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Background: Mechanical heart valve replacement is a standard treatment for severe valvular disorders. The use of mono-leaflet valves has decreased recently. Recognizing the echocardiographic features of mono-leaflet and bileaflet valves is crucial for accurate complication diagnosis and proper management. Case Presentation: A 65-year-old female with mono-leaflet mitral and bileaflet tricuspid valves underwent an echocardiographic assessment. This simple educational case provides a unique opportunity to compare the echocardiographic features of these valves within a single patient. Conclusion: There is a crucial need for clinicians, particularly those in training, to differentiate between mono-leaflet and bileaflet mechanical heart valves adeptly. With mono-leaflet valves decreasing in prevalence, proficiency in recognizing the echocardiographic nuances of each type is imperative. Failure to do so may result in misdiagnoses and inappropriate management. This underscores the significance of continuous education and vigilance in echocardiographic assessments to ensure optimal patient care. [ABSTRACT FROM AUTHOR]

Solid-organ transplantation recipients were assumed highly vulnerable to coronavirus disease 2019 (COVID-19). However, the results of previous studies in patients with orthotopic heart transplantation (OHT) under immunosuppressive therapy are contradictory. Therefore, we aimed to assess the prevalence of COVID-19 infection and associated risk factors, along with the six-month outcomes in COVID-19 positive OHT patients. This single-center telephone-based survey was conducted on OHT patients. Using a detailed questionnaire, exposure to COVID-19, related symptoms, and preventive self-care measures were collected. Outcomes of COVID-19-positive patients were reassessed using another survey six months later. 118 OHT patients (male: n=87, 73.7%) were included with a mean age of 45.3±13.1 years. Sixteen patients (13.5%) reported one or more symptoms compatible with COVID-19, of whom 12 (10.2%) tested positive. Our results indicated no statistically significant association between COVID-19 and comorbidities. Poor adherence to selfcare measures and contact with positive index cases were both significantly associated with COVID-19 infection (P<0.001). A later six months follow-up showed that two out of 12 (16.6%) COVID-19 positive OHT patients died. There was no statistically significant difference between the prevalence of COVID-19 in our patients compared to Iran's general population (P=251.0). Non-compliance with personal protective protocols and a history of contact with COVID-19 cases were the most risk factors for COVID-19 infection in OHT patients. [ABSTRACT FROM AUTHOR]

Background: The X chromosome has historically been one of the most thoroughly investigated chromosomes regarding intellectual disability (ID), whose etiology is attributed to many factors including copy number variations (CNVs). Duplications of the long arm of the X chromosome have been reported in patients with ID, short stature, facial anomalies, and in many cases hypoplastic genitalia and/or behavioral abnormalities. Methods: Here, we report on a large Iranian family with X‐linked ID caused by a duplication on the X chromosome identified by whole genome sequencing in combination with linkage analysis. Results: Seven affected males in different branches of the family presented with ID, short stature, seizures, facial anomalies, behavioral abnormalities (aggressiveness, self‐injury, anxiety, impaired social interactions, and shyness), speech impairment, and micropenis. The duplication of the region Xq13.2q13.3, which is ~1.8 Mb in size, includes seven protein‐coding OMIM genes. Three of these genes, namely SLC16A2, RLIM, and NEXMIF, if impaired, can lead to syndromes presenting with ID. Of note, this duplicated region was located within a linkage interval with a LOD score >3. Conclusion: Our report indicates that CNVs should be considered in multi‐affected families where no candidate gene defect has been identified in sequencing data analysis. [ABSTRACT FROM AUTHOR]

Background: The aim of this study was to compare the PID with bare skin (without PID) regarding bacterial recolonization and bacterial regrowth of the adjacent skin of surgical incision in lumbar spine surgery patients. Methods: This quasi-experimental study was conducted from February to May 2018 on 88 patients who were candidate for lumbar spine surgery. Patients were assigned to one of two groups, treatment (with PID) and control (without PID). Skin sampling (adjacent of surgical incision) for bacterial culture was done in two steps, immediately after surgical skin prep (IASSP) and immediately after surgical wound closure (IASWC) by researcher. Finally, samples were sent to the laboratory. Results: The mean total bacterial count of patient's skin in stage IASSP was not significantly different between treatment and control groups (0.34 vs 0.27, P = 0.68). However, mean total bacterial count in stage IASWC in treatment group was significantly higher than control group (2.2 vs 0.93, P = 0.03). The frequency distribution of S. aureus (P = 0.04) and S. epidermidis (P = 0.02) was significantly higher in treatment group compared with control group in stage IASWC. Conclusions: The results showed that using PID is unable to reduce recolonization and regrowth of bacteria on patients' skin adjacent to surgical wound in clean lumbar spine surgeries. However, making a definite decision about using or not using of PID requires further studies. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Rudimentary left atrial appendage (LAA) is an extremely rare condition with an unclear association with cerebrovascular events. This case report discusses a patient with an unexplained cerebrovascular accident (CVA), where the diagnosis of rudimentary LAA was made using transesophageal echocardiography (TEE) and subsequently confirmed by computed tomography angiography (CTA). Rudimentary left atrial appendage (LAA) is extremely rare. This report presents the case of a 50‐year‐old woman who experienced a cerebrovascular accident (CVA) and was found to have a rudimentary LAA. The patient had a history of diabetes mellitus (DM), hypertension, and dyslipidemia. An electrocardiogram (ECG) showed sinus rhythm, and Holter monitoring did not detect any atrial fibrillation (AF). Transesophageal echocardiography (TEE) and computed tomography angiography (CTA) were performed to identify the source of cardiac emboli, revealing a rudimentary LAA with no thrombus present. [ABSTRACT FROM AUTHOR]

The present study aimed to compare the serum level of uric acid in patients with and without heart failure and also to determine the association between uric acid level and clinical status by Killip class in patients with STEMI. This case-control study was conducted on 50 consecutives as control group and 50 patients with acute heart failure, (20 patients had acute STEMI), who documented by both clinical conditions and echocardiography assessment. The mean plasma level of uric acid in the case group was 7.6±1.6 milligrams/deciliter (mg/dL) and in the control group was 4.5±1.5 respectively (P<0.001). These values in patients with STEMI was about 9.2±0.86, but in patients with acute heart failure in absence of STEMI was 6.5±1.04 (P<0.001). Moreover, there was significant difference among the level of uric acid and Killip classes (P<0.001). Also there was significant difference for uric acid level between HFrEF (HF with reduced EF) and severe LV systolic dysfunction (0.049). In STEMI patients with culprit LAD, mean uric acid was significantly higher than cases with culprit LCX [(9.7±0.98 versus 8.6±0.52 respectively) P=0.012]. Regarding treatment plan in patients with STEMI, mean level of uric acid in those considered for CABG was significantly higher than who were considered for PCI, 9.9±0.82 versus 8.9±0.76 respectively, P=0.029. In STEMI patients with higher killip class, higher level of uric acid was seen. Also, the severity of LV systolic dysfunction was associated with higher level of uric acid. [ABSTRACT FROM AUTHOR]

