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1. Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia

Author:
I. M. Khidiyatova; E. V. Saifullina; A. S. Karunas; A. F. Akhmetgaleyeva; R. F. Kutlubaeva; L. A. Smakova; S. L. Lobov; A. V. Polyakov; O. A. Shchagina; V. A. Kadnikova; O. P. Ryzhkova; R. V. Magzhanov; E. K. Khusnutdinova
Source:
Russian journal of genetics 2022 v.58 no.9 pp. 1145-1153
ISSN:
1022-7954
Subject:
disease course,   etc   ; exons; missense mutation; patients;     Show all 4 Subjects
Abstract:
... Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders with a predominant lesion of the pyramidal tract. The autosomal dominant form of SPG3A, associated with mutations in the ATL1 gene, is one of the most common forms of HSP in European populations. Analysis of the ATL1 gene was performed in 63 unrelated families with HSP from the Republic of Bashkortostan. Two pathogenic v ...
DOI:
10.1134/S1022795422090113

2. Non-cardiogenic pulmonary oedema complicating balloon valvuloplasty and stent angioplasty of severe pulmonary valve stenosis in four dogs

Author:
G. Santarelli; J. Bouvard; S.F. Brethel; S. Gordon; S. Lord; A. Mavropoulou; P. Oliveira; K.T. Sykes; S. Swift; G.J. Culshaw
Source:
Journal of veterinary cardiology 2022 v.39 pp. 79-88
ISSN:
1760-2734
Subject:
disease course,   etc   ; edema; hypertension; morbidity; mortality;     Show all 5 Subjects
Abstract:
... In dogs, balloon valvuloplasty is considered the treatment of choice for severe pulmonary valve stenosis, and this technique is currently performed routinely in specialist referral practices with low morbidity and mortality. Stent angioplasty has also been recently proposed as a viable treatment option. The present case series describes the clinical course of four dogs with severe pulmonary valve ...
DOI:
10.1016/j.jvc.2021.12.003

3. Dataset on negative symptoms factors in patients with schizophrenia

Author:
T.V. Lezheiko; N.Yu. Kolesina; V.E. Golimbet
Source:
Data in Brief 2022 v.40 pp. 107790
ISSN:
2352-3409
Subject:
disease course,   etc   ; data collection; factor analysis; patients; schizophrenia;     Show all 5 Subjects
Abstract:
... Schizophrenia is a severe mental disorder characterized by positive and negative symptoms. The negative symptoms are highly relevant to the disease course and outcome. Because negative symptoms show considerable heterogeneity, there is substantial interest in elucidating the negative symptom domains that are characteristic of patient subgroups. It has been proposed that patients with schizophrenia ...
DOI:
10.1016/j.dib.2022.107790

4. Retrospective Analysis of the Use of Tiludronate in Equine Practice: Safety on 1804 Horses, Efficacy on 343 Horses

Author:
Adeline Tischmacher; Sophie Wilford; Kent Allen; Richard D. Mitchell; Tim Parkin; Jean-Marie Denoix
Source:
Journal of equine veterinary science 2022 v.115 pp. 104007
ISSN:
0737-0806
Subject:
disease course,   etc   ; horses; lameness; retrospective studies; veterinary medicine; Virginia;     Show all 6 Subjects
Abstract:
... The objective of this retrospective study was to assess the safety and efficacy of a slow IV administration of 1mg/kg tiludronate in a large number of horses. Each horse that received at least one tiludronate-based treatment between 2006 and August 2019 at Virginia Equine Imaging or Fairfield Equine was included in the study. Concomitant medical treatments, preliminary nonsteroidal anti-inflammato ...
DOI:
10.1016/j.jevs.2022.104007

