Journal of Microscopy and Ultrastructure最新文献

筛选
英文 中文
Apocrine hidrocystoma: A chance finding 大汗腺汗腺瘤:偶然发现
Journal of Microscopy and Ultrastructure Pub Date : 2023-01-01 DOI: 10.4103/jmau.jmau_42_23
Rutuja G. Vidhale, Subraj J Shetty, Aditi Vaidya, Treville Pereira
{"title":"Apocrine hidrocystoma: A chance finding","authors":"Rutuja G. Vidhale, Subraj J Shetty, Aditi Vaidya, Treville Pereira","doi":"10.4103/jmau.jmau_42_23","DOIUrl":"https://doi.org/10.4103/jmau.jmau_42_23","url":null,"abstract":"","PeriodicalId":16340,"journal":{"name":"Journal of Microscopy and Ultrastructure","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70800914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Osteolipoma of the oral cavity: Case report and review of literature 口腔骨脂瘤:1例报告及文献复习
Journal of Microscopy and Ultrastructure Pub Date : 2023-01-01 DOI: 10.4103/jmau.jmau_6_23
A. Anjali, Subraj J Shetty, S. Gotmare, T. Pereira
{"title":"Osteolipoma of the oral cavity: Case report and review of literature","authors":"A. Anjali, Subraj J Shetty, S. Gotmare, T. Pereira","doi":"10.4103/jmau.jmau_6_23","DOIUrl":"https://doi.org/10.4103/jmau.jmau_6_23","url":null,"abstract":"","PeriodicalId":16340,"journal":{"name":"Journal of Microscopy and Ultrastructure","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70801256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Histological Assessment of Systemic Toxicity Induced by Zinc oxide Nanoparticles and the Prophylactic Potency of Ascorbate in Albino Rats. 氧化锌纳米颗粒对白化大鼠全身毒性的组织学评价及抗坏血酸的预防作用。
Journal of Microscopy and Ultrastructure Pub Date : 2022-12-01 eCollection Date: 2024-10-01 DOI: 10.4103/jmau.jmau_68_22
Amira Osman, Said Mohamed Afify, Amira Frag, Sarah Mohammed Alghandour
{"title":"Histological Assessment of Systemic Toxicity Induced by Zinc oxide Nanoparticles and the Prophylactic Potency of Ascorbate in Albino Rats.","authors":"Amira Osman, Said Mohamed Afify, Amira Frag, Sarah Mohammed Alghandour","doi":"10.4103/jmau.jmau_68_22","DOIUrl":"10.4103/jmau.jmau_68_22","url":null,"abstract":"<p><strong>Background: </strong>Nanoparticles of zinc oxide (ZnO-NPs) are frequently implemented in cosmetics, additives, and electronic devices. Moreover, their applications extend to water treatment, drug delivery, and cancer therapy. As a result, NP toxicity became an essential subject in biosafety research.</p><p><strong>Aim: </strong>Using histological and immunohistochemical analysis, we attempted to investigate whether ascorbate (\"vitamin C\") (VC) could protect liver, lung, and spleen tissues from ZnO-NP systemic toxicity.</p><p><strong>Materials and methods: </strong>Rats were classified as control group, NP group injected intraperitoneally (IP), once by dissolved ZnO-NPs (200 mg/kg), and NP + VC group injected IP, once by dissolved ZnO-NPs (200 mg/kg) and then ingested 100 mg/kg of VC orally. Blood samples were collected. Liver, lung, and spleen specimens were prepared for light, electron microscopic, and immunohistochemical analysis.</p><p><strong>Results: </strong>In comparison to the control group, the NP group's liver enzyme, i.e. aspartate transaminase and alanine transaminase, values and counts of white blood cells (WBCs) were higher on the 7<sup>th</sup> day, but their red blood corpuscle (RBC) count, hemoglobin (Hgb) level, platelet count, and albumin values were lower. Histopathological analysis of liver, lung, and spleen tissues showed severe toxicity manifested by cell apoptosis, mononuclear cell infiltration, dilated blood vessels, and hemorrhage. In addition, the NP group showed a significantly higher expression of Ki67 and caspase-3 immunoreactivity. The biochemical, hematological, and histopathological results of the NP + VC group improved overall, reflecting VC's protective effect against systemic toxicity.</p><p><strong>Conclusion: </strong>Our study revealed that ascorbate (VC) inhibited the systemic toxicity prompted by ZnO-NPs in lung, liver, and spleen tissues, indicating its importance for future treatment with ZnO-NPs.</p>","PeriodicalId":16340,"journal":{"name":"Journal of Microscopy and Ultrastructure","volume":"1 1","pages":"177-192"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729027/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70801603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Does a Well-Differentiated Oral Squamous Cell Carcinoma Always Behave Well? A Case Series. 分化良好的口腔鳞状细胞癌是否总是表现良好?案例系列。
