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1.
J Assoc Genet Technol ; 50(2): 69-73, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38824650

RESUMO

OBJECTIVES: Ring chromosome 14 is a rarely observed chromosomal abnormality characterized by a circular, ring-like appearance in one or both copies of chromosome 14. Ring chromosome 14 syndrome (OMIM #616606) is marked by global developmental delays, drug-resistant epilepsy, microcephaly, and ocular abnormalities. To date, fewer than 100 cases of ring chromosome 14 syndrome have been described in the medical literature. We describe a case of ring chromosome 14 and its clinical presentation in a 10-year-old female, adding to the literature about this rare condition.

3.
J Assoc Genet Technol ; 48(4): 173-175, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36469947

RESUMO

OBJECTIVES: Cutaneous lymphoma is a broad term used to describe any type of lymphoma involving the skin. They may be primary, arising in the skin, or secondary, resulting from spread of a systemic lymphoma. Cutaneous involvement of mantle cell lymphoma (MCL) is extremely rare and most often occurs secondarily. To date, less than 100 cases of MCL involving the skin have been described in the English literature. We describe a case of MCL involving the skin as the clinical presentation of disease in a 74-year-old man and highlight the radiographic and pathologic findings, treatment course, and prognosis.

4.
Biosens Bioelectron ; 26(9): 3742-7, 2011 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-21493057

RESUMO

Yeast microbial fuel cells have received little attention to date. Yeast should be ideal MFC catalyst because they are robust, easily handled, mostly non-pathogenic organisms with high catabolic rates and in some cases a broad substrate spectrum. Here we show that the non-conventional yeast Arxula adeninvorans transfers electrons to an electrode through the secretion of a reduced molecule that is not detectable when washed cells are first resuspended but which accumulates rapidly in the extracellular environment. It is a single molecule that accumulates to a significant concentration. The occurrence of mediatorless electron transfer was first established in a conventional microbial fuel cell and that phenomenon was further investigated by a number of techniques. Cyclic voltammetry (CV) on a yeast pellet shows a single peak at 450 mV, a scan rate study showed that the peak was due to a solution species. CVs of the supernatant confirmed a solution species. It appears that, given its other attributes, A. adeninivorans is a good candidate for further investigation as a MFC catalyst.


Assuntos
Fontes de Energia Bioelétrica , Técnicas Biossensoriais , Saccharomycetales/química , Catálise , Transporte de Elétrons
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