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93 records – page 1 of 10.

A 30-year history of MPAN case from Russia.

https://arctichealth.org/en/permalink/ahliterature290990
Source
Clin Neurol Neurosurg. 2017 Aug; 159:111-113
Publication Type
Case Reports
Journal Article
Date
Aug-2017
Author
M Selikhova
E Fedotova
S Wiethoff
L V Schottlaender
S Klyushnikov
S N Illarioshkin
H Houlden
Author Affiliation
Reta Lila Weston Institute of Neurological Studies, UCL,1 Wakefield Street, London WC1N 1PJ, United Kingdom. Electronic address: m.selikhova@talk21.com.
Source
Clin Neurol Neurosurg. 2017 Aug; 159:111-113
Date
Aug-2017
Language
English
Publication Type
Case Reports
Journal Article
Keywords
Adult
Female
Humans
Intellectual Disability - diagnostic imaging - genetics
Mitochondrial Membrane Transport Proteins - genetics
Mitochondrial Proteins - genetics
Muscle Spasticity - diagnostic imaging - genetics
Optic Atrophy - diagnostic imaging - genetics
Russia
Spinocerebellar Ataxias - diagnostic imaging - genetics
Time Factors
Abstract
We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders, particularly the anarthric NBIA group.
PubMed ID
28641177 View in PubMed
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A 39-Year-Old Woman With Hemoptysis, Polydipsia, and Polyuria.

https://arctichealth.org/en/permalink/ahliterature303563
Source
Chest. 2021 Feb; 159(2):e97-e101
Publication Type
Case Reports
Date
Feb-2021
Author
Sarah-Jane Sass
Evan Wiens
Jennifer Ziegler
Aditya Sharma
Author Affiliation
Department of Internal Medicine, University of Manitoba, Winnipeg, MB, Canada. Electronic address: sarahjane.sass@gmail.com.
Source
Chest. 2021 Feb; 159(2):e97-e101
Date
Feb-2021
Language
English
Publication Type
Case Reports
Abstract
A 39-year-old previously healthy woman presented to the hospital with a nonproductive cough, small-volume hemoptysis, and exertional dyspnea. In addition, she reported a 4-week history of progressive left-sided headache, retro-orbital pain, left ear conductive hearing loss, fever, chills, anorexia, and a 10-lb weight loss. She had no prior sick contacts or history of respiratory tract infections. She did not take any chronic medications or supplements. The patient was a lifelong nonsmoker. She worked as a field consultant in Northern Manitoba communities. While in the hospital, she developed new symptoms of "unquenchable thirst," polydipsia, and polyuria.
PubMed ID
33563462 View in PubMed
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[A Case of Congenital Nephrotic Syndrome of the Finnish Type].

https://arctichealth.org/en/permalink/ahliterature304179
Source
Sichuan Da Xue Xue Bao Yi Xue Ban. 2020 Nov; 51(6):881-884
Publication Type
Case Reports
Journal Article
Date
Nov-2020
Author
Yu Zhou
Qiong Chen
Xi Huang
Li-Ming Yang
Juan Chen
Author Affiliation
Department of Neonatology, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
Source
Sichuan Da Xue Xue Bao Yi Xue Ban. 2020 Nov; 51(6):881-884
Date
Nov-2020
Language
Chinese
Publication Type
Case Reports
Journal Article
Keywords
China
Female
Finland
Humans
Infant
Infant, Newborn
Male
Membrane Proteins - genetics
Mutation
Nephrotic Syndrome - genetics
Pregnancy
Abstract
A 5 +-day-old male patient was hospitalized due to a significant increase of urine protein for 5 + d. A 36 +4 weeks preterm male infant was found with III° polluted amniotic fluid and excessive placenta, presented with proteinuria, hypoproteinemia, and progressive edema after birth. Two heterozygous mutations of NPHS1 gene, c.3325C>T (p.Arg1109*) and c.2479C>T (p.Arg827*), were found through the whole exon gene detection. The latter has not been reported domestically and the diagnosis of congenitalnephrotic syndrome of the Finnish type (CNF) is definite. The report of c.2479C>T mutation gene will expand the mutation spectrum of CNF gene data in China. Early genetic testing is recommended for cryptogenic congenital nephrotic syndrome (CNS) and early genetic diagnosis of CNF is important for prognostic evaluation, genetic counseling and clinical management.
PubMed ID
33236617 View in PubMed
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[A case of the tick (Ixodidae) hiperinvasion of the tundra vole in magadan environs].

