Clinicopathological Features of Hereditary Nephritis in the Iranian Population: Analysis of a 14-Year Survey in Kidney Biopsies From a Large Referral Center.

BACKGROUND: Hereditary nephritis (HN), including Alport syndrome (AS) and thin basement membrane nephropathy (TBMN), is a rare genetic cause of hematuria. A definitive diagnosis requires electron microscopy (EM). Therefore, the clinical characteristics of these conditions are less known. This study aimed to determine the percentage and clinicopathological features of HN in patients from a referral center in Iran. METHODS: We checked kidney biopsy reports from 2007 to 2021 and extracted cases with HN. Fresh specimens of the cases diagnosed in the last two years were stained by immunofluorescence (IF) for collagen type IV alpha chains. EM findings in these cases were re-evaluated and categorized as diffuse glomerular basement membrane (GBM) thinning, definite, and suspicious features of AS. RESULTS: We analyzed 3884 pathology reports of kidney biopsies from 2007 to 2021 and identified 210 patients (5.4%) with HN, with a mean age of 13.78±12.42 years old. Hematuria with proteinuria (53.3%), isolated hematuria (44.2%), and proteinuria with hematuria and increased creatinine (2.5%) were found in these patients. The re-evaluation of EM findings revealed GBM thinning, definite, and suspicious findings of AS in 37.5%, 43.8%, and 18.8% cases, respectively. The most common diagnosis in 32 cases after the IF study was X-linked AS (71.9%), and 6.2% of cases were autosomal recessive AS. TBMN and autosomal dominant AS remained the differential diagnoses in 21.9%. CONCLUSION: It was found that EM is helpful for the primary diagnosis of patients with definite AS. Immunostaining improves the diagnostic sensitivity for the differentiation of those with suspicious EM findings and determines the inheritance pattern. However, a multidisciplinary approach for a subset of cases is required for the best diagnosis and management.

Maximum Surgical Blood Ordering Schedule in Common Pediatric Cardiac Surgeries in a Tertiary Center.

Background & Objective: Unnecessary pre-operative ordering of red blood cells (RBCs) in elective surgeries increases costs and waste of blood inventory. Maximum surgical blood order schedule (MSBOS) is a helpful strategy in the estimation of blood units needed for surgery and the prevention of overconsumption. In this study, an MSBOS for pediatric cardiac surgeries is designed. Methods: In this cross-sectional study, we included all pediatric patients who underwent elective cardiac surgery in Children's Medical Center in Tehran, Iran, from March 21, 2019, to September 22, 2019. Data consisted of the type of surgery and the number of blood units transfused and units cross-matched, based on which cross-match to transfusion ratio (CTR), the transfusion index (TI), and transfusion probability (T%) were calculated. Results: Overall 205 pediatric patients were included in the study. Four hundred and ten RBCs units were cross-matched, and 262 were transfused. The overall results of the CTR, T%, and TI for all the eight types of cardiac surgery were 1.56 (410/262), 76% (157/205), and 1.28 (262/205), respectively. The raw MSBOS for cardiac surgeries included ventricular septal defect, tetralogy of fallot, dextro-transposition of the great arteries, atrial septal defect, aortic coarctation, patent ductus arteriosus, pulmonary stenosis, and pacemaker insertion, which were 1.58, 1.03, 1.54, 1.66, 0.77, 0, 1.25, and 0 unit, respectively, and the figures were rounded up. Conclusion: Accurate MSBOS protocols reduce cross-match workload in laboratories, lead to the appropriate use of blood stocks with less wastage, save human and economic resources, and eventually, promote patient safety.

Central nervous system Aspergillus quadrilineatus infection in a COVID-19 patient, a case report and literature review.

