Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The efficacy of correlating the L/S ratio in the amniotic fluid with fetal lung maturity has been substantiated in normal pregnancies. In gestations complicated by fetomaternal diseases, however, the assay is less reliable. This study involves 555 pregnancies in which there was a significant maternal, fetal, or placental disorder. The L/S ratio was related to fetal respiratory maturity as measured by Dubowitz criteria and the occurrence of RDS. The results show that pre-eclampsia, chronic hypertension, diabetes (Class D, E, F), significant cardiovascular disease, severe hemoglobinopathies, various congenital anomalies, chronic placental insufficiency, and prolonged ruptured membranes accelerated the L/S ration. Conversely, mild diabetes (Class B, C), intrinsic renal disease, hepatitis, collagen disease, hydrops fetalis, syphilis, and toxoplasmosis were associated with a delay in the L/S ratio. A significant increase in erroneous responses was noted in these patients when the L/S ratio was correlated to infant maturity and to the incidence of RDS. Possible mechanisms for these findings are discussed.
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PMID:The lecithin/sphingomyelin ratio in cases associated with fetomaternal disease. 57 73

The role of partial prophylactic red cell exchange transfusion in the management of pregnant patients with major sickle hemoglobinopathies is unclear. Over a 10-year period, 131 pregnant patients with major hemoglobinopathies (HbS 101, HbS-C 30) were managed by the same group of physicians. Of these, 103 received partial prophylactic exchange transfusion early during prenatal care while 28 received blood only when serious complications developed (control group). Patients treated with exchange transfusion received continuous flow erythrocytapheresis on an outpatient basis. The results indicate that there were fewer crises (P = .0001), a reduction in other significant medical complications (P = .002), and a decrease in maternal hospital days (P = .05) in those receiving prophylactic transfusions compared to women in the control group. The number of preterm deliveries (P = .004), the prevalence of low birthweight infants (P = .01), and the perinatal death rate (P = .01) were significantly lower among those who were routinely transfused. Two patients developed hepatitis, five had transfusion reactions, and 11 were found to have alloantibodies among those receiving prophylactic transfusions versus one, two, and five patients, respectively, in the control group. The results indicate a benefit of this methodology in the treatment of pregnant sickle cell patients in our population. However, a national collaborative randomized study is needed to adequately address the controversy regarding the use of red cell exchange in the pregnant sickler.
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PMID:Use of continuous flow erythrocytapheresis in pregnant patients with sickle cell disease. 181 44

A 1-page check-off form that can be used to evaluate a woman's risk factors for oral contraceptives, IUD or diaphragm and spermicide, and provide a permanent health record of the evaluation, has been revised to reflect lower-dose pills and new information. Each risk factor is assigned points in columns under each contraceptive method, so that a score of 10 suggests that a contraindication may exist against that method. Some of the changes for orals are lower scores for age 40, unless other risk factors co-exist, especially smoking. Liver disease, hepatitis and gall bladder disease were eliminated, but liver tumors, endometrial cancer and cholestatic jaundice of pregnancy were each given 10 points. Scores were altered slightly for chloasma, hemoglobinopathies, hypertension and diabetes. Scores for the diaphragm were lowered for pelvic relaxation risk but 5 points were introduced for history of urinary tract infection. For IUDs, multiple sexual partners and abnormal bleeding are added as risks.
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PMID:Family-planning risk-scoring system: updated. 201 9