https://arctichealth.org/en/permalink/ahliterature289887
Source
Parazitologiia. 2017 Jan-Feb; 51(1):45-50
Publication Type
Case Reports
Journal Article
Author
N E Dokuchaev
Source
Parazitologiia. 2017 Jan-Feb; 51(1):45-50
Language
Russian
Publication Type
Case Reports
Journal Article
Keywords
Animals
Arvicolinae - parasitology
Fatal Outcome
Ixodes - pathogenicity - physiology
Male
Siberia
Tick Infestations - parasitology - pathology
Tundra
Abstract
A case of tundra vole death as a result its hyperinvasion by ticks Ixodes angustus on the northern periphery of the Asiatic range of the parasite is given.
PubMed ID
29401575 View in PubMed
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An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.

https://arctichealth.org/en/permalink/ahliterature307957
Source
Acta Neuropathol Commun. 2019 11 27; 7(1):188
Publication Type
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Date
11-27-2019
Author
Christina Sundal
Susana Carmona
Maria Yhr
Odd Almström
Maria Ljungberg
John Hardy
Carola Hedberg-Oldfors
Åsa Fred
José Brás
Anders Oldfors
Oluf Andersen
Rita Guerreiro
Author Affiliation
Department of Clinical Neurology, Institute of Neuroscience and Physiology, the Sahlgrenska Academy, University of Gothenburg, Gröna Stråket 11, 3rd floor, Sahlgrenska University Hospital, 413 45, Göteborg, Sweden.
Source
Acta Neuropathol Commun. 2019 11 27; 7(1):188
Date
11-27-2019
Language
English
Publication Type
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Adult
Alanine-tRNA Ligase - genetics
Amino Acid Sequence
Female
Genetic Variation - genetics
Humans
Leukoencephalopathies - diagnosis - genetics
Male
Middle Aged
Pedigree
Sweden
Whole Exome Sequencing - methods
Abstract
Swedish type Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS-S) is a severe adult-onset leukoencephalopathy with the histopathological hallmark of neuraxonal degeneration with spheroids, described in a large family with a dominant inheritance pattern. The initial stage of the disease is dominated by frontal lobe symptoms that develop into a rapidly advancing encephalopathy with pyramidal, deep sensory, extrapyramidal and optic tract symptoms. Median survival is less than 10?years. Recently, pathogenic mutations in CSF1R were reported in a clinically and histologically similar leukoencephalopathy segregating in several families. Still, the cause of HDLS-S remained elusive since its initial description in 1984, with no CSF1R mutations identified in the family. Here we update the original findings associated with HDLS-S after a systematic and recent assessment of several family members. We also report the results from exome sequencing analyses indicating the p.Cys152Phe variant in the alanyl tRNA synthetase (AARS) gene as the probable cause of this disease. The variant affects an amino acid located in the aminoacylation domain of the protein and does not cause differences in splicing or expression in the brain. Brain pathology in one case after 10?years of disease duration showed the end stage of the disease to be characterized by widespread liquefaction of the white matter leaving only some macrophages and glial cells behind the centrifugally progressing front. These results point to AARS as a candidate gene for rapidly progressing adult-onset CSF1R-negative leukoencephalopathies.
PubMed ID
31775912 View in PubMed
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Analysis of Endotoxin Adsorption in Two Swedish Patients with Septic Shock.

https://arctichealth.org/en/permalink/ahliterature299700
Source
Blood Purif. 2019; 47 Suppl 3:1-3
Publication Type
Case Reports
Journal Article
Date
2019
Author
Marcus Ewert Broman
Mikael Bodelsson
Author Affiliation
Perioperative and Intensive Care, Skåne University Hospital, Lund, Sweden, marcus.broman@med.lu.se.
Source
Blood Purif. 2019; 47 Suppl 3:1-3
Date
2019
Language
English
Publication Type
Case Reports
Journal Article
Keywords
Aged
Aged, 80 and over
Endotoxins - blood
Gram-Positive Bacterial Infections - blood - therapy
Hemofiltration - instrumentation - methods
Humans
Male
Shock, Septic - blood - therapy
Sweden
Abstract
Lipopolysaccharide (endotoxin) from the outer Gram-negative bacterial wall can induce a harmful immunologic response, involving hemodynamic deprivation, and is one important motor driving the septic cascade. The positively charged poly-imine ethylene layer on the oXiris membrane is capable of adsorbing negatively charged endotoxin molecules and removing them from the blood compartment. Endotoxin is detrimental and should be removed from blood.
The adsorbable endotoxin fraction in blood arises from a tight balance between seeding from an infectious focus and removal by an overwhelmed immune system. The net sum of remaining endotoxin in blood is available for an adsorption process in the oXiris filter. Endotoxin data from 2 patients with severe Gram-negative septic shock and endotoxemia in this case series, speaks for a considerable share of the adsorption of the oXiris filter in the endotoxin net removal over time. Key Messages: Analysis of combined in vitro and in vivo data speaks for an effect of the oXiris filter in lowering endotoxin.
PubMed ID
30982027 View in PubMed
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An unusual case of Erysipelothrix rhusiopathiae prosthetic joint infection from the Canadian Arctic: whole genome sequencing unable to identify a zoonotic source.

