PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.

PLP1 (proteolipid protein1 gene) mutations cause Pelizaeus-Merzbacher disease (PMD), characterized by hypomyelination of the central nervous system, and affecting almost exclusively males. We report on a girl with classical PMD who carries an apparently balanced translocation t(X;22)(q22;q13). By applying array-based comparative genomic hybridization (a-CGH), we detected duplications at 22q13 and Xq22, encompassing 487-546 kb and 543-611 kb, respectively. The additional copies were mapped by fluorescent in situ hybridization to the breakpoint regions, on the derivative X chromosome (22q13 duplicated segment) and on the derivative 22 chromosome (Xq22 duplicated segment). One of the 14 duplicated X-chromosome genes was PLP1.The normal X chromosome was the inactive one in the majority of peripheral blood leukocytes, a pattern of inactivation that makes cells functionally balanced for the translocated segments. However, a copy of the PLP1 gene on the derivative chromosome 22, in addition to those on the X and der(X) chromosomes, resulted in two active copies of the gene, irrespective of the X-inactivation pattern, thus causing PMD. This t(X;22) is the first constitutional human apparently balanced translocation with duplications from both involved chromosomes detected at the breakpoint regions.

Meningitis determined by oligosymptomatic dengue virus type 3 infection: report of a case.

Dengue infection is a mosquito-borne disease caused by a flavivirus, and is recognized in over 100 countries with 2.5 billion people living in areas of risk. Neurological manifestations such as encephalitis, myelitis, Guillain-Barré syndrome, cranial nerve palsies, neuromyelitis optica, and encephalomyelitis have been recognized as clinical consequences of dengue infection. Meningitis is a rare complication. We report the case of a 24-year-old woman who presented with fever, headache, and nuchal rigidity without the typical symptoms of dengue infection. Cerebrospinal fluid analysis showed lymphocytic pleocytosis with a normal glucose value and negative bacterial and fungal cultures. The etiology of meningitis was confirmed by positive dengue PCR in the serum. This case report highlights dengue infection as a potential cause of meningitis in endemic areas. Also, meningitis can be the first manifestation of the infection. Dengue should be investigated even in the absence of a typical picture of the infection.

[Diffuse bone marrow metastasis in cerebellar high-grade astrocytoma. A case report]. / Metastasis difusa de la medula osea en un astrocitoma cerebeloso de alto grado. Un caso clinico.

INTRODUCTION: Cerebellar high-grade astrocytoma is uncommon. Although more prone to present cerebrospinal fluid dissemination, the cerebellar location is not particularly related to the occurrence of extra-cranial metastases, which are also unusual in supratentorial malignant gliomas. CASE REPORT: A 46 year-old man with cerebellar anaplastic astrocytoma who developed pancytopenia due to extensive bone marrow metastases. CONCLUSION: Extraneural metastases of brain gliomas are rare and the spread to the bone marrow confers an extremely poor prognosis for these patients. The expected improvement in glioma patients' survival due to the combination of more efficient therapies may lead to an increased incidence of this uncommon presentation, justifying a more rigorous follow-up of systemic manifestations.

Light microscopy study of cisplatin-induced ototoxicity in rats.

BACKGROUND: Although most studies on animal ototoxicity employ scanning electron microscopy, all cochlear structures may be identified with light microscopy. This paper describes a simple method of histological assessment of cisplatin-induced ototoxicity in rats, and relates morphological changes to functional changes in hearing detected by distortion product evoked otoacoustic emissions. MATERIALS AND METHODS: Male Wistar rats were injected with 8 mg/kg/day cisplatin, or with an equivalent volume of saline solution, for three consecutive days. They underwent distortion product evoked otoacoustic emission testing at baseline and at 24 or 48 hours after the last administration. At the end of the experiment, the animals were sacrificed and their cochleae were retrieved and prepared for haematoxylin and eosin staining. RESULTS: A four-point scoring system was used to grade injury to the external ciliated cells, as indicated by the number of cells absent from the basal turn of the cochlear duct. A four-point scoring system was also used to grade stria vascularis injury, as indicated by the degree of shrinkage of the intermediate cells. Scores were significantly higher in groups treated with cisplatin compared with controls. Morphological changes were confirmed by decreased distortion product evoked otoacoustic emission amplitudes in animals treated with cisplatin. CONCLUSION: This method is simple to perform with routine histology equipment and is appropriate for the study of acute, cisplatin-induced ototoxicity in rats.

