• Title/Summary/Keyword: sickle cell disease

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MicroRNAs in Human Diseases: From Lung, Liver and Kidney Diseases to Infectious Disease, Sickle Cell Disease and Endometrium Disease

  • Ha, Tai-You
    • IMMUNE NETWORK
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    • v.11 no.6
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    • pp.309-323
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    • 2011
  • MicroRNAs (miRNAs) are a class of naturally occurring small non-coding RNAs of about 22 nucleotides that have recently emerged as important regulators of gene expression at the posttranscriptional level. Recent studies provided clear evidence that microRNAs are abundant in the lung, liver and kidney and modulate a diverse spectrum of their functions. Moreover, a large number of studies have reported links between alterations of miRNA homeostasis and pathological conditions such as infectious diseases, sickle cell disease and endometrium diseases as well as lung, liver and kidney diseases. As a consequence of extensive participation of miRNAs in normal functions, alteration and/or abnormalities in miRNAs should have importance in human diseases. Beside their important roles in patterning and development, miRNAs also orchestrated responses to pathogen infections. Particularly, emerging evidence indicates that viruses use their own miRNAs to manipulate both cellular and viral gene expression. Furthermore, viral infection can exert a profound impact on the host cellular miRNA expression profile, and several RNA viruses have been reported to interact directly with cellular miRNAs and/or to use these miRNAs to augment their replication potential. Here I briefly summarize the newly discovered roles of miRNAs in various human diseases including infectious diseases, sickle cell disease and enodmetrium diseases as well as lung, liver and kidney diseases.

Free Tissue Transfer in Sickle Cell Disease: A Case Report and Systematic Review

  • Anne Huang;Ronak A. Patel;Lawrence J. Gottlieb
    • Archives of Plastic Surgery
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    • v.50 no.3
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    • pp.315-324
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    • 2023
  • Hemoglobinopathies such as sickle cell disease (SCD) are traditionally considered a relative contraindication to free tissue transfer, due to concerns that erythrocyte sickling will increase the risk of microvascular thrombosis and flap failure. This article describes a case report with the successful use of free tissue transfer in a patient with SCD and provides a systematic literature review on free tissue transfer in SCD. A retrospective chart review was performed of a patient with SCD who underwent free tissue transfer at the authors' institution. A systematic literature review using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines was performed using the keywords "free tissue transfer," "free flap," or "microsurgery" and "sickle cell" on PubMed, Ovid/Medline, and Scopus. A 29-year-old male with delayed presentation of an electrical burn to the face and scalp underwent wound closure with a free anterolateral thigh flap. Key management principles included red blood cell transfusion to keep hemoglobin S under 30% and hemoglobin greater than 10 g/dL, maintenance of hydration, normothermia, adequate analgesia, and postoperative anticoagulation. Systematic literature review identified 7 articles describing 13 cases of free tissue transfer in 10 patients with SCD, with combined complete free flap success in 10 of the 13 flaps. Free tissue transfer can be successfully performed in patients with SCD. However, evidence on the optimal management of this unique patient population in the perioperative period after free tissue transfer is limited to case reports in the literature.

L- Arginine as a dietary supplement and its role in protection from disease and metabolism

  • BEERAM, Eswari
    • The Korean Journal of Food & Health Convergence
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    • v.5 no.4
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    • pp.25-28
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    • 2019
  • Now a days problem in health has become common. So, instead of curing them, prevention through dietary supplements has proven to be useful. In the case of patients who have already developed the disease atleast relieving pain and suffer is a challenging thing. In this context L- arginine is doing better compared to other essential aminoacids up to some extent. Arginine was found to reduce the pain associated with pulmonary hypertension foun to be associated with sickle cell anaemia. It also reduces the reperfusion injury after ischemia, trauma and shock. Some of the drugs with L-arginine as component are under clinical trials and hope to be available in the market soon. Severe preeclampsia is characterised by headaches, blurred vision, and inability to have high photovision, nausea and vomiting. L-Arginine along with Vit C and E are given as medical food to the patients and decrease in condition symptoms is the project now under phase II clinical trial. However the role of arginine in ameolirating preeclampsia symptoms is uncertain except with that of hypertension. Arginine is used to treat pain in sickle cell anaemia, lung damage, reperfusion injury, Trauma and shock but should be excluded during sepsis.

