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Biomedical subjects

A Roche

Publications and source records attributed to A Roche.

At least 19 recordsLinked to original sources
PubMed1992

Primary structure of dystrophin-related protein.

Dystrophin-related protein (DRP or 'utrophin') is localized in normal adult muscle primarily at the neuromuscular junction. In the absence of dystrophin in Duchenne muscular dystrophy (DMD) patients, DRP is also present in the sarcolemma. DRP is expressed in fetal and regenerating muscle and may play a similar role to dystrophin in early development, although it remains to be determined whether DRP can functionally replace dystrophin in adult tissue. Previously we described a 3.5-kilobase complementary DNA clone that exhibits 80 per cent homology to the C-terminal domain of dystrophin. This sequence identifies a 13-kilobase transcript that maps to human chromosome 6 (refs 2, 11). Antibodies raised against the gene product identify a polypeptide with a relative molecular mass of about 400K in all tissues examined. To investigate the relationship between DRP and dystrophin in more detail, we have cloned and sequenced the whole DRP cDNA. Homology between DRP and dystrophin extends over their entire length, suggesting that they derive from a common ancestral gene. Comparative analysis of primary sequences highlights regions of functional importance, including those that may mediate the localization of DRP and dystrophin in the muscle cell.

Actinin↗
PubMed1992

Absence of a direct coupling of a G protein to dihydropyridine binding sites in rat heart.

In rat heart membranes, the addition of guanine 5'-O-(3-thiotriphosphate) (GTP-gamma-S), a stable GTP analogue, did not significantly modify the displacement of [3H]PN 200-110 binding by the 1,4-dihydropyridine (DHP) agonist Bay K 8644 and antagonists, nifedipine and nicardipine. These results are in agreement with some previously reported electrophysiological and pharmacological data, and they suggest that there is no direct involvement of a G protein in the modulation of DHP sensitive Ca channels in cardiac cells.

3-Pyridinecarboxylic acid, 1,4-dihydro-2,6-dimethy↗
PubMed1992

[Therapeutic strategy in metastatic renal cancer].

Prognostic factors have been described in metastatic renal cell cancer: performance status, weight loss, elevated erythrocyte sedimentation rate, presence of liver metastases. The treatment for a patient with good prognosis consists of: surgical exeresis of solitary metastasis, immunotherapy by either interferon or interleukin 2. Treatment in case of a rom prognosis is a combination of supportive care, orthopedic surgery for pathologic fracture or medullar compression, antalgic radiotherapy, embolization, nephrectomy for hematuria, and analgesic treatments.

Blood Sedimentation↗
PubMed1992

Molecular analysis of the fragile X syndrome.

The molecular analysis of human X-linked disease has progressed rapidly over the last few years owing to advances in power of mapping techniques. Physical DNA maps covering more than 5 million base pairs have been constructed for several chromosomal regions. Many of these regions have now also been cloned into overlapping cosmid and YAC contigs facilitating the search for disease genes. The recent identification of the mutation in the fragile X syndrome is such an example of the power of YAC technology in the characterization of human genetic disease mutations.

Chromosome Mapping↗
PubMed1992

Arterioureteral fistula after extended resection of pelvic tumors: report of three cases and review of the literature.

Arterioureteral fistulas are rare. Three patients with arterioureteral fistulas complicating extended resection of pelvic tumors associated with bilateral cutaneous ureterostomy in the right lower quadrant are reported. In one case, the fistula involved the left ureter, the right common iliac artery, and the inferior mesenteric artery. Pathological iliac artery, pelvic cancer, or operated ureteral stones are often incriminated in the genesis of ureteroarterial fistulas. Insertion of a ureteral catheter has been found to be the main promoting factor. The common iliac artery is involved frequently. Clinical presentation is often limited to gross hematuria, whereas complementary investigations have not proved to be sensitive. Surgical treatment is often complex, but must be undertaken early, even in the absence of absolute proof of diagnosis, in order to preclude uncontrollable massive hemorrhage.

Female↗
PubMed1992

Primary treatment of hepatocellular carcinoma by arterial chemoembolization.