Cephalometric evaluation of Class II malocclusion treatment with cervical headgear and mandibular fixed appliances.

The present study aimed to evaluate the cephalometric changes in Class II patients treated exclusively with cervical headgear (CHG) in the maxillary arch and fixed appliances in the mandibular arch as compared with a control group. The sample comprised 82 lateral cephalograms obtained pre- (T1) and post- (T2) treatment/observation of 41 subjects, divided into two groups: group 1-25 Class II division 1 patients (20 females and five males), with a mean pre-treatment age of 10.4 years, treated for a mean period of 2.5 years and group 2-16 Class II untreated subjects (12 females and four males), with a mean initial age of 9.9 years, followed for a mean period of 2.2 years. Treatment changes between the groups were compared by means of t-tests. The results showed restriction of maxillary forward displacement and also a restriction in maxillary length growth, improvement in the maxillomandibular relationship, restriction of mandibular incisor vertical development, reduction in overjet and overbite, and improvement in molar relationship. It was concluded that this treatment protocol corrected the Class II malocclusion characteristics primarily through maxillary forward growth restriction.

Dengue infection: neurological manifestations and cerebrospinal fluid (CSF) analysis.

Neurological manifestation is considered a rare complication of dengue infection. Neurological and cerebrospinal fluid (CSF) findings of 13 patients with dengue infection were studied. Seven patients had encephalitis, two had myelitis and four showed Guillain-Barré syndrome (GBS). No alteration in CSF was found from 57% of those with encephalitis. Patients with GBS and myelitis showed a CSF-blood barrier dysfunction. The differences in the CSF may be related to the location of the lesion and multiple mechanisms of the disease in the nervous system.

Three-dimensional evaluation of skeletal and dental asymmetries in Class II subdivision malocclusions.

The objective of this study was to determine if any significant differences existed with regard to dental and skeletal asymmetries between subjects with Angle Class II subdivision malocclusions and subjects with normal occlusions. The sample consisted of 30 subjects in each of the 2 groups. Each possessed a full complement of permanent teeth, including first molars. The average age of subjects was 15.76 years in the Class II subdivision group and 22.42 years in the normal occlusion group. Measurements were obtained with the use of submentovertex, posteroanterior, and corrected oblique cephalometric radiographs. In the submentovertex radiographs, symmetry was assessed by measuring the relative differences in the spatial positions of dental and skeletal landmarks between the right and the left sides in both anteroposterior and transverse dimensions. Coordinate systems were used to represent the mandible, cranial floor, and the maxilla. In the posteroanterior radiographs, symmetry was assessed similarly by measuring the relative differences in the spatial positions of dental and skeletal landmarks between the right and the left sides. In the corrected oblique radiographs, symmetry was assessed by measuring the differences in size of dental and skeletal structures between the right and the left sides. Variables were analyzed with multivariate logistic regression analysis. The results demonstrated that the primary contributor to the differences between the 2 groups was the distal positioning of the mandibular first molars on the Class II side in patients whose mandibles showed no unusual skeletal or positional asymmetries. A secondary contributor was the mesial positioning of the maxillary first molars on the Class II side. Furthermore, the posteroanterior radiographic analysis showed that the more frequent distal positioning of the mandibular molars on the Class II side, compared with the mesial positioning of the maxillary molars on that side resulted in mandibular dental midline deviation to the Class II side more frequently than the maxillary dental midline to the opposite side.

[Sexual problems experienced by women in HIV-1 crisis]. / Dificuldade sexual vivenciada por mulheres em crise de HIV-1.

This descriptive study was based on the assumptions of qualitative investigation methods and on the Crisis Theory formulated by CAPLAN (1966). The objective of the study was to identify the sexual problems experienced by women undergoing an HIV-1 crisis. Data were collected through a semi-structured interview recorded by the method of FREITAS et al. (1992) and analyzed by the method of MEIHY (1996). Authors concluded that these women maintained themselves unbalanced using negative coping mechanisms. Thus, authors believe that it would be possible to help them using adequate nursing actions such as educational and guidance actions, but mainly by actions directed to the needs of patients undergoing an HIV-1 crisis.

