Introduction: Thalassemia disorder is a genetic disease that causes the blood to have less hemoglobin than normal, the main requirement to control thalassemia’s propagation is to educate the entire society. Methodolo...Introduction: Thalassemia disorder is a genetic disease that causes the blood to have less hemoglobin than normal, the main requirement to control thalassemia’s propagation is to educate the entire society. Methodology: A descriptive survey was taken to evaluate the awareness of thalassemia among Saudi Arabia’s society, with a sample size of 384. Results: The results were written in frequencies, and it shows that most of the participants were unaware and lacking information on thalassemia syndrome. Discussion: The results of this study provide valuable insights into the awareness of thalassemia in Saudi Arabia and highlight the need to raise awareness of this disease. Conclusion: This study is not comprehensive because the survey was not disrupted evenly, but it can give us an overview of the awareness of thalassemia in Saudi Arabia, and it shows that most of the participants were unaware and lacked information on thalassemia.展开更多
溶质载体家族4(solute carrier family 4,SLC4)包括10个成员(SLC4A1~5,SLC4A7~11),分别表达于人体内多个组织,不同成员在其底物依赖、电荷转运化学计量和组织表达等方面有所不同,其共同功能是参与多种离子的跨膜交换,涉及许多重要的生...溶质载体家族4(solute carrier family 4,SLC4)包括10个成员(SLC4A1~5,SLC4A7~11),分别表达于人体内多个组织,不同成员在其底物依赖、电荷转运化学计量和组织表达等方面有所不同,其共同功能是参与多种离子的跨膜交换,涉及许多重要的生理过程,如红细胞CO_(2)运输、细胞体积和细胞内pH调节等。近几年,很多研究发现SLC4家族成员与人类疾病发生相关,当SLC4家族成员发生基因突变时,机体会发生一系列功能障碍进而导致一些疾病发生。本综述对SLC4家族各成员的结构和功能以及疾病相关性的研究进展进行了总结和分析,以期为此类疾病的防治提供参考。展开更多
We report a 3-year-old girl suffering from RothmundThomson Syndrome (RTS). The patient at birth had multiplex anomalies: poikilodermatous rash, sceletal abnormalities: palatoschisis, micrognathi, aplasia radii, hypopl...We report a 3-year-old girl suffering from RothmundThomson Syndrome (RTS). The patient at birth had multiplex anomalies: poikilodermatous rash, sceletal abnormalities: palatoschisis, micrognathi, aplasia radii, hypoplastic right and left thenar and thumbs, pesequinus on both site, ectopy renis. The patient in the later ages was detected dental malformation, facial dysmorfism. At the age 3, she had lasion in her muscle. After biopsy, histological examination showed cutan T-cell lymphoma. The patient is the first case who had cutan T-cell lymphoma associated with RTS in this young age.展开更多
AIM: To determine the parental transmission of diabetes mellitus (DM) and evaluate its influence on the clinical characteristics. METHODS: This was a cross sectional study. The survey was carried out in urban and semi...AIM: To determine the parental transmission of diabetes mellitus (DM) and evaluate its influence on the clinical characteristics. METHODS: This was a cross sectional study. The survey was carried out in urban and semi-urban primary health care centers. Of the 2400 registered with diagnosed diabetes, 1980 agreed and gave their consent to take part in this study, thus giving a response rate of 82.5%. Face to face interviews were conducted using a structured questionnaire followed by laboratory tests. DM was defined according to the World Health Organization expert group. A trained nurse performedphysical examinations and measurements. RESULTS: Of the study population, 72.9% reported a family history of DM. Family history of DM was significantly higher in females (54.2%; P = 0.04) and in the age group below 30 years (24%; P < 0.001). The prevalence of diabetes was higher among patients with a diabetic mother (25.4% vs 22.1%) and maternal aunts/uncles (31.2% vs 22.2%) compared to patients with a diabetic father and paternal aunts/ uncles. Family history of DM was higher in patients of consanguineous parents (38.5%) than those of non-consanguineous parents (30.2%). The development of type 2 diabetes mellitus (T2DM) complications was higher in patients with either a paternal or maternal history of DM than in those without. No significant difference was observed in the metabolic characteristics of patients with/without family history of DM except for hypertension. Complications were higher in diabetic patients with a family history of DM. CONCLUSION: The present study found a significant maternal effect in transmission of T2DM. Family history is associated with the increased incidence of diabetes.展开更多
文摘Introduction: Thalassemia disorder is a genetic disease that causes the blood to have less hemoglobin than normal, the main requirement to control thalassemia’s propagation is to educate the entire society. Methodology: A descriptive survey was taken to evaluate the awareness of thalassemia among Saudi Arabia’s society, with a sample size of 384. Results: The results were written in frequencies, and it shows that most of the participants were unaware and lacking information on thalassemia syndrome. Discussion: The results of this study provide valuable insights into the awareness of thalassemia in Saudi Arabia and highlight the need to raise awareness of this disease. Conclusion: This study is not comprehensive because the survey was not disrupted evenly, but it can give us an overview of the awareness of thalassemia in Saudi Arabia, and it shows that most of the participants were unaware and lacked information on thalassemia.
