Mutaciones y variaciones estructurales en el gen catecol-O-metiltransferasa de los pacientes que exhiben dolor quirúrgico persistente crónico

ObjectivesMutations in the exon 4 of the COMT gene are associated with chronic persistent surgical pain (CPSP). Especially COMT mutated allele G472A (Val158Met) associated with CPSP patients is reported in different ethnic population. The purpose of this study is to evaluate the prevalence of genetic mutations and structural variations in exon 4 of COMT that can be related to the appearance of CPSP in patients under sternotomy.Materials and methodsOne hundred patients with American Society of Anesthesiologists (ASA) physical status grades i, ii and iii, who underwent sternotomy procedures, were selected to assess the development and magnitude of the CPSP evaluated with pain questionaries’ at the end of three months after surgery. This was correlated with COMT allele presence. The exon 4 of COMT gene (that contains the G472A allele) was studied. The polymerase chain reaction (PCR) products were sequenced and mutated sequences were deposited in GenBank®. The structural analysis of COMT was performed using ProCheck® and distortions of three-dimensional tertiary structural orientation was evaluated with root-mean-square deviation (RMSD) score.ResultsGenetic analysis carried out through PCR showed 220 bp amplicons. The 25% of patients with CPSP showed a Numeric Rating Scale (NRS) > 4 pain score. The 20% of these patients have known Val158Met mutation, 5% of patients showed novel mutations c.382C>G, c.383G>C, p.(Arg128Ala). The mutations in COMT gene contributed major structural variations in COMT leading to the formation of inactive COMT that correlates with CPSP.ConclusionThe results of the present study showed that both novel and previously reported mutations in COMT gene has strong association with CPSP.     

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Thrombotic microangiopathy and acute kidney injury following vivax malaria

Background

Infection with Plasmodium vivax, a common human parasite, is occasionally recognized to cause severe organ dysfunction similar to P. falciparum infection. Acute kidney injury (AKI) in malaria is attributed to acute tubular necrosis; thrombotic microangiopathy is not described.

Methods

This observational study includes patients referred to a tertiary care center in North India during June to September 2011 with severe AKI, anemia, and thrombocytopenia following vivax malaria. Renal biopsies were processed by light, immunofluorescence, and electron microscopy.

Results

Nine patients (including 5 children) had persistent AKI with thrombocytopenia and variable anemia following the diagnosis of malaria. Based on peripheral smear, eight patients were diagnosed with vivax malaria and had received antimalarial therapy prior to referral; a laboratory diagnosis of P. vivax infection was made for one patient at this center. Renal histology in all cases showed features of thrombotic microangiopathy, including fibrin thrombi, subendothelial widening, and mesangiolysis, along with variable tubulointerstitial nephritis and acute tubular or cortical necrosis. Ultrastructural examination confirmed endothelial injury and subendothelial widening. All patients required hemodialysis, and six were dialysis dependent at four weeks. Delayed presentation to the hospital (P = 0.019), hemolysis on peripheral smear (P = 0.083), and prolonged oligoanuria (P = 0.036) were associated with dialysis dependence.

Conclusion

The association of anemia, thrombocytopenia, and renal histological evidence of thrombotic microangiopathy with vivax malaria is novel, and suggests the presence of severe endothelial injury. Further studies are necessary to confirm the association and examine the factors associated with its occurrence.     

Spirochetal dysentery: a case report and review of literature

Spiral shaped bacteria have frequently been demonstrated from human faeces. Their role in causation of disease is, however, controversial; as they have been found to colonise the lower gastrointestinal tracts of both symptomatic and asymptomatic individuals. Here we report a case in which spiral shaped motile, gram negative and nonflagellated bacteria, probably belonging to the genus Borrelia, were demonstrated and associated with acute bloody diarrhea in a cardiac patient. The condition could successfully be treated with short course of Metronidazole. The relevant and up to date literature on this problem is also reviewed.     

Surgical management of diaphragmatic injuries

Background Traumatic diaphragmatic lesions have variable presentations and need a high index of suspicion to be diagnosed in the acute phase. Delayed diagnosis is frequently associated with considerable comorbidity. Material and Methods The present retrospective study aims to evaluate the radiological findings and discuss the surgical approach for the repair of the injured diaphragm. This study includes fifteen cases with diaphragmatic injuries, which were surgically managed between 1994 and 2005. Injuries resulted from violent blunt trauma in twelve patients and three patients had penetrating injuries. Patients presented with hypotension, respiratory insufficiency, acute abdomen and hemothorax. Preoperative diagnosis was established in 12/15 (80%) patients depending on the clinical and the chest skiagram findings. Intra-operative diagnosis was made in the rest. Injuries were more common on the left side (11/15, 73.33%). All these patients underwent repair of the defect by direct closure in double layer using monofilament polypropylene suture. In addition, laparotomy was performed in four patients who had liver and spleen injury. Concomitant procedures included lobectomy, segmentectomy, repair of lung laceration, spleenectomy, spleenorraphy, repair of gastric perforation, intestinal perforation and mesenteric tear. Results One patient died (1/15, 6.66%) of associated injuries. Two patients with major liver injuries had prolonged drainage and repeated subdiaphragmatic collections. Conclusions Associated lesions particularly influence the outcome after traumatic lesions of the diaphragm. Surgical exploration is mandatory whenever diaphragmatic injuries are suspected. Right-sided injuries are best exposed and managed through the right thoracotomy. Direct suture is effective in preventing future specific complications.