Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases

INTRODUCTION: Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a) early age of onset (< 20 or 25 years), b) autosomal recessive inheritance, c) progressive ataxia of limbs and gait, and d) absence of lower limb tendon reflexes. METHODS: We studied the frequency and the size of expanded GAA and their influence on neurologic findings, age at onset, and disease progression in 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia - 19 typical and 6 atypical - using a long-range PCR test. RESULTS: Abnormalities in cerebellar signs, in electrocardiography, and pes cavus occurred more frequently in typical cases; however, plantar response and speech were more frequently normal in this group when the both typical and atypical cases were compared. Homozygous GAA expansion repeats were detected in 17 cases (68%) - all typical cases. In 8 patients (32%) (6 atypical and 2 typical), no expansion was observed, ruling out the diagnosis of Friedreich's ataxia. In cases with GAA expansions, foot deformity, cardiac abnormalities, and some neurologic findings occurred more frequently; however, abnormalities in cranial nerves and in tomographic findings were detected less frequently than in patients without GAA expansions. DISCUSSION: Molecular analysis was imperative for the diagnosis of Friedreich's ataxia, not only for typical cases but also for atypical ones. There was no genotype-phenotype correlation. Diagnosis based only on clinical findings is limited; however, it aids in better screening for suspected cases that should be tested. Evaluation for vitamin E deficiency is recommended, especially in cases without GAA expansion.

The vacuum assisted closure of complex wounds: report of 3 cases

Treatment of wounds using conventional methods is frequently limited by inadequate local wound conditions, or by a poor systemic clinical situation. Vacuum system may promote faster granulation tissue formation, remove excessive exudate, increase blood flow in the wound, and attract the borders of the wound to the center, reducing its dimension. We present 3 cases of patients with difficult wounds, due to bad local conditions, or poor clinical situation, in whom we used a vacuum system to prepare the wound for the surgical closure. One patient had a pressure ulcer, another had a diabetic foot ulcer, and the third one had an open foot stump. In the 3 cases a significant improvement of the wound conditions was achieved after 7 to 8 days, allowing successful surgical treatment with flap or skin grafts.

New method for evaluation of cutaneous sensibility in diabetic feet: preliminary report

Diabetic neuropathy is an important complication of the disease, responsible for ulceration and amputation of the foot. Prevention of these problems is difficult mainly because there is no method to correctly access sensibility on the skin of the foot. The introduction of the Pressure-Specified Sensory Device (PSSD TM) in the last decade made possible the measurement of pressure thresholds sensed by the patient, such as touch, both static and in movement, on a continuous scale. This paper is the first in Brazil to report the use of this device to measure cutaneous sensibility in 3 areas of the foot: the hallux pulp, the calcaneus, and the dorsum, which are territories of the tibial and fibular nerves. METHOD: Non-diabetic patients were measured as controls, and 2 groups of diabetic patients - with and without ulcers - were compared. The PSSD TM was used to test the 3 areas described above. The following were evaluated: 1 PS (1-point static), 1 PD (1-point dynamic), 2 PS (2-points static), 2 PD (2-points dynamic). RESULTS: The diabetic group had poorer sensibility compared to controls and diabetics with ulcers had poorer sensibility when compared to diabetics without ulcers. The differences were statistically significant (P <.001). CONCLUSION: Due to the small number of patients compared, the results should be taken as a preliminary report.

Vegetation near Santa Teresinha, NE Mato Grosso.

The Santa Tenesinha region in northeaster Mato Grosso has a varied vegetation which is principally hammock pantanal. The flat clayey alluvial ground between the hummocks is coveted with a continuous non-cerrado ground cover dominated by grasses but which harbors sedges and a lange herb flora. No woody plants grow in it. The tops of the 10-20m wide, slightly elliptical hummocks, 1.5-2 m high, 10-40 per hectare, are covered with cerrado plants: herbs, semlshrubs, thin- and thick-stemmed shrubs and low trees. For 4-5 months during the latter part of the rainy season, the regional water table rises to the surface and the ground between the hummocks becomes saturated or floods up to 1.5-2 m deep. The tops of the hummocks almost always remain above high water level. In the dry season the surface soil dries out completely. This alternation of saturation or shallow flooding and dryness, prevents woody plant, growth between the hummocks, and except for a few tolerant species, also prevents woody plant. growth on the lower part of the hummochs. The gallery forests in the pantanal are seasonally flooded more deeply but their soil does not dry out so thonoughly in the dry season so woody plant growth is not prevented.