Two hundred and ninety-one patients with hepatocellular carcinoma were treated by chemoembolization (CE), using ethiodized oil, doxorubicin, and a gelatin sponge. Patients with thrombosis of either the portal vein or a main branch were excluded. The mortality rate in the first 2 months after treatment was 7% in noncirrhotic patients, 2.8% in patients with class A cirrhosis, 8% in patients with class B cirrhosis, and 37% in patients with class C cirrhosis. The tumor diameter remained the same in 55.3% of patients, was reduced by up to 50% in 20% of the patients, was reduced by more than 50% in 7.3% of the patients, and almost completely disappeared in 1.8% of the patients. The diameter of the tumor increased in 15.6% of patients. Forty-three patients underwent a resection or transplantation after chemoembolization. Histologic examination of the specimens revealed significant necrosis of the tumor. The long-term survival rate at 2 years was 49% for class A cirrhotics, 29% for class B cirrhotics, and 9% for class C cirrhotics. Complications included cholecystitis (10%), vasculitis (14%), renal decompensation (13%), an increase in ascites (14%), and jaundice (12%). Chemoembolization is an effective and safe initial treatment for hepatocellular carcinoma. It is effective in producing tumor necrosis and reducing the size of the tumor. Improvement in survival was noted when patients who underwent chemoembolization were compared with an historical series of untreated patients, and resection and transplantation are kept as options.

Adolescent↗
PubMed1992

Detection of liver metastases from colorectal cancer: comparison of intraoperative US and CT during arterial portography.

A prospective study was performed to compare the sensitivities of intraoperative ultrasound (US) and computed tomography during arterial portography (CTAP) in the depiction of hepatic metastases from colorectal cancer. Twenty-five patients with hepatic metastases from colorectal cancer were evaluated. All patients underwent partial hepatectomy, and 56 metastases were pathologically proved. Preoperatively, CTAP depicted 51 of the 56 metastases (91%). Intraoperative US depicted 54 of the 56 metastases (96%). Intraoperative US depicted three metastases (5%) that were not depicted with CTAP and two that were missed with palpation (3%). Furthermore, intraoperative US did not demonstrate any false-positive lesions. There was no statistically significant difference in sensitivity between the two techniques. The authors concluded that intraoperative US does not enable detection of more liver metastases from colorectal cancer when CTAP is considered as the preoperative standard of reference. Nevertheless, the results of the study suggest that intraoperative US and CTAP are complementary techniques, and the preoperative use of CTAP for determining the feasibility of hepatic resection cannot prevent the use of intraoperative US.

Adult↗
PubMed1992

Hepatic metastases from colorectal cancer: influence of hepatic volumetric analysis on surgical decision making.

A prospective study was performed to determine the impact of preoperative assessment of estimated postoperative liver volume on surgical decision making for liver metastases from colorectal cancer. Assessment of estimated postoperative liver volume was performed before surgery in 25 patients. Mean estimated postoperative liver volume +/- standard deviation (SD) was 697 cm3 +/- 317 (range, 320-1,532 cm3). Mean relative estimated postoperative liver volume +/- SD was 51% +/- 16 (range, 20%-90%). In two patients, relative estimated postoperative liver volumes of less than 35% prevented resection. These two patients underwent preoperative portal vein embolization, which resulted in marked hypertrophy of the unembolized healthy part of the liver and subsequent safe resection. Before surgery, all patients had a relative estimated postoperative liver volume of greater than 35%, and no cases of postoperative liver failure occurred. The results demonstrated that assessment of estimated postoperative liver volume provides vital preoperative data for reducing the risk of postoperative liver failure.

Adult↗
PubMed1992

Preoperative assessment of resectability of hepatic metastases from colonic carcinoma: CT portography vs sonography and dynamic CT.

