RESUMO
Septal myectomy is indicated in patients with obstructive hypertrophic cardiomyopathy (HCM) and intractable symptoms. Concomitant mitral valve (MV) surgery is performed for abnormalities contributing to systolic anterior motion (SAM), or for SAM-mediated mitral regurgitation (MR) with or without left ventricular outflow tract (LVOT) obstruction. One MV repair technique is anterior mitral leaflet extension (AMLE) utilizing bovine pericardium, stiffening the leaflet and enhancing coaptation posteriorly. Fifteen HCM patients who underwent combined myectomy-AMLE for LVOT obstruction or moderate-to-severe MR between 2009 and 2020 were analyzed using detailed echocardiography. The mean age was 56.6 years and 67% were female. The average peak systolic LVOT gradient and MR grade measured 73.4 mmHg and 2.3, respectively. Indications for myectomy-AMLE were LVOT obstruction and moderate-to-severe MR in 67%, MR only in 20%, and LVOT obstruction only in 13%. There was no mortality observed, and median follow-up was 1.2 years. Two patients had follow-up grade 1 mitral SAM, one of whom also had mild LVOT obstruction. No recurrent MR was observed in 93%, and mild MR in 7%. Compared with preoperative measures, there was a decrease in follow-up LV ejection fraction (68.2 vs 56.3%, p = 0.02) and maximal septal wall thickness (25.5 vs 21.3 mm, p < 0.001), and an increase in the end-diastolic diameter (21.9 vs 24.8 mm/m2, p = 0.04). There was no change in global longitudinal strain (-12.1 vs -11.6%, p = 0.73) and peak LV twist (7.4 vs 7.3°, p = 0.97). In conclusion, myectomy-AMLE is a viable treatment option for carefully selected symptomatic HCM patients with LVOT obstruction or moderate-to-severe MR.
Assuntos
Cardiomiopatia Hipertrófica , Insuficiência da Valva Mitral , Animais , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Cardiomiopatia Hipertrófica/cirurgia , Bovinos , Ecocardiografia , Feminino , Septos Cardíacos/diagnóstico por imagem , Septos Cardíacos/cirurgia , Humanos , Pessoa de Meia-Idade , Valva Mitral/diagnóstico por imagem , Valva Mitral/cirurgia , Insuficiência da Valva Mitral/diagnóstico por imagem , Insuficiência da Valva Mitral/etiologia , Insuficiência da Valva Mitral/cirurgia , Resultado do TratamentoRESUMO
BACKGROUND: Pulmonary arterial compliance (PAC) was previously shown to be an important prognostic factor in pulmonary arterial hypertension (PAH), in addition to the conventional pulmonary vascular resistance (PVR). The product of PAC and PVR, the arterial time (RC) constant, expresses the logarithmic relationship between the hemodynamic parameters. The objective of the study was to test RC constant stability in PAH patients followed beyond 12 months after diagnosis, and to report possible RC variations in different etiologies. METHODS: Fourteen PAH patients followed between 2008 and 2019 were included. Type 1 PAH was defined as a mean pulmonary artery pressure (PAP) ≥25 mmHg at rest and PVR ≥3 Wood units (WU). All patients who fulfilled WHO group I PAH criteria and had undergone two right heart catheterizations at least 1 year apart were included. The recorded hemodynamic data for each patient were used to compute PVR and PAC. RESULTS: PAH etiologies included scleroderma (n=2), liver cirrhosis (n=1), hereditary hemorrhagic telangiectasia (HHT) (n=1), mixed connective tissue disease (MCTD) (n=3), and idiopathic (n=7). The RC constant remained stable for all 14 patients over a follow-up period of 3.9±2 years. Patients with MCTD displayed more favorable hemodynamics, evidenced by higher RC (12.54 vs. 10.01, P<0.01) and PAC values (2.59 vs. 1.62, P=0.02), when compared with non-MCTD PAH patients. For the entire cohort the mean PAP measured 51±14 mmHg at baseline, and 46±13 mmHg at follow-up, respectively. CONCLUSIONS: The relationship between PAC and PVR remains stable in follow-up periods averaging 4 years, making compliance an important disease marker past the early stages. Patients with MCTD displayed more advantageous hemodynamic profiles when compared with patients with other PAH etiologies.
