Mult Scler J Exp Transl Clin
December 2024
Intermediate uveitis (IU) may be associated with multiple sclerosis (MS), with both conditions possibly sharing pathogenic mechanisms Two patients presented with bilateral IU. Despite targeted uveitis treatment with corticosteroids and methotrexate, both had ongoing disease activity with symptoms, and fluorescein angiographic abnormalities. Both were subsequently identified to have radiologically isolated MS in the absence of clinical demyelination.
View Article and Find Full Text PDFThere are currently no practice guidelines available for genetic counseling using telehealth modalities. This evidence-based practice guideline was developed in response to increasing use of alternative service delivery models for genetic counseling, specifically telephone and video-based genetic counseling (telehealth genetic counseling or THGC). A recent systematic evidence review (SER) compared outcomes of THGC with in-person genetic counseling and found that for the majority of studied outcomes, THGC was a non-inferior and comparable service delivery model.
View Article and Find Full Text PDFPurpose: The ocular surface microbiota are recognised as one of causative microorganisms in post-procedural endophthalmitis but in many cases the vitreous tap is culture negative. This study investigated bacterial contamination of intravitreal (IVT) needles using multiple approaches covering culturing, 16S rRNA gene sequencing, fluorescent in situ hybridisation (FISH) and scanning electron microscopy (SEM).
Methods: IVT needles were obtained immediately after injection from patients undergoing treatment for predominantly age-related macular degeneration.
Purpose: The classification of germline variants may differ between labs and change over time. We apply a variant harmonization tool, Ask2Me VarHarmonizer, to map variants to ClinVar and identify discordant variant classifications in a large multipractice variant dataset.
Methods: A total of 7496 variants sequenced between 1996 and 2019 were collected from 11 clinical practices.
Purpose: Oncology care reimbursement has been shifting from a traditional fee-for-service model to either 1- or 2-sided risk models during the past 5 years. A major expense associated with the total cost of care is hospitalization cost. The study set out to investigate whether the creation of an Advanced Community Care Model (ACCM) of home health care would affect 60-day hospitalization and 30-rehospitalization rates in a community oncology setting.
View Article and Find Full Text PDFA 78-year-old Caucasian man with significant vascular disease reported sudden onset of worsened vision during a routine wound-care appointment for nonhealing necrotic leg ulcers. He described painless blurring of vision with grey scotomas in his right eye, his only well-seeing eye, after trauma to the left eye as a child. He presented with retinal ischemia, a cotton wool spot, and optic nerve swelling.
View Article and Find Full Text PDFBackground: As panel testing becomes more common in clinical practice, it is important to understand the prevalence and trends associated with the pathogenic variants (PVs) identified. This is especially true for genetically heterogeneous cancers, such as breast cancer (BC), in which PVs in different genes may be associated with various risks and cancer subtypes. The authors evaluated the outcomes of genetic testing among women who had a personal history of BC.
View Article and Find Full Text PDFBackground: This study assessed BRCA1 and BRCA2 mutation prevalence in an unselected cohort of patients with triple-negative breast cancer (BC).
Methods: One hundred ninety-nine patients were enrolled. Triple negativity was defined as <1% estrogen and progesterone staining by immunohistochemistry and HER-2/neu not overexpressed by fluorescence in situ hybridization.
Objective: To describe the clinical features and outcomes of a large group of patients with a spectrum of clinical appearances and diagnosed as having punctate inner choroidopathy (PIC).
Methods: In a retrospective consecutive case series, patients seen during a 16-year period at Moorfields Eye Hospital who were diagnosed as having PIC and had a minimum of 12 months' follow-up were included. Patients were classified as having typical PIC or atypical PIC (larger, presumed ocular histoplasmosis syndrome-like lesions).
Purpose: We previously reported that four cycles of docetaxel/cyclophosphamide (TC) produced superior disease-free survival (DFS) compared with four cycles of doxorubicin/cyclophosphamide (AC) in early breast cancer. Older women are under-represented in adjuvant chemotherapy trials. In our trial 16% of patients were > or = 65 years.
View Article and Find Full Text PDFPurpose: To characterize the clinical, psychophysical, and electrophysiological phenotype of 19 patients with enhanced S-cone syndrome (ESCS) and relate the phenotype to the underlying genetic mutation.