In the context of a comprehensive research project, investigating novel autosomal recessive intellectual disability (ARID) genes, linkage analysis based on autozygosity mapping helped identify an intellectual disability locus on Chr.12q24, in an Iranian family (LOD score=3.7). Next-generation sequencing (NGS) following exon enrichment in this novel interval, detected a nonsense mutation (p.Q1010*) in the CLIP1 gene. CLIP1 encodes a member of microtubule (MT) plus-end tracking proteins, which specifically associates with the ends of growing MTs. These proteins regulate MT dynamic behavior and are important for MT-mediated transport over the length of axons and dendrites. As such, CLIP1 may have a role in neuronal development. We studied lymphoblastoid and skin fibroblast cell lines established from healthy and affected patients. RT-PCR and western blot analyses showed the absence of CLIP1 transcript and protein in lymphoblastoid cells derived from affected patients. Furthermore, immunofluorescence analyses showed MT plus-end staining only in fibroblasts containing the wild-type (and not the mutant) CLIP1 protein. Collectively, our data suggest that defects in CLIP1 may lead to ARID. [ABSTRACT FROM AUTHOR]

Purpose: Defining normative aortic echocardiographic values in each geographical district is crucial as aortic valve area (AVA) may vary across races, genders, and ages. Notably, variations in normal values can have implications for clinical decision‐making, and available data on the Middle East population is also scarce. We sought to establish normal ranges for aortic valve echocardiographic parameters in the Iranian population and assess the effect of age, gender, weight, height, BMI, BSA, and blood pressure on them. Methods: Our data were provided from the web‐based echocardiographic data registry of Imam Khomeini Hospital Complex (IKHC). A total of 3251 healthy subjects older than 18 years old without any valvular stenosis were included in our study. Results: AVA's normal range was estimated at 1.92–4.52 and 1.67–3.80 cm2 in men and women, respectively. The annulus, AVA, AV VTI, and LVOT VTI were significantly larger in males, and this association remained significant after indexing AVA for weight, height, BMI, and BSA. Also, smaller AVA was associated with lower height, weight, BMI, and BSA in both men and women. Obese and hypertensive subjects had significantly larger AVA and annulus diameters. Conclusion: Our study provided region‐specific normal reference values for AV echocardiographic parameters and compared them across genders, ages, BMI, and blood pressure groups in the Iranian population. [ABSTRACT FROM AUTHOR]

Background: Isolated pulmonary valve endocarditis (IPE) accounts for less than 2% of all infective endocarditis patients. It is commonly associated with several predisposing factors, including intravenous drug use (IVDU) and congenital heart disease. The most common causative pathogens of IPE are Staphylococcus aureus and Streptococcus viridans. We report a Down's syndrome patient with IPE and with no standard risk factors caused by the rare pathogen Acinetobacter spp. This led to respiratory failure and systemic infection due to septic pulmonary emboli. Early elective surgery was decided upon as the patient was no longer responding to medical therapy, and his clinical condition was worsening over time. Case presentation: A 15-year-old male with Down syndrome and no underlying heart defect presented with a 3-month history of episodic fever, nausea, vomiting, and diarrhea. Transthoracic echocardiography (TTE) revealed large vegetation on the pulmonary valve leaflet, another mobile mass at the pulmonary artery bifurcation, and severe pulmonary regurgitation. Serial blood cultures isolated Acinetobacter spp. Despite initial antibiotic therapy, the patient continued to have sepsis, unresolved vegetations, and developed life-threatening complications and respiratory distress, which convinced us to perform a pulmonary valve replacement surgery with a homograft. After surgery, the patient recovered and was discharged on the ninth postoperative day (POD). Conclusion: This report highlights IPE's diagnostic and therapeutic challenges, alongside the importance of a comprehensive cardiopulmonary workup in patients with unexplained fever, sepsis, and pulmonary symptoms, even without typical risk factors. Based on the patient's aggravating condition despite medical treatment, early surgical intervention and pulmonary valve replacement were deemed crucial. However, there still needs to be a definitive guideline on when and how surgery should be performed in patients with complicated IPE, especially in pediatric patients. [ABSTRACT FROM AUTHOR]

Pregnancy after a heart transplant is a concern for many female recipients, and it remains a medical challenge that raises many questions. A 24-year-old woman, gravida 3, para 0, contacted us for obstetric care in the first trimester of gestation, about 3 years after an orthotopic cardiac transplant. She was a known case of dextrocardia with congenitally corrected transposition of the great arteries. The transplant had been performed for severe retractable heart failure, manifesting during her previous lost pregnancy. The course of the current gestation was uneventful. The patient's cardiovascular function was good throughout the pregnancy. She was admitted to the hospital for dyspnea at 35 weeks and 4 days of gestational age. A cardiovascular consult and echocardiography were performed. The results were within the normal range, and labor pains explained the patient's dyspnea. Because of labor pain, a repeat Cesarean section was performed at 35 weeks and 4 days of gestational age. A male baby weighing 2700 g, with an Apgar score of 7/9, was delivered. The patient was discharged after delivery with enoxaparin (40 mg), prednisolone (5 mg), levothyroxine, and mycophenolate mofetil (500 mg) without any complications. Follow-up was carried out at 1 month, and no abnormality was found. Here, we report a case of a successful pregnancy in a young woman after a heart transplant. [ABSTRACT FROM AUTHOR]

A correction to the article "A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability" that was published in the previous issue is presented.

Background: Preoperative cardiovascular risk assessment is one of the main principles before noncardiac surgeries. Cardiac stress imaging, such as myocardial perfusion scan (MPS), is a proposed cardiovascular risk evaluation method according to the latest guidelines. Yet, its efficacy, along with the cost-effectiveness of the method, has been questioned in previous studies. Our study aims to evaluate the utility of N-terminal pro-b-type natriuretic peptide (NT-proBNP) level measurement in predicting postoperative cardiovascular complications in candidates who have undergone an MPS before surgery and compare the results. Methods: A cohort of 80 patients with a revised cardiac risk index score of one or more who were scheduled for moderate to high-risk noncardiac surgeries and met the criteria to undergo an MPS for risk assessment were included in the study. All of them underwent an MPS one week before surgery. Their preoperative NT-proBNP, troponin levels, and electrocardiograms were obtained one day before surgery and again on day three postoperative. The predictive efficacy of NT-proBNP levels and MPS were compared. Results: Seventy-eight patients underwent surgery, three of which exhibited a rise in troponin level, six showed changes on electrocardiogram, and pulmonary edema was detected in one, three days after surgery. There was no mortality in our patients. The sensitivity and specificity of the MPS for predicting postoperative cardiovascular complications were 100% and 66%, respectively. MPS also had a positive predictive value of 20% and a negative predictive value of 100% in our study. A 332.5 pg/ml cut-off value for NT-proBNP level yielded a sensitivity of 100%, specificity of 79.2%, positive predictive value of 40%, and negative predictive value of 100%. Conclusions: Our study reveals the incremental specificity and positive predictive value of NT-proBNP level measurement in preoperative cardiovascular risk evaluation compared to MPS. Given the low feasibility, high costs, and disappointing predictive value of MPS, preoperative NT-proBNP level assessment can be substituted. This method can assist anesthesiologists and surgeons with precisely detecting at-risk patients resulting in taking proper measures to reduce the morbidity and mortality of the proposed patients before and during surgeries. [ABSTRACT FROM AUTHOR]