Vanamea GEN. NOV. FOR Livoneca symmetricaVAN NAME,1925, (CRUSTACEA, ISOPODA, CYMOTHOIDAE) AND A REDESCRIPTION OF THE SPECIES BASED ON SPECIMENS FROM BRAZILIAN PIRANHAS

Studies of the cymothoid isopod Livoneca symmetricaVan Name, 1925, showed that this species has characters that preclude its inclusion in LivonecaLeach, 1818, or in any other known genus. The species is redescribed on the basis of male and female specimens from the mouth cavities of Amazonian piranhas (Serrasalmus spilopleura(Kner) and S. elongatusKner) and Vanameagen. nov. is proposed for it. The new genus is defined as having: a cephalon that is not immersed in pereonite 1; mandibles that are "foot-shaped" and without incisors, pereopods that are long and unequal in size and shape; a pleon that is not immersed in the pereon; and a pleotelson that is inflated anteriorly and medially.

Mineralogical and geochemical influences on sediment color of Amazon wetlands analyzed by visible spectrophotometry

Based on sedimentological and geochemical data, this work relates spectrophotometric measurements with sediment composition and its application in palaeoecological studies of Amazon wetlands. The CIELAB values are directly related to mineralogical and chemical composition, mostly involving quartz, iron oxyhydroxides and sulfides (e.g. pyrite), and total organic carbon. Total organic carbon contents between 0.4-1%, 1-2%, 3-5% and 15-40% were related to L* (lightness) data of 27, 26-15, 7-10 and 7 or less, respectively. The CIELAB values of a deposit in Marabá, Pará, were proportional to variations in quartz and total organic carbon contents, but changes in zones of similar color, mainly in the +a* (red) and +b* (yellow) values of deposits in Calçoene, Amapá and Soure, Pará, indicate a close relationship between total organic carbon content and iron oxyhydroxides and sulfides. Furthermore, the Q7/4 diagram (ratio between the % re?ectance value at 700 nm to that at 400 nm, coupled with L*) indicated iron-rich sediments in the bioturbated mud facies of the Amapá deposit, bioturbated mud and bioturbated sand facies of Soure deposit, and cross-laminated sand and massive sand facies of the Marabá core. Also, organic-rich sediments were found in the bioturbated mud facies of the Amapá deposit, lenticular heterolithic and bioturbated mud facies of the Soure deposit, and laminated mud and peat facies of the Marabá deposit. At the Marabá site, the data suggest an autochthonous influence with peat formation. The coastal wetland sites at Marajó and Amapá represent the development of a typical tidal flat setting with sulfide and iron oxyhydroxides formation during alternated flooding and drying.

Sôbre a ocorrência de um órgão cupuliforme, com bordos pelíferos, no colo dos «Seedlings» de Eucalyptus

1 - Os estudos sôbre o órgão cupuliforme datam de 1941, ocasião em que observávamos os "seedlings" de Eucalyptus tereticornis e Eucalyptus citriodora, com o propósito de colher material para estudos anatômicos comparativos das citadas espécies (1). 2 - Examinámos, a seguir, "seedlings" de outras espécies de Eucalyptus, comprovando em tôdas a existência do órgão cupuliforme. 3 -BRIOSI e WARMING, ambos mencionados por HABER-LANDT (4), assinalaram a presença de longos pêlos absorventes, no limite entre radícula e caulículo, respectivamente de plantas aquáticas e de Eucalyptus e outras Myrtaceae, sem contudo se reportarem à existência de qualquer órgão na região considerada. 4 - Revendo a bibliografia especializada, entre as quais a "A Critical Revision of the Genus Eucalyptus" de Maiden (6) e a "Eucalyptographia" do Baron Ferd. von Mueller (7), nenhuma referência encontrámos a respeito de qualquer órgão ou de pêlos absorventes, na região do colo dos "seedlings" de Eucalyptus. 5 - As sementes das 105 espécies constantes dêste trabalho foram obtidas no Serviço Florestal da Cia. Paulista de Estradas de Ferro, em Rio Claro, por nímia gentileza dos Drs. Edmundo Sampaio e Ruben Foot Guimarães, respectivamente Chefe e Encarregado da Secção de Genética do Serviço Florestal. 6 - As sementes foram postas num substrato de esfagno ou "musgo branco", reduzido a pó, coberto com papel de filtro e recebendo apenas água destilada, quer durante a germinação, quer durante o período de crescimento dos seedlings". 7 - Cientificámo-nos que no embrião o órgão cupuliforme já se encontra diferenciado, apresentando-se, nesse estágio, como um anel, disposto à volta do colo, em cujo centro se pode ver a ponta cônica da radícula. 8 - Os pêlos absorventes vão surgindo nos bordos do anel, à medida que este se expande, durante o processo de crescimento dos "seedlings". 9 - A forma, o tamanho, o diâmetro da bôca do órgão cupuliforme, bem como a quantidade e o comprimento dos pêlos absorventes dos seus bordos variam segundo as espécies estudadas. 10 - Do ponto de vista anatômico, a estrutura do órgão é simples. Consta de um parênquima cortical, revestido pela mesma epiderme que recobre a radícula e que se continua pelo caulículo. Os pêlos absorventes, que nascem nos bordos, são semelhantes aos que se produzem na zona pelífera da radícula. 11 - A importância ecológica do órgão é óbvia, uma vez que as sementes de Eucalyptus, sendo exalbuminadas, os "seedlings" devem, o quanto antes, adaptar-se prontamente ao solo, para evitar a solução de continuidade no processo fisiológico da nutrição.

