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Statement of the Problem: Chemotherapy-induced mucositis is the most common complication during cancer treatment. This complication can lead to pain, increased risk of infection and malnutrition. Therefore, it is important to find a solution to reduce the severity and duration of side effects. Purpose: This study aimed to assess the efficacy of Mucosamin spray as an adjunct for prevention of oral mucositis in children under chemotherapy. Materials and Method: This parallel-design clinical trial evaluated 48 patients aged 5 to 15 years with leukemia and lymphoma presenting to the Hematology Department of Mofid and Mahak Hospitals. The patients were randomly divided into two groups (n=24). Before starting chemotherapy, all patients received oral hygiene instructions (toothbrushing without flossing). Patients in both groups were requested to use a mouthwash composed of nystatin, aluminum-magnesium hydroxide suspension (aluminum MgS), and diphenhydramine for 1 min every morning on a daily basis starting the day before treatment. Patients in the intervention group were also requested to spray their entire oral mucosa with Mucosamin spray 3 times a day in addition to using the mouthwash. Patients were requested to refrain from eating and drinking for 1h after spraying. The patients were clinically examined by a senior dental student once every other day for 20 days regarding the occurrence, severity, and duration of oral mucositis. Data were analyzed using the Chi-square and Mann-Whitney tests, Kaplan-Meier survival analysis, and log rank test. Results: No significant difference was noted between the two groups in the incidence, severity, or time of development of mucositis (p> 0.05). The 7-day non-recovery percentage was 72.7% (SE= 13.4) and 25.0% (SE= 15.3) in the control and test groups, respectively, indicating shorter duration (faster healing) of mucositis in the intervention group (p= 0.01). Conclusion: Within the limitations of this study, it seems that prophylactic application of Mucosamin spray can shorten the course of oral mucositis, in case of its occurrence. [ABSTRACT FROM AUTHOR]

Patients with very early-onset inflammatory bowel disease (VEO-IBD) may present because of underlying monogenic inborn errors of immunity (IEI). Strong differences have been observed in the causes of monogenic IBD among ethnic populations. This multicenter study was carried out on 16 Iranian patients with VEO-IBD. We reviewed clinical and basic immunologic evaluation including flow cytometry and immunoglobulin levels. All patients underwent clinical whole exome sequencing (WES). Sixteen patients (8 females and 8 males) with a median age of 43.5 months were enrolled. The median age at the onset of symptoms was 4 months. Most patients (12, 75%) had consanguineous parents. Chronic non-bloody diarrhea (13, 81.3%) and perianal diseases including perianal abscess (6, 37.5%), anal fissure (6, 37.5%), or anal fistula (2, 12.5%) were the most common manifestations. WES identified a spectrum of genetic variants in 13 patients (81.3%): IL10RB (6, 37.5%), MVK (3, 18.8%), and CASP8, SLC35C1, G6PC3, and IKBKB in 1 patient, respectively. In 3 patients (18.7%), no variant was identified. Flow cytometry identified a spectrum of abnormalities that helped to assess the evidence of genetic diagnosis. At the end of the survey, 3 (18.8%) patients were deceased. This high rate of monogenic defects with a broad spectrum of genes reiterates the importance of investigating IEI in patients with infantile-onset IBD. Patients with very early-onset inflammatory bowel disease (VEO-IBD) may present because of underlying monogenic inborn errors of immunity (IEI). Strong differences have been observed in the causes of monogenic IBD among ethnic populations. The high rate of monogenic defects with a broad spectrum of genes reiterates the importance of investigating IEI in patients with infantile-onset IBD. Graphical Abstract [ABSTRACT FROM AUTHOR]

