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Biomedical subjects

Anne Curtis

Publications and source records attributed to Anne Curtis.

6 recordsLinked to original sources
PubMed2005

Minimum prevalence of spinocerebellar ataxia 17 in the north east of England.

OBJECTIVE: To determine the minimum prevalence of spinocerebellar ataxia type 17 (SCA17) in the north east of England. PATIENTS AND METHODS: A defined region containing 2,516,500 individuals with 192 families with undiagnosed ataxia, 90 patients with a Huntington's disease-like phenotype and 292 controls. The number of (CAG/CAA)(n) repeats in the SCA17/TBP gene was determined by fluorescent PCR and sequenced in affected individuals. RESULTS: The mean repeat size for 584 control alleles was 34 (S.D.=3.58), ranging from 25 to 40. Two index cases had larger alleles with repeat lengths greater than the control range. Affected family members presented in adult life with ataxia followed by extrapyramidal features and cognitive impairment. In one family 44 repeats were associated with a younger age of onset than has been previously described. CONCLUSIONS: The minimum prevalence of SCA17 in the north east of England was 0.16/100,000 (upper 95% confidence interval 0.31/100,000).

Adolescent↗
PubMed2004

Microvolt T-wave alternans distinguishes between patients likely and patients not likely to benefit from implanted cardiac defibrillator therapy: a solution to the Multicenter Automatic Defibrillator Implantation Trial (MADIT) II conundrum.

BACKGROUND: In 2003, the Centers for Medicaid and Medicare Services recommended QRS duration as a means to identify MADIT II-like patients suitable for implanted cardiac defibrillator (ICD) therapy. We compared the ability of microvolt T-wave alternans and QRS duration to identify groups at high and low risk of dying among heart failure patients who met MADIT II criteria for ICD prophylaxis. METHODS AND RESULTS: Patients with MADIT II characteristics and sinus rhythm had a microvolt T-wave alternans exercise test and a 12-lead ECG. Our primary end point was 2-year all-cause mortality. Of 177 MADIT II-like patients, 32% had a QRS duration >120 ms, and 68% had an abnormal (positive or indeterminate) microvolt T-wave alternans test. During an average follow-up of 20+/-6 months, 20 patients died. We compared patients with an abnormal microvolt T-wave alternans test to those with a normal (negative) test, and patients with a QRS >120 ms with those with a QRS < or =120 ms; the hazard ratios for 2-year mortality were 4.8 (P=0.020) and 1.5 (P=0.367), respectively. The actuarial mortality rate was substantially lower among patients with a normal microvolt T-wave alternans test (3.8%; 95% confidence interval: 0, 9.0) than the mortality rate in patients with a narrow QRS (12.0%; 95% confidence interval: 5.6, 18.5). The corresponding false-negative rates are 3.5% and 10.2%, respectively. CONCLUSIONS: Among MADIT II-like patients, a microvolt T-wave alternans test is better than QRS duration at identifying a high-risk group and also better at identifying a low-risk group unlikely to benefit from ICD therapy.

Aged↗
PubMed2002

Gender differences in arrhythmias.

Electrocardiographic and electrophysiologic differences between men and women have long been noted. Women have a higher intrinsic heart rate than men, along with a longer corrected QT interval and a shorter sinus nodal recovery time. The incidence of and risk factors for a variety of arrhythmias differ between men and women. Atrioventricular nodal reentry tachycardia has a 2:1 female-to-male predominance, while accessory pathways are twice as frequent in men. Although atrial fibrillation is more prevalent in men of all age groups, the absolute numbers of men and women with atrial fibrillation are equal, and the associated morbidity and mortality experienced by women with atrial fibrillation appear to be worse. Women have a lower incidence of sudden cardiac death, and female survivors of sudden cardiac death have a lower frequency of spontaneous or inducible ventricular tachycardia. On the other hand, drug-induced torsade de pointes and symptomatic long QT syndrome have a female predominance. Therefore, greater caution should be used when prescribing QT-prolonging drugs in women. The incidence of arrhythmias is increased during pregnancy, and management of pregnant patients poses a significant challenge. The mechanisms of these gender differences are unclear but may be related to hormonal effects and the shorter QT interval in adult males. Pharmacologic and nonpharmacologic therapies are usually equally efficacious, but the risks of pharmacologic therapy are different in men and women. Atrial fibrillation may be more difficult to treat in women.

Arrhythmias, Cardiac↗
PubMed2002

A sperm-associated WD repeat protein orthologous to Chlamydomonas PF20 associates with Spag6, the mammalian orthologue of Chlamydomonas PF16.

cDNAs were cloned for the murine and human orthologues of Chlamydomonas PF20, a component of the alga axoneme central apparatus that is required for flagellar motility. The mammalian genes encode transcripts of 1.4 and 2.5 kb that are highly expressed in testis. The two transcripts appear to arise from alternative transcription start sites. The murine Pf20 gene was mapped to chromosome 1, syntenic with the location of the human gene on chromosome 2. An antibody generated against an N-terminal sequence of mouse Pf20 recognized a 71-kDa protein in sperm and testis extracts. Immunocytochemistry localized Pf20 to the tails of permeabilized sperm; electron microscope immunocytochemistry showed that Pf20 was located in the axoneme central apparatus. A murine Pf20-green fluorescent protein fusion protein expressed in Chinese hamster ovary cells accumulated in the cytoplasm. When coexpressed with Spag6, the mammalian orthologue of Chlamydomonas PF16, Pf20 was colocalized with Spag6 on polymerized microtubules. Yeast two-hybrid assays demonstrated interaction of the Pf20 WD repeats with Spag6. Pf20 was markedly reduced in sperm collected from mice lacking Spag6, which are infertile due to a motility defect. Our observations provide the first evidence for an association between mammalian orthologues of two Chlamydomonas proteins known to be critical for axoneme structure and function.

Algal Proteins↗
PubMedDate not supplied

Pyoderma gangrenosum with a contiguous erosion of the distal ulna.

BACKGROUND: Pyoderma gangrenosum (PG) has been described in association with sterile neutrophilic infiltration of several organ systems, including the skeleton. The most frequent cause of bony disease in PG has been chronic, recurrent, multifocal osteomyelitis, a sterile inflammatory disease of children and young adults mimicking infectious osteomyelitis. Bony erosions have been only rarely described in direct contiguity to a PG ulcer. OBJECTIVE: We report a 53-year-old woman with recurrent PG who developed an erosion of the distal ulna adjacent to a PG ulcer. The patient responded to high-dose prednisone, and a repeat radiograph of the wrist four months later was normal. CONCLUSION: This case demonstrates another example of cortical osteolysis directly adjacent to a PG ulcer in which the bony changes may be neutrophil-induced.

Bone Diseases↗