In Vivo Platelet Activation Induced by Bothrops jararaca Venom in Rabbits

Disturbances of platelet morphology, coagulation and fibrinolysis were studied 3, 6, and 24 h following administration of Bothrops jararaca snake venom to rabbits (80 μg/kg, i.v.). The activation of coagulation and fibrinolytic systems was demonstrated by a significant decrease in fibrinogen concentration, and an increase in fibrin(ogen) degradation product concentration, respectively. However, the prothrombin activity remained within normal limits throughout. Significant thrombocytopenia was observed 3 h following venom administration. A decrease in platelet dense body numbers was observed until 24 h. 'Exhausted' platelets and evidence of granular secretion were frequently observed in envenomed rabbits. The open canalicular system was only dilated in extensively degranulated platelets. The mean platelet area and boundary values were not significantly different from control group. Therefore, B. jararaca venom can stimulate platelets in vivo, inducing release of platelet granular content. The etiology of thrombocytopenia in B. jararaca envenoming seems to be a multifactorial process, causing platelet sequestration.     

Anastomosis

Esophageal anastomosis is still associated with a high rate of complications even though they have decreased considerably in recent years. Anastomotic leaks are more frequent in the neck than in the chest, and related mortality rate is not different. The leakage incidence does not depend on suture materials or on technical modalities used to perform the anastomosis. In fact, there is no difference between the leakage rate when comparing manual and mechanical anastomoses. The leak incidence after both mechanical and manual anastomoses is much higher in collective reviews than in reports coming from leading centers. Frequent esophageal surgeons can learn from their previous experience and therefore avoid technical errors, whereas casual esophageal surgeons do not have this opportunity. Performing an esophageal anastomosis is a technical matter, and suture healing is independent of the patient's biologic situation. Anastomotic fibrotic stricutures are frequent after both manual and mechanical anastomoses, and most can be avoided by meticulous suturing technique.

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Resumen La anastomosis esofágica todavía se asocia con una elevada incidencia de complicaciones, a pesar de que éstas han descendido en forma considerable en los últimos años. Las fugas anastomóticas son más frecuentes en el cuello que en el tórax y las tasas de mortalidad no son diferentes. La rata de fuga anastomótica no depende de los materiales de sutura o de las modalidades técnicas que se utilicen para realizar la anastomosis. De hecho no hay diferencia en cuanto a la rata de fugas entre las anastomosis manuales y las mecánicas. La incidencia de fuga, tanto en las manuales como en las mecánicas, es bastante más alta en las revisiones colectivas que en los reportes emanados de los centros médicos de mayor importancia. Los cirujanos especialistas en esófago tienen la posibilidad de aprender de sus experiencias previas y con ello evitar los errores técnicos, en tanto que aquellos cirujanos ocasionales no la poseen. La realización de una anastomosis esofágica es un asunto técnico y la cicatrización de la sutura es independiente de la condición biológica del paciente. Las estrecheces fibróticas de las anastomosis son frecuentes luego de las anastomosis manuales, al igual que luego de las anastomosis mecánicas y la mayoría puede ser evitada mediante una técnica meticulosa.

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Résumé Le taux de complications des anastomoses oesophagiennes, même s'il y en a moins ces dernières années, reste toujours élevé. La fréquence de fistules est plus grande quand l'anastomose est faite au cou par rapport au thorax, mais la mortalité n'en est pas très différente. L'incidence de fistules ne dépend ni du matériau de suture ni des modalités d'anastomoses utilisées. Il n'y a aucune différence lorsque les anastomoses manuelles sont comparées aux anastomoses méchaniques: L'incidence des fistules, que ce soit à la main ou à la machine est plus élevée dans les séries collectives par rapport à celle des centres spécialisés. Les chirurgiens qui font des anastomoses de façon régulière ont la possibilité de profiter de leur expérience et ainsi d'éviter les erreurs techniques, alors que le chirurgien occasionnel de l'oesophage n'a pas cette possibilité. L'anastomose oesophagienne est techniquement difficile et la cicatrisation est indépendante de l'état clinique et biologique du patient. Les sténoses fibreuses sont aussi fréquentes après les anastomoses manuelles qu'après les anastomoses méchaniques, mais la plupart peuvent être évitées par une technique méticuleuse.

     

The ret protooncogene is expressed in normal human parafollicular thyroid-cells

The RET proto-oncogene has been demonstrated to be expressed in medullary thyroid carcinomas and pheochromocytomas, and was mutated in patients with the multiple endocrine neoplasia type 2A (MEN 2A). The results presented herein show its expression in normal human thyroid parafollicular C cells. Since RET is predicted to encode a receptor for a still unknown ligand, these data confirm its involvement in the regulation and growth of these cells.     

