Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.7.10.1 (ERK)
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The maternal deaths occurring in the Kilimanjaro Christian Medical Center (KCMC), which serves as a supraregional reference hospital for the 5 regions of Northern and Central Tanzania, are reviewed for the 1971-1977 period and avoidable factors are discussed. All deaths occurring within the hospital during pregnancy or the first 6 weeks of the puerperium were included in this survey. Postmortem examination was performed in 35% of the cases. In the remaining cases the diagnosis was made on clinical grounds. During the period under review, there were 10 deaths among 83 cases, a mortality of 12%. The major cause of rupture was obstructed labor associated with a contracted pelvis or abnormal lie. 25% of the patients had had a previous cesarean section scar give way. 2 other deaths were attributed to anesthetic accidents and 1 was probably due to pulmonary embolism. The primary cause of death in the 7 remaining cases was hemorrhage (4) and sepsis (3). If deaths from ruptured uterus are to be avoided, early diagnosis is essential. 1044 cases of moderate and severe EPH gestosis (preeclampsia) were treated in KCMC during the period under review together with 54 cases of eclampsia. There were 5 deaths among the patients with eclampsia, a mortality of 9%. In addition to the 11 sepsis deaths there were 3 others included among the cases of ruptured uterus. There were 4 cases of septic abortion and 3 of those admitted to criminal interference. Preexisting anemia was a complicating factor in 5 cases, all of whom died within 15 minutes of arrival. There were 4 deaths among 251 cases of ruptured ectopic pregnancy. There were 10 deaths associated with cesarean section among 1271 sections peformed during the period under review. Deaths from associated diseases included the following: enterocolitis (12 deaths); renal and hypertensive disease (4 deaths); cardiac disease (2 deaths); anemia (2 deaths); malaria (2 deaths); tuberculous meningitis (2 deaths); and miscellaneous associated conditions (11 deaths).
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PMID:Maternal deaths in the Kilimanjaro region of Tanzania. 47 24

Of 104 cases, 38 (ie, 36.53%) experienced premature delivery (controls: 4.32%). In instances of threatened premature delivery, 28 cases (26.92%) underwent ligation of the cervix. EPH gestosis occurred in 62 cases--a high incidence rate of 59.61% (controls: 12.9%). Forty-nine cases (47.11%) were complicated by anemia (controls: 8.36%). There were 57 cases of SFD infants, again a high 27.40% incidence rate (controls: 5.94%). Apgar scores of 7 or less at 1 minute after birth indicated that of the 208 neonates, the second-born twin only in 20 cases (9.61%); both infants in 14 cases (6.73%); and, the first-born only in 3 cases (1.44%), developed asphyxia neonatorum. Given the high incidence of premature and immature infants in cases of twins, caution should be employed against threatened premature delivery from around the 28th week of gestation onwards. Ligation of the cervix with ritodrine administration should be performed following admission to hospital, and EPH gestosis, anemia and IUGR should be carefully monitored.
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PMID:Perinatal management of twin pregnancy. 130 25

An analysis of 2280 puerperas who delivered newborns with the birth weight of 2500 g up to over 4000 g in the first half of 1989 at the Clinic for Obstetrics and Gynecology in Sarajevo had been conducted. Age, parity, body weight increase during pregnancy, and their socio-economic status was investigated. All newborns were divided into several groups according to birth weight: 2500-3000 g, 3000-3500 g, 3500-4000 g and over 4000 g. Puerperas with hypertension before pregnancy, EPH gestosis, anaemia and pyelonephritis were excluded. It has been found that newborns with birth weight between 3000-3500 g, the most desirable weight, were delivered by mothers who had a body weight increase of about 12.6 kg during pregnancy. Their average age was 25 years among primiparas, and 27 among multiparas; they were high-school graduates. American authors consider a weight increase of 8 kg during pregnancy as the most ideal for a good outcome. Vitality of newborns measured by the Apgar score was satisfying, with minor deviations in the group with birth weight over 4000 g.
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PMID:[Correlation between certain parameters in pregnancy and body weight and the vitality of the neonate]. 209 47

