Dataset Information

Tic Disorder: An Unusual Presentation of Neurotoxoplasmosis in a Patient with AIDS.

ABSTRACT: Movement disorders have been increasingly recognized in patients with HIV infection and may be due to distinct causes, as opportunistic infections or medication side effects for example. Parkinsonism, tremor and hemichorea have been more frequently noted in association with HIV and opportunistic infections. However, a variety of involuntary movements have already been described. We report a case of neurotoxoplasmosis in a patient with HIV infection who presented with a dystonic tic involving ocular, oral and cervical movements.

SUBMITTER: Aquino CC

PROVIDER: S-EPMC2988849 | biostudies-other | 2010

REPOSITORIES: biostudies-other

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Tic Disorder: An Unusual Presentation of Neurotoxoplasmosis in a Patient with AIDS.

Aquino Camila Catherine Henriques CC Felício André Carvalho AC Godeiro-Junior Clecio C Santos-Neto Denizart D Pedroso José Luiz JL Oliveira Acary Souza Bulle AS Silva Sônia Maria Azevedo SM Borges Vanderci V Ferraz Henrique Ballalai HB

Case reports in neurology 20101115 3

Movement disorders have been increasingly recognized in patients with HIV infection and may be due to distinct causes, as opportunistic infections or medication side effects for example. Parkinsonism, tremor and hemichorea have been more frequently noted in association with HIV and opportunistic infections. However, a variety of involuntary movements have already been described. We report a case of neurotoxoplasmosis in a patient with HIV infection who presented with a dystonic tic involving ocu ...[more]

PMID: 21113285

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Project description:BACKGROUND:A small percentage of all cases of schizophrenia have a childhood onset. The impact on the individual and family can be devastating. We report the results of genetic analyses from a patient with onset of visual hallucinations at 5 years, and a subsequent diagnosis at 9 years of schizophrenia, attention deficit hyperactivity disorder (ADHD) with hyperactivity and impulsivity, and chronic motor tic disorder. RESULTS:Karyotypic analysis found 45,XX,i(13)(q10) in all cells examined. Alpha satellite FISH of isochromosome 13 revealed a large unsplit centromeric region, interpreted as two centromeres separated by minimal or undetectable short-arm material or as a single monocentric centromere, indicating that the isochromosome likely formed post-zygotically by a short arm U-type or centromeric exchange. Characterization of chromosome 13 simple tandem repeats and Affymetrix whole-genome 6.0 SNP array hybridization found homozygosity for all markers, and the presence of only a single paternal allele in informative markers, consistent with an isodisomic isochromosome of paternal origin. Analysis of two chromosome 13 schizophrenia candidate genes, D-amino acid oxidase activator (DAOA) and 5-hydroxytryptamine (serotonin) receptor 2A (5-HTR2A), failed to identify non-synonymous coding mutations but did identify homozygous risk polymorphisms. CONCLUSIONS:We report a female patient with childhood-onset schizophrenia, ADHD, and motor tic disorder associated with an isodisomic isochromosome 13 of paternal origin and a 45,XX,i(13)(q10q10) karyotype. We examined two potential mechanisms to explain chromosome 13 involvement in the patient's pathology, including reduction to homozygosity of a paternal mutation and reduction to homozygosity of a paternal copy number variation, but were unable to identify any overtly pathogenic abnormality. Future studies may consider whether epigenetic mechanisms resulting from uniparental disomy (UPD) and the lack of chromosome 13 maternal alleles lead to the patient's features.

Project description:Introduction. Patient decision aid (PDA) certification standards recommend including the positive and negative features of each option of the decision. This review describes the inclusion of concepts related to overdiagnosis and overtreatment, negative features often ambiguously defined, in cancer screening PDAs. Methods. Our process followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We reviewed 1) current systematic reviews of decision aids, 2) the Ottawa Hospital Research Institute Decision Aid Library Inventory, and 3) a web-based, gray literature search. Two independent reviewers identified and evaluated PDAs using content analysis. Reviewers coded whether overdiagnosis/overtreatment was described as 1) detecting cancer that would not lead to death, 2) detecting cancer that would not cause symptoms, and/or 3) a potential harm or consequence of screening. Coding discrepancies were resolved through consensus. Results. A total of 904 records (e.g., articles, PDAs) were reviewed and 85 PDAs were identified: prostate (n = 36), breast (n = 26), lung (n = 10), colorectal (n = 10), and other (n = 3). Sixty-seven PDAs included concepts related to overdiagnosis/overtreatment; 57 (67.1%) used a term other than overdiagnosis/overtreatment, 23 (27.1%) used the specific term "overdiagnosis," and 13 (15.3%) used "overtreatment." PDAs described overdiagnosis/overtreatment as a potential harm or consequence of screening (n = 62) and/or a detection of a cancer that would not cause symptoms (n = 49). Thirty-six described overdiagnosis as the detection of a cancer that would not result in death. Twenty PDAs described the probabilities associated with overdiagnosis/overtreatment. Conclusions. Over three quarters of cancer screening PDAs addressed concepts related to overdiagnosis/overtreatment, yet terminology was inconsistent and few included probability estimates. Consistent terminology and minimum standards to describe overdiagnosis/overtreatment would help guide the design and certification of cancer screening PDAs.

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Dataset Information

Tic Disorder: An Unusual Presentation of Neurotoxoplasmosis in a Patient with AIDS.

Publications

Tic Disorder: An Unusual Presentation of Neurotoxoplasmosis in a Patient with AIDS.

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