (neurologic n=13, sensory n=6). CONCLUSION: This study showed the fundamental contribution of the cerebral MRI in CN. Cerebral abnormalities were found at the pathways for ocular motility, particularly at the saccadic pathways.

PAR-6 levels are regulated by NOS-3 in a CUL-2 dependent manner in Caenorhabditiselegans.

The PAR proteins have an essential and conserved function in establishing polarity in many cell types and organisms. However, their key upstream regulators remain to be identified. In C. elegans, regulators of the PAR proteins can be identified by their ability to suppress the lethality of par-2 mutant embryos. Here we show that a nos-3 loss of function mutant suppresses the lethality of par-2 mutants by regulating PAR-6 protein levels. The suppression requires the activity of the sex determination genes fem-1/2/3 and of the cullin cul-2. FEM-1 is a substrate-specific adaptor for a CUL-2-based ubiquitin ligase (CBC(FEM-1)). Interestingly, we find that CUL-2 is required for the regulation of PAR-6 levels and that PAR-6 physically interacts with FEM-1. Our data strongly suggest that PAR-6 levels are regulated by the CBC(FEM-1) ubiquitin ligase thereby uncovering a novel role for the FEM proteins and cullin-dependent degradation in regulating PAR proteins and polarity processes.

Intra and inter populational genetic variability in Maytenus ilicifolia Mart. ex Reiss. 1861, through RAPD markers

Maytenus ilicifolia is a medicinal plant largely used in the South Brazilian folk medicine. The aim of this study was to quantify the intra and inter populational genetic variability in three populations of M. ilicifolia, focusing on the genetic conservation of this species, which has been threatened by anthropic action. RAPD (Random Amplified Polymorphic DNA) markers were used to analyze 30 plants of each of the three populations collected in the Alto Uruguai Gaúcho region. Fourteen selected primers generated a total of 158 bands, 71.5 percent of which were polymorphic. The comparison of Jaccard’s distances showed that the intra populational variation was higher than the inter populational variability, and cluster analysis allowed the separation of the three populations. Just 7.6 percent of the bands were specific of at least two populations. Data indicate that the analyzed M. ilicifolia populations represent a single genetic pool, and therefore any of the population thoroughly can represent the overall genetic variability of the species in the sampled region.

Maytenus ilicifolia é uma planta medicinal bastante utilizada na medicina popular da região sul do Brasil. O objetivo deste estudo foi quantificar a variabilidade genética intra e interpopulacional em três populações de M. ilicifolia visando a conservação genética desta espécie, que se encontra ameaçada pela ação antrópica. Marcadores RAPD (Random Amplified Polymorphic DNA) foram utilizados para analisar 30 plantas de cada uma das três populações coletadas na região do Alto Uruguai Gaúcho. Foram selecionados 14 primers, que geraram 158 bandas, das quais 71,5 por cento foram polimórficas. A comparação das distâncias de Jaccard mostraram que a variabilidade intra populacional foi maior que a interpopulacional, e a análise de agrupamentos permitiu a separação das três populações. Somente 7.6 por cento das bandas foram específicas de pelo menos duas populações. Os resultados indicam que as populações de M. ilicifolia analisadas representam um único conjunto gênico, de tal forma que qualquer uma das populações pode representar a variabilidade genética geral da espécie na região.

Intra and inter populational genetic variability in Maytenus ilicifolia Mart. ex Reiss. 1861, through RAPD markers.

Maytenus ilicifolia is a medicinal plant largely used in the South Brazilian folk medicine. The aim of this study was to quantify the intra and inter populational genetic variability in three populations of M. ilicifolia, focusing on the genetic conservation of this species, which has been threatened by anthropic action. RAPD (Random Amplified Polymorphic DNA) markers were used to analyze 30 plants of each of the three populations collected in the Alto Uruguai Gaúcho region. Fourteen selected primers generated a total of 158 bands, 71.5% of which were polymorphic. The comparison of Jaccards distances showed that the intra populational variation was higher than the inter populational variability, and cluster analysis allowed the separation of the three populations. Just 7.6% of the bands were specific of at least two populations. Data indicate that the analyzed M. ilicifolia populations represent a single genetic pool, and therefore any of the population thoroughly can represent the overall genetic variability of the species in the sampled region.

Inhibins: paracrine and endocrine effects in female reproductive function.

A great deal of new information has arisen in the past 2 years concerning the physiology of inhibins and their clinical relevance in reproductive medicine. It is now recognized that the two inhibin isoforms, inhibin A and inhibin B, are produced by the gonads in the course of gamete maturation and have different patterns of secretion during the menstrual cycle. Inhibins are also produced by the placenta and fetal membranes and may be involved in physiological adaptation of pregnancy. Clinically, inhibins may serve as sensitive tumor markers in postmenopausal women, or as useful tools for evaluating ovarian reserve in infertile women; they may also be used in the diagnosis of materno-fetal disorders.

Isolation and characterization of Aujeszky's disease virus in captive brown bears from Italy.

An epizootic of Aujeszky's disease (pseudorabies) in four captive European brown bears (Ursus arctos) in November 1994, in the Val di Non, Trentino Region, Italy, was linked to consumption of raw pork. Affected animals had severe pruritus resulting in self-mutilation, and all four died within 24 hr after onset of clinical signs. Aujeszky's disease virus was isolated on first passage from the brain and was characterized by means of restriction endonuclease analysis. Based on these data, we believe that bears are extremely susceptible to the disease, and that wildlife managers should consider pseudorabies as a potential risk for the captive and wild bear populations.

[Infestation of roe deer by Cephenemyia stimulator (Clark) (Diptera, Oestridae) in Trent province]. / Infestazione di caprioli ad opera di Cephenemyia stimulator (Clark) (Diptra, Oestridae) in provincia di Trento.

Cephenemya stimulator (Clark) (Diptera Oestridae) is first recorded in Italy parasiting roe deer (Capreolus capreolus). Diagnosis was made by examination of II-III instar larvae (fig. 1-2) from roe deers killed in Trient province. In these last years in the Trentin region, there was an increasing of roe deers number (actually about 20.000); at the same time growed roe deers infestation by C. stimulator (Tab. 1). Females of C. stimulator probably attack young roe-deers lying down on field-pastures near forest (fig. 3). From examination of killed roe-deers (Tab. 2) there is evidence of debilitation status of infested specimens. Location and dislocations of parasitising larvae in the head cavity was that shown in fig. 4 and 5.