Arterial stroke in a child with Seckel syndrome with a pattern of non-moyamoya vasculopathy.

Seckel syndrome is a rare autosomal recessive disorder, characterized by growth retardation and multiple anomalies associated with CNS vasculopathy. We describe a child with Seckel syndrome who developed a stroke due to non-moyamoya vasculopathy.

Moyamoya Disease in a Child With Fanconi Anemia: An Anomaly or a Complication.

Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with congenital anomalies and a predisposition to cancer. We report the case of a 9-year-old boy with FA who developed an abrupt onset of hemiplegia and dysarthria. The diagnosis of moyamoya disease (MMD) was suggested by magnetic resonance angiography (MRA) which demonstrated severe stenosis in the right internal carotid artery along with collateral vessel formation in the right basal ganglia. It is questioned whether the moyamoya pattern in this case is part of congenital malformations associated with FA or is the result of recurrent bleedings around the carotid siphon.

The First Iranian Case of Unstable Hemoglobin Santa Ana.

In this report, we describe a 6-year-old girl with a medical history of pallor, mild icterus, anemia, blood transfusion and abnormal hemoglobin variant analysis on capillary electrophoresis. She was referred for further analysis. DNA sequencing of the proband revealed a de novo mutation in Codon 88 (CTG > CCG) of the ß-globin gene (HBB: c.266T > C) in a heterozygous state compatible with hemoglobin Santa Ana, an unstable hemoglobin. This is the first case of Hb Santa Ana from Iran associated with moderate to severe anemia who underwent splenectomy with clinical improvement.

Extraskeletal conventional chondrosarcoma of genitalia in a child- An unusual pathology for a rare tumor.

INTRODUCTION AND IMPORTANCE: Chondrosarcoma is a rare malignant tumor considered as the second common sarcoma of bone following osteosarcoma. Less than 5 % of chondrosarcomas occur in children. Conventional chondrosarcoma is the most common type observed as skeletal tumors. Extraskeletal chondrosarcomas account for about 1 % of chondrosarcomas. They are almost always of myxoid or mesenchymal subtypes. CASE PRESENTATION: A 4-year-old girl was referred with pain and palpable mass in the labia majora since 2 years of age for which she had undergone twice biopsies, reported as soft tissue enchondroma. At this time, complete excision of the lesion with negative margins was carried out. The pathology was in favor of extraskeletal chondrosarcoma of conventional type without any evidence of bone involvement. CLINICAL DISCUSSION: Our case was a very young child with extraskeletal conventional chondrosarcoma, not reported yet in the literature. The vast majority of extraskeletal myxoid chondrosarcomas arise in the soft tissues of the extremities. The lesion in this case was located within the subcutaneous tissue of the labia majora; however, the tumor was not compatible with myxoid chondrosarcoma. Mesenchymal chondrosarcoma is another type of extraskeletal chondrosarcoma but the histopathologic patterns observed in our patient were not compatible even with the mesenchymal chondrosarcoma. CONCLUSION: We present a unique case of extraskeletal chondrosarcoma in a child with conventional subtype which has not been reported in the literature. In addition, the lesion was assumed to arise from a previous soft tissue enchondroma of the labia majora since infancy which makes the case distinctive.

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.

