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1.
BACKGROUND: Renal medullary carcinoma is a recently described, highly aggressive neoplasm that affects predominantly young African American males with a history of sickle cell trait. To the best of our knowledge, this is the first report of fine needle aspirate cytology (FNAC) findings of renal medullary carcinoma. CASE: A 14-year-old, African American male with a history of sickle cell trait presented with the sudden onset of third cranial nerve palsy. Radiographic examination demonstrated possible tumor masses in the brain, thorax and left kidney. Ultrasound-guided fine needle aspiration was performed on the left kidney, and a cytologic diagnosis of "suspect renal medullary carcinoma" was rendered. The cytologic diagnosis was confirmed by tissue examination. CONCLUSION: The cytologic features of renal medullary carcinoma include loosely cohesive clusters and single epithelioid cells with cytologic atypia, including high nuclear/cytoplasmic ratios, hyperchromasia, prominent nucleoli and cytoplasmic vacuolation. These cytologic findings, coupled with clinical findings (young black male with sickle cell trait), allow recognition of this rare renal neoplasm.  相似文献   

2.
A renal tubular epithelial antigen (RTE)--anti-RTE autologous immune complex nephritis associated with sickle cell anaemia (SS) has been reported, but immune complex nephritis has never been described in patients with sickle cell trait (SA). During investigation of a child with "asymptomatic proteinuria" cryoprecipitable complexes of RTE-anti-RTE were detected in the serum and granular deposits of RTE, immunoglobulins, and complement localised on the glomerular basement membranes. Morphological and ultrastructural studies showed increased mesangial matrix, sickled red blood cells in the glomeruli and vessels, and tubular and interstitial abnormalities. These findings prompted haemoglobin electrophoretic studies, which showed previously undiagnosed haemoglobin SA in this patient and her family. These observations suggest that nephritis mediated by similar immunopathogenic mechanisms may be associated with SS and SA haemoglobinopathy. Under some conditions patients with sickle cell trait may experience haemodynamic and oxygenation abnormalities, which may be aetiological factors in the immune complex nephritis associated with SS disease.  相似文献   

3.
To study the prevalence of beta-thalassaemia and sickle cell traits in the Al-Qassim region, Saudi Arabia. The Ministry of Health of Saudi Arabia launched a countrywide programme in February 2004 to allow all Saudis planning marriage to screen their carrier status for beta-thalassaemia and sickle cell traits. This population survey of mandatory premarital screening for beta-thalassaemia and sickle cell heterozygotes provided an opportunity to estimate the prevalence of these traits in the Al-Qassim region. From February 2004 to October 2006 all individuals attending for premarital screening in that region were screened. For each subject, venous blood was taken to determine complete blood count, red cell indices and hemoglobin electrophoresis. Subjects were considered to have beta-thalassaemia trait if mean corpuscular volume was <79 fl, mean corpuscular haemoglobin <27 pg and haemoglobin A2 level >3.5%; and sickle cell trait if sickle cell haemoglobin amounted to 35 to 45% and sickling test was positive. Totally 38,153 individuals were screened during the study period. The prevalence rates of beta-thalassaemia and sickle cell traits were 0.165% (63/38,153) and 0.252% (96/38,153) respectively. Compared with results of previous studies carried out in this region on the same issue, the prevalence of sickle cell heterozygotes seems to be the same but the frequency of beta-thalassaemia carriers is substantially higher. Screening for carriers both of beta-thalassaemia and sickle cell traits is important to prevent at risk marriages through genetic counseling.  相似文献   

4.
Sickle cell disease is a hereditary disorder that is characterized by the production of structurally abnormal hemoglobin molecules. Clinical manifestations depend upon the amount and types of abnormal hemoglobin present. This paper reviews the genetic and molecular basis of sickle hemoglobinopathies and thalassemias including sickle cell anemia, SC disease, sickle cell-Beta Thalassemia and sickle trait. The systemic and ocular manifestations of these diseases are presented. Treatment regimens pertaining to hyphema, proliferative retinopathy, vitreous hemorrhage and retinal detachment are also discussed.  相似文献   

