Biomedical subjects
Publications and source records attributed to M R Pinto.
The authors report a familial case of mosaicism for an extra ring 20, identified by fluorescence in situ hybridization (FISH), in a mother and her child. In spite of the fact that both patients had clinical abnormalities, the more severe phenotype present in the child was probably due to the higher percentage of abnormal cells. To our knowledge, this is the first report of a familial extra ring 20 mosaicism.
OBJECTIVE: Vacuum-assisted wound closure (VAC) exposes the wound bed to negative pressure, resulting in removal of edema fluid, improvement of blood supply, and stimulation of cellular proliferation of reparative granulation tissue. It has been used to treat open wounds in the extremities, open sternal wounds, pressure ulcers, and abdominal wall wounds. This study retrospectively reviewed instrumented spine fusions complicated by surgical wound infection and managed by a protocol including the use of VAC in order to evaluate the efficacy of applying vacuum therapy on patients with deep spine infections and exposed instrumentation. METHODS: Twenty consecutive patients with deep wound infections after undergoing spinal fusion procedures were studied. There were 12 men and 8 women with an average age of 55 years (31-81 years). Eight patients had undergone concomitant anterior and posterior arthrodesis, nine patients had a posterior spinal fusion, and three patients had a transforaminal lumbar interbody fusion. Seven patients had a decompression with exposed dura. Sixteen patients presented with a draining wound within the first 6 weeks postoperatively (average 24 days). There were four patients who presented with back pain and temperature after 1 year postoperatively (average 3 years). All patients were taken to the operating room for irrigation and debridement followed by placement of the VAC with subsequent delayed closure of the wound. RESULTS: There was an average of 1.8 (1-8) irrigation and debridement procedures prior to placement of the VAC. Once the VAC was initiated, there was an average of 2.2 (2-3) procedures until and including closure of the wound. The wound was closed an average of 7 days (5-14 days) after the placement of the initial VAC in the wound. All patients tolerated the VAC without adverse effects. All patients were kept on a 6-week course of intravenous antibiotic therapy. The average follow-up was 10 months (6-24 months). There were no cases of uncontrolled sepsis once the VAC was initiated. All patients achieved a clean closed wound without removal of instrumentation at a minimum follow-up of 6 months. CONCLUSION: VAC therapy is an effective adjunct in closing complex deep spinal wounds with exposed instrumentation.
From July 1995 to December 2001, 42 patients with leukemia aged 1-42 years underwent cord blood transplant (CBT) from unrelated, < or = 2 antigen HLA mismatched donors. In all, 26 patients were in < or = 2nd complete remission and 16 in more advanced phase. Conditioning regimens, graft-versus-host disease (GVHD) prophylaxis and supportive policy were uniform for all patients. The cumulative incidence of engraftment was 90% (95% CI: 0.78-0.91). The cumulative incidence of III-IV grade acute- and chronic-GVHD was 9% (95% CI: 0.04-0.24) and 35% (95% CI: 0.21-0.60), respectively. The 4-year cumulative incidence of transplant-related mortality (TRM) and relapse was 28% (95% CI: 0.17-0.47) and 25% (95% CI: 0.14-0.45), respectively. The 4-year overall survival (OS), leukemia-free survival (LFS) and event-free survival (EFS) were 45% (95% CI: 0.27-0.63), 47% (95% CI: 0.30-0.64) and 46% (95% CI: 0.30-0.62), respectively. In multivariate analysis, the most important factor affecting outcomes was the CFU-GM dose, associated with CMV serology (P=0.003 and 0.04, respectively) in influencing OS and with patient sex (P=0.008 and 0.03, respectively) in influencing LFS. Finally, CFU-GM dose was the only factor that affected EFS significantly (P=0.02). In conclusion, the infused cell dose expressed as in vitro progenitor cell growth is highly predictive of outcomes after an unrelated CBT and should be considered the main parameter in selecting cord blood units for transplant.