5. Clinical characterisation of a novel paroxysmal dyskinesia in Welsh terrier dogs

Author:
D.E. Whittaker; H.A. Volk; S. De Decker; J. Fenn
Source:
veterinary journal 2022 v.281 pp. 105801
ISSN:
1090-0233
Subject:
disease course,   etc   ; consciousness; dyskinesia; head; magnetism; posture; questionnaires; surveys; veterinary medicine;     Show all 9 Subjects
Abstract:
... Breed specific paroxysmal dyskinesias are increasingly recognised in veterinary medicine. We aimed to characterise the phenomenology, clinical course and prevalence of a previously unreported paroxysmal dyskinesia in the Welsh terrier breed. Clinical records of five Welsh terriers with paroxysmal episodes were reviewed. Additionally, owners of Welsh terriers were invited to complete a questionnair ...
DOI:
10.1016/j.tvjl.2022.105801

6. Accessory articulation of the transverse processes in the cervical spine

Author:
Mayilone Sathialingam; Jonathan Lee; Tyler Ard; Vishal Patel
Source:
Radiology case reports 2022 v.17 no.7 pp. 2432-2436
ISSN:
1930-0433
Subject:
disease course,   etc   ; augmented reality; cervical spine; geometry; hypertrophy; males; models; patients; radiology;     Show all 9 Subjects
Abstract:
... Accessory articulation between the transverse processes of the C6 and C7 vertebrae is an extremely rare anatomic variant that has only been previously described in two instances. In this report, we present the case of a 25-year-old male who sustained numerous injuries associated with a physical assault. A CT study of the cervical spine revealed a linear lucency mimicking a fracture but found on cl ...
DOI:
10.1016/j.radcr.2022.03.012

7. Using systemic serum amyloid A as a biomarker for synovial structure infections in horses with acute limb wounds

Author:
Anke‐Charlotte Müller; Kathrin Büttner; Michael Röcken
Source:
Veterinary record 2022 v.191 no.2 pp. e1841
ISSN:
0042-4900
Subject:
disease course,   etc   ; amyloid; biomarkers; blood serum; body temperature; cohort studies; inflammation; lameness;     Show all 8 Subjects
Abstract:
... BACKGROUND: In postoperative monitoring of synovial structure infection due to limb wounds, early recognition of a recurrence of synovial infection is indispensable to prevent further damage to the affected synovial structure. This study evaluated the role of serum amyloid A (SAA) as a systemic biomarker in disease monitoring and correlated this tool with clinical variables. METHODS: In this prosp ...
DOI:
10.1002/vetr.1841

8. Hypoglycemia and presumptive rhabdomyolysis secondary to lisdexamfetamine toxicosis in 3 cats

Author:
Catherine Crecraft; Jennifer Prittie; Alicia Mastrocco
Source:
Journal of veterinary emergency and critical care 2022 v.32 no.1 pp. 113-118
ISSN:
1479-3261
Subject:
disease course,   etc   ; amphetamine; creatine kinase; dexmedetomidine; hypoglycemia; ingestion; phenothiazines; poisoning; rhabdomyolysis; toxicity;     Show all 10 Subjects
Abstract:
... OBJECTIVE: To describe the clinical course and novel biochemical changes in 3 cats with lisdexamfetamine (LDX) toxicosis. SERIES SUMMARY: Three cats presented with LDX exposure and initially displayed typical clinical signs of amphetamine toxicosis. However, over the course of hospitalization, hypoglycemia and markedly elevated creatine kinase levels consistent with rhabdomyolysis ensued. All cats ...
DOI:
10.1111/vec.13150

9. Expression of Fibroblast Activation Protein Is Enriched in Neuroendocrine Prostate Cancer and Predicts Worse Survival

Author:
Panagiotis J. Vlachostergios; Athanasios Karathanasis; Vassilios Tzortzis
Source:
Genes 2022 v.13 no.1 pp. -
ISSN:
2073-4425
Subject:
disease course,   etc   ; fibroblasts; gene expression; genomics; metastasis; phenotype; prognosis; prostatic neoplasms; taxanes;     Show all 9 Subjects
Abstract:
... Background: Advanced prostate cancer (PC) may accumulate genomic alterations that hallmark lineage plasticity and transdifferentiation to a neuroendocrine (NE) phenotype. Fibroblast activation protein (FAP) is a key player in epithelial-to-mesenchymal transition (EMT). However, its clinical value and role in NE differentiation in advanced PC has not been fully investigated. Methods: Two hundred an ...
DOI:
10.3390/genes13010135

10. CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses

Author:
Rajech Sharkia; Abdelnaser Zalan; Hazar Zahalka; Amit Kessel; Ayman Asaly; Wasif Al-Shareef; Muhammad Mahajnah
Source:
Genes 2022 v.13 no.8 pp. -
ISSN:
2073-4425
Subject:
disease course,   etc   ; bioinformatics; childhood; cognitive disorders; decline; dementia; epilepsy; genes; heterozygosity; neurons; phenotype;     Show all 11 Subjects
Abstract:
... The CLN8 disease type refers to one of the neuronal ceroid lipofuscinoses (NCLs) which are the most common group of neurodegenerative diseases in childhood. The clinical phenotypes of this disease are progressive neurological deterioration that could lead to seizures, dementia, ataxia, visual failure, and various forms of abnormal movement. In the current study, we describe two patients who presen ...
DOI:
10.3390/genes13081393

11. Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child

Author:
Martha Caterina Faraguna; Francesca Musto; Viola Crescitelli; Maria Iascone; Luigina Spaccini; Davide Tonduti; Tiziana Fedeli; Gaia Kullmann; Francesco Canonico; Alessandro Cattoni; Fabiola Dell’Acqua; Carmelo Rizzari; Serena Gasperini
Source:
Genes 2022 v.13 no.3 pp. -
ISSN:
2073-4425
Subject:
disease course,   etc   ; children; genes; heart; males; mucopolysaccharidosis; mutation; patients; quality of life; therapeutics;     Show all 10 Subjects
Abstract:
... Mucopolysaccharidosis-plus syndrome (MPS-PS) is a novel autosomal recessive disorder caused by a mutation in the VPS33A gene. This syndrome presents with typical symptoms of mucopolysaccharidosis, as well as congenital heart defects, renal, and hematopoietic system disorders. To date, twenty-four patients have been described. There is no specific therapy for MPS-PS; clinical management is therefor ...
DOI:
10.3390/genes13030442

12. Genetics of Type 2 Diabetes: Past, Present, and Future

Author:
Markku Laakso; Lilian Fernandes Silva
Source:
Nutrients 2022 v.14 no.15 pp. -
ISSN:
2072-6643
Subject:
disease course,   etc   ; noninsulin-dependent diabetes mellitus; obesity; pathophysiology; people; precision medicine; risk; sedentary lifestyle;     Show all 8 Subjects
Abstract:
... Diabetes has reached epidemic proportions worldwide. Currently, approximately 537 million adults (20–79 years) have diabetes, and the total number of people with diabetes is continuously increasing. Diabetes includes several subtypes. About 80% of all cases of diabetes are type 2 diabetes (T2D). T2D is a polygenic disease with an inheritance ranging from 30 to 70%. Genetic and environment/lifestyl ...
DOI:
10.3390/nu14153201

13. Point prevalence and clinical course of proteinuria in dogs with idiopathic non‐erosive immune‐mediated polyarthritis

Author:
L. Barker; S. McManus; S. Adamantos; V. Black
Source:
journal of small animal practice 2022 v.63 no.8 pp. 619-623
ISSN:
0022-4510
Subject:
disease course,   etc   ; arthritis; cell biology; drug therapy; immunosuppression; prednisolone; proteinuria; small animal practice; urinalysis;     Show all 9 Subjects
Abstract:
... OBJECTIVES: To describe the point prevalence and clinical course of proteinuria in dogs diagnosed with idiopathic non‐erosive immune‐mediated polyarthritis. MATERIALS AND METHODS: Cases presenting to a single referral centre with a diagnosis of idiopathic non‐erosive immune‐mediated polyarthritis were retrospectively recruited from January 2009 to August 2018. Data including signalment, urinalysis ...
DOI:
10.1111/jsap.13503

