The H Syndrome: A Genodermatosis

H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures. Exophthalmos, malabsorption, renal anomalies, flexion contractions of interphalangeal joints and hallux valgus, and lytic bone lesions, as well as osteosclerosis, are also seen. If these are lacking, the constellation of additional findings should raise suspicion for H syndrome. As most of the patients reported to date with H syndrome are from traditional, low-income populations, where consanguinity is common, it is highly important to develop a cheap and affordable technique for a mutation analysis. Two siblings presented to us, diagnosed as having insulin-dependent diabetes mellitus (IDDM) since the age of eight years and progressive flexion contracture of the small joints for seven-eight years. On examination, both had short stature. One also had bilateral cervical lymphadenopathy. The female had the Tanner stage of B3P3A2 M0 and the male had the Tanner stage of prepuberty. Laboratory workup, including antinuclear antibodies, rheumatoid factor, erythrocyte sedimentation rate, thyroid profile, and Celiac serology were negative. Genetic studies confirmed the diagnosis of H syndrome

p16 expression in cutaneous squamous cell carcinoma of the head and neck is not associated with integration of high risk HPV DNA or prognosis

Head and neck cutaneous squamous cell carcinoma (HNcSCC) can present with cervical metastases without an obvious primary. Immunohistochemistry for p16 is established as a surrogate marker of human papillomavirus (HPV) in oropharyngeal cancer. p16 expression in HNcSCC needs to be elucidated to determine its utility in predicting the primary site. The aim of this study was to evaluate the rate of p16 expression in HNcSCC and its association with prognostic factors and survival. p16 immunohistochemistry was performed on 166 patients with high risk HNcSCC (2000-2013) following histopathology review. Chromogenic in situ hybridisation (CISH) for HPV was performed. Fifty-three (31.9%) cases showed strong, diffuse nuclear and cytoplasmic p16 expression including 14 (41%) non-metastatic and 39 (29.5%) metastatic tumours (p = 0.21). HPV CISH was negative in all cases. p16 expression significantly increased with poorer differentiation (p = 0.033), but was not associated with size (p = 0.30), depth of invasion (p = 0.94), lymphovascular invasion (p = 0.31), perineural invasion (p = 0.69), keratinisation (p = 0.99), number of involved nodes (p = 0.64), extranodal extension (p = 0.59) or survival. Nearly 32% of HNcSCCs, particularly poorly differentiated HNcSCCs, show p16 expression. A primary HNcSCC should be considered in p16 positive neck node metastases in regions with high prevalence of HNcSCC. p16 expression is not associated with improved survival in HNcSCC

Is a robotic operation safe for mitral valve repair? [letter to the editor]

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Asymptomatic mitral regurgitation-wait or operate? [letter to the editor]

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Prognostic benefit of catheter ablation of atrial fibrillation in heart failure: An updated meta‐analysis of randomized controlled trials

Abstract Background The prognostic role of catheter ablation of atrial fibrillation (AF) in patients with heart failure (HF) remains uncertain, with guideline recommendations largely based on a single trial. We conducted a meta‐analysis of randomized controlled trials (RCTs) assessing the prognostic impact of AF ablation in patients with HF. Methods Electronic databases were searched for RCTs comparing ‘AF ablation’ versus ‘other care’ (medical therapy and/or atrioventricular node ablation with pacing) in patients with HF. Primary endpoints were ≥1‐year mortality, HF hospitalization and change in left ventricular ejection fraction (LVEF). Meta‐analyses were performed using random‐effects modelling. Results Nine RCTs (n = 1462) met inclusion criteria. Compared to ‘other care’, AF ablation significantly reduced ≥1‐year mortality (relative risk [RR] 0.65; 95% confidence intervals [CI], 0.49–0.87) and HF hospitalization (RR 0.64; 95% CI, 0.51–0.81). AF ablation demonstrated significantly greater improvement in LVEF (mean difference [MD] 5.4; 95% CI, 4.4–6.4), 6‐min walk test distance (MD 21.5 meters; 95% CI, 4.6–38.4) and quality of life as measured by Minnesota Living with Heart Failure Questionnaire score (MD 7.2; 95% CI, 2.8–11.7). Meta‐regression analyses showed the beneficial impact of AF ablation on LVEF was significantly blunted by higher prevalence of ischaemic cardiomyopathy. Conclusions Our meta‐analysis demonstrates AF ablation is superior to ‘other care’ in improving mortality, HF hospitalization, LVEF and quality of life in patients with HF. However, the highly selected study populations in included RCTs and effect modification mediated by etiology of HF suggests these benefits do not uniformly apply across the HF population

