A variant chronic B-cell lymphoma characterized by villous cells with novel immunophenotypic and cytogenetic profiles.

The less common chronic B-cell lymphomas include hairy cell leukemia, hairy cell leukemia variant and splenic lymphoma with villous lymphocytes. These disease entities can sometimes cause a diagnostic dilemma; however, immunophenotypic markers have been identified as disease specific and scoring systems have been proposed to assist the process. This study reports a case of a chronic B-cell lymphoma with long cytoplasmic projections which does not fit into any of the published disease categories based upon a combination of clinical and morphological features and immunophenotyping. Furthermore, this case featured a combination of cytogenetic abnormalities not previously described in the published literature in association with a B-cell lymphoproliferative disorder.

Partial deletion of chromosome 1 in a case of acute myelocytic leukemia.

Acute myelocytic leukemia (AML) is a malignant disease characterized by the proliferation of immature myelocytic precursor cells causing the disruption of normal bone marrow function. Many chromosomal aberrations have been described in AML including translocations, inversions, deletions, and additions. Here we describe a novel deletion of chromosome 1, del(1)(p34p36) in a case of AML, French-American-British classification M1, in a previously healthy 33-year-old male. This isolated cytogenetic abnormality occurred in 33% of the myeloblasts examined at diagnosis. Subsequent cytogenetic analyses conducted on marrow following induction and consolidation therapy demonstrated a normal male karyotype in all cells examined. The patient remains in clinical and hematological remission 22 months following diagnosis. The presence of 1p abnormalities in AML and other malignancies is reviewed, as are candidate tumor suppressor genes in the 1p34 approximately p36 region. The implications of chromosome 1p abnormalities on clinical outcome are also discussed.

Condition monitoring of rotary blood pumps.

Long-term, trouble-free operation of ventricular assist devices (VADs) is critical to the patient. A catastrophic failure of the VAD could cost the patient's life, thus defeating the purpose of the device. The targeted 90% 5 year reliability also implies that the average device life would exceed the 5 year limit. Time based explantation of the device after the fifth year will replace many devices with significant additional life, subject the patient to unnecessary surgical risk, and increase costs. To preclude the need for time based replacements and prevent catastrophic failures, a condition monitor is proposed in this article for early detection of faults in VADs. To develop this monitor, the effectiveness of various sensing and monitoring methods for determining the VAD condition is investigated. A Hemadyne pump was instrumented with a set of eight sensors, and a series of experiments were performed to record and analyze signals from the normal and abnormal pumps with five different faults. Statistical, spectral, envelope, and ensemble averaging analyses were performed to characterize changes in sensor signals due to faults. Experimental results indicate that statistical and frequency information from the acceleration and dynamic pressure signals can clearly detect and identify various VAD faults.

A new deletion of 18q23 with few typical features of the 18q- syndrome.

We report on a patient with a deletion of 18q23. At both 2 and 4 years of age, she displayed few of the facial features or other clinical features associated with the 18q- syndrome. Fluorescent in situ hybridisation and microsatellite marker and RFLP analysis were performed to characterise the extent of the deletion, and a terminal deletion of 18q23 was confirmed. The deleted region includes the gene for myelin basic protein, suggesting that hemizygosity of this gene does not invariably lead to mental and developmental delay. The clinical presentation of this patient suggests that either she is not deleted for the genes involved in the 18q- clinical phenotype or this patient represents one end of the spectrum of the clinical variability seen with 18q terminal deletions.

Hypertrichosis "cubiti" with facial asymmetry.

Hypertrichosis of the elbow region may be the only abnormality in hypertrichosis cubiti (hairy elbow syndrome). Only 6 cases have been reported; 2 Amish sibs also had additional short stature and, in the most recent case report, a patient had asymmetry of the face, generalized hypotonia, ptosis, epicanthic folds, highly arched palate, and delayed growth and development. The child reported here also had asymmetry of facial growth, ptosis, delayed speech development, and hypertrichosis in a patchy distribution which included the elbow regions, face, trunk, and thighs. There was no family history of hypertrichosis, and the karyotype of cultured fibroblasts was normal in the skin of an area of hypertrichosis. These patients appear to have a distinct condition compared to other hypertrichosis syndromes.