Towards compatibility of EUnetHTA JCA methodology and German HTA: a systematic comparison and recommendations from an industry perspective

The European Journal of Health Economics - The transferability of the EU joint clinical assessment (JCA) reports for pharmaceuticals for the German benefit assessment was evaluated by...     

The National Alliance for the Mentally Ill: A decade later

The National Alliance for the Mentally Ill (NAMI) was conceived a decade ago in the tradition of self-organized parents' groups for handicapped and chronically ill children. The character of the organization and its rapid growth are thought to be due to its clear identity as a mental illness group, its control and direction by parents and relatives of people suffering from mental illness, and its relationships with staff and professionals. The author believes that the NAMI movement is at an important juncture in its development and identifies factors that could influence its character in the next decade.     

Classification of clear-cell sarcoma as a subtype of melanoma by genomic profiling.

PURPOSE: To develop a genome-based classification scheme for clear-cell sarcoma (CCS), also known as melanoma of soft parts (MSP), which would have implications for diagnosis and treatment. This tumor displays characteristic features of soft tissue sarcoma (STS), including deep soft tissue primary location and a characteristic translocation, t(12;22)(q13;q12), involving EWS and ATF1 genes. CCS/MSP also has typical melanoma features, including immunoreactivity for S100 and HMB45, pigmentation, MITF-M expression, and a propensity for regional lymph node metastases. MATERIALS AND METHODS: RNA samples from 21 cell lines and 60 pathologically confirmed cases of STS, melanoma, and CCS/MSP were examined using the U95A GeneChip (Affymetrix, Santa Clara, CA). Hierarchical cluster analysis, principal component analysis, and support vector machine (SVM) analysis exploited genomic correlations within the data to classify CCS/MSP. RESULTS: Unsupervised analyses demonstrated a clear distinction between STS and melanoma and, furthermore, showed that CCS/MSP cluster with the melanomas as a distinct group. A supervised SVM learning approach further validated this finding and provided a user-independent approach to diagnosis. Genes of interest that discriminate CCS/MSP included those encoding melanocyte differentiation antigens, MITF, SOX10, ERBB3, and FGFR1. CONCLUSION: Gene expression profiles support the classification of CCS/MSP as a distinct genomic subtype of melanoma. Analysis of these gene profiles using the SVM may be an important diagnostic tool. Genomic analysis identified potential targets for the development of therapeutic strategies in the treatment of this disease.     

Pelvis-shoulder dysplasia

Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis. We present the long-term follow-up of a patient with this condition. This patient has severe pelvic dysplasia but no involvement of the scapulae or clavicles. Despite the severity of the pelvic dysplasia, this man is able to function well. This is the fifth case of pelvis-shoulder dysplasia reported, but the only one documenting follow-up into adulthood. Received: 16 July 1997 Accepted: 4 February 1998     

Experiences in the perinatal management of congenital diaphragmatic hernia during the last 15 years in a tertiary referral institute

OBJECTIVE: Review of cases of perinatally diagnosed congenital diaphragmatic hernias with special regard to time of diagnosis, organs herniated into the thorax, associated malformations, and outcomes. METHODS: We analyzed the data of 106 cases between July 1, 1990, and June 30, 2005. The observation period was analyzed in two parts. RESULTS: Prenatal ultrasound was performed in 89.6% (95/106) of the cases. 51.7% (46/89) of the pre- and postnatally verified congenital diaphragmatic hernia cases were diagnosed before the 24th week of gestation. 11% (11/100) of the hernias were identified postnatally. 71% (71/100) of the cases were associated with other malformations. The hernia was on the left side in 86% (86/100) and bilateral in 5% (5/100) of the cases. Between 1990 and 1997, the proportion of right-sided hernias was 4.3% (2/46), while during the second period it was 13% (7/54). 27.5% (14/51) of the newborns survived the perinatal period. The survival rate of the newborns delivered by caesarean section was three times higher than that of infants delivered vaginally. In the latter group, the rate of premature deliveries was considerably higher. The pregnancy was terminated in 45% (40/89) of the cases. 15% (6/40) of the terminated cases were isolated. Intrauterine or intrapartum deaths occurred in 5.6% (5/89) of the prenatally diagnosed cases. Simultaneous thoracic herniation of liver, spleen, or stomach decreased the survival rate. In these cases, the discharge rate was between 6 and 22%. CONCLUSIONS: According to the analysis of 15-year data, the herniated organs, multiple malformations, as well as the mode of delivery influence the survival in a large number of cases. Early diagnosis predicts a large hernia, a higher malformation rate, and a less favourable prognosis.     

Vererbung, Konstitution

Ohne Zusammenfassung     

The impact of traumatic brain injury on family members living with patients: a preliminary study in Japan and the UK

Purpose: To ascertain the views of families living with TBI patients about the nature of the problems experienced as a result of TBI, and to compare the views of Japanese family members (J-FM) and British family members (B-FM) in order to find out whether there were cultural differences in family response to TBI. Methods: Family members involved in providing care were identified by the patients. Face to face interviews were conducted with all 18 carers in B-FM and four carers in J-FM. The remaining eight carers in J-FM participated in the postal questionnaire. Questionnaires were developed to explore the nature of problems and the involvement of family such as social embarrassment. Results: Problems arising in families were almost the same reported from both groups. However families in B-FM were likely to know more about how to cope with these problems. Family members in J-FM reported more statistically significant increases in social embarrassment than those in B-FM. Conclusion: The preliminary results showed that family members living with TBI patients in both groups had experienced problems. Appropriate rehabilitation services should be developed to help families as well as TBI patients in Japan.     

Intracranial meningeal melanocytoma associated with ipsilateral nevus of Ota. Case report

In this report, the authors review the case of a man with a neurocutaneous syndrome. He presented with an intracerebral melanocytoma associated with a blue nevus of the scalp; its location and its appearance during childhood supported the diagnosis of a nevus of Ota. Meningeal melanocytomas are increasingly being diagnosed, but remain rare. Primary meningeal malignant melanoma is the first differential diagnosis to eliminate. Despite their common embryonic origin. the association of a melanocytoma with a nevus of Ota is rare. A nevus of Ota exhibits the same melanocytic proliferation and affects the trigeminal nerve territory. An ocular effect is not always observed. In contrast to an ocular lesion, a nevus of Ota rarely transforms into a malignant melanoma. It is found only among caucasians. During 4 years of follow-up review after surgery, the patient remained asymptomatic. Other than antiepileptic therapy, he received no complementary treatment and cerebral imaging revealed no evidence of recurrence.     

Pneumothorax after left pneumonectomy: implantation of an intrapleural prosthesis

Postpneumonectomy syndrome is defined as an airway obstruction due to mediastinal shift and rotation after pneumonectomy. A patient who had undergone a left pneumonectomy for bronchial carcinoma 13 years before presented with tension pneumothorax of her remaining lung. Although all factors relevant to the development of postpneumonectomy syndrome were ascertained, the patient had a pneumothorax rather than an airway obstruction. This pneumothorax was treated surgically. The goal of this operation was to reduce the right pleural cavity volume by implanting an intrapleural prosthesis in the pneumonectomy cavity. This treatment is identical to that used for postpneumonectomy syndrome, which allows the right lung to be rejoined with the thoracic wall.