The Tumut experiment – integrating demographic and genetic studies to unravel fragmentation effects: a case study of the native bush rat

2000 ◽  
pp. 173-202 ◽  
Author(s):  
David Lindenmayer ◽  
Rod Peakall
Keyword(s):  
Genetic Studies

Cerebral autosomo-dominant arteriopathy with subcortical infarctions and leukoencephalopathy

2021 ◽  
Vol 26 (5) ◽  
pp. 30-38
Author(s):  
E. A. Savchuk ◽  
E. P. Golubinskaya ◽  
T. N. Shcherbinina ◽  
G. Yu. Voronin ◽  
E. O. Savchuk ◽  
...  
Keyword(s):  
Clinical Case ◽  
Structural Changes ◽  
Light And Electron Microscopy ◽  
Joint Work ◽  
Genetic Studies ◽  
Small Vessels ◽  
Clinical Case Study ◽  
The Family ◽  
Probable Diagnosis

The article presents an analysis of the literature and a clinical case of a rare disease from the group of diseases of small vessels — cerebral autosomal dominant arteriopathy with subcortical infarction and leukoencephalopathy (CADASIL).It is based on the deposition of osmiophilic granulation material in vessels of small and medium caliber. A mutation in the NOTCH3 gene on chromosome 19p13 leads to significant structural changes in the walls of small arteries due to impaired differentiation and maturation of smooth muscle cells.CADASIL is characterized by four key symptoms: migraines, recurrent ischemic strokes, mental disorders, and cognitive decline. The clinical case study is presented from the standpoint of a multidisciplinary patient-oriented approach of joint work of neurologists and morphologists. On the basis of clinical and laboratory criteria, a probable diagnosis was made. To confirm it, a muscle biopsy was performed (a musculocutaneous flap from the inner surface of the thighs and forearms), in order to conduct light and electron microscopy. The details of the results of the morphological study, which made it possible to verify the patient’s diagnosis, are presented. Differential diagnostic judgments are presented and recommendations for genetic studies in the family, prognosis and treatment of the patient are given.

scholarly journals Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Inês Sobreira ◽  
Cátia Sousa ◽  
Ana Raposo ◽  
M. Rita Soares ◽  
Ana Soudo ◽  
...  
Keyword(s):  
Young Child ◽  
Male Child ◽  
Hereditary Neuropathy ◽  
Rare Entity ◽  
Genetic Studies ◽  
Left Hand ◽  
Pressure Palsy ◽  
Electrophysiological Studies ◽  
Pressure Palsies

Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of thePMP22gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis.

Formulating autism systemically: Part 1 – A review of the published literature and case assessments

2017 ◽  
Vol 22 (3) ◽  
pp. 378-389 ◽  
Author(s):  
Patricia M Crittenden
Keyword(s):  
Literature Review ◽  
Childhood Trauma ◽  
Reciprocal Relation ◽  
Close Attention ◽  
Genetic Studies ◽  
Neurological Differences ◽  
Unexpected Findings ◽  
Cultural Causes

Autism is a psychiatric disorder of unknown aetiology. In this article, the literature on genetic, neurological, psychological, relational and cultural causes of autism is reviewed, beginning with the 2014 review of Crittenden, Dallos, Landini et al. (pp. 64–70) up to and including recent publications in 2017. Some of the findings were unexpected; others led to new questions. The unexpected findings were the minimal contribution of genes to autism, the extremely evident neurological differences, the interpersonal quality of the psychological findings (that lacked evidence of parents’ behaviour), the relational evidence that mothers’ childhood trauma, perinatal stress and marital stress increased the risk of autism, and the reciprocal relation between funding for treatment of autism and diagnoses of autism. Notably, there was an abundance of genetic studies, numerous neurological studies and only scattered psychological, relational and cultural studies, thus rendering those findings speculative. The new questions included whether mothers used postural/gestural signs to signal their children to maintain distance and whether mothers experienced wariness of males as a result of childhood trauma, with their sons possibly experiencing gender confusion. Following the literature review, a small archival set of video-recorded and transcribed assessments of attachment of cases of autism were examined for evidence to corroborate or refute the psychological and relational findings of the literature review. The findings were striking in their support of mothers’ use of postural/gestural communication regarding distance, children’s close attention to mothers’ bodily signals, without looking at mothers’ face, mothers’ greater comfort when they approached their sons than when their sons approached them, one boy’s lack of verbal self-representation and mothers’ childhood triangulation. These became hypotheses regarding what to look for in Part 2 of this article, a prospective, 12-year case study.