Journal of Microscopy and Ultrastructure Pub Date : 2022-12-01 eCollection Date: 2025-01-01 DOI: 10.4103/jmau.jmau_35_22
Reema Raina, Meenakshi Singhal, Anshi Jain, Devi Charan Shetty
{"title":"Does a Well-Differentiated Oral Squamous Cell Carcinoma Always Behave Well? A Case Series.","authors":"Reema Raina, Meenakshi Singhal, Anshi Jain, Devi Charan Shetty","doi":"10.4103/jmau.jmau_35_22","DOIUrl":"10.4103/jmau.jmau_35_22","url":null,"abstract":"<p><p>Oral squamous cell carcinoma is the sixth most common human cancer and is usually preceded by a premalignant lesion. The patient usually presents it to the clinician at an advanced stage where there are limited treatment options available with declining survival rates. Cancer-deteriorated human lives have prepared the clinicians to take a significant step toward the better survival of patients. Hence, here, we report a case series of oral cancer using some prognostic factors that served in reaching out to conclusion and might favor a diagnostic help to clinicians and pathologists. The final diagnosis for every case was given as well-differentiated squamous cell carcinoma, yet they all exhibited poor prognostic parameters. Predictive markers of oral carcinoma in clinical, surgical, and histopathological fields contribute to their improved status of living. Such parameters, evaluated here in this case series, might lend a helping hand in determining the patient vulnerability toward poor survival and be provided with best treatment interventions.</p>","PeriodicalId":16340,"journal":{"name":"Journal of Microscopy and Ultrastructure","volume":"20 1","pages":"42-48"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12063930/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70801283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
ImageJ-FIJI-Assisted Estimation of Intestinal Layers' Volume: Study in Jejunum-Ileum of Rats. image - fiji辅助估计大鼠空肠-回肠肠层体积的研究。
Journal of Microscopy and Ultrastructure Pub Date : 2022-12-01 eCollection Date: 2024-10-01 DOI: 10.4103/jmau.jmau_53_22
Satrio Adi Wicaksono, Yustina Andwi Ari Sumiwi, Dewi Kartikawati Paramita, Rina Susilowati
{"title":"ImageJ-FIJI-Assisted Estimation of Intestinal Layers' Volume: Study in Jejunum-Ileum of Rats.","authors":"Satrio Adi Wicaksono, Yustina Andwi Ari Sumiwi, Dewi Kartikawati Paramita, Rina Susilowati","doi":"10.4103/jmau.jmau_53_22","DOIUrl":"10.4103/jmau.jmau_53_22","url":null,"abstract":"<p><strong>Background: </strong>Studies in the digestive tract often required precision quantification of intestinal volume to observe the effect of certain intervention/condition. Application of stereological methods could bring unbiased and accurate results but commercially computer-assisted systems are not widely available. ImageJ-FIJI is an open source software, which could become an alternative choice in the stereological measurement process.</p><p><strong>Aim: </strong>This study describes simple stereological quantification methods during volume estimation of jejunum-ileum intestinal layers of the rats using a light microscope and ImageJ-FIJI stereological tool.</p><p><strong>Material and methods: </strong>Six 3-months old male Sprague-Dawley rats were terminated and jejunum-ileum was harvested after perfusion. After removal of intestinal luminal content, whole jejunum-ileum weight was measured. The organ was sampled as 6-10 slabs of 1 cm length in a systematic uniformed random sampling manner. Slabs were cut longitudinally at random angles before flattened and put on filter papers for subsequent tissue processing into 2-3 paraffin blocks. One section of 3 μm thick was sampled from each block, stained using toluidine blue and documented using a light microscope connected to a microstepper apparatus. The volume of the intestinal layers was estimated using a point-counting grid on Image J-FIJI software.</p><p><strong>Result: </strong>We compared two sets of counting methods i.e. minimal counting (MC) and rigorous counting (RC) approaches that differ in their respective a/p value. Quantification using RC approach resulted in significantly higher estimated volume of tunica submucosa and tunica muscularis while having more preferable stereological accuracy parameters (CE<5% & CV<10%).