scholarly journals How Australian mammals contributed to our understanding of sex determination and sex chromosomes

2016 ◽  
Vol 64 (4) ◽  
pp. 267 ◽  
Author(s):  
Jennifer A. Marshall Graves
Keyword(s):  
Sex Chromosomes ◽  
Human Genetics ◽  
Good Time ◽  
Mammalian Evolution ◽  
Genital Ridge ◽  
25Th Anniversary ◽  
Human Male ◽  
History Of ◽  
The Brain ◽  
Bipotential Gonad

Marsupials and monotremes can be thought of as independent experiments in mammalian evolution. The discovery of the human male-determining gene, SRY, how it works, how it evolved and defined our sex chromosomes, well illustrates the value of comparing distantly related animals and the folly of relying on humans and mice for an understanding of the most fundamental aspects of mammalian biology. The 25th anniversary of the discovery of SRY seems a good time to review the contributions of Australian mammals to these discoveries. The discovery of the mammalian sex determining gene, SRY, was a milestone in the history of human genetics. SRY opened up investigations into the pathway by which the genital ridge (bipotential gonad) becomes a testis. Studies of Australian mammals were important in the story of the discovery of SRY, not only in refuting the qualifications of the first candidate sex-determining gene, but also in confirming the ubiquity of SRY and raising questions as to how it works. Studies in marsupials also led to understanding of how SRY evolved from a gene on an autosome with functions in the brain and germ cells, and to identifying the ancestors of other genes on the human Y. The discovery that platypus have sex chromosomes homologous, not to the human XY, but to the bird ZW, dated the origin of the therian SRY and the XY chromosomes it defined. This led to important new models of how our sex chromosomes function, how they evolved, and what might befall this gene and the Y chromosome it defines.

Computers in Geology - 25 Years of Progress

1994 ◽  
Keyword(s):  
Computer Modeling ◽  
Quantitative Methods ◽  
State Of The Art ◽  
International Association ◽  
Mathematical Geology ◽  
25Th Anniversary ◽  
The Earth ◽  
Wide Range ◽  
History Of ◽  
Mapping Techniques

This volume vividly demonstrates the importance and increasing breadth of quantitative methods in the earth sciences. With contributions from an international cast of leading practitioners, chapters cover a wide range of state-of-the-art methods and applications, including computer modeling and mapping techniques. Many chapters also contain reviews and extensive bibliographies which serve to make this an invaluable introduction to the entire field. In addition to its detailed presentations, the book includes chapters on the history of geomathematics and on R.G.V. Eigen, the "father" of mathematical geology. Written to commemorate the 25th anniversary of the International Association for Mathematical Geology, the book will be sought after by both practitioners and researchers in all branches of geology.

scholarly journals L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria

Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 682
Author(s):  
Matthias Christen ◽  
Nils Janzen ◽  
Anne Fraser ◽  
Adrian C. Sewell ◽  
Vidhya Jagannathan ◽  
...  
Keyword(s):  
Current Knowledge ◽  
Genetic Defect ◽  
Clinical Signs ◽  
Missense Variant ◽  
Microcytic Anemia ◽  
Abnormal Behavior ◽  
Functional Candidate Gene ◽  
History Of ◽  
The Brain ◽  
Hydroxyglutaric Acid

A 7-month-old, spayed female, domestic longhair cat with L-2-hydroxyglutaric aciduria (L-2-HGA) was investigated. The aim of this study was to investigate the clinical signs, metabolic changes and underlying genetic defect. The owner of the cat reported a 4-month history of multiple paroxysmal seizure-like episodes, characterized by running around the house, often in circles, with abnormal behavior, bumping into obstacles, salivating and often urinating. The episodes were followed by a period of disorientation and inappetence. Neurological examination revealed an absent bilateral menace response. Routine blood work revealed mild microcytic anemia but biochemistry, ammonia, lactate and pre- and post-prandial bile acids were unremarkable. MRI of the brain identified multifocal, bilaterally symmetrical and T2-weighted hyperintensities within the prosencephalon, mesencephalon and metencephalon, primarily affecting the grey matter. Urinary organic acids identified highly increased levels of L-2-hydroxyglutaric acid. The cat was treated with the anticonvulsants levetiracetam and phenobarbitone and has been seizure-free for 16 months. We sequenced the genome of the affected cat and compared the data to 48 control genomes. L2HGDH, coding for L-2-hydroxyglutarate dehydrogenase, was investigated as the top functional candidate gene. This search revealed a single private protein-changing variant in the affected cat. The identified homozygous variant, XM_023255678.1:c.1301A>G, is predicted to result in an amino acid change in the L2HGDH protein, XP_023111446.1:p.His434Arg. The available clinical and biochemical data together with current knowledge about L2HGDH variants and their functional impact in humans and dogs allow us to classify the p.His434Arg variant as a causative variant for the observed neurological signs in this cat.

