Biomedical research and clinical reviews最新文献

Morbus Gaucher a diagnostic challenge Morbus Gaucher是一个诊断挑战

Biomedical research and clinical reviews Pub Date : 2022-12-23 DOI: 10.31579/2692-9406/125

Marsela Shani

{"title":"Morbus Gaucher a diagnostic challenge","authors":"Marsela Shani","doi":"10.31579/2692-9406/125","DOIUrl":"https://doi.org/10.31579/2692-9406/125","url":null,"abstract":"Morbus Gaucher is an inherited disease of fat deposition caused by an autosomal recessive defect in the gene encoding the enzyme β-glucocerebrosidase, responsible for the accumulation of glucosylceramides in reticuloendothelial cells, turning this multidimensional disease into a debilitating Gaucher disease and are found mainly in the spleen, liver, bone marrow and rarely in the lung. The level of glucocerebrosidase enzymatic activity in patients with Gaucher is seen to reach around 5–25% of normal activity. Measurement of this level in leukocytes or cutaneous fibroblasts is considered the “Gold Standard” for Gaucher diagnosis. Although Gaucher is the most common lysosomal deposition disease it remains rare and most cases present with a gradual installation of the clinic which explains the delay in diagnosis. It is very important to include Gaucher as a possible diagnosis in cases of splenomegaly and / or thrombocytopenia. The study, \"Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia,\" published in Scientific Reports, managed to reconstruct a diagnostic algorithm that managed to identify the relationship between platelet count, ferritin and transferrin saturation, thus making it possible to achieve a possible approach regarding the diagnosis of GD, which for the sake of truth continues to be an undiagnosed / misdiagnosed pathology.","PeriodicalId":72392,"journal":{"name":"Biomedical research and clinical reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49271682","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

Why only a man turned out to be the owner of mind? 为什么只有男人才是思想的主人?

Biomedical research and clinical reviews Pub Date : 2022-12-23 DOI: 10.31579/2692-9406/126

A. Ibraimov

{"title":"Why only a man turned out to be the owner of mind?","authors":"A. Ibraimov","doi":"10.31579/2692-9406/126","DOIUrl":"https://doi.org/10.31579/2692-9406/126","url":null,"abstract":"It is considered that the main distinguishing feature of Homo sapiens from other living beings is the presence of his mind. There are many hypotheses regarding the origin of the human mind. The complexity of the problem lies in the fact that it is impossible to experimentally test any of the existing hypotheses. Perhaps we will never fully know how the human mind arose, but it is necessary to strive for this. Here we discuss the possible causes of the origin of a large brain in modern man, implying that the mind is ultimately a product of the human brain. We believe that in order for such a large brain to arise, profound and possibly unique changes in the genome and in the human body had to occur, which did not take place in other higher primates. The role of the evolution of the karyotype and heterochromatin part of the genome in the immediate ancestors of Homo s. sapiens, which led to an increase in the level of heat conductivity of their bodies changed the existing mechanisms of thermoregulation and led to the appearance of hairless skin, which, together, led to a sharp increase in the size of the brain, with the ensuing consequences, is discussed. We believe that the increase of the human brain size was not the result of drastically changes of the structural genes. Most likely it was the consequence of more ordinary events, such as evolution of karyotype, constitutive heterochromatin in chromosomes, human body heat conductivity, skin and thermoregulation. An experimental test is proposed to test the hypothesis put forward.","PeriodicalId":72392,"journal":{"name":"Biomedical research and clinical reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46996422","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

Right Bundle Branch Block as a Form of Presentation of Acute Myocardial Infarction 右束支传导阻滞作为急性心肌梗死的一种表现形式

Biomedical research and clinical reviews Pub Date : 2022-12-23 DOI: 10.31579/2692-9406/134

Claribel Plain Pazos

引用次数: 0

Impact of G6pd Deficiency on Sickle Cell Disease in Children in Kinshasa Hospitals: A Case-Control Study G6pd缺乏对金沙萨医院儿童镰状细胞病的影响:一项病例对照研究

Biomedical research and clinical reviews Pub Date : 2022-12-23 DOI: 10.31579/2692-9406/135

Ariane Keto

{"title":"Impact of G6pd Deficiency on Sickle Cell Disease in Children in Kinshasa Hospitals: A Case-Control Study","authors":"Ariane Keto","doi":"10.31579/2692-9406/135","DOIUrl":"https://doi.org/10.31579/2692-9406/135","url":null,"abstract":"Background and aim: Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency and sickle cell disease are two genetic diseases of the red blood cell that both cause hemolytic anemia. The objective of this study is to determine the clinico- biological impact of G6PD deficiency on sickle cell disease in childrenin Kinshasa. Materials and method: This is a case-control analytical study of 103 G6PD-deficient sickle cell patientsand 309 non-G6PD- deficientsickle cell patients. Analysis of G6PD activitywas performed by ELISA, and hemoglobin electrophoresis by capillaris to confirm sickle cell disease.For all children, sociodemographic, clinical and biological variables were analyzed. Results: The mean age of sickle cell deficient and non-deficient patients was 9.82±4.5 years and 9.48±3.8 years respectively. There were slightly more female sickle cell deficient patients (55.2%) while in the non- deficient group, there was a male predominance (51.8%) but no statistically significant difference (p>0.05). All morbid events occurring in sickle cell patients were greater in the G6PD deficiency group (p˂0.05). Evaluated antecedent complications occurringin sickle cell patients wereassociated with G6PD deficiency (p˂0.05),except for stroke.No statistically significant difference was noted in physicalsigns between sicklecell deficient and non-deficient groups(p>0.05). The hemogramshowed no difference between the two groups in steady state and the hemolysis markers evaluated also showed no significant differences in steady state (p>0.05) between the two groups. Conclusion: G6PD deficiency aggravates the acute clinical manifestations and complications of sickle cell disease withoutaffecting the occurrence of stroke. And has no impact on the hematological parameters of sickle cell disease children in stationary phase.","PeriodicalId":72392,"journal":{"name":"Biomedical research and clinical reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44926833","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

Why are there so Many non-coding DNAs with Repeating Sequences of Nucleotides in the Genome of Higher Eukaryotes? 为什么在高等真核生物的基因组中有这么多具有重复核苷酸序列的非编码dna ?