The inter-individual variability of CYP450s enzyme activity may be reduced by comparing the effects of bariatric surgery on CYP-mediated drug elimination in comparable patients before and after surgery. The current research will use a low-dose phenotyping cocktail to simultaneously evaluate the activities of six CYP isoforms and P-gp. The results showed that following weight reduction after surgery, the activity of all enzymes increased compared to the obese period, which was statistically significant in the case of CYP3A, CYP2B6, CYP2C9, and CYP1A2. Furthermore, the activity of P-gp after surgery decreased without reaching a statistical significance (p-value > 0.05). Obese individuals had decreased CYP3A and CYP2D6 activity compared with the control group, although only CYP3A was statistically important. In addition, there was a trend toward increased activity for CYP1A2, CYP2B6, CYP2C9, and CYP2C19 in obese patients compared to the control group, without reaching statistical insignificance (p-value ≥ 0.05). After six months (at least), all enzymes and the P-gp pump activity were significantly higher than the control group except for CYP2D6. Ultimately, a greater comprehension of phenoconversion can aid in altering the patient's treatment. Further studies are required to confirm the changes in the metabolic ratios of probes after bariatric surgery to demonstrate the findings' clinical application. As a result, the effects of inflammation-induced phenoconversion on medication metabolism may differ greatly across persons and drug CYP pathways. It is essential to apply these results to the clinic to recommend dose adjustments. [ABSTRACT FROM AUTHOR]

Objective(s): The prevalence of coronary artery disease (CAD) is high in patients with epilepsy using antiepileptic drugs (AED). Epilepsy, AED, or the type and duration of AED use, may contribute to higher CAD risk. In this study, myocardial perfusion imaging (MPI) was compared between patients using carbamazepine and valproate. Method: Out of 73 patients receiving carbamazepine or valproate monotherapy for more than 2 years, visited at a tertiary referral clinic, 32 patients participated in a 2-day stress and rest phases MPI. For each phase, 15-25 mCi 99mTc-MIBI was injected, at peak exercise or by pharmacologic stimulation for the stress phase. SPECT with cardiac gating was done by a dual-head gamma camera and processed and quantified. Scans with at least one definite reversible hypo-perfusion segment were considered abnormal. Results: Seventeen patients received carbamazepine monotherapy and 15 valproates. Age and duration of AED use were similar between the groups. Two scans were abnormal (6.3%) both in valproate group (13.3%). Duration of AED use was higher in patients with abnormal scans. In patients receiving monotherapy >2 years, the frequency of abnormal MPI was similar between groups (P-value=0.12). In patients receiving monotherapy > 5 years, prevalence of abnormal MPI was higher in the valproate group (28.6% vs. 0.0%; P-value=0.042). Considering valproate subgroup, ischemic patients had higher duration of AED use, comparing with the normal patients (17.0±4.2 vs. 6.4±4.8, P-value=0.014). Conclusion: MPIs were abnormal in patients receiving valproate after 5 years compared to patients receiving carbamazepine. Long-term valproate use may increase the risk of CAD. [ABSTRACT FROM AUTHOR]

Background: In acute myocardial infarction (AMI), timely recognition of symptoms and early hospital presentation positively affect patient morbidity and mortality. Due to the high burden of ischemic heart disease in Iran, this study aimed to identify factors affecting the level of knowledge, responses at the time of AMI onset, and sources of health information among the Iranian population. Method: This cross-sectional study was conducted in three tertiary hospitals in Tehran, Iran. An expert-validated questionnaire was used to obtain data. A total of 400 individuals were enrolled. Result: Among the respondents, 285 people(71.3%) considered "chest pain or discomfort," and 251 (62.7%) regarded "pain or discomfort in the arm or shoulder" as MI symptoms. Approximately 288 (72.0%) respondents had poor knowledge of the AMI symptoms. Knowledge of symptoms was higher among those with higher levels of education, those with medical-associated jobs, and those who resided in the capital areas. Major risk factors identified by the participants were: anxiety (340)(85.0%), obesity (327)(81.8%), an unhealthy diet (325)(81.3%), and the presence of high LDL levels (258)(64.5%) and Diabetes Mellitus (164)(41.0%) were less appreciated. Calling an ambulance (286)(71.5%) was the most common treatment-seeking behavior in the case of a suspected heart attack. Conclusion: It is vital to educate the general population about AMI symptoms, particularly those with comorbidities at the greatest risk for an AMI episode. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Cardiac hydatidosis is a relatively rare complication of echinococcosis. Understanding the atypical manifestations, potential associated risk factors, and epidemiology leads to optimal and timely management. Cardiac hydatidosis is a relatively rare complication of echinococcosis, with a potentially life‐threatening condition. Here, we reported a large interventricular septal hydatid cyst bulging in the left ventricle accompanied by a huge cervical lamp with recurrent hepatic cysts that underwent cardiac surgery to excise the cyst uneventfully. [ABSTRACT FROM AUTHOR]

Background: Nearly half of the patients with hypereosinophilic syndrome (HES) have cardiovascular involvement, a major cause of mortality. COVID-19 infection can lead to cardiac involvement, negatively impacting the clinical course and prognosis. We reported two patients with HES complicated by COVID-19, with cardiac involvement and valve replacement. Case presentation: Our first patient was a 27-year-old woman admitted due to dyspnea and signs of heart failure. She had severe mitral stenosis and mitral regurgitation on the echocardiogram. Corticosteroid therapy improved her symptoms initially, but she deteriorated following a positive COVID-19 test. A repeated echocardiogram showed right ventricular failure, severe mitral regurgitation, and torrential tricuspid regurgitation and, she underwent mitral and tricuspid valve replacement. Our second patient was a 43-year-old man with HES resulted in severe tricuspid stenosis, which was improved with corticosteroid treatment. He underwent tricuspid valve replacement due to severe valvular regurgitation. He was admitted again following tricuspid prosthetic mechanical valve thrombosis. Initial workups revealed lung involvement in favor of COVID-19 infection, and his PCR test was positive. Conclusion: COVID-19 infection can change the clinical course of HES. It may result in a heart failure exacerbation due to myocardial injury and an increased risk of thrombosis in prosthetic valves or native vessels due to hypercoagulability. [ABSTRACT FROM AUTHOR]