5.
A case of retroperitoneal fibrosis with bilateral ureteral obstruction in association with Riedel''s struma of the thyroid is reported. There has been a definite increase in incidence of retroperitoneal fibrosis, but with prompt recognition and adequate treatment the mortality rate has been decreased from the original 14%. The association of Riedel''s struma with retroperitoneal fibrosis has been noted in the past and its association with sclerosing cholangitis has also been mentioned. It is not known whether Riedel''s thyroiditis originates in the thyroid gland and spreads or whether true thyroiditis is part of a generalized process. The temporal relationship of thyroiditis and retroperitoneal fibrosis suggests an extension of fibrosis from the thyroid, but one cannot be sure which condition occurred first. Whatever the cause, the treatment remains the same as for retroperitoneal fibrosis from other causes.  相似文献   

6.
The ratio of total globin alpha to beta chain synthesis was determined in reticulocytes isolated from the blood of the members of a black family, some of whom had sickle cell trait with low blood HbS concentrations (25-30%). The results support the hypothesis that sickle cell trait individuals with low HbS concentrations also carry a gene for alpha-thalassemia.  相似文献   

7.
Within the past few years it has been noted that abnormal types of hemoglobin found in certain persons are associated with definite clinical disorders. At least four different varieties of sickle cell anemia are now recognized, three of them being heterozygous and one homozygous. When the gene for sickling is represented once, the person is asymptomatic and is said to have "sickle cell trait." However, when the sickle cell trait is present in combination with certain other hemoglobin abnormalities such as hemoglobin C or D or with thalassemia trait, symptomatic clinical disease results. The homozygous condition, in which two genes for hemoglobin C are present in the same person, has been observed in a few instances. A similar condition as regards hemoglobin D has not as yet been recognized.  相似文献   

8.
Taj Jadavji  Charles G. Prober 《CMAJ》1985,132(7):814-815
Dactylitis commonly occurs in patients with homozygous hemoglobin S disease (sickle cell anemia), sickle cell-hemoglobin C disease or sickle cell-β-thalassemia. A case is reported of dactylitis associated with sickle cell trait, a very rare occurrence. It may be that in this patient the disorder was secondary to severe diarrhea and dehydration.  相似文献   

9.
Atomic force microscopy (AFM) allows for high-resolution topography studies of biological cells and measurement of their mechanical properties in physiological conditions. In this work, AFM was employed to measure the stiffness of abnormal human red blood cells from human subjects with the genotype for sickle cell trait. The determined Young's modulus was compared with that obtained from measurements of erythrocytes from healthy subjects. The results showed that Young's modulus of pathological erythrocytes was approximately three times higher than in normal cells. Observed differences indicate the effect of the polymerization of sickle hemoglobin as well as possible changes in the organization of the cell cytoskeleton associated with the sickle cell trait.  相似文献   

10.
In this study, information about both counselee and counselor performance was obtained from taped recordings of 193 structured counseling sessions with persons diagnosed as having sickle cell trait. The data provide evidence that: (1) lay persons can understand essential sickle cell information; (2) trained lay persons using a structured format can transmit successfully sickle cell information; (3) only education and age, among counselee characteristics studies, were related to successful learning; (4) the evaluation of information transfer in counseling programs cannot be limited to counselees' comprehension but must also consider other variables such as counselor performance and curriculum content; (5) a reduction in negative feelings associated with a diagnosis of sickle cell trait is an immediate effect of counseling; and (6) audio-taping of counseling sessions is client acceptable and useful for evaluation, quality control, and counselor training.  相似文献   

