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1.
Diagnostics (Basel) ; 14(11)2024 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-38893620

RESUMO

BACKGROUND AND OBJECTIVES: Transesophageal echocardiography (TEE) is considered an indispensable tool for perioperative evaluation in mitral valve (MV) surgery. TEE is routinely performed by anesthesiologists competent in TEE; however, in certain situations, the expertise of a senior cardiologist specializing in TEE is required, which incurs additional costs. The purpose of this study is to determine the indications for specialized perioperative TEE based on its utility and the correlation between intraoperative TEE diagnoses and surgical findings, compared with routine TEE performed by an anesthesiologist. MATERIALS AND METHODS: We conducted a three-year prospective study involving 499 patients with MV disease undergoing cardiac surgery. Patients underwent intraoperative and early postoperative TEE and at least one other perioperative echocardiographic evaluation. A computer application was dedicated to calculating the utility of each type of specialized TEE indication depending on the type of MV disease and surgical intervention. RESULTS: The indications for performing specialized perioperative TEE identified in our study can be categorized into three groups: standard, relative, and uncertain. Standard indications for specialized intraoperative TEE included establishing the mechanism and severity of MR (mitral regurgitation), guiding MV valvuloplasty, diagnosing associated valvular lesions post MVR (mitral valve replacement), routine evaluations in triple-valve replacements, and identifying the causes of acute, intraoperative, life-threatening hemodynamic dysfunction. Early postoperative specialized TEE in the intensive care unit (ICU) is indicated for the suspicion of pericardial or pleural effusions, establishing the etiology of acute hemodynamic dysfunction, and assessing the severity of residual MR post valvuloplasty. CONCLUSIONS: Perioperative TEE in MV surgery can generally be performed by a trained anesthesiologist for standard measurements and evaluations. In certain cases, however, a specialized TEE examination by a trained senior cardiologist is necessary, as it is indirectly associated with a decrease in postoperative complications and early postoperative mortality rates, as well as an improvement in immediate and long-term prognoses. Also, for standard indications, the correlation between surgical and TEE diagnoses was superior when specialized TEE was used.

2.
Genes (Basel) ; 15(5)2024 05 07.
Artigo em Inglês | MEDLINE | ID: mdl-38790222

RESUMO

BACKGROUND: Alport syndrome (AS) is a common and heterogeneous genetic kidney disease, that often leads to end-stage kidney disease (ESKD). METHODS: This is a single-center, retrospective study that included 36 adults with type IV collagen (COL4) mutations. Our main scope was to describe how genetic features influence renal survival. RESULTS: A total of 24 different mutations were identified, of which eight had not been previously described. Mutations affecting each of the type IV collagen α chains were equally prevalent (33.3%). Most of the patients had pathogenic variants (61.1%). Most patients had a family history of kidney disease (71%). The most prevalent clinical picture was nephritic syndrome (64%). One-third of the subjects had extrarenal manifestations, 41.6% of patients had ESKD at referral, and another 8.3% developed ESKD during follow-up. The median renal survival was 42 years (95% CI, 29.98-54.01). The COL4A4 group displayed better renal survival than the COL4A3 group (p = 0.027). Patients with missense variants had higher renal survival (p = 0.023). Hearing loss was associated with lower renal survival (p < 0.001). CONCLUSIONS: Patients with COL4A4 variants and those with missense mutations had significantly better renal survival, whereas those with COL4A3 variants and those with hearing loss had worse prognoses.


Assuntos
Colágeno Tipo IV , Estudos de Associação Genética , Falência Renal Crônica , Nefrite Hereditária , Humanos , Nefrite Hereditária/genética , Nefrite Hereditária/patologia , Feminino , Masculino , Colágeno Tipo IV/genética , Adulto , Pessoa de Meia-Idade , Falência Renal Crônica/genética , Falência Renal Crônica/patologia , Mutação , Estudos Retrospectivos , Autoantígenos
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