OBJECTIVE: A retrospective study was performed to determine the influence of CT portography vs sonography and dynamic CT on the preoperative assessment of the resectability of hepatic metastases from colorectal cancer. MATERIALS AND METHODS: Results of sonography, bolus dynamic CT, and CT portography in 28 patients who underwent surgical exploration (resection or intraarterial catheter placement) for hepatic metastases from colorectal cancer were retrospectively reviewed by two abdominal radiologists and one hepatic surgeon. For each patient, the resectability and surgical approach were decided on the basis of the results of combined sonography-bolus dynamic CT and compared with the decision made from the CT portographic results alone. The final approach suggested was compared retrospectively with the surgical procedure actually performed. RESULTS: Sixty-nine metastases were identified at surgery and pathologically proved. Combined sonography-bolus dynamic CT and CT portography showed 52 (75%) and 64 (93%) metastases, respectively. Twelve metastases in five patients were seen only with CT portography. In four patients, CT portography depicted additional metastases, which changed the surgical approach that had been chosen on the basis of results of sonography and bolus dynamic CT. In one patient, CT portography showed four additional metastases, precluding hepatic resection. CONCLUSION: Findings from CT portography provide vital data unattainable with sonography and bolus dynamic CT that improve the preoperative assessment of the resectability of liver metastases from colonic carcinoma.

Colorectal Neoplasms↗
PubMed1992

[Induction of hypertrophy of a small left hepatic lobe by preoperative right portal embolization, preceding extended right hepatectomy].

The aim of this study was to evaluate the compensatory hypertrophy of the left lobe of the liver, induced by a preoperative right portal embolization (PORPE), and then the feasibility of a right extended hepatectomy. The small size of the left lobe did not initially permit such a resection. Eight patients (mean age: 62 years) underwent PORPE for cancer between September 1987 and December 1991. They represented 4% of the 187 patients undergoing hepatectomy for liver cancer during the same period. The PORPE was conducted by percutaneous access and puncture of the left portal vein (Rex's recessus). The clinical and laboratory safety were good, with fewer adverse effects than with arterial chemo-embolization. The mean increased volume of the left lobe, four weeks after PORPE, was 54% (range: 32-100%) allowing hepatectomy to be performed. The post-operative course of these right extended hepatectomies was uneventful. In conclusion, we think that PORPE needs a careful technique but that it is well tolerated and effective to induce hypertrophy of the future remnant left lobe. It allows resection of some initially unresectable tumors. This technique warrants further development.

Aged↗
PubMed1992

[Nonresectable fibrolamellar hepatocellular carcinoma: outcome of 4 cases treated by intra-arterial chemotherapy].

We evaluated the role of locoregional intraarterial treatment in the management of non-resectable fibrolamellar hepatocellular carcinomas (FLHCC) in 4 women. Three patients underwent transcatheter oily chemoembolization (TOCE) (7 courses), and one received intraarterial iodized oil with chemotherapeutic drug after surgical intraarterial catheter placement (1 course). The latter procedure resulted in marked discomfort and was therefore not repeated. The courses were performed in average every 4 months. TOCE was well tolerated and resulted in a decrease in tumor size in 2 patients, which subsequently permitted a safe hepatic resection. In one patient, TOCE provided a stabilization of tumor size. We conclude that TOCE is a valuable therapeutic tool for the management of non-resectable FLHCC, in particular as it may be followed by hepatic resection.

Adult↗
PubMed1992

[A comparative study of the cost of open-circuit as opposed to closed-circuit ventilation].