BACKGROUND: Viral pneumonia such as COVID-19-associated aspergillosis could increase susceptibility to fungal super-infections in critically ill patients. METHODS: Here we report a pediatric case of Aspergillus quadrilineatus cerebral infection in a recently diagnosed COVID-19-positive patient underlying acute lymphocytic leukemia. Morphological, molecular methods, and sequencing were used to identify this emerging species. RESULTS: Histopathological examination showed a granulomatous necrotic area containing dichotomously branching septate hyphae indicating a presumptive Aspergillus structure. The species-level identity of isolate growing on brain biopsy culture was confirmed by PCR sequencing of the ß-tubulin gene as A. quadrilineatus. Using the CLSI M38-A3 broth microdilution methodology, the in vitro antifungal susceptibility testing demonstrated 0.032 µg/mL MIC for posaconazole, caspofungin, and anidulafungin and 8 µg/mL against amphotericin B. A combination of intravenous liposomal amphotericin B and caspofungin therapy for 8 days did not improve the patient's condition. The patient gradually continued to deteriorate and expired. CONCLUSIONS: This is the first COVID-19-associated cerebral aspergillosis due to A. quadrilineatus in a pediatric patient with acute lymphocytic leukemia. However, comprehensive screening studies are highly recommended to evaluate its frequency and antifungal susceptibility profiles. Before being recommended as first-line therapy in high-risk patients, more antifungal susceptibility data are needed.

TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases.

BACKGROUND: A20 haploinsufficiency (HA20) is a newly introduced autosomal dominant autoinflammatory disorder, also known as Behcet's-like disease. Some of the most common symptoms of the disease are recurrent oral, genital, and/or gastrointestinal (GI) ulcers, episodic fever, musculoskeletal symptoms, cutaneous lesions, and recurrent infections. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition of multi-organ failure due to excessive immune activation. HLH has been reported in a few HA20 patients. Herein, we report two children with the primary presentation of HLH, with a mutation in TNFAIP3, in favor of HA20. CASE PRESENTATIONS: Our first patient was a 4-month-old boy who presented with fever, irritability, pallor, and hepatosplenomegaly. Pancytopenia, elevated ferritin, and decreased fibrinogen levels were found in laboratory evaluation. He was diagnosed with HLH and was treated with methylprednisolone and cyclosporine. Two years later, whole exome sequencing (WES) indicated a mutation in TNFAIP3 at NM_001270507: exon3: c.C386T, p.T129M, consistent with A20 haploinsufficiency. Etanercept, a TNF inhibitor, was prescribed, but the parents were reluctant to initiate the therapy. The patient passed away with the clinical picture of cerebral hemorrhage. The second patient was a 3-month-old boy who presented with a fever and hepatosplenomegaly. Laboratory evaluation found pancytopenia, hyperferritinemia, hypoalbuminemia, hypertriglyceridemia, and hypofibrinogenemia. With the establishment of the HLH diagnosis, he was treated with etoposide, dexamethasone, and cyclosporine, and recovered. WES results revealed a heterozygous de novo variant of TNFAIP3 (c. T824C in exon 6, 6q23.3) that leads to a proline to leucine amino acid change (p. L275P). He was treated with etanercept and has been symptom-free afterward. CONCLUSIONS: This report is a hypothesis for developing of the HLH phenotype in the presence of TNFAIP3 mutation. Our results provide a new perspective on the role of TNFAIP3 mutation in HLH phenotypes, but more extensive studies are required to confirm these preliminary results.

Alteration of Plasma Amino Acid Concentrations in Iranian Children with COVID-19.

COVID-19 is an acute viral disease that has so far infected more than 200 million and killed more than four million worldwide. It affects the immune system and other organs. Here, we investigated the level of free plasma amino acids in COVID-19 patients and compared them with non-COVID-19 subjects. We also compared amino acids levels in critically ill patients admitted to the intensive care unit (ICU) with non-ICU patients and expired and recovered patients. Twenty-six COVID-19 patients and 32 non-COVID-19 subjects were included in the study. The mean of glutamic acid, serine, glycine, threonine, phenylalanine, leucine, lysine, alanine, arginine, aspartic acid, and ornithine was significantly higher in cases than controls. In addition, the mean of glutamine was significantly lower in patients than controls (443.89 ± 254.31 vs. 651.73 ± 107.38, PV < 0.001). Low level of glutamine and isoleucine was seen in the majority of ICU and expired patients, respectively. Logistic regression analysis showed low level of isoleucine as a predictor variable in mortality (P = 0.02, EXP (B) = 16.5, and CI 95% = (1.48, -183.07)). There was a positive and significant relationship between some amino acids levels, serum liver enzymes, and sodium concentrations. There was also a significant but negative correlation between histidine levels, ESR, and ferritin. Phenylalanine had a highly positive relationship with serum procalcitonin in patients (R 2 = 0.534, PV = 0.015). Our studies have shown the alteration of plasma amino acids concentration in COVID-19 patients. These changes are more evident in critically ill and at-risk patients.

