Two dimensional echocardiographic visualization of ventricular septal rupture after acute anterior myocardial infarction

In three consecutive cases of ventricular septal rupture after acute anterior myocardial infarction, wide angle two dimensional echocardiography readily visualized the septal defect, permitting the defect to be localized and its size estimated. In addition, negative contrast echoventriculography identified a left to right shunt at the ventricular level. The echocardiographic findings were corroborated by cardiac catheterization data in all patients, by perioperative examination in two and by postmortem findings in one patient. Postoperative echocardiographic studies afforded demonstration of the patch closing the defect.In patients with acute myocardial infarction associated with the sudden appearance of a systolic murmur, two dimensional echocardiography should be performed promptly in order to guide the diagnosis and management of these critically ill patients. In some patients with severe cardiogenic shock, in whom a favorable prognosis depends on rapid treatment, two dimensional echocardiography may allow the patient to be taken to surgery immediately without further study.     

Management and prognosis of metastases to the thyroid gland

BACKGROUND: Intrathyroid metastases (ITM) of extrathyroid cancer are rare and have a poor prognosis. The aim of this work was to identify the sites of primary cancers and the treatment and prognosis of these lesions. STUDY DESIGN: This retrospective study was carried out on patients treated between 1982 and 2002 in the surgical departments of the University hospitals of Poitiers, Limoges, Tours, and Nantes, France. All diagnoses were confirmed by cytology or histologic examination. RESULTS: Twenty-nine patients (41 to 78 years) had ITM. Primary cancers were renal cell in 16 patients, lung in 4, digestive in 4, sarcoma in 1, melanoma in 1, neuroendocrine in 1, and of unknown origin in 1 patient. For 10 patients, diagnoses of primary cancer and ITM were synchronous. For 19 patients, delay between diagnosis of the primary cancer and ITM was 6.8 years (2 months to 16 years). Diagnosis was confirmed with fine-needle aspiration 3 times and with histologic examination of the thyroid 26 times. Twenty-seven patients had thyroidectomy; two were not operated on. After treatment of ITM, 13 patients had new metastatic sites. Mean followup for all patients was 2.3 years. Seven patients (24%) (6 with renal cancer) were disease free (followup 4.5 years). Four patients were alive with disease (followup 1.4 years). Eighteen patients (62%) died of their disease at a mean delay of 1.4 years. CONCLUSIONS: ITM are rare but the diagnosis should be borne in mind when patients have a history of cancer (mainly renal cancer). Preoperative diagnosis and complete evaluation could avoid unnecessary thyroidectomy because numerous patients had diffuse metastases.     

Mise au point d’un questionnaire d’analyse des pensées et sentiments autour de l’alimentation

Purpose

It was to construct a questionnaire in French on the thoughts and the feelings in the respect of the food in the general population. We also wished to detect some eating disorders.

Methods

Eight experts selected nine major subjects concerning the thoughts and the feelings around the food and elaborated a questionnaire including 8 to 10 questions by subject. Having twice been revised by the experts, the questionnaire was criticized by a sample group of 20 persons of different circles, then by 42 medical students in Nutrition. The questionnaire was then handed in 88 medical students (4^th year). These various stages allowed to suppress, to modify and to add different questions. The questionnaire was then sent to 114 medical students and 112 subjects from the general population.

Results

The percentage of returned and totally informed questionnaires (from a sending of 202 questionnaires) was very satisfying (>85%). The concordance of the answers to the redundant questions was very high (>90%). In this population (74% of women), we noted that fear towards the food and eating disorder were frequent: binge eating: 11%, bulimia nervosa: 4,2%, anorexia nervosa: 5%, “the glance of the other one when I eat frightens me”: yes, absolutely: 15%.

Conclusion

This questionnaire concerning thoughts and feelings around the food was validated by the interest which was carried to it, its reproducibility, its understanding by the interrogated persons and the behavioral aspects which it brings. It will be send to 3 000 unselected people of Dijon to judge its interest in the general population. It will be accompanied with a validated inventory to detect eating disorders in order to test its sensitivity and its reproducibility.     

Surgical care, morbidity, mortality and follow-up after nephrectomy for renal cancer with extension of tumor thrombus into the inferior vena cava: retrospective study since 1990s

OBJECTIVES: The aim of our survey was to evaluate surgical care, morbidity, mortality and follow-up of patients who had undergone surgical exeresis of a renal cancer with extension of tumor thrombus into the inferior vena cava. PATIENTS AND METHODS: Between June 1991 and March 2003, 40 (5.4%) patients were operated on for an enlarged nephrectomy with thrombectomy. The upper limit of the tumor thrombus was below the sus-hepatic veins in 21 (52.5%) patients and above the sus-hepatic veins in 19 (47.5%) patients with six (15%) located in the right atrium. RESULTS: Cardiopulmonary bypass (CPB) was used for 12 patients (30%). A per-operative embolism was noted for three (7.5%) patients: two cases of cruoric embolism and one case of gaseous embolism, systematically occurring in patients operated on without CPB. Early mortality was 7.5% (three patients) attributable to hemorrhagic complications. Overall survival at 2 and 5 years was 45.2% and 38.7%, respectively. Disease-free survival at 2 and 5 years was 28.3% and 8.9% respectively. Only the pN stage had a statistically significant prognosis value for overall survival but not for disease-free survival. At the end of the study, only one (2.5%) patient could be considered free of the disease with sufficient follow-up after the surgery. CONCLUSION: Patients with renal cancer and tumor extension in the inferior vena cava need multidisciplinary cooperation to adapt a good surgical strategy, particularly with the use of CPB. However, the rate of patients free of disease after such surgery was low.     