Congenital heart disease is a risk factor for infective endocarditis (IE). Ventricular septal defects and ventricular outflow tract obstructions are this population's most common causes of endocarditis. We present a patient diagnosed with leukocytoclastic vasculitis, renal, and pulmonary involvement with right‐sided IE as an etiology for vasculitis. Clinical presentations of many rheumatologic and infectious diseases overlap considerably with IE. Attention to the predisposing condition, notably congenital heart disease, should lead to the earlier use of echocardiography. [ABSTRACT FROM AUTHOR]

Background: Aortic pseudoaneurysm is an infrequent complication of ascending aorta surgery. Cases: This is a report of two cases that underwent the Bentall procedure that presented with large pseudoaneurysms. Conclusion: Use of multimodality imaging after Bentall surgery has been advocated for the detection of surgical complications. Although 3D CT angiography has the highest diagnostic accuracy, familiarity with transthoracic echocardiographic finding in these patients will lead to earlier diagnosis. [ABSTRACT FROM AUTHOR]

BACKGROUND: Knowledge of the genes responsible for intellectual disability, particularly autosomal recessive forms, is rapidly expanding. Increasing numbers of the gene show great heterogeneity and supports the hypothesis that human genome may contain over 2000 causative genes with a critical role in brain development. METHODS: Since 2004, we have applied genome-wide SNP genotyping and next-generation sequencing in large consanguineous Iranian families with intellectual disability, to identify the genes harboring disease-causing mutations. The current study paved the way for identification of responsible genes in two unrelated Iranian families. RESULTS: We found two novel nonsense mutations, p.C77* and p.Q115*, in the calpain catalytic domain of CAPN10, which is a cysteine protease known to be involved in pathogenesis of noninsulin-dependent diabetes mellitus. Another different mutation in this gene (p.S138_R139ins5) has previously been reported in an Iranian family. All of these patients have common clinical features in spite of specific brain structural abnormalities on MRI. CONCLUSIONS: Different mutations in CAPN10 have already been found in three independent Iranian families. These results have strongly supported the possible role of CAPN10 in human brain development. Altogether, we proposed CAPN10 as a promising candidate gene for intellectual disability, which should be considered in diagnostic gene panels. [ABSTRACT FROM AUTHOR]

Background: Patients with moderate-severe left ventricular systolic dysfunction undergoing coronary artery bypass graft (CABG) surgery are at high risk of mortality and morbidity. Our aim is to evaluate the right ventricular (RV) diastolic function in these patients, and monitor its effects on postoperation outcomes. Materials and Methods: In a cohort study, patients with moderate-severe left ventricular systolic dysfunction (ejection fraction ≤35%) who were candidate for CABG were included. Baseline transthoracic echocardiography (TTE) was performed, and RV diastolic function measures were obtained. After CABG, the length of intubation, inotrope dependency, hospital stay in intensive care unit and ward, in-hospital and after discharge mortality, postoperative atrial fibrillation (POAF) were evaluated in all patients. Results: Sixty-seven patients were prospectively included in the study. The mean ± standard deviation age of our patients was 61.4 ± 9.3. There was no difference between grades of RV diastolic function and postoperative outcomes. However, we found significant difference between grades of RV diastolic function and onset of in hospital, and total POAF (P-value = 0.017). Multivariate analysis demonstrated that preoperative tricuspid Et/E't (ratio of peak early-diastolic flow rate across the tricuspid valve orifice to peak early-diastolic velocity at the lateral tricuspid annulus), left atrial volume and "high risk" Euroscore II were independent predictors for POAF during hospitalization and total POAF in patients with moderate to severely impaired left ventricular systolic function (P-values were 0.04, 0.003 and 0.001, respectively). Conclusion: We believe that patients with increased tricuspid Et/E't are high risk for POAF; therefore, any risk score for POAF should include a comprehensive TTE including evaluation of RV diastolic function before surgery. [ABSTRACT FROM AUTHOR]

Background: The role of reactive oxygen species (ROS) in the pathogenesis of different cardiac diseases has been documented. Recently, effect of allopurinol in decreasing the production of ROS and improving cardiovascular pathogenesis has come into scientific interest. Animal studies have documented the benefit of allopurinol in improving left ventricular dilatation, hypertrophy and fibrosis, and myocardial contractility and in the prevention of systemic vasoconstriction. The aim of this study was to evaluate the effect of allopurinol in improving diastolic dysfunction in ESRD patients with hyperuricemia. Methods: This was an interventional study on 28 patients (19 males and 9 females) with ESRD and hyperuricemia. At the end of a one-month course of allopurinol therapy (100 mg daily), echocardiographic indices of diastolic dysfunction were measured and compared to the baseline indices. Results: The mean level of uric acid was 7.5±0.96 mg/dl. The mean EF before and after the study were %44.28±%9.8 and %44.64±%9.7, (no significant difference), Respectively. The two indices of IVCT and A reversal were shown to have significant improvement after therapy (p=0.028 and 0.012, respectively). The grading of diastolic dysfunction didn't improve significantly after treatment with allopurinol. Conclusion: Significant improvement in some of studied indices, reproduced only in male subgroup of patients that might be related to a better response of males to allopurinol, however, a longer course of treatment may result in more favorable responses. Better patient selection in terms of "EF"s with normal distribution and repeating the study in non-dialysis hyperuricemic patients may result in more accurate information. [ABSTRACT FROM AUTHOR]

Background: Endometriosis is one of the most challenging diseases that constitute 20% - 40% of women searching for their infertility diagnosis. Objective: This study was undertaken in order to compare the outcome of in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) in women with endometriosis, and tubal factor infertility as controls. Materials and Methods: From 2005 to 2006 a retrospective study was carried out in patients with endometriosis (n=80) and tubal infertility (n=57) after treatment with IVF/ICSI. The main outcome measures were ovarian responsiveness, quality of oocytes, implantation, pregnancy and ongoing pregnancy rates. Appropriate statistical analysis was performed using 2 and student t-tests. Results: No differences were found in mean number of ampoules of hMG, duration of hMG injection, number of MII oocytes, number of embryo transferred, and rates of implantation, pregnancy, ongoing pregnancy and twin birth between women with endometriosis and tubal infertility and also between women with stages I/II or those with stages III/IV disease with women with tubal factor infertility. Conclusion: Our results suggest that endometriosis does not seem to have adverse effect on outcome of IVF/ ICSI as compared with tubal infertility. [ABSTRACT FROM AUTHOR]

