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1.
Drugs Real World Outcomes ; 8(3): 325-335, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33834380

RESUMO

OBJECTIVE: The primary objectives of this prospective cross-sectional study were to estimate the prevalence of drug-related long QT syndrome (LQTS) and the prevalence of use of QT-prolonging drugs in older patients admitted to an internal medicine unit. METHODS: We screened consecutive patients hospitalized in an internal medicine unit over a 2-year period. A 12-lead electrocardiogram using an electrocardiograph with automated measurement of QT interval was recorded. Patient characteristics (age, sex, body mass index), drug treatments, and variables associated with QT interval prolongation, including hypothyroidism, type 2 diabetes mellitus, and cardiac disease, were also recorded. In addition, we also measured serum levels of potassium, calcium, magnesium, and creatinine at admission. The list of medications known to cause or to contribute to LQTS was obtained from CredibleMeds®. RESULTS: A total of 243 patients were enrolled: mean ± standard deviation age, 79.65 ± 8.27 years; males, n = 121 (40.8%); mean corrected QT (QTc) interval, 453.70 ± 43.77 ms. Overall, 89/243 (36.6%) patients had a prolonged QTc interval, with 29/243 (11.9%) having QTc interval prolongation > 500 ms (11.9%). A vast majority were prescribed at least one QT-prolonging drug (218/243 [89.7%]), whereas 74/218 (30.5%) were receiving at least one medication with a known risk of Torsades des Pointes (TdP). Proton pump inhibitors were the second most commonly prescribed class of drugs. After logistic regression, male sex was independently associated with LQTS (odds ratio 2.85; 95% confidence interval 1.56-5.22; p = 0.001). CONCLUSIONS: The prevalence of LQTS with QTc interval > 500 ms in geriatric inpatients was > 10%, and QT-prolonging drugs were frequently used on admission (more than 30% of patients were receiving drugs with a known risk of TdP).

2.
Doc Ophthalmol ; 137(1): 25-36, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29987673

RESUMO

PURPOSE: Joubert syndrome (JS) is an inherited autosomal recessive or X-lined disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features. It is estimated that retinal dystrophy is present in association with the typical neurological findings in about one-third of the patients. The aim of this study is to better characterize the macular region in JS patients with and without retinal dystrophy. METHODS: We describe six individuals affected by JS as demonstrated by the presence of the typical "molar tooth sign" on MRI. The presence of retinal dystrophy was assessed by fundus examination and electrophysiology by means of full-field electroretinogram (ERG) and visual evoked potentials (VEP) at five spatial frequencies (300-15 min of arc). The macular region was examined with spectral domain optical coherence tomography (SD-OCT). All the exams were performed in awake conditions. All the patients underwent next-generation-sequencing analysis of known JS genes. RESULTS: Pathogenic biallelic variants in either the INPP5E gene or the AHI1 gene were detected in two pairs of siblings, all positive for retinal dystrophy. Genetic testing yielded no results in the remaining two patients, one with bilateral coloboma and retinal dystrophy and the other with normal fundus appearance. Decimal best-corrected visual acuity was between 0.1 and 1.0. In the two pairs of siblings, SD-OCT revealed a posterior staphyloma centred on the fovea, in one case associated with cystoid macular oedema. Macular morphology was just slightly altered in the fifth patient and completely normal in the last patient. Refractive error was between + 2.50 diopter sphere (DS) and - 8 DS and - 4 diopter cylinder ax 45°. ERG waves were markedly lower than the normal limits in both scotopic and photopic components in the two pairs of siblings and in the fifth subject, with VEP P100 latencies and amplitudes delayed and reduced in all spatial frequencies. ERG and VEP were within normal limits in the last patient. CONCLUSIONS: To our knowledge, macular staphyloma has not been described before in JS. Further work is warranted to assess the true prevalence of staphyloma in JS and its connection to retinal dystrophy.


Assuntos
Cerebelo/anormalidades , Anormalidades do Olho/complicações , Doenças Renais Císticas/complicações , Macula Lutea/patologia , Retina/anormalidades , Distrofias Retinianas/complicações , Anormalidades Múltiplas/diagnóstico , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Adaptadoras de Transporte Vesicular , Adolescente , Adulto , Criança , Dilatação Patológica , Eletrorretinografia , Potenciais Evocados Visuais , Anormalidades do Olho/diagnóstico , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Doenças Renais Císticas/diagnóstico , Macula Lutea/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Mutação de Sentido Incorreto , Monoéster Fosfórico Hidrolases/genética , Retina/fisiopatologia , Doenças Retinianas/diagnóstico , Doenças Retinianas/etiologia , Distrofias Retinianas/diagnóstico , Distrofias Retinianas/fisiopatologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adulto Jovem
3.
Int Med Case Rep J ; 9: 377-383, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27942234

RESUMO

PURPOSE: To describe the efficacy and safety of a single intravitreal implant of dexamethasone in a patient affected by radiation maculopathy due to proton beam radiotherapy for choroidal melanoma. PATIENT AND METHODS: Retrospective data of a 46-year-old woman treated with a single intravitreal injection of dexamethasone for radiation maculopathy due to proton beam radiotherapy were collected. The main outcome measures were best-corrected visual acuity and central retinal thickness. Intraocular pressure, anterior segment evaluation with slit lamp, macular changes depicted with spectral domain optical coherence tomography, retinal perfusion studied with fundus fluorescein angiography, and grade of macular edema using the Horgan classification were also evaluated during a 16-month follow-up. RESULTS: Macular edema occurred 25 months after radiation treatment in the left eye. The patient underwent a single intravitreal implant of dexamethasone. Preinjection visual acuity and central retinal thickness were 6/12 and 502 µm, respectively. After 8 months, visual acuity was 6/6 and remained stable until 16 months. Central retinal thickness was 269 µm at 16 months. CONCLUSION: A single intravitreal implant of dexamethasone could effectively and stably improve visual acuity and central retinal thickness in some patients with radiation macular edema for 16 months after injection.

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