scholarly journals Molecular evolutionary analysis of human primary microcephaly genes

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nashaiman Pervaiz ◽  
Hongen Kang ◽  
Yiming Bao ◽  
Amir Ali Abbasi
Keyword(s):  
Evolutionary History ◽  
Genetic Basis ◽  
Brain Size ◽  
Primate Species ◽  
Evolutionary Analysis ◽  
Australopithecus Afarensis ◽  
Primary Microcephaly ◽  
Modern Humans ◽  
History Of ◽  
The Brain

Abstract Background There has been a rapid increase in the brain size relative to body size during mammalian evolutionary history. In particular, the enlarged and globular brain is the most distinctive anatomical feature of modern humans that set us apart from other extinct and extant primate species. Genetic basis of large brain size in modern humans has largely remained enigmatic. Genes associated with the pathological reduction of brain size (primary microcephaly-MCPH) have the characteristics and functions to be considered ideal candidates to unravel the genetic basis of evolutionary enlargement of human brain size. For instance, the brain size of microcephaly patients is similar to the brain size of Pan troglodyte and the very early hominids like the Sahelanthropus tchadensis and Australopithecus afarensis. Results The present study investigates the molecular evolutionary history of subset of autosomal recessive primary microcephaly (MCPH) genes; CEP135, ZNF335, PHC1, SASS6, CDK6, MFSD2A, CIT, and KIF14 across 48 mammalian species. Codon based substitutions site analysis indicated that ZNF335, SASS6, CIT, and KIF14 have experienced positive selection in eutherian evolutionary history. Estimation of divergent selection pressure revealed that almost all of the MCPH genes analyzed in the present study have maintained their functions throughout the history of placental mammals. Contrary to our expectations, human-specific adoptive evolution was not detected for any of the MCPH genes analyzed in the present study. Conclusion Based on these data it can be inferred that protein-coding sequence of MCPH genes might not be the sole determinant of increase in relative brain size during primate evolutionary history.

Streptococcus pluranimalium meningoencephalitis in a horse

2021 ◽  
pp. 104063872110234
Author(s):  
Dah-Jiun Fu ◽  
Akhilesh Ramachandran ◽  
Craig Miller
Keyword(s):  
Ribosomal Rna ◽  
Cross Sections ◽  
Nucleotide Sequencing ◽  
Formalin Fixed Paraffin ◽  
Quarter Horse ◽  
Formalin Fixed Paraffin Embedded ◽  
History Of ◽  
The Brain ◽  
Gram Positive Cocci ◽  
Formalin Fixed

A 3-y-old, female Quarter Horse with a history of acute neurologic signs was found dead and was submitted for postmortem examination. Areas of petechial and ecchymotic hemorrhage were present on cross-sections of the cerebrum, cerebellum, and brainstem. Histologic examination of the brain revealed severe, purulent meningoencephalitis and vasculitis with a myriad of intralesional gram-positive cocci. Streptococcus pluranimalium was identified from formalin-fixed, paraffin-embedded tissue obtained from sites with active lesions by PCR and nucleotide sequencing of bacterial 16S ribosomal RNA. S. pluranimalium should be considered as a cause of meningoencephalitis in a horse.

scholarly journals A Rare Case of Spontaneous Arachnoid Cyst Rupture Presenting as Right Hemiplegia and Expressive Aphasia in a Pediatric Patient

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 78
Author(s):  
Anne Bryden ◽  
Natalie Majors ◽  
Vinay Puri ◽  
Thomas Moriarty
Keyword(s):  
Cognitive Processing ◽  
Arachnoid Cyst ◽  
Memory Loss ◽  
Acute Onset ◽  
Word Finding ◽  
Outpatient Visits ◽  
The Family ◽  
History Of ◽  
Cyst Rupture ◽  
The Brain

This study examines an 11-year-old boy with a known history of a large previously asymptomatic arachnoid cyst (AC) presenting with acute onset of right facial droop, hemiplegia, and expressive aphasia. Shortly after arrival to the emergency department, the patient exhibited complete resolution of right-sided hemiplegia but developed headache and had persistent word-finding difficulties. Prior to symptom onset while in class at school, there was an absence of reported jerking movements, headache, photophobia, fever, or trauma. At the time of neurology consultation, the physical exam showed mildly delayed cognitive processing but was otherwise unremarkable. The patient underwent MRI scanning of the brain, which revealed left convexity subdural hematohygroma and perirolandic cortex edema resulting from ruptured left frontoparietal AC. He was evaluated by neurosurgery and managed expectantly. He recovered uneventfully and was discharged two days after presentation remaining asymptomatic on subsequent outpatient visits. The family express concerns regarding increased anxiety and mild memory loss since hospitalization.

THE Thomas Vicary Lecture: BEING A GLIMPSE INTO THE HISTORY OF THE SURGERY OF THE BRAIN.

