Thiamine responsive megaloblastic anemia(TRMA),also known as Roger’s syndrome,is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carr...Thiamine responsive megaloblastic anemia(TRMA),also known as Roger’s syndrome,is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carrier protein.This syndrome manifests as the classic triad of megaloblastic anemia,sensorineural hearing loss,and diabetes mellitus.Here,we present the case of a one-and-a-half-year-old male infant born to non-consanguineous parents in India,a region where TRMA cases are seldom reported.At five months of age,the child exhibited the characteristic symptoms,prompting immediate treatment involving thiamine therapy,insulin administration,and blood transfusions.Notably,the child exhibited significant improvement in all aspects except for hearing loss,which conventional hearing aids failed to alleviate.However,following a cochlear implant procedure conducted within a few months,the child regained hearing abilities.This case underscores the importance of early recognition and intervention in the form of cochlear implant,demonstrating the potential to reverse TRMA symptoms and provide affected individuals with a substantially improved quality of life.展开更多
Processing and analyzing of medical images is one of the priority research areas. At the same time, the processing of images of cells occupies a special place. This is due to the fact that such studies allow for a com...Processing and analyzing of medical images is one of the priority research areas. At the same time, the processing of images of cells occupies a special place. This is due to the fact that such studies allow for a comprehensive diagnosis of the state of human health, identify and prevent the development of diseases in the early stages. We investigate the effectiveness of using wavelet analysis in color models, taking into account the preliminary change in the contrast of the input image. We consider the HSV color model and the image contrast modification procedure, which is based on the histogram change in the specified range with gamma correction. As a criterion for choosing parameters for changing the contrast of the image, we consider the entropy of the image. We also showed the advisability of using the value of the entropy index for the subsequent improvement of image analysis based on the wavelet ideology. We examined the general sequence of action for the analysis of image of megaloblastic anemia cells. This sequence is based on the choice of parameters for changing the contrast of the image and application of wavelet ideology.展开更多
Megaloblastic anemias are a group of hematologic disorders in which abnormal DNA synthesis causes blood and bone marrow disorders. This type of anemias occurs as a result of folic acid deficiency or impaired vitamin B...Megaloblastic anemias are a group of hematologic disorders in which abnormal DNA synthesis causes blood and bone marrow disorders. This type of anemias occurs as a result of folic acid deficiency or impaired vitamin B12 absorption. The prevalence of this type of anemia is highly variable worldwide and megaloblastic anemia caused by lack of vitamin B12 (cyanocobalamin) is rare during pregnancy [1]. In this case report, we report follow-ups conducted for a pregnant 33-year-old woman, G2, P1, with a history of previous natural childbirth who attended Kamali Hospital due to labor pain associated with severe thrombocytopenia. Although this woman was injected 10 units of PLT and also vitamin B12 (cyanocobalamin), folic acid and corticosteroids in the course of treatment, her platelet level has not yet returned to normal levels after 6 months and she is still being treated.展开更多
Megaloblastic pernicious anemia is an autoimmune disorder, considered rare in African context. The objective of this study was to report four clinical cases collected at the CHUR/OHG, and to review the literature. The...Megaloblastic pernicious anemia is an autoimmune disorder, considered rare in African context. The objective of this study was to report four clinical cases collected at the CHUR/OHG, and to review the literature. The study population consisted of two men and two women. The clinical manifestations were mainly neurological and hematological. The neurological signs were mainly paresthesia. One patient presented memory problems. On the biological level, macrocytic anemia and vitamin B12 deficiency were reported in two cases prior to treatment while the other two without serological assay of vitamin B12 were put on trial treatment. Anti-intrinsic factor antibodies were positive in three patients. The Schilling test was not used. Upper gastrointestinal endoscopy revealed atrophic fundic gastritis in all four patients who received treatment through intramuscular injection of hydroxocobalamin (vitamin B12). The evolution was favorable after one month of treatment in all cases. The literature review is dominated by clinical case reports, the largest cohorts of which are from the Maghreb.展开更多
目的:探讨平均红细胞体积(m ean corpuscu lar volum e,MCV)及红细胞体积分布宽度(red b lood cell volum e d istribution w idth,RDW)对地中海贫血(简称地贫,MD)和巨幼细胞性贫血(简称巨幼贫血,MA)诊断的临床价值。方法:利用血细胞自...目的:探讨平均红细胞体积(m ean corpuscu lar volum e,MCV)及红细胞体积分布宽度(red b lood cell volum e d istribution w idth,RDW)对地中海贫血(简称地贫,MD)和巨幼细胞性贫血(简称巨幼贫血,MA)诊断的临床价值。方法:利用血细胞自动分析仪测定不同病因的贫血患者的MCV和RDW值。结果:MD患者,MCV降低,RDW升高,且α-地贫与β-地贫无差异;MA患者,MCV和RDW升高;急性失血性贫血和再生障碍性贫血(ap lastic anem ia,AA)患者,MCV和RDW正常。结论:MCV和RDW红细胞参数,可作为贫血病因诊断及鉴别诊断的参考线索,对地贫和巨幼贫血的诊断和治疗有一定的指导意义。展开更多
文摘Thiamine responsive megaloblastic anemia(TRMA),also known as Roger’s syndrome,is an exceptionally rare autosomal recessive disorder stemming from mutations in the SLC19A2 gene responsible for encoding a thiamine carrier protein.This syndrome manifests as the classic triad of megaloblastic anemia,sensorineural hearing loss,and diabetes mellitus.Here,we present the case of a one-and-a-half-year-old male infant born to non-consanguineous parents in India,a region where TRMA cases are seldom reported.At five months of age,the child exhibited the characteristic symptoms,prompting immediate treatment involving thiamine therapy,insulin administration,and blood transfusions.Notably,the child exhibited significant improvement in all aspects except for hearing loss,which conventional hearing aids failed to alleviate.However,following a cochlear implant procedure conducted within a few months,the child regained hearing abilities.This case underscores the importance of early recognition and intervention in the form of cochlear implant,demonstrating the potential to reverse TRMA symptoms and provide affected individuals with a substantially improved quality of life.
