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1.
Phys Eng Sci Med ; 47(1): 7-15, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38315415

ABSTRACT

The Australasian College of Physical Scientists and Engineers in Medicine (ACPSEM) has not previously made recommendations outlining the requirements for physics plan checks in Australia and New Zealand. A recent workforce modelling exercise, undertaken by the ACPSEM, revealed that the workload of a clinical radiation oncology medical physicist can comprise of up to 50% patient specific quality assurance activities. Therefore, in 2022 the ACPSEM Radiation Oncology Specialty Group (ROSG) set up a working group to address this issue. This position paper authored by ROSG endorses the recommendations of the American Association of Physicists in Medicine (AAPM) Task Group 218, 219 and 275 reports with some contextualisation for the Australia and New Zealand settings. A few recommendations from other sources are also endorsed to complete the position.


Subject(s)
Radiation Oncology , Humans , Australia , Physics , New Zealand , Workforce
2.
PLoS One ; 16(12): e0260241, 2021.
Article in English | MEDLINE | ID: mdl-34871300

ABSTRACT

BACKGROUND: Gaucher's disease is associated with a high variety of structural and functional abnormalities in the eye, which do not always affect visual acuity. The purpose of this study was to analyse ocular features in Spanish patients with Gaucher's disease type I, and to investigate their possible correlation with phenotypic and burden parameters of this entity. METHODS: This cross-sectional observational study compared parameters belonging to 18 eyes from 9 Spanish patients with Gaucher's disease Type I with 80 eyes from 40 healthy controls. Complete ophthalmological examination included choroidal and retinal thickness maps with swept source optical coherence tomography. Systemic analysis included genotype, plasmatic biomarkers, [ferritin, chemokine ligand 18 (CCL18) and chitotriosidase (ChT)] and severity scoring systems results ["Gaucher Disease Severity Score Index Type I" (GauSSI-I) and "Gaucher disease severity scoring system" (GD-DS3)]. RESULTS: Nine subjects (18 eyes) were cases (female: 55.5%, mean age 45 years; male: 44.5%, mean age 36 years) and 40 subjects (80 eyes) were controls (female: 49%, mean age 50 years; male: 51%, mean age 55 years). There were no statistically significant differences when comparing ocular parameters (visual acuity; axial length, refractive errors, corneal parameters, lens, retinal and choroidal thickness) between case and control subjects (p>0.05). A statistically significant moderate correlation was observed between lower retinal thickness and choroidal quadrants thickness and greater disease severity scores. A lower central retinal thickness also correlates with higher biological plasmatic levels, and has a statistically significant association with the most affected patient with genotype N370S/Del 55pb. Conversely, higher pachymetry involves a more severe plasmatic concentration of biomarkers. CONCLUSIONS: Our results suggest that pachymetry, and retinal and choroidal thickness, are associated with burden biomarkers and disease severity index scores in Spanish patients with Gaucher's disease Type I.


Subject(s)
Choroid/pathology , Cornea/pathology , Gaucher Disease/pathology , Mutation , Retina/pathology , Adult , Choroid/diagnostic imaging , Choroid/metabolism , Cornea/diagnostic imaging , Cornea/metabolism , Corneal Pachymetry , Cross-Sectional Studies , Female , Gaucher Disease/diagnostic imaging , Gaucher Disease/genetics , Gaucher Disease/metabolism , Genetic Loci , Humans , Male , Middle Aged , Reactive Oxygen Species/metabolism , Retina/diagnostic imaging , Retina/metabolism , Severity of Illness Index , Spain , Tomography, Optical Coherence , Visual Acuity
3.
Mult Scler Relat Disord ; 38: 101466, 2020 Feb.
Article in English | MEDLINE | ID: mdl-31715500

