Sickle cell disease is a common, life-threatening genetic disorder that is best managed when diagnosed early by newborn screening. However, sickle cell disease is most prevalent in low-resource regions of the world where newborn screening is rare and diagnosis at the point-of-care is challenging. In many such regions, the majority of affected children die, undiagnosed, before the age of five years. A rapid and affordable point-of-care test for sickle cell disease is needed. The diagnostic accuracy of HemoTypeSC, a point-of-care immunoassay, for sickle cell disease was evaluated in individuals who had sickle cell disease, hemoglobin C disease, the related carrier (trait) states, or a normal hemoglobin phenotype. Children and adults participated in low-, medium- and high-resource environments [Ghana (n=383), Martinique (n=46), and USA (n=158)]. Paired blood specimens were obtained for HemoTypeSC and a reference diagnostic assay. HemoTypeSC testing was performed at the site of blood collection, and the reference test was performed in a laboratory at each site. In 587 participants, across all study sites, HemoTypeSC had an overall sensitivity of 99.5% and specificity of 99.9% across all hemoglobin phenotypes. The test had 100% sensitivity and specificity for sickle cell anemia. Sensitivity and specificity for detection of normal and trait states were >99%. HemoTypeSC is an inexpensive (<$2 per test), accurate, and rapid point-of-care test that can be used in resource-limited regions with a high prevalence of sickle cell disease to provide timely diagnosis and support newborn screening programs.

Endoscopy is a valuable tool in the diagnosis and management of duodenal lesions and biliary strictures. We assessed the value of cytology in the evaluation of these lesions and analyzed the causes of discrepancy among clinical, histologic, and cytologic parameters. The study included 118 patients with duodenal ulcers, ampullary neoplasms, or biliary strictures who were examined between 1975 and 1995; 120 cytologic examinations were performed. The specimens included brushings of the duodenum (DB, n = 50), ampulla (AB, n = 32), and biliary ducts (BB, n = 38). Endoscopic biopsies performed concurrently included the duodenum (n = 37), the ampulla (n = 22), and the biliary ducts (n = 23). Comparison of cytologic and histologic results showed the following sensitivity and specificity: DB, 40% and 97%, respectively; AB, 100% each; BB, 75% and 93%, respectively. The DB, AB, and BB revealed malignant neoplasms in 2 of 5, 7 of 7, and 6Inflammatory, infectious, and neoplastic conditions affecting the biliary tract and duodenum, including the ampullary region, are amenable to evaluation by exfoliative and brush cytology. Endoscopic evaluation of the disease process is a critical approach to assessing the cause and complements the available radiologic techniques, particularly in cases of biliarytree disorders. In instances of obstructive jaundice, ultrasonography and computed tomography scan can establish the level of biliary stricture and may suggest a malignant nature, but the presence or of 8 cases, respectively. Twenty-three duodenal neoplasms were diagnosed by either modality and included 11 adenocarcinomas, 9 villous tumors, 2 metastatic renal cell carcinomas, and 1 large cell non-Hodgkin's lymphoma. Endoscopic brush cytology is an effective means of diagnosing ampullary neoplasms, and it complements tissue biopsy in cases of bile duct stricture. Location, predominance of tumor-induced stroma, an extramucosal growth pattern, sampling error, and interpretative experience influence the diagnostic evaluation. Cytologic diagnosis of an adenoma does not exclude an underlying malignant neoplasm in ampullary tumors. In some instances, it may be difficult to distinguish between villous tumors with severe dysplasia and adenocarcinomas by cytology alone.

A consensus optimal therapy for large-cell neuroendocrine carcinoma of the lung has not been achieved since this entity was proposed in 1991. Accumulation of clinical data and investigation, however, can be greatly impeded by erroneous cytological diagnosis, based on which treatment may be initiated. To avoid erroneous diagnoses, cytological criteria need to be defined. Twenty cases of fine-needle aspiration specimens with a diagnosis of neuroendocrine tumor by either cytology or follow-up histology were retrospectively reviewed for cytomorphologic features. Patients' clinical data were also reviewed. Three cytomorphologic patterns were identified for large-cell neuroendocrine carcinoma, i.e., nonsmall-cell-like, small-cell-like and, mixed nonsmall-cell-small-cell-like. Small-cell-like large-cell neuroendocrine carcinoma can be mistaken for small-cell carcinoma. The most important differential features between these two entities are nuclear size and perceptibility of nucleoli of tumor cells.

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A rapidly growing mycobacterium was isolated five times from blood cultures from a 6-year-old female patient with relapsed pre-B-cell acute lymphocytic leukemia. All five isolates had identical nucleotide sequences for the first 500 bp of the 16S rRNA gene, indicative of a single species. High-performance liquid chromatography analysis of mycolic acids indicated that the species was similar to Mycobacterium smegmatis. Sequence analysis of the 16S rRNA gene (1,455 bp) for one isolate demonstrated that the species was closely related to Mycobacterium diernhoferi. Based on the phenotypic features and phylogenetic analysis, it was concluded that the isolates represented a novel rapidly growing Mycobacterium species. The name "Mycobacterium hackensackense" is proposed for this unique strain, 147-0552 T , which was deposited in the American Type Culture Collection as ATCC BAA-823 T .By definition, rapidly growing mycobacteria (RGM) demonstrate visible growth on culture media within 7 days. The species of RGM capable of causing human infections are primarily of the Mycobacterium fortuitum group, the M. chelonae/M. abscessus group, and the M. smegmatis group. Some of the diseases caused by RGM include posttraumatic and postsurgical wound infections, bone and joint infections, catheter-related infections, postinjection abscesses, disseminated cutaneous disease, pulmonary disease, central nervous system disease, and cervical lymphadenitis. The most common mycobacterial pathogen associated with catheter infections is M. fortuitum. However, M. chelonae, M. abscessus, M. immunogenum, the M. smegmatis group, and M. mucogenicum have also been associated with catheter-related infections (4).Traditionally, clinical laboratory identification of RGM involved selected biochemical tests, pigmentation, and colony morphology. However, it has been shown that these methods lack sensitivity and can be influenced by phenotypic variability (13). The development of high-performance liquid chromatography (HPLC) analysis of cell wall-bound, species-specific mycolic acids (5) and nucleic acid-based technologies provided fast and accurate identification tests for Mycobacterium species. Additionally, 16S rRNA gene sequence analysis has been used to describe the phylogenetic relationships among mycobacterial species (12). In this report, a novel rapidly growing Mycobacterium species involved in a catheter-related mycobacteriosis of a young female patient with relapsed pre-B-cell acute lymphocytic leukemia is described. MATERIALS AND METHODSCase report. In May 2002, a 6-year-old female with relapsed pre-B-cell acute lymphocytic leukemia and a history of multiple previous infections was admitted at Hackensack University Medical Center for evaluation with a fever of 39.5°C. She was initially diagnosed in November 1997 and received chemotherapy (Pediatric Oncology Group [POG] protocol 9606), which was finished in July 2000. Chemotherapy (POG protocol 9411) was resumed for a bone marrow relapse, diagnosed in June 2001. Since then, the patient has had ...