A new mutation in FGFR1 gene (p.M771I) with no pathogenic effect on hearing loss found by Whole Exome Sequencing in an Iranian family
1.1. Objectives: Hearing loss, the second most frequent sensori neural impairment, could be associated with missense mutations in several genes involved in the development of hearing parts. The re ceptor tyrosine kinase fibroblast growth factor receptor 1 (FGFR1) is known to be expressed in the inner ear and plays an important role in the formation of auditory-sensory epithelium. There have been some reports of FGFR1 gene mutations causing hearing loss. Using Whole Exome Sequencing (WES), we identified a novel mutation in the FGFR1 gene in a 30-year-old Iranian woman. 1.2. Material and Methods: Whole Exome Sequencing (WES) was performed on a 30-year-old woman, followed by sanger se quencing to check for the new mutation in her parents. PolyPhen-2 and Mupro in silico studies were performed to identify probable changes in wild-type and mutant structures. 1.3. Results: WES analysis showed a novel mutation in FGFR1 (NM 023110: exon18:c.G2313A:p.M771I) in the case. Her par ents’ Sanger sequencing revealed heterozygosity in her father and homozygosity of the normal allele in her mother. In silico inves tigations revealed no significant differences in pathogenic effects. 1.4. Conclusion: Altogether, our findings revealed no pathogen ic effect of the new mutation (M771I) of the FGFR1 gene in an Iranian 30-year-old woman. Because of hearing loss importance in preclinical diagnosis, this benign variant could help with the FGFR1 role on hearing loss in future pregnancies.
A new de novo mutation in HTRA1 gene associated with painful Ataxia, developmental delay, and autistic behaviors symptoms in an Iranian boy through Whole Exome Sequencing followed by homology modeling
1.1. Introduction: Due to the insufficiency of understanding about Dominant Arteriopathy with Subcortical Infarcts and Leukoen cephalopathy (CADASIL) in general clinical studies, the process of diagnosis for most CADASIL patients is complex and often prolonged. The disease’s symptomatic heterogeneity, which hap pens frequently even among family members, increases the com plexity of diagnosis. 1.2. Methods: In vitro analysis was carried out by Whole Exome Sequencing (WES) for a 2-year-old boy. He had ataxia, develop mental delay, delayed speech and language development, and au tistic behaviors. Mutational confirmations were also done on both of his parents to find the genotypes. Also, bioinformatics predic tions were performed by SWISS-MODEL, ProSA, Molprobity, and superimposition through MatchMaker in Chimera ver. 1.16. 1.3. Results: WES analysis uncovered a novel de novo missense mutation in the HTRA1 gene (exon1:c.320C>T:p.A107V) in the case. Mutation conformations documented the homozygosity of the normal allele in both of the case’s parents. Superimposition predictions suggested two beta-sheet unfolded in the mutant model (T allele or Val107). 1.4. Conclusion: Consequently, in an autosomal dominant pattern of genetic inheritance, the current study described a novel de novo mutation in the HTRA1 gene (A107V) associated with neurologi cal features such as painful ataxia, and developmental and speech delays. Pain management is necessary in this case and future cases with the same symptoms.
A Rare Case of Locally Advanced Sinonasal Lymphoepithelial Carcinoma
Sinonasal lymphoepithelial carcinoma (SLEC) is an extremely rare malignant tumor of the sinonasal tract. In this case report, we present a case with locally advanced disease of the posterior ethmoid cells. We also aim to review the clinical, radiological and pathological features, as well as the available treatment strategies, contributing to the literature of this rare malignancy. Our patient presented with unilateral nasal congestion, discharge, recurrent epistaxis, aural fullness, diplopia and visual disturbance. Imaging revealed an extensive osteolytic lesion of the right nasal cavity with intraorbital and intracranial invasion. Histopatholog ical examination of posterior ethmoid cell mucosa demonstrated undifferentiated malignant cells, associated with lymphoplasma cytic infiltration, while the immunohistochemistry was positive for pancytokeratin. A final diagnosis of EBV-positive SLEC was rendered and the patient was treated with concomitant chemo-ra diotherapy. To our knowledge, this is the first case report of SLEC arising from the posterior ethmoid cells with invasion into the orbit and middle cranial fossa.