Adubação em "torrão paulista" de Eucalyptus Saligna SM

Num ensaio de adubação com N, P, K e estêrco (E) de mudas de eucalipto (Eucalyptus saligna Sm.) em "torrão paulista" nos viveiros da Cia. Paulista de Estrada de Ferro, em Rio Claro, SP, foi usado um delineamento fatorial de 3x3x3x2, com resultados estatisticamente significativos para N, P e estêrco. As alturas médias das mudas, em centímetros, 3(1/2) meses após a repicagem para os torrões, foram as seguintes. N0 42,4 ± 1,5 P0 56,4 ± 1,5 E0 54,9 ± 1,2 N1 62,8 ± 1,5 P1 58,4 ± 1,5 E1 64,0 ± 1,2 N2 73,2 ± 1,5 P2 63,6 ± 1,5 As médias de algumas combinações interessantes de tratamentos são dadas a seguir, em centímetros. N0PoK0Eo 41,3 ± 6,2 N2P2K0E1 83,0 ± 6,2 N2P0K0E0 59,6 ± 6,2 N2P2K2E1 87,4 ± 6,2 N2P2K0E0 64,0 ± 6,2

New species of Eupalaestrus from Argentina (Araneae, Theraphosidae, Theraphosinae)

A new species of Eupalaestrus Pocock, 1901 from northern Argentina is described and illustrated. Males and females of Eupalaestrus larae sp. nov. differ from those all other species of the genus by the color with distinct two parallel longitudinal stripes on the femora, patellae, tibiae and one longitudinal stripe reaching half of metatarsi; the presence of a thickened femur and tibia IV; a straight embolus of the male palpal bulb and retrolateral keel pronounced. Specimens were captured in Chaco province, inhabiting unflooded flat grasslands open areas inside forest in transitional Chaco eco-region.

O virus do mixoma no coelho do mato (Sylvilagus minenses), sua transmissão pelos Aedes scapularis e aegypti

The brazilian wild rabbit (Sylvilagus minensis) is sensible to the virus of the mixomatosis but the desease takes on it a mild character, lasts for long time and generally do not kill the animal. The tumors are generally smaller and less numerous than those of the domestic rabbit, but sometimes there were noted large and flat lesions (fig. 3). The natural infection of the wild rabbit may be quite common not only because many rabbits caught in the country were found to be immune as also because it was found among the animals caught in the country near Rio, one that was infected with mixomatosis. The experimental infection of the Sylvilagus may be easily obtained by cutan, subcutan or conjuntival way and also when a health wild rabbit is placed in the same cage with a sick domestic animal. It is also possible to obtain the infection of the wild and domestic rabbits by the bite of infected blood sucking insects as fleas and mosquitoes. The infected mosquito can transmit the disease 2 or 3 times til 17 days after an infective meal on a sick rabbit. The transmission is a mecanical one and only the proboscis of the insect contains the virus as it was shown by the inoculation of emulsions of the proboscis, thorax and abdomen of the mosquito. Though mecanical this kind of transmission acts as an important epidemiological mean of dissemination of the deseasse and splains the suddendly outbreaks of mixomatosis in rabbits breedings where no new rabbits were introduced since very long time. The transmition of mixomatosis by fleas (Slenopsylla) was at first demonstrated by us, then S. Torres pointed out the capacity of Culex fatigans to transmit the desease and now we have proved that Aedes scapularis and Aedes aegypti were also able to transmit it (Foto 1 and 2). The virus of the mixomatosis (Chlamidozoon mixoma) is seen on the smeavs of the tumors of the wild reabbit with the same morphology, as in the material of the domestic animal.