Background: Osteoporosis is one of the most common bone system diseases that is associated with an increased risk of bone fractures and causes many complications for patients. With age, the prevalence of this disease increases so that it has become a serious problem among the elders. In this study, the prevalence of osteoporosis among elders around the world is examined to gain an understanding of its prevalence pattern. Methods: In this systematic review and meta-analysis, articles that have focused on prevalence of osteoporosis in the world's elders were searched with these key words, such as Prevalence, Osteoporosis, Elders, Older adult in the Science Direct, Embase, Scopus, PubMed, Web of Science (WoS) databases and Google Scholar search engine, and extracted without time limit until March 2020 and transferred to information management software (EndNote). Then, duplicate studies were eliminated and the remaining studies were evaluated in terms of screening, competence and qualitative evaluation based on inclusion and exclusion criteria. Data analysis was performed with Comprehensive Meta-Analysis software (Version 2) and Begg and Mazumdar test was used to check the publication bias and I2 test was used to check the heterogeneity. Results: In a review of 40 studies (31 studies related to Asia, 5 studies related to Europe and 4 studies related to America) with a total sample size of 79,127 people, the prevalence of osteoporosis in the elders of the world; 21.7% (95% confidence interval: 18.8–25%) and the overall prevalence of osteoporosis in older men and women in the world, 35.3% (95% confidence interval: 27.9–43.4%), 12.5% (95% confidence interval: 9.3–16.7%) was reported. Also, the highest prevalence of osteoporosis in the elders was reported in Asia with; 24.3% (95% confidence interval: 20.9–28.1%). Conclusion: The results of the present study showed that the prevalence of osteoporosis in the elders and especially elders' women is very high. Osteoporosis was once thought to be an inseparable part of elders' lives. Nowadays, Osteoporosis can be prevented due to significant scientific advances in its causes, diagnosis, and treatment. Regarding the growing number of elderly people in the world, it is necessary for health policy-makers to think of measures to prevent and treat osteoporosis among the elders. [ABSTRACT FROM AUTHOR]

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder, characterized by lower-limb spasticity and weakness. To date, more than 82 loci/genes (SPG1-SPG82) have been identified that contribute to the cause of HSP. Despite the use of next-generation sequencing-based methods, genetic-analysis has failed in the finding of causative genes in more than 50% of HSP patients, indicating a more significant heterogeneity and absence of a given phenotype-genotype correlation. Here, we performed whole-exome sequencing (WES) to identify HSP-causing genes in three unrelated-Iranian probands. Candidate variants were detected and confirmed in the probands and co-segregated in the family members. The phenotypic data gathered and compared with earlier cases with the same sub-types of disease. Three novel homozygous variants, c.978delT; p.Q327Kfs*39, c.A1208G; p.D403G and c.3811delT; p.S1271Lfs*44, in known HSP-causing genes including ENTPD1, CYP7B1, and ZFYVE26 were identified, respectively. Intra and interfamilial clinical variability were observed among affected individuals. Mutations in CYP7B1 and ZFYVE26 are relatively common causes of HSP and associated with SPG5A and SPG15, respectively. However, mutations in ENTPD1 are related to SPG64 which is an ultra-rare form of HSP. The research affirmed more complexities of phenotypic manifestations and allelic heterogeneity in HSP. Due to these complexities, it is not feasible to show a clear phenotype-genotype correlation in HSP cases. Identification of more families with mutations in HSP-causing genes may help the establishment of this correlation, further understanding of the molecular basis of the disease, and would provide an opportunity for genetic-counseling in these families. [ABSTRACT FROM AUTHOR]

Human post-natal neurodevelopmental delay is often associated with cerebral alterations that can lead, by themselves or associated with peripheral deficits, to premature death. Here, we report the clinical features of 10 patients from six independent families with mutations in the autosomal YIF1B gene encoding a ubiquitous protein involved in anterograde traffic from the endoplasmic reticulum to the cell membrane, and in Golgi apparatus morphology. The patients displayed global developmental delay, motor delay, visual deficits with brain MRI evidence of ventricle enlargement, myelination alterations and cerebellar atrophy. A similar profile was observed in the Yif1b knockout (KO) mouse model developed to identify the cellular alterations involved in the clinical defects. In the CNS, mice lacking Yif1b displayed neuronal reduction, altered myelination of the motor cortex, cerebellar atrophy, enlargement of the ventricles, and subcellular alterations of endoplasmic reticulum and Golgi apparatus compartments. Remarkably, although YIF1B was not detected in primary cilia, biallelic YIF1B mutations caused primary cilia abnormalities in skin fibroblasts from both patients and Yif1b-KO mice, and in ciliary architectural components in the Yif1b-KO brain. Consequently, our findings identify YIF1B as an essential gene in early post-natal development in human, and provide a new genetic target that should be tested in patients developing a neurodevelopmental delay during the first year of life. Thus, our work is the first description of a functional deficit linking Golgipathies and ciliopathies, diseases so far associated exclusively to mutations in genes coding for proteins expressed within the primary cilium or related ultrastructures. We therefore propose that these pathologies should be considered as belonging to a larger class of neurodevelopmental diseases depending on proteins involved in the trafficking of proteins towards specific cell membrane compartments. [ABSTRACT FROM AUTHOR]

During the novel coronavirus pandemic, organ transplant recipients represent a frail susceptible category due to long‐term immunosuppressive therapy. For this reason, clinical manifestations may differ from general population and different treatment approaches may be needed. We present the case of a 36‐year‐old kidney‐transplanted woman affected by Senior‐Loken syndrome diagnosed with COVID‐19 pneumonia after a contact with her positive mother. Initial symptoms were fatigue, dry cough, and coryza; she never had fever nor oxygen supplementation. Hydroxychloroquine and lopinavir/ritonavir were started, and the antiviral drug was replaced with darunavir/cobicistat after 2 days for diarrhea. Immunosuppressant levels were closely monitored, and we observed very high tacrolimus trough levels despite initial dose reduction. The patient was left with steroid therapy alone. The peculiarity of clinical presentation and the management difficulties represent the flagship of our case report. We stress the need for guidelines in transplant recipients with COVID‐19 infection with particular regard to the management of therapy. [ABSTRACT FROM AUTHOR]

Granulomatosis with polyangiitis (GPA), necrotizing vasculitis of small and medium-sized vessels, is traditionally believed to mainly affect respiratory tract with additional focal kidney involvements as its primary manifestations with a relatively rare annual incidence rate of 20-50 cases per million. Six percent of the affected cases have cardiac involvements; among which, aneurysms comprise the lowest penetrance. By this paper, we aim to cast light on clinical diagnostic and treatment methods of a rare case presentation, a 10-year-old male GPA patient, diagnosed with massive thrombosis at his coronary artery aneurysm. GPA should be considered as differential diagnosis of prolong fever and coronary aneurysms in adolescents. [ABSTRACT FROM AUTHOR]

