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1.
Biology (Basel) ; 12(6)2023 Jun 02.
Article in English | MEDLINE | ID: mdl-37372091

ABSTRACT

Dyslipidemia is a significant risk factor for cardiovascular disease and stroke. Our recent findings showed that RCI-1502, a bioproduct derived from the muscle of the European S. pilchardus, has lipid-lowering effects in the liver and heart in high-fat diet (HFD) fed mice. In the present follow-up study, we investigated the therapeutic potential of RCI-1502 on gene expression and DNA methylation in HFD-fed mice and in patients with dyslipidemia. Using LC-MS/MS, we identified 75 proteins in RCI-1502 that are primarily involved in binding and catalytic activity and which regulate pathways implicated in cardiovascular diseases. In HFD-fed mice, RCI-1502 treatment significantly reduced the expression of cardiovascular disease-related genes, including vascular cell adhesion molecule and angiotensin. RCI-1502 also decreased DNA methylation levels, which were elevated in HFD-fed mice, to levels similar to those in control animals. Furthermore, peripheral blood leukocyte DNA from dyslipidemic patients exhibited higher DNA methylation levels than healthy individuals, suggesting a potential association with cardiovascular risk. Serum analysis also revealed that RCI-1502 treatment regulated cholesterol and triglyceride levels in patients with dyslipidemia. Our findings appear to suggest that RCI-1502 is an epigenetic modulator for the treatment of cardiovascular diseases, specifically in individuals with dyslipidemia.

2.
Genes (Basel) ; 14(2)2023 01 30.
Article in English | MEDLINE | ID: mdl-36833292

ABSTRACT

DNA methylation remains an under-recognized diagnostic biomarker for several diseases, including neurodegenerative disorders. In this study, we examined differences in global DNA methylation (5mC) levels in serum samples from patients during the initial- and the follow-up visits. Each patient underwent a blood analysis and neuropsychological assessments. The analysis of 5mC levels revealed two categories of patients; Group A who, during the follow-up, had increased 5mC levels, and Group B who had decreased 5mC levels. Patients with low Fe-, folate-, and vitamin B12- levels during the initial visit showed increased levels of 5mC after treatment when assessed during the follow-up. During the follow-up, 5mC levels in Group A patients increased after treatment for hypovitaminosis with the nutraceutical compounds Animon Complex and MineraXin Plus. 5mC levels were maintained during the follow-up in Group A patients treated for neurological disorders with the bioproducts AtreMorine and NeoBrainine. There was a positive correlation between 5mC levels and MMSE scores, and an inverse correlation between 5mC and ADAS-Cog scores. This expected correlation was observed in Group A patients only. Our study appears to indicate that 5mC has a diagnostic value as a biomarker across different pathologies.


Subject(s)
DNA Methylation , Nervous System Diseases , Humans , Biomarkers , Folic Acid
3.
Pharmacogenomics ; 24(1): 27-57, 2023 01.
Article in English | MEDLINE | ID: mdl-36628952

ABSTRACT

Anxiety and depression coexist with cognitive impairment in Alzheimer's disease along with other concomitant disorders (>60%), which require multipurpose treatments. Polypharmaceutical regimens cause drug-drug interactions and adverse drug reactions, potentially avoidable in number and severity with the implementation of pharmacogenetic procedures. The accumulation of defective variants (>30 genes per patient in more than 50% of cases) in pharmagenes (pathogenic, mechanistic, metabolic, transporter, pleiotropic) influences the therapeutic response to antidementia, antidepressant and anxiolytic drugs in polyvalent regimens. APOE, CYP1A2, CYP2C9, CYP2C19, CYP2D6, CYP2E1, CYP3A4, CYP3A5, CYP4F2, COMT, MAOB, CHAT, GSTP1, NAT2, SLC30A8, SLCO1B1, ADRA2A, ADRB2, BCHE, GABRA1, HMGCR, HTR2C, IFNL3, NBEA, UGT1A1, ABCB1, ABCC2, ABCG2, SLC6A2, SLC6A3, SLC6A4, MTHFR and OPRM1 variants affect anxiety and depression in Alzheimer's disease.