Effectiveness of premarital screening program for thalassemia and sickle cell disorders in Ras Al Khaimah, United Arab Emirates

  • Salama, Rasha Aziz Attia;Saleh, Abeer Kamal
    • Journal of Genetic Medicine
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    • v.13 no.1
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    • pp.26-30
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    • 2016
  • Purpose: Genetic disorders can be prevented by basic public health measures and activities that focus primarily on education and approaches in Primary Health Care. Premarital screening is one such approach that can identify asymptomatic carriers of hemoglobinopathies and provide genetic counseling to couples for a healthy reproductive life. This study aimed to estimate the prevalence of beta thalassemia and sickle cell disorders in the adult population screened as a part of the United Arab Emirates Premarital Screening Program and to measure the effectiveness of the program in decreasing high-risk marriages in Ras Al Khaimah (RAK). Materials and Methods: A retrospective, population-based study was conducted at the RAK Primary Health Care Center, where the National Premarital Screening Program is implemented. The study included data collected from the premarital screening records of all couples who had applied for a marriage license during 2008-2015. Results: Of the 17,826 individuals screened during the studied period, 4.02% (717) were diagnosed as positive for hemoglobinopathies. The prevalence of beta thalassemia and sickle cell disorders among the total study population was 2.98% and 1.05%, respectively. The hemoglobinopathy trait was more prevalent than the disease. Among these 8,913 couples who were issued certificates for compatibility based on screening tests, 28 (0.31%) couples were declared high-risk (unmatched). Seventy percent of these unmatched couples reported consanguineous marriages. Conclusion: The program was successful in achieving its objective of identifying high-risk marriages. In spite of the counseling, however, all of the high-risk couples still married each other.

An Ecological Approach to Nutritional Research (영양학 연구의 생택학적 접근)

  • 문수재
    • Journal of Nutrition and Health
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    • v.34 no.1
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    • pp.98-111
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    • 2001
  • The article demonstrates a method of studying human health and nutrition by applying a multi-disciplinary approach and examines how humans developed and survived by adjusting to their environment. This process involves physiological, cultural and genetic adaptation both independently and interactively. This study postulates that a sound human health may be the result of balance between nutrition and environmental conditions. It is noted that there is a positive correlation between malaria and fava bean intake, and sickle cell anemia and cassava intake. It is also suggested that the difference in disease structure in soybean and non-soybean consumption cultures can be explained by an ecological approach to studying nutrition. This study further suggest that the relationship between nutrition and socio-cultural system. epidmiological study of nutrition and cultural environment nutrition and conceptual characteristics, nutrition and food intake pattern, nutrition and health sociological functions and the physioloical, cultural and genetic adaptation can all be stimulating research subjects to be studied form and ecological point of view. This article also includes the results from a series of ecological studies conducted by the author investigating the relationship between nutritional status of Korean breast-feeding mothers and the composition of the human milk and also the Vitamin D status of Korean and their lifestyle. (Korean J Nutrition 34(1):98-111, 2001)

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Review of pediatric cerebrovascular accident in terms of insurance medicine (소아뇌졸중의 보험의학적 고찰)

