Biotinidase deficiency is a disorder inherited autosomal recessively showing evidence of hearing loss and optic atrophy in addition to seizures, hypotonia, and ataxia. In the present study, a 2-year-old boy with Biotinidase deficiency is presented in which clinical symptoms have been reported with auditory neuropathy/auditory dyssynchrony (AN/AD). In this case, transient-evoked otoacoustic emissions showed bilaterally normal responses representing normal function of outer hair cells. In contrast, acoustic reflex test showed absent reflexes bilaterally, and visual reinforcement audiometry and auditory brainstem responses indicated severe to profound hearing loss in both ears. These results suggest AN/AD in patients with Biotinidase deficiency.
Ataxia ; Audiometry ; Biotinidase Deficiency* ; Biotinidase* ; Child, Preschool ; Ear ; Evoked Potentials, Auditory, Brain Stem ; Hair ; Hearing Loss ; Humans ; Male ; Muscle Hypotonia ; Optic Atrophy ; Reflex, Abnormal ; Reflex, Acoustic ; Seizures

BACKGROUND: The numerous side effects and chemo-resistance of conventional chemical drugs in the treatment of malignancies have led to consideration of the anti-cancer properties of natural products. In the present study, we aimed to explore the apoptotic effect of two natural components, resveratrol and prednisolone, on the T acute lymphoblastic leukemia (ALL) cell line, CCRF-CEM. Our findings suggested the incorporation of these natural agents into drug regimens to treat patients with ALL. METHODS: In this study, we investigated the effect of different doses of resveratrol (15, 50 and 100 µM) and prednisolone (700 µM) on BAX (apoptosis promoter) and BCL2 (apoptosis inhibitor) expressions following 24 and 48 hours of treatment on CCRF-CEM cells, using real-time PCR, and on apoptosis induction using flow cytometry. RESULTS: The results showed a time- and dose-dependent increase in BAX expression and a decrease in BCL2 expression. Apoptosis was induced in CCRF-CEM cells treated with resveratrol and prednisolone for 24 and 48 hours. Combined resveratrol and prednisolone treatment showed synergistic effects on the overexpression of BAX and the downregulation of BCL2. The drug combination had a greater influence on apoptosis induction compared with either drug administered alone after 48 hours of treatment. CONCLUSION: The results of this study suggested that resveratrol exhibited a remarkable efficacy to improve the influence of glucocorticoids drugs, especially prednisolone, to induce apoptosis in the CCRF-CEM cell line.
Apoptosis* ; Biological Products ; Cell Line* ; Down-Regulation ; Flow Cytometry ; Glucocorticoids ; Humans* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma* ; Prednisolone ; Real-Time Polymerase Chain Reaction

Infertility is one of the disorders that worries many couples around the world, although novel and molecular methods can be used to cure this disease in different stages. One of the factors that causes infertility in men and women is the increased oxidative stress within the cells, which can lead to damage in zygote formation. ROMO1 is one of the most important proteins in the production of reactive oxygen species. This protein can enhance oxidative stress in the cells and body through cellular pathways, such as TNF-α and NF-κB routes, which will eventually lead to many diseases, especially infertility. We engage several international databases by using keywords; ROMO1, Infertility, and Reactive Oxygen Species, and gained a great quantity of information about ROMO1, Infertility, and Oxidative Stress. Although not proven, it is hypothesized that ROMO1 might elevate oxidative stress by activating NF-κB pathway in the cells, furthermore, TNF-αcan arouse ROMO1 that can end up with apoptosis and cell death, which consequently can have a lot of disturbing effects on the body, especially the reproductive system. To sum up, revealing the exact cellular and molecular mechanisms of ROMO1-dependent TNF-α and NF-κB pathways in the pathogenesis of infertility might find interesting therapeutic and management strategies for this disorder.

BACKGROUND AND OBJECTIVES: Considering important role of vitamin D in many physiological processes including vestibular system in the ear, aim of present study is to evaluate saccule function via cervical vestibular evoked myogenic potential (cVEMP), in patients with vitamin D deficiency. SUBJECTS AND METHODS: After routine audiological tests, cVEMP were recorded in 15 patients with vitamin D deficiency and 16 normal subjects. The short tone burst (95 dB nHL, 500 Hz) was presented to ears. cVEMP was recorded with surface electromyography over the contracted ipsilateral sternocleidomastoid muscle. RESULTS: Mean of p13, n13, interpeak latencies and amplitude ratios were measured in both groups. Statistical analysis did not show differences between two groups. CONCLUSIONS: Maybe serum 25-hydroxyvitamin D concentration was not low enough to have effect on saccule in the patients in present study or saccule have had low susceptibility to effects of vitamin D deficiency. For better judgment about effect of vitamin D deficiency on saccular function planning studies with high sample size is recommended.
Ear ; Electromyography ; Humans ; Judgment ; Physiological Processes ; Saccule and Utricle ; Sample Size ; Vitamin D Deficiency ; Vitamin D ; Vitamins