Posterior Rupture of the Interventricular Septum after Acute Myocardial Infarction: Successful Early Surgical Repair

A patient with a large posterior ventricular septal defect complicating an acute inferior myocardial infarction is reported. Because of medically intractable biventricular failure, temporary circulatory assistance was initiated using intraaortic balloon pumping. Emergency coronary angiography, ventriculography, and subsequent operation were carried out. Operative repair involved closure of the septal defect with the use of a Dacron patch, infarctectomy, and aortocoronary bypass grafting and resulted in long-term survival of the patient.     

Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot–Marie–Tooth presentation

We report on four patients with severe polyneuropathy associated with intestinal pseudoobstruction (MNGIE). Three patients presented characteristic supranuclear ophthalmoplegia, and hyperdense signals on T2 weighted cerebral MRI and dystrophic mitochondria in Schwann cells and in endothelial cells in nerve biopsy specimens. Two of these patients had a Charcot–Marie–Tooth (CMT) presentation. All three were heterozygous for a recessively transmitted double substitution in the TP gene: Glu286Lys/Glu289Ala, Asp156Gly/Leu177Pro and Glu289Ala/Gly387Asp. The fourth patient, who was the only patient of this series with an affected sib, had no oculomotor manifestations, nor T2 hyperdense signals on brain MRI, and no TP gene mutation and or morphological abnormalities of mitochondria on electron microscopic examination. He was the only patient of this series with an affected sib. The three patients with the full MNGIE syndrome died before the age of 30 years. Detailed results of nerve pathology show that severe axonal degeneration is associated with segmental abnormalities of the myelin sheath in this syndrome which appears genetically heterogeneous. Our findings suggest that only ophthalmoplegia and hyperdense signals on cerebral MRI are directly related to the mitochondriopathy.     

A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia

Autosomal dominant hypocalcemia (ADH) can result from heterozygous missense activating mutations of the calcium-sensing receptor (CaSR) gene, a G-protein-coupled receptor playing key roles in mineral ion metabolism. We now describe an ADH kindred of three generations caused by a novel CaSR mutation, a large in-frame deletion of 181 amino acids within its carboxylterminal-tail from S895 to V1075. Interestingly, the affected grandfather is homozygous for the deletion but no more severely affected than heterozygous affected individuals. Functional properties of mutant and wild-type (WT) CaSRs were studied in transiently transfected, fura-2-loaded human embryonic kidney (HEK293) cells. The mutant receptor exhibited a gain-of-function, but there was no difference between cells transfected with mutant complementary DNA alone or cotransfected with mutant and WT complementary DNAs, consistent with the similar phenotypes of heterozygous and homozygous family members. Therefore, this activating deletion may exert a dominant positive effect on the WT CaSR. The mutant receptor's cell surface expression was greater than that of the WT CaSR, potentially contributing to its gain-of-function. This novel mutation in the CaSR gene provides the first known examples of a large naturally occurring deletion within a G-protein-coupled receptor's carboxylterminal-tail and of a homozygous, affected individual with ADH.     

Pancreatic tumours: molecular pathways implicated in ductal cancer are involved in ampullary but not in exocrine nonductal or endocrine tumorigenesis

Alterations of K- ras, p53, p16 and DPC4/Smad4 characterize pancreatic ductal cancer (PDC). Reports of inactivation of these latter two genes in pancreatic endocrine tumours (PET) suggest that common molecular pathways are involved in the tumorigenesis of pancreatic exocrine and endocrine epithelia. We characterized 112 primary pancreatic tumours for alterations in p16 and DPC4 and immunohistochemical expression of DPC4. The cases included 34 PDC, 10 intraductal papillary-mucinous tumours (IPMT), 6 acinar carcinomas (PAC), 5 solid-pseudopapillary tumours (SPT), 16 ampulla of Vater cancers (AVC) and 41 PET. All tumours were also presently or previously analysed for K- ras and p53 mutations and allelic loss at 9p, 17p and 18q. Alterations in K- ras, p53, p16 and DPC4 were found in 82%, 53%, 38% and 9% of PDC, respectively and in 47%, 60%, 25% and 6% of AVC. Alterations in these genes were virtually absent in PET, PAC or SPT, while in IPMT only K- ras mutations were present (30%). Positive immunostaining confirmed the absence of DPC4 alterations in all IPMT, SPT, PAC and PET, while 47% of PDC and 38% of AVC were immunonegative. These data suggest that pancreatic exocrine and endocrine tumourigenesis involves different genetic targets and that among exocrine pancreatic neoplasms, only ductal and ampullary cancers share common molecular events.