文摘Processing and analyzing of medical images is one of the priority research areas. At the same time, the processing of images of cells occupies a special place. This is due to the fact that such studies allow for a comprehensive diagnosis of the state of human health, identify and prevent the development of diseases in the early stages. We investigate the effectiveness of using wavelet analysis in color models, taking into account the preliminary change in the contrast of the input image. We consider the HSV color model and the image contrast modification procedure, which is based on the histogram change in the specified range with gamma correction. As a criterion for choosing parameters for changing the contrast of the image, we consider the entropy of the image. We also showed the advisability of using the value of the entropy index for the subsequent improvement of image analysis based on the wavelet ideology. We examined the general sequence of action for the analysis of image of megaloblastic anemia cells. This sequence is based on the choice of parameters for changing the contrast of the image and application of wavelet ideology.
文摘Megaloblastic anemias are a group of hematologic disorders in which abnormal DNA synthesis causes blood and bone marrow disorders. This type of anemias occurs as a result of folic acid deficiency or impaired vitamin B12 absorption. The prevalence of this type of anemia is highly variable worldwide and megaloblastic anemia caused by lack of vitamin B12 (cyanocobalamin) is rare during pregnancy [1]. In this case report, we report follow-ups conducted for a pregnant 33-year-old woman, G2, P1, with a history of previous natural childbirth who attended Kamali Hospital due to labor pain associated with severe thrombocytopenia. Although this woman was injected 10 units of PLT and also vitamin B12 (cyanocobalamin), folic acid and corticosteroids in the course of treatment, her platelet level has not yet returned to normal levels after 6 months and she is still being treated.
文摘Megaloblastic pernicious anemia is an autoimmune disorder, considered rare in African context. The objective of this study was to report four clinical cases collected at the CHUR/OHG, and to review the literature. The study population consisted of two men and two women. The clinical manifestations were mainly neurological and hematological. The neurological signs were mainly paresthesia. One patient presented memory problems. On the biological level, macrocytic anemia and vitamin B12 deficiency were reported in two cases prior to treatment while the other two without serological assay of vitamin B12 were put on trial treatment. Anti-intrinsic factor antibodies were positive in three patients. The Schilling test was not used. Upper gastrointestinal endoscopy revealed atrophic fundic gastritis in all four patients who received treatment through intramuscular injection of hydroxocobalamin (vitamin B12). The evolution was favorable after one month of treatment in all cases. The literature review is dominated by clinical case reports, the largest cohorts of which are from the Maghreb.
文摘目的:探讨平均红细胞体积(m ean corpuscu lar volum e,MCV)及红细胞体积分布宽度(red b lood cell volum e d istribution w idth,RDW)对地中海贫血(简称地贫,MD)和巨幼细胞性贫血(简称巨幼贫血,MA)诊断的临床价值。方法:利用血细胞自动分析仪测定不同病因的贫血患者的MCV和RDW值。结果:MD患者,MCV降低,RDW升高,且α-地贫与β-地贫无差异;MA患者,MCV和RDW升高;急性失血性贫血和再生障碍性贫血(ap lastic anem ia,AA)患者,MCV和RDW正常。结论:MCV和RDW红细胞参数,可作为贫血病因诊断及鉴别诊断的参考线索,对地贫和巨幼贫血的诊断和治疗有一定的指导意义。
