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Background Approximately 15% of couples worldwide are affected with infertility, attributed to a male co‐factor in about half of the cases. Y chromosome microdeletions are the second most common genetic cause for male infertility, with a global prevalence of 2–10% in infertile men. Recently, CNV67, localized in X chromosome, has emerged as potential contributor to male infertility, with a described frequency of 1.1% in the oligo/azoospermic men. Objectives To investigate the prevalence of Y‐linked CNVs in a cohort of Portuguese infertile men and correlate the patients’ phenotypes with a genetic alteration; to investigate the CNV67 deletion in a subset of patients and corroborate the role of this CNV in male infertility. Materials and methods We retrospectively analysed a database of 4000 Portuguese infertile men for karyotype anomalies and Y microdeletions and selected a cohort of 400 for CNV67 screening analysis by quantitative PCR or single PCR plus/minus. Results Karyotype anomalies were present in 263 patients (6.6%), with Klinefelter syndrome representing the most frequent karyotype anomaly (2.8%). Among the 4000 patients, the prevalence of Yq microdeletions was 4.6%. Ninety microdeletions (10.0%) were found in the azoospermic group, 44 deletions (4.5%) in the severe oligozoospermic group, 1 AZFc partial deletion (0.3%) in the mild–moderate oligozoospermic group and 2 partial AZFc deletions (0.4%) in the normozoospermic group. Complete AZFc deletions represented 56.8% of the Yq microdeletions. The CNV67 deletion frequency was 1.2% in the studied sample. Conclusions This study presents one of the largest samples of infertile men worldwide with the main purpose of correlating the Yq microdeletions with sperm count. Our findings are supported by previous reviews with large data and provide a reliable estimation of the prevalence of these anomalies in a Portuguese population. CNV67 was exclusively deleted in patients with spermatogenic impairment, showing a consistent genotype–phenotype correlation and a significant prevalence.
Background Percutaneous valve commissurotomy (PMC) is an established treatment in patients with significative mitral stenosis (MS). Although rheumatic MS incidence has decreased in the last century, it remains a prevalent pathology worldwide. The Wilkins score (WS) is a reference in echocardiographic assessment of MS; a score ≤8 is considered a predictor of treatment success and score between 9 and 11 is a “grey zone” (WGZ) in which doubts persists regarding PMC success. Purpose To evaluate the early and long-term results of PMC in patients with rheumatic MS and to compare long-term events between patients with WS ≤8 and patients in WGZ. Methods We retrospectively analysed all patients between 1991 and 2008 with significative rheumatic MS undergoing PMC. Data were collected at baseline and during long-term follow-up. M ACE was defined as a composite of all-cause mortality, mitral valve re-intervention or cardiovascular hospitalization. Results In our cohort, 124 patients were included. Most were female (87%), mean age at the time of repair was 46±11 year-old and mean follow-up was 20±6 years. Before the procedure, 81% had WS ≤8 and 19% were in WGZ. Both groups had similar baseline characteristics, namely age at first intervention, NYHA class and follow-up time. All patients had preserved biventricular systolic function, 83% presented PH, mean transvalvular gradient (TVG) and mitral valve area (MVA) were 12.8 mmHg and 1.0 cm2, respectively. Most of the procedures were successful (91%) and without complications (94%). Mean MVA improvement was similar in both groups [0.9 cm2 in WS ≤8 and 0.8 cm2 in WGZ, t(102)=0.173, p=0.863]; there was also no significative difference in TVG and PASP reduction after PMC. During long-term follow-up, re-intervention and mortality occurred in 40% and 23% in WS ≤8 and in 50% and 29% in WGZ, respectively, and none of these differences was statistically significant (p=0.389 and p=0.544, respectively). Concerning time-to-event analysis, approximately 80% of patients kept uneventful and >90% alive after 10 years in both groups and no significant difference in M ACE events and all-cause mortality between WS ≤8 and WGZ was observed (Log Rank, p=0,419 and p=0.950, respectively). Conclusion PMC was safe and effective in clinically significant rheumatic MS in both WS ≤8 and WS 9–11, with similar MVA improvement. After 10 years, approximately 80% of patients were MACE-free and >90% alive in both groups. There was no difference in all-cause mortality and in a composite of all-cause death, mitral valve re-intervention or cardiovascular hospitalization concerning WS groups. Funding Acknowledgement Type of funding sources: None.