Identification of microRNAs associated with human fragile X syndrome using next-generation sequencing.

Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene which can lead to a loss or shortage of the FMR1 protein. This protein interacts with specific miRNAs and can cause a range of neurological disorders. Therefore, miRNAs could act as a novel class of biomarkers for common CNS diseases. This study aimed to test this theory by exploring the expression profiles of various miRNAs in Iranian using deep sequencing-based technologies and validating the miRNAs affecting the expression of the FMR1 gene. Blood samples were taken from 15 patients with FXS (9 males, 6 females) and 12 controls. 25 miRNAs were differentially expressed in individuals with FXS compared to controls. Levels of 9 miRNAs were found to be significantly changed (3 upregulated and 6 downregulated). In Patients, the levels of hsa-miR-532-5p, hsa-miR-652-3p and hsa-miR-4797-3p were significantly upregulated while levels of hsa-miR-191-5p, hsa-miR-181-5p, hsa-miR-26a-5p, hsa-miR-30e-5p, hsa-miR-186-5p, and hsa-miR-4797-5p exhibited significant downregulation; and these dysregulations were confirmed by RT-qPCR. This study presents among the first evidence of altered miRNA expression in blood samples from patients with FXS, which could be used for diagnostic, prognostic, and treatment purposes. Larger studies are required to confirm these preliminary results.

COVID-19 related callback in blood donors; Outcomes in blood donors and patients.

Call back as a procedure to report post donation symptoms or illness by donors has been established since 2009 in Iranian Blood Transfusion Organization (IBTO). During the first phase of COVID-19 outbreak, all blood donors were requested to report any respiratory infection symptoms after donation. The study investigated the callback data of COVID-19 in Tehran Blood Center during the first 3 months of the outbreak in Iran. The purpose of this study was to estimate the frequency of post donation COVID-19 related call back reports and determine its implications for blood donors and patients. A telephone interview was conducted with donors who had reported COVID-19 symptoms. Some questions were asked to evaluate donor's health at the time of blood donation. The donors categorized into three groups: laboratory-confirmed, suspected, and COVID-19 irrelevant based on their answers. In cases that the blood component obtained from a laboratory-confirmed donor had been released, the hospital was notified and asked to follow up the recipient for COVID-19. The results showed 30 donors (0.08 %) had callback related to COVID-19 and 76.63 % of the obtained component was disposed. The results also showed that only one donor had a laboratory-confirmed result with the RBC unit processed from her whole blood released for transfusion. The RBC unit recipient did not show any signs or symptoms of infection during a 46-day follow-up. Concluded that callback system was effective to remove most of the components obtained from the donors who reported to be COVID-19 suspected or confirmed. Moreover, the result did not support virus transmission through blood transfusion.

Case Report: Encephalitis Caused by Balamuthia mandrillaris in a 3-Year-Old Iranian Girl.

It is about half a century since free-living amoebae were recognized as pathogenic organisms, but there is still much we should learn about these rare fatal human infectious agents. A recently introduced causative agent of granulomatous amoebic encephalitis, Balamuthia mandrillaris, has been reported in a limited number of countries around the world. A 3-year-old girl was referred to our tertiary hospital because of inability to establish a proper diagnosis. She had been experiencing neurologic complaints including ataxia, altered level of consciousness, dizziness, seizure, and left-sided hemiparesis. The patient's history, physical examination results, and laboratory investigations had led to a wide differential diagnosis. Computed tomography (CT) scan and magnetic resonance imaging analyses revealed multiple mass lesions. As a result, the patient underwent an intraoperative frozen section biopsy of the brain lesion. The frozen section study showed numerous cells with amoeba-like appearances in the background of mixed inflammatory cells. Medications for free-living amoebic meningoencephalitis were administered. PCR assay demonstrated B. mandrillaris as the pathogenic amoeba. Unfortunately, the patient died 14 days after her admission. To our knowledge, this is the first report of B. mandrillaris meningoencephalitis in the Middle East and the first time we have captured the organism during a frozen-section study.

