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 MYO5A Frameshift Variant in a Miniature Dachshund with Coat Color Dilution and Neurological Defects Resembling Human Griscelli Syndrome Type 1

Genes ◽  
2021 ◽  
Vol 12 (10) ◽  
pp. 1479
Author(s):  
Matthias Christen ◽  
Madeleine de le Roi ◽  
Vidhya Jagannathan ◽  
Kathrin Becker ◽  
Tosso Leeb
Keyword(s):  
Coat Color ◽  
Current Knowledge ◽  
Histopathological Examination ◽  
Genetic Defect ◽  
Clinical Signs ◽  
Hair Follicles ◽  
Loss Of Function ◽  
Functional Candidate Gene ◽  
Myosin Va

A 1-month-old, female, smooth-haired miniature Dachshund with dilute color and neurological defects was investigated. The aim of this study was to characterize the clinical signs, histopathological changes and underlying genetic defect. The puppy had visible coat color dilution and was unable to hold its head on its own or to remain in a stable prone position for an extended period. Histopathological examination revealed an accumulation of clumped melanin and deposition of accumulated keratin within the hair follicles, accompanied by dermal pigmentary incontinence. These dermatological changes were compatible with the histopathology described in dogs with an MLPH-related dilute coat color. We sequenced the genome of the affected dog and compared the data to 795 control genomes. MYO5A, coding for myosin VA, was investigated as the top functional candidate gene. This search revealed a private homozygous frameshift variant in MYO5A, XM_022412522.1:c.4973_4974insA, predicted to truncate 269 amino acids (13.8%) of the wild type myosin VA protein, XP_022268230.1:p.(Asn1658Lysfs*28). The genotypes of the index family showed the expected co-segregation with the phenotype and the mutant allele was absent from 142 additionally genotyped, unrelated Dachshund dogs. MYO5A loss of function variants cause Griscelli type 1 syndrome in humans, lavender foal in horses and the phenotype of the dilute mouse mutant. Based on the available data, together with current knowledge on other species, we propose the identified MYO5A frameshift insertion as a candidate causative variant for the observed dermatological and neurological signs in the investigated dog.

scholarly journals Peritumoral (pseudo)cystic meningioma in a cat

2020 ◽  
Vol 89 (4) ◽  
pp. 215-220
Author(s):  
V. Volckaert ◽  
E. Royaux
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Clinical Signs ◽  
Abnormal Behavior ◽  
Histopathologic Examination ◽  
Resonance Imaging ◽  
Axial Mass ◽  
History Of ◽  
One Year ◽  
The Brain

A nine-year-old, male, neutered domestic shorthair cat was referred with a three-month history of abnormal behavior. On neurological examination, the cat showed circling towards the left. Magnetic resonance imaging of the brain revealed an extra-axial mass at the level of the left forebrain surrounded by a large peritumoral (pseudo)cyst. A left-sided rostrotentorial craniectomy to drain the fluid and to remove the tumor was performed. On histopathologic examination, the presence of a meningioma was confirmed. The owners did not report any clinical signs one year postoperatively.

scholarly journals Canine adenovirus type 1 causing neurological signs in a 5-week-old puppy

2019 ◽  
Vol 15 (1) ◽  
Author(s):  
Samuel J. Hornsey ◽  
Hélène Philibert ◽  
Dale L. Godson ◽  
Elisabeth C. R. Snead
Keyword(s):  
Inclusion Bodies ◽  
Clinical Signs ◽  
Adenovirus Type ◽  
Intranuclear Inclusion ◽  
Case Presentation ◽  
Neurological Signs ◽  
History Of ◽  
The Brain ◽  
Timely Reminder

Abstract Background Infectious canine hepatitis is a rarely encountered disease, that is caused by Canine Adenovirus-1. Clinical signs can vary dramatically, and neurological signs are rarely seen. Neurological manifestation of this disease is rarely reported in the veterinary literature. Case presentation A 5-week-old, male entire Husky cross puppy presented for a one-day history of abnormal neurological behaviour (circling, ataxia, vocalization and obtund mentation). The puppy was euthanized shortly after presentation due to rapid deterioration. Histopathology raised concerns for Canine Adenovirus 1 (CAdV-1) based on vasculitis in the brain and intranuclear inclusion bodies in endothelial cell and hepatocytes; immunohistochemistry on brain tissue confirmed CAdV-1 infection. Conclusions This report discusses possible routes of infection and manifestations of adenovirus infections causing neurologic signs. It also provides a timely reminder that CAdV-1 should be considered a differential in unvaccinated dogs that present with neurological signs. Further studies are required to better understand the neurotrophic tendencies of this virus.

scholarly journals The Blood–Brain Barrier, an Evolving Concept Based on Technological Advances and Cell–Cell Communications

Cells ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 133
Author(s):  
Camille Menaceur ◽  
Fabien Gosselet ◽  
Laurence Fenart ◽  
Julien Saint-Pol
Keyword(s):  
Blood Brain Barrier ◽  
Current Knowledge ◽  
Neurovascular Unit ◽  
Cell Communication ◽  
Brain Barrier ◽  
Blood Brain ◽  
Brain Pericytes ◽  
History Of ◽  
The Brain ◽  
Cell Cell