Although 50% of Indochinese refugees are under 18 years of age, previous studies have emphasized the prevalence of parasites, anemia, tuberculosis, and hepatitis, with few addressing age-related health care needs. In this study the specific health care needs of 80 Indochinese refugee teenagers, evaluated during a 4-year period, were determined. The Centers for Disease Control's suggested screening measures were used, and it was found that 52% had positive purified protein derivative skin tests, 38% lacked immunizations, 35% had stool specimens positive for parasites (prevalence and number of parasites greatest among Cambodians), 14% had blood tests positive for hepatitis B surface antigen, and 10% were anemic. Additional evaluations showed that 19% had hemoglobinopathies, 14% were in or below the fifth percentile for height and weight, 12% had goiters, 12% had skin disorders, 8% had positive hepatitis B surface antigen, 5% had visual defects, 5% had hearing loss, 5% had psychosomatic illness, and 4% had idiopathic scoliosis. Although suggested Centers for Disease Control screening measures may be adequate for younger Indochinese children, these data suggest that additional studies are necessary for teenagers. For the sexually active adolescent, identification of and counseling for hepatitis antigenemia and hemoglobinopathies are crucial. In addition, early identification of emotional and physical problems during screening may enhance assimilation into a new society and facilitate completion of the psychosocial tasks of adolescence.
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PMID:Health care needs of Indochinese refugee teenagers. 379 58

Most pathologic studies of liver disease in sickle cell anemia and its variants were performed retrospectively on autopsy specimens, and, because of the prominent histologic features of intrasinusoidal sickling and Kupffer cell erythrophagocytosis, hepatic dysfunction was attributed to the intrahepatic sickling of erythrocytes in this hemoglobinopathy. We compared the liver histology from 19 patients who had liver biopsies to the autopsy specimens from 32 patients who succumbed to the complications of the hemoglobinopathy. In the former, nine patients had histological evidence of viral hepatitis. Four of these patients had both serological and immunohistochemical evidence of hepatitis B surface antigen. The features of biliary tree obstruction were found in two cases and alcoholic cirrhosis and sarcoid granuloma in one case each. Only one patient, who had recovered from septic shock, showed ischemic necrosis. In five patients incidentally biopsied during cholecystectomy, no significant lesions were found. Fourteen of the autopsy specimens showed ischemic necrosis, a result which was significantly different from the biopsy group. Ten cases had no significant morphologic changes other than heavy iron deposits. There were two cases with chronic active hepatitis, two with diffuse fibrosis, and one case each of cirrhosis, acute viral hepatitis, cholestasis, and giant cell hepatitis. Intrahepatic sickling and erythrophagocytosis were seen in almost all specimens and did not correlate with liver disease or transaminase elevation. Other than the patient with septic shock, ischemic necrosis was found only in postmortem material. These histological features may represent red cell destruction rather than the etiology of liver disease in these patients.
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PMID:Pathological spectrum of liver diseases in sickle cell disease. 394 29

In an effort to clarify the features of hepatic dysfunction in sickle cell disease, we obtained serial tests of liver function in 100 consecutive patients with sickle cell anemia and in 30 consecutive patients with hemoglobinopathy SC during a five-year period. There were 32 patients with chronic abnormalities in tests of liver function. These abnormal tests were explained by a variety of lesions in 30 cases, and the liver disease remained unexplained in only 2 patients who declined liver biopsy. The diagnoses in these 30 patients included hepatitis, chronic passive congestion, common duct obstruction, alcoholic liver disease, pregnancy, collagen-vascular disease, and sarcoidosis. Evidence for hepatitis B infection was present in 19 of those with sickle cell anemia and in 6 of those with hemoglobinopathy SC. The bilirubin levels in sickle cell anemia appeared to have a trimodal distribution, with six patients exhibiting markedly elevated levels of indirect bilirubin suggesting a difference in bilirubin metabolism. There was no evidence of liver disease in 72 patients with sickle cell anemia, nor in 24 patients with hemoglobinopathy SC, as these patients exhibited only mild elevation of their serum indirect bilirubin levels owing to chronic hemolysis. Intrasinusoidal sickling and Kupffer cell erythrophagocytosis were nearly universal findings at liver biopsy, irrespective of the clinical disorder, and were not related to the degree of liver test abnormalities. Liver and biliary tract dysfunction in sickle cell disease have been attributed to anoxia secondary to sinusoidal obstruction by sickled erythrocytes and Kupffer cell erythrophagocytosis. However, some causes of liver disease in sickle cell patients can be explained by clinical disorders other than the hemoglobinopathy alone.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Liver involvement in sickle cell disease. 403 12