Background: Defective Cernunnos gene in nonhomologous end‐joining (NHEJ) pathway of the DNA repair is responsible for radiosensitive severe combined immunodeficiency (SCID). Herein, presented a new patient with Cernunnos deficiency and summarized the clinical, immunological, and molecular features of reported patients in the literature. Case: The patient was a 6‐month‐old female born to consanguineous parents. She presented with long‐lasting fever, diarrhea, poor feeding, and restlessness. She had suffered from recurrent fever of unknown origin and multiple episodes of oral candidiasis. In the physical examination, microcephaly, failure to thrive, oral candidiasis, pustular rash on fingers, and perianal ulcers, but no dysmorphic feature were observed. The immunologic workup revealed lymphopenia, neutropenia, normocytic anemia, low T‐ but normal B‐ and natural killer (NK)‐ cells, low immunoglobulin (Ig)G, and normal IgA, IgM, and IgE. The T‐cell receptor excision circle (TREC) was low and the lymphocyte transformation test (LTT) was abnormal to mitogens and antigens. She was diagnosed with T− B+ NK+ SCID and improved by intravenous immunoglobulin along with antimicrobials. A homozygous splice site variant, c.390 + 1G > T, at the intron 3 of the NHEJ1, was identified and the diagnosis of Cernunnos deficiency was established. However, while a candidate for hematopoietic stem cell transplantation, she developed sepsis and died at 11 months of age. Conclusions: Cernunnos deficiency should be considered as a differential diagnosis in patients with microcephaly, growth retardation, recurrent infections, T‐cell defects, and hypogammaglobulinemia. The normal B‐cell level in the index patient is an unexpected finding in Cernunnos deficiency which requires further evaluation. [ABSTRACT FROM AUTHOR]

LPS-responsive beige-like anchor protein (LRBA) deficiency is a monogenic primary immunodeficiency characterized by a heterogeneous spectrum of clinical manifestations associated with immune dysregulation. In this study, we reported clinical, immunologic, and genetic evaluation of two Iranian patients from unrelated families, both suffering from recurrent respiratory tract infections, failure to thrive, interstitial lung disease, autoimmune cytopenia, and hypogammaglobulinemia. Pulmonary abscess in one patient and persistent enteropathy in another were also observed. Further investigations revealed causative mutations in the exon (c.2166_2766del) and intron (c.4730–3 T > G) of the LRBA gene. These results may provide further elucidation of the clinical phenotypes and responsible genetic factors of LRBA deficiency. [ABSTRACT FROM AUTHOR]

Hematopoietic stem cell transplantation is a potentially life-saving therapy under certain conditions. Hypersensitivity reaction to chemotherapeutic drugs may interfere with this treatment. Griscelli syndrome type 2 is a rare autosomal recessive disease characterized by hypopigmentation of skin and hair, causing silver gray hair; this disease may develop a fatal condition called hemophagocytic lymphohistiocytosi. The main curative treatment for hemophagocytic lymphohistiocytosi is hematopoietic stem cell transplantation. Melphalan is an important drug in hematopoietic stem cell transplantation preparation regimen. This drug is only stable for 60 minutes following reconstitution with normal saline. There is a recommended 12- to 20-step desensitization protocol for moderate to severe hypersensitivity reaction to chemotherapeutic drugs. However, due to the short term stability of melphalan, this protocol cannot be employed in desensitization. In this case report, we presented a novel protocol for rapid desensitization of melphalan in a 5-year-old boy with immediate, moderate to severe hypersensitivity reaction, during hematopoietic stem cell transplantation. To obtain 50 mg total melphalan, we prepared solutions of drug in two bags; one with 12.5mg in 35 cc normal saline, and other with 25 mg in 35 cc normal saline. Each solution was infused during 60 minutes by incremental infusion rate, and the total of 50 mg melphalan was successfully infused. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a potentially life-threatening syndrome, which reflects a serious hypersensitivity reaction to drugs, presenting by generalized skin rash, fever, eosinophilia, atypical lymphocytosis, and internal organ involvement. Herein a 21-month old male infant with DRESS and Encephalopathy syndrome is presented who complicated after phenobarbital usage that persisted due to phenytoin cream usage. The case received phenobarbital after a seizure disorder presented as "status epilepticus". He developed drug eruption, fever, hepatosplenomegaly, increased liver enzymes, encephalopathy and progressive loss of consciousness with extensive hyperintense white matter lesions in brain MRI. After discontinuation of phenobarbital and phenytoin, all symptoms were resolved, while brain MRI became normal after two months. To our best knowledge, this is the first reported case that developed leukoencephalopathy along with DRESS syndrome. [ABSTRACT FROM AUTHOR]