Comment on “Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands”

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands

Case Reports in Neurological Medicine ◽

10.1155/2019/5976410 ◽

2019 ◽

Vol 2019 ◽

pp. 1-4

Author(s):

Catarina Falcão de Campos ◽

Miguel Oliveira Santos ◽

Rafael Roque ◽

Isabel Conceição ◽

Mamede de Carvalho

Keyword(s):

Thymidine Phosphorylase ◽

Novel Mutation ◽

Positive Family History ◽

Autosomal Recessive Disorder ◽

Abdominal Distension ◽

Pathogenic Mutation ◽

Mitochondrial Neurogastrointestinal Encephalomyopathy ◽

Motor Disability ◽

Sensorimotor Polyneuropathy ◽

Gastrointestinal Dysmotility

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the gene encoding the Thymidine Phosphorylase (TP). It is clinically characterized by severe gastrointestinal dysmotility, cachexia, palpebral ptosis, ophthalmoparesis, sensorimotor polyneuropathy and leukoencephalopathy. The diagnosis is established by the presence of typical clinical and neuroimaging features, positive family history, and abnormal genetic test. A 19-year-old Cape Verdean patient with a history since childhood of recurrent episodes of nausea, vomiting, diarrhoea and painful abdominal distension associated with progressive motor disability with difficulty in climbing stairs and running and clumsiness with her hands. The diagnostic workup was suggestive of MNGIE. Genetic screening of the TYMP gene identified a novel mutation (c. 1283 G>A). Patients with MNGIE have significant comorbidity and mortality, and they are frequently misdiagnosed. A better acknowledgment of this disorder is essential to permit an earlier diagnosis and to improve disease management.

Evaluation of the essential oil composition of fruits of three endemic species of Tornabenea from Cape Verde Islands

Planta Medica ◽

10.1055/s-0029-1234416 ◽

2009 ◽

Vol 75 (09) ◽

Author(s):

C Grosso ◽

G Teixeira ◽

I Gomes ◽

ES Martins ◽

JG Barroso ◽

...

Keyword(s):

Essential Oil ◽

Endemic Species ◽

Essential Oil Composition ◽

Cape Verde ◽

Oil Composition ◽

Cape Verde Islands

Cetacean surveys in the Cape Verde Islands and the use of cookiecutter shark bite lesions as a population marker for fin whales

Aquatic Mammals ◽

10.1578/01675420360736569 ◽

2003 ◽

Vol 29 (3) ◽

pp. 383-389 ◽

Cited By ~ 10

Author(s):

Michael Moore ◽

Lisa Steiner ◽

Beatrice Jann

Keyword(s):

Cape Verde ◽

Cape Verde Islands ◽

Fin Whales ◽

Cookiecutter Shark

Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy

Case Medical Research ◽

10.31525/ct1-nct03866954 ◽

2019 ◽

Author(s):

Keyword(s):

Thymidine Phosphorylase ◽

Mitochondrial Neurogastrointestinal Encephalomyopathy

Status assessment of raptors in Cape Verde confirms a major crisis for scavengers

Oryx ◽

10.1017/s0030605310000682 ◽

2011 ◽

Vol 45 (2) ◽

pp. 217-224 ◽

Cited By ~ 8

Author(s):

Sabine M. Hille ◽

Nigel J. Collar

Keyword(s):

Present Status ◽

Cape Verde ◽

Cape Verde Islands ◽

Live Prey ◽

Status Assessment ◽

Local Extinctions ◽

Insular Populations

AbstractScavenging raptors have been postulated to be declining at a rate far higher than predatory raptors. To test this hypothesis we reviewed the historical and present status of the seven raptor species—three scavengers (two kites and a vulture), one partial scavenger (a buzzard) and three species (osprey and two falcons) that take live prey—that breed on the Cape Verde islands. Scavenging raptors have experienced steeper declines and more local extinctions than non-scavengers in Cape Verde, with the partial scavenger midway between the two groups. Causes of scavenger decline include incidental poisoning, direct persecution and declines in the availability of carcasses and other detritus. These findings, which highlight the conservation importance of the island of Santo Antão, indicate the priority that needs to be accorded to scavengers, particularly in Europe where many insular populations are reaching unsustainable levels.