A molecular phylogeographic study of Paragonimus mexicanus collected from Guatemala and Ecuador was performed. Genomic DNA was extracted from individual metacercariae, and two gene regions (partial mitochondrial cytochrome c oxidase subunit 1 (CO1) and the second internal transcribed spacer of the nuclear ribosomal gene repeat (ITS2)) were amplified by the polymerase chain reaction (PCR). Sequences segregated in a phylogenetic tree according to their geographic origins. ITS2 sequences from Ecuador and Guatemala differed at only one site. Pairwise distances among CO1 sequences within a country were always lower than between countries. Nevertheless, genetic distances between countries were less than between geographical forms of P. westermani that have been suggested to be distinct species. This result suggests that populations from Guatemala and Ecuador are genetically differentiated perhaps at the level of subspecies.
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An ergonomic approach could improve the quality of life and activities in daily living. Gerontechnology reduces the effects of age-related impairments with technological devices and particular design for the home-environment. Physiological decline with increasing age renders the daily activities at home more difficult. This paper highlights some "common sense" and specific design suggestions in the entrance and kitchen, aimed to increase the self-sufficiency of elderly people. We suggest that gerontechnology may have a particular role in the improvement of comfort and safety for aged people.
The authors reviewed 817 instrumented lumbosacral fusions in adults and found an incidence of 3.2% deep wound infections. The primary focus of this study was the management of these infections, with particular attention to whether the implants needed to be removed. A consulting infectious disease specialist indicated that an acute infection of a low back fusion wound could not be healed without removal of the metallic implants. This opinion was in contrast to the authors' daily experience and prompted this study. The authors identified and reviewed 817 cases of instrumented posterior lumbosacral arthrodeses in adults. A detailed analysis of any case with a deep wound infection was performed and yielded and infection rate of 3.2% (26 patients). Of these, 24 achieved a clean, closed wound without removal of instrumentation through a protocol of aggressive debridement and secondary closure. Instrumentation removal is not necessary to obtain a clean, closed wound using an aggressive approach with early diagnosis, vigorous debridement in the operative room under general anesthesia, delayed primary or secondary closure, and appropriate antibiotic coverage.
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In the hermaphrodite ascidian Ciona intestinalis, the egg vitelline coat (VC) controls gamete self-nonself discrimination. Oocytes, after germinal vesicle breakdown, can be fertilized by both self and nonself sperm. However, a barrier to fertilization by self sperm progressively develops in the VC in the 3 hours after germinal vesicle breakdown. During this period, follicle cells attached to the outer surface of the VC release self-sterility factors that bind to the VC. Within the follicle cells, these factors (possibly peptides) are thought to be shuttled to the cell membrane by an hsp70 homolog (Cihsp70). In fact, antibodies to hsp70 block the development of self-sterility. Proteasomes are central to the production of antigen peptides. Specific inhibition of proteasome activity with clasto-lactacystin beta-lactone (CLbetaL) prevented the onset of self-sterility, but had no effect once this process had started. CLbetaL did not block fertilization by nonself sperm. The self-sterility factors were removed from mature oocytes by exposure to acidified media, and their biological activity was transferred to immature oocytes treated with CLbetaL. The obvious high multiplicity of self-nonself recognition alleles involved in fertilization, and the involvement of an hsp70 and a proteasome in processing self-sterility factors, suggests that this system may be evolutionarily related to the vertebrate immune system.
Previous studies have identified beta-N-acetylglucosaminidase (GlcNAc'ase) and (alpha-mannosidase activities on the Drosophila melanogaster sperm surface which may have a role in fertilization. The aim of this study was to investigate their linkage to the sperm plasma membrane. We verified that glycosidases are not peripherally adsorbed to the cell surface by evaluating their resistance to release by KI, by buffered salt solutions of high ionic strength or alkaline buffers. Glycosidases were released from the sperm surface by detergents and, only to a minor extent, by mild proteolysis. Differential detergent solubilization pointed out that Triton X-114 was the most effective releasing agent for GlcNAc'ase and CHAPS for mannosidase. No activity was released from the membrane by a phosphatidylinositol-specific phospholipase C (PI-PLC). The released forms were quite hydrophilic in phase separation experiments with Triton X-114. This finding indicates the presence of a hydrophobic domain limited to a single transmembrane helix or/and the presence of an extensive glycosylation. The use of a Con-A binding assay demonstrated that both the enzymes are glycosylated. The molecular weight of the released glycosidases estimated by gel filtration was 158 kDa for GlcNAc'ase and 317 kDa for mannosidase. These results suggest that Drosophila melanogaster GlcNAc'ase and mannosidase are mannosylated integral membrane proteins that would function as exoenzymes with their active sites accessible in the extracellular space.