11.
Abstract

The Health Orientation Scale (HOS), a written self‐report instrument, was developed to objectively appraise the psychological implications of identification as a sickle cell gene carrier (AS). The HOS uses the semantic differential technique and consists, of nine situations thought to be of importance in identification as a carrier. The instrument was completed by respondents during the various phases of the screening and counseling process. Discussion will focus on a comparison of carrier and noncarrier (AA) reactions to situations which involve the diagnoses of sickle cell trait (AS), sickle cell disease (SS), cancer, and hypertension along with a comparison of feelings before and after counseling. Results suggest that noncarriers have more negative feelings about sickle cell than carriers. Further, counseling, as it is currently practiced, does not contribute to any significant differences in feelings about sickle cell for either carriers or noncarriers. The attitudes and feelings of noncarriers toward sickle cell trait and disease suggest that carrier identification is a stigma.  相似文献   

12.
Sickle cell disease is observed to occur in significantly high frequencies amongst the tribes of India. It has surged to the fore as an important public health problem among tribal groups, which needs serious attention. This paper presents the distribution of this abnormal genetic problem among scheduled tribes of India, in general and among those of Andhra Pradesh and Orissa states, in detail. Though the prevalence of sickle cell trait is high, the sickle cell disease cases are found to be very low, since all these surveys are made among adults. Most of the sickle cell disease cases might have expired during their early states. Hence, it is attempted to estimate the expected frequencies of disease cases from HbS gene frequencies. Estimations were also made by considering higher levels of inbreeding among these populations.  相似文献   

13.
Colorimetric determinations of glycosylated Hb were carried out in a sample (n = 97) of sickle cell anemia patients, and in an age- and sex-matched group of individuals (n = 45) heterozygous for sickle cell anemia, from the Eastern Province of Saudi Arabia. A statistically significant increase in the value of glycosylated Hb was found in sickle cell trait (HbAS) group, when compared with those of sickle cell anemia (HbSS) and normal (HbAA) groups. Since glycosylated Hb is considered a valid indicator of long-term blood glucose, and assuming normal red blood cell survival in HbAS carriers, the increased value of glycosylated Hb may suggest that there exists a higher incidence of undiagnosed diabetes mellitus in individuals with heterozygous inheritance for sickle cell hemoglobin than homozygous sickle cell patients and normal individuals. The mechanism underlying this observation remains to be defined.  相似文献   

14.
Recent studies in Kenya and Ghana have shown that individuals who inherit two malaria-protective genetic disorders of haemoglobin-α(+) thalassaemia and sickle cell trait-experience a much lower level of malaria protection than those who inherit sickle cell trait alone. We have previously demonstrated that this can limit the frequency of α(+) thalassaemia in a population in which sickle cell is present, which may account for the frequency of α(+) thalassaemia in sub-Saharan Africa not exceeding 50%. Here we consider the relationship between α(+) thalassaemia and sickle cell in South Asian populations, and show that very high levels of α(+) thalassaemia combined with varying levels of malaria selection can explain why sickle cell has penetrated certain South Asian populations but not others.  相似文献   

15.
Deletional alpha(+)-thalassemia (-alpha(3.7)) was investigated in four groups of unrelated individuals from the Bantu population (newborns, normal adults, sickle cells trait carriers, sickle cell anemia patients) of Brazzaville, Congo. The frequency of the (-alpha(3.7)) chromosome was similar between newborns (f = 0.40) and adult subjects (f = 0.36), and between sicklers and nonsickler subjects. The frequency of the (-alpha(3.7)) chromosome in sickle cell anemia patients (SS patients) did not change when age was stratified. The hematological characteristics of SS patients with (-alpha/alphaalpha, -alpha/-alpha) and without (alphaalpha/alphaalpha) alpha(+)-thalassemia were similar to those reported in Jamaican and US sickle cell anemia patients. alpha(+)-Thalassemia had an effect on the percentage of hemoglobin S in sickle cell trait carriers. Thus, the high frequency of alpha(+)-thalassemia in the Congolese population presumably results from this disorder having a selective advantage favoring survival. However, the frequency of alpha(+)-thalassemia was not affected by age. Although in this selective tropical environment, alpha(+)-thalassemia as elsewhere markedly affects the hematological characteristics of sickle cell anemia patients, however our data provide no evidence that alpha(+)-thalassemia increases survival of SS patients.  相似文献   