ABSTRACT

BACKGROUND: The presence of white mater lesions in the central nervous system forces the differential diagnosis between multiple sclerosis (MS) and Anderson-Fabry disease (FD). Due to the type of inheritance, linked to the X chromosome, the diagnosis of FD is especially difficult in women. Tissue´s deposits of globotriaosylceramide (Gb3) are characteristics for FD and the deacylated form of Gb3 (Globotriaosylsphingosine or LysoGb3) is specific for this entity. Our objective is to investigate if concentrations of plasma Lyso-Gb3 are useful for ruling out the FD in a Spanish cohort of patients with a previous diagnosis of MS. METHODS: we evaluated the α-galactosidase A enzymatic activity in 154 patients with a previous diagnosis of MS (93 women and 61 men): 103 Relapsing Remitting MS patients, 19 progressive MS patients and 32 with the clinically isolated syndrome. 116 (75% of the patients) were on MS disease modifying therapy. Enzymatic assay was completed in all cases and done on dried blood spot (DBS) samples. Subsequently the GLA gene was sequenced only in males and females who presented an enzymatic assay significantly lower than standardized controls (<50% for men and <75% for women). For subjects with GLA variants, plasma Lyso-Gb3 levels were performed by Tandem mass spectrometry from DBS, assuming a cut-off point for normality <3.5 ng/mL. RESULTS: Genetic study was carried out in 30 women and 7 men; 8 of them had non-previous described GLA variants. After a thorough clinical examination no organic disease was found in any of the classical target organs. The study of Lyso-Gb3 concentrations in DBS was lower than 3.5 ng/mL, allowing us to discharge FD in all subjects and to consider these GLA variants like non pathologic. CONCLUSIONS: Lyso-Gb3 concentration in DBS is a useful tool to rule out Fabry disease in patients with MS. A concentration of LysoGb3 < 3.5 ng/mL rules out FD.


Subject(s)
Fabry Disease/blood , Fabry Disease/diagnosis , Glycolipids/blood , Multiple Sclerosis/blood , Multiple Sclerosis/diagnosis , Sphingolipids/blood , Aged , Biomarkers/blood , Diagnosis, Differential , Dried Blood Spot Testing , Female , Humans , Male , Middle Aged , Young Adult
4.
Front Public Health ; 7: 289, 2019.
Article in English | MEDLINE | ID: mdl-31649914

ABSTRACT

Objective: Pneumocystis colonization is frequent in patients with chronic obstructive pulmonary disease (COPD) producing local and systemic inflammation. Heart failure is also a common comorbidity among patients with COPD. Heart failure is a chronic, frequent, and disabling condition with high morbidity and mortality, but with a modifiable course where endothelial dysfunction and pulmonary arterial hypertension have great importance. Animal models have shown that Pneumocystis infection can cause relevant functionally changes in vascular responses in the lung, promoting the development of pulmonary hypertension. Pneumocystis colonization could be a hidden cause of worsening heart failure through it capacity to induce inflammatory response with subsequent endothelial dysfunction and pulmonary hypertension. The aim of the present study was to investigate the prevalence of Pneumocystis jirovecii colonization in heart failure patients and its possible association with reduced or preserved ejection fraction. Methods: A cross-sectional study was carried out including 36 heart failure patients and 36 control cases. Identification of P. jirovecii colonization was performed by means of molecular techniques in oropharyngeal washing. Results: Pneumocystis-DNA was identified in oropharyngeal washing in 1 (2.7%) of 36 heart failure patients and in 3 (8.3%) of 36 controls. Conclusions: Pneumocystis colonization does not seem to have a role in the pathophysiology of heart failure.

5.
Mol Genet Metab ; 104(3): 301-7, 2011 Nov.
Article in English | MEDLINE | ID: mdl-21795086

ABSTRACT

Fabry disease (FD) is a lysosomal storage disorder caused by mutations in the α-galactosidase A gene. It is characterized by the deposition of the incompletely metabolized substrate globotriaosylceramide in several cell types and multisystem involvement. Major morbidity results from renal, cardiac and cerebrovascular pathology, mediated by endothelial dysfunction. We examined the potential utility of Cystatin C and natriuretic peptides as biomarkers in FD, and evaluated serum levels in 89 FD patients with varying degrees of disease severity. The results revealed that as a prognostic marker, Cystatin C is a good and cost effective indicator of early renal dysfunction and/or heart failure in FD. It is also more useful than serum creatinine in detecting mild renal damage and small decreases in glomerular filtration. In addition, the natriuretic peptide NT-proBNP, was elevated in patients with FD and cardiac involvement, and found to be an adequate detection marker, not only of cardiac involvement, but also of diastolic dysfunction.


