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Sickle cell in Native American's

A F Nascimento, J S Oliveira, J C Silva Junior, A A L Barbosa
The β(s) mutation is responsible for the most aggressive form of sickle cell disease, has a predominantly African origin, and arrived in Brazil through the slave trade. However, the Brazilian population is highly miscegenated, underscoring the importance of ancestry-informative markers (AIMs) for the identification of the genetic structure of a population. In this study, we have estimated the genetic contributions of various ethnicities in individuals with sickle cell disease in the microregion of Jequié, Bahia, in Brazil, by using AIMs, and compared the findings to those from a phenotypic characterization...
March 31, 2016: Genetics and Molecular Research: GMR
Greice Lemos Cardoso, Isabela Guerreiro Diniz, Aylla Núbia Lima Martins da Silva, Daniele Almeida Cunha, Josivaldo Soares da Silva Junior, Camila Tavares Carvalho Uchôa, Sidney Emanuel Batista dos Santos, Saide Maria Sarmento Trindade, Maria do Socorro de Oliveira Cardoso, João Farias Guerreiro
Increased levels of fetal hemoglobin (HbF, α2γ2) may reduce sickle cell anemia severity due to its ability to inhibit HbS polymerization and also reduce the mean corpuscular HbS concentration. We have investigated the influence of three known major loci on the HbF trait (HBG2, rs748214; BCL11A, rs4671393; and HBS1L-MYB, rs28384513, rs489544 and rs9399137) and HbF levels in SCA patients from the State of Pará, Northern Brazil. Our results showed that high levels of HbF were primarily influenced by alleles of BCL11A (rs4671393) and HMIP (rs4895441) loci, and to a lesser extent by rs748214 Gγ-globin (HBG2) gene promoter...
December 2014: Blood Cells, Molecules & Diseases
Yamila Domínguez, Camilo Zurita, Diego Calvopiña, Jacqueline Villacís, Marcelo Mora
BACKGROUND: Hemoglobinopathies are among the most studied and frequent pathologies. These genetic disorders are considered a very important health care threat in many tropical countries. Ecuador is a tropical Latin-American country with an important presence of afro-descendants (7.2%). Afro-descendants are among the ethnic groups with higher frequency of hemoglobinopathies reported. Ambuqui is a region within the Imbabura province with an important presence of afro-descendants (>50%)...
2013: BMC Research Notes
Ying Wang, Joseph Kennedy, Michele Caggana, Regina Zimmerman, Sanil Thomas, John Berninger, Katharine Harris, Nancy S Green, Suzette Oyeku, Mary Hulihan, Althea M Grant, Scott D Grosse
PURPOSE: Sickle cell disease is estimated to occur in 1:300-400 African-American births, with higher rates among immigrants from Africa and the Caribbean, and is less common among Hispanic births. This study determined sickle cell disease incidence among New York State newborns stratified by maternal race/ethnicity and nativity. METHODS: Newborns with confirmed sickle cell disease born to New York State residents were identified by the New York State newborn screening program for the years 2000-2008 and matched to birth records to obtain birth and maternal information...
March 2013: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Jean-Benoît Arlet, Jean-Antoine Ribeil, Gilles Chatellier, Dominique Eladari, Sophie De Seigneux, Jean-Claude Souberbielle, Gérard Friedlander, Marianne de Montalembert, Jacques Pouchot, Dominique Prié, Marie Courbebaisse
BACKGROUND: Sickle cell disease (SCD) leads to tissue hypoxia resulting in chronic organ dysfunction including SCD associated nephropathy. The goal of our study was to determine the best equation to estimate glomerular filtration rate (GFR) in SCD adult patients. METHODS: We conducted a prospective observational cohort study. Since 2007, all adult SCD patients in steady state, followed in two medical departments, have had their GFR measured using iohexol plasma clearance (gold standard)...
2012: BMC Nephrology
Darrin J Lee, David S Liebeskind
BACKGROUND AND PURPOSE: Moyamoya disease has been classically described by the Asian experience, yet clinical aspects of moyamoya phenomena in the United States remain vastly undefined. The multifocal occlusive arterial disorder may be linked with numerous conditions; however, later stages of this syndrome share common vascular pathophysiology. This study is aimed at characterizing inpatient moyamoya cases in the United States over a broad time span. METHODS: A comprehensive analysis of the Nationwide Inpatient Sample of the Healthcare Cost and Utilization Project (Releases 1-13, 1988-2004) based on ICD-9-CM code 437...
2011: Frontiers in Neurology
Raffaella Colombatti, Giorgio Meneghetti, Mario Ermani, Marta Pierobon, Laura Sainati
BACKGROUND: Stroke is a serious complication of sickle cell disease (SCD) in children. Transcranic Doppler (TCD) is a well-established predictor of future cerebrovascular symptoms: a blood flow velocity >200 cm/sec in the Middle Cerebral Artery (MCA) correlates with a high risk of stroke in cohorts of African-american HbS/HbS patients. In North-East Italy the recent increase in SCD patients is mainly due to immigration from Africa. A comprehensive care program for children with SCD was established in our Center since 2004, but a wide and routine screening for Primary stroke prevention needs to be developed...