Benign monomelic amyotrophy: a study of twenty-one cases.

A consecutive series of 21 patients with single limb atrophy (monomelic amyotrophy) is reported. Sixteen had lower limb atrophy and five had upper limb involvement. The median age of the onset was 20 years. Characteristic features were sporadic occurrence, wasting confined to one limb, insidious onset with slow progression, stabilizing in 1 to 4 years, and absence of pyramidal signs. All the patients with upper limb involvement were male, however in our cases with lower limb amyotrophy there were no male preponderance. We observed wasting of the entire length of the lower limbs in six patients. There were nine cases with amyotrophy restricted to the leg and one with amyotrophy only in the thigh. In the upper limb in four cases the involvement was distal and in one patient the atrophy was proximal. The electromyographic features were suggestive of anterior horn disease not only in the affected limb but also, in some cases, in clinically uninvolved limb. Cervical or lumbar MRI was normal. MRI of the lower limb disclosed increased signal intensity in the gastrocnemius and soleus muscles in one patient suggesting denervation.

Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease): a clinical variant of the benign monomelic amyotrophy.

Hirayama's disease (HD) is frequently found in Asia, and is rarely referred among westerners. It affects young people with higher incidence in males. It is a focal distal amyotrophy with unilateral or asymmetric bilateral involvement of C7, C8 and T1 innervated muscles. HD appears sporadically and has a benign evolution with clinical stabilization in around one year. We report four young male patients with clinical and electrophysiological alterations described in HD, which were followed-up during 5 years. Electromyographic findings were indicative of lower motor neuron involvement. We analyzed cervical MRI aiming at understanding if a questionable spinal cord compression could be implicated in the pathogenesis, but no abnormality was verified. In view of its clinical, and EMG characteristics, HD is no more than a benign monomelic amyotrophy (BMA) clinical variant, and not a specific disease. This eponym could be considered only for the distal upper limb variant (Hirayama's variant) of the BMA.

A radiographic comparison of apical root resorption after orthodontic treatment with 3 different fixed appliance techniques.

Apical root resorption is an undesirable, but frequent side effect of orthodontic treatment, and therefore improvements in orthodontic techniques and materials are in constant development to decrease it. One of the most recently developed orthodontic techniques is the Bioefficient Therapy that uses contemporary orthodontic materials. Therefore, the primary objective of this study was to compare the amount of root resorption after orthodontic treatment between the simplified standard edgewise technique (group 1), the edgewise straight wire system (group 2), and the Bioefficient Therapy (group 3). It was also the purpose of this investigation to evaluate the amount of root resorption in the whole sample studied and the prevalence of root resorption in the upper and lower incisors. Thus, periapical radiographs were obtained with the long cone paralleling technique for the upper and lower incisors from 30 patients for each group. Root resorption was ranked by scores by 2 examiners who had an excellent intra and interexaminer calibration by Kendall concordance coefficient. Results of the Kruskal-Wallis test demonstrated that group 3 (Bioefficient Therapy) presented less root resorption than the others. It was speculated that the factors responsible for the lesser resorption in this technique were the use of heat-activated and superelastic wires with the bracket design in this technique as well as the use of a smaller rectangular stainless steel wire (0.018 x 0.025 inch) in a 0.022 x 0.028 inch slot during incisor retraction and the finishing stages, as compared to the other techniques. Considering the whole sample, there was no root resorption in 2.25% of the analyzed teeth. There was only a slight resorption in 42.56%, a moderate resorption in 53.37%, an accentuated resorption in 1.40% and an extreme root resorption in only 0.42% of the teeth. The prevalence of resorption for each incisor indicated, in decreasing order, a greater resorption for the upper centrals, followed by the upper laterals, lower centrals, and lastly the lower lateral incisors.

Mechanisms of the contractile effect of the hydroalcoholic extract of Cissampelos sympodialis Eichl. in the rat aorta.