Atrial fibrillation is one of the major predisposing factors in developing left atrial thrombosis, leading to morbidity and mortality. Echocardiography plays a paramount role in this condition's detection and subsequent treatment. [ABSTRACT FROM AUTHOR]

Objective: To report the development of the first robot‐assisted kidney transplantation (RAKT) programme from deceased donors, examining technical feasibility and early perioperative and functional outcomes at a referral academic centre. Patients and Methods: A RAKT programme was developed in 2016 at our institution following structured modular training. Specific inclusion/exclusion criteria for both living and deceased donors were set. Data from patients undergoing RAKT from January 2017 to April 2018 were prospectively collected in an a priori developed web‐based data set. RAKT followed the principles of the Vattikuti Urology Institute–Medanta technique, with specific technical modifications based on clinical recipient characteristics, as well as surgeon's skills and preference during the learning curve. Technical feasibility of RAKT from deceased donors and evaluation of perioperative and early functional outcomes were the main study endpoints. Results: In all, 17 RAKTs were performed during the study period. Of these, six were from living donors and 11 were from deceased donors. All RAKTs were successfully completed without need of conversion. The median (interquartile range [IQR]) console time was 190 (160–220) min and the median (IQR) estimated blood loss was 120 (110–140) mL. The median times to complete venous, arterial and uretero–vesical anastomoses were 21, 22 and 21 min, respectively. The median (IQR) length of stay was 8 (6–12) days. At a median (IQR) follow‐up of 8 (6–11) months, five (30%) complications were recorded. Of these, four (24%) were minor (Clavien–Dindo Grade I–II) and one major (Clavien–Dindo Grade IIIb, requiring graft nephrectomy). Overall, two patients were still on dialysis at last follow‐up. A significant improvement in graft function was recorded progressively at all postoperative time points. Conclusion: Our preliminary experience outlines that: (i) the development of a RAKT programme is feasible in centres experienced in robotic surgery and open kidney transplantation; (ii) RAKT from deceased donors is feasible from both a technical and logistical perspective; and (iii) RAKT from deceased donors appears to achieve favourable early postoperative and functional outcomes. Larger studies with longer follow‐up are needed to confirm these findings and compare the outcomes of RAKT from deceased donors with those from living donors. [ABSTRACT FROM AUTHOR]

Breast cancer is the most common cancer among the female population, and its prevalence is increasing worldwide. Trastuzumab (Herceptin) therapy improves prognosis in HER2 positive patients, but Heart Failure (HF) is one of its known complications. In this study, we aimed to assess the potential benefits of prophylactic carvedilol therapy in patients receiving Herceptin. Sixty five patients with HER2 positive breast cancer were enrolled in the study. All of the patients received Herceptin. Twenty seven patients also received carvedilol 6.25 mg twice daily, and 38 patients had usual care. Echocardiography was performed at baseline, and after three months in both groups and changes in cardiac function, parameters were compared between two groups. After 3 months, LA volume index (P=0.012), TAPSE (P=0.009), Tei index (P=0.015) and Lateral Longitudinal Strain (P=0.024) were significantly better in patients receiving carvedilol. Carvedilol can be effective in the prevention of systolic and diastolic dysfunction following Herceptin therapy. [ABSTRACT FROM AUTHOR]

To present a multiple-instructor, active-learning strategy in the undergraduate medical curriculum. This educational research is a descriptive one. Shared teaching sessions, were designed for undergraduate medical students in six organ-system based courses. Sessions that involved in-class discussions of integrated clinical cases were designed implemented and moderated by at least 3 faculties (clinicians and basic scientists). The participants in this study include the basic sciences medical students of The Tehran University of Medical Sciences. Students' reactions were assessed using an immediate post-session evaluation form on a 5-point Likert scale. Six two-hour sessions for 2 cohorts of students, 2013 and 2014 medical students during their two first years of study were implemented from April 2014 to March 2015. 17 faculty members participated in the program, 21 cases were designed, and participation average was 60 % at 6 sessions. Students were highly appreciative of this strategy. The majority of students in each course strongly agreed that this learning practice positively contributed to their learning (78%) and provided better understanding and application of the material learned in an integrated classroom course (74%). They believed that the sessions affected their view about medicine (73%), and should be continued in future courses (80%). The percentage demonstrates the average of all courses. The program helped the students learn how to apply basic sciences concepts to clinical medicine. Evaluation of the program indicated that students found the sessions beneficial to their learning. [ABSTRACT FROM AUTHOR]

Abstract: According to a k/DOQI work group, chronic kidney disease (CKD) can be present also in subjects with glomerular filtration rate (GFR) >90 mL/min or a serum creatinine (sCr) below 1.3 mg/dL. The aim of this study was to document the prevalence of clinical or biologic abnormalities among 190 cadaveric renal transplant patients with excellent and stable renal function at 6 months after transplantation as well as 5 years later. The recipients were 82 women and 108 men of mean age at transplantation of 44.56 ± 11.73 years. All patients were on Neoral-based immunosuppression with at least 5-year follow-up. Mean sCr was 1.18 ± 0.2 mg/dL. Mean GFR was 78.57 ± 27.06 mL/min. Systolic blood pressure was >130 mm Hg in 56.6%, although 78.3% of patients were on antihypertensive therapy; 34.3% were anemic; 75.4% had serum cholesterol >200 mg/dL; 62.2% had serum triglyceride levels >170 mg/dL. Serum intact parathyroid hormone >100 pg/mL was observed in 38% of patients and 43% were on vitamin D supplementation, and 11.4% had developed posttransplant diabetes mellitus. With respect to controls, von Willebrand factor was higher in 81.2% (P < .0001; RR = 11); serum homocysteine levels in 75% (P < 0.001; RR = 7.61); PAI-1 in 37.5% (P = .0009; RR = 4). At 5 years posttransplantation we observed an overall improvement in these abnormalities. The vast majority of renal transplant patients with excellent graft function belong to stage 1 of CKD being affected by hypertension, dyslipidemia, anemia, and residual hyperparathyroidism. Markers of endothelial dysfunction were largely abnormal, a condition that could predispose to cardiovascular events. [Copyright &y& Elsevier]