Case Report: A 52-Year Healthy Woman Developed Severe Microwave Syndrome Shortly After Installation of a 5G Base Station Close to Her Apartment
In this case report we present a woman aged 52 years who de veloped health problems consistent with the microwave syndrome after installation of a 5G base station facing her apartment at 60 meters’ distance. These symptoms consisted of e.g., headache, diz ziness, concentration difficulties, fatigue, arrhythmia, skin burn ing and nose bleeding corresponding to the microwave syndrome. High radiofrequency (RF) radiation levels were measured in her apartment especially in the part closest to the base station. In her living room at the window 17 500 to 758 000 μW/m2 peak levels were obtained during 10 measurements, each over 1 minute. At the place of her sofa in her living room peak levels from 36 800 to 222 000 μW/m2 were measured. It is noteworthy that very high radiation was found at the balcony facing the base station. All ten measurements at that place yielded within 10-15 seconds peak lev els >2 500 000 μW/m2 , which is the highest measurable level with the meter used in this study. At the playground about 40 meters from the base station peak levels of 1 120 000 μW/m2 and 479 000 μW/m2 were measured, respectively. After temporally leaving the apartment for another dwelling with much lower RF radiation, 96 to 2 810 μW/m2 peak levels, almost all symptoms disappeared within a short time. After moving back to her own apartment the symptoms reappeared. This study is in line with the results of our two previous case studies showing that installation of 5G caused an extreme increase in exposure and rapid development of the mi crowave syndrome. These case studies indicate that implementa tion of 5G cannot be done without the risk of harmful effects on human health.
One Case of Abnormal Liver Function with Unknown Reason
1.1. Background: One case of abnormal liver function with un known reason was reported in this paper. It was a rare case with rare manifestations. 1.2. Case Presentation: A 6 years old boy, with a chief complain of “persistent abnormal liver function for one and a half years”, ad mitted for a preliminary diagnosis as abnormal liver biochemistry index, reason to be investigated. After medical history collection, physical examination and routine examination, common causes of liver damage have been eliminated. Finally, the medical history was combed again, and it was found that the patient had poor mo tor function and some mental retardation. After genetic testing, the patient was diagnosed with progressive muscular dystrophy. 1.3. Conclusions: Transaminase increase is less seen as the first symptom in this kind of hereditary metabolic diseases, which re minds clinicians to pay attention.
Megaloblastic Anemia
Folic acid and cobalamin are B-group vitamins that play an es sential role in many cellular processes in the body. Deficiency in one or both of these vitamins causes megaloblastic anaemia. This is a disease characterized by the presence of megaloblasts. Meg aloblasts occur when inhibition of DNA synthesis causes abnor mal maturation between the nucleus and the cytoplasm of the cell. Megaloblastic anemia causes macrocytic anemia and intramedul lary hemolysis. The most common causes are folate (vitamin B9) deficiency and cobalamin (vitamin B12) deficiency. Megaloblas tic anemia can be diagnosed based on characteristic morphologic and laboratory findings. Therapy involves treating the underlying cause eg, with vitamin supplementation in cases of deficiency.
Recurrent Pegfilgrastim-Associated Migratory Large Vessel Vasculitis in a Patient with Breast Cancer with Rare HLA Haplotype: A Case Report
1.1. Background: Granulocyte-Colony Stimulating Factor (G-CSF) rarely induces severe systemic vasculitis. However, diagnosing vasculitis can be challenging because clinical mani festations in the early phase are non-specific. We report a case of pegfilgrastim-associated vasculitis in a patient with rare Human Leukocyte Antigen (HLA) genotype and multifactorial disorder during breast cancer chemotherapy.
Effect of an Intravenous Administration of Adipose-Tissue-Derived Autologous Stem Cells on the Skin Temperature of Paralyzed Limbs of Stroke Patients
1.1. Background: Cold or warm feelings were reported to be common symptoms of stroke patients. We recently reported that intravenous administration of autologous Adipose-Tissue-Derived Stem Cells (ADSCs) significantly improves neurological func tions, including a skin temperature increase, shortly after treat ment. 1.2. Aim: To confirm the effect of ADSCs on the skin temperature of stroke patients, we measured skin temperatures immediately before and shortly after ADSC therapy and evaluated the clinical effect on stroke patients in relevance with the skin temperature.
A Role for Nucleotide-Binding Oligomerization Domain (NOD)-Like Receptor Protein 12 (NLRP12) in Paediatric Inflammatory Bowel Disease (IBD): A Case Report and Literature Review
Paediatric inflammatory bowel disease (IBD) is a chronic disease with a multifactorial etiology. The role of nucleotide-binding oli gomerization domain (NOD)-like receptor protein 12 (NLRP12) in IBD pathogenesis and the clinical relevance of variants of NLRP12 in IBD disease course have not yet been clarified. We report a child with IBD and a wide range of extra-intestinal symptoms in whom many years after IBD onset a novel variant-of-unknown clinical significance (VUS) in the NLRP12-gene was found. Targeted ad justment of therapy improved the clinical course of the extra-in testinal manifestations, suggesting a causative relation with this VUS. We provide an overview of the available literature on the role of NLRP12 in the pathogenesis of IBD.
Treatment of Post Pelvic Surgery Lower Limb Lymphedema Using Herbal Medicine
1.1. Background and Purpose: Research on lymphedema mainly focuses on the upper limb after breast cancer resection. Lymphede ma of lower limbs occurring after pelvic tumor resection should not be ignored. Lymphedema of the lower limbs has a great impact on the quality of life of patients.