Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases.     

Impaired degradation of phytanic acid in cells from patients with mitochondriopathies: Evidence for the involvement of ETF and the respiratory chain in phytanic acid α-oxidation

Summary Phytanic acid -oxidation was studied in cultures of skin fibroblasts and myoblasts from patients with various defects of the respiratory chain in order to obtain information on the subcellular site and the mechanism of this pathway. In fibroblasts from patients with complex IV (cytochromec oxidase) deficiency or glutaricaciduria type II, phytanic acid -oxidation was reduced to 14% of normal, whereas in myoblasts from patients with complex I (NADH-Q reductase) deficiency, it was normal. Apparently, at least one step of phytanic acid -oxidation occurs in mitochondria and in this process electrons are transferred to the respiratory chain via the electron-transfer flavoprotein (ETF).     

Long-term lowering of blood pressure after carotid and vertebrobasilar ischemic stroke

We followed up 107 patients experiencing a first-ever ischemic stroke after having been affected by essential hypertension for at least one year, in order to analyze the phenomenon of post-stroke blood pressure lowering. Of the 82 patients still surviving after three months of follow-up, 44 (54%) had normal arterial blood pressure values. There were no significant differences between these normotensive patients and the 38 with high blood pressure in terms of cerebrovascular risk factors or disability, but blood pressure normalized in 34 of the 54 patients experiencing a carotid stroke (63%) and in only 10 of the 28 experiencing vertebrobasilar stroke (36%) (p=0.035). These data may offer a starting point for further studies of the neurogenesis of arterial hypertension.

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Sommario Al fine di analizzare il fenomeno della normalizzazione della pressione arteriosa dopo ictus cerebrale in pazienti prima ipertesi, abbiamo osservato 107 soggetti con primo ictus ischemico, che erano già precedentemente affetti da ipertensione arteriosa da almeno un anno. Degli 82 (77%) sopravvissuti a tre mesi di follow-up, 44 (54%) hanno mostrato una normalizzazione della pressione arteriosa. L'incidenza di fattori di rischio per malattia cerebrovascolare e disabilità grave non è risultata significativamente diversa nel gruppo degli ipertesi rispetto ai normotesi. Tuttavia la normalizzazione della pressione arteriosa è stata osservata in 34 dei 54 pazienti con ictus carotideo (63%) e solo in 10 dei 28 con ictus vertebrobasilare (36%) (p=0.035). Riteniamo che tali dati offrano uno spunto per ulteriori ricerche sulla genesi neurogena dell'ipertensione arteriosa essenziale.

     

COX-1 and COX-2 inhibition in horse blood by phenylbutazone, flunixin, carprofen and meloxicam: an in vitro analysis.

We report on the inhibitory activity of the NSAIDs meloxicam, carprofen, phenylbutazone and flunixin, on blood cyclooxygenases in the horse using in vitro enzyme-linked assays. As expected, comparison of IC50 indicated that meloxicam and carprofen are more selective inhibitors of COX-2 than phenylbutazone and flunixin; meloxicam was the most advantageous for horses of four NSAIDs examined. However at IC80, phenylbutazone (+134.4%) and flunixin (+29.7%) had greater COX-2 selectivity than at IC50, and meloxicam (-41.2%) and carprofen (-12.9%) had lower COX-2 selectivity than at IC50. We therefore propose that the selectivity of NSAIDs should be assessed at the 80% as well as 50% inhibition level.     

Bone marrow-resident memory T cells survive pretransplant chemotherapy and contribute to early immune reconstitution of patients with acute myeloid leukemia given mafosfamide-purged autologous bone marrow transplantation

OBJECTIVE: Studies of memory T cells transferred with the graft are relevant to better understand the early immune reconstitution of patients given autologous bone marrow transplantation (A-BMT). A critical question is whether memory T cells resident in bone marrow (BM) of patients with hematological malignancies are resistant to either pretransplant chemotherapy or ex vivo pharmacological purging. PATIENTS AND METHODS: To address these issues, we evaluated the frequency of tetanus-toxoid (TT)-specific proliferating T-cell precursors (TT-PTCp) in BM and peripheral blood (PB) of eight patients with acute myeloid leukemia (AML) given A-BMT after in vitro purging of BM with mafosfamide. Patients were studied at the time of BM harvesting and five of them also after A-BMT. RESULTS: The range of TT-PTCp frequencies found after A-BMT were comparable with those observed in PB and in BM at the time of harvesting and did not differ significantly from those of eight age-matched healthy subjects who donated BM for a human leukocyte antigen-identical sibling. TT-PTCp frequencies in BM, studied before and after ex vivo purging, appeared not to be affected by incubation with mafosfamide. We also compared the T-cell receptor (TCR)-Vbeta-repertoire usage of TT-specific T-cell lines (TT-TCL) in BM of patients at the time of harvesting and in their PB 2 months after transplantation. The same TCR-clonotypes were detected in TT-TCL at time of harvesting and after A-BMT. CONCLUSION: These data indicate that BM-resident memory T cells of patients with AML are resistant to both pretransplant chemotherapy and ex vivo pharmacological purging and may contribute to immune reconstitution after A-BMT.     

Removal of osseointegrated dental implants: a systematic review of explantation techniques

Objectives

This systematic review aims to evaluate current literature regarding available techniques for removal of osseointegrated implants in terms of explantation’s success, complications, and bone loss.

Material and methods

Two reviewers conducted a systematic literature search through electronic databases (PubMed and EMBASE), complimented by manual and grey literature searches. Successful explantation was defined as the primary outcome. Complications and availability of residual bone for immediate implantation were defined as secondary outcomes.

Results

Eighteen articles, comprising 372 implants and 241 patients, were included. Five techniques were identified: reverse torque, trephines, burs, piezosurgery, and laser-assisted explantation. Peri-implantitis was the most common reason for explantation, followed by crestal bone loss, fracture, and malpositioning. The reverse torque was the most frequently reported technique (284 implants) with 87.7% success rate. Burs were used for explantation of 49 implants with a 100% success rate, while trephines were utilized for removal of 35 implants with 94% success. Piezosurgery (11 implants) and Er.Cr:YSGG laser (1 implant) showed 100% success. One study reported perforation of the sinus floor following trephine explantation, while another reported fracture of 3 implants following reverse torque application. Further analysis was hindered by the quality of the available studies and their lack of data.

Conclusions

Reverse torque seems the most conservative, and in the authors’ opinion, should be the first choice for explantation despite its inferior success rate. Additional studies with randomized controlled designs and larger sample sizes are required.

Clinical relevance

Dental implants have become the leading choice to replace missing teeth with gradually increasing numbers of complications and failures. An effective, conservative, and economic explantation technique is necessary to allow a successive implant placement.

     

One step arthroscopically assisted Latarjet and posterior bone-block,for recurrent posterior instability and anterior traumatic dislocation

This case presents the challenges of the surgical management for a patient with a history of recurrent posterior shoulder instability and subsequently traumatic anterior dislocation. The patient was already on the waiting list for an arthroscopic posterior stabilization with anchors, when a car accident caused an additional anterior shoulder dislocation. This traumatic anterior dislocation created a bone loss with a glenoid fracture and aggravated the preexisting posterior instability. In order to address both problems, we decided to perform an arthroscopically assisted Latarjet procedure for anterior instability and to stabilize with a bone graft for posterior instability. To our best knowledge, this type of surgical procedure has so far never been reported in the literature. The purpose of this report is to present the surgical technique and to outline the decision making process.