Percutaneous pulmonary valve implantation : a systematic review of clinical outcomes [letter to the editor]

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A Meta-analysis of mitral valve repair versus replacement for ischemic mitral regurgitation

Background: The development of ischemic mitral regurgitation (IMR) portends a poor prognosis and is associated with adverse long-term outcomes. Although both mitral valve repair (MVr) and mitral valve replacement (MVR) have been performed in the surgical management of IMR, there remains uncertainty regarding the optimal approach. The aim of the present study was to meta-analyze these two procedures, with mortality as the primary endpoint. Methods: Seven databases were systematically searched for studies reporting peri-operative or late mortality following MVr and MVR for IMR. Data were independently extracted by two reviewers and meta-analyzed according to pre-defined study selection criteria and clinical endpoints. Results: Overall, 22 observational studies (n=3,815 patients) and one randomized controlled trial (n=251) were included. Meta-analysis demonstrated significantly reduced peri-operative mortality [relative risk (RR) 0.61; 95% confidence intervals (CI), 0.47-0.77; I²=0%; P<0.001] and late mortality (RR, 0.78; 95% CI, 0.67-0.92; I²=0%; P=0.002) following MVr. This finding was more pronounced in studies with longer follow-up beyond 3 years. At latest follow-up, recurrence of at least moderate mitral regurgitation (MR) was higher following MVr (RR, 5.21; 95% CI, 2.66-10.22; I²=46%; P<0.001) but the incidence of mitral valve re-operations were similar. Conclusions: In the present meta-analysis, MVr was associated with reduced peri-operative and late mortality compared to MVR, despite an increased recurrence of at least moderate MR at follow-up. However, these findings must be considered within the context of the differing patient characteristics that may affect allocation to MVr or MVR. Larger prospective studies are warranted to further compare long-term survival and freedom from re-intervention.11 page(s

Transcatheter aortic valve implantation versus surgical aortic valve replacement : meta-analysis of clinical outcomes and cost-effectiveness

Objective: Transcatheter aortic valve implantation (TAVI) has emerged as a feasible alternative treatment to conventional surgical aortic valve replacement (AVR) for high-risk patients with aortic stenosis. The present systematic review aimed to assess the comparative clinical and cost-effectiveness outcomes of TAVI versus AVR, and meta-analyse standardized clinical endpoints. Methods: An electronic search was conducted on 9 online databases to identify all relevant studies. Eligible studies had to report on either periprocedural mortality or incremental cost-effectiveness ratio (ICER) to be included for analysis. Results: The systematic review identified 24 studies that reported on comparative clinical outcomes, including three randomized controlled trials and ten matched observational studies involving 7906 patients. Meta-analysis demonstrated no significant differences in regards to mortality, stroke, myocardial infarction or acute renal failure. Patients who underwent TAVI were more likely to experience major vascular complications or arrhythmias requiring permanent pacemaker insertion. Patients who underwent AVR were more likely to experience major bleeding. Eleven analyses from 7 economic studies reported on ICER. Six analyses defined TAVI to be low value, 2 analyses defined TAVI to be intermediate value, and three analyses defined TAVI to be high value. Conclusion: The present study demonstrated no significant differences in regards to mortality or stroke between the two therapeutic procedures. However, the cost-effectiveness and long-term efficacy of TAVI may require further investigation. Technological improvement and increased experience may broaden the clinical indication for TAVI for low-intermediate risk patients in the future.13 page(s

Letter to the editor : Systematic review of percutaneous coronary intervention and transcatheter aortic valve implantation for concomitant aortic stenosis and coronary artery disease

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