Use of oncoretroviral vectors in gene therapy for hemoglobinopathies has been impeded by low titer vectors, genetic instability, and poor expression. Fifteen self- inactivating (SIN) lentiviral vectors using 4 erythroid promoters in combination with 4 erythroid enhancers with or without the woodchuck hepatitis virus postregulatory element (WPRE) were generated using the enhanced green fluorescent protein as a reporter gene. Vectors with high erythroid-specific expression in cell lines were tested in primary human CD34(+) cells and in vivo in the murine bone marrow (BM) transplantation model. Vectors containing the ankyrin-1 promoter showed high-level expression and stable proviral transmission. Two vectors containing the ankyrin-1 promoter and 2 erythroid enhancers (HS-40 plus GATA-1 or HS-40 plus 5-aminolevulinate synthase intron 8 [I8] enhancers) and WPRE expressed at levels higher than the HS2/beta-promoter vector in bulk unilineage erythroid cultures and individual erythroid blast-forming units derived from human BM CD34(+) cells. Sca1(+)/lineage(-) Ly5.1 mouse hematopoietic cells, transduced with these 2 ankyrin-1 promoter vectors, were injected into lethally irradiated Ly5.2 recipients. Eleven weeks after transplantation, high-level expression was seen from both vectors in blood (63%-89% of red blood cells) and erythroid cells in BM (70%-86% engraftment), compared with negligible expression in myeloid and lymphoid lineages in blood, BM, spleen, and thymus (0%-4%). The I8/HS-40-containing vector encoding a hybrid human beta/gamma-globin gene led to 43% to 113% human gamma-globin expression/copy of the mouse alpha-globin gene. Thus, modular use of erythroid-specific enhancers/promoters and WPRE in SIN-lentiviral vectors led to identification of high-titer, stably transmitted vectors with high-level erythroid-specific expression for gene therapy of red cell diseases.
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PMID:High-level erythroid-specific gene expression in primary human and murine hematopoietic cells with self-inactivating lentiviral vectors. 1167 36

The objectives of this study are to determine the trend of maternal mortality at the University of Ilorin Teaching Hospital, to identify the causes of death, and to identify ways of minimizing the frequency of preventable deaths. Analysis of 75 cases of maternal deaths seen over 3 1/2 years (January 1983-June 1986) was conducted. During this period, there were 26,905 births, giving a maternal mortality rate of 279/100,000. 84% of the deaths were due to direct causes while the remaining 16% were classified under the indirect and pregnancy related categories. The main direct causes of death include hemorrhage (35.6%), septicemia (24.7%), and anemia (13.7%). Other direct obstetric causes include eclampsia, anesthetic death, hemoglobinopathy, and ruptured uterus. The most important indirect causes were native drug intoxication (6.8%), fulminant hepatitis (5.5%), and pulmonary embolism (2.7%). The maternal mortality was highest in the age ranges 25-29 years (31.5%). Median age and parity were 27 years and 4.5 respectively. While the maternal mortality rate of 2.8/1000 is an improvement over the previous years' (1972-1982) record of 4.3/1000, it is still unacceptable. The majority of these deaths could have been prevented if delivery had occurred in a well equipped hospital where blood transfusion and surgical facilities are available, if sterile manipulations for pregnant women had been employed, if appropriate antenatal care was available, and if specialist anesthetist services were accessible. Recommendations to reduce the maternal mortality rate include improved education and training of traditional birth attendants, improved immunization of women against tetanus, and increased community involvement through education. Furthermore, policy makers must set new priorities such as encouraging greater investment in improving clinics and hospital facilities, improving access to contraception, increasing awareness of the magnitude of the problem and encouraging community leadership and action.
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PMID:Maternal mortality at Ilorin, Nigeria. 1217 82