Background: We performed comprehensive transmitral and pulmonary venous Doppler echocardiographic studies to devise a novel index of diastolic function. This is the first study to assess the utility of the acceleration rate (AR) of the E wave of mitral inflow as a primary diagnostic modality for assessing diastolic function.Methods: Study group consisted of 84 patients (53 + 11 years) with left ventricle (LV) diastolic dysfunction and 34 healthy people (35 ± 9 years) as control group, who were referred for clinically indicated two-dimensional transthoracic echocardiogram (TTE) during 2012 and 2013 to Imam Hospital. Normal controls were defined as patients without clinical evidence of cardiac disease and had normal TTE. LV diastolic function was determined according to standardized protocol of American Society of Echocardiography (ASE). As our new parameter, AR of E wave of mitral inflow was also measured in all patients. It was represented by the slope of the line between onset of E wave and peak of it. Correlation between AR of E wave and LV diastolic function grade was measured using the Spearman correlation coefficient. Receiver operating characteristic (ROC) curve was used to determine the sensitivity and specificity of AR of E wave in diagnosing LV diastolic dysfunction in randomly selected two-thirds of population then its derived cutoff was evaluated in rest of the population. The institutional review board of the hospital approved the study protocol. All participants gave written informed consent. This investigation was in accordance with the Declaration of Helsinki.Results: The mean value of AR was 1010 ± 420 cm/s(2) in patients whereas the mean value for the normal controls was 701 ± 210 cm/s(2). There was a strong and graded relation between AR of E wave of mitral inflow and LV diastolic function grade (Spearman P ≤0.0001, rs =0.69). ROC curve analysis revealed that AR of E wave of mitral inflow =750 cm/s(2) predicted moderate or severe LV diastolic dysfunction with 89 % sensitivity and 89 % specificity (area under curve [AUC] = 0.903, P <0.0001). Application of this cutoff on test group showed 96 % sensitivity and 77 % specificity with AUC = 0.932 and P <0.0001.Conclusion: AR of E wave of mitral inflow could be used for assessment of diastolic function, especially moderate or severe diastolic dysfunction. However, before its clinical application, external validation should be considered. [ABSTRACT FROM AUTHOR]

Background: The genetic basis of longevity is an important field of study because the majority of supercentenarian cases experience healthy aging and may only show age-related diseases in their last few years of life. It is clear that genetic factors play an important role in survival beyond 90 years of age, but the exact relationship of genetic variants to this phenomenon remains unknown. Objective: The aim of this project was to investigate different hypotheses that describe the relationship between genetic variants and human longevity in a living Iranian man by Whole Exome Sequencing (WES). Methods: Initially, we conducted high quality DNA extraction on a peripheral blood sample. Then, WES was performed on the DNA and different bioinformatic software packages and databases were used to analyze the data. Tertiary analysis was performed on four genetic hypotheses for longevity. Results: Analysis showed that among 27 metabolic variants which are related to longevity, 18 variants encompassed the exceptional longevity aliele. In comparison with the NHGRI GWAS catalog, the case had 58 trait-associated variants of which 11 were homozygous for the risk aliele. We also discovered 25 novel variants within candidate genes for aging and longevity and we detected seven longevity-associated variants in the sample. Conclusion: This study was performed on just one sample and so the results cannot be interpreted as a generalized principle for other elderly societies, but this is the first step towards investigation of the genetic basis of longevity in Iran and provides an insight for further studies in the field of longevity. [ABSTRACT FROM AUTHOR]

Background: Tef (Eragrostis tef), an indigenous cereal critical to food security in the Horn of Africa, is rich in minerals and protein, resistant to many biotic and abiotic stresses and safe for diabetics as well as sufferers of immune reactions to wheat gluten. We present the genome of tef, the first species in the grass subfamily Chloridoideae and the first allotetraploid assembled de novo. We sequenced the tef genome for marker-assisted breeding, to shed light on the molecular mechanisms conferring tef’s desirable nutritional and agronomic properties, and to make its genome publicly available as a community resource. Results: The draft genome contains 672 Mbp representing 87% of the genome size estimated from flow cytometry. We also sequenced two transcriptomes, one from a normalized RNA library and another from unnormalized RNASeq data. The normalized RNA library revealed around 38000 transcripts that were then annotated by the SwissProt group. The CoGe comparative genomics platform was used to compare the tef genome to other genomes, notably sorghum. Scaffolds comprising approximately half of the genome size were ordered by syntenic alignment to sorghum producing tef pseudo-chromosomes, which were sorted into A and B genomes as well as compared to the genetic map of tef. The draft genome was used to identify novel SSR markers, investigate target genes for abiotic stress resistance studies, and understand the evolution of the prolamin family of proteins that are responsible for the immune response to gluten. Conclusions: It is highly plausible that breeding targets previously identified in other cereal crops will also be valuable breeding targets in tef. The draft genome and transcriptome will be of great use for identifying these targets for genetic improvement of this orphan crop that is vital for feeding 50 million people in the Horn of Africa. [ABSTRACT FROM AUTHOR]

Background: Hemorrhoid is among the most common anorectal diseases and patients with high-grade disease conditions need surgical treatment. Many surgical procedures are available to treat the disease. The aim of this study was to compare the operative time and outcomes, (post-operative pain and complications) of LigaSure hemorrhoidectomy with those of the open conventional method. Methods: This randomized single-blind clinical trial included 57 patients (28 in LigaSure and 29 in the open group). The primary variable was the operative time for the excision of a single hemorrhoidal packet. The other variables were post-operative pain measured by morphine doses administered to control pain, scores of visual analogue scale (VAS) used to measure pain severity, pain during home stay measured by doses of oral ibuprofen and the mean daily VAS scores, early complications including bleeding and urinary retention, longer-term complications and time to return to work. Results: The demographic data were comparatively the same between the two groups. The average time to excise a single packet of hemorrhoid was significantly shorter in the LigaSure group (8.91 min vs. 17.35 min, P<0.001). Post-operative pain measurements (morphine doses and VAS scores) were lower in the LigaSure group, but the differences were not statistically significant (P=0.055 and 0.077, respectively). Complications of the two procedures were also comparable. Neither of the groups returned to work in a shorter time. Conclusion: LigaSure hemorrhoidectomy seems to be a safe method and it can reduce the operative time significantly. It may also have a modest effect on post-operative pain. [ABSTRACT FROM AUTHOR]

Common diseases are often complex because they are genetically heterogeneous, with many different genetic defects giving rise to clinically indistinguishable phenotypes. This has been amply documented for early-onset cognitive impairment, or intellectual disability, one of the most complex disorders known and a very important health care problem worldwide. More than 90 different gene defects have been identified for X-chromosome-linked intellectual disability alone, but research into the more frequent autosomal forms of intellectual disability is still in its infancy. To expedite the molecular elucidation of autosomal-recessive intellectual disability, we have now performed homozygosity mapping, exon enrichment and next-generation sequencing in 136 consanguineous families with autosomal-recessive intellectual disability from Iran and elsewhere. This study, the largest published so far, has revealed additional mutations in 23 genes previously implicated in intellectual disability or related neurological disorders, as well as single, probably disease-causing variants in 50 novel candidate genes. Proteins encoded by several of these genes interact directly with products of known intellectual disability genes, and many are involved in fundamental cellular processes such as transcription and translation, cell-cycle control, energy metabolism and fatty-acid synthesis, which seem to be pivotal for normal brain development and function. [ABSTRACT FROM AUTHOR]

