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1.
Leuk Lymphoma ; 63(9): 2224-2232, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35475716

RESUMEN

Despite a favorable effect of imatinib on glucose metabolism in animal models, human reports are inconsistent. We retrospectively studied the long-term effect of imatinib on fasting plasma glucose (FPG), glycated hemoglobin (HbA1C), LDL-cholesterol (LDL), and triglycerides (TGs) in a large HMO cohort of patients initiating therapy. In patients with diabetes (n = 118), significant reductions in HbA1c (0.53%, IQR 0.09, 1.19; p < .001) and FPG (10.2 mg/dL, IQR -3.5, 32.2; p < .001), independent of demographics and of glucose-lowering drugs utilization, were observed during the first year of imatinib treatment. Significant reductions in LDL (17.8 mg/dL, IQR -1.3, 34.0; p < .001) and TG (25.0 mg/dL, IQR -2.3, 58.3; p < .001), also independent of demographics and of statin utilization, were evident in the entire cohort (n = 611) during the first imatinib year. All reductions persisted during the second treatment year. To conclude, imatinib is associated with durable metabolic benefits, which may guide TKI choice in patients with cardiovascular co-morbidities.


Asunto(s)
Diabetes Mellitus Tipo 2 , Inhibidores de Hidroximetilglutaril-CoA Reductasas , Glucemia , LDL-Colesterol/uso terapéutico , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Hemoglobina Glucada/análisis , Hemoglobina Glucada/metabolismo , Humanos , Inhibidores de Hidroximetilglutaril-CoA Reductasas/uso terapéutico , Mesilato de Imatinib/efectos adversos , Estudios Retrospectivos , Triglicéridos/uso terapéutico
2.
Acta Clin Belg ; 74(6): 460-464, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30501482

RESUMEN

We describe a boy who presented with neonatal hypotonia, followed by delayed motor development and growth impairment. Further evaluation revealed rickets caused by proximal renal tubular dysfunction. At age 3, the boy exhibited dysmorphic features and bilateral cataract. Genetic analysis of the OCRL gene showed a novel variant in exon 13: c.1250T>A, p.Val417Asp; in silico and segregation analysis confirmed the variant to be pathogenic, compatible with the diagnosis of the oculocerebrorenal syndrome of Lowe. Lowe syndrome is a rare multisystemic disorder; the diagnostic triad requires involvement of the eye, central nervous system and the proximal renal tubule. Typical clinical features are congenital cataract, glaucoma, hypotonia, mental and behavioral problems, benign skin lesions, platelet dysfunction and dental abnormalities. Phenotypic features early in life may be nonspecific, which is illustrated by this case with a late manifestation of cataract. Because an early diagnosis can lead to better counseling and treatment, we suggest urinary testing for proteinuria as a part of the evaluation of children with unexplained hypotonia.


Asunto(s)
Hipotonía Muscular , Síndrome Oculocerebrorrenal , Monoéster Fosfórico Hidrolasas/genética , Catarata/diagnóstico , Catarata/etiología , Preescolar , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/etiología , Diagnóstico Precoz , Intervención Médica Temprana , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/etiología , Pruebas Genéticas/métodos , Humanos , Masculino , Trastornos Motores/diagnóstico , Trastornos Motores/etiología , Hipotonía Muscular/diagnóstico , Hipotonía Muscular/genética , Hipotonía Muscular/orina , Mutación , Síndrome Oculocerebrorrenal/diagnóstico , Síndrome Oculocerebrorrenal/genética , Síndrome Oculocerebrorrenal/fisiopatología
3.
Women Birth ; 23(4): 166-71, 2010 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-20739247

RESUMEN

BACKGROUND: The 'Next Birth After Caesarean' (NBAC) clinic is a dedicated service for women who have had a previous caesarean section. The midwifery-led clinic commenced at a tertiary hospital in Western Australia in 2008. As part of this service, access to a midwife via telephone is available. AIM: This paper aims to provide maternity health care providers with an increased understanding of, and insight into, the different information needs of this specific group of maternity care consumers. METHODS: A qualitative descriptive approach was used to analyse the content of 170 telephone calls made by women to the NBAC clinic over a period of 16 months (July 2008-November 2009). RESULTS: Six distinct categories of calls were elicited from the analysis process with the majority of calls related to women seeking information and support about the option of vaginal birth after caesarean (VBAC). These were labeled: 'Wanting and seeking a VBAC'; 'Is VBAC a possiblility?'; 'Seeking clarification and cross-checking information in the face of opposition'; 'Existing NBAC clients checking in/checking out'; 'Feeling distressed and disappointed; wanting to talk' and 'Professional inquiry about NBAC service'. DISCUSSION: It is acknowledged that women require access to non-biased information to be able to make informed decisions about birth after caesarean. However there remains limited evidence on the precise informational needs of these women. It appears from our findings that this particular group of maternity service consumers requires opportunities to discuss their particular needs within the context of their individual childbearing experiences. CONCLUSION: Preliminary evidence is provided that a telephone service led by midwives may be one effective strategy to meet women's informational needs and address decisional conflict in relation to options for birth after a caesarean section.


Asunto(s)
Toma de Decisiones , Líneas Directas , Conducta en la Búsqueda de Información , Servicios de Salud Materna/organización & administración , Cesárea , Femenino , Humanos , Partería , Embarazo , Investigación Cualitativa , Teléfono , Parto Vaginal Después de Cesárea , Australia Occidental
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