The Lancet ◽  
1922 ◽  
Vol 199 (5134) ◽  
pp. 111-116
Keyword(s):  
History Of ◽  
The Brain

25 years of the Institute of Slavic Studies of the Slovak Academy of Sciences

2020 ◽  
Vol 15 (3-4) ◽  
pp. 226-235
Author(s):  
Marina M. Valentsova ◽  
Elena S. Uzeneva
Keyword(s):  
Middle Ages ◽  
Scientific Work ◽  
25Th Anniversary ◽  
Religious Texts ◽  
Language And Culture ◽  
Slavic Languages ◽  
Language History ◽  
History Of ◽  
Academy Of Sciences ◽  
Slavic Studies

The essay was written to mark the 25th anniversary of the Slavic Institute named after Jan Stanislav SAS (Bratislava). The Institute was founded to conduct interdisciplinary research on the relationships of the Slovak language and culture with other Slavic languages and cultures, as well as to study the Slovak-Latin, Slovak-Hungarian, and Slovak-German cultural and linguistic interactions in ancient times and the Middle Ages. The article introduces the main milestones in the formation and development of the Institute, its employees, the directions of their scientific work, and their significant publications. The main areas of research of the Slavic Institute (initially the Slavic Cabinet) cover linguistics (lexicography, history of language), history, folklore, cultural studies, musicology, and textology. Much attention is paid to the annotated translation of foreign religious texts into Slovak. A valuable contribution of the Institute to Slavic Studies is the creation of a database of Cyrillic and Latin handwritten and printed texts related to the Byzantine-Slavic tradition in Slovakia.

Lyme Disease: Acute Focal Meningoencephalitis in a Child

PEDIATRICS ◽  
1988 ◽  
Vol 82 (6) ◽  
pp. 931-934
Author(s):  
HENRY M. FEDER ◽  
EDWIN L. ZALNERAITIS ◽  
LOUIS REIK
Keyword(s):  
Nervous System ◽  
Case Report ◽  
Lyme Disease ◽  
Signs And Symptoms ◽  
Brain Parenchyma ◽  
Tick Bite ◽  
System Involvement ◽  
History Of ◽  
Csf Pleocytosis ◽  
The Brain

Nervous system involvement in Lyme disease was originally described as meningitis, cranial neuritis, and radiculoneuritis,1-3 but Lyme disease can also involve the brain parenchyma. We describe a child whose first manifestation of Lyme disease was an acute, focal meningoencephalitis with signs and symptoms such as fever, headache, slurred speech, hemiparesis, seizure, and CSF pleocytosis. CASE REPORT A 7-year-old boy was hospitalized Aug 27, 1985, because of hemiparesis. Six weeks prior to admission he had vacationed at Old Lyme, CT. There was no history of rash or tick bite. He had been well until eight hours prior to admission when fever and headache developed.

Toluene-induced leukodystrophy from glue sniffing

2021 ◽  
pp. practneurol-2021-002942
Author(s):  
Yue Hui Lau ◽  
Ahmad Shahir Mawardi ◽  
Norzaini Rose Zain ◽  
Shanthi Viswanathan
Keyword(s):  
Basal Ganglia ◽  
Cognitive Decline ◽  
Early Recognition ◽  
Cerebellar Atrophy ◽  
Premature Mortality ◽  
History Of ◽  
The Brain

A 33-year-old man with a history of chronic toluene abuse through glue sniffing, developed tremors, cerebellar signs and cognitive decline. MR scan of the brain showed global cerebral and cerebellar atrophy with symmetrical T2-weighted hypointensities in the basal ganglia, thalami and midbrain. After stopping glue sniffing, his tremors, ataxia of gait, speech and cognition partially improved. Early recognition and intervention of toluene-induced leukodystrophy could prevent ongoing morbidity and premature mortality.

Senses of Vibration

2012 ◽  
Author(s):  
Shelly Trower
Keyword(s):  
Sensory Experience ◽  
Cultural Imaginary ◽  
Wide Range ◽  
History Of ◽  
The Senses ◽  
To Come ◽  
The Brain

The study of the senses has become a rich topic in recent years. Senses of Vibration explores a wide range of sensory experience and makes a decisive new contribution to this growing field by focussing not simply on the senses as such, but on the material experience - vibration - that underpins them. This is the first book to take the theme of vibration as central, offering an interdisciplinary history of the phenomenon and its reverberations in the cultural imaginary. It tracks vibration through the work of a wide range of writers, including physiologists (who thought vibrations in the nerves delivered sensations to the brain), physicists (who claimed that light, heat, electricity and other forms of energy were vibratory), spiritualists (who figured that spiritual energies also existed in vibratory form), and poets and novelists from Coleridge to Dickens and Wells. Senses of Vibration is a work of scholarship that cuts through a range of disciplines and will reverberate for many years to come.

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