BACKGROUND: Increasing evidence links genetic defects affecting actin-regulatory proteins to diseases with severe autoimmunity and autoinflammation, yet the underlying molecular mechanisms are poorly understood. Dedicator of cytokinesis 11 (DOCK11) activates the small Rho guanosine triphosphatase (GTPase) cell division cycle 42 (CDC42), a central regulator of actin cytoskeleton dynamics. The role of DOCK11 in human immune-cell function and disease remains unknown. METHODS: We conducted genetic, immunologic, and molecular assays in four patients from four unrelated families who presented with infections, early-onset severe immune dysregulation, normocytic anemia of variable severity associated with anisopoikilocytosis, and developmental delay. Functional assays were performed in patient-derived cells, as well as in mouse and zebrafish models. RESULTS: We identified rare, X-linked germline mutations in DOCK11 in the patients, leading to a loss of protein expression in two patients and impaired CDC42 activation in all four patients. Patient-derived T cells did not form filopodia and showed abnormal migration. In addition, the patient-derived T cells, as well as the T cells from Dock11-knockout mice, showed overt activation and production of proinflammatory cytokines that were associated with an increased degree of nuclear translocation of nuclear factor of activated T cell 1 (NFATc1). Anemia and aberrant erythrocyte morphologic features were recapitulated in a newly generated dock11-knockout zebrafish model, and anemia was amenable to rescue on ectopic expression of constitutively active CDC42. CONCLUSIONS: Germline hemizygous loss-of-function mutations affecting the actin regulator DOCK11 were shown to cause a previously unknown inborn error of hematopoiesis and immunity characterized by severe immune dysregulation and systemic inflammation, recurrent infections, and anemia. (Funded by the European Research Council and others.).

Clinical and genetic characteristics of hemoglobin H disease in Iran.

Hemoglobin H (Hb H) disease is a subtype of α-thalassemia caused by deletional and/or non-deletional mutations in three alpha-globin genes in which the various genotypes determine the disease severity. This study was aimed to investigate the frequency of alpha gene mutations and genotypes and their correlation with hematological and clinical characteristics in Iran. Among 202 patients diagnosed with Hb H disease through a national study in Iran according to standard methods, we had access to the hematologic and clinical findings and genetic data of 101 patients in whom genetic study was performed. Genomic DNA from peripheral blood was extracted and analyzed for identification of α-globin gene mutations using Multiplex Gap Polymerase Chain Reaction, Reverse Hybridization Assay, and finally Direct DNA Sequencing method. Twenty-one different mutations and thirty genotypes were detected in 101 patients with Hb H disease. In total, 39 patients (38.6%) were deletional and 62 patients (61.4%) were non-deletional type of the disease. The --MED mutation was highly prevalent in almost half of the patients (56.4%). Among various genotypes, -MED/-a3.7 (29.7%) and -α20.5/-α5NT (6.9%) were the most prevalent genotypes found in the studied group. Patients with non-deletional type presented with more severe hematological and clinical findings. Hb H percentage and serum ferritin levels were significantly higher in non-deletional patients in comparison to the deletional group (p < 0.05). 12 (11.9%) and 40 (39.6%) out of 101 patients were on regular and occasional transfusions, respectively. 83% of those with regular transfusion belonged to the non-deletional group. Among transfusion-dependent patients, -MED/αCSα and α20.5/-α5NT were the most common genotypes. In this study, two patients with -α20.5/αCSα and -MED/α-5NT genotypes experienced thrombotic events. This study indicated that although non-deletional genotypes of Hb H disease were responsible for more clinical severity of the disease, due to the presence of severe phenotypes even in deletional types, no definite correlation was found between genotype and phenotype.

The Micro-Shear bond strength of different cements to commercially pure titanium.

BACKGROUND: The most appropriate luting agent for attaching the prefabricated Ti-based insert of hybrid abutments to its ceramic component has not yet been determined. This study was done aimed at examining the micro-shear bond strength (µSBS) of different cements to commercially pure titanium (Cp Ti). MATERIAL AND METHODS: A total of 100 milled cubes of Cp Ti was airborne-particle abraded using 250 µm aluminum oxide particles. Specimens were then divided into 5 groups (n=20) according to the type of resin cement used: (1) Panavia F.2, (2) Rely X U200, (3) Panavia SA LUTING Plus, (4) GC Fuji I, and (5) GC FujiCEM 2. After 24h storage, half of the samples were subjected to 5000 cycles of thermal aging. Next, the bonded samples were tested in the micro-shear mode. Data (MPa) were analyzed using a two-way ANOVA and the post hoc Tukey test (α=0.05). After debonding, each sample was examined for the failure mode classification. RESULTS: The highest µSBS value in the study cements was obtained for Panavia F.2 cement (P<0.001) with no significant difference with Rely X U200 (P=0.07). The µSBS values of both GI-based cements were significantly lower than those of resin cements. Thermal aging decreased the µSBS values of all groups (P=0.003) significantly. The mainly occurred failure mode in all groups was the adhesive feature. CONCLUSIONS: Resin cements demonstrated acceptable bonding to Cp Ti, yet Gl-based cements did not. From among the cements examined, Panavia F.2 can be considered as the best option for bonding to Ti. Key words:Bond strength, Glass ionomer, Hybride abutment, Resin cement, Titanium.