14. The Role of Nutrition in Immune-Mediated, Inflammatory Skin Disease: A Narrative Review

Author:
Federico Diotallevi; Anna Campanati; Emanuela Martina; Giulia Radi; Matteo Paolinelli; Andrea Marani; Elisa Molinelli; Matteo Candelora; Marina Taus; Tiziana Galeazzi; Albano Nicolai; Annamaria Offidani
Source:
Nutrients 2022 v.14 no.3 pp. -
ISSN:
2072-6643
Subject:
disease course,   etc   ; alopecia; atopic dermatitis; diet; etiology; human nutrition; humans; lifestyle; medicine; psoriasis; therapeutics;     Show all 11 Subjects
Abstract:
... Immune-mediated inflammatory skin diseases are characterized by a complex multifactorial etiology, in which genetic and environmental factors interact both in genesis and development of the disease. Nutrition is a complex and fascinating scenario, whose pivotal role in induction, exacerbation, or amelioration of several human diseases has already been well documented. However, owing to the complex ...
DOI:
10.3390/nu14030591

15. Endobronchial Valve Treatment of Tuberculous Cavities in Patients with Multidrug-Resistant Pulmonary Tuberculosis: A Randomized Clinical Study

Author:
Huiru An; Xiao Liu; Tianhao Wang; Lin Liu; Mengdie Yan; Jing Xu; Tao Wang; Wenping Gong; Zhongyuan Wang
Source:
Pathogens 2022 v.11 no.8 pp. -
ISSN:
2076-0817
Subject:
disease course,   etc   ; bronchi; drainage; linezolid; morbidity; mortality; multiple drug resistance; randomized clinical trials; therapeutics; tuberculosis;     Show all 10 Subjects
Abstract:
... Background: Multidrug-resistant pulmonary tuberculosis (MDR-PTB) has become a major cause of high morbidity and mortality related to TB. Conventional drug regimens are ineffective for the treatment of MDR-PTB patients with cavities. This study aimed to evaluate the clinical efficacy and safety of one-way endobronchial valves (EBVs) for the treatment of cavities in MDR-PTB patients. Methods: MDR-PT ...
DOI:
10.3390/pathogens11080899

16. Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome

Author:
Yanireth Jimenez; Cesar Paulsen; Eduardo Turner; Sebastian Iturra; Oscar Cuevas; Guillermo Lay-son; Gabriela M. Repetto; Marcelo Rojas; Juan F. Calderon
Source:
Genes 2022 v.13 no.6 pp. -
ISSN:
2073-4425
Subject:
disease course,   etc   ; aneurysm; angiogenesis; aorta; dissection; extracellular matrix; genes; mortality; musculoskeletal system; phenotype; risk management;     Show all 11 Subjects
Abstract:
... Marfan Syndrome (MFS) is an autosomal dominant condition caused by variants in the fibrillin-1 (FBN1) gene. Cardinal features of MFS include ectopia lentis (EL), musculoskeletal features and aortic root aneurysm and dissection. Although dissection of the ascending aorta is the main cause of mortality in MFS, the clinical course differs considerably in age of onset and severity, even among individu ...
DOI:
10.3390/genes13061027