A 69-year-old male presented with typical angina while showering. He had history of CABG in 2008 (left internal mammary arterial [LIMA] to the first marginal and intermediate arteries and RIMA to the LAD artery), with preserved biventricular systolic function. On physical examination, an upper-arm systolic blood pressure differential >20mmHg and a decreased pulse amplitude on the left side was found. ECG revealed sinus tachycardia with RBBB, ST-segment depression and inverted T-waves in the lateral and inferior leads. Troponin and BNP levels were elevated. Echocardiogram showed reduced left ventricular ejection fraction (22%) and de novo akinesia of the inferior and posterior walls. The diagnosis of non-ST-segment elevation myocardial infarction was assumed. Coronary angiography revealed patent bypass grafts without disease and a 90% stenosis of the left subclavian artery (LSA) proximal to the ostia of the LIMA, with retrograde flow ‘stealing’ the myocardial blood supply. Ultrasound scan detected systolic reversal of flow in the left vertebral artery, suggesting subclavian-vertebral steal phenomenon. CT-angiography revealed a 14-mm stenosis with a useful lumen of 2 mm in the LSA. A percutaneous balloon angioplasty with stenting of the LSA was performed by the Vascular team, restoring the normal blood supply. Coronary subclavian steal syndrome can manifest as myocardial infarction or heart failure, due to functional LIMA graft failure by inadequate blood supply to the myocardium. Anamnesis and physical examination are fundamental in order not to miss the diagnosis. Subclavian angiography is the gold standard to confirm the diagnosis and can be performed during coronary angiography. Revascularization of the LSA is the definitive treatment. Figure 1Coronary angiography revealed chronic occluded native coronary vessels with patency and no significant disease of the bypass grafts, and high grade (90%) left subclavian artery (LSA) stenosis proximal to the ostia of the LIMA, conditioning the blood flow to the left upper limb and ‘stealing’ the myocardial blood supply because of retrograde flow in the LIMA graft.
Background Percutaneous valve commissurotomy (PMC) is a viable alternative to mitral valve surgery in the treatment of patients with clinically significant mitral stenosis (MS). Although rheumatic MS incidence has decreased in developed countries, it remains a prevalent healthcare problem in Cardiology clinics Purpose To evaluate the early and long-term results of PMC in patients with rheumatic MS and to compare long-term events between patients with and without pulmonary hypertension (PH). Methods We retrospectively analysed all consecutive patients between 1991 and 2008 with clinically significant rheumatic MS undergoing PMC. Clinical and echocardiographic data were collected at baseline and during long-term follow-up. MACE was a composite of adverse events defined as all-cause mortality, mitral valve re-intervention or hospitalization for a cardiovascular cause. Results A total of 124 patients were enrolled: 87% were female, with a mean age at the time of repair of 46±11 year-old and a mean follow-up of 20±6 years. Before the procedure, 34% were in NYHA class ≥ III and 81% had a Wilkins score ≤8; all patients had preserved biventricular systolic function, 83% presented PH, mean transvalvular gradient (TVG) and mitral valve area (MVA) were 12.8 mmHg and 1.0 cm2, respectively. Most of the procedures were successful (91%) and without complications (94%), with a mean MVA improvement of 0.9 cm2 and reduction of 8.5 mmHg in TVG and 9.7 mmHg in pulmonary artery systolic pressure (PASP) after PMC. During long-term follow-up, 42% of patients were submitted to re-intervention (most of them surgically) and 24% died. In patients non-submitted to re-intervention, TVG and PASP remained similar with early post-procedure evaluation (p=0.109 and p=0.777, respectively), while MVA reduced over time, yet still statistically superior to baseline MVA (1.6 cm2 vs 1.0 cm2, p<0.001). Concerning time-to-event analysis, approximately 80% of patients kept uneventful after 10 years; after 30 years, more than 20% continued MACE-free and approximately 50% were alive. Regarding PH presence at time of PMC, there was no significant difference in MACE events and all-cause mortality between the two groups (Log Rank, p=0,846 and p=0.661, respectively). Conclusion PMC was safe and effective in clinically significant rheumatic MS. After a long-term follow-up patients maintained the reduction in TVG and PASP and a smaller but significative improvement in MVA. Most of the patients were free from adverse events after 10 years and half were alive after 30 years. There was no difference in all-cause mortality and in a composite of all-cause death, mitral valve re-intervention or cardiovascular hospitalization concerning PH presence. Funding Acknowledgement Type of funding sources: None.
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