</p><p><strong>Conclusion: </strong>Although it required longer counting time, rigorous approaches resulted in higher accuracy while still within the range of rule of thumb criteria of 0.2 < CE<sup>2</sup>/CV<sup>2</sup> < 0.5.</p>","PeriodicalId":16340,"journal":{"name":"Journal of Microscopy and Ultrastructure","volume":"1 1","pages":"171-176"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729021/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70801136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Categorizing Malignant Small Round Cell Tumors in Aspiration Cytology: An Institutional Experience. 抽吸细胞学中恶性小圆形细胞瘤的分类:机构经验。
Journal of Microscopy and Ultrastructure Pub Date : 2022-12-01 eCollection Date: 2024-01-01 DOI: 10.4103/jmau.jmau_66_21
Nibedita Sahoo, Urvashi Ghosh, Debahuti Mohapatra, Priyadarshini Dehuri
{"title":"Categorizing Malignant Small Round Cell Tumors in Aspiration Cytology: An Institutional Experience.","authors":"Nibedita Sahoo, Urvashi Ghosh, Debahuti Mohapatra, Priyadarshini Dehuri","doi":"10.4103/jmau.jmau_66_21","DOIUrl":"10.4103/jmau.jmau_66_21","url":null,"abstract":"<p><strong>Aim and objectives: </strong>The study aims to categorize malignant small round cell tumors (MSRCTs) originating in various sites of the body with the objective of utilization of cytomorphological features and ancillary techniques.</p><p><strong>Study design: </strong>It is a cross-sectional study conducted over a time span of 3 years (2017-2020). 33 cases of tumors with round cell morphology were evaluated by fine needle aspiration cytology (FNAC).</p><p><strong>Materials and methods: </strong>The application of cell block preparation supported by immunohistochemistry aided in the categorization of 23 cases with definite diagnosis and the rest were reported as MSRCTs.</p><p><strong>Results: </strong>Among the categorized 23/33 cases, the most common diagnosis was Ewing's sarcoma (7/23) followed by 6 cases of lymphoma. There were 2 cases each of rhabdomyosarcoma and Langerhans cell histiocytosis (LCH) and 1 case each of neuroblastoma, desmoplastic small round cell tumor (DSRCT), myeloid sarcoma, neuroendocrine tumor of pancreas, plasmacytoma, and small cell carcinoma. Histopathology confirmation was available in 24/33 cases. Among the categorized tumors (23/33), biopsy correlation was available in 19 cases, of which concordant result was seen in 17 cases (89.47%), which were 6 cases of lymphoma, 5 cases of Ewing's sarcoma (EWS), 2 of rhabdomyosarcoma, and 1 each of neuroblastoma, small cell carcinoma, DSRCT, and LCH. Discordant result was seen in one case of rhabdomyosarcoma and a case of synovial sarcoma reported as extraskeletal EWS in cytology. Out of the uncategorized cases reported as MSRTCs, histopathology was available in 5 cases which were diagnosed as rhabdomyosarcoma (1 cases), lymphoma (1 case), amelanotic melanoma (1 case), and extraskeletal EWS (2 cases).</p><p><strong>Conclusion: </strong>Categorization of MSRCTs should be done to implement appropriate therapeutic protocol. FNAC provides a rapid diagnosis contributing immensely for the timely management of the patient. Detailed cytomorphological evaluation serves as a guide for further evaluation by ancillary techniques leading to definitive diagnosis.</p>","PeriodicalId":16340,"journal":{"name":"Journal of Microscopy and Ultrastructure","volume":"1 1","pages":"27-34"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11019590/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70801482","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Primary Sacral Activated B-Cell Like Diffuse Large B-Cell Lymphoma, Triple Expressor Type: A Case Report with Literature Review. 原发性骶骨活化b细胞样弥漫性大b细胞淋巴瘤,三重表达型:1例报告并文献复习。
Journal of Microscopy and Ultrastructure Pub Date : 2022-12-01 eCollection Date: 2024-10-01 DOI: 10.4103/jmau.jmau_64_22
Debahuti Mohapatra, Pradipta Tripathy, Sandip Mohanty, Ankita Pal