BACKGROUND: The safety and the effectiveness of pedicle-screw instrumentation in the spine have been questioned despite its use worldwide to enhance stabilization of the spine. This review was performed to answer questions about the technique of insertion and the nature and etiology of complications directly attributable to the screws. METHODS: We performed a retrospective review of all of the pedicle-screw procedures that were done by us from January 1, 1984, to December 31, 1993. We inserted 4790 screws during 915 operative procedures on 875 patients; 668 (76.3 percent) of the patients had a lumbosacral arthrodesis. The mean duration of follow-up was three years (range, two to five years). The accuracy of screw placement was assessed on intraoperative, immediate postoperative, and follow-up radiographs with use of a technique that was developed by one of us (F. D.); this technique has yet to be validated to determine the prevalence of various types of error. RESULTS: Of the 4790 screws, 4548 (94.9 percent) had been inserted within the pedicle and the vertebral body. One hundred and thirty-four (2.8 percent) of the screws had perforated the anterior cortex, and this was the most common type of perforation. One hundred and fifteen (2.4 percent) of the screws were associated with complications that could be ascribed to the use of pedicle screws. The most common problem was late-onset discomfort or pain related to a pseudarthrosis or perhaps to the screws; this problem was associated with 1102 (23.0 percent) of the screws, used in 222 (24.3 percent) of the procedures. The symptoms necessitated removal of the instrumentation with or without repair of the pseudarthrosis. A pseudarthrosis was found during forty-six (20.7 percent) of the 222 procedures. Irritation of a nerve root occurred after nine procedures (1.0 percent) and was caused by eleven screws (0.2 percent); it was more commonly caused by medially placed screws. Three patients had residual neurological weakness despite removal of the screws. Twenty-five screws (0.5 percent), used in twenty procedures (2.2 percent), broke. The screws that broke were of an early design. A pseudarthrosis was found in thirteen of twenty patients who had broken screws. Sixteen of the twenty patients had an exploration; three of them were found to have a solid fusion, and thirteen were found to have a pseudarthrosis. The remaining four patients had evidence of a solid fusion on radiographs and had no pain. CONCLUSIONS: There are few problems associated with the insertion of screws, provided that the surgeon is experienced and adheres to the principles and details of the operative technique. Our review revealed a low rate of postoperative complications related to pedicle screws. The problem of late-onset pain may be related to the implants or to the stiffness of the construct; however, it is difficult to accurately identify its exact etiology.
A case of mosaicism for tetrasomy 18p detected prenatally is reported. We believe this is the second case where fetal anomalies were found at autopsy.
Sperm proteasomes are thought to be involved in sperm binding to and in sperm penetration through the vitelline coat of the eggs of the stolidobranch ascidian Halocynthia roretzi. However, it is not known whether they are involved in the fertilization of eggs of other ascidians. Therefore, we investigated whether sperm proteasomes are also involved in the fertilization of the eggs of the primitive phlebobranch ascidian Ciona intestinalis. Fertilization of the eggs of C. intestinalis was potently inhibited by the proteasome inhibitors MG115 and MG132 but not by the cysteine protease inhibitor E-64-d. On the other hand, neither fertilization of the vitelline coat-free eggs nor sperm binding to the vitelline coat was inhibited by the two proteasome inhibitors at a concentration sufficient to inhibit fertilization of intact eggs. These results indicate that the proteasome plays an essential role in sperm penetration through the vitelline coat rather than in sperm binding to the coat or in sperm-egg membrane fusion. The proteasome activity, which was detected in the sperm extract using Suc-Leu-Leu-Val-Tyr-MCA as a substrate, was strongly inhibited by both MG115 and MG132, and was weakly inhibited by chymostatin, whereas neither leupeptin nor E-64-d inhibited the activity. The molecular mass of the enzyme was estimated to be 600-kDa by Superose 12 gel filtration, and the activity in sperm extract was immunoprecipitated with an anti-proteasome antibody. These results indicate that the proteasome present in sperm of C. intestinalis is involved in fertilization, especially in the process of sperm penetration through the vitelline coat, probably functioning as a lysin.