RESUMO
BACKGROUND: Leber congenital amaurosis (LCA) is a severe retinal degenerative disease that manifests as blindness or poor vision in infancy. The purpose of this study was to clinically characterize and identify the cause of disease in a large inbred Bedouin Israeli tribe with LCA. METHODS: Thirty individuals of a single kindred, including eight affected with LCA, were recruited for this study. Patients' clinical data and electroretinography (ERG) findings were collected. Molecular analysis included homozygosity mapping with polymorphic markers and Sanger sequencing of candidate genes. RESULTS: Of the eight affected individuals of the kindred, nystagmus was documented in five subjects and keratoconus in three. Cataract was found in 5 of 16 eyes. Photopic and scotopic ERG performed in 5 patients were extinguished. All affected subjects were nearly blind, their visual acuity ranged between finger counting and uncertain light perception. Assuming autosomal recessive heredity of a founder mutation, studies using polymorphic markers excluded homozygosity of affected individuals at the genomic loci of all previously known genes associated with LCA, except GUCY2D. Sequencing of GUCY2D identified a novel missense mutation (c.2129C>T; p.Ala710Val) resulting in substitution of alanine by valine at position 710 within the protein kinase domain of the retina-specific enzyme guanylate cyclase 1 (GC1) encoded by GUCY2D. Molecular modeling implied that the mutation changes the conformation of the regulatory segment within the kinase styk-domain of GC1 and causes loss of its helical structure, likely inhibiting phosphorylation of threonine residue within this segment, which is needed to activate the catalytic domain of the protein. CONCLUSIONS: This is the first documentation of the p.Ala710Val mutation in GC1 and the second ever described mutation in its protein kinase domain. Our findings enlarge the scope of genetic variability of LCA, highlight the phenotypic heterogeneity found amongst individuals harboring an identical LCA mutation, and possibly provide hope for gene therapy in patients with this congenital blinding disease. As the Bedouin kindred studied originates from Saudi Arabia, the mutation found might be an ancient founder mutation in that large community.
Assuntos
Guanilato Ciclase/genética , Amaurose Congênita de Leber/genética , Receptores de Superfície Celular/genética , Adulto , Sequência de Aminoácidos , Animais , Domínio Catalítico , Criança , Pré-Escolar , DNA/química , DNA/isolamento & purificação , DNA/metabolismo , Análise Mutacional de DNA , Eletrorretinografia , Olho/diagnóstico por imagem , Feminino , Genótipo , Guanilato Ciclase/química , Guanilato Ciclase/metabolismo , Homozigoto , Humanos , Amaurose Congênita de Leber/patologia , Masculino , Simulação de Dinâmica Molecular , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Linhagem , Fenótipo , Polimorfismo de Nucleotídeo Único , Receptores de Superfície Celular/química , Receptores de Superfície Celular/metabolismo , Alinhamento de Sequência , Acuidade VisualRESUMO
OBJECTIVE: To review the current screening methods for diabetic retinopathy, with a focus on nonmydriatic digital fundus photography. METHODS: Articles from Medline were reviewed from 1976 to November 2011 for different combinations of the words "diabetic retinopathy," "screening," "fundus photography," and "nonmydriasis." RESULTS: Because of its ease of use and cost-effectiveness, digital fundus photography is becoming the preferred method for diagnosing diabetic retinopathy. Current research has proven that pupillary dilation is not a necessary step in the fundus examination, although it reduces the number of unnecessary referrals to ophthalmologists. Automated grading systems, while saving time and reducing human error, still need refinement before they can replace manual grading by trained ophthalmologists. CONCLUSION: Nonmydriatic digital fundus photography with manual grading by a trained technician is an acceptable method of screening for diabetic retinopathy.
Assuntos
Retinopatia Diabética/diagnóstico , Humanos , Programas de Rastreamento/métodos , Fotografação/economia , Fotografação/métodos , Telemedicina/economia , Telemedicina/métodosRESUMO
OBJECTIVE: To review the epidemiology of diabetic retinopathy (DR) in Africa and discuss the various methods of screening for the disease. METHODS: Review of the peer-reviewed articles in PubMed, Google, and Scirus about DR published from 1985 to 2010. Articles in all languages were considered, provided that the non-English articles included English abstracts. RESULTS: Screening for DR can significantly prevent the loss of vision resulting from long-standing diabetes mellitus. Screening is also financially advantageous for both patients and health care systems. Several screening methods can be employed by primary care providers, who over the past 20 years have become responsible for the treatment and follow-up of patients with diabetes rather than hospitals. An additional concern for screening in African countries is the inefficient referral to ophthalmologists, given their scarce distribution in the African population. Finally, education of both the patient population and caregivers should be included as an essential component of screening programs. CONCLUSION: As of now, African health care systems are not prepared to deal with the increasing burden of diabetes and its complications. With inappropriate glycemic or blood pressure control, most patients will only seek care once micro- or macrovascular complications have already developed. Given the current difficulty in providing costly therapeutic interventions, a well-planned, cost-effective prevention strategy is required.