2009: Italian Journal of Pediatrics
Rosalyn Y Beene-Harris, Catharine Wang, Janice V Bach
OBJECTIVE: In efforts to prepare for implications of genomic advances, a needs assessment was undertaken from 2000 to 2002 by the Michigan Department of Community Health to develop a comprehensive state plan for genetic services. This paper reports on the access barriers to genetic services identified from focus groups conducted with members of the community and genetic service providers. METHODS: Included in this study were the following five target groups: a sickle cell anemia parent support group, a Native American student group, parents of children with birth defects or other special health care needs, adults with genetic conditions, and genetic service providers from the statewide genetic counselors' association...
2007: Community Genetics
Tasbirul Islam, Md Haris Umer Usman, Fahd Rahman
OBJECTIVE: Sickle cell anemia (SCA) is the most common inherited blood disorder. Sickle cell crisis is characterized by episodes of pain, chronic hemolytic anemia and severe infections, usually beginning in early childhood. Sickle cell disease primarily affects those of African descent and Hispanics of Caribbean ancestry, but the trait has also been found in those with Middle Eastern, Indian, Latin American, Native American, and Mediterranean heritage. Recent studies indicate that more than 12,500 people in England have sickle cell disorders...
October 2005: Primary Care Respiratory Journal: Journal of the General Practice Airways Group
Gary D Overturf
Streptococcus pneumoniae is the most frequent cause of invasive bacterial infection in children younger than 2 years of age, reaching a peak incidence at 6 to 12 months of age. Pneumococci also cause many cases of pneumonia, sinusitis, and otitis media. Incidence rates of invasive infection in children with sickle cell disease, acquired or congenital splenectomy, or human immunodeficiency virus infection are 20- to 100-fold higher than are those of healthy children during the first 5 years of life. Other healthy children, such as those of American Indian, Native Alaskan, or African American descent, also have high rates of invasive infection, and those children enrolled in out-of-home care may have modestly increased risks...
July 2002: Seminars in Pediatric Infectious Diseases
Vinita B Pai, Catherine A Heyneman, John Erramouspe
OBJECTIVE: To review the immunogenicity, efficacy, and safety of the heptavalent conjugated pneumococcal vaccine (PCV7). DATA SOURCES: A MEDLINE search (1993-August 2001) of research limited to humans published in the English language was conducted. STUDY SELECTION: Findings from randomized, controlled, multicenter trials were reviewed. Literature regarding epidemiology, control, and treatment of invasive pneumococcal diseases in different populations and the Advisory Committee on Immunization Practices recommendations were also reviewed...
September 2002: Annals of Pharmacotherapy
Andrew S Ross, Fiona Graeme-Cook, A Benedict Cosimi, Raymond T Chung
Sickle cell intrahepatic cholestasis is a potentially fatal end-organ complication of sickle cell anemia. Renal involvement in sickle cell anemia is common, and in some cases, can present as acute renal failure. Although renal transplants have been performed in patients with sickle cell anemia since the late 1960s and a number of liver transplants have been recently performed for these complications, there has not been experience with dual organ transplantation for sickle cell anemia-related complications. We describe the case of a patient with sickle cell anemia who underwent successful combined liver and kidney transplantation after the development of acute sickle cell intrahepatic cholestasis and renal failure requiring continuous venovenous hemodialysis...
February 27, 2002: Transplantation
(no author information available yet)
In February 2000, a 7-valent pneumococcal polysaccharide-protein conjugate vaccine (Prevnar, marketed by Wyeth Lederle Vaccines) was licensed for use among infants and young children. CDC's Advisory Committee on Immunization Practices (ACIP) recommends that the vaccine be used for all children aged 2-23 months and for children aged 24-59 months who are at increased risk for pneumococcal disease (e.g., children with sickle cell disease, human immunodeficiency virus infection, and other immunocompromising or chronic medical conditions)...
October 6, 2000: MMWR. Recommendations and Reports: Morbidity and Mortality Weekly Report. Recommendations and Reports
G D Overturf
Pneumococcal infections are the most common invasive bacterial infections in children in the United States. The incidence of invasive pneumococcal infections peaks in children younger than 2 years, reaching rates of 228/100,000 in children 6 to 12 months old. Children with functional or anatomic asplenia (including sickle cell disease [SCD]) and children with human immunodeficiency virus infection have pneumococcal infection rates 20- to 100-fold higher than those of healthy children during the first 5 years of life...
August 2000: Pediatrics
(no author information available yet)
Heptavalent pneumococcal conjugate vaccine (PCV7) is recommended for universal use in children 23 months and younger, to be given concurrently with other recommended childhood vaccines at 2, 4, 6, and 12 to 15 months of age. For children 7 to 23 months old who have not received previous doses of PCV7, administration of a reduced number of doses is recommended. Two doses of PCV7 are recommended for children 24 to 59 months old at high risk of invasive pneumococcal infection-including children with functional, anatomic, or congenital asplenia; infection with human immunodeficiency virus; and other predisposing conditions-who have not been immunized previously with PCV7...
August 2000: Pediatrics
Z R Rogers, D R Powars, T R Kinney, W D Williams, W A Schroeder
Of 18 nonblack patients with sickle cell disease, 14 had sickle cell anemia, 2 had hemoglobin SC disease, and 2 had hemoglobin S-beta o-thalassemia. The beta s gene cluster haplotypes that were determined in 7 patients were of African origin and were identified as Central African Republic, Central African Republic minor II, Benin, and Senegal. The haplotype Central African Republic minor II was present on the beta o-thalassemia chromosome in 2 patients. None of 10 patients whose alpha-gene status was determined had alpha-thalassemia-2...
May 26, 1989: JAMA: the Journal of the American Medical Association
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