Secondary ALL after Successful Treatment of Ewing's Sarcoma: A Case Report.

Treatment with intensification of chemotherapy using alkylating agents and Topoisomerase II inhibitors and radiotherapy has improved the outcome of patients with solid tumors such as Ewing's sarcoma. However, there are several reports of secondary malignancy following treatment of these tumors. In this article, we describe a 12 years old girl with ALL who had Ewing's sarcoma when she was 8 years old and underwent successful treatment but after two and half years at 12 years old, she came back with pallor and muscular pain.

Congenital Pleomorphic Adenoma in a SubmandibularGland of a Newborn- A Case Report.

INTRODUCTION: Pleomorphic adenoma is a rare benign salivary gland neoplasm in children, which can be treated by simple excision. This tumor is rarely included in the differential diagnosis of solid submandibular masses in children. In the neonates, congenital pleomorphic adenoma usually presents in the nasopharynx. Surgical excision is the treatment of choice and recurrence is not expected. We report what appears to be the first case of congenital pleomorphic adenoma in the submandibular region in a one-day-old newborn. CASE REPORT: The case of a one-day-old term baby is presented with a 5x2 cm left submandibualr mass with extension to the oral cavity. The mass was hard and non-mobile. During Ultrasonography and Contrast-enhanced Computed Tomography (CT) scan, the mass was solid with a heterogeneous internal structure. The tumor was completely excised and proved to be a pleomorphic adenoma during histopathological examination. CONCLUSION: Congenital pleomorphic adenoma rarely occurs in the nasopharynx and is treated by surgical excision. Our case is unique because the congenital pleomorphic adenoma is located in the submandibular gland of a newborn.

The Influence of Dental Shade Guides and Experience on the Accuracy of Shade Matching.

AIM: There is limited and inconsistent information on some factors affecting visual shade selection. The aim of this study was to evaluate the influence of shade guide type and professional experience on shade-matching results. MATERIALS AND METHODS: Thirty Dental students (DS), 30 General dentists (GDs) and 30 Dental specialists (S) participated in this study. The participants were asked to match six target tabs using two dental shade guides: Vitapan Classical (VC) and Vitapan 3D-Master (3D). An intraoral spectrophotometer was used for color measurement of target tabs and selected tabs. The color difference (ΔE) values between the target tab and selected tab were calculated. Data were analyzed using analysis of variance (ANOVA) and paired f-test (α = 0.05). Results of the first five best matches for each target tab were expressed as ΔE1 to ΔE5. Differences in the mean values of ΔE1 to ΔE5 between VC and 3D were compared using descriptive statistics. RESULTS: There were no significant differences among the three participating groups in ΔE values when the 3D was used (p = 0.389). However, significant differences were found with VC (p < 0.001). The ΔE values achieved from the 3D were significantly lower than those from VC for DS and S (p = 0.001 and p < 0.001, respectively). For each of the first five best matches, the mean ΔE values from the 3D were smaller than the corresponding values of VC. CONCLUSION: The type of dental shade guide affected the shade-matching results. The level of experience was not found to be an influential factor in shade matching when 3D-Master shade guide was used. CLINICAL SIGNIFICANCE: Compared with Vitapan Classical shade guide, use of the Vitapan 3D-Master shade guide improves shade-matching results. KEYWORDS: Color, Experience, Gender, Selection, Shade, Visual. How to cite this article: Nakhaei M, Ghanbarzadeh J, Amirinejad S, Alavi S, Rajatihaghi H. The Influence of Dental Shade Guides and Experience on the Accuracy of Shade Matching. J Contemp Dent Pract 2016;17(1):22-26. Source of support: This study was supported by a grant (No. 920903) from the Vice Chancellor for Research of Mashhad University of Medical Sciences. The results presented here are based on undergraduate thesis (No. 2686) submitted to Mashhad School of Dentistry and Dental Research Center. CONFLICT OF INTEREST: None.