https://arctichealth.org/en/permalink/ahliterature299701
Source
BMC Infect Dis. 2019 Mar 25; 19(1):282
Publication Type
Case Reports
Journal Article
Date
Mar-25-2019
Author
Michael Groeschel
Taya Forde
Shannon Turvey
A Mark Joffe
Catherine Hui
Prenilla Naidu
Fabien Mavrot
Susan Kutz
Ameeta E Singh
Author Affiliation
Department of Medical Microbiology and Immunology, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada. michael.groeschel@cls.ab.ca.
Source
BMC Infect Dis. 2019 Mar 25; 19(1):282
Date
Mar-25-2019
Language
English
Publication Type
Case Reports
Journal Article
Keywords
Aged
Animals
Animals, Wild - microbiology
Arctic Regions
Arthritis, Infectious - transmission
Canada
Erysipelothrix
Erysipelothrix Infections - microbiology - transmission
Female
Humans
Knee Prosthesis - microbiology
Prosthesis-Related Infections - microbiology - transmission
Whole Genome Sequencing
Zoonoses - microbiology - transmission
Abstract
Erysipelothrix rhusiopathiae is a zoonotic pathogen that causes erysipeloid and is most frequently associated with exposure to domestic swine. Infection of native and prosthetic joints is a rarely reported manifestation.
We describe a case of E. rhusiopathiae prosthetic joint infection in a woman with a history of exposure to wild animals in the Canadian Arctic. Patient management involved a 1-stage surgical revision exchange with an antibiotic impregnated cement spacer and 6 weeks of intravenous penicillin G followed by 6?weeks of oral amoxicillin. Ten previously reported cases of E. rhusiopathiae joint infection are reviewed. Recent increases in mortality due to infection with this organism among host animal populations in the Canadian Arctic have generated concern regarding a potential increase in human infections. However, whole genome sequencing (WGS) of the organism was unable to identify a zoonotic origin for this case.
Consideration should be given to E. rhusiopathiae as a cause of joint infections if the appropriate epidemiologic and host risk factors exist. Expanded use of WGS in other potential animal hosts and environmental sources may provide important epidemiologic information in determining the source of human infections.
PubMed ID
30909869 View in PubMed
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Asymptomatic loss of intraepidermal nerve fibers with preserved thermal detection thresholds after repeated exposure to severe cold.

https://arctichealth.org/en/permalink/ahliterature298484
Source
Brain Behav. 2018 03; 8(3):e009147
Publication Type
Case Reports
Journal Article
Date
03-2018
Author
Thomas Krøigård
Martin Wirenfeldt
Toke K Svendsen
Søren H Sindrup
Author Affiliation
Department of Neurology Odense University Hospital Odense C Denmark.
Source
Brain Behav. 2018 03; 8(3):e009147
Date
03-2018
Language
English
Publication Type
Case Reports
Journal Article
Keywords
Adult
Cold Temperature - adverse effects
Greenland
Humans
Male
Nerve Fibers - physiology
Neurologic Examination - methods
Norway
Pain Threshold - physiology
Peripheral Nervous System Diseases - diagnosis - physiopathology
Skin - innervation
Abstract
Cold-induced peripheral neuropathy has been described in individuals exposed to severe cold resulting in pain, hypersensitivity to cold, hyperhidrosis, numbness, and skin changes. Nerve conduction studies and thermal detection thresholds are abnormal in symptomatic patients, and intraepidermal nerve fiber density (IENFD) in skin biopsies is reduced.
A 41-year-old male was included as a healthy subject in a study of the spontaneous variability of quantitative sensory testing (QST), nerve conduction studies (NCS), and IENFD. Unexpectedly, IENFD was significantly reduced, whereas the rest of the examination was normal except for reduced vibration detection threshold. The results were confirmed at follow-up examination. The subject had been repeatedly exposed to severe cold resulting in short lasting numbness and paresthesia while living in the eastern part of Greenland and the northern part of Norway.
Loss of intraepidermal nerve fibers caused by exposure to severe cold may be asymptomatic, and their function assessed by thermal detection thresholds may be preserved. This case illustrates that QST and IENFD are complementary tests and that subclinical cold-induced peripheral neuropathy may be prevalent in subjects living in or near polar regions which could have implications for the recruitment of healthy subjects.
PubMed ID
29541548 View in PubMed
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B-cell chronic lymphocytic leukemia in a miniature American Eskimo dog.