Methods: Patients underwent ophthalmic examination and functional testing including pattern ERG, full-field ERG, and long-duration and short-wavelength stimulation. Further tests were performed in some patients, including color contrast sensitivity (CCS), multifocal ERG, fundus autofluorescence imaging (FAI), optical coherence tomography (OCT), and fundus fluorescein angiography (FFA).
Purpose: The combination of doxorubicin and cyclophosphamide (AC) is a standard adjuvant chemotherapy regimen. Studies of docetaxel and cyclophosphamide (TC) in metastatic breast cancer (MBC) showed promise in MBC. In 1997, we initiated a randomized adjuvant trial of TC compared with standard-dose AC with a primary end point of disease-free survival (DFS).
View Article and Find Full Text PDFThis study explores if advanced NSCLC patients with ECOG PS 2 and age
Safety concerns combined with the greatly increased costs and difficulties of maintaining the blood supply are major considerations for transfusion services. Previous local surveys demonstrated that hospital blood use at our hospital could be improved. Excessive cross-matching, unnecessary transfusion and high return rates of unused blood were commonplace.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
September 2001
Purpose: To characterize the pathologic features in retina, optic nerve, and extraocular muscle of mitochondrial superoxide dismutase (Sod2)-deficient mice, a model of increased mitochondrial production of reactive oxygen species.
Methods: Morphometric and ultrastructural study of eyes of 43 homozygous sod2(tm1Cje-/-) mice and wild-type control animals. For retinal morphometric analysis, 32 manganese 5,10,15,20-tetrakis (4-benzoic acid) porphyrin (MnTBAP)-treated animals aged either 9 to 10 days or 20 to 21 days were studied.
Electrophysiologic testing of the visual system and ancillary imaging investigations may be crucial aids for correctly diagnosing patients with unexplained visual loss or isolated disc pallor. These patients may harbor a retinal disease process and not an optic neuropathy. A diverse range of retinal conditions may present in this manner, and misdiagnosis may lead to unnecessary neurologic investigation and subsequent delay in therapeutic intervention.
View Article and Find Full Text PDFEfficient use of blood is desirable due to increased demand for blood, shortfall in donations, and the risk of mismatch transfusion accidents and transfusion-transmitted infections. We surveyed transfusion practice in three hospitals. Low haemoglobin was a feature in 91% of transfusion requests and is the commonest 'trigger' for transfusion.
View Article and Find Full Text PDFOphthalmology
October 1999
Objective: To quantify the relationship between myopia and open-angle glaucoma, ocular hypertension (OH), and intraocular pressure (IOP) in a representative older population.
Design: Cross-sectional population-based study of 3654 Australians 49 to 97 years of age.
Methods: Subjects with any myopia (> or =-1.
Background: This multicenter, Phase II trial was performed to evaluate the antitumor activity and toxicity of irinotecan (CPT-11) in patients with metastatic colorectal carcinoma that had recurred or progressed after 5-fluorouracil (5-FU)-based chemotherapy.
Methods: CPT-11 was given as a 90-minute intravenous infusion in repeated 6-week (42-day) courses comprising weekly treatment for 4 consecutive weeks followed by a 2-week rest. Tumor measurements were obtained after every second course of therapy.
Differentiating heart valve-related fragmentation hemolysis from other causes of hemolysis can occasionally be difficult, especially when findings on transthoracic or transesophageal echocardiography are minimal. We report a case in which the cause of hemolysis remained in doubt after thorough hematologic and cardiologic evaluations. The decision to reoperate on the valve was finally made, based on the result of exercise-induced increase in serum hemoglobin.
View Article and Find Full Text PDFAust N Z J Ophthalmol
August 1998
Background: The Heimann-Bielschowsky phenomenon (HBP) is a unilateral vertical nystagmus with coarse, slow pendular movements that typically occurs in an eye with profound visual loss. There are no sinister neurological implications.
Methods: Symptoms and signs on presentation and the subsequent course are described in detail in 10 patients.
Latencies of eye movements to peripheral targets are reduced when there is a short delay (typically 200 ms) between the offset of a central visual fixation point and the target onset. This has been termed the gap effect. In addition, some subjects, usually with practice, exhibit a separate population of very short latency saccades, called express saccades.
View Article and Find Full Text PDFPurpose: The antiemetic effectiveness and safety of single-dose oral granisetron were compared with intravenous (I.V.) ondansetron in chemotherapy-naive patients who received moderately emetogenic chemotherapy.
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