Hereditary Spherocytosis Unmasked by Human Parvovirus B19 Induced Aplastic Crisis in a Family.

Human parvovirus (HPV) B19 induced aplastic crisis in a family leading to the diagnosis of hereditary spherocytosis (HS) is a very rare condition being barely reported in the literature. We herein report a 4-year-old girl, her brother, and their mother who all presented with progressive pallor and jaundice after a febrile illness. The HPV B19 was diagnosed using polymerase chain reaction (PCR) and positive serology for specific anti-HPV B19 IgM. They were further diagnosed with having HS. The clinical importance of this report is that in the case of an abrupt onset of unexplained severe anemia and jaundice, one should consider underlying hemolytic anemias mostly hereditary spherocytosis complicated by HPV B19 aplastic crisis. Herein, we report the occurrence of this condition, simultaneously in three members of a family. The distinguished feature of this report is that all affected family members developed some degrees of transient pancytopenia, not only anemia, all simultaneously in the course of their disease.

Frequency of ITPA gene polymorphisms in Iranian patients with acute lymphoblastic leukemia and prediction of its myelosuppressive effects.

6-Mercaptopurine (6-MP) plays an important role in treatment of childhood acute lymphoblastic leukemia (ALL). Inosine triphosphate pyrophosphohydrolase (ITPA) is an enzyme involved in 6-MP metabolic pathway that convert the inosine triphosphate (ITP) to inosine monophosphate (IMP) and prevents the accumulation of the toxic metabolite ITP. Our objective was to evaluate the ITPA 94C>A, IVS2+21A>C polymorphisms in patients with ALL treated with 6-MP and prediction of its clinical outcomes. Our study population consisted of 70 patients diagnosed with ALL in the Division of Hematology-Oncology of Tehran Mofid Hospital. PCR was carried out to amplify exon 2, exon 3, intron 2, and intron 3 of ITPA gene then, all the amplified fragments were subjected to directional sequencing and then association between genotype and 6-MP toxicity was studied. In this study two exonic variants including 94C>A and 138G>A showed a prevalence of 8.5% and 36.4%, respectively. Two intronic variants, IVS2+21A>C and IVS3+101G>A were found in 13.5% and 7% of the samples, respectively. The rate of myelosuppression in the presence of mutant homozygote and heterozygous alleles (94C>A, 138G>A, IVS2+21A>C and IVS3+101G>A) was higher than that of wild type alleles during the use of 6-MP. Hepatotoxicity in patients with mutant homozygous and heterozygous 94C>A and IVS3+101G>A during the treatment 6-MP was higher than before treatment with 6-MP. Our results showed that patients with aberrant ITPase genotype (mutant homozygous or heterozygous), more likely to be myelosuppressed and show liver toxicity after treatment with 6-MP. Our results suggest that pre-therapeutic screening of patients for ITPA 94C>A, IVS2+21A>C and IVS3+101G>A can help in minimizing the adverse effects of 6-MP in ALL patients.

Pyoderma Vegetans: A Case Report in a Child Suspected to Primary Immunodeficiency and Review of the Literature.