Pre-analytical Practices in the Molecular Diagnostic Tests, A Concise Review.

Molecular assays for detection of nucleic acids in biologic specimens are valuable diagnostic tools supporting clinical diagnoses and therapeutic decisions. Pre-analytical errors, which occur before or during processing of nucleic acid extraction, contribute a significant role in common errors that take place in molecular laboratories. Certain practices in specimen collection, transportation, and storage can affect the integrity of nucleic acids before analysis. Applying best practices in these steps, helps to minimize those errors and leads to better decisions in patient diagnosis and treatment. Widely acceptable recommendations, which are for optimal molecular assays associated with pre-analytic variables, are limited. In this article, we have reviewed most of the important issues in sample handling from bed to bench before starting molecular tests, which can be used in diagnostic as well as research laboratories. We have addressed the most important pre-analytical points in performing molecular analysis in fixed and unfixed solid tissues, whole blood, serum, plasma, as well as most of the body fluids including urine, fecal and bronchial samples, as well as prenatal diagnosis samples.

Online Assessment for Pathology Residents during the COVID-19 Pandemic: Report of an Experience.

BACKGROUND & OBJECTIVE: The world is facing COVID-19 pandemic, and medical education system and consequently the evaluation of students at different levels have been overshadowed. Residency students are among those affected. In the present study, we aim to share our experiences regarding holding exams for pathology residents before and during the pandemic. METHODS: This cross-sectional study was carried out in Tehran University of Medical Sciences. The online exam, which consisted of 30 multiple-choice questions, was designed and held in April 2020 to evaluate pathology residents. To assess the quality of the exam, indices such as the number of questions, highest and lowest scores, the average score, the standard deviation, the variance, Cronbach's alpha reliability coefficient, standard error of measurement, discrimination index, difficulty index, number/percentage of questions on three difficulty levels of easy, normal, hard were reviewed and analyzed. RESULTS AND DISCUSSION: The average score of the participants in the January exam which was held in the university's exam center was 16.23 (±5.03), while the average score in the online exam which was held after the onset of the pandemic was 20.86 (±5.18). The average discrimination indices in the first and second exams were 0.36 and 0.38, respectively, and the average difficulty indices in the first and second exams were 0.54 and 0.70, respectively. We found the administration of this online examination would be a positive experience. By sharing it, we hope to pave the way for similar ventures in the other departments.

Comparing Serum Level of Vitamin D3 in Patients With Isolated Coronary Artery Ectasia and Normal Coronary Artery Individuals.

BACKGROUND: Coronary artery ectasia (CAE) is identified as dilation of one or more segments of coronary arteries that reaches 1.5 times or more, compared with near segments that are normal. Several etiologies like atherosclerosis, autoimmune diseases and congenital anomalies have been proposed for this condition. Vitamin D deficiency activates the renin-angiotensin-aldosterone system, which affects the cardiovascular system. For these reasons, we investigated the serum level of vitamin D in patients with CAE compared with individuals with normal coronary arteries. METHODS: The study group included 30 patients (20 males and 10 females, mean age: 57 ± 9 years) with isolated CAE without any stenotic lesions, and the control group consisted of 60 age/gender matched subjects who had normal coronary angiograms (CAG) (40 males and 20 females, mean age: 57 ± 8 years). All participants underwent CAG at Tehran Heart Center between December 2015 and March 2016. Along with routine lab tests, vitamin D, serum albumin, calcium, phosphorus and alkaline phosphatase levels were analyzed and the unadjusted and adjusted effects of vitamin D on CAE were evaluated using logistic regression model. RESULTS: The median vitamin D level of the patients with CAE was lower than that of the control group (6.5 [3.0, 18.8] ng/mL vs. 17.7 [8.9, 27.1] ng/mL; P = 0.002). The logistic regression model showed that vitamin D deficiency was a predictor for the presence of CEA (P = 0.013). After adjustment for confounding variables, this association remained significant (P = 0.025). CONCLUSION: An association between CAE and vitamin D deficiency was found in our study.