Subject(s)
Alzheimer Disease , Arylamine N-Acetyltransferase , Humans , Alzheimer Disease/drug therapy , Alzheimer Disease/genetics , Pharmacogenetics/methods , Depression/drug therapy , Depression/genetics , Cytochrome P-450 CYP2D6/genetics , Anxiety/drug therapy , Anxiety/genetics , Liver-Specific Organic Anion Transporter 1 , Carrier Proteins , Nerve Tissue Proteins , Serotonin Plasma Membrane Transport Proteins
4.
Plants (Basel) ; 11(14)2022 Jul 09.
Article in English | MEDLINE | ID: mdl-35890448

ABSTRACT

Pecan is one of the top five most widely consumed tree nuts, and pecan nut quality is a major factor for consideration in breeding better pecan cultivars for use by producers. However, the pecan industry faces a hurdle to evaluate its nutmeat taste, and there has so far been limited evaluation of consumer attitudes toward pecan nutmeat. This study aimed to investigate the consumer (n = 198) hedonic rating, diagnostic sensory attribute intensity, and emotional response for 14 pecan samples, consisting of native/seedling and improved varieties. The results showed all kernels received positive hedonic scores (>5, 9-point hedonic scale) for overall acceptance and the acceptability of size, interior color, typical-pecan flavor, and raw-nut flavor. The primary sensory attributes (intensities > 5.0, 0−10 line scale) were typical-pecan and raw-nut flavors, followed by buttery flavor, sweetness, and astringency. Kernel off-flavors were not perceived in general. For 20 emotion-associated terms, the intensity of the satiating effect was medium, while the energizing effect was lower. The major emotional responses were healthy, satisfied, and comfort, followed by calm, interested, premium, and relaxed. Kernel variety difference was significant (p ≤ 0.05) for all these measured variables. Consumer overall acceptance toward pecan kernels was driven by the acceptability of flavor and interior color, flavor intensities, no off-flavors, and positive emotional responses; kernel size was not an impactful factor. The six most preferred varieties were 86TX2-1.5, Pawnee, Barton, 1997-09-0012, 1991-01-0026, and Harris Super. This study is the first to use consumer input to assess nut quality and consumption preference and will be foundational to ongoing breeding programs to develop new pecan cultivars that will better meet consumer preferences and expectations, and therefore will be accepted by the processing industry and growers.

5.
J Sci Food Agric ; 102(1): 73-84, 2022 Jan 15.
Article in English | MEDLINE | ID: mdl-34029397

ABSTRACT

BACKGROUND: Mushroom possesses desirable aroma, taste, texture, health-promoting and disease-preventing dietary components, making it an ideal ingredient, especially for animal-based food substitution. Nevertheless, no study has replaced egg whites partially with mushrooms and investigated their sensory quality. This study aimed to investigate flavor impartment of mushroom on egg whites and the sensory quality of roasting and steaming egg whites replaced by white and crimini mushrooms at 0%, 10%, 20% and 30%, respectively, using a panel trained with aroma chemical references for 31 sensory attributes with 0-10 line scales. RESULTS: Roasted and steamed egg whites possessed major sensory attributes of sulfury and egg-like aroma and flavor (intensities > 3). After mushroom topping was added, the dominant sensory attributes shifted to mushroom-based flavor characteristics, including mushroom-like, earthy, dark meat, roasted, hay, soybean, potato, woody, umami, bitter, astringent and firmness texture. Mushroom variety showed significant (P ≤ 0.05) impacts on egg white sensory quality, with crimini introducing more intense flavor. The higher the mushroom proportion with egg whites, the more intense was the flavor associated with mushroom. Mushroom could enhance egg-like flavor in multiple dimensions, including aroma, taste and texture, according to partial least square regression. CONCLUSION: White and crimini mushrooms enriched roasted and steamed egg white sensory quality with introduction of characteristic sensory attributes from mushrooms. Mushroom variety and proportion with egg whites displayed significant impacts on egg white sensory properties. The study contributed to understanding the impact of mushrooms on egg white sensory profile and served as a guide in incorporating mushroom in product development. © 2021 Society of Chemical Industry.


Subject(s)
Agaricales/chemistry , Egg White/chemistry , Taste , Agaricales/metabolism , Animals , Chickens , Cooking , Flavoring Agents/chemistry , Flavoring Agents/metabolism , Humans , Odorants/analysis , Smell
6.
Food Sci Nutr ; 9(3): 1410-1421, 2021 Mar.
Article in English | MEDLINE | ID: mdl-33747455

ABSTRACT

Mushroom possesses a distinctive sensory quality and unique nutrients. Its pairing with egg white and consumer acceptance has never been investigated. In this study, formulated mushroom-egg white patty prototypes (white and crimini mushrooms at 0%, 10%, 20%, and 30%, either oven roasted or steamed) were evaluated by 380 participants for acceptance and intensity of nine sensory attributes. Mushroom-egg white patty prototypes received positive hedonic scores for overall acceptance and the likeability of overall flavor, mushroom flavor, meaty flavor, egg white flavor, overall texture, and firmness. Consumer overall acceptance was most strongly and positively correlated with overall flavor liking, followed by overall appearance and overall texture likeability. Additionally, the likeability of flavor pairing between mushroom and egg white was rated positively across all 16 patties, indicating a good flavor match of mushroom and egg white. Consumer hedonic levels toward mushroom patties were significantly (p ≤ .05) impacted by cooking method, mushroom type, and mushroom level. The addition of mushroom was acceptable up to 20%, with steam method and crimini mushroom most preferred. The results provided new insights into consumer attitudes and potentially important sensory factors affecting the acceptability of mushroom-egg white patties, consequently increasing the utilization and consumption of mushrooms and mushroom-blended products.