Saving Species: The Co-Evolution of Tortoise Taxonomy and Conservation in the Galápagos Islands

2020 ◽  
Vol 25 (2) ◽  
pp. 263-286
Author(s):  
Elizabeth Hennessy
Keyword(s):  
Endangered Species ◽  
Science And Technology Studies ◽  
Science And Technology ◽  
First Person ◽  
Santa Cruz Island ◽  
Santa Cruz ◽  
Genetic Studies ◽  
Food Stores ◽  
Changing Practices

Abstract This article tells the stories behind the names of two species of Galápagos giant tortoise, Chelonoidis porteri and Chelonoidis donfaustoi, both of which inhabit Santa Cruz Island and which, until 2015, were considered one species, C. porteri. Taking a multispecies approach, it demonstrates how changing species designations reflect coevolving histories of science and conservation. Walter Rothschild assigned the name Testudo porteri in 1903 at a time when naturalists increasingly were concerned about the scarcity of animals they came to see as both endemic and endangered. Rothschild’s epithet honored US naval captain David Porter, the first person to write about differences among the Galápagos tortoises in the 1810s, which he noticed because his crews gathered tons of the animals as food stores for Pacific voyages. For Rothschild, saving species meant preserving them in his museum for the benefit of science before they were eaten. A century later, some of the C. porteri animals were renamed C. donfaustoi based on genetic studies of evolution and very different approaches to saving endangered species. This case study shows how nature, science, and conservation have coproduced species differently at different historical moments. By examining the changing practices through which species are enacted, this article outlines a framework by which environmental historians might productively engage with histories of science and science and technology studies to query just what species are, how they change, and with what consequences.

scholarly journals Genetic bottlenecks and successful biological invasions: the case of a recent Lessepsian migrant

2007 ◽  
Vol 3 (5) ◽  
pp. 541-545 ◽  
Author(s):  
Daniel Golani ◽  
Ernesto Azzurro ◽  
Maria Corsini-Foka ◽  
Manuela Falautano ◽  
Franco Andaloro ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Biological Invasions ◽  
Unified Theory ◽  
Ideal Case ◽  
Genetic Studies ◽  
Mitochondrial Haplotypes ◽  
Rapid Spread ◽  
Genetic Bottlenecks ◽  
The Mediterranean

Our current understanding of the mechanisms that lead to successful biological invasions is limited. Although adaptations play a central role in biological invasions, genetic studies have so far failed to produce a unified theory. The bluespotted cornetfish, a recent Red Sea invader in the Mediterranean Sea via the Suez Canal, provides an ideal case study for research in the mechanisms of invasive genetics. In this study, we show that the invading bluespotted cornetfish underwent a severe population bottleneck that reduced the genetic diversity of this immigrant to only two mitochondrial haplotypes. Although loss of genetic diversity is considered detrimental to the need to adapt to new environments, bluespotted cornetfish experienced an unprecedented success and rapid spread across the Mediterranean.

scholarly journals Genetics of a Lessepsian sprinter: the bluespotted cornetfish, Fistularia commersonii

2013 ◽  
Vol 59 (4) ◽  
pp. 181-185 ◽  
Author(s):  
Kimberly Tenggardjaja ◽  
Alexis Jackson ◽  
Frank Leon ◽  
Ernesto Azzurro ◽  
Daniel Golani ◽  
...  
Keyword(s):  
Biological Invasions ◽  
Red Sea ◽  
Mediterranean Population ◽  
Nuclear Markers ◽  
Genetic Studies ◽  
Show Evidence ◽  
Dispersal Capability ◽  
Males And Females ◽  
The Mediterranean