16.
To elucidate the origin and spread of the sickle cell trait into the Portuguese population, we examined nine polymorphic DNA markers within the beta globin gene cluster defining the haplotype. The population sample included 64 sickle-cell-gene-bearing individuals from defined Portuguese-speaking white, black, and Asian Indian populations. The nature and geographic distribution of the different beta S haplotypes in Portugal suggest that the sickle cell trait has been imported twice: between the eighth and the thirteenth centuries from the Mediterranean basin (in association with the Benin haplotype) and after the fifteenth century from black Africa over an Atlantic route (Senegal and Bantu haplotypes).  相似文献   

17.
In chronic kidney disease (CKD), progressive nephron loss causes glomerular sclerosis, as well as tubulointerstitial fibrosis and progressive tubular injury. In this study, we aimed to identify molecular changes that reflected the histopathological progression of renal tubulointerstitial fibrosis and tubular cell damage. A discovery set of renal biopsies were obtained from 48 patients with histopathologically confirmed CKD, and gene expression profiles were determined by microarray analysis. The results indicated that hepatitis A virus cellular receptor 1 (also known as Kidney Injury Molecule-1, KIM-1), lipocalin 2 (also known as neutrophil gelatinase-associated lipocalin, NGAL), SRY-box 9, WAP four-disulfide core domain 2, and NK6 homeobox 2 were differentially expressed in CKD. Their expression levels correlated with the extent of tubulointerstitial fibrosis and tubular cell injury, determined by histopathological examination. The expression of these 5 genes was also increased as kidney damage progressed in a rodent unilateral ureteral obstruction model of CKD. We calculated a molecular score using the microarray gene expression profiles of the biopsy specimens. The composite area under the receiver operating characteristics curve plotted using this molecular score showed a high accuracy for diagnosing tubulointerstitial fibrosis and tubular cell damage. The robust sensitivity of this score was confirmed in a validation set of 5 individuals with CKD. These findings identified novel molecular markers with the potential to contribute to the detection of tubular cell damage and tubulointerstitial fibrosis in the kidney.  相似文献   

18.
The amount and activity of superoxide dismutase (SOD) (EC 1.15.1.1) were measured in red cells collected from 50 white controls, 101 black controls, 50 patients with sickle hemoglobin (SS Hb), 12 with sickle trait, and 11 with other sickling hemoglobinopathies. Red cells from normal black subjects had more SOD amount and activity than normal whites (1.77 U/mg Hb and 2.96 micrograms/mg Hb vs. 1.47 U/mg Hb and 2.64 micrograms/mg Hb, respectively) or blacks with SS Hb or other sickling hemoglobinopathies. Patients with more severe manifestations of SS Hb had lower levels of SOD activity than those with milder symptoms but had the same amount of enzyme protein. Individuals with sickle trait had amounts and activities of SOD comparable to black controls. An alteration in defense to free radical oxygen may play a role in the severity of symptoms experienced by patients with homozygous sickle cell disease.  相似文献   

19.
Summary Among a small group of Saudi Arabs the Duffy blood group (Fy(a-b-)) was found to be associated with the sickle cell trait more often than could be explained by random gene combination thus supporting the concept that African gene flow brought the sickle cell trait to the Arabian peninsula. Based on recent observations concerning the possible role of Fy(a-b-) as a resistance factor againstvivax malaria, it is proposed that the gene combination AS FyFy is likely to be selected in areas wherefalciparum andvivax infections are endemic and mixed infections occur frequently.  相似文献   

20.
Heterozygosity for the mutant sickle hemoglobin confers protection from severe Plasmodium falciparum malaria. It is here proposed that this protection derives from the instability of sickle hemoglobin, which clusters red cell membrane protein band 3 and triggers accelerated removal by phagocytic cells. This explanation requires that sickle trait cells manifest greater hemoglobin instability than normal red cells, something that could derive from their content of sickle hemoglobin. The mechanism also implicates splenic function as a determinant of the protective effect.  相似文献   

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