Biomedical research and clinical reviews Pub Date : 2022-09-07 DOI: 10.31579/2692-9406/119

A. Ibraimov

引用次数: 0

How and Why Macrophages are Connected with the Parkinson’s Disease: A Short Review to Develop a Therapeutic Strategy for PD 巨噬细胞如何以及为什么与帕金森病有关:PD治疗策略的简要回顾

Biomedical research and clinical reviews Pub Date : 2022-09-07 DOI: 10.31579/2692-9406/127

A. Chakraborty

引用次数: 0

The Role of Human Skin Color and Body Heat Conductivity in Adaptation to Hot and Cold Climates 人类皮肤颜色和身体导热系数在适应冷热气候中的作用

Biomedical research and clinical reviews Pub Date : 2022-09-07 DOI: 10.31579/2692-9406/123

A. Ibraimov

{"title":"The Role of Human Skin Color and Body Heat Conductivity in Adaptation to Hot and Cold Climates","authors":"A. Ibraimov","doi":"10.31579/2692-9406/123","DOIUrl":"https://doi.org/10.31579/2692-9406/123","url":null,"abstract":"As is known Homo s. sapiens is the only living creature that has managed to inhabit the whole of the Earth, while remaining a single tropical biological species. The case is really unique considering that all this happened in an unprecedentedly short (by evolutionary scale) period of time, if the beginning of this process is considered to be its exit outside of East Africa about 30 000 - 50 000 years ago. However, science does not know everything about how all this happened to a species that itself emerged relatively recently (130 000 - 200 000 year ago) and nevertheless managed to do what other species failed to do. One of the important questions that arises when comprehending this phenomenon is reduced to the following: what features of a human him to make such an unprecedented breakthrough in the settlement of the planet? In particular, what biological advantages or prerequisites did the ancestors of modern man possess when they decided to leave Africa? Usually, such advantages include its large neocortex with a high-functioning mind, high physiological plasticity, perfect system of physiological thermoregulation, the structural features of the upper limbs, unique sexual and reproductive behavior, etc., etc. Without disputing the importance of these well-studied advantages, we would like to add to this list two more that could play an important role in the settlement of all climatogeographic zones of Africa and Eurasia by man: variability of the skin color and the level of heat conductivity of his body. We believe that the skin color and the heat-conducting ability of the human body are involved in his adaptation to heat and cold climates through thermoregulation systems. After all, the skin is the largest human organ that is in direct contact with the ambient temperature.","PeriodicalId":72392,"journal":{"name":"Biomedical research and clinical reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42856334","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

An Unusual Case of Osteomyelitis in a Pediatric Patient 一例罕见的小儿骨髓炎病例

Biomedical research and clinical reviews Pub Date : 2022-09-07 DOI: 10.31579/2692-9406/131

R. Leonard

引用次数: 0

CNS Lymphoma: Clinical Pearls and Management Considerations 中枢神经系统淋巴瘤：临床珍珠和管理注意事项

Biomedical research and clinical reviews Pub Date : 2022-06-27 DOI: 10.31579/2692-9406/121

M. Michel, N. Lucke-Wold, M. R. Hosseini, E. Panther, Ramya Reddy, B. Lucke-Wold

引用次数: 1

The Case Number 112 of Congenital Chylous Ascites and Its Successful Treatment 112例先天性Chylous腹水及其成功治疗

Biomedical research and clinical reviews Pub Date : 2022-06-15 DOI: 10.31579/2692-9406/118

Aamir Jalal Al-Mosawi

{"title":"The Case Number 112 of Congenital Chylous Ascites and Its Successful Treatment","authors":"Aamir Jalal Al-Mosawi","doi":"10.31579/2692-9406/118","DOIUrl":"https://doi.org/10.31579/2692-9406/118","url":null,"abstract":"Background:Congenital chylous ascites is a very rare condition that has been well recognized as early as the 1950s, and was mostly called “Congenital chyloperitoneum” during that time. Few cases have been reported during the 1960s, and in 1967, Craven et al attributed the development of congenital chylous ascites to obstruction of the cisterna chyli and chylous reflux into the peritoneal space and small intestine and they demonstrated lymphangiographically. Patients and methods: The use of a unique dietary therapy for the treatment of congenital chylous ascites is briefly described and the relevant literature is described. Results:An infant with congenital chylous ascites was seen at about the age of two and half months. He was initially treated with intravenous somatostatin infusion, and thereafter by repeated paracentesis, and continued to receive breast and bottle milk feedings. However, when he was first seen, ultrasound was still showing moderate ascites. The boy was successfully treated a combination of a unique form of very low-fat diet and octreotide acetate subcutaneous injections. Treatment was not associated with a negative effect on growth or development, and no evidence of nutritional deficiency was observed. Conclusion: The case number 112 of congenital chylous ascites is reported and its unique therapeutic approach is described.","PeriodicalId":72392,"journal":{"name":"Biomedical research and clinical reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47629194","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