Coronary Artery Disease Presentation and Its Association with Shortened Activated Partial Thromboplastin Time.

Background: Standard coagulation screening tests are important constituents of basic examinations in clinical laboratories. There is no clear evidence of a relation between the type of clinical presentation and coagulation parameters in patients with suspected coronary artery disease. Methods: This cross-sectional study included 539 patients who underwent coronary angiography in Tehran Heart Center between November 2012 and January 2013. Patients presented with ST-segment-elevation myocardial infarction (STEMI), non-STEMI, unstable angina, or stable angina. Prothrombin time (PT), international normalized ratio (INR), and activated partial thromboplastin time (APTT) were measured before angiography and compared between the clinical presentation groups. Results: The mean age of the patients was 59.156 ± 11.05 years, and 47.7% were male. STEMI was reported in 41(7.6%) patients, non-STEMI in 42 (7.8%), unstable angina in 304 (56.4%), and stable angina in 152 (28.2%). No difference in the mean PT and INR was found between the groups. The mean APTT was significantly lower among the patients presenting with STEMI and non-STEMI (26.58 ± 2.32 s in the STEMI, 26.85 ± 2.41 s in the non-STEMI, 27.64 ± 2.54 s in the unstable, and 27.93 ± 2.53 s in the stable angina groups, respectively, p value = 0.005). After adjustment, the association between the patients' presentations and APTT was significant (OR for 5 s increase in APTT = 1.661, 95% CI = 1.184 to 2.332; p value = 0.003). Conclusion: We observed that the patients who presented with STEMI had the lowest value of APTT, whereas those who presented with stable angina had the highest. The value of APTT in patients undergoing coronary angiography may have a potential to predict the extent and severity of coronary stenosis.

Association between elevated red blood cell distribution width and long-term mortality in acute pulmonary embolism

Background/aim: The prognostic value of the red cell distribution width (RDW) as a cost-effective and noninvasive test in acute pulmonary embolism (PE) is still unknown. We aimed to investigate the prognostic value of the admission RDW level in the long-term survival of PE patients. Materials and methods: In this registry-based, prospective cohort study, a total of 378 patients (mean age: 60.4 ± 17.11 years, 47.4% female) who presented with acute PE were enrolled. All the clinical data for each patient were obtained from our institutional PE registry. The follow-up was performed at a median time of 17 months. The primary endpoint was death at follow-up. Results: The mean RDW in study patients was 14.67 ± 2.13. The all-cause mortality rate during the follow-up was 15.6% (n = 59). After adjustment for potential confounders, the relationship between RDW and long-term mortality showed a trend of a significant level (hazard ratio: 1.109; 95% CI, 0.998−1.232; P = 0.053). We divided patients into 3 groups based on the European Society of Cardiology's classification. As we moved from the low risk to the higher risk categories, the mean RDW increased significantly (P = 0.037). Conclusion: It seems there may be an independent association between RDW at presentation and PE mortality within 17 months.

Complementary Diagnostic Value of Heart Type Fatty Acid-binding Protein in Early Detection of Acute Myocardial Infarction.

