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.
{"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}
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.
{"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}
Ischemic heart disease is the leading cause of death worldwide, its frequency has increased in recent years. Right bundle branch block occurs in the general population and may be an incidental finding on the electrocardiogram or a manifestation of heart or lung disease with or without associated symptoms. A case of a 57-year-old man with a health history that begins with epigastric pain and an Electrocardiogram with right bundle branch block is presented. He is diagnosed with acute myocardial infarction and is treated urgently. Within two hours of the start of the event, the patient dies. Right bundle branch block can be the debut of an acute myocardial infarction while it casts a shadow over its prognosis.
{"title":"Right Bundle Branch Block as a Form of Presentation of Acute Myocardial Infarction","authors":"Claribel Plain Pazos","doi":"10.31579/2692-9406/134","DOIUrl":"https://doi.org/10.31579/2692-9406/134","url":null,"abstract":"Ischemic heart disease is the leading cause of death worldwide, its frequency has increased in recent years. Right bundle branch block occurs in the general population and may be an incidental finding on the electrocardiogram or a manifestation of heart or lung disease with or without associated symptoms. A case of a 57-year-old man with a health history that begins with epigastric pain and an Electrocardiogram with right bundle branch block is presented. He is diagnosed with acute myocardial infarction and is treated urgently. Within two hours of the start of the event, the patient dies. Right bundle branch block can be the debut of an acute myocardial infarction while it casts a shadow over its prognosis.","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":"49453492","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}
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.
{"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}
There are many questions regarding the biological roles of non-coding DNAs (ncDNAs) in the eukaryotic genome. It is noteworthy that ncDNAs, despite the overwhelming majority in the genome is still a mysterious object. From simple theoretical considerations, it follows that this vast class of ncDNAs should play some important role in the vital activity of higher eukaryotes. If by their nature they are not capable create specific biological products (proteins, enzymes or RNAs), then they must form some non-specific structures in the cell that are important in the vital activity of higher eukaryotes. Thus, from our point of view, excess ncDNAs were fixed in the genome of higher eukaryotes mainly due to the presence in their composition of sites with repetitive sequences of nucleotides and their wide variability in the population, which ultimately played a decisive role in the emergence of the eukaryotic nucleus and cells, biological sex and species, large multicellular and warm-blooded organisms, up to modern humans.
{"title":"Why are there so Many non-coding DNAs with Repeating Sequences of Nucleotides in the Genome of Higher Eukaryotes?","authors":"A. Ibraimov","doi":"10.31579/2692-9406/119","DOIUrl":"https://doi.org/10.31579/2692-9406/119","url":null,"abstract":"There are many questions regarding the biological roles of non-coding DNAs (ncDNAs) in the eukaryotic genome. It is noteworthy that ncDNAs, despite the overwhelming majority in the genome is still a mysterious object. From simple theoretical considerations, it follows that this vast class of ncDNAs should play some important role in the vital activity of higher eukaryotes. If by their nature they are not capable create specific biological products (proteins, enzymes or RNAs), then they must form some non-specific structures in the cell that are important in the vital activity of higher eukaryotes. Thus, from our point of view, excess ncDNAs were fixed in the genome of higher eukaryotes mainly due to the presence in their composition of sites with repetitive sequences of nucleotides and their wide variability in the population, which ultimately played a decisive role in the emergence of the eukaryotic nucleus and cells, biological sex and species, large multicellular and warm-blooded organisms, up to modern humans.","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":"45217120","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}
Chronic neuro-inflammation cause the neural cell death including dopaminergic cells and ultimate results Parkinson’s disease (PD). In an MPTP-induced PD animal model an increased peripheral pro-inflammatory M1 macrophages (M1- MFs) were found. Polarization of this M1-type of MFs to anti-inflammatory M2-type revealed a potential therapeutic benefit for PD patients. Here we highlight the concept of MFs re-education as a method of PD therapies, and how we can deploy our knowledge to find out therapeutic regimen for PD treatment.