Purpose: The aim of this study was to compare the hepatitis B surface antibody (HBs Ab) titer 1 month after the 4th dose of hepatitis B vaccine administration on the large and appropriate for gestational age infants. Materials and Methods: This cross-sectional study was conducted on 7-month-old cases (n=132) divided into two groups of 2–4 kg (group 1: appropriate for gestational age, 63 cases) and >4 kg (group 2: large for gestational age, 69 cases), whom were vaccinated with a fourdose schedule of hepatitis B vaccine in 2016, Tehran, Iran. Results: Mean birth weight of the groups was 2.98±0.528 and 4.19±0.190 kg, respectively.Hepatitis B surface antigen and hepatitis B core antibody were negative in all cases. HBs Ab level in group 1 and 2 was 13,701.00±11,744.439 and 8,997.15±2,827.191, respectively (95% confidence interval of difference, -7,607.44 to -1,800.25). There was a significant difference between the two groups in antibody titration and antibody logarithm level (p=0.002, p=0.0001). Conclusion Birth weight may affect the response to the hepatitis B virus vaccine administration.

Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy with an unfavorable outcome. The present research aimed to identify novel biological targets for AML diagnosis and treatment. In this study, we per‑ formed an in-silico method to identify antisense RNAs (AS-RNAs) and their related co-expression genes. GSE68172 was selected from the AML database of the Gene Expression Omnibus and compared using the GEO2R tool to find DEGs. Antisense RNAs were selected from all the genes that had significant expression and a survival plot was drawn for them in the GEPIA database, FOXD2-AS1 was chosen for further investigation based on predetermined criteria (logFC ≥|1| and P < 0.05) and its noteworthy association between elevated expression level and a marked reduction in the overall survival (OS) in patients diagnosed with AML. The GEPIA database was utilized to investigate FOXD2-AS1-related co-expression and similar genes. The Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis and gene ontology (GO) function analysis of the mentioned gene lists were performed using the DAVID database. The protein–protein interaction (PPI) network was then constructed using the STRING database.Hub genes were screened using Cytoscape software. Pearson correlation analysis was conducted using the GEPIA database to explore the relationship between FOXD2-AS1 and the hub genes. The transcription of the selected cod‑ ing and non-coding genes, including FOXD2-AS1, CDC45, CDC20, CDK1, and CCNB1, was validated in 150 samples, including 100 primary AML non-M3 blood samples and 50 granulocyte colony stimulating factor (G-CSF)-mobilized healthy donors, using quantitative Real-Time PCR (qRT-PCR). qRT-PCR results displayed significant upregulation of lnc-FOXD2-AS1, CDC45, and CDK1 in primary AML non-M3 blood samples compared to healthy blood samples (P = 0.0032, P = 0.0078, and P = 0.0117, respectively). The expression levels of CDC20 and CCNB1 were not statistically different between the two sets of samples (P = 0.8315 and P = 0.2788, respectively). We identified that AML patients with upregulation of FOXD2-AS1, CDK1, and CDC45 had shorter overall survival (OS) and Relapse-free survival (RFS) compared those with low expression of FOXD2-AS1, CDK1, and CDC45. Furthermore, the receiver operating charac‑ teristic (ROC) curve showed the potential biomarkers of lnc -FOXD2-AS1, CDC45, and CDK1 in primary AML non-M3 blood samples. This research proposed that the dysregulation of lnc-FOXD2-AS1, CDC45, and CDK1 can contribute to both disease state and diagnosis as well as treatment. The present study proposes the future evolution of the func‑ tional role of lnc-FOXD2-AS1, CDC45, and CDK1 in AML development.

Strongyloides stercoralis is a human intestinal parasite which may lead to complicated strongyloidiasis in immunocompromised. Here, a case of complicated strongyloidiasis in a patient with chronic lymphocytic leukemia is reported. Presence of numerous S. stercoralis larvae in feces and sputum confirmed the diagnosis of hyperinfection syndrome in this patient. Following recovery of filariform larvae from agar plate culture of the stool, the isolate was characterized for the ITS1 region of ribosomal DNA gene by nested-PCR and sequencing. Albendazole therapy did not have cure effects; and just at the beginning of taking ivermectin, the patient died. The most important clue to prevent such fatal consequences is early diagnosis and proper treatment.
Aged ; Albendazole/therapeutic use ; Animals ; Anthelmintics/therapeutic use ; Fatal Outcome ; Humans ; Ivermectin/therapeutic use ; Larva ; Leukemia, Lymphocytic, Chronic, B-Cell/*complications/parasitology ; Male ; Strongyloides stercoralis/*classification ; Strongyloidiasis/*complications/drug therapy