7.
J Pediatr ; 163(5): 1514-6, 2013 Nov.
Article in English | MEDLINE | ID: mdl-23916226

ABSTRACT

Perinatal transmission of dengue virus was confirmed by the evidence of virus in fetal tissue, newborn serum, and placenta of pregnant women. Abortion, several different clinical findings, and placental inflammatory findings were documented. No association was seen between severity of maternal dengue and disease of the newborn.


Subject(s)
Dengue/transmission , Dengue/virology , Infectious Disease Transmission, Vertical , Pregnancy Complications, Infectious/virology , Brazil , Dengue/blood , Dengue Virus , Diagnosis, Differential , Female , Humans , Immunohistochemistry , Infant, Newborn , Inflammation , Maternal Exposure , Placenta/virology , Pregnancy , Sepsis/diagnosis
8.
Braz. j. vet. res. anim. sci ; 50(6): 462-467, 2013. tab
Article in Portuguese | LILACS | ID: lil-789915

ABSTRACT

The study evaluated the effect of dietary restriction in prepubertal gilts associated with the use of flushing in the preceding cycle of artificial insemination, 2nd or 3rd estrus on productive performance, number of corpora lutea and fetus, besides the fetus survival rate. A total of 96 gilts were distributed to a completely randomized design with 2x2x2 factorial arrangement of treatments, consisting of: nutritional strategy, ad libitum or restricted feeding, use or not of flushing in the preceding cycle AI, and time of AI, held on the 2nd or 3rd estrus. The age at which gilts expressed the 1st estrus was not influenced by nutritional strategy, but the body weight and weight gain were higher (P 0.05) in gilts submitted to ad libitum feeding. No interactions were observed as treatment effect on number of corpora lutea and fetus survival rate. The number of fetuses in females on ad libitum feeding was not influenced by time of AI, but the females feed restriction showed an increase (P 0.05) in the number of fetuses when inseminated on 3rd estrus. Thus, it is concluded that the use of ad libitum nutritional strategy allows for insemination forward 2nd estrus without reducing the number of fetuses, reducing the non-productive days gilt. However, this strategy reduces the rate of fetal survival until day 35 of gestation...


Foi avaliado o efeito da restrição alimentar na fase pré-púbere associada ao emprego do flushing no ciclo precedente ao da inseminação artificial, sendo realizada no 2 ou 3 estro, sobre o desempenho produtivo, numero de corpos lúteos e de fetos, além da taxa de sobrevivência fetal. Um total de 96 fêmeas foi distribuído em delineamento inteiramente casualizado com arranjo fatorial 2x2x2, sendo considerados os fatores: estratégia nutricional, alimentação ad libitum ou restrita; utilização ou não de flushing no ciclo precedente a IA, e momento da IA, realizada no 2 ou 3 estro, constituindo oito tratamentos. A idade em que as marras manifestaram o 1 estro não foi influenciada pela estratégia nutricional, mas o peso e o ganho de peso foram maiores (P 0,05) na alimentação ad libitum. Não foram observados interação e tão pouco efeito de tratamento no numero de corpos lúteos e a taxa de sobrevivência dos fetos. O numero de fetos em fêmeas mantidas em alimentação ad libitum não foi influenciado pelo momento da IA, contudo as fêmeas em restrição alimentar apresentaram aumento (P 0,05) no numero de fetos quando inseminadas no 3 estro. Desse modo, conclui-se que o emprego da estratégia nutricional ad libitum possibilita adiantar a inseminação para o 2 estro sem redução no numero de fetos, diminuindo os dias não produtivos da marra. Porém, essa estratégia reduz a taxa de sobrevivência fetal até 35º dia de gestação...