The construction of the blood–brain barrier (BBB), which is a natural barrier for maintaining brain homeostasis, is the result of a meticulous organisation in space and time of cell–cell communication processes between the endothelial cells that carry the BBB phenotype, the brain pericytes, the glial cells (mainly the astrocytes), and the neurons. The importance of these communications for the establishment, maturation and maintenance of this unique phenotype had already been suggested in the pioneering work to identify and demonstrate the BBB. As for the history of the BBB, the evolution of analytical techniques has allowed knowledge to evolve on the cell–cell communication pathways involved, as well as on the role played by the cells constituting the neurovascular unit in the maintenance of the BBB phenotype, and more particularly the brain pericytes. This review summarises the key points of the history of the BBB, from its origin to the current knowledge of its physiology, as well as the cell–cell communication pathways identified so far during its development, maintenance, and pathophysiological alteration.

scholarly journals Congenital pituitary cyst resulting in adipsic central diabetes insipidus and secondary hypernatremia in a cat

2021 ◽  
Vol 7 (1) ◽  
pp. 205511692199029
Author(s):  
Janny Evenhuis ◽  
Steven E Epstein ◽  
Ann Della-Maggiore ◽  
Krystle L Reagan
Keyword(s):  
Diabetes Insipidus ◽  
Clinical Signs ◽  
Free Water ◽  
Reference Interval ◽  
Feeding Tube ◽  
Clinical Presentations ◽  
Pituitary Cyst ◽  
History Of ◽  
The Brain

Case summary A 9-month-old intact female domestic mediumhair cat presented with a 5-month history of obtundation, lethargy, hypernatremia (181 mmol/l; reference interval [RI] 151–158 mmol/l), hyperchloremia (142 mmol/l; RI 117–126 mmol/l), azotemia (blood urea nitrogen 51 mg/dl; RI 18–33 mg/dl), creatinine 3.0 mg/dl (RI 1.1–2.2 mg/dl), hyperphosphatemia (8.3 mg/dl; RI 3.2–6.3 mg/dl) and total hypercalcemia (11.4 mg/dl; RI 9–10.9 mg/dl), with concurrent polyuria with adipsia. Neurologic evaluation revealed proprioceptive deficits, and this finding paired with a history of focal seizure-like activity despite improving sodium concentrations suggested a cerebrothalamic lesion. For this reason, and historical and biochemical findings consistent with adipsic diabetes insipidus (DI), MRI of the brain was performed, which revealed a lesion of the hypophyseal fossa consistent with a pituitary cyst. Given the patient’s age and the timeline of clinical signs, a congenital pituitary cyst was strongly suspected. The patient was managed initially with intravenous fluids to correct the hypernatremia, then managed for more than 4 years with topical ocular desmopressin acetate administration and free water administered through a feeding tube. This cat’s clinical diagnosis included a congenital pituitary cyst with subsequent central DI and primary adipsia. Relevance and novel information The clinical presentations of primary adipsia or central DI are both rare in cats. This is the first report to describe these conditions occurring in a cat owing to a congenital pituitary cyst and describes successful long-term management of this condition.

Intraocular tuberculosis, a challenge in diagnosis and treatment

2020 ◽  
Vol 3 ◽  
pp. 4
Author(s):  
Martina Larroude ◽  
Gustavo Ariel Budmann
Keyword(s):  
Developing Countries ◽  
Clinical Signs ◽  
Steady Increase ◽  
Ocular Tuberculosis ◽  
Industrial Countries ◽  
Choroidal Granuloma ◽  
History Of ◽  
And Migration ◽  
Ocular Tb

Ocular tuberculosis (TB) is an extrapulmonary tuberculous condition and has variable manifestations. The incidence of TB is still high in developing countries, and a steady increase in new cases has been observed in industrial countries as a result of the growing number of immunodeficient patients and migration from developing countries. Choroidal granuloma is a rare and atypical location of TB. We present a case of a presumptive choroidal granuloma. This case exposes that diagnosis can be remarkably challenging when there is no history of pulmonary TB. The recognition of clinical signs of ocular TB is extremely important since it provides a clinical pathway toward tailored investigations and decision making for initiating anti-TB therapy and to ensure a close follow-up to detect the development of any complication.