Pyoderma vegetans (PV) is a rare inflammatory disorder characterized by vegetating pustules and plaques affecting the skin and mucosal membranes. It is believed that this entity is mostly associated with inflammatory bowel disease (IBD), chronic malnutrition, human immunodeficiency virus (HIV), malignancies, and other immunocompromised states. Pyoderma vegetans occurs more commonly in young and middle-aged adults. There is no sex predilection for this entity. The lesions could heal spontaneously, but usually recur and become chronic. Our patient was an 11-year-old girl suspected to have primary combined immunodeficiency complicated by chronic recurrent vegetating pustular lesions on the face and postauricular area since one year of age. The histological features of the lesions were consistent with pyoderma vegetans. This is the first case of PV beginning from early infancy in the setting of primary immunodeficiency and in an unusual location.

Primary Ewing's Sarcoma of the temporal bone in an infant.

Introduction : Ewing's sarcoma is the second most common primary malignant tumor of bone found in children after Osteosarcoma. It accounts for 4-9% of primary malignant bone tumors and it affects bones of the skull or face in only 1-4% of cases. Hence it rarely affects the head and neck. Subject and Method : In this case report, we describe a case of primary Ewing's sarcoma occurring in the temporal bone. The tumor was surgically excised, and the patient underwent chemotherapy for ten months. Results : Neither recurrence nor distant metastasis was noted in these 10 months after surgery but about 18 months after surgery our patient was expired. Conclusion : Although the prognosis of Ewing's sarcoma is generally poor because of early metastasis to the lungs and to other bones, a review of the article suggested that Ewing's sarcoma occurring in the skull can often be successfully managed by intensive therapy with radical excision and chemotherapy. This result was supported by the case reported here.

Effectiveness of silica-lasing method on the bond strength of composite resin repair to Ni-Cr alloy.

PURPOSE: The aim of this study was to evaluate the effectiveness of silica-lasing method for improving the composite resin repair of metal ceramic restorations. MATERIALS AND METHODS: Sixty Ni-Cr cylindrical specimens were fabricated. The bonding surface of all specimens was airborne-particle abraded using 50 µm aluminum oxide particles. Specimens were divided into six groups that received the following surface treatments: group 1-airborne-particle abrasion alone (AA); group 2-Nd:YAG laser irradiation (LA); group 3-silica coating (Si-CO); group 4-silica-lasing (metal surface was coated with slurry of opaque porcelain and irradiated by Nd:YAG laser) (Si-LA); group 5-silica-lasing plus etching with HF acid (Si-LA-HF); group 6-CoJet sand lased (CJ-LA). Composite resin was applied on metal surfaces. Specimens were thermocycled and tested in shear mode in a universal testing machine. The shear bond strength values were analyzed using ANOVA and Tukey's tests (α = 0.05). The mode of failure was determined, and two specimens in each group were examined by scanning electron microscopy and wavelength dispersive X-ray spectroscopy. RESULTS: Si-CO showed significantly higher shear bond strength in comparison to other groups (p < 0.001). The shear bond strength values of the LA group were significantly higher than those of the AA group (p < 0.05). No significant difference was found among lased groups (LA, Si-LA, Si-LA-HF, CJ-LA; p > 0.05). The failure mode was 100% adhesive for AA, Si-LA, Si-LA-HF, and CJ-LA. LA and Si-CO groups showed 37.5% and 87.5% cohesive failure, respectively. CONCLUSION: Silica coating of Ni-Cr alloy resulted in higher shear bond strength than those of other surface treatments.

Optimal method for early detection of cardiac disorders in thalassemia major patients: magnetic resonance imaging or echocardiography?