Subject(s)
Animals , Female , Insemination, Artificial/veterinary , Ovulation , Caloric Restriction/veterinary , Swine/physiology , Swine/metabolism , Estrous Cycle , Sexual Maturation
9.
Mol Biol Rep ; 37(1): 51-7, 2010 Jan.
Article in English | MEDLINE | ID: mdl-19333781

ABSTRACT

The type and frequency of structural hemoglobin variants and their hematological and molecular characteristics were identified using PCR-RFLP and sequencing techniques in 66 individuals from 33 unrelated families who referred to the two clinics of Kermanshah University of Medical Sciences from 2005 to 2006. We detected 28 subjects carrier for Hb D-Punjab (42.4%), 21 individuals carrier of Hb Q-Iran (31.8%), 12 subjects heterozygous for Hb Setif (18.2%), four cases with sickle cell disease (6.1%), and one case with Hb C (1.5%). All beta(S) genes (4 genes) were linked to the Benin haplotype with negative Taq I site 5' to gamma(A) gene. All beta(D)-Punjab genes (29 genes) were in linkage disequilibrium with haplotype I. The only beta(C) chromosome was linked to haplotype II. Both beta(0)-thalassemia chromosomes with CD15 (G --> A) mutation had haplotype background I. Three beta(+)-thalassemia chromosomes with IVSI.110 (G --> A) mutation were associated with haplotype I [+ - - - - + +]. In turn, the three beta-thalassemia chromosomes with IVS II.1 G --> A mutation were associated with atypical haplotype [- + + + + + -]. Hematological indices of carriers of Hb D-Punjab, Hb Q-Iran and Hb Setif were lower than those reported for normal individuals. For the first time, we have reported the haplotype background of beta(S) gene among Kurdish population of Iran. Our results revealed that Hb D-Punjab is the most prevalent beta-globin chain structural variant in this area and that is followed in frequency by an alpha-chain variant, Hb Q-Iran. The result of present study is useful for clinical management and the establishment of screening programmes in Western Iran.


Subject(s)
Ethnicity/genetics , Hemoglobins, Abnormal/genetics , Hematologic Tests , Heterozygote , Homozygote , Humans , Iran
10.
Mol Biol Rep ; 37(1): 149-54, 2010 Jan.
Article in English | MEDLINE | ID: mdl-19437135

ABSTRACT

Beta Thalassemia has been reported to be a common genetic disorder in Iran. To establish the molecular spectrum of the beta thalassemias in the Kermanshah Province of Iran, 185 unrelated beta thalassemia patients with Kurdish ethnic background were studied (181 beta-thalassemia major and 4 beta-thalassemia intermedia). Using polymerase chain reaction-amplification refractory mutation system (PCR-ARMS), restriction fragment length polymorphism (RFLP) and direct genomic sequencing twenty different mutations were identified accounting for 98.1% of the alleles. Approximately 80.8% of beta-thalassemia chromosomes had beta(0) mutation. The most prevalent mutation was the IVSII-1 (G-->A) (32.97%), followed by CD8/9 +G (13.51%), IVSI-110 (C-->T) (8.38%), CD 36/37 -T (7.84%), CD8 -AA (5.94%), CD15 (G-->A) (4.86%) and IVSI-1 (G-->A) (4.59%). All of these mutations accounted for 78.1% of the alleles. The results described here will be of valuable help in the development of successful prevention programs for the population of Kermanshah.


Subject(s)
Mutation/genetics , Polymerase Chain Reaction/methods , beta-Thalassemia/genetics , Adolescent , Female , Geography , Humans , Iran , Male
11.
Rev. enferm. UERJ ; 17(2): 268-272, abr.-jun. 2009.
Article in Portuguese | LILACS, BDENF - Nursing | ID: lil-528352

ABSTRACT

A esporotricose é uma micose cutânea ou subcutânea, de evolução subaguda ou crônica, causada pelo fungo dimórfico Sporothrix schenckii que vive no solo em associação com restos vegetais, que acomete o homem e várias espécies de animais. Este estudo teve como objetivos analisar na produção bibliográfica o conhecimento sobre a infecção causada pelo fungo Sporothrix schenkii, a esporotricose humana, e apresentar suas contribuições para o cuidado em enfermagem. Foi realizada pesquisa bibliográfica e eletrônica, através de consulta a Bancos de Dados Virtuais (SciELO, LILACS, BDENF). Foram analisadas 12 publicações do período de 1999 a 2007. O conhecimento da esporotricose humana, nos seus aspectos clínicos, epidemiológicos, laboratoriais e terapêuticos, permite ao enfermeiro estabelecer o cuidado de enfermagem aos indivíduos acometidos pela doença e orientar aos portadores de animais contaminados quanto aos procedimentos a serem observados.