Here we describe the cloning and expression pattern of Ci-isl, a homologue of vertebrate genes, in the ascidian. Early in development, Ci-isl expression occurs in the primordia of palps and brain vesicle, then in the tailbud embryo it is transiently extended to the notochord cells. At larva stage, the expression is down-regulated in the notochord, and it persists predominantly in the compartments of the nervous system. These observations indicate that also in invertebrates, islet genes show an expression pattern during differentiation of the nervous system.
In the hermaphrodite ascidian Ciona intestinalis, gamete self-incompatibility is a mechanism that prevents self-fertilization and is based on the ability of the oocyte vitelline coat to distinguish and accept only heterologous spermatozoa. The onset of self-sterility occurs during oogenesis and involves or is controlled by the follicle cells. Gamete self-nonself discrimination, a process that can be likened to an immune recognition event, represents a useful model with which to study the evolution of self-nonself recognition. Hsp70 genes, which belong to the major histocompatibility complex (MHC) class III, are supposedly ancestors of the MHC class I and II genes, and chaperonins are known to be involved in antigen processing and presentation. We have isolated and characterized an hsp70 gene (Cihsp70) that is constitutively expressed during oogenesis in the follicle cells of previtellogenic and vitellogenic oocytes. Using a polyclonal antibody against Cihsp70 protein, we demonstrate that the expression of Cihsp70 is required for the switch from self-fertility to self-sterility. The functional involvement of Cihsp70 in gamete self-nonself recognition provides evidence for an ancestral MHC-like system in protochordates.
Gerontology is the scientific study of the ageing process and special problems of aged people. Ergonomics is an applied science for optimizing performance and productivity and reducing the risks of injury, discomfort and illness. Gerontechnology is concerned with fundamental and applied research on the complex interaction of elderly people with technological products and the built environment. It has the potential to improve the capability of people confronted by the challenges of ageing. We suggest that gerontechnology may have a particular role in relation to the reduction of visual acuity, and can improve the comfort and safety of older people.
The case of a patient who developed catatonia one week following Lysergic Acid Diethylamide (LSD) ingestion is presented. The psychosis developed two days after the intake. The catatonic syndrome resolved dramatically following one treatment of electroconvulsive therapy (ECT). This is perhaps the first case report of catatonia following the use of LSD. The need for a diagnostic category of organic catatonia is highlighted.
We performed a prospective study of 317 patients in order to determine the prevalence of deep venous thrombosis after reconstructive operations on the spine; 126 of the patients were examined with duplex ultrasound assessments of the lower extremities to ensure that no asymptomatic thrombi were being missed. Thigh-high stockings and sequential pneumatic compression of the lower extremities were used, in all patients, for prophylaxis against venous thrombosis. No antiplatelet agents or anticoagulant medications were administered. There was no evidence of thrombosis on any of the duplex ultrasound studies. Subsequently, venous thrombosis developed and was treated successfully in one of the 126 tested patients and in one of the 191 untested patients, and a fatal pulmonary embolus developed in one of the untested patients. The over-all clinical prevalence of thrombotic complications was 0.9 per cent (three complications in 317 patients). All three of the patients who had clinical evidence of thrombosis had had an anterior lumbar procedure because of a degenerative disorder or trauma; however, we could not prove that this approach or these diagnoses were significant risk factors for thrombosis (p < 0.05). While it is possible that some thrombi may have escaped both clinical and ultrasonic detection, such thrombi apparently were not enough of a danger to warrant the use of intensive prophylactic procedures that are associated with more risk. On the basis of this prospective study, therefore, we think that routine screening for the detection of asymptomatic thrombosis in patients who have had a procedure on the spine is unwarranted.