Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination

OBJECTIVES: To report a multi-technical approach to Duchenne muscular dystrophy (DMD) mutation testing through carrier analysis, in the prenatal diagnosis of a male foetus without a known mutation segregating in the family and with inconclusive results of linkage analysis. METHODS: Haplotype analysis with the DMD region markers for assigning the carrier status of the mother and for prenatal diagnosis of foetal DNA; semiquantitative multiplex analysis of maternal and foetal DNA for the promoter and for 34 exons of the DMD gene; sequencing analysis of the maternal and foetal DNA for confirmation of the results. RESULTS: Because of an intragenic recombination of the DMD gene in foetal DNA, haplotype analysis gave inconclusive results. Semiquantitative PCR analysis displayed a pattern compatible with a heterozygous exon 60 mutation in the mother's DNA, while foetal DNA showed a normal migration pattern. Sequencing analysis confirmed the presence of a novel 7 base-pair deletion in exon 60 of the DMD gene in the mother and excluded the deletion in the foetus. CONCLUSION: Semiquantitative PCR results allowed the DMD mutation detection in the mother and the exclusion in the foetus, showing its crucial importance in prenatal diagnosis in those cases where linkage analysis is not conclusive.     

Use of the diagnostic criteria for psychosomatic research in oncology

BACKGROUND: Psycho-oncology literature has shown that 30-50% of cancer patients meet the criteria for a psychiatric diagnosis, according to the usual nosographic classification (e.g. DSM). The Diagnostic Criteria for Psychosomatic Research (DCPR) have been shown to be useful in identifying psychological constellations in patients with medical illness. The aims of the study were to compare the DSM-IV and the DCPR in their application to cancer patients. METHOD: One hundred and forty-six patients with cancer underwent semistructured interviews to assess psychiatric morbidity and psychosocial syndromes according to the DSM-IV and the DCPR, respectively. The Brief Symptom Inventory (BSI) was also used to assess psychological stress symptoms. RESULTS: Sixty-five subjects (44.5%) met the criteria for a DSM-IV diagnosis (DSM cases), while 104 patients (71.2%) presented symptoms meeting the criteria for at least one DCPR syndrome. Three DCPR dimensions were more frequent than others, specifically Health Anxiety (37.7%), Demoralization (28.8%) and Alexithymia (26%). Among the subjects with no formal DSM-IV diagnosis (n = 81), 58% had at least one DCPR syndrome. DSM-IV cases had higher scores on several BSI subscales in comparison with patients with only one DCPR syndrome, while no difference was found in patients with more than one DCPR diagnosis. CONCLUSIONS: The DCPR system was found to be useful in oncology in investigating psychological conditions which are not identified by the DSM-IV alone. Assessment of more specific constructs, other than intensity of general stress symptoms, may give more specific information and help in tailoring psychological intervention for patients with cancer.     

Right intrahepatic pseudocyst following acute pancreatitis: an unusual location after acute pancreatitis

The location of a pseudocyst (PC) in the liver is an exceptional event, and intrahepatic PCs are mainly located in the left lobe. We report here a case of right intrahepatic PC following acute pancreatitis associated with cystic (aberrant pancreatic) dystrophy of the duodenal wall (CDDW) and chronic pancreatitis. Morphological assessment (ultrasound, computed tomography [CT] scan, and cholangio-magnetic resonance imaging [MRI]) revealed a 10-cm right intrahepatic collection and rupture of the main pancreatic duct. Percutaneous puncture permitted us to detect a high level of amylase in the collection, confirming the diagnosis of intrahepatic PC. Surgical drainage concomitant with pancreatico-duodenectomy for the treatment of CDDW resulted in disappearance of the collection. The mechanism involved in this patient was rupture of the pancreatic duct in the retroperitoneal cavity and erosion reaching the right hepatic parenchyma. Although intrahepatic PCs are rare, the diagnosis of intrahepatic PC complicating acute pancreatitis can be confirmed by a high level of amylase in the collection. Asymptomatic intrahepatic PCs can be treated conservatively, and symptomatic intrahepatic PCs can be managed either transcutaneously or surgically.     