Sporotrichosis is a cutaneous or subcutaneous mycosis with chronic or subacute evolution. It is caused by the dimorphic fungus Sporothrix schenckii, found in soil in combination with crop residues and affects both man and several species of animals. This study aimed at examining the knowledge found in bibliographic production on the infection caused by the fungus Sporothrix schenkii, human sporotrichosis as well as at contributing to nursing care. Bibliographic research was conducted through Virtual Database (SciELO, LILACS, BDENF). Twelve publications from 1999 to 2007 were analyzed. Knowledge of human sporotrichosis in their clinical, epidemiological, laboratory, and treatment aspects allows the nurse to provide nursing care to individuals affected by the disease and to guide people with contaminated animals on the procedures to be observed.


La Esporotricosis es una micosis cutánea o subcutánea, de evolución subaguda o crónica, causada por el hongo dimorfo Sporothrix schenckii que vive en la tierra en combinación con residuos vegetales, que afecta, el hombre y varias especies de animales. Este estudio tuvo como objetivo examinar la producción bibliográfica de conocimientos sobre la infección causada por el hongo Sporothrix schenkii, la esporotricosis humana y presentar aportes para el cuidado de enfermería. Fue hecha pesquisa bibliográfica y eletrónica, a través de consulta a Bancos de Datos Virtuales (SciELO, LILACS, BDENF). Se analizaron 12 publicaciones en el período comprendido entre 1999 y 2007. El conocimiento de la esporotricosis en sus aspectos clínicos, epidemiológicos, de laboratorio y terapéuticos, permite al enfermero proporcionar cuidado de enfermería a las personas afectadas por la enfermedad y orientar a los portadores de animales contaminados cuanto a los procedimientos que deberán ser observados.


Subject(s)
Humans , Delivery of Health Care , Nursing Care , Sporotrichosis/diagnosis , Sporotrichosis/nursing , Sporotrichosis/epidemiology , Sporotrichosis/therapy , Sporothrix/pathogenicity , Databases, Bibliographic , Nursing Research
12.
Blood Cells Mol Dis ; 42(2): 140-3, 2009.
Article in English | MEDLINE | ID: mdl-19141369

ABSTRACT

Beta-thalassemia (beta-thal) is the most common single gene disorder in Iran. To determine the chromosomal background of beta thalassemia mutations in Western Iran we studied beta-globin gene cluster haplotypes in 314 beta-thal and 70 beta(A) chromosomes with a Kurd ethnic background from the province of Kermanshah, Iran using PCR-RFLP. beta-thal mutations were analyzed using PCR-ARMS, RFLP and direct genomic sequencing. Haplotypes were constructed by analyzing the pattern of seven restriction sites through the beta-globin gene cluster. Haplotype I was the most prevalent haplotype (35.7%) among beta-thal chromosomes followed by haplotype III (28.6%). beta(A) chromosomes similar to beta-thal chromosomes were linked to diverse haplotypes but predominantly with haplotype I (42.9%). The predominant IVSII-1 (G-->A) mutation in this population (33%) was strongly linked to haplotype III (66.1%) but was also found on chromosomes with haplotypes I, II, V, X and atypical. The second prevalent mutation was CD8/9 +G (13.5%) and showed a strong association with haplotype I (96.4%) and a weak association with haplotype V (3.6%). Haplotype background for Kurdish mutations among our studied population was similar to those among Kurdish Jews and people of Kurdistan of Iran. Identification of the most common mutations on different haplotype backgrounds can be explained by a variety of gene conversion and recombination events.


Subject(s)
Ethnicity/genetics , Haplotypes/genetics , beta-Globins/genetics , beta-Thalassemia/genetics , Female , Gene Conversion , Gene Frequency , Humans , Iran/epidemiology , Linkage Disequilibrium , Male , Mutation , Polymorphism, Restriction Fragment Length , beta-Thalassemia/ethnology
13.
Arch Iran Med ; 11(4): 382-6, 2008 Jul.
Article in English | MEDLINE | ID: mdl-18588369

ABSTRACT

BACKGROUND: Single nucleotide mutations in alpha1 or alpha2 genes produce abnormal alpha-chain hemoglobins. Hemoglobin Q disorders including hemoglobin Q-Iran, hemoglobin Q-Thailand, and hemoglobin Q-India are important hemoglobin variants. Herein, we report on the presence and hematologic and molecular features of hemoglobin Q-Iran [alpha75 (EF4) Asp-->His] in 20 members of 11 families including nine children and hemoglobin Setif [alpha94 (G1) Asp-->Tyr] in 10 individuals from five families consisting of five children and their affected parents living in western Iran. METHODS: A polymerase chain reaction-RFLP procedure using Ava II restriction enzyme was designed to confirm the presence of two alpha-chain variants. To find the coinheritance with alpha-thalassemia, the presence of deletions of -alpha3.7, -alpha20.5, --MED, --SEA, and nondeletion defects of IVSI (-5 bp) and hemoglobin CS was examined using polymerase chain reaction-based approaches. RESULTS: The mean+/-SD level of hemoglobin Q-Iran was 20.4+/-4.4%. Three out of 18 individuals with hemoglobin Q-Iran were heterozygous for -alpha3.7 deletion (-alpha3.7/alpha alpha). The coinheritance of hemoglobin Q-Iran and -alpha3.7 deletion resulted in significantly (P=0.002) higher levels of hemoglobin Q-Iran (26.7+/-3.8%). In those heterozygous for hemoglobin Setif, the level of this hemoglobin was 17.8+/-5.6%. CONCLUSION: The polymerase chain reaction-RFLP method described here is a simple, rapid, and inexpensive procedure for the diagnosis of abnormal alpha-chains in developing countries.


