Randomized comparison of power Doppler ultrasonography-guided core-needle biopsy with open surgical biopsy for the characterization of lymphadenopathies in patients with suspected lymphoma.

The sensitivity of lymph node core-needle biopsy under imaging guidance requires validation. We employed power Doppler ultrasonography (PDUS) to select the lymph node most suspected of malignancy and to histologically characterize it through the use of large cutting needle. Institutional review board approval and informed consent were obtained for this randomized clinical trial. In a single center between 1 January 2009 and 31 December 2015, patients with lymph node enlargement suspected for lymphoma were randomly assigned (1:1) to biopsy with either standard surgery or PDUS-guided 16-gauge modified Menghini needle. The primary endpoint was the superiority of sensitivity for the diagnosis of malignancy for core-needle cutting biopsy (CNCB). Secondary endpoints were times to biopsy, complications, and costs. A total of 376 patients were randomized into the two arms and received allocated biopsy. However, four patients undergoing CNCB were excluded for inadequate samples; thus, 372 patients were analyzed. Sensitivity for the detection of malignancy was significantly better for PDUS-guided CNCB [98.8%; 95% confidence interval (CI), 95.9-99.9] than standard biopsy (88.7%; 95% CI, 82.9-93; P < 0.001). For all secondary endpoints, the comparison was significantly disadvantageous for conventional approach. In particular, estimated cost per biopsy performed with standard surgery was 24-fold higher compared with that performed with CNCB. The presence of satellite enlarged reactive and/or necrotic lymph nodes may impair the success of an open surgical biopsy (OSB). PDUS and CNCB with adequate gauge are diagnostic tools that enable effective, safe, fast, and low-cost routine biopsy for patients with suspected lymphoma, avoiding psychological and physical pain of an unnecessary surgical intervention.

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

OBJECTIVE: To clarify the genotype-phenotype correlation and elucidate the role of digenic inheritance in cystinuria. METHODS: 164 probands from the International Cystinuria Consortium were screened for mutations in SLC3A1 (type A) and SLC7A9 (type B) and classified on the basis of urine excretion of cystine and dibasic amino acids by obligate heterozygotes into 37 type I (silent heterozygotes), 46 type non-I (hyperexcretor heterozygotes), 14 mixed, and 67 untyped probands. RESULTS: Mutations were identified in 97% of the probands, representing 282 alleles (86.8%). Forty new mutations were identified: 24 in SLC3A1 and 16 in SLC7A9. Type A heterozygotes showed phenotype I, but mutation DupE5-E9 showed phenotype non-I in some heterozygotes. Type B heterozygotes showed phenotype non-I, with the exception of 10 type B mutations which showed phenotype I in some heterozygotes. Thus most type I probands carried type A mutations and all type non-I probands carried type B mutations. Types B and A mutations contributed to mixed type, BB being the most representative genotype. Two mixed cystinuria families transmitted mutations in both genes: double compound heterozygotes (type AB) had greater aminoaciduria than single heterozygotes in their family. CONCLUSIONS: Digenic inheritance is an exception (two of 164 families), with a limited contribution to the aminoaciduria values (partial phenotype) in cystinuria. Further mutational analysis could focus on one of the two genes (SLC3A1 preferentially for type I and SLC7A9 for type non-I probands), while for mixed probands analysis of both genes might be required, with priority given to SLC7A9.

Relational verbal memory processing in patients with temporal lobe epilepsy.

Patients with left temporal lobe epilepsy (LTLE) have been shown to demonstrate impaired categorization in semantic memory tasks leaving open the question whether this is due to problems with active categorization or to problems with consolidation/retrieval of relations. 35 patients with left or right temporal lobe epilepsy (LTLE, RTLE) and 20 healthy controls performed three verbal learning and memory tests differing in the relational distance between the items to be learned (unrelated, low associative, high associative). In order to separate the memory component in relational memory processing, we avoided problems in active categorization and perception of semantic relations by presenting category members already clustered in the order of category membership, and by checking whether the patients had actually noticed the categories. In controls and in patients with RTLE, both semantic conditions significantly improved the test performance. LTLE-patients showed the worst test performance independent of the test condition. Their performance improved under the high associative condition, but they did not at all profit from the low associative condition. Although the semantic tasks had no demand on active clustering and although all LTLE-patients noticed the relational properties very well, they could not make use of the offered clusters. They demonstrated significantly more "item specific" than "relational" encoding than the other groups. This was pronounced in the low associative condition but became evident also in the high associative condition. In contrast to the other groups, the order in recall (clustering) deteriorated with passing time in LTLE-patients. In conclusion the data provide evidence of impaired semantic relational processing in LTLE. The impairment depends on the relational properties of the material to be learned, in that it increases with the relational distance between the memory contents. Because the tasks did not demand active clustering, we can attribute this impairment to deficits in relational encoding/retrieval which would be consistent with current opinions of the role of temporolimbic structures in relational memory processing.