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1.
J Cardiovasc Dev Dis ; 10(10)2023 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-37887858

RESUMO

Hypertrophic cardiomyopathy (HCM) is a congenital heart disease characterized by thickening of the heart's left ventricle (LV) wall that can lead to cardiac dysfunction and heart failure. Ventricular wall thickening affects the motion of cardiac walls and blood flow within the heart. Because abnormal cardiac blood flow in turn could lead to detrimental remodeling of heart walls, aberrant ventricular flow patterns could exacerbate HCM progression. How blood flow patterns are affected by hypertrophy and inter-patient variability is not known. To address this gap in knowledge, we present here strategies to generate personalized computational fluid dynamics (CFD) models of the heart LV from patient cardiac magnetic resonance (cMR) images. We performed simulations of CFD LV models from three cases (one normal, two HCM). CFD computations solved for blood flow velocities, from which flow patterns and the energetics of flow within the LV were quantified. We found that, compared to a normal heart, HCM hearts exhibit anomalous flow patterns and a mismatch in the timing of energy transfer from the LV wall to blood flow, as well as changes in kinetic energy flow patterns. While our results are preliminary, our presented methodology holds promise for in-depth analysis of HCM patient hemodynamics in clinical practice.

2.
Urol Int ; 106(5): 533-536, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34929697

RESUMO

Mixed gonadal dysgenesis is the most common chromosomal abnormality with ambiguous genitalia, defined as a 45,X/46,XY mosaicism. It can present with a normal male phenotype, ambiguous genitalia, or features of Turner syndrome. A 14-year-old patient was referred to the genetics clinic due to hypospadia, cryptorchidism, and aortic coarctation. During the physical examination, short stature, webbed neck, and Blashko lines on his back were noted. He had a previous karyotype reported as normal. However, due to an inadequate evolution and a low resolution on the previous test, a higher resolution karyotype was performed, identifying a mosaicism 45,X/46,XY. A multidisciplinary board examined the case, and follow-up with tumor markers was carried out to evaluate the presence of gonadoblastoma, one of the main complications in these patients. Treatment should be transdisciplinary and focused on the particular characteristics of each case. Other treatment alternatives include corrective surgery and hormonal therapy.


Assuntos
Transtornos do Desenvolvimento Sexual , Disgenesia Gonadal Mista , Síndrome de Turner , Feminino , Disgenesia Gonadal Mista/diagnóstico , Disgenesia Gonadal Mista/genética , Disgenesia Gonadal Mista/patologia , Humanos , Masculino , Mosaicismo , Fenótipo , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética
3.
Am J Med Genet C Semin Med Genet ; 187(3): 312-321, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-33403803

RESUMO

Birth defects are structural or functional defects present at birth and are caused by different factors that affect intrauterine development. They are the second most common cause of death under five years of age in Latin America and the Caribbean. In Bogotá and Cali, Colombia, there are two surveillance programs established to evaluate the prevalence of them. The purpose of the following article is to describe the experience and results of the surveillance of the Birth Defects Surveillance Programs in Bogotá and Cali, Colombia, 2002-2019. The information was taken from the surveillance programs that have an active hospital system in some institutions of the city (ECLAMC modality), and use data from the passive national system (Sistema Nacional de Vigilancia en Salud Pública - SIVIGILA) to expand their coverage. From 2002 until 2019, 1,289.650 births have been monitored through one of the surveillance programs, including both methodologies. The importance of surveillance programs relies on the amount of data obtained that allows the development of research, the detection of potential changes throughout time, and the guidance of public policies to improve promotion and prevention strategies.


Assuntos
Seguimentos , Colômbia/epidemiologia , Humanos , Recém-Nascido , Prevalência
4.
Med. UIS ; 32(3): 11-17, Sep.-Dec. 2019. tab
Artigo em Espanhol | LILACS | ID: biblio-1114972

RESUMO

Resumen La cicatriz uterina es un defecto en la pared anterior del miometrio secundario a la cesárea. Su prevalencia es muy variable, llegando hasta el 84% en algunos estudios, y aumenta según el número de cesáreas previas. La mayoría de las pacientes pueden ser asintomáticas, pero cuando se manifiesta es principalmente con hemorragia uterina anormal. El manejo de esta patología se ha descrito mediante técnicas farmacológicas y quirúrgicas, siendo más estudiadas las técnicas quirúrgicas, dentro de las que se encuentran la histeroscopía, laparoscopia, laparoscopia asistida con histeroscopía, laparotomía y el abordaje vaginal. Se realizó una revisión en PubMed-MEDLINE y LILACS respecto al manejo de este defecto, tomándose artículos publicados en los últimos cinco años, en la cual se encontraron 37 artículos. El manejo depende principalmente de factores como la sintomatología de la paciente, si tiene paridad satisfecha o no, la profundidad del defecto y las preferencias de la paciente. MÉD.UIS.2019;32(3):11-7


Abstract The postcesarean scar defect is a defect in the anterior wall of the myometrium secondary to the cesarean section. Its prevalence is variable, reaching up to 84% in some studies, increasing with the number of previous cesarean sections. Most of the patients can be asymptomatic, but when it manifests, is mostly with abnormal uterine bleeding. Its management has been described with pharmacological and surgical techniques, the latter being the most researched. They include the hysteroscopy, laparoscopy, laparotomy, and the vaginal approach. A revision in PubMed-MEDLINE and LILACS about the management of this defect was done, including articles published in the last five years, resulting in 37 articles. The selection of the treatment depends on different factors such as the patient's symptoms, if she has satisfied parity or not, the depth of the defect and the patient's preferences. MÉD.UIS.2019;32(3):11-7


Assuntos
Humanos , Feminino , Cesárea , Cicatriz , Paridade , Patologia , Pacientes , Terapêutica , Hemorragia Uterina , Histeroscopia , Laparoscopia , Ginecologia , Laparotomia , Miométrio
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