Subject(s)
Hemoglobins, Abnormal/analysis , Hemoglobins, Abnormal/genetics , Mutation , Adolescent , Adult , Child , Child, Preschool , Female , Hematologic Tests , Humans , Male , Middle Aged , Polymerase Chain Reaction , Young Adult
14.
J Thromb Thrombolysis ; 25(3): 288-92, 2008 Jun.
Article in English | MEDLINE | ID: mdl-17619828

ABSTRACT

BACKGROUND: A hypercoagulable state in sickle cell disease (SCD) and beta thalassemia has been established and thrombosis is an important aspect of the clinical spectrum of sickle cell disease. In a case-control study, the prevalence of factor V Leiden and prothrombin G20210A mutations were investigated among SCD patients from Southern Iran. METHODS: Patients comprised 60 individuals with SCD; of them 35 were with sickle cell anemia (SS) including 21 males and 14 females aged 17.2+/-8.3 years, 15 were sickle cell trait (AS) consisted of nine males and six females aged 30+/-15.4 years and 10 were sickle/beta thalassemia (S/Thal) (three males and seven females) aged 24.6+/-10.4 years. The control group were 126 apparently healthy individuals (50 males and 76 females) aged 20.1+/-9.8 years. Genotyping was done by polymerase chain reaction restriction fragment-length polymorphism (PCR-RFLP) using Mnl I and Hind III for factor V Leiden and prothrombin G20210A, respectively. RESULTS: Heterozygous factor V Leiden mutation was found in five of 35 (14.3%) SS patients, two of 15 (13.3%) AS individuals, one (a sickle/beta-zero thalassemia patient with IVSII.1 G-->A mutation) of 10 S/Thal patients (10%), and two of 126 (1.6%) control subjects (P<0.05). However, only one AS individual (6.7%) was found to be a carrier for prothrombin G20210A compared to five of 126 (4%) healthy individuals. Adjusted logistic regression analysis for the effects of age and sex was performed and a significant association was found between factor V Leiden mutation and sickle cell anemia with odds ratios (OR) of 6.5 (95% confidence intervals [CI] 1.19-35.33, P=0.03) in SS patients. However, increased prevalence of the factor V Leiden in AS individuals and S/Thal patients was not statistically significant compared to controls (OR 3.84, 95% CI 0.49-29.9, P=0.19 and OR 3.77, 95% CI 0.31-45.9, P=0.29, respectively). CONCLUSIONS: Our findings indicate a significant correlation between factor V Leiden and sickle cell anemia among Iranian patients. Association between venous thrombophilia and factor V Leiden mutation in Iranians with sickle cell anemia should be further studied.


Subject(s)
Anemia, Sickle Cell/genetics , Blood Coagulation/genetics , Factor V/genetics , Mutation , Thrombophilia/genetics , Adolescent , Adult , Anemia, Sickle Cell/blood , Anemia, Sickle Cell/ethnology , Case-Control Studies , Child , Female , Gene Frequency , Genetic Predisposition to Disease , Heterozygote , Humans , Iran/epidemiology , Logistic Models , Male , Middle Aged , Odds Ratio , Polymorphism, Restriction Fragment Length , Prothrombin/genetics , Risk Assessment , Sickle Cell Trait/blood , Sickle Cell Trait/genetics , Thrombophilia/blood , Thrombophilia/ethnology , beta-Thalassemia/blood , beta-Thalassemia/genetics
15.
J Thromb Thrombolysis ; 26(3): 229-33, 2008 Dec.
Article in English | MEDLINE | ID: mdl-17982733