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological,biochemical and molecular-genetic study

A male infant, born from consanguineous parents, suffered from birth with a progressive neuromuscular disorder characterized by psychomotor delay, hypotonia, muscle weakness and wasting, deep-tendon areflexia and spastic posture. High levels of lactic acid in blood and cerebrospinal fluid suggested a mitochondrial respiratory chain defect. Muscle biopsy revealed raggedred and cytochromec oxidase-negative fibres, lipid accumulation and dystrophic changes. Multiple defects of respiratory complexes were detected in muscle homogenate, but cultured fibroblasts, myoblasts and myotubes were normal. Southern blot analysis showed markedly reduced levels of mitochondrial DNA (mtDNA) in muscle, while lymphocytes, fibroblasts and muscle precursor cells were normal. Neither depletion of mtDNA nor abnormalities of the respiratory complexes were observed in innervated muscle fibres cultured for as long as 4 months. No mutations were observed in two candidate nuclear genes,mtTFA andmtSSB, retro-transcribed, amplified and sequenced from the proband's mRNA. Sequence analysis of the mtDNA D-loop and of the origin of replication of the mtDNA light strand failed to identify potentially pathogenic mutations of these replicative elements in the proband's muscle mtDNA. Our findings indicate that mtDNA depletion is due to a nuclear encoded gene and suggest that the abnormality underlying defective mtDNA propagation must occur after muscle differentiation in vivo.     

Postzygotic instability of the myotonic dystrophy p[AGC]n repeat supported by larger expansions in muscle and reduced amplifications in sperm

We have analysed the [AGC] expansion in leucocytes, muscle and sperm from 17 individuals affected by myotonic dystrophy (DM). Skeletal muscle showed a larger repeat number than leucocytes in the same patient. A similar degree of expansion was detected in differently affected muscles of a single patient. The germline mutation ( 350 repeats) was expanded in somatic cells of the progeny in all patients examined. Our results provide evidence of an early postzygotic instability of the [AGC] repeat in DM.     

Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development

Familial neuroblastoma occurs rarely. We studied a family with three children; one of them has a disseminated (stage 4) and another has a localized (stage 2) neuroblastoma. We observed subtelomeric locus D1Z2 (1p36) deletion in both tumors by using double-color fluorescence in situ hybridization. The MYNC gene was found in single copy in both tumors. Loss of heterozygosity (LOH) and restriction fragment length polymorphism analyses were performed by using DNA from frozen tumor cells and from microdissected tumor areas excised from paraffin-embedded sections. We detected somatic LOH at locus D1S468 (1p36) in a tumor-cell population with a trisomy 1 of the stage-2 patient. Neuroblastoma cells of the stage-4 patient were diploid and showed allelic loss at the following loci: D1S172, D1S80, D1S94, D1S243, D1S468, D1S214, D1S241, and D1S164. Haplotype study showed that the siblings inherited the same paternal 1p36-->pter chromosome region by homologous recombination and that, in the two tumors, arm 1p of different chromosomes of maternal origin was damaged. Our results suggest that the siblings inherited the predisposition to neuroblastoma associated with paternal 1p36 region and that tumors developed as a consequence of somatic loss of the maternal 1p36 allele.     

Mesenteric cystic neoformations: Report of two cases

(Received for publication on Apr. 28, 1997; accepted on May 15, 1998)     

A splenic autograft in posttraumatic splenectomies

BACKGROUND AND AIMS: The authors report their experience regarding the use of autologous splenic transplantation in post-traumatic splenectomy unable to be treated using conservative surgery. After reviewing the international literature on the subject, they report a retrospective survey of cases treated from January 1992 to December 1996. METHODS: Owing to the particular logistic location of the hospital in an area with a high density of industry and at the crossroad of major road and rail routes, a total of 56 patients were admitted to the Emergency Ward suffering from abdominal trauma in 4 years. The patients included in this study could not be treated using conservative surgery: the study group included 15 patients aged between 14 and 76 years old. The surgical technique consisted of the graft of sections of splenic pulp in omental pockets, subsequently marked using metal clips. In order to evaluate splenic immunological function a complete hemochromocytometric examination was performed in each patient at the same time as emergency preoperative tests consisting of peripheral blood strip and pitted cells (PC) assay. This was followed by postoperative evaluations at weekly intervals, including platelet count, Howell-Jolly bodies assay (HJb), immunoglobulin M assay and hepatosplenic scintigraphy using erythrocytes marked with 99m-Technetium pertechnetate (99mTc). RESULTS: An adequate functional recovery of splenic tissue was achieved in all patients with partial recovery of hemocatheretic and immunological function. CONCLUSIONS: The authors' clinical experience confirmed the data inferred from animal experiments: the simplicity of the preparation technique and the autologous transplantation of splenic pulp in the absence of major complications confirms the possibility of applying this method in all splenectomies performed under emergency conditions.     

Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria

Summary Three families are described which include members with typical Friedreich's disease (FD) and others who are ataxic but do not satisfy all the diagnostic criteria for that disease. In family A two patients have an early-onset, rapidly progressive FD, while two others have a late-onset, more benign form. In families B and C one member has typical FD, and another has a similar ataxic syndrome, except for preservation of knee jerks. Laboratory evaluation is consistent with the diagnosis of FD in all cases. FD diagnosis appears justified in secondary cases with late onset or preserved tendon reflexes, provided that the index case fulfils all diagnostic criteria. Whether the diagnosis of FD is tenable in sporadic atypical cases remains to be seen. Echocardiographic and neurophysiological examination may be valuable in classifying such cases.     

Pulsus paradoxus: a definition revisited

Pulsus paradoxus is associated with many clinical conditions and is defined as a greater than 10 mm Hg end-inspiratory decrease in systolic blood pressure. Kussmaul's original definition of pulsus paradoxus is presented, along with an explanation of his choice of the term "pulsus paradoxus." A case of pulsus paradoxus is graphically described using simultaneous two-dimensional targeted M-mode, Doppler echocardiographic, and high-fidelity pressure recordings.