Diagnosing mucopolysaccharidosis IVA

Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of biochemical genetics laboratory directors and clinicians involved in the diagnosis of MPS IVA, convened by BioMarin Pharmaceutical Inc., met to develop recommendations for diagnosis. The following conclusions were reached. Due to the wide variation and subtleties of radiographic findings, imaging of multiple body regions is recommended. Urinary glycosaminoglycan analysis is particularly problematic for MPS IVA and it is strongly recommended to proceed to enzyme activity testing even if urine appears normal when there is clinical suspicion of MPS IVA. Enzyme activity testing of GALNS is essential in diagnosing MPS IVA. Additional analyses to confirm sample integrity and rule out MPS IVB, multiple sulfatase deficiency, and mucolipidoses types II/III are critical as part of enzyme activity testing. Leukocytes or cultured dermal fibroblasts are strongly recommended for enzyme activity testing to confirm screening results. Molecular testing may also be used to confirm the diagnosis in many patients. However, two known or probable causative mutations may not be identified in all cases of MPS IVA. A diagnostic testing algorithm is presented which attempts to streamline this complex testing process

Description Of A New Species Of Moenkhausia (characiformes, Characidae) From The Upper Rio Tapajós Basin, Brazil

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)A new species of Moenkhausia is described from the upper Rio Juruena, Rio Tapajós basin, Mato Grosso, Brazil. The new species is diagnosed from all congeners, except M. eurystaenia, M. heikoi, and M. phaeonota, by the presence of a dark, straight, broad stripe extending from the opercle to the middle caudal-fin rays. The new species can be distinguished from M. heikoi and M. phaeonota by having 18-20 branched anal-fin rays and from M. eurystaenia by having a narrow longitudinal dark line along the horizontal septum, starting at the vertical through the pelvic-fin origin. The presence of a conspicuous dark blotch on the ventral portion of the opercle and on the ventral portion of the vertical arm of the preopercle is also useful to distinguish the new species from most congeners. © 2016 by the American Society of Ichthyologists and Herpetologists.10412432492014/11911-7, FAPESP, São Paulo Research FoundationFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP

A new species of Hyphessobrycon Durbin (Characiformes: Characidae) from the middle rio Sao Francisco and upper and middle rio Tocantins basins, Brazil, with comments on its biogeographic history

A new species of Hyphessobrycon Durbin is described from tributaries of the rio Grande (rio Sao Francisco basin) draining east to the Serra Geral de Goias, of the rio Sao Domingos (upper rio Tocantins basin) and rio do Sono basins (middle rio Tocantins basin). Hyphessobrycon diastatos can be diagnosed from its congeners by the absence of humeral spot, 15-18 branched analfin rays, 1-3 maxillary conical to tricuspid teeth, a relatively well-defined dark caudal-peduncle spot, and elongation of dorsal- and anal-fin rays in mature males. The biogeographical significance of the distribution of the new species is evaluated and discussed.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP

A new species of Hyphessobrycon (characiformes: Characidae) from the upper Rio Juruena Basin, Central Brazil, with a redescription of h. Cyanotaenia

A new species of Hyphessobrycon is described from the Rio Papagaio, a tributary of the Rio Juruena, Rio Tapajos basin, Brazil. The new taxon can be distinguished from its congeners by having a well-defined and relatively narrow dark midlateral stripe on body extending from the upper half of the posterior margin of the eye to the middle caudal-fin rays, absence of a humeral blotch, 16-19 branched anal-fin rays, 2-4 maxillary teeth, six branched pelvic-fin rays, and the absence of dark pigmentation crossing the eye. Hyphessobrycon cyanotaenia, a species described from few specimens from the aquarium trade without precise locality, is redescribed herein based on extensive material, and its known distribution is discussed and rectified from the original description104125025