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Biomedical subjects

A Abrahamov

Publications and source records attributed to A Abrahamov.

At least 73 records · Page 4Linked to original sources
PubMed1993

Abnormal neutrophil chemotaxis in Gaucher disease.

The tendency towards infection described in Gaucher disease patients has been attributed to their post-splenectomy state. We noticed that certain patients with intact spleen have also suffered from recurrent pyogenic infections, thus an attempt to study their neutrophil function has been made. Nine of 29 patients studied expressed significant decrease in neutrophil chemotaxis directed towards zymosan activated serum or N-formyl-methionyl-leucyl-phenylalanine. Random migration was significantly impaired in five of those nine patients. Adherence of neutrophils to nylon fibres and O2- production were intact. The patients with impaired chemotaxis were significantly afflicted by their disease (early onset of symptoms and severity score index > 10) and most of them had genotypes associated with severe disease (1448/1448 and 1226/84GG). No correlation was found with the spleen status. Three of the patients with impaired chemotaxis, and none of the patients with normal neutrophil function, suffered from recurrent pyogenic infections. It is suggested that the described neutrophil migration impairment may contribute to the tendency towards infection in certain patients with advanced Gaucher disease.

Adolescent↗
PubMed1993

Impaired neutrophil chemotaxis in patients with thalassaemia major.

Random and directed migration, O2- production, degranulation and adhesion were studied in neutrophils obtained from patients with homozygous beta-thalassaemia and iron overload, in the presence or absence of thalassaemic serum. The only significant defect found was an impairment in directed chemotaxis, further depressed after addition of thalassaemic serum. The chemotactic defect was encountered in all the patients that have suffered from pyogenic infections except one, and was not correlated with the severity of the iron overload. It is suggested that the described neutrophil migration impairment may contribute to the tendency towards infection in certain patients with homozygous beta-thalassaemia.

Adolescent↗
PubMed1993

Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.

The frequency of nine different mutated alleles known to occur in the glucocerebrosidase gene was determined in 247 Gaucher patients, of whom 176 were of Jewish extraction, 2 were Jewish with one converted parent, and 69 were of non-Jewish origin. DNA was prepared from peripheral blood, active glucocerebrosidase sequences were amplified by using the PCR technique, and the mutations were identified by using the allele-specific oligonucleotide hybridization method. The N37OS mutation appeared in 69.77% of the mutated alleles in Jewish patients and in 22.86% of the mutated alleles in non-Jews. The 84GG mutation, which has not been found so far among non-Jewish patients, existed in 10.17% of the disease alleles among Jewish patients. The IVS + 1 mutation constituted 2.26% of the disease alleles among Jewish patients and 1.43% among the non-Jewish patients. RecTL, a complex allele containing four single-base-pair changes, occurred in 2.26% of the alleles in Jewish patients and was found in two (1.43%) of the patients of non-Jewish extraction. Another complex allele, designated "RecNciI" and containing three single-point mutations, appeared in 7.8% of alleles of non-Jewish patients and in only two (0.56%) of the Jewish families. The prevalence of the L444P mutation among non-Jewish Gaucher patients was 31.43%, while its prevalence among Jewish patients was only 4.24%. The prevalence of two other point mutations--D409H and R463C--was 5.00% and 3.57%, respectively, among non-Jewish patients and was not found among the Jewish Gaucher patient population. The prevalence of the R496H mutation, found so far only among Jewish patients, was 1.13%. The results presented demonstrate that seven mutations identify 90.40% of the mutations among Jewish patients and that these seven mutations allow diagnosis of only 73.52% of the non-Jewish patients. Identification of additional mutant alleles will enhance the accuracy of carrier detection.

Base Sequence↗
PubMed1993

Adult-type Gaucher disease in children: genetics, clinical features and enzyme replacement therapy.

Clinical manifestations of type 1 (Adult) Gaucher disease usually start in childhood. However, most of the previously published data describe the features of this disorder in adults. We present the clinical and genetic characteristics of 34 children and adolescents with type 1 Gaucher disease evaluated in our clinic during the past two years. Patients were aged 2-18 years; 18 were boys and 16 girls. The majority presented before the age of 10. Growth retardation appeared as a prominent feature, with 26% in or below the third percentile in weight, and 30% so in height, especially in the youngest age group (2-5 years). Anaemia and thrombocytopenia occurred in 80% and 60% of the children, respectively. Hepatosplenomegaly was noted in all the children; only 3 were splenectomized. Skeletal involvement was evident on X-rays in 90% of the patients, but only 50% complained of bone pains. Three patients had severe bone disease, with avascular necrosis of the hip joint. Mutation analysis at the DNA level revealed the 1226/1226 genotype in 12 (35%) patients and 1226/84GG in 13 (38%). Correlation was found between the genotypes and the severity of the disease, including growth retardation. A positive response was documented in all 9 patients who completed 12 months of the recently-introduced enzyme replacement therapy for Gaucher disease.