17. Conventional and Atypical Deep Penetrating Nevus, Deep Penetrating Nevus-like Melanoma, and Related Variants

Author:
Pavandeep Gill; Phyu P. Aung
Source:
Biology 2022 v.11 no.3 pp. -
ISSN:
2079-7737
Subject:
disease course,   etc   ; comparative genomic hybridization; dermis; fluorescence; histopathology; hybridization; lymph nodes; melanocytes; melanoma; metastasis; mitosis;     Show all 11 Subjects
Abstract:
... Deep penetrating nevus (DPN) is an uncommon acquired melanocytic lesion with a distinct histopathological appearance that typically behaves in an indolent manner. The lesion is characterized by a symmetrical proliferation of epithelioid to spindled melanocytes associated with abundant melanophages and wedge-shaped extension to the deep reticular dermis and subcutis. Pronounced cytologic atypia and ...
DOI:
10.3390/biology11030460

18. LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients

Author:
Ana Kosac; Jovan Pesovic; Lana Radenkovic; Milos Brkusanin; Nemanja Radovanovic; Marina Djurisic; Danijela Radivojevic; Jelena Mladenovic; Slavica Ostojic; Gordana Kovacevic; Ruzica Kravljanac; Dusanka Savic Pavicevic; Vedrana Milic Rasic
Source:
Genes 2022 v.13 no.8 pp. -
ISSN:
2073-4425
Subject:
disease course,   etc   ; alleles; cluster analysis; genotyping; glucocorticoids; haplotypes; muscular dystrophy; mutation; patients; regression analysis; therapeutics;     Show all 11 Subjects
Abstract:
... Background: Clinical course variability in Duchenne muscular dystrophy (DMD) is partially explained by the mutation location in the DMD gene and variants in modifier genes. We assessed the effect of the SPP1, CD40, and LTBP4 genes and DMD mutation location on loss of ambulation (LoA). Methods: SNPs in SPP1-rs28357094, LTBP4-rs2303729, rs1131620, rs1051303, rs10880, and CD40-rs1883832 were genotype ...
DOI:
10.3390/genes13081385

19. Unexpected Vertical Transmission of SARS-CoV-2: Discordant Clinical Course and Transmission from Mother to Newborn

Author:
Alessandra Boncompagni; Mattia De Agostini; Licia Lugli; Giliana Ternelli; Valeria Colonna; Emanuela Biagioni; Maria Paola Bonasoni; Tiziana Salviato; Liliana Gabrielli; Mirella Falconi; Fabio Facchinetti; Alberto Berardi
Source:
Microorganisms 2022 v.10 no.9 pp. -
ISSN:
2076-2607
Subject:
disease course,   etc   ; COVID-19 infection; Severe acute respiratory syndrome coronavirus 2; neonates; risk; transplacental transmission;     Show all 6 Subjects
Abstract:
... Mother-to-newborn COVID-19 transmission is mainly postnatal, but single-case reports and small case series have also described SARS-CoV-2 transplacental transmission. Unfortunately, studies regarding vertical transmission of SARS-CoV-2 lack systematic approaches to diagnosis and classification. So far, scientific evidence seems to suggest that the severity of maternal infection increases the risk ...
DOI:
10.3390/microorganisms10091718

20. Vitamin D in Inflammatory Bowel Diseases. Mechanisms of Action and Therapeutic Implications

Author:
Filippo Vernia; Marco Valvano; Salvatore Longo; Nicola Cesaro; Angelo Viscido; Giovanni Latella
Source:
Nutrients 2022 v.14 no.2 pp. -
ISSN:
2072-6643
Subject:
disease course,   etc   ; animals; blood serum; epithelium; homeostasis; immunomodulation; inflammation; intestinal microorganisms; intestines; mucins; pathophysiology; therapeutics;     Show all 12 Subjects
Abstract:
... (1) Background: Vitamin D is an immunoregulatory factor influencing intestinal homeostasis. Recent evidence supports a central role of this micronutrient in the course of Inflammatory Bowel Diseases (IBD). This narrative review aims to provide a general overview of the possible biological mechanisms of action of vitamin D and its therapeutic implications in IBD. (2) Methods: A systematic electroni ...
DOI:
10.3390/nu14020269