Nonhemocyte sources of selected lysosomal enzymes in Biomphalaria glabrata, B. tenagophila and B. straminea (Mollusca: Pulmonata)

The specific activities of acid phosphatase, alkaline phosphatase, β-glucuronidase, lysozymes, glutamate-oxalacetate transaminase and glutamate-pyruvate transaminate were determined in the head-foot and digestive gland of Brazilian Biomphalaria glabrata (Touros), B. tenagophila (Caçapava) and B. straminea (Monsenhor Gil). All six enzymes were detected inthe 3000g supernatant. Both cytoplasmic enzymes, glutamate-oxalacetate and glutamate-pyruvate transaminase exhibited the highest specific activities. In the case of the four hydrolytic enzymes assayed, β-glucuronidase exhibited the highest specific activity while lysozyme showed the lowest activity. All six enzymes are thought to be produced by cells within the head-foot and digestive gland of B. glabrata, B. tenagophila and B. straminea.

Interleukin- 2 production during murine infection by Leishmania mexicana amazonensis

Highly susceptible BALB/c mice, resistant C57B1/6 and their F1 progeny (BDF1) were infected subcutaneously in the foot pad with Leishmania mexicana amazonenesis. At various times after infection, spleen or draining popliteal lymph node cells were assayed for their capacity to generate Interleukin-2 (I1-2) by Concanavalin A (ConA) stimulation. In both BALB/c and C57B1/6 strains there was a transient increase in their capacity to produce I1-2, from the 3rd to the 10th week post-infection. Return to pre-infection levels ocurred between 13th to 16th week post-infection in all three strains. BALB/c mice always produced higher titers of 11-2 than C57B1/6, but such differences were statistically significant only at 3 and 10 weeks post-infection. BDF1 mice had titers similar to those observed in BALB/c mice. I1-2 production by ConA-stimulated lymph node cells was lower as compared to the spleen, but with a similar pattern among the three mice strains. Our data show that susceptibility to infection by l. mexicana amazonenesis is not associated with deficient ConA-stimulated I1-2 production.

Physa Marmorata Guilding, 1828 (Pulmonata: Physidae)

A description of Physa marmorata Guilding, 1828, based on material collected at its type-locality, the Caribbean island of Saint Vincent, is presented. The shell is thin, horn-colored, surface very glossy, diaphanous. Spire acute, elevated; protoconch distinct, rounded-conical, reddish-brown; five not shouldered, broadly convex whorls with subobsolete spiral lines and thin growth lines. Aperture elongated, 1.4-2.0 times as long as the remaining shell length, narrow obovate-lunate; upper half acute-angled,lower half oval,narrowly rounded at the base, outer lip sharp, inner lip completely closing the umbilical region; a very distinct callus on the parietal wall; columellar lip with a low ridge gradually merging into the callus. ratios: shell width/shell length = 0.44 - 0.52 (mean 0.47); spire length /shell lenght = 0.33-0.41 (mean 0.39); aperture length/shell lenght = 0.59-0.67 (mean 0.62). Oral lappets laterally mucronate, foot spatulate with deeply pigmented acuminate tail. Mantle reflection with 6-10 short triangular dentations covering nearly half the right surface of the body whorl, and 4-6 covering a part of the ventral wall. Body surface with tiny dots of greenish-yellow pigment besides melanin. Renal tube tightly folded in toa zigzag course. Ovotestis diverticula acinous, laterally pressed against each other around a collecting canal. Ovispermiduct with well-developed seminal vesicle. oviduct highly convoluted, merging into a less convoluted nidamental gland which narrows to a funnel-shaped uterus and a short vagina. Spermathecal body oblong, more or less constricted in the middle and somewhat curved; spermathecal duct uniformly narrow, a little longer than be body. About 20 prostatic diverticula, simple, bifurcate or divided into a few short branches, distalmost ones assembled into a cluster. Penis long, nearly uniformly narrow; penial canal with lateral opening about the junction of its middle and lower thirds. Penial sheath with a bulbous terminal expasion the tip of which isinserted into the caudal end of the prepuce. Prepuce shouldered, much wider than the narrow portion of the penial sheath. Penial sheath/prepuce ratio about 2.08 (1.45-2.75). The main extrinsic muscles of the penial complex are a retractor, with a branch attached to the bulb, and another to the caudal end of the penial sheath; and a protractor, with a branch attached to the shoulder of the prepuce and adjoining area of the penial sheath, and another to the caudal end of the penial sheath. Egg capsule C-shaped, with 10-30 elliptical eggs (snails 10mm long) measuring about 1.10 mm (0.90-1.32) through the long axis and surrounded by an inner and an outer lamellate membranes. Jaw a simple obtusely V-shaped plate. radula will be described separately.