ABSTRACT

BACKGROUND: There is evidence for increased risk of thrombosis in patients with beta-thalassemia intermedia and beta-thalassemia major. The present study investigated the prevalence of thromboembolic risk factors of prothrombin G20210A, factor V Leiden G1691A and methylentetrahydrofolate reductase (MTHFR) C677T, as well as the hematological and clinical profiles in beta-thalassemia major and intermedia patients from Western Iran. METHODS: Patients consisted of 158 beta-thalassemia patients, 151 beta-thalassemia major and 7 beta-thalassemia intermedia patients, including 82 males and 76 females aged 13.6 +/- 6.3 years. The control group were 180 healthy blood donors and school students, consisting of 103 males and 77 females aged 16.8 +/- 2.1. Genotyping was done by PCR-RFLP using Mnl I, Hind III and Hinf I for factor V Leiden and prothrombin G20210A and MTHFR, respectively. RESULTS: The prevalence of prothrombin G20210A variant in patients and healthy individuals were 1.3 and 3.3%, respectively. Factor V Leiden G1691A was insignificantly higher in beta-thalassemia patients (prevalence 5.7% and allele frequency 3.2%) compared to healthy individuals (2.8%). This mutation was found in eight beta-thalassemia major (5.3%) and one beta-thalassemia intermedia (14.3%) patients. The prevalence of MTHFR C677T polymorphism was slightly higher in patients (50%) compared to healthy individuals (48.3%). Around 71% of beta-thalassemia intermedia and 38.4% of beta-thalassemia major patients had undergone splenectomy. In beta-thalassemia major patients, 5.3% had insulin dependent diabetes mellitus (IDDM) and 6.6% had HCV antibodies. All patients with IDDM were splenectomized and in one of them the prothrombin G20210A variant was found. Two patients, a 7-year-old boy with beta-thalassemia intermedia receiving regularly blood transfusion and a beta-thalassemia major patient (a 22-year-old splenectomized female), were found to be homozygous for MTHFR 677TT and heterozygous for factor V Leiden G1691A. Double heterozygosity for factor V Leiden G1691A and MTHFR C677T and also homozygous factor V Leiden 1691AA were found in two beta-thalassemia major patients. No thromboembolic event has been recorded in the files of patients. CONCLUSIONS: The results of present study establish the prevalence of biological risk factors of thrombosis in beta-thalassemia patients from Western Iran. It seems that thrombophilic mutations may not be associated with thrombotic events in thalassemic patients, which needs to be confirmed by the study of larger sample sizes.


Subject(s)
Genetic Predisposition to Disease/epidemiology , Genetic Predisposition to Disease/genetics , Polymorphism, Single Nucleotide/genetics , Thrombophilia/complications , beta-Thalassemia/complications , Adolescent , Adult , Child , Child, Preschool , Cohort Studies , Factor V/genetics , Female , Gene Frequency , Humans , Infant , Iran/epidemiology , Male , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Prevalence , Prothrombin/genetics , Thrombophilia/epidemiology , Thrombophilia/genetics , Young Adult , beta-Thalassemia/genetics
16.
J Pediatr Hematol Oncol ; 29(9): 649-51, 2007 Sep.
Article in English | MEDLINE | ID: mdl-17805044

ABSTRACT

BACKGROUND: Hemoglobin Q (HbQ)-Iran [alpha75 (EF4) Asp-->His] is an alpha-chain variant that in the heterozygous state has normal hematology and has not been reported in association with a thalassemic phenotype. Here, for the first time, we described the hematologic characteristics of a 5-year-old boy with HbQ-Iran/-alpha3.7 kb trans to HbQ-Iran mutation/beta0-thalassemia (IVSII.1.G-->A) living in the Kermanshah province of Iran. OBSERVATIONS: The level of HbQ-Iran was found to be 22.4%. However, a significant reduction in mean corpuscular volume (59.3 fL) and mean corpuscular hemoglobin (19.6 pg) and an elevation of hemoglobin F (6.3%) was observed. CONCLUSIONS: This report indicates that HbQ-Iran to be a benign structural variant of Hb, that in combination with -alpha3.7 kb gene and beta0-thalassemia, presents a minor beta-thalassemia picture with moderate anemia.