Adolescent↗
PubMed1990

Absence of natural killer cells in a child with pure red blood cell aplasia.

A 16-year old boy was known to suffer from red blood cell (RBC) aplasia from the age of 4 years. Peripheral blood lymphocytes (PBL) from the patient were found to lack natural killer (NK) cytotoxic activity, even after stimulation with alpha-interferon. His PBL also lacked Leu-7+ and Leu-11+ cells, although his granulocytes showed normal expression of the Leu-11 marker. The lack of NK cells did not seem to result from the various immunosuppressive treatments he received, since the NK deficiency was noted 2 years after he stopped receiving such treatment. The possibility is discussed that lack of NK cells may lead to the development of RBS aplasia if NK cells play a role in promoting the production of RBC.

Antigens, Surface↗
PubMed1989

Natural course of atrial septal aneurysm in children and the potential for spontaneous closure of associated septal defect.

Atrial septum aneurysm (ASA), usually involving the region of the fossa ovalis, has rarely been described in children. In this study, the incidence and natural course of this anomaly were prospectively evaluated in 3,500 children referred for echocardiographic examination. ASA was found in 35 patients, 19 female and 16 male (1.0%). Patients were 6 years of age or younger at the time of diagnosis and 18 were neonates. None of the 750 children with normal echocardiograms had ASA. The most common associated lesion was atrial septal defect (ASD), which occurred in 24 of the 35 patients (69%). Other associated cardiac lesions were ventricular septal defect in 10, pulmonary stenosis in 5, patient ductus arteriosus in 4 and coarctation or interruption of the aorta with subaortic membrane in 2. No clinical complications were associated with ASA. Six patients with complex heart disease died. When associated with ASD, the direction of the ASA motion and that of the shunt found by Doppler echocardiography were similar. Fourteen patients with ASD were followed for 0.5 to 4 years. In 8 the ASD closed and in 6 the ASA disappeared. In 6 patients the ASD and ASA persisted until the end of the follow-up (p less than 0.01). Thus, the incidence of ASA in children in this series was higher than previously presumed and usually was associated with other cardiac anomalies, mainly ASD. In children, ASA tends to disappear with age and may have a role in spontaneous closure of associated ASD.

Abnormalities, Multiple↗
PubMed1987

Impaired kinetic properties of hypoxanthine-guanine phosphoribosyl transferase as a cause of uric acid nephropathy in early infancy.

A 6-month-old infant presented with failure to thrive, hyperuricaemia and renal insufficiency. The hyperuricaemia was due to uric acid over-production. The level of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity was found to be normal. However, a two-fold increase in the Km of the enzyme to hypoxanthine as well as in the Vmax values was observed. It seems therefore, that in cases of uric acid over-production, screening tests of HGPRT activity may be insufficient and additional kinetic properties of the enzyme should be tested.

Acute Kidney Injury↗
PubMed1987

Congenital isolated folic acid malabsorption.

We report a case of congenital isolated malabsorption of folic acid, the first in a boy. Only seven previous cases have been reported, and we discuss two aspects--namely, the tendency to infection, with evidence of impairment of both cellular and humoral immunity, and the absence of neurological disturbances.

Anemia, Megaloblastic↗
PubMed1987

Chronic pigmented purpura: a case report of Schamberg's disease.

The syndrome of chronic pigmented purpura (CPP) consists of pigmented macular lesions, predominantly involving the lower extremities. An 11-year-old girl was diagnosed initially as suffering from vasculitic purpura, but the clinical course and the skin histology proved to be consistent with CPP. This syndrome should be included in the differential diagnosis of childhood purpura.

Buttocks↗
PubMed1987

Transient hyperphosphatasemia of infancy.

Very high serum levels of alkaline phosphatase were found in four children aged 13 to 24 months. No other abnormalities nor explanation for the raised enzyme levels were found. The origins of the elevated enzyme levels were shown by isoenzyme studies to be the liver in one case, the bone in two cases, and undetermined in one case. Serum alkaline phosphatase levels returned to normal after periods of 5 to 20 weeks. Awareness of