Our current understanding of the mechanisms that lead to successful biological invasions is limited. Although local adaptation plays a central role in biological invasions, genetic studies have failed to produce a unified theory so far. The bluespotted cornetfish, a recent invader of the Mediterranean Sea from the Red Sea via the Suez Canal, provides an ideal case study to research the mechanisms of invasive genetics. Previous genetic work based on mitochondrial markers has shown the genetic diversity of the Mediterranean population was greatly reduced in comparison to the natural population in the Red Sea. In the current study, we expand upon these studies by adding mitochondrial and nuclear markers. Mitochondrial results confirm previous findings. The nuclear marker, however, does not show evidence of reduction in diversity. We interpret these results as either a differential dispersal capability in males and females, or the presence of selection on the invading Mediterranean population.

The Genesis and Internal Dynamics of El Salvador's People's Revolutionary Army, 1970–1976

2014 ◽  
Vol 38 (01) ◽  
pp. 102-129
Author(s):  
ALBERTO MARTÍN ÁLVAREZ ◽  
EUDALD CORTINA ORERO
Keyword(s):  
Latin America ◽  
El Salvador ◽  
Early Years ◽  
Left Wing ◽  
Internal Dynamics ◽  
Internal Coherence ◽  
The 1960S

AbstractUsing interviews with former militants and previously unpublished documents, this article traces the genesis and internal dynamics of the Ejército Revolucionario del Pueblo (People's Revolutionary Army, ERP) in El Salvador during the early years of its existence (1970–6). This period was marked by the inability of the ERP to maintain internal coherence or any consensus on revolutionary strategy, which led to a series of splits and internal fights over control of the organisation. The evidence marshalled in this case study sheds new light on the origins of the armed Salvadorean Left and thus contributes to a wider understanding of the processes of formation and internal dynamics of armed left-wing groups that emerged from the 1960s onwards in Latin America.

Culture and the plasticity of perception

2020 ◽  
Vol 43 ◽  
Author(s):  
Michael Lifshitz ◽  
T. M. Luhrmann
Keyword(s):  
Cultural Context ◽  
Sensory Experience ◽  
Cultural Learning ◽  
The World

Abstract Culture shapes our basic sensory experience of the world. This is particularly striking in the study of religion and psychosis, where we and others have shown that cultural context determines both the structure and content of hallucination-like events. The cultural shaping of hallucinations may provide a rich case-study for linking cultural learning with emerging prediction-based models of perception.

Dual systems for all: Higher-order, role-based relational reasoning as a uniquely derived feature of human cognition

2019 ◽  
Vol 42 ◽  
Author(s):  
Daniel J. Povinelli ◽  
Gabrielle C. Glorioso ◽  
Shannon L. Kuznar ◽  
Mateja Pavlic
Keyword(s):  
Temporal Reasoning ◽  
Higher Order ◽  
Important Case ◽  
Human Cognition ◽  
Relational Reasoning ◽  
Dual Systems ◽  
First Order ◽  
Reasoning System ◽  
Role Based

Abstract Hoerl and McCormack demonstrate that although animals possess a sophisticated temporal updating system, there is no evidence that they also possess a temporal reasoning system. This important case study is directly related to the broader claim that although animals are manifestly capable of first-order (perceptually-based) relational reasoning, they lack the capacity for higher-order, role-based relational reasoning. We argue this distinction applies to all domains of cognition.

Sociocultural memory development research drives new directions in gadgetry science

2019 ◽  
Vol 42 ◽  
Author(s):  
Penny Van Bergen ◽  
John Sutton
Keyword(s):  
Episodic Memory ◽  
Autobiographical Memory ◽  
Developmental Psychology ◽  
Cross Cultural ◽  
Memory Development ◽  
Development Research ◽  
Cultural Research ◽  
New Directions ◽  
Cross Cultural Research

Abstract Sociocultural developmental psychology can drive new directions in gadgetry science. We use autobiographical memory, a compound capacity incorporating episodic memory, as a case study. Autobiographical memory emerges late in development, supported by interactions with parents. Intervention research highlights the causal influence of these interactions, whereas cross-cultural research demonstrates culturally determined diversity. Different patterns of inheritance are discussed.

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