Details are given of a study of blood samples from 24 patients with Hb H disease from different Mediterranean countries and from the Far East. Four different types of alpha-thal-1 (--) were observed, namely -(alpha) (approximately 20.5-kb deletion); --MED-I (approximately 17.5-kb deletion); --MED-II (greater than 26.5-kb deletion); and --SEA (approximately 18-kb deletion, in Orientals only). The alpha-thal-2 was mainly of the deletion type (16 with the 3.7-kb deletion; 1 with the 4.2-kb deletion), while 4 of the 7 patients with a nondeletional type had the five-nucleotide deletion at the donor splice site of the first intron of the alpha 2 gene. All patients had a mild-to-moderate hemolytic anemia; no significant differences in hematology were observed between the groups. Hb A2 was decreased to about one-third of the normal level. The Hb H formation varied considerably and its quantitation was not always satisfactory. Patients with Hb H disease due to any alpha-thal-1 combined with a nondeletional alpha-thal-2 had the highest Hb H levels and a more marked anemia. The zeta chain production was small and absent in patients with the MED-II type of alpha-thal-1 because this deletion included the zeta and psi zeta genes. The highest zeta chain levels were present in the four patients with the SEA type of alpha-thal-1. The gamma chain production was increased, particularly in patients with a mutation of C----T at position -158 to the G gamma globin gene. This gamma chain was primarily present as Hb Bart's (or gamma 4) and only about 15% was recovered as Hb F or alpha 2 gamma 2. The evaluation of the rate of gamma chains produced in these patients was greatly facilitated by data from one patient who had Hb H disease and a heterozygosity for the A gamma-beta+-HPFH. The low levels of Hb A2 and of Hb F (relative to Hb Bart's) can be explained by a decreased affinity of alpha chains for delta and gamma chains as compared with beta chains in conditions of severe alpha chain deficiency.
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PMID:The levels of zeta, gamma, and delta chains in patients with Hb H disease. 256 76

Serum erythropoietic activity and reticulocyte response to anemia were investigated using a rabbit model. In hemolytic anemia, induced by injections of phenylhydrazine on Day 0 the hemoglobin reached a nadir (mean, 6.23 g/dl) on Day 4 when SEA was maximal (mean, 765 mU/ml). In animals venesected on Day 0 and Day 1 to produce anemia of equal severity, the SEA was maximal (mean 235 mU/ml) on Day 2. In both groups the reticulocyte response peaked on Day 7--at 34% for the hemolytic group and 21% for the venesected group. The 2,3-diphosphoglycerate, measured on Day 4, was significantly reduced in the PHZ-treated group. In the venesected group the 2,3-DPG increased between Day 0 and Day 4. There were no concurrent changes in acid-base balance. These results imply that the degree of anemia is only one of the factors which influence the level of circulating SEA.
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PMID:Serum erythropoietic activity in acute anemia--an animal model. 271 49

The clinical spectrum of HbH disease varies from a benign disorder to a severe anemia which is blood-transfusion dependent. Heterogeneity at the clinical level is now being understood in terms of the underlying molecular defects. In this study a mild phenotype found in a group of patients with HbH disease is associated with two types of alpha-thalassemia. These are: alpha+-thalassemia (-alpha 3.7/) and alpha 0-thalassemia (--SEA/). In contrast, a second group with more severe HbH disease has a non-deletional alpha-thalassemia defect instead of alpha+-thalassemia (genotype alpha alpha T/--SEA). In the majority of cases, the basis for non-deletional alpha-thalassemia is Hb Constant Spring.
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PMID:A molecular marker associated with mild hemoglobin H disease. 276 43

Little information exists about the effect of working during pregnancy on pregnancy outcome. In order to determine whether pregnancy outcome was altered when women were employed outside their homes, pregnancy outcomes of 4,395 working women were compared with outcomes of 10,203 women (control) who were not employed. The pregnancy outcomes of working women were also analysed according to the occupation and working hours. Irregularity of the menstrual cycles prior to the pregnancy was observed more frequently in the working women than control (19.5% vs 14.9%, p less than 0.001). There were significant differences between the employees and control in rates of spontaneous abortion and premature delivery (6.8% vs 5.4%, p less than 0.01), spontaneous vaginal delivery (80.7% vs 84.5%, p less than 0.001), small-for-gestational age infant (SGA) (4.6% vs 3.4%, p less than 0.001), and fetal distress (7.6% vs 6.5%, p less than 0.02). However, no statistical differences were noted in rates of EPH gestosis, gestational anemia, neonatal hyperbilirubinemia, perinatal death, or malformation prevalence. Among the 1,888 employees, rates of threatened abortion and threatened premature delivery, and spontaneous abortion and preterm delivery were significantly higher in the working women whose actual work were longer than eight hours per day than those with a shorter work; that is 13.7% vs 10.4% (p less than 0.05) and 9.3% vs 6.1% (p less than 0.02), respectively. Overall the results are reassuring that working during pregnancy is in itself a risk factor for adverse outcome.
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PMID:[Epidemiological studies on the outcome of pregnancy and delivery of the female employees]. 331 27

