HIV-2 Encephalitis: Case Report and Literature Review

We report the case of a 59-year-old man who moved from Cape Verde to Massachusetts at the age of 29. He had multiple sexual contacts with female partners in Cape Verde and with West African women in Massachusetts, as well as multiple past indeterminate HIV-1 antibody tests. He presented to our facility with 2–3 months of inappropriate behaviors, memory impairment, weight loss, and night sweats, at which time he was found to have an abnormal enhancing lesion of the corpus collosum on brain magnetic resonance imaging (MRI). Laboratory testing revealed a CD4 count of $63 cells/mm^3$, positive HIV-2 Western blot, serum HIV-2 RNA polymerase chain reaction (PCR) of 1160 copies per milliliter and cerebrospinal fluid (CSF) HIV-2 RNA PCR of 2730 copies per milliliter. Brain biopsy demonstrated syncytial giant cells centered around small blood vessels and accompanied by microglia, which correlated with prior pathologic descriptions of HIV-2 encephalitis and with well-described findings of HIV-1 encephalitis. Based on genotype resistance assay results, treatment guidelines, and prior studies validating success with lopinavir-ritonavir, he was treated with tenofovir-emtricitabine and lopinavir-ritonavir, which has led to virologic suppression along with steady neurologic and radiologic improvement, although he continues to have deficits

Valores hematológicos de morcegos hematófagos Desmodus rotundus (E. Geoffroy, 1810) mantidos em cativeiro

Hematological values from captive vampire bats Desmodus rotundus (E. Geoffroy, 1810). Desmodus rotundus is one of the hematophagous bat species that are responsible for significant losses to livestock and has important involvement on public health. The great interest on this bat species made it becomes the target of many investigations a required its maintenance in laboratories. Similarly to others mammals, hematological evaluation has been utilized to assess the health and morbidity state of bats, however there are scarce studies with captive bats. The aim of this study was to investigate the hypothesis that is possible to feed the vampire bat D. rotundus with frozen blood treated with citrate during a long captivity period without hematological dyscrasias. Therefore, complete blood count was performed monthly from 15 adult females kept for 345 days in cages and fed with frozen blood added to citrate. The erythrocyte concentration (9.02 ± 1.43 x1012/L), PCV (0.47 ± 0.08 L/L) and hemoglobin (163.9 ± 31.5 g/L) obtained from free-living bats (immediately after capture) were lower or similar to those obtained after 345 days of captivity, presenting erythrocytes’ count of 11.01 ± 0.82 x1012/L, packed cell volume of 0.50 ± 0.05 L/L and hemoglobin level of 158 ± 10.1 g/L. The total white blood cell (11.09 ± 6.07 x109 /L) and segmented neutrophil counts (9.85 ± 3.5 x109 /L) of free living D. rotundus decreased significantly after 345 days of captivity, with values of 3.98 ± 1.98 and 1.87 ± 978.6 x109 /L respectively, which are similar to bats from temperate regions in hibernation period. This study proved that is possible to feed D. rotundus for long periods of captivity with citrated blood without the occurrence of anemia, erythrocyte or other hematologic dyscrasiaDesmodus rotundus é a espécie de quiróptero hematófago responsável por significativos prejuízos à pecuária e à saúde pública. O grande interesse sobre esta espécie tornou-a alvo de muitas investigações que exigem sua manutenção em laboratórios. Assim como em outros mamíferos, a avaliação hematológica tem sido utilizada para avaliar o estado de higidez e de morbidade dos quirópteros, porém são escassos os estudos com quirópteros mantidos em cativeiro. O presente estudo teve como objetivo investigar a hipótese de que é possível alimentar morcegos hematófagos D. rotundus com sangue citratado congelado por longo período em cativeiro sem que ocorra discrasias hematológicas. Para tal, realizou-se mensalmente o hemograma completo de 15 fêmeas adultas mantidas por 345 dias em gaiolas e alimentadas com sangue total citratado congelado. A concentração de eritrócitos (9,02 ± 1,43 x1012/L), volume globular (0,47 ± 0,08 L/L) e hemoglobina (163,9 ± 31,5 g/L) obtidos dos morcegos de vida livre (logo após a captura) foram menores ou similares aos dos obtidos após 345 de cativeiro, com valores de hemácias 11,01 ± 0,82 x1012/L, VG de 0,50 ± 0,05 L/L e hemoglobina de 158 ± 10,1 g/L. A contagem total de leucócitos (11,09 ± 6,07 x109 /L) e segmentados (9,85 ± 3,5 x109 /L) de D. rotundus de vida livre baixaram significativamente após 345 dias de cativeiro, chegando a valores de 3,98 ± 1,98 e 1,87 ± 978,6 x109 /L respectivamente, tornando-se semelhantes aos de morcegos de clima temperado sob hibernação. Foi comprovado que é possível manter o D. rotundus alimentados por longo período com sangue citratado sem que ocorra anemia, eritrócito ou qualquer outra discrasia hematológica