基金supported by the National Natural Science Foundation of China(No.81974145)。
文摘溶质载体家族4(solute carrier family 4,SLC4)包括10个成员(SLC4A1~5,SLC4A7~11),分别表达于人体内多个组织,不同成员在其底物依赖、电荷转运化学计量和组织表达等方面有所不同,其共同功能是参与多种离子的跨膜交换,涉及许多重要的生理过程,如红细胞CO_(2)运输、细胞体积和细胞内pH调节等。近几年,很多研究发现SLC4家族成员与人类疾病发生相关,当SLC4家族成员发生基因突变时,机体会发生一系列功能障碍进而导致一些疾病发生。本综述对SLC4家族各成员的结构和功能以及疾病相关性的研究进展进行了总结和分析,以期为此类疾病的防治提供参考。
文摘We report a 3-year-old girl suffering from RothmundThomson Syndrome (RTS). The patient at birth had multiplex anomalies: poikilodermatous rash, sceletal abnormalities: palatoschisis, micrognathi, aplasia radii, hypoplastic right and left thenar and thumbs, pesequinus on both site, ectopy renis. The patient in the later ages was detected dental malformation, facial dysmorfism. At the age 3, she had lasion in her muscle. After biopsy, histological examination showed cutan T-cell lymphoma. The patient is the first case who had cutan T-cell lymphoma associated with RTS in this young age.
基金Supported by Qatar Diabetic Association and Qatar National Research Fund, QNRF UREP 07-099-3-023
文摘AIM: To determine the parental transmission of diabetes mellitus (DM) and evaluate its influence on the clinical characteristics. METHODS: This was a cross sectional study. The survey was carried out in urban and semi-urban primary health care centers. Of the 2400 registered with diagnosed diabetes, 1980 agreed and gave their consent to take part in this study, thus giving a response rate of 82.5%. Face to face interviews were conducted using a structured questionnaire followed by laboratory tests. DM was defined according to the World Health Organization expert group. A trained nurse performedphysical examinations and measurements. RESULTS: Of the study population, 72.9% reported a family history of DM. Family history of DM was significantly higher in females (54.2%; P = 0.04) and in the age group below 30 years (24%; P < 0.001). The prevalence of diabetes was higher among patients with a diabetic mother (25.4% vs 22.1%) and maternal aunts/uncles (31.2% vs 22.2%) compared to patients with a diabetic father and paternal aunts/ uncles. Family history of DM was higher in patients of consanguineous parents (38.5%) than those of non-consanguineous parents (30.2%). The development of type 2 diabetes mellitus (T2DM) complications was higher in patients with either a paternal or maternal history of DM than in those without. No significant difference was observed in the metabolic characteristics of patients with/without family history of DM except for hypertension. Complications were higher in diabetic patients with a family history of DM. CONCLUSION: The present study found a significant maternal effect in transmission of T2DM. Family history is associated with the increased incidence of diabetes.