The authors compared two open randomized groups of patients undergoing surgery through general anaesthesia. Group 1 consisted of 54 patients ventilated by a Siemens 900 B ventilator in open circuit, and group 2, 56 patients ventilated by an ELSA de Gambro ventilator in a closed circuit. Comparative hour cost for nitrous oxide (N2O), oxygen (O2) and halogen gas, Enflurane, Isoflurane, was noted. All patients received the same regimen of anaesthesia and the two groups were identical in age, weight, surgery, respiratory volume and ventilation time. The evaluation of comparative hour cost included specific materials of close circuit ventilator: CO2 filter (Aridus), Lime. Were excluded maintenance and gas consumption expenditures before patient connected to the ventilator. The total hour cost (O2, N2O, specific materials for close circuit, without halogen gas) was 8.23 FF in closed circuit against 13.28 FF in open circuit, an economy of 38.27%. Hence, for oxygen, the hour cost was 0.70 FF in open circuit against 0.27 FF in closed circuit (gain of 65.3%). For nitrous oxide, the hour cost in open circuit was 12.50 FF against 2.44 FF in closed circuit (80.5%). For Isoflurane, the open circuit hour cost was 41.38 FF against 22.44 FF in closed circuit (47%). For Enflurane, the open circuit hour cost was 14.17 FF against 5.94 FF in closed circuit (58.1%). And, lastly for Enflurane, open circuit hour cost was 14.17 FF against 5.94 FF in close circuit, gain of 58.1%. These "modest" economy against those found in previous studies can be explained by the long-time duration of ventilation, saturating time in open circuit more or less long, depending on the physician, specific materials for closed circuit ventilation--lime, CO2 filter--in not taken into account, the hour cost of O2 + NO2 goes from 8.23 FF to 2.71 FF, and the gain against the close circuit becomes 79.6%: reducing hour cost by 5 times. In order to improve the effective cost of close circuit, the authors proposed: the use of closed circuit ventilation for more than 3 hours surgery, gas saturation in closed circuit after denitrogenation--which demands the use of halogen infjectors, and lime in containers cheaper than disposable cartridges. Respecting the above criteria, the total hour cost in close circuit fell to 4.90 FF, gain of 63% against open circuit. For O2 et N2O, the hour cost goes from 1.34 FF in close circuit to 13.28 FF in open circuit, 90% economy.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1991

Molecular heterogeneity of the fragile X syndrome.

The fragile X syndrome is an X-linked disorder which has been shown to be associated with the length variation of a DNA fragment containing a CGG trinucleotide repeat element at or close to the fragile site. Phenotypically normal carriers of the disorder generally have a smaller length variation than affected individuals. We have cloned the region in cosmids and defined the area containing the amplified sequence. We have used probes from the region to analyse the mutation in families. We show that the mutation evolves in different ways in different individuals of the same family. In addition we show that not all fragile X positive individuals show this amplification of DNA sequence even though they show expression of the fragile site at levels greater than 25%. One patient has alterations in the region adjacent to the CGG repeat elements. Three patients in fragile X families have the normal fragment with amplification in a small population of their cells. These observations indicate that there is molecular heterogeneity in the fragile X syndrome and that the DNA fragment length variation is not the only sequence responsible for the expression of the fragile site or the disease phenotype.

Base Sequence↗
PubMed1991

A YAC contig across the fragile X site defines the region of fragility.

The fragile X syndrome is a common cause of mental retardation and is associated with a fragile site at Xq27.3 (FRAXA). Recently, evidence has been presented for the role of methylation and genomic imprinting in the expression of the disease. We have identified a site of methylation in patients by long range restriction mapping of the region. In this paper we present a YAC contig of this area, localise the CpG sequences which are methylated, and show by in situ hybridisation that the site of fragility lies within this region.

Base Sequence↗
PubMed1991

Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome.

The most common genetic cause of mental retardation after Down's syndrome, the fragile X syndrome, is associated with the occurrence of a fragile site at Xq27.3. This X-linked disease is intriguing because transmission can occur through phenotypically normal males. Theories to explain this unusual phenomenon include genomic rearrangements and methylation changes associated with a local block of reactivation of the X chromosome. Using microdissected markers close to the fragile site, we have been able to test these hypotheses. We present evidence for the association of methylation with the expression of the disease. However, there is no simple relationship between the degree of methylation and either the level of expression of the fragile site or the severity of the clinical phenotype.

Cell Line↗
PubMed1991

Linear order of new and established DNA markers around the fragile site at Xq27.3.

We have used recombinant clones derived from microdissection of the fragile X region to characterize breakpoints around the fragile site at Xq27.3. So far, no microdissection markers derived from Xq28 material have been found, thus allowing a rapid screening for clones surrounding the fragile site by their presence in a somatic cell hybrid containing Xq27.2-Xqter. A total of 43 new DNA markers from Xq27 have been sublocalized within this chromosome band. Of these new DNA markers, 5 lie in an interval defined as containing the fragile X region. The saturation of Xq27 with DNA markers by microdissection demonstrates the power of this technique and provides the resources for generating a complete physical map of the region.

Blotting, Southern↗