BACKGROUND: Heart-type fatty acid-binding protein (H-FABP) is a novel biomarker for myocardial injury. We compared the use of H-FABP with serum levels of cardiac troponin-T (cTnT) and creatine kinase-MB (CK-MB) in the diagnosis of patients suspicious to acute myocardial infarction (AMI). METHODS: From October 2013 to December 2014, 182 consecutive patients suspicious to acute coronary syndrome were enrolled in this study, who presented within the past 6 hours from the onset of symptoms. Venous blood samples were drawn at baseline to measure serum biochemistry, high-sensitive cardiac troponin T (hs-cTNT), creatine kinase-MB, and H-FABP, and the measurements were repeated after 8 hours. The patients were categorized into 3 groups based on the baseline and second measurements of cTnT and general characteristics, and changes of H-FABP levels were then compared between the groups. Sensitivity and specificity of H-FABP in predicting the presence of AMI was calculated. RESULTS: A total of 91 patients had AMI. Changes of H-FABP through time were also significantly different between the AMI and non-AMI patients (P < 0.001). A cutoff point of 7.15 for H-FABP could predict AMI with a sensitivity of 51.5%, specificity of 96.3%, and diagnostic accuracy of 68.3%. The area under the receiver operating characteristic curve for H-FABP at 8 hours was 79.4% (95% confidence interval: 73.0-85.9; P < 0.001). Positive predictive value and negative predictive value for H-FABP were 85% and 60%, respectively. CONCLUSIONS: H-FABP can be used as an additional cardiac biomarker in the diagnosis of AMI.

NQO1 C609T Polymorphism is Associated with Coronary Artery Disease in a Gender-Dependent Manner.

Findings on the association of NQO1 C609T polymorphism in the NQO1 gene and cardiovascular disease susceptibility are controversial. The objective of the current study was to examine the relationship between this polymorphism and the presence and severity of angiographically determined coronary artery disease (CAD). One-hundred and forty-five patients with newly diagnosed angiographically documented CAD (≥50 % luminal stenosis of any coronary vessel) as case group were compared to 139 controls (subjects with no luminal stenosis at coronary arteries). The presence of C609T polymorphism was analyzed using polymerase chain reaction-based restriction fragment length polymorphism. Among total population, those with combined CT/TT (T allele carrier) genotype showed a trend toward lower odds of CAD compared to those with CC (wild type) genotype, but it did not reach a statistically significant level (p = 0.061). When data were analyzed separately for men or women, CT + TT group as compared to CC genotype was associated with decreased odds of CAD in women (adjusted OR 0.4, 95 % CI 0.2-0.9; p = 0.043), but not in men (adjusted OR 0.8, 95 % CI 0.3-1.9; p = 0.612). The C609T polymorphism within NQO1 is independently associated with CAD in women, but no association was observed in whole study population or in men.

Stress analysis of fracture of atherosclerotic plaques: crack propagation modeling.

Traditionally, the degree of luminal obstruction has been used to assess the vulnerability of atherosclerotic plaques. However, recent studies have revealed that other factors such as plaque morphology, material properties of lesion components and blood pressure may contribute to the fracture of atherosclerotic plaques. The aim of this study was to investigate the mechanism of fracture of atherosclerotic plaques based on the mechanical stress distribution and fatigue analysis by means of numerical simulation. Realistic models of type V plaques were reconstructed based on histological images. Finite element method was used to determine mechanical stress distribution within the plaque. Assuming that crack propagation initiated at the sites of stress concentration, crack propagation due to pulsatile blood pressure was modeled. Results showed that crack propagation considerably changed the stress field within the plaque and in some cases led to initiation of secondary cracks. The lipid pool stiffness affected the location of crack formation and the rate and direction of crack propagation. Moreover, increasing the mean or pulse pressure decreased the number of cycles to rupture. It is suggested that crack propagation analysis can lead to a better recognition of factors involved in plaque rupture and more accurate determination of vulnerable plaques.

Fibroblast Growth Factor-1 vs. Fibroblast Growth Factor-2 in Ischemic Skin Flap Survival in a Rat Animal Model.

BACKGROUND: One of the main challenges in skin flap surgery is tissue ischemia and following necrosis. The present study compares the effects of fibroblast growth factors 1 and 2 on increasing cutaneous vasculature, improving ischemia, and preventing distal necrosis in ischemic skin flaps in rat model. METHODS: Thirty rats were allocated into 3 groups (n=10) and 2×8 cm dorsal random-pattern skin flaps were raised after four daily subdermal injections of normal saline (control group), fibroblast growth factor 1 (FGF-1 group; 2.5 µg/day), or fibroblast growth factor 2 (FGF-2 group; 2.5 µg/day) at designated flap areas. Skin flap viability and number of blood vessels were evaluated on day 10 after elevation by planimetric analysis and histological examination. RESULTS: It was shown that administrations of FGF-1 and FGF-2 significantly decreased the percentage of flap necrosis and improved the percentage of ischemic survivable area, compared to the control samples. Meanwhile, the differences between these factors in terms of preventing skin flap necrosis and improving ischemia were also significant. The number of visible blood vessel sections was also higher in FGF-1 and FGF-2 groups than in the control group. CONCLUSION: These findings suggest that, while FGF-2 is still much more potent than FGF-1, treatment with either of these drugs could be very effective in increasing the survival of surgical flaps at risk (length to width ratio>3) in situations that other therapeutic options could not be considered.