In the present work the effect of the aqueous fraction of the ethanolic extract of the leaves (AFL) of Cissampelos sympodialis Eichl. was investigated in the rat aorta. In the presence of functional endothelium, AFL produced concentration-dependent contractions (EC50 value of 76.6 +/- 17.8 micrograms/ml). In the absence of functional endothelium, the concentration-response curves to AFL were significantly shifted to the left (EC50 values of 1.3 +/- 0.9 micrograms/ml) without modification of its maximal contractile effect. In the presence of L-NAME (300 microM) and of indomethacin (10 mM), the concentration-response curves produced by AFL were also shifted to the left (EC50 values of 21.8 +/- 6.2 and 24.3 +/- 13.2 micrograms/ml, respectively). The treatment of the aortas with L-NAME (300 microM) plus indomethacin (10 microM) produced a significant shift to the left of the concentration-dependent curves of AFL (EC50 value of 4.9 +/- 2.2 micrograms/ml), similar to that observed in the absence of the vascular endothelium. In addition, AFL-induced contraction was abolished in the presence of prazosin (1 microM), and significantly shifted to the right in the presence of yohimbine (EC50 value of 723.6 +/- 76.4 micrograms/ml). Thus, based on these results, it can be concluded that contractions induced by AFL in the rat aorta were due to activation of alpha-adrenoceptors. Furthermore, these results also showed that the AFL-induced contractions were modulated by the endothelium, via the release of NO and of a cyclooxygenase-derived relaxant product. Finally, it can be concluded that the contractile effects of AFL on vascular smooth muscle may play an important role in the hypertensive effects of this plant in vivo.

[Understanding the sexuality of HVI-1 carriers]. / Compreendendo a sexualidade de indivíduos portadores de HIV-1.

The objective of the present investigation was to identify the sexual difficulties experienced by persons in an HIV-1 crisis. This is a study of a descriptive nature based on the Theory of Crisis. The sample consisted of 5 patients with HIV-1 followed up clinically in a town in the hinterland of the state of São Paulo. Semistructured interviews were tape recorded and transcribed. Data were analyzed according to MEIHY (1996) and BARDIN (1994). We conclude that the subjects presented a negative adaptation with respect to sexual, social and emotional difficulties. The results indicate the need for effective nursing interventions with persons in an HIV-1 crisis.

[Contribution to the understanding of the sexuality of partners of people with permanent colostomy]. / Subsídios para a compreensão da sexualidade do parceiro do sujeito portador de colostomia definitiva.

The general purpose of the present investigation was to describe the sexual interactions involving colostomized individuals, aiming at understanding this experience. The authors aimed also at identifying the mode regarding sexual procedures used by colostomized individuals and the possible effects of colostomy on these procedures. Therefore, a semi-structured interview, recorded or not, was applied to partners of colostomized subjects. The interviews were transcribed and analyzed according to the content analysis technique. Authors divided the results in 39 subcategories with 4.361 speech units that were gathered in three main categories. The category I "Precedence of the crisis" included 4 subcategories with 113 (36.67%) speech units. The category II "Crisis" comprised 17 subcategories with 1599 (36.67%) speech units and Category III "Crisis' Results" comprehended 18 subcategories with 2649 (60.74%) speech units. Data were validated by an expert on content analysis and the conclusion was that the main concern of health professionals is to keep subjects with a definitive colostomy alive, providing orientations focussing on the stoma, its care and gastrointestinal function. The speech of partners showed a clear presence of post-crisis results, representing a great danger to their general and sexual integrity and to their general and sexual adaptation on a short, medium and long-term basis.

Dioclein, a new nitric oxide- and endothelium-dependent vasodilator flavonoid.