Review of Cape Verde Pselactus Broun, 1886 (Coleoptera: Curculionidae: Cossoninae) with description of a new species, larvae and notes on biology

Zootaxa ◽

10.11646/zootaxa.4317.2.2 ◽

2017 ◽

Vol 4317 (2) ◽

pp. 225 ◽

Cited By ~ 2

Author(s):

JIŘÍ SKUHROVEC ◽

PETER HLAVÁČ ◽

JAN BATELKA

Keyword(s):

New Species ◽

Short Note ◽

Systematic Position ◽

Cape Verde ◽

Immature Stages ◽

Larval Morphology ◽

Cape Verde Islands ◽

Current State ◽

A New Species

The genus Pselactus in the Cape Verde Islands is reviewed. Pselactus obesulus (Wollaston, 1867) from São Vicente is redescribed and P. strakai sp. nov. from São Nicolau is described. Both species are diagnosed and illustrated; their larvae are described, larval morphology is discussed and the current state of knowledge about immature stages of Cossoninae is summarized. The systematic position of the genus within Onycholipini is reviewed, and the placement of genus in Cossoninae is discussed. A short note on biogeography of Pselactus is provided.

Embedding Papiamentu in the mixed language debate

Journal of Historical Linguistics ◽

10.1075/jhl.2.1.05jac ◽

2012 ◽

Vol 2 (1) ◽

pp. 52-82 ◽

Cited By ~ 4

Author(s):

Bart Jacobs

Keyword(s):

17Th Century ◽

Cape Verde ◽

Cape Verde Islands ◽

Guinea Bissau ◽

Mixed Language ◽

Basic Content ◽

Point Of Departure ◽

Mixed Languages ◽

Content Vocabulary

This paper takes as a point of departure the hypothesis that Papiamentu descends from Upper Guinea Portuguese Creole (a term covering the sister varieties of the Cape Verde Islands and Guinea-Bissau and Casamance), speakers of which arrived on Curaçao in the second half of the 17th century, subsequently shifted their basic content vocabulary towards Spanish, but maintained the original morphosyntax. This scenario raises the question of whether, in addition to being a creole, Papiamentu can be analyzed as a so-called mixed (or intertwined) language. The present paper positively answers this question by drawing parallels between (the emergence of) Papiamentu and recognized mixed languages.

Epibiotic Seaweeds of the Cape Verde Islands

Botanica Marina ◽

10.1515/botm.1992.35.5.379 ◽

1992 ◽

Vol 35 (5) ◽

Cited By ~ 3

Author(s):

J. Otero-Schmitt ◽

A. Sanjuan

Keyword(s):

Cape Verde ◽

Cape Verde Islands

History of the Birds of the Cape Verde Islands

Geographical Journal ◽

10.2307/1795612 ◽

1969 ◽

Vol 135 (1) ◽

pp. 105

Author(s):

Edward Hindle ◽

David A. Bannerman ◽

W. Mary Bannerman

Keyword(s):

Cape Verde ◽

Cape Verde Islands ◽

History Of

Thymidine phosphorylase is both a therapeutic and a suicide gene in a murine model of mitochondrial neurogastrointestinal encephalomyopathy

Gene Therapy ◽

10.1038/gt.2014.41 ◽

2014 ◽

Vol 21 (7) ◽

pp. 673-681 ◽

Cited By ~ 8

Author(s):

S López-Estévez ◽

G Ferrer ◽

J Torres-Torronteras ◽

M J Mansilla ◽

S Casacuberta-Serra ◽

...

Keyword(s):

Murine Model ◽

Thymidine Phosphorylase ◽

Suicide Gene ◽

Mitochondrial Neurogastrointestinal Encephalomyopathy