Paleontology and stratigraphy of Middle Eocene rock units in the southern Green River and Uinta Basins, Wyoming and Utah

2017 ◽  
Vol 4 ◽  
pp. 1-53 ◽  
Author(s):  
Paul Murphey ◽  
K.E. Townsend ◽  
Anthony Friscia ◽  
James Westgate ◽  
Emmett Evanoff ◽  
...  
Keyword(s):  
Current Knowledge ◽  
Middle Eocene ◽  
Green River Basin ◽  
Green River ◽  
Scientific Exploration ◽  
History Of ◽  
Climatic History ◽  
Field Excursion ◽  
Land Mammal ◽  
Bridger Formation

The Bridger Formation is restricted to the Green River Basin in southwest Wyoming, and the Uinta and Duchesne River Formations are located in the Uinta Basin in Utah. These three rock units and their diverse fossil assemblages are of great scientific importance and historic interest to vertebrate paleontologists. Notably, they are also the stratotypes from oldest to youngest for the three middle Eocene North American Land Mammal Ages—the Bridgerian, Uintan, and Duchesnean. The fossils and sediments of these formations provide a critically important record of biotic, environmental, and climatic history spanning approximately 10 million years (49 to 39 Ma). This article provides a detailed field excursion through portions of the Green River and Uinta Basins that focuses on locations of geologic, paleontologic, and historical interest. In support of the field excursion, we also provide a review of current knowledge of these formations with emphasis on lithostratigraphy, biochronology, depositional, and paleoenvironmental history, and the history of scientific exploration.

Neurotoxic and Neuroprotective Role of Exosomes in Parkinson’s Disease

2020 ◽  
Vol 25 (42) ◽  
pp. 4510-4522 ◽  
Author(s):  
Biancamaria Longoni ◽  
Irene Fasciani ◽  
Shivakumar Kolachalam ◽  
Ilaria Pietrantoni ◽  
Francesco Marampon ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Potential Role ◽  
Current Knowledge ◽  
Biological Fluids ◽  
Cell Communication ◽  
Target Cells ◽  
Cellular Debris ◽  
The Brain

: Exosomes are extracellular vesicles produced by eukaryotic cells that are also found in most biological fluids and tissues. While they were initially thought to act as compartments for removal of cellular debris, they are now recognized as important tools for cell-to-cell communication and for the transfer of pathogens between the cells. They have attracted particular interest in neurodegenerative diseases for their potential role in transferring prion-like proteins between neurons, and in Parkinson’s disease (PD), they have been shown to spread oligomers of α-synuclein in the brain accelerating the progression of this pathology. A potential neuroprotective role of exosomes has also been equally proposed in PD as they could limit the toxicity of α-synuclein by clearing them out of the cells. Exosomes have also attracted considerable attention for use as drug vehicles. Being nonimmunogenic in nature, they provide an unprecedented opportunity to enhance the delivery of incorporated drugs to target cells. In this review, we discuss current knowledge about the potential neurotoxic and neuroprotective role of exosomes and their potential application as drug delivery systems in PD.

Experimental Rodent Models of Vascular Dementia: A Systematic Review

2021 ◽  
Vol 19 ◽  
Author(s):  
Nidhi Tiwari ◽  
Jyoti Upadhyay ◽  
Mohd Nazam Ansari ◽  
Syed Shadab Raza ◽  
Wasim Ahmad ◽  
...  
Keyword(s):  
Vascular Dementia ◽  
Small Vessel Disease ◽  
Current Knowledge ◽  
Vascular Cognitive Impairment ◽  
Experimental Models ◽  
New Drugs ◽  
Amyloid Angiopathy ◽  
Vessel Disease ◽  
The Brain ◽  
Large Vessel Disease

: Vascular dementia (VaD) occurs due to cerebrovascular insufficiency, which leads to decreased blood circulation to the brain, thereby resulting in mental disabilities. The main causes of vascular cognitive impairment (VCI) are severe hypoperfusion, stroke, hypertension, large vessel disease (cortical), small vessel disease (subcortical VaD), strategic infarct, hemorrhage (microbleed), cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), and cerebral amyloid angiopathy (CAA),which leads to decreased cerebrovascular perfusion. Many metabolic disorders such as diabetes mellitus (DM), dyslipidemia, and hyperhomocysteinemia are also related to VaD. The rodent experimental models provide a better prospective for the investigation of the molecular mechanism of new drugs. A plethora of experimental models are available that mimic the pathological conditions and lead to VaD. This review article updates the current knowledge on the basis of VaD, risk factors, pathophysiology, mechanism, advantages, limitations, and the modification of various available rodent experimental models.

Surgical management of choke through oesophagotomy in a buffalo: A case report

2017 ◽  
Vol 12 (3) ◽  
Author(s):  
Devasee Borakhatariya ◽  
A. B. Gadara
Keyword(s):  
Case Report ◽  
Surgical Management ◽  
Clinical Presentation ◽  
Clinical Signs ◽  
Thoracic Inlet ◽  
Cervical Oesophagus ◽  
Foreign Objects ◽  
History Of ◽  
Oesophageal Obstruction ◽  
Large Animals

Oesophageal disorders are relatively uncommon in large animals. Oesophageal obstruction is the most frequently encountered clinical presentation in bovine and it may be intraluminal or extra luminal (Haven, 1990). Intraluminal obstruction or “choke” is the most common abnormality that usually occurs when foreign objects, large feedstuff, medicated boluses, trichobezoars, or oesophageal granuloma lodge in the lumen of the oesophagus. Oesophageal obstructions in bovine commonly occur at the pharynx, the cranial aspect of the cervical oesophagus, the thoracic inlet, or the base of the heart (Choudhary et al., 2010). Diagnosis of such problem depends on the history of eating particular foodstuff and clinical signs as bloat, tenesmus, retching, and salivation

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