{"title":"Primary Sacral Activated B-Cell Like Diffuse Large B-Cell Lymphoma, Triple Expressor Type: A Case Report with Literature Review.","authors":"Debahuti Mohapatra, Pradipta Tripathy, Sandip Mohanty, Ankita Pal","doi":"10.4103/jmau.jmau_64_22","DOIUrl":"10.4103/jmau.jmau_64_22","url":null,"abstract":"<p><p>Primary bone lymphomas are unusual, and accounts for 2% among all lymphomas. Primary sacral lymphomas are still rarer with only 12 cases reported till date. They predominantly affect elderly males, showing occasional spinal epidural space involvement. We report a case of 49-year-old male complaining of low backache and radicular pain for 2 months, followed by the development of parasthesia and bladder and bowel involvement. Lumbosacral spine magnetic resonance imaging revealed an expansile lytic lesion of approximately 6.5 cm with enhanced soft-tissue component extending to neural foramina compressing the spinal cord. Biopsy showed non-Hodgkin's lymphoma showing CD20, B-cell lymphoma (BCL) 6, BCL2, Multiple myeloma (MM) antigen 1 (MUM 1), and Cellular myelocytomatosis oncogene (C-Myc) positivity with CD10 negativity. Thus, the diagnosis of diffuse large B-cell lymphoma (DLBL)-activated B-cell type was rendered. Thirty cases of CD10-negative DLBL with Myc translocation in bone have been found which occur predominantly in Asians. Sacral primary DLBL with Myc translocation is extremely rare, only two cases are reported till date to the best of our knowledge. Because of its rarity, the prognosis and treatment of this entity are still not clear.</p>","PeriodicalId":16340,"journal":{"name":"Journal of Microscopy and Ultrastructure","volume":"1 1","pages":"228-231"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729018/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70801410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Follicular Thyroid Carcinoma Arising in a Background of Hashimoto's Thyroiditis. 以桥本甲状腺炎为背景的滤泡性甲状腺癌。
Journal of Microscopy and Ultrastructure Pub Date : 2022-12-01 eCollection Date: 2025-01-01 DOI: 10.4103/jmau.jmau_61_22
Mona Abdelhamid Kora, Marwa M Serag El-Dien, Asmaa Gaber Abdou
{"title":"Follicular Thyroid Carcinoma Arising in a Background of Hashimoto's Thyroiditis.","authors":"Mona Abdelhamid Kora, Marwa M Serag El-Dien, Asmaa Gaber Abdou","doi":"10.4103/jmau.jmau_61_22","DOIUrl":"10.4103/jmau.jmau_61_22","url":null,"abstract":"<p><p>A prevalent autoimmune condition affecting the thyroid gland known as Hashimoto's thyroiditis (HT) is linked to a higher chance of developing thyroid cancer, especially papillary thyroid carcinoma (PTC) and primary thyroid mucosal-associated lymphoid tissue lymphoma. It is extremely rare for follicular thyroid neoplasms whether adenoma or carcinoma to develop in conjunction with Hashimoto's disease. In this case report, a left thyroid lobe large nodule was diagnosed by US as TIRAD IV. Cytology using fine-needle aspiration was done, and the case was designated as Thy3f (suspicious of follicular neoplasm). The patient underwent total thyroidectomy, gross examination revealed a large capsulated left thyroid lobe nodule and histological examination revealed minimally invasive follicular carcinoma on a background of Hashimoto's disease. The nuclear features of PTC were focal and immunostaining for CK19 was focal and weak. Furthermore, HBME1 IHC was negative and Glypican3 IHC showed focal weak cytoplasmic staining. In conclusion, rather than PTC and lymphoma, HT could coexist with other forms of thyroid neoplasms as follicular carcinoma.</p>","PeriodicalId":16340,"journal":{"name":"Journal of Microscopy and Ultrastructure","volume":"1 1","pages":"32-34"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12063921/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70800948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Multidisciplinary Intervention for Patau Syndrome Patient with Long-Term Survival: A Case Report of Single Institution-Based Detailed Clinical Management. 多学科干预对长期生存的帕陶综合征患者:单机构详细临床管理一例报告。
Journal of Microscopy and Ultrastructure Pub Date : 2022-12-01 eCollection Date: 2025-01-01 DOI: 10.4103/jmau.jmau_54_22
Anas S Alyazidi, Mohammed Abdullah Alsubaie, Maha K Alghamdi, Waheeb Sami Aggad