Subject(s)
Biomarkers/blood , Cystatin C/blood , Enzyme Replacement Therapy , Fabry Disease/blood , Fabry Disease/diagnosis , Natriuretic Peptide, Brain/blood , Peptide Fragments/blood , Phenotype , Adolescent , Adult , Aged , Fabry Disease/drug therapy , Female , Glomerular Filtration Rate/physiology , Humans , Kidney/metabolism , Kidney/pathology , Logistic Models , Male , Middle Aged , ROC Curve , Statistics, Nonparametric
7.
Enferm. infecc. microbiol. clín. (Ed. impr.) ; 28(3): 162-168, mar. 2010. ilus, tab
Article in Spanish | IBECS | ID: ibc-83953

ABSTRACT

Introducción La peritonitis tuberculosa (PT) es una forma de tuberculosis abdominal que constituye el 1–3% del total de la enfermedad tuberculosa, con una clínica que a menudo suele ser inespecífica. Métodos Se revisan los casos de PT diagnosticados en un período de 16 años, y se analizan diferentes datos epidemiológicos, clínicos, diagnósticos y evolutivos. Resultados De 462 casos de tuberculosis extrapulmonar, 13 casos se diagnosticaron de PT (2,8%) y sólo uno de ellos estaba infectado por el virus de la inmunodeficiencia adquirida. En la mayoría de ellos, el diagnóstico fue histológico; en 5 casos, el cultivo del líquido ascítico fue positivo y fue el único método diagnóstico en 3 de ellos. En un caso se aisló una cepa Beijing de Mycobacterium tuberculosis multirresistente; el resto de las cepas aisladas fueron sensibles a los tuberculostáticos clásicos. Se estableció tratamiento con 3 fármacos tuberculostáticos en 10 casos, y en otros 2 se estableció tratamiento con 4 tuberculostáticos; 8 pacientes evolucionaron favorablemente y 5 pacientes fallecieron debido a complicaciones de su enfermedad de base. Conclusión La PT puede desarrollarse sin que exista evidencia de enfermedad tuberculosa concomitante; habitualmente requiere estudio histológico para su confirmación y su pronóstico es bueno con tratamiento precoz (AU)


INTRODUCTION: Peritoneal tuberculosis (PT) is a form of abdominal tuberculosis that accounts for 1%-3% of all cases of tuberculous disease and often manifests with non-specific symptoms. METHODS: Cases of PT diagnosed over a period of 16 years are reviewed and the epidemiological, clinical, diagnostic, and outcome data are analyzed. RESULTS: Among 462 patients with extrapulmonary tuberculosis, PT was documented in 13 patients (2.8%), only one whom was infected by human immunodeficiency virus. In most patients, the diagnosis was established on histological findings. In 5 cases, ascitic fluid culture was positive, and the diagnosis was established by this method alone in 3 of them. A multidrug-resistant Mycobacterium tuberculosis Beijing strain was isolated in one patient. The remaining strains isolated were sensitive to classic antituberculosis drugs. Ten patients were treated with 3 antituberculosis agents and 2 were treated with 4 drugs. Eight patients progressed favorably (..) (AU)


Subject(s)
Humans , Male , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Peritonitis, Tuberculous , Hospitals, General , Peritonitis, Tuberculous/diagnosis , Peritonitis, Tuberculous/drug therapy , Peritonitis, Tuberculous/epidemiology , Time Factors
8.
Enferm Infecc Microbiol Clin ; 28(3): 162-8, 2010 Mar.
Article in Spanish | MEDLINE | ID: mdl-19913951

ABSTRACT

INTRODUCTION: Peritoneal tuberculosis (PT) is a form of abdominal tuberculosis that accounts for 1%-3% of all cases of tuberculous disease and often manifests with non-specific symptoms. METHODS: Cases of PT diagnosed over a period of 16 years are reviewed and the epidemiological, clinical, diagnostic, and outcome data are analyzed. RESULTS: Among 462 patients with extrapulmonary tuberculosis, PT was documented in 13 patients (2.8%), only one whom was infected by human immunodeficiency virus. In most patients, the diagnosis was established on histological findings. In 5 cases, ascitic fluid culture was positive, and the diagnosis was established by this method alone in 3 of them. A multidrug-resistant Mycobacterium tuberculosis Beijing strain was isolated in one patient. The remaining strains isolated were sensitive to classic antituberculosis drugs. Ten patients were treated with 3 antituberculosis agents and 2 were treated with 4 drugs. Eight patients progressed favorably and 5 died due to complications of their underlying medical conditions. CONCLUSION: Peritoneal tuberculosis can develop without evidence of concomitant tuberculous disease. Histology is usually needed to confirm the diagnosis, and the prognosis is good with prompt treatment.


Subject(s)
Peritonitis, Tuberculous , Adolescent , Adult , Aged , Aged, 80 and over , Female , Hospitals, General , Humans , Male , Middle Aged , Peritonitis, Tuberculous/diagnosis , Peritonitis, Tuberculous/drug therapy , Peritonitis, Tuberculous/epidemiology , Time Factors , Young Adult
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