Long-term surgical results for congenital aural atresia

Thirty-nine primary surgical cases for correction of congenital aural atresia were reviewed for complications and long-term hearing results. Hearing averages of 25 dB for mild atresia, 40 dB for moderate atresia, and 46 dB for severe atresia were obtained. Serviceable hearing was achieved in 64% of the cases. The two most frequent complications were stenosis and recurrent infections of the cavity and canal skin, with an incidence of 33% and 31%, respectively. Use of split-thickness instead of full-thickness skin graft was associated with fewer complications. The goal of this review is also to share the experience of the senior author in the management of this complex problem.     

Opportunistic intracranial infection in AIDS detection by technetium-99m DTPA brain scintigraphy

Radionuclide brain scintigraphy and computed tomography (CT) demonstrated cerebral lesions in two patients with acquired immunodeficiency disease syndrome (AIDS) complicated by opportunistic infection of the brain. In the detection of these cerebral lesions, [99mTc]DTPA radionuclide scintigraphy was as reliable as CT. Since malignant lymphoma involving the brain has been seen with increasing frequency in patients with AIDS, the positive brain scan alone is nonspecific and should be correlated appropriately with the clinical setting.     

A Chinese adolescent girl with Fechtner-like syndrome

We describe a 15-y-old girl with Fechtner-like syndrome, who is the first Chinese reported to have this rare syndrome. She presented with left homonymous hemianopia and neuroimaging revealed haemorrhage in both parietal and occipital lobes. Peripheral blood smear showed macrothrombocytopenia and intracytoplasmic inclusion bodies inside leucocytes. Thrombocytopenia and proteinuria responded to intravenous immunoglobulin and pulsed methylprednisolone. This case illustrates that life-threatening haemorrhage can occur in patients with Fechtner syndrome. Although there was no effective treatment reported in the literature, high dose steroid and immunoglobulin seemed to be useful in our patient. Our patient also had nephritic-nephrotic syndrome with renal insufficiency, which is unusual in adolescent female patients.     

Occurrence of the t(2;5)(p23;q35) in non-Hodgkin's lymphoma

Primary CD30(Ki-1)-positive anaplastic large-cell lymphoma (ALCL) is considered by some to be a distinct clinicopathologic entity associated with the t(2;5) (p23;q35). However, the specificity of t(2;5) for ALCL has not been carefully studied. Therefore, we performed a detailed analysis of all cases of ALCL with abnormal cytogenetics results in the Nebraska Lymphoma Study Group registry, as well as all other cases of non-Hodgkin's lymphoma with t(2;5) in the registry. We found the t(2;5) in only five of 10 cases of ALCL, four of whom were young patients. However, we also found the t(2;5) in 11 other cases of nonanaplastic lymphoma, including eight children with typical peripheral T-cell lymphomas of various types. The t(2;5) was also found in three older adults with B-cell lymphomas of various types. Thus, the t(2;5) was not specific for CD30+ ALCL. However, t(2;5) may define a clinicopathologic entity in children and young adults characterized by variable morphologies with a T-cell or indeterminate phenotype, CD30-positivity, nodal disease with frequent extranodal involvement, advanced stage, and an excellent response to therapy, including bone marrow transplantation for relapsed disease. The clinical relevance of the t(2;5) in older patients requires further study.     

Structure and promoter organization of the human monoamine oxidase A and B genes.

Monoamine oxidase (MAO) A and B play an important role in regulating levels of biogenic amines. MAO A and B cDNAs have been cloned and the deduced amino acids share 73% sequence identity. The genes for MAOA and B are comprised of 15 exons interspersed by 14 introns, span at least 60 kb and exhibit identical exon-intron organization. These findings suggest that the MAOA and MAOB genes are derived from the duplication of a common ancestral gene. The core promoter region of MAOA is comprised of two 90 bp repeats, each of which contains two Spl elements and lacks a TATA box. The MAOB core promoter region contains two sets of overlapping Spl sites which flank a CACCC element all upstream of a TATA box. The different organization of the MAOA and MAOB promoters may underlie their different cell and tissue specific expression.