In this retrospective study, we compared the outcome of renal transplanted patients who received everolimus (EVR) (C0: 8–12 ng/mL) + cyclosporine (CsA) (C2: 150–300 ng/mL) + steroids, vs those who received enteric-coated mycophenolate sodium (EC-MPS) (1,440 mg/d) + CsA (C2: 500–700 ng/mL) + steroids. Efficacy was evaluated at 5 years. We found a nonsignificant trend toward a better 5-year graft survival (81.2% vs 68.6%) and better graft function (estimated glomerular filtration rate 71.8 ± 35.7 vs 60.0 ± 26.2 mL/min, P = .114) in favor of the EVR group. In our experience, EVR with a very low dose of CsA was associated with a nonstatistical trend toward better renal function and graft survival compared to a standard regimen of CsA and EC-MPS. [ABSTRACT FROM AUTHOR]

Bile duct injuries are well-known complications of laparoscopic and open cholecystectomies. Here, we report anastomosis of the common bile duct to the transverse colon that occurred as a complication of laparoscopic cholecystectomy. To the best of our knowledge, a similar case has not been reported in the literature so far. As in our patient, persistent diarrhea (in addition to fever and icterus) can be a warning sign of complication after these procedures. Surgeons who do advanced laparoscopic techniques must be familiar with this complication. [ABSTRACT FROM AUTHOR]

Abstract: We reviewed available, particularly epidemiological data regarding transplantation of organs from donors positive for hepatitis B core antibodies (HBcAb) to evaluate the possibility of transmitting the disease. For nonhepatic organs, the risk is low: higher for lung but lower for kidneys and heart, according to the quantity of lymphoid tissue. The use of such organs is increasing owing to the worldwide organ shortage. Unfortunately, even if the use of HBcAb-positive donors does not seem to affect patient or graft survival, the United Network for Organ Sharing and United States Renal Data System registries do not have data on hepatitis B incidence after transplantation. Cohort data suggest that the use of such donors is safe if one follows suggested guidelines. In particular, recipients with no evidence of HBsAb should receive prophylaxis with either lamivudine or HB immunoglobulin. Our data show a 15%–20% incidence of HBcAb-positive donors, as in other European countries. The 1-year graft outcomes are good, with a 3% seroconversion rate to HB surface antigen. [Copyright &y& Elsevier]

Abstract: Preemptive kidney transplantation is performed before the initiation of chronic dialysis. Preemptive transplantation is the best treatment modality for patients reaching end-stage renal disease. The Tuscany region has experienced, in the last years, a marked increase in donation rate. Starting from 2006, the first Italian cadaveric preemptive transplant program was activated. The aim of our study was to investigate the characteristics and preliminary results of this program. Among 163 patients entered on to the waiting list for renal transplantation from October 2006 to October 2008, 120 (73.6%) were on dialysis for 21.3 ± 17.8 months, whereas 43 patients (26.4%) had not yet been on dialysis (preemptive). Eighty two patients (50.3%) resided in Tuscany and 81 (49.7) outside Tuscany; 36.6% of Tuscany patients and 16% of extraregional patients (P = .003) were listed as preemptive. Fifty-eight of 163 (35.6%) patients were transplanted during the period after a mean waiting time of 10.3 ± 6.4 months. The estimated overall man waiting time was 17.5 months (confidence interval (CI) = 15.8–19.2). Upon Cox multivariate analysis, the probability of transplantation was similar for preemptive and dialysed patients (relative risk [RR] 1.02, P = NS). According to local allocation policy, only residents of Tuscany showed a significant advantage in both groups (RR = 0.43, CI = 0.24–0.75, P = .003). Two-year graft and patients survivals were similar, but delayed graft function was lower in the preemptive group (13% vs 42%, P = .007). The 1-year serum creatinine was 1.56 ± 0.43 in the preemptive group and 1.68 ± 0.92 in the dialysis group (P = NS). No differences were observed concerning rejection rate. The preemptive listing rate for cadaveric renal transplantation was more than 35% for Tuscany patients. [Copyright &y& Elsevier]

Abstract: Squamous cell carcinoma of the skin (SCC) is the most frequent cancer in renal transplant recipients. Conversion to mammalian target of rapamycin inhibitors after diagnosis of SCC may reduce the incidence of recurrence of skin cancer. This retrospective study evaluated the outcome of renal transplant recipients followed by the Renal Unit with posttransplant diagnosis of SCC treated with conversion from calcineurin inhibitors (CNIs) to Everolimus (EVR) associated with low-dose cyclosporine. Eleven patients developed SCC at a median time from renal transplantation of 107 months (range 36–264). Five patients with creatinine clearance (CCl) below 40 mL/min before conversion developed end stage renal disease (two cases) or further deterioration of renal function (two cases); only one patient in this group maintained a stable renal function. The remaining six patients with a CC1 greater than 40 mL/min and proteinuria below 0.8 g/24 hours maintained a stable renal function after conversion to EVR at a median follow-up of 22 months (range 15–75). Conversion from CNIs to EVR has been proven safe, effective, and associated with low recurrence of SCC in patients with a CCl >40 mL/min. In the case of preexisting deterioration of renal function or significant proteinuria, conversion to EVR should be carefully evaluated. [Copyright &y& Elsevier]

Abstract: Cardiovascular disease (CVD) is the main cause of morbidity and mortality in renal transplant recipients. The incidence of CVD in this setting is approximately 5-fold greater than in age- and and gender-matched subjects. This excess cardiovascular risk is not completely explained by traditional cardiac risk factors. It has been well documented that these patients show greatly increased prevalence of both fasting and postmethionine-loading hyperhomocysteinemia (hHcy) compared with the general population. An immunosuppressive therapy based on everolimus has been demonstrated to reduce the incidence major adverse coronary events at 4 years compared with azathioprine among heart transplant recipients. In contrast, scarce data are available on the impact of everolimus on emerging risk factors, such as homocysteine (Hcy), in renal transplant recipients. The aim of this study was to evaluate the possibile impact of everolimus compared with other immunosuppressive regimes among 132 stable recipients, including 91 men and 41 women who were at least 1 year after transplant with stable renal function and no clinical evidence of acute or chronic renal graft rejections. We compared 31 subjects on everolimus immunosuppressive therapy (group A) versus 101 on immunosuppressive therapy based on cyclosporine, steroids, and mycophenolate. The Hcy levels were significantly lower among group A patients compared with group B: 16.5 ± 5 μmol/L vs 21.2 ± 11 μmol/L; P < .005. Hyper-Hcy, defined as Hcy levels >15 μmol/L, was diagnosed in 18 out of 31 patients (51%) of group A and in 82 out of 101 patients (81%) of group B. This preliminary study demonstrates a favorable impact of everolimus on a marker of atherothrombosis which is associated with a worse vascular prognosis. [Copyright &y& Elsevier]