Physa cubensis Pfeiffer, 1839 (Pulmonata: Physidae)

A description of Physa cubensis Pfeiffer, 1839, based on 15 speciments collected in Havana, Cuba, is presented. The shell, measuring 9.0 x 4,8mm to 12.3 x 6.4mm, is ovate-oblong, thin, diaphanous, horncolored, shining. Spire elevated, broadly conical; protoconch distinct, roundish, reddish-brown. About five moderately shouldered, roundly convex whorls, penultimate whorl expanded; spiral striation subobsolete; growth line faint on the intermediate whorls, clearly visible on the body whorl, crowded here and there. Suture well impressed. Aperture elongated 2.05 - 2.67 (mean 2.27) times as long as the remaining length of the shell, narrow obovulate-lunate; upper half acute-angled, lower half oval, narrowly rounded at the base; outer lip sharp, inner lip completely closing the umbilical region; a thick callus on the parietal wall; columellar plait well marked. Ratios: shell width/shell length - 0.52-0.61 (mean 0.55); spire length/shell length = 0.27 - 0.33 (mean 0.31); aperture length/shell length = 0.67 - 0.73 (mean 0.69). Oral lappets laterally mucronate; foot spatulate with acuminate tail. Mantle relection with 6 - 8 short triangular dentations in the right lobe (columellar side) and 4 - 6 in the left lobe (near the pneumostome). Renal tube tightly folded into a zigzag course. Ovotestis, ovispermiduct, seminal vesicle, oviduct, nidamental gland, uterus and vagina as in Physa marmorata (see Paraense, 1986, Mem. Inst. Oswaldo Cruz, 81: 459-469). Spermathecal body egg-shaped or pear-shaped; spermathecal ducta uniformly narrow with expanded base, a little longer than the body. Spermiduct, prostate and vas deferens as in P. marmorata (Paraense, loc. cit.). Penis wide proximally, narrowing gradually apicad; penial canal with subterminal outlet. Penial sheath following the width of the penis and ending up by a bulbous expansion somewhat narrower than the proximal portion. Penaial sheath/prepuce ration = 1,25 - 1,83 (mean 1.49). Prepuce much wider than the bulb of the penial shealth, moderately shouldered owing to the intromission of the bulb, and with a large gland in one side of its proximal half occupating about a third of its length. Extrinsic muscles of the penial complex as in P. marmorata. Jaw a simple obtusely V-shaped plate. Radula to be described separetely.

Behavior of Biomphalaria glabrata, the intermediate host snail of Schistosoma mansoni, at different depths in water in laboratory conditions

Using three columns of different depths (1.10m, 8.40m and 10.40m), we investigated the possibility of Biomphalaria glabrata moving towards deep regions. In the 1.10m column, we noted that locomotion can occur in two manners: 1) when the foot is in contact with the substrate: a) sliding descent; b) sliding ascent; c) creeping descent; d) creeping ascent, 2) when the foot is not in contact with the substrate: a) sudden descent without emission of air bules; b) sudden descent with emission of air bules; c) sudden ascent. In the 8.40m column containing food on the bottom (experimental group), the snails remained longer at this depth when compared to those of the group which received no food (control). The sliding behavior was characteristic of locomotion occurring at 0 to 1m both in upward and downward directions. Creeping behavior was typical for the ascent of the snails that reached deeper levels. When the snails were creeping, the shell remained hanging as if it were heavier, a fact that may have been due to water entering the pulmonary chamber. In the 10.40m column, the snails slid downward to a depth of 4m or descended suddenly all the way to the bottom. Ascent occurred by creeping from the bottom to the surface. In the 8.40m and 10.40m columns, copulation, feeding and oviposition occurred at the deepest levels.