Subject(s)
Hemoglobins, Abnormal/genetics , alpha-Thalassemia/genetics , beta-Thalassemia/genetics , Amino Acid Substitution , Aspartic Acid/chemistry , Aspartic Acid/genetics , Child, Preschool , Histidine/chemistry , Histidine/genetics , Humans , Male , Mutation
17.
Blood Cells Mol Dis ; 37(2): 91-4, 2006.
Article in English | MEDLINE | ID: mdl-16938474

ABSTRACT

A total of 1,000 school boys ages 14-18 years, were randomly selected from six schools of Kermanshah and screened for G6PD deficiency. Fifty-three out of 1,000 were found to be severely G6PD deficient giving a frequency of 5.3% for G6PD deficiency in males in Kermanshah. We performed DNA analysis on 68 G6PD deficient children, 52 school boys and 16 children with the history of favism and hemolytic anemia using a combination of PCR-RFLP technique, single strand conformation polymorphism (SSCP) analysis and DNA sequencing. Three polymorphic G6PD mutations were identified: G6PD Mediterranean, Chatham and Cosenza. The commonest allele was found to be the G6PD Mediterranean (91.2%) followed by the G6PD Chatham (7.3%) and the G6PD Cosenza (1.5%). Haplotype analysis revealed that 56 out of 62 (90%) G6PD Mediterranean was linked to haplotype BclI(+) (1311T). In contrast, all G6PD Chatham and Cosenza had haplotype BclI(-) (1311C). The polymorphism IVS11-93 (T-->C) was present in 88.5% of the subjects studied. Only 4/55 (7.3%) of the Mediterranean alleles were associated with the T form and were always related to the nt 1311C. Our findings indicate that the allele frequency of G6PD Mediterranean mutation in Kermanshah is higher than those from two Fars ethnic groups living in Northern and Southern Iran. Nevertheless, they are in strict accordance with a previous report of the prevalence of the G6PD Mediterranean in Kurdish and Middle East population. Also, of strong association of the G6PD Mediterranean mutation and the presence of the polymorphism nt 1311C-->T in the Kermanshah population demonstrate that the presence of this mutation may be the result of migrations that have taken place through the history of Iran.


Subject(s)
Ethnicity/genetics , Glucosephosphate Dehydrogenase Deficiency/ethnology , Glucosephosphate Dehydrogenase Deficiency/genetics , Glucosephosphate Dehydrogenase/genetics , Glucosephosphate Dehydrogenase/metabolism , Adolescent , Alleles , Humans , Iran/epidemiology , Male , Point Mutation , Polymorphism, Genetic , Sequence Analysis, DNA/methods
18.
Braz. j. vet. res. anim. sci ; 43(1): 42-50, 2006.
Article in Portuguese | LILACS | ID: lil-453749

ABSTRACT

A metoclopramida vem sendo utilizada em mulheres como terapia para incremento lactogênico não havendo na literatura informações sobre a utilização desta droga em suínos. O estudo objetivou, avaliar os efeitos da metoclopramida na produção de leite e desempenho da leitegada. Foram utilizadas 12 fêmeas suínas, as quais foram homogeneizadas de acordo com a ordem de parto. A padronização das leitegadas foi estabelecida em 10 leitões por fêmea, totalizando 120 leitões. O delineamento experimental foi inteiramente casualizado caracterizado por medidas repetidas no tempo, sendo definidos dois tratamentos com seis respectivos cada. No tratamento controle (T1) foi feita a aplicação intra-muscular de soro fisiológico nos três primeiros dias pós-parto e no tratamento 2 (T2) foi aplicado metoclopramida. A metoclopramida influenciou significativamente (p < 0,05) na produção de leite, nos três primeiros dias, havendo maior produção em relação ao controle. Não houve diferenças significativas quanto ao ganho de peso dos leitões nas faixas etárias avaliadas, havendo diferença significativa (p < 0,05) no peso dos leitões no 7° dia de vida. Destacou-se no estudo maior homogeneidade e menor dispersão da leitegada proveniente das fêmeas tratadas com metoclopramida, evidenciados pelos valores máximos e mínimos observados aos 21 dias de idade (p < 0,06). Concluiu-se que a metoclopramida provocou aumento do aporte lactacional em fêmeas suínas, nos três primeiros dias de lactação, cujo efeito traduziu-se na melhor homogeneidade da leitegada.


Metoclopramide has been used in humans as a therapy to increase milk production. There is no information available about this drug in swine for the same purpose. The objective of the study was to evaluate the effects of metoclopramide on lactation of swine females and litter development. For this reason 12 females were used in this study. They were assigned in two graups (T1 and T2) and were drug-induced farrowing. T1 females received saline solution during three days after farrowing and T2 group received metoclopramide. The experimental period lasted 42 days starting fram the administration of the drug. Metoclopramide significantly (p <0,05) affected milk praduction at the first three days compared to the control females. Inthe study we found greater homogeneity and smaller dispersion of litter weight fram females treated with metoclopramida, based upon piglet weight at 21 days of age. In conclusion metoclopramide induced higher milk praduction in swine on the first tree days oflactation and affected litter homogeneity.


Subject(s)
Animals , Female , Weight Gain , Milk , Metoclopramide/administration & dosage , Metoclopramide/adverse effects , Swine
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