{"title":"Multidisciplinary Intervention for Patau Syndrome Patient with Long-Term Survival: A Case Report of Single Institution-Based Detailed Clinical Management.","authors":"Anas S Alyazidi, Mohammed Abdullah Alsubaie, Maha K Alghamdi, Waheeb Sami Aggad","doi":"10.4103/jmau.jmau_54_22","DOIUrl":"10.4103/jmau.jmau_54_22","url":null,"abstract":"<p><p>Trisomy 13 is a clinically severe condition wherein has a median life expectancy of 7 to 10 days, approximately 90% of patients end up dying during the 1<sup>st</sup> year of life. Among surviving births, it is the third most prevalent trisomy. It is significant as it is tied to a variety of central nervous, cardiac, and circulatory systems, urogenital system malformations, as well as a low survival rate. The factors that contribute to a longer survival rate are not fully understood. However, several studies have found that some factors such as genetic translocations or mosaicism, race, and female gender improve survivability. We describe a 14-year-old female with mosaic Patau syndrome (47, XX + 13) who experienced life longer than usual.</p>","PeriodicalId":16340,"journal":{"name":"Journal of Microscopy and Ultrastructure","volume":"1 1","pages":"35-39"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12063923/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70801166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Phenotypic and Molecular Spectrum of Guanidinoacetate N-Methyltransferase Deficiency: An Analytical Study of a Case Series and a Scoping Review of 53 Cases of Guanidinoacetate N-Methyltransferase. 胍乙酸 N-甲基转移酶缺乏症的表型和分子谱:胍基乙酸 N-甲基转移酶缺乏症的表型和分子谱:一个病例系列的分析研究和 53 例胍基乙酸 N-甲基转移酶缺乏症病例的范围回顾。
Journal of Microscopy and Ultrastructure Pub Date : 2022-12-01 eCollection Date: 2024-04-01 DOI: 10.4103/jmau.jmau_16_22
Anas S Alyazidi, Osama Y Muthaffar, Mohammed K Shawli, Renad A Ahmed, Yara Fahad Aljefri, Layan Saleh Baaishrah, Abdulaziz T Jambi, Fahad A Alotibi
{"title":"Phenotypic and Molecular Spectrum of Guanidinoacetate N-Methyltransferase Deficiency: An Analytical Study of a Case Series and a Scoping Review of 53 Cases of Guanidinoacetate N-Methyltransferase.","authors":"Anas S Alyazidi, Osama Y Muthaffar, Mohammed K Shawli, Renad A Ahmed, Yara Fahad Aljefri, Layan Saleh Baaishrah, Abdulaziz T Jambi, Fahad A Alotibi","doi":"10.4103/jmau.jmau_16_22","DOIUrl":"10.4103/jmau.jmau_16_22","url":null,"abstract":"<p><strong>Background: </strong>Guanidinoacetate methyltransferase deficiency (GAMT) is an autosomal recessive inborn error of metabolism. A condition that results from a pathogenic variant in the GAMT gene that maps to 19p13.3. The prevalence can be estimated to be up to 1:2,640,000 cases; countries such as Saudi Arabia could have a higher prevalence due to high consanguinity rates. The clinical manifestations that a patient could obtain are broad and start to manifest in the patients' early childhood years.</p><p><strong>Materials and methods: </strong>A thorough review of case reports in January 2022 was conducted. The retrieved literature was screened for demographic data. Patients of all ages were included. Qualitative variables were described as number and percentage (%), and quantitative data were described by the mean and standard deviation. In bivariate data, Chi-square test (χ<sup>2</sup>) was used and <i>t</i>-test for nonparametric variables.</p><p><strong>Results: </strong>Gender distribution was 53% of males and 47% females. Reported age ranged from 8 to 31 months. At the age of onset, 50% of the cases were infants, 28% were toddlers, and 15% were children, concluding that 79% of the reported cases developed symptoms before 5 years old. 68% of the cases developed generalized seizures throughout their life. 84% of the cases expressed a form of developmental delay. 43% of the cases had intellectual disabilities and mental retardation that affected their learning process; most cases required special care. 23% of the affected cases were of consanguineous marriages, and 7% had affected relatives.</p><p><strong>Conclusion: </strong>We described four novel case reports, the first to be reported in Saudi Arabia. Seizure was a leading finding in the majority of the cases. Developmental delay was broadly observed. Intellectual delay and language impairments are primary hallmarks. Further understanding and early diagnosis are recommended. Premarital testing of neurogenetic diseases using whole-exome sequencing is probably a future direction, especially in populations with high consanguinity rates.</p>","PeriodicalId":16340,"journal":{"name":"Journal of Microscopy and Ultrastructure","volume":"1 1","pages":"81-90"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11245129/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70800530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信