The viral C hepatitis is a disease which is often asymptomatic but with a very high risk of death. A prospective survey on multitransfused patients with a high transfusional risk has been conducted between May 1st and September 30th, 2001 in the medical services of the Hospital of Brazzaville. It deals with 252 samples of blood taken on 132 multitransfused patients and 120 control cases who have never been transfused. The screening of antibodies has been performed with ELISA technique by using 2 sensitive tests: the monolisa anti-HCV plus version 2 (Bio-Rad) and BIOTEC HCV a.b. Only monolisa is registered by AFSSAPS. The survey shows a overall seroprevalence of 13.9%: multitransfused patients: 26 out of 132 (19.7%) and control cases 9 out of 120 (7.5%). The prevalence of anti-HCV antibodies is practically similar in both series. It is low among control cases before 20 years old, but important in this same group when the patients are multitransfused. It is very significant among adult control cases, indicating the probability of other transmission modes in this age bracket. Patients suffering from hemoglobinopathy (sickle cell) and from malignant hemopathy paid an heavy toll to the virus with respectively 16.9% and 22% of prevalence even if the sampling is restricted. This results point out the necessary implementation of a systematic screening of all the main viruses before transfusion.
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PMID:[Seroprevalence of viral hepatitis C in polytransfused patients at Central University Hospital of Brazzaville]. 1471 41

The role and value of endoscopic retrograde cholangiopancreatography (ERCP) in the pediatric age group is not well established, because pancreatic and biliary diseases are less common in children. This however is not the case in areas like the Eastern Province of Saudi Arabia where sickle cell disease (SCD) and other hemoglobinopathies are common, with increased frequency of cholelithiasis and choledocholithiasis. The purpose of this study was to evaluate the indications, findings, safety and therapies of ERCP in children. One hundred and twenty five children had diagnostic and/or therapeutic ERCP as part of their management at our hospital. Their medical records were reviewed for: age at diagnosis, sex, Hb electrophoresis, indication for ERCP, findings, therapy and complications. There were 77 males and 48 females. Their age at presentation ranged from 5-18 year (mean 13.25 year). The majority of them had sickle cell disease (77.6%). The indications for ERCP were: obstructive jaundice (67.2%), recurrent biliary colic with or without jaundice (10.4%), acute and chronic pancreatitis (7.2%), postoperative bile leak (2.4%), cholangitis with obstructive jaundice (2.4%), hepatitis of unknown etiology (3.2%), cirrhosis of unknown etiology (4%), thalassemia with jaundice (0.8%), hemobilia (0.8%), acute cholecystitis with jaundice (0.8%), and sickle cell disease with ulcerative colitis and obstructive jaundice (0.8%). In six children, ERCP was done following laparoscopic cholecystectomy. ERCP was carried out under sedation in 91 (72.8%) children and under general anesthesia in 34. It was successful in 121 (96.8%) children while cannulation of the Ampulla failed in four. ERCP was normal in 43 children, but eight of them showed evidence of recent stone passage and in six, there were gallstones. In the remaining children, ERCP revealed: normal CBD with stones (18 patients), dilated CBD with stones (17 patients), dilated CBD without stones (19 patients), dilated biliary tree with stones (10 patients), dilated biliary tree without stones (six patients), bile leak (two patients), dilated biliary tree with stones and choledocho-duodenal fistula (one patient), choledochal cyst (two patients), septate gallbladder (one patient), normal ERCP with multiple pancreatic cysts (one patient) and biliary stricture (one patient). The following procedures were carried out: 35 had endoscopic sphincterotomy and stone extraction, 20 had endoscopic sphincterotomy, four had CBD stenting, one underwent removal of a stent, two had insertion of a nasobiliary tube and one had biliary endoprosethesis. There was no mortality. One had bleeding from the site of sphincterotomy which stopped after adrenaline injection. Four patients (3.2%) developed transient mild pancreatitis which settled conservatively. ERCP in the pediatric age group is safe both as a diagnostic and therapeutic procedure. ERCP can provide valuable information which aid in the diagnosis of biliary and pancreatic diseases in children as well as therapy with the technical feasibility of endoscopic sphincterotomy. This is specially so in the era of laparoscopic cholecystectomy, where ERCP should be the treatment of choice in children with CBD stones who are going or have previously undergone laparoscopic cholecystectomy.
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PMID:Diagnostic and therapeutic ERCP in the pediatric age group. 1714 28


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