{"title":"How and Why Macrophages are Connected with the Parkinson’s Disease: A Short Review to Develop a Therapeutic Strategy for PD","authors":"A. Chakraborty","doi":"10.31579/2692-9406/127","DOIUrl":"https://doi.org/10.31579/2692-9406/127","url":null,"abstract":"Chronic neuro-inflammation cause the neural cell death including dopaminergic cells and ultimate results Parkinson’s disease (PD). In an MPTP-induced PD animal model an increased peripheral pro-inflammatory M1 macrophages (M1- MFs) were found. Polarization of this M1-type of MFs to anti-inflammatory M2-type revealed a potential therapeutic benefit for PD patients. Here we highlight the concept of MFs re-education as a method of PD therapies, and how we can deploy our knowledge to find out therapeutic regimen for PD treatment.","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":"42404247","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}
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.
{"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}
Background: In children, Staphylococcus aureus infects growing, long bones causing osteomyelitis. While the symptoms are recognizable, its occurrence in children is quite rare. Purpose: To highlight a novel case of pediatric osteomyelitis with delirium. Presentation: A 10-year old male presented to the emergency room with a fever and limited range of motion, swelling, and pain in the right clavicular region. His condition declined over two days, developing tachycardia and delirium. Laboratory and imaging studies revealed an abscess in the chest wall as well as severe myositis and cellulitis. The patient was treated with surgical drainage and IV antibiotics, leading to resolution of the patient’s condition. Conclusion: This case report will help physicians in the pediatric or emergency department settings consider, identify, and accurately assess patients for osteomyelitis in developing treatment plans to resolve their patients’ conditions.
{"title":"An Unusual Case of Osteomyelitis in a Pediatric Patient","authors":"R. Leonard","doi":"10.31579/2692-9406/131","DOIUrl":"https://doi.org/10.31579/2692-9406/131","url":null,"abstract":"Background: In children, Staphylococcus aureus infects growing, long bones causing osteomyelitis. While the symptoms are recognizable, its occurrence in children is quite rare. Purpose: To highlight a novel case of pediatric osteomyelitis with delirium. Presentation: A 10-year old male presented to the emergency room with a fever and limited range of motion, swelling, and pain in the right clavicular region. His condition declined over two days, developing tachycardia and delirium. Laboratory and imaging studies revealed an abscess in the chest wall as well as severe myositis and cellulitis. The patient was treated with surgical drainage and IV antibiotics, leading to resolution of the patient’s condition. Conclusion: This case report will help physicians in the pediatric or emergency department settings consider, identify, and accurately assess patients for osteomyelitis in developing treatment plans to resolve their patients’ conditions.","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":"49565092","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}
M. Michel, N. Lucke-Wold, M. R. Hosseini, E. Panther, Ramya Reddy, B. Lucke-Wold
Primary CNS lymphoma presents unique challenges for the clinician. New evidence has emerged regarding the appropriate workup, management considerations, and treatment. In this paper, we highlight the clinical presentations, disease prognosis, and management considerations. We place specific emphasis on the decision tree for immunocompetent and immunocompromised. The key imaging characteristics are discussed. Once biopsy prove lymphoma, important management considerations are addressed. We highlight need for follow up and role for surgery verse radiation. Finally, we present emerging treatment options and pre-clinical work that will be making its way through the pipeline. This up-to-date review will serve as a key learning tool for clinicians and researchers
{"title":"CNS Lymphoma: Clinical Pearls and Management Considerations","authors":"M. Michel, N. Lucke-Wold, M. R. Hosseini, E. Panther, Ramya Reddy, B. Lucke-Wold","doi":"10.31579/2692-9406/121","DOIUrl":"https://doi.org/10.31579/2692-9406/121","url":null,"abstract":"Primary CNS lymphoma presents unique challenges for the clinician. New evidence has emerged regarding the appropriate workup, management considerations, and treatment. In this paper, we highlight the clinical presentations, disease prognosis, and management considerations. We place specific emphasis on the decision tree for immunocompetent and immunocompromised. The key imaging characteristics are discussed. Once biopsy prove lymphoma, important management considerations are addressed. We highlight need for follow up and role for surgery verse radiation. Finally, we present emerging treatment options and pre-clinical work that will be making its way through the pipeline. This up-to-date review will serve as a key learning tool for clinicians and researchers","PeriodicalId":72392,"journal":{"name":"Biomedical research and clinical reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46466988","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}
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.
{"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}
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