https://arctichealth.org/en/permalink/ahliterature307804
Source
Can Vet J. 2019 Dec; 60(12):1353-1355
Publication Type
Case Reports
Journal Article
Date
Dec-2019
Author
Julie Calvert
Author Affiliation
Ontario Veterinary College, University of Guelph, Guelph, Ontario N1G 2W1.
Source
Can Vet J. 2019 Dec; 60(12):1353-1355
Date
Dec-2019
Language
English
Publication Type
Case Reports
Journal Article
Keywords
Animals
Dog Diseases
Dogs
Flow Cytometry - veterinary
Humans
Inuits
Leukemia, Lymphocytic, Chronic, B-Cell - veterinary
Lymph Nodes
Lymphocytosis - veterinary
Male
United States
Abstract
An 11-year-old neutered male miniature American Eskimo dog was presented for routine dental cleaning with moderately enlarged submandibular, prescapular, and popliteal lymph nodes. On pre-anesthetic blood analysis a moderate, poorly regenerative anemia and marked lymphocytosis were observed. Although cytologic evaluation of a lymph node aspirate was interpreted as lymphoma, a complete blood cell count, flow cytometric immunotyping of blood leukocytes, and serum electrophoresis identified B-cell chronic lymphocytic leukemia. Chemotherapy with chlorambucil was recommended.
Leucémie lymphocytaire chronique à cellules B chez un chien Eskimo américain miniature. Un chien mâle castré âgé de 11 ans de race Eskimo miniature fut présenté pour nettoyage dentaire de routine avec une hypertrophie modérée des ganglions sous-mandibulaires, pré-scapulaires et poplités. Lors des analyses sanguines pré-anesthésie, une anémie pauvrement régénératrice et une lymphocytose marquée furent observées. Bien que l’évaluation cytologique d’une aspiration d’un des ganglions fut interprétée comme un lymphome, un comptage cellulaire sanguin complet, l’immunotypage des leucocytes sanguins par cytométrie en flux, et une électrophorèse du sérum identifièrent une leucémie lymphocytaire chronique à cellules B. Une chimiothérapie avec du chlorambucil et de la prednisone fut recommandée.(Traduit par Dr Serge Messier).
PubMed ID
31814644 View in PubMed
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Bed and rise times during the Age of Enlightenment: A case report.

https://arctichealth.org/en/permalink/ahliterature309564
Source
J Sleep Res. 2019 12; 28(6):e12862
Publication Type
Case Reports
Historical Article
Journal Article
Research Support, Non-U.S. Gov't
Date
12-2019
Author
Lieve van Egmond
Martin Ekman
Christian Benedict
Author Affiliation
Sleep Research Laboratory, Department of Neuroscience, Uppsala University, Uppsala, Sweden.
Source
J Sleep Res. 2019 12; 28(6):e12862
Date
12-2019
Language
English
Publication Type
Case Reports
Historical Article
Journal Article
Research Support, Non-U.S. Gov't
Keywords
Circadian Rhythm - physiology
History, 18th Century
Humans
Lighting - trends
Male
Middle Aged
Seasons
Sleep - physiology
Sweden
Wakefulness - physiology
Abstract
Studies have shown that our modern electrical lighting environment reduces naturally occurring seasonal variations in sleep-wake rhythms, such as longer sleep during the winter versus summer. However, less is known about how timing and duration of sleep were affected by the seasons in the premodern era, before the invention of electrical lighting. The Swedish researcher Olof Hiorter collected and documented geophysical data every hour during wakefulness in Uppsala, Sweden, between December 1746 and November 1747. In this way, his bed and rise times could be approximated. The data revealed that Hiorter's rise times occurred around 1 hr before sunrise in winter versus 1 hr after sunrise in summer. No such association was observed between the time of sunset and Hiorter's bedtimes. Finally, the time in bed was about 3.5-4 hr shorter in summer compared to winter. This 273-year-old case report suggests that time in bed and rise times of people from the premodern era exhibited seasonal variations.
PubMed ID
31012165 View in PubMed
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93 records – page 1 of 10.