BACKGROUND: Heart failure resulting from myocardial iron deposition is the most important cause of death in ß-thalassemia major (TM) patients. Cardiac T2*magnetic resonance imaging (MRI), echocardiography, and serum ferritin level serve as diagnostic methods for detecting myocardial iron overload. In this study, we aimed to evaluate the relationship between the above-mentioned methods. METHODS: T2*MRI and echocardiographic measurement of left ventricular (LV) systolic and diastolic function were performed in 63 patients. Serum ferritin level was measured. The relationships between all assessments were evaluated. RESULTS: There were 40 women and 23 men with a mean age of 23.7±5.1 years (range, 15-35 years). There was no statistically significant correlation between serum ferritin level and LV systolic and diastolic function (P=0.994 and P=0.475, respectively). T2*MRI results had a significant correlation with ferritin level; 63.6% of patients with serum ferritin level >2,000 ng/mL had abnormal cardiac MRI, while none of the patients with ferritin level <1,000 ng/mL had abnormal cardiac MRI (P=0.001). There was no significant correlation between MRI findings and LV systolic function (P=1.00). However, we detected a significant difference between LV diastolic function and cardiac siderosis (P=0.03). CONCLUSION: MRI findings are a good predictor of future cardiac dysfunction, even in asymptomatic TM patients; however, diastolic dysfunction may happen prior to cardiac siderosis in some patients, and echocardiography is able to diagnose this diastolic dysfunction while T2*MRI shows normal findings.

The immunophenotype of bone marrow lymphocytes in children with immune thrombocytopenic purpura.

PURPOSE: Primary immune thrombocytopenic purpura (ITP), caused by immune system dysfunction, is recognized as the leading cause of thrombocytopenia in pediatric population. Nonetheless, inadequate studies have been performed on bone marrow immunophenotyping of children with ITP. In this study, we aimed to investigate the immunophenotype of bone marrow lymphocytes in these children. PATIENTS AND METHODS: Between 2008 and 2012, 35 children with ITP and 26 age and sex matched healthy controls were recruited. All participants underwent bone marrow aspiration. Appropriate B-cell, T-cell, and myeloid lineage monoclonal antibodies were employed to determine the immunophenotype of these patients. RESULTS: CD10, CD19, and CD20, all indicative of premature B-cell markers, were significantly greater in children with ITP. CD22, mainly expressed on mature B cells was slightly, but not significantly reduced in the patients' group (P = .42). On the other hand, T cell markers including CD2, CD3, CD5, and CD7 were underexpressed. CD33, a specific marker for myeloid lineage, was underexpressed in the patients' group (5.6 ± 4.7 vs. 12.9 ± 7.3, P < .001). Noteworthy, the immunophenotype did not significantly differ between acute and persistent cases. CONCLUSION: Overall, a phenotype characterized by increased pre-B-cell markers along with decreased T cell immunophenotypic markers was observed in bone marrow lymphocytes of children with ITP in the present study. Further larger scale studies are recommended to confirm our findings, as precise mapping of the immunophenotype of lymphocytes in these patients would pave the road to improved diagnosis and treatment.

Efficacy and safety of deferasirox in ß-thalassemia major patients in Iran: a prospective study from a single referral center in Iran.

INTRODUCTION: Herein, the results of a prospective study evaluating the efficacy and safety of treatment with deferasirox are studied in iron-overloaded patients with ß-thalassemia major during an 18-month trial. METHODS: Thirty patients who were previously chelated with deferoxamine with/without deferiprone, and fulfilled the inclusion criteria were recruited. Patients received an initial dose of 10-30 mg/kg/day. Liver and cardiac MRI T2* were evaluated before and after the trial. In addition, serum ferritin level was assessed every 3 months. Primary endpoint was regarded as significant improvement in the severity of liver and cardiac iron overload in severe and moderate cases, in addition to improvement or maintenance of the grade of severity in patients with mild iron overload or normal iron accumulation. Therapy was considered effective if primary endpoint was met in >50%. RESULTS: Liver MRI values improved significantly (P = .002), achieving a 73.33% success rate. A successful outcome regarding myocardial iron overload was observed in 80%. Finally, an overall of 66.66% of patients met the success criteria. Secondary endpoint, regarded as safety and tolerability was reached by 93.33%. The most common adverse events were skin rash and gastrointestinal disturbance. A dose between 30 and 40 mg/kg/day, tailored to each patient was considered the optimal dose. CONCLUSION: Deferasirox proved as an efficient and safe chelating agent in our patients, specifically in mild to moderate iron overloaded patients.