Imperforate hymen: undiagnosed at birth, surgical emergency in adolescence

Imperforate hymen is a malformation that is easy to diagnose, even in countries with limited health care coverage. Unrecognized at birth, it becomes evident at puberty because of the development of a hematocolpos, which requires surgical intervention. This situation can be avoided with a complete examination of the infant at birth. This case report describes four patients whom we saw from 1995 through 2001 at the Bangui (Central African Republic) Pediatric Center and Community Hospital.     

Severe acute respiratory syndrome: temporal lung changes at thin-section CT in 30 patients

PURPOSE: To evaluate lung abnormalities on serial thin-section computed tomographic (CT) scans in patients with severe acute respiratory syndrome (SARS) during acute and convalescent periods. MATERIALS AND METHODS: Serial thin-section CT scans in 30 patients (17 men, aged 42.5 years +/- 12.2 [SD]) with SARS were reviewed by two radiologists together for predominant patterns of lung abnormalities: ground-glass opacities, ground-glass opacities with superimposed linear opacities, consolidation, reticular pattern, and mixed pattern (consolidation, ground-glass opacities, and reticular pattern). Scans were classified according to duration in weeks after symptom onset. Longitudinal changes of specific abnormalities were documented in 17 patients with serial scans obtained during 3 weeks. Each lung was divided into three zones; each zone was evaluated for percentage of lung involvement. Summation of scores from all six lung zones provided overall CT score (maximal CT score, 24). RESULTS: Median CT scores increased from 1 in the 1st week to 12.5 in the 2nd week. Ground-glass opacities with or without smooth interlobular septal thickening and consolidation were predominant patterns found during the 1st week. Ground-glass opacities with superimposed irregular reticular opacities, mixed pattern, and reticular opacities were noted from the 2nd week and peaked at or after the 4th week. After the 4th week, 12 (55%) of 22 patients had irregular linear opacities with or without associated ground-glass opacities and CT scores greater than 5; five of these patients had bronchial dilatation. When specific opacities were analyzed in 17 patients, consolidation generally resolved completely (n = 4) or to minimal residual opacities; six (55%) of 11 patients with ground-glass opacities had substantial residual disease (CT scores > 5) on final scans. CONCLUSION: There is a temporal pattern of lung abnormalities at thin-section CT in SARS. Predominant findings at presentation are ground-glass opacities and consolidation. Reticulation is evident after the 2nd week and persists in half of all patients evaluated after 4 weeks. Long-term follow-up is required to determine whether the reticulation represents irreversible fibrosis.     

Hybrid constructs for craniofacial reconstruction: sustained gene delivery using demineralized bone matrix putty

These experiments evaluate the efficacy of a demineralized bone matrix putty engineered as a hybrid construct for sustained, site-directed gene transfer using an adenoviral vector. In vitro experiments were performed to evaluate the optimal dosing for gene transfer to fetal calvarial osteoblasts and dural cells and for the sustainability of gene transfer from the hybrid constructs. In the dosing experiments, hybrid constructs were created by combining 0.5 mL of demineralized bone matrix putty (DBX; SYNTHES Maxillofacial, Monument, CO) with 1 x 10(8), 1 x 10(7), or 1 x 10(6) particle-forming units (PFU) of an adenoviral vector carrying the gene encoding green fluorescent protein (AdGFP). These constructs were then placed in direct contact, or in transwell coculture, with fetal murine calvarial osteoblasts or dural cells at a multiplicity of infection (MOI = viral particle/cell ratio) of 1000, 100, and 10. The sustainability of gene transfer was tested through transfer of the hybrid construct to wells containing untransfected cells every 24 hours for 30 days. In both experiments, gene transfer was determined through the visualization of GFP using fluorescence light microscopy 24 hours after the onset of transfection. Optimal dosing for gene transfer occurred at an MOI of 10 for calvarial osteoblasts and 100 for dural cells. At greater concentrations, toxicity was observed in the majority of samples. Gene transfer to fetal dural cells and calvarial osteoblasts was sustained throughout the 30-day period. These experiments suggest that adenoviral vectors could be successfully incorporated within demineralized bone matrix to provide effective, sustained, site-directed gene transfer.     

Parathyroid carcinoma: a multicenter review of clinicopathologic features and treatment outcomes

We conducted a retrospective study of 13 patients with parathyroid carcinoma to assess their clinical characteristics and surgical outcomes. Study parameters included patient demographics, survival, treatment response, and recurrence. We found that all patients who had undergone local tumor excision developed a recurrence, compared with only 33% of those available for follow-up after en bloc tumor resection. Based on these findings, we recommend en bloc tumor resection as the initial treatment of choice for patients diagnosed with parathyroid carcinoma.     

Metric variation among geographic populations of the Chagas vector Triatoma dimidiata (Hemiptera: Reduviidae: Triatominae) and related species

Eight Triatoma dimidiata populations from different geographic regions were compared along with related species using traditional morphometry of head characters. A method for removing allometric change was used for the intraspecific comparisons, and scaling for the isometric change of size was used for the interspecific comparisons. The intraspecific comparison showed significant head shape differences between T. dimidiata populations correlating with geography, showing a separation between the northern, intermediate, and southern collections (more evident in females), and supporting the idea that this species includes several evolutionarily divergent populations. The positioning of one sylvatic group from Guatemala did not correlate with geography, because it was more closely related to a distinct population of Colombia. This sylvatic group was found in caves, while the Colombian specimens, although collected in houses, may have migrated from nearby caves. Evolutionary and/or ecological influences could be responsible for the head shape similarities between these two groups: a common ancestral origin of both populations or a morphological convergence caused by similar environmental pressures. The interspecific comparisons included four other regional species of the same genus, three of them belonging to the phyllosoma complex (T. pallidipennis, T. mexicana, and T. ryckmani, the latter provisionally) and the fourth one classified in the protracta complex (T. nitida). Both complexes were readily separated by their head dimensions, even after size adjustment, and our data support inclusion of T. dimidiata within the phyllosoma complex.     

Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening

BACKGROUND: Newborn screening for deficiency in the lysosomal enzymes that cause Fabry, Gaucher, Krabbe, Niemann-Pick A/B, and Pompe diseases is warranted because treatment for these syndromes is now available or anticipated in the near feature. We describe a multiplex screening method for all five lysosomal enzymes that uses newborn-screening cards containing dried blood spots as the enzyme source. METHODS: We used a cassette of substrates and internal standards to directly quantify the enzymatic activities, and tandem mass spectrometry for enzymatic product detection. Rehydrated dried blood spots were incubated with the enzyme substrates. We used liquid-liquid extraction followed by solid-phase extraction with silica gel to remove buffer components. Acarbose served as inhibitor of an interfering acid alpha-glucosidase present in neutrophils, which allowed the lysosomal enzyme implicated in Pompe disease to be selectively analyzed. RESULTS: We analyzed dried blood spots from 5 patients with Gaucher, 5 with Niemann-Pick A/B, 11 with Pompe, 5 with Fabry, and 12 with Krabbe disease, and in all cases the enzyme activities were below the minimum activities measured in a collection of heterozygous carriers and healthy noncarrier individuals. The enzyme activities measured in 5-9 heterozygous carriers were approximately one-half those measured with 15-32 healthy individuals, but there was partial overlap of each condition between the data sets for carriers and healthy individuals. CONCLUSION: For all five diseases, the affected individuals were detected. The assay can be readily automated, and the anticipated reagent and supply costs are well within the budget limits of newborn-screening centers.