  • Ahn, Gye-Hoon
    • The Journal of the Korean life insurance medical association
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    • v.29 no.2
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    • pp.29-32
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    • 2010
  • Moyamoya disease (MMD) is a progressive occlusive disease of the cerebral vasculature with particular involvement of the circle of Willis and the arteries that feed it. MMD is one of cerebrovacular accident,which is treated with sugical maeuver in pediatic neurosurgery. Moyamoya (ie, Japanese for "puff of smoke") characterizes the appearance on angiography of abnormal vascular collateral networks that develop adjacent to the stenotic vessels. The steno-occlusive areas are usually bilateral, but unilateral involvement does not exclude the diagnosis. The exact etiology of moyamoya disease is unknown. Some genetic predisposition is apparent because it is familial 10% of the time. The disease may be hereditary and multifactorial. It may occur by itself in a previously healthy individual. However, many disease states have been reported in association with moyamoya disease, including the following: 1) Immunological - Graves disease/thyrotoxicosis 2) Infections - Leptospirosis and tuberculosis 3) Hematologic disorders - Aplastic anemia, Fanconi anemia, sickle cell anemia, and lupus 4) Congenital syndromes - Apert syndrome, Down syndrome, Marfan syndrome, tuberous sclerosis, Turner syndrome, von Recklinghausen disease, and Hirschsprung disease 5) Vascular diseases - Atherosclerotic disease, coarctation of the aorta and fibromuscular dysplasia, 6)cranial trauma, radiation injury, parasellar tumors, and hypertension etc. These associations may not necessarily be causative but do warrant consideration due to impact on treatment.(Mainly neurosurgical operation.) The incidence of moyamoya disease is highest in Japan. The prevalence of MMD is 1 person per 100,000 population. The prevalence and incidence of moyamoya disease in Japan has been reported to be 3.16 cases and 0.35 case per 100,000 people, respectively. With regard to sex, the female-to-male ratio is 1.4:1. A bimodal peak of incidence is noted, with symptoms occurring either in the first decade(5-10yr) or in the third and fourth decades (30-40yr)of life. Mortality rates of moyamoya disease are approximately 10% in adults and 4.3% in children. Death is usually from hemorrhage. In aspect of life insurance, MR is 1700%, EDR is 16 per 1000 persons. Children and adults with moyamoya disease (MMD) may have different clinical presentations. The symptoms and clinical course vary widely from asymptomatic to transient events to severe neurologic deficits. Adults experience hemorrhage more commonly; cerebral ischemic events are more common in children. Children may have hemiparesis, monoparesis, sensory impairment, involuntary movements, headaches, dizziness, or seizures. Mental retardation or persistent neurologic deficits may be present. Adults may have symptoms and signs similar to those in children, but intraventricular, subarachnoid, or intracerebral hemorrhage of sudden onset is more common in adults. Recently increasing diagnosis of MMD with MRI, followed by surgical operation is noted. MMD needs to be considered as the "CI" state now in life insurance fields.

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Primary Sternal Osteomyelitis -A case report- (원발성 흉골 골수염 - 1예 보고-)

  • Yi In-Ho;Youn Hyo-Chul;Kim Dae-Hyun;Kim Soo-Cheol;Cho Kyu-Seok;Park Joo-Chul;Kwak Young-Tae;Kim Bum-Shik
    • Journal of Chest Surgery
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    • v.39 no.4 s.261
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    • pp.340-342
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    • 2006
  • Primary sternal osteomyelitis is a rare disease. Primary sternal osteomyelitis occurring during childhood is extremely rare; therefore, only eleven cases have been reported in the English language literatures. The predisposing factors of primary sternal osteomyelitis are malnutrition, immune deficiency, intravenous injection, blunt chest trauma, and sickle cell anemia. Drainage of pus with antibiotic therapy is the treatment of choice. We report a case of primary sternal osteomyelitis occurred in a 16-year old boy, who had no predisposing factors, with review of literatures.

Pyogenic Spondylitis Caused by Nontyphoidal Salmonella in an Immunocompetent Child (정상 면역 소아에서 발생한 비장티푸스 살모넬라 화농성 척추염)

  • Baek, Jee Yeon;Shin, Jehee;Lim, Sungmin;Kang, Ji-Man;Ahn, Jong Gyun
    • Pediatric Infection and Vaccine
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    • v.28 no.3
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    • pp.160-167
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    • 2021
  • Pyogenic spondylitis, an extremely rare complication of nontyphoidal Salmonella infection in immunocompetent children, occurs more commonly in patients with hemoglobinopathies such as sickle cell disease or in immunocompromised patients. In this study, we report a case of pyogenic spondylitis in a previously healthy 13-year-old immunocompetent adolescent, who presented with prolonged fever and right upper quadrant pain. Stool culture results comfirmed nontyphoidal Salmonella infection, and the patient was diagnosed with pyogenic spondylitis caused by nontyphoidal Salmonella based on additional imaging studies performed for evaluation of the patient's prolonged fever. This case highlights the importance of culture studies for evaluation of patients with fever of unknown origin and also the importance of detailed investigations for early detection of complications of extra-intestinal infections in patients with an unusual clinical course of salmonellosis.