We have studied nearly 100 patients with beta-thalassaemia major and 60 patients with Hb H disease who were attending the Haematology Clinic of Guangxi Medical College. Treatment of the patients was limited and only a few patients with beta-thalassaemia major received blood transfusion(s). As a result, the severe anaemia has led to early death at 3-4 years for beta zero-thalassaemia homozygotes, and 8-12 years for beta(+)-thalassaemia homozygotes. Four beta-thalassaemia alleles are responsible for nearly 90% of all beta-thalassaemia chromosomes. This information has resulted in the initiation of a prenatal testing programme at the local level. The patients with Hb H disease maintained a haemoglobin level of 6-10 g/dl and early death was infrequently observed. The --SEA deletion was the major type of alpha-thalassemia-1, while three smaller deletions (-2.7, -3.7 and -4.2 kb) and two nondeletional alpha-thalassaemia determinants (Hbs Constant Spring and Quong Sze) were the alpha-thalassaemia-2 types.
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PMID:Alpha and beta thalassaemia among Chinese children in Guangxi Province, P.R. China: molecular and haematological characterization. 751 67

We have studied two babies with Hb H disease from birth to about six months of age and analyzed the changes in the relative quantities of the five globin chains (zeta, alpha, beta, G gamma, A gamma) and the four hemoglobins (Hb F, Hb A, Hb Bart's, Hb H) using different high performance liquid chromatography procedures. The types of Hb H disease were -(SEA)/-alpha(3.7 kb) and -(Fil)/-alpha(3.7 kb); the larger -(Fil) deletion includes the functional zeta 2-globin gene, explaining the higher zeta chain level in the baby with the -(SEA)/-alpha(3.7 kb) type. The functional hemoglobin level at birth (Hb A+Hb F) was 11 to 12 g/dl with 3 to 4 g/dl Hb Bart's (gamma 4). Only 5% of the "fast-moving" hemoglobin was Hb H (beta 4). The level of Hb F at birth was low (less than 50% of the total Hb A+Hb F). After birth, the alpha and gamma chain production decreases rapidly resulting in a severe anemia (total functional hemoglobin approximately 7 g/dl) at 30 to 60 days postnatally, improving gradually to 8.5-9.5 g/dl at age of three months. The preferential formation of Hb A over Hb F at birth, and presumably prenatally, has the advantage that the level of the highly unstable Hb H is kept low; it also results in low levels of Hb F impairing the oxygen transfer capability of the fetal blood.
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PMID:Postnatal changes in the quantities of globin chains and hemoglobin types in two babies with Hb H disease. 841 3

The thalassaemias are a major group of genetic disorders in Southeast Asia that affect the production of the alpha-globin chain (alpha-thalassaemia) or the beta-globin chain (beta-thalassaemia) of the haemoglobin. As a result of defective globin chain synthesis, individuals with this disorder show varying degrees of anaemia due to ineffective erythropoiesis and haemolysis. The presence of abnormal haemoglobins in thalassaemia patients has enabled the detection of thalassaemia using immunological methods which have certain advantages over the conventional diagnostic methods. This paper reviews the application of various types of antibodies against the different types of haemoglobins used for the detection of thalassaemia. The developed antibodies include the polyclonal antibodies against Hb Bart's and Hb H; monoclonal antibodies (mab) against Hb H, used in a sandwich enzyme-linked immunosorbent assay (ELISA), for detecting carriers of (--SEA/) deletion and deletions involving the complete zeta-alpha-globin gene cluster, such as (--alpha FIL/), (--alpha THAI/) and (--HW/), which are the common deletional alpha-thalassaemias in Southeast Asians; mab against zeta-globin chains used in an immunocytological test, for the detection of adult carriers of (--SEA/) deletion except for (alpha 20.5/), (--alpha FIL/) and (--alpha THAI/) (this simple test is useful in identifying couples at risk of conceiving foetuses afflicted with the Hb Bart's hydrops foetalis syndrome due to homozygous alpha-thalassaemia); mab against Hb A2 and beta- and gamma-globin chains used for the quantitation of Hb A2 in beta-thalassaemia and the diagnosis of beta-thalassaemia major in foetuses respectively; other mabs produced to date include those specific to haemoglobins D-Los Angeles, J-Baltimore, O-Arab and J-Paris-I.
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PMID:Production of monoclonal and polyclonal antibodies against various haemoglobins for the detection of thalassaemias. 877 51


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