In the present work, the vasorelaxant effect of dioclein, a new flavonoid isolated from Dioclea grandiflora (Leguminoseae), was investigated in the rat aorta. Dioclein induced a concentration-dependent relaxation in vessels pre-contracted with phenylephrine (IC(50)=1.3+/-0.3 microM), a response which was abolished after endothelium removal. Neither indomethacin (10 microM), an inhibitor of cyclo-oxygenase, nor atropine (1 microM), an antagonist of muscarinic receptors, modified the effect of dioclein. Dioclein (30 microM) induced a significant increase in guanosine 3':5'-cyclic monophosphate (cyclic GMP) levels in aortic rings with endothelium. The nitric oxide (NO) synthase inhibitor, N(G)-nitro-L-arginine-methyl-ester (L-NAME, 300 microM), strongly inhibited or abolished the relaxing effect and rise in cyclic GMP levels induced by dioclein. Furthermore, dioclein (30 microM) had no effect on the endothelium-independent relaxation produced by the NO donor, 3-morpholino-sydnonimine (SIN-1), while superoxide dismutase (100 U ml(-1)) significantly potentiated it. These results indicate that, in the rat aorta, dioclein induces a NO- and endothelium-dependent vasorelaxant effect, which is associated with cyclic GMP elevation. This vasorelaxation likely results from enhanced synthesis of NO rather than enhanced biological activity of NO.

[Critical illness polyneuropathy: case report]. / Polineuropatia do paciente crítico. Registro de caso.

The critical illness polyneuropathy has an acute onset and an axonal predominantly motor nature. It occurs in sepsis or in multiple organ failure usually requiring mechanical ventilation in critical care units. Electroneuromyography corroborates the diagnosis. Usually it courses satisfactorily. We report on a 35-year-old female patient who, after a permanence in a critical care unit due to sepsis and removal of a dead phetus, developed tetraparesis. She had an important improvement in four months. Electromyography showed reduction of amplitude of motor and sensory action potentials, positive waves and fibrillations. The sural nerve biopsy showed axonmyelinic neuropathy. These findings are consistent with those in literature and we believe they support the diagnosis of critical illness neuropathy.

[Ulnar nerve palsy in leprosy without skin changes: biopsy of the superficial branch of the ulnar nerve in the hand]. / Paralisia do nervo ulnar na lepra sem alterações cutâneas. Biópsia do ramo superficial do nervo ulnar na mão.

Leprosy is one of the most common diseases of peripheral nerves in the world. In Brazil it is particularly frequent, being a major health problem. In tuberculoid leprosy the ulnar nerve is the most common affected nerve. Sometimes there are no skin changes. In these cases in spite of nerve thickening only the nerve biopsy is capable to make a specific diagnosis. We performed a biopsy in the dorsal sensory branch of the ulnar nerve in the hand in 17 patients with ulnar palsy with thickening of the nerve in the elbow, without skin changes. The pathological findings consisted mainly of: loss of fibers (14 cases), inflammatory infiltration (13), fibrosis (12), demyelination and remyelination (9), presence of granuloma (6) and presence of bacilli (5 cases). We conclude that in case of ulnar nerve palsy in leprosy without skin changes, the biopsy of the dorsal sensory branch of this nerve in the hand is a good procedure for the diagnosis of leprosy.

Nickel hypersensitivity reaction before, during, and after orthodontic therapy.

Nickel is a strong biological sensitizer and consequently may induce a delayed hypersensitivity reaction (type IV immune response). Because nickel is a component of the majority of the orthodontic alloys, the objectives of this cross-sectional study were to determine the prevalence of nickel hypersensitivity reaction before, during, and after orthodontic therapy with conventional stainless steel brackets and wires; to evidence the induction of this reaction by the orthodontic appliances; and to characterize the nickel hypersensitive persons. Nickel patch tests and a questionnaire were used to evaluate the hypersensitivity to this metal. The total sample consisted of 170 patients, 105 females and 65 males, from the orthodontic department at Bauru Dental School, University of São Paulo. They were divided into three groups as follows: A (n = 60), patients before the beginning of orthodontic therapy; B (n = 66), patients currently undergoing orthodontic treatment, and C (n = 44), patients who had undergone orthodontic treatment previously. The chi-square test (chi2) showed an allergic reaction in 28.3% of the total sample with 23% female and 5.3% male. This indicated a gender difference (chi2 = 10.75, p < 0.001). There was a positive association between nickel hypersensitivity and previous personal allergic history to metals (chi2 = 34.88, p < 0.0001) as well as with the daily use of metal objects (chi2 = 11.95, p < 0.0005). There was no statistically significant difference in the prevalence of contact dermatitis among the three groups (chi2 = 0.39, p = 0.848). This suggests that orthodontic therapy with conventional stainless steel appliances does not initiate or aggravate a nickel hypersensitivity reaction.