Fatal Eastern Equine Encephalitis in a Patient on Maintenance Rituximab: A Case Report

Abstract A 63-year-old woman on rituximab maintenance for follicular lymphoma presented with headaches, vomiting, and fever, and was diagnosed with eastern equine encephalomyelitis by cerebrospinal fluid polymerase chain reaction. Eastern equine encephalomyelitis immunoglobulin (Ig)G/IgM remained negative due to rituximab treatment, and magnetic resonance imaging showed minimal abnormalities, making this a diagnostically challenging case. Despite therapy with intravenous Ig, the patient rapidly declined and died on hospital day 12. Autopsy revealed perivascular and parenchymal chronic inflammation, with an absence of B lymphocytes, and virally infected neurons throughout the central nervous system

Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice

Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome associated with ribosomal protein (RP) gene mutations. Recent studies have also demonstrated an increased risk of cancer predisposition among DBA patients. In this study, we report the formation of soft tissue sarcoma in the Rpl5 and Rps24 heterozygous mice. Our observation suggests that even though one wild-type allele of the Rpl5 or Rps24 gene prevents anemia in these mice, it still predisposes them to cancer development

Expanding the Phenotype Associated With the NEFL

IMPORTANCE: Newer sequencing technologies in combination with traditional gene mapping techniques, such as linkage analysis, can help identify the genetic basis of disease for patients with rare disorders of uncertain etiology. This approach may expand the phenotypic spectrum of disease associated with those genetic mutations. OBJECTIVE: To elucidate the molecular cause of a neuromuscular disease among a family in which 4 members, a mother and her 3 sons, were affected. DESIGN, SETTING, AND PARTICIPANTS: Two of 4 affected members manifested nemaline myopathy, a common subtype of congenital myopathy, while the other 2 had a nonspecific myopathy. Single-nucleotide polymorphism–based linkage analysis was performed on DNA samples from the 4 affected family members, and whole-genome sequencing was performed in the proband. Real-time quantitative reverse transcription–polymerase chain reaction, immunofluorescence, and Western blot analysis were performed on muscle biopsy specimens. MAIN OUTCOMES AND MEASURES: Whole-genome sequencing and linkage analysis identified a variant in a gene that explains the phenotype. RESULTS: We identified a novel neurofilament light polypeptide (NEFL) nonsense mutation in all affected members. NEFL mutations have been previously linked to Charcot-Marie-Tooth disease in humans. This led us to reevaluate the diagnosis, and we recognized that several of the findings, especially those related to the muscle biopsy specimens and electromyography, were consistent with a neurogenic disease. CONCLUSIONS AND RELEVANCE: NEFL mutations are known to cause Charcot-Marie-Tooth disease in humans and motor neuron disease in mice. We report the identification of an NEFL mutation in a family clinically manifesting congenital myopathy. We also describe potential overlap between myopathic and neurogenic findings in this family. These findings expand the phenotypic spectrum of diseases associated with NEFL mutations. This study is an example of the power of genomic approaches to identify potentially pathogenic mutations in unsuspected genes responsible for heterogeneous neuromuscular diseases