[Early diagnosis of infant hearing impairment after introduction of newborn hearing screening (UNHS)]. / Frühzeitige Diagnose kindlicher Hörstörung durch Einführung des Neugeborenen Hörscreenings (UNHS).

BACKGROUND: In 2009, the Federal Joint Committee (Gemeinsamer Bundesausschuss, G-BA) enacted to introduce the newborn hearing screening (NHS). The records of 11,155 children were analyzed with the aim to obtain data of the age at the time of determined diagnosis of childhood hearing impairment before and after introduction of the NHS. MATERIAL AND METHODS: The records of all children presented at our department between January 1, 2000, and December 31, 2009, based on suspected hearing impairment were evaluated. Additionally the data of 3,325 newborns were analyzed who had been screened between 2003 and 2010. The recorded data included the age at the time of determined diagnosis, the type and grade of hearing impairment of the different age groups, the start and type of rehabilitation, the incidence of consecutive control examinations. RESULTS: For the evaluation interval a total of 1,410 children with permanent hearing impairment could be identified. The mean age at the time of diagnosis was 64 months in 2000 and was reduced to 8.6 months in 2005. Between 2006 and 2009 the babies' mean age was 3.3 months at the time of diagnosis and after introduction of NHS in 2009, the mean age at the time of determined diagnosis was again reduced to 2.4 months. The part of diagnosed sensorineural hearing loss is higher than other hearing disturbances. CONCLUSION: The introduction of NHS verified to improve the early detection of childhood hearing impairment. The early diagnosis allows an early rehabilitation and makes a positive development of the children possible. However, children with permanent hearing impairment require continuous long-term care of competent specialists.

Chromosomal imbalances in brain metastases of solid tumors.

Metastases account for approximately 50% of the malignant tumors in the brain. In order to identify structural alterations that are associated with tumor dissemination into the central nervous system we used Comparative Genomic Hybridization (CGH) to investigate 42 brain metastases and 3 primary tumors of 40 patients. The metastases originated from lung cancer (14 cases), melanomas (7), carcinomas of breast (5), colon (5), kidney (5), adrenal gland (1) and thyroid (1). In addition, tumors of initially unknown primaries were assessed in 3 cases. The highest incidence of DNA gains were observed for the chromosomal regions 1q23, 8q24, 17q24-q25, 20q13 (>80% of cases) followed by the gain on 7p12 (77%). DNA losses were slightly less frequent with 4q22, 4q26, 5q21, 9p21 being affected in at least 70% of the cases followed by deletions at 17p12, 4q32q34, 10q21, 10q23-q24 and 18q21-q22 in 67.5% of cases. Two unusual narrow regional peaks were observed for the gain on 17q24-q25 and loss on 17p12. The incidence at individual loci can be viewed at our CGH online tumor database at http:// amba.charite.de/cgh/. The metastases of each tumor type showed a recurrent pattern of changes. In those cases with primary tumor and metastases available, the CGH pattern exhibited a high degree of conformity. In conclusion, our data suggests that specific genetic lesions are associated with tumor dissemination into the nervous system and that CGH analysis may be a useful supplementary tool for classification of metastases with unknown origin.

Patterns of chromosomal imbalances in adenocarcinoma and squamous cell carcinoma of the lung.

Comparative genomic hybridization was used to screen 25 adenocarcinomas and 25 squamous cell carcinomas of the lung for chromosomal imbalances. DNA copy number decreases common to both entities were observed on chromosomes 1p, 3p, 4q, 5q, 6q, 8p, 9p, 13q, 18q, and 21q. Similarly, DNA gains were observed for chromosomes 5p, 8q, 11q13, 16p, 17q, and 19q. Adenocarcinomas showed more frequently DNA overrepresentations of chromosome 1q and DNA losses on chromosomes 3q, 9q, 10p, and 19, whereas squamous cell carcinomas were characterized by increased overrepresentations of chromosome 3q and 12p as well as deletions of 2q. For the first time, we used a histogram representation and statistical analysis to evaluate the differences between both tumor groups. In particular, the overrepresentation of the chromosomal band 1q23 and the deletion at 9q22 were significantly associated with adenoid differentiation, whereas the DNA loss of chromosomal band 2q36-37 and the overrepresentations at 3q21-22 and 3q24-qter were statistically significant markers for the squamous cell type. The study strengthens the notion that different tumor subgroups of the respiratory tract are characterized by distinct patterns of chromosomal alterations.