Relationship between calculated total antioxidant status and atherosclerotic coronary artery disease.

OBJECTIVE: Antioxidants play a major role in the cellular protection cascade against oxidative damage. Oxidative stress has been linked to the pathogenesis of coronary atherosclerosis. Our aim was to evaluate the association between calculated serum total antioxidant status (cTAS) and the presence and severity of coronary artery disease (CAD). METHODS: One hundred and seventy-four patients with angiographically documented significant (≥50%) luminal stenosis (n=123) or with minimal (<50%) luminal stenosis (n=51) in at least one coronary artery or major branch segment in the epicardial coronary tree were categorized as CAD+ group; 88 patients with no luminal stenosis were considered as the control group. The level of cTAS (mmol/L) was evaluated using the following equation: (0.63×albumin concentration)+(1.02×uric acid concentration)+(1.53×bilirubin concentration). RESULTS: In univariate analyses, mean levels of cTAS, uric acid, and creatinine were significantly higher in CAD+ group than in controls. However, adjusted cTAS level was not found to be a CAD predictor in the total population [odds ratio (OR)=1.20; 95% confidence interval (CI): 0.81-1.76; p=0.364] or in men (OR=1.25; 95% CI: 0.73-2.12; p=0.420) and women (OR=1.20; 95% CI: 0.66-2.19; p=0.553). A weak but statistically significant correlation was found between cTAS and Gensini score (Spearman's ρ=0.16, p=0.015). CONCLUSION: In patients with suspicious CAD, the level of cTAS was not found to be an independent predictor for the presence of CAD. Further studies with larger sample size are required to confirm the results.

Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome.

Mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the TRIM37 gene with severe growth retardation and multiple organ involvement. Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. A 37-year-old female patient presented with symptoms of dyspnea on exertion and shortness of breath. She had severe growth failure and craniofacial dysmorphic feature. Cardiac evaluation showed constrictive pericarditis, moderate pulmonary hypertension, and mild pericardial effusion. The patient underwent pericardiectomy, but her thick and adhesive pericardium forced the surgeon to do partial pericardiotomy. Our report underlines the importance of attention to probable Mulibrey nanism when confronting patients with primary amenorrhea, growth retardation, and dysmorphic features. Early cardiac examination is of great significance in the course of the disorder, and patients must be pericardiectomized to relieve the symptoms and increase survival.

Takayasu's Arteritis Presenting with Headache and Peripheral Facial Palsy: A Case Report.

Takayasu's arteritis (TA) is a rare case of granulomatous arteritis which mainly involves the aorta and its large branches. Although arterial hypertension is the most common feature of the disease in both adults and children, patients with TA may present with numerous clinical manifestations. Our patient was a 45-year-old woman, known to have hypertension from 3 years earlier following assessments made for severe headache. One year after the diagnosis of hypertension, she developed a left-sided lower motor neuron facial palsy, which was treated with oral corticosteroids (Prednisolone). Notably, the patient's headache was relieved after she took corticosteroid therapy. Transthoracic echocardiography revealed severe aortic insufficiency and aneurysmal changes in the ascending aorta, and she was referred to our center for further evaluation. In multi-slice computed-tomography angiography, significant long stenosis of the left subclavian artery was seen and the diameter of the ascending aorta was 50 mm. The patient underwent the Bentall operation. The pathologic examination of the aortic wall specimen was compatible with giant cell aortitis and more in favor of TA with the ascending aortic aneurysm. At 6months' follow-up, the patient was in good condition and had almost recovered from facial palsy.