Relationship of small airway chymase-positive mast cells and lung function in severe asthma

Distal lung inflammation may be important in asthma pathophysiology. The goal of this study was to measure cellular inflammation in the large airway and four distal lung regions (small airway inner and outer wall, alveolar attachments, and peripheral alveolar tissue) and to correlate the specific inflammatory cells with several lung function parameters. Sections of concurrently obtained endobronchial and transbronchial/surgical biopsy tissue from 20 individuals with severe asthma were immunostained for T-lymphocyte, eosinophil, monocyte/macrophage, neutrophil, and two mast cell markers (tryptase and chymase). Specific cell distributions were determined and correlated with lung function measures. The number of inflammatory cells generally increased toward the periphery, but the percentage of T-lymphocytes, eosinophils, monocytes/macrophages, and neutrophils remained similar or decreased from large to small airways. In contrast, mast cell number, percentage, and the chymase-positive phenotype increased in small airway regions. After the analysis was adjusted for multiple comparisons, only chymase-positive mast cells significantly and positively correlated with lung function. Such a relationship was seen only in the small airway/alveolar attachments lung region (r(s) = 0.61-0.89; p 相似文献   

A tailored regimen including capecitabine and oxaliplatin for treating elderly patients with metastatic colorectal carcinoma Southern Italy Cooperative Oncology Group trial 0108

From September 2001 to November 2002, 35 patients aged 70-81 (median, 75) years, with measurable metastatic lesions from colorectal carcinoma, were treated with a combination of oxaliplatin (OXA) infused i.v. over 2 h on day 1, and capecitabine, assumed orally twice a day (12-h apart) from day 2 to day 15. An alternated dose escalation for both drugs was planned over the first three cycles for each patient, in the absence of WHO grade > or =2 toxicity on previous cycle: starting doses were 85 mg/m2 for OXA, and 2000 mg/m2 (day) for capecitabine on first cycle; on second cycle, OXA was planned at 100mg/m2, while capecitabine was planned at 2500 mg/(m2 day) on third cycle. Treatment was repeated every 3 weeks until progression, or for a maximum of 12 cycles. A total of 212 cycles were administered, with a median of 6 (range, 1-12) cycles/patient. Dose escalation was performed in 18 (51%) patients for OXA, and in 4 (11%) patients for capecitabine. No grade 4, and 10 (29%) cases of grade 3 toxicity of any type were reported. Abdominal symptoms (pain, nausea, or vomiting) affected 66% of patients, but they were of grade 3 in only 2 (6%) patients. Grade 3 diarrhoea occurred in 3 (9%) patients. Two complete and 12 partial responses (PR) were reported, for an overall response rate of 40% (95% CI, 24-58%). Progression of disease occurred in 23 (66%) patients, and 18 (51%) died. The actuarial median progression-free and survival time were 6.9 and 14.1 months, respectively.     

Localisation of heme oxygenase isoforms in allergic human nasal mucosa

Carbon monoxide (CO) is an endogenously produced gas mediator produced by heme oxygenase (HO). Like nitric oxide (NO), CO is produced in the nasal mucosa. Given that induced NO synthase (iNOS) expression in nasal mucosa has been found to be up-regulated in allergic rhinitis, the current study investigated the expression of HO isoforms in allergic human nasal mucosa. Immunohistochemical staining for type 1 and 2 HO isoforms were carried out in nasal inferior turbinate mucosa from six patients with persistent allergic rhinitis, and compared with six control patients without nasal allergy. Focal and weak expression of HO-1 was observed in seromucous glands, with no difference between allergic and control specimens. Vascular endothelium, erythrocytes, smooth muscle and inflammatory cells (except macrophages) in the allergic group exhibited stronger HO-1 immunoreactivity compared to the control. Minimal expression was found in the respiratory epithelium in either group. Intravascular HO-1 expression was found in the allergic mucosa only. Intense HO-2 immunoreactivity was observed in the respiratory epithelium, vascular endothelium and seromucous glands in both allergic and control groups with no differences in intensity. In conclusion, unlike iNOS, HO-1 is minimally expressed in the nasal respiratory epithelium of either group. However, our findings suggest that it may be involved in the inflammatory process of allergic rhinitis at the submucosal level.     

Team work in a family health care program: the team process concept and operational teams

This work is a theoretical revision of team work in a family Health Care Program. We define team work in the health care field as a relationship network among people, power, knowledge, affection, and wishes, when there is a possibility of identifying group processes. We deal with concepts of Operational Group from the Argentinean School, which might help health professionals to get training in team work. We have visible (spoken) and invisible (unspoken) tasks within teams, which are modified and need to be combined and known. Communication, learning, the feeling of belonging, the atmosphere, the actions' pertinence for the team's purpose and power relations may help the team to get to know and analyze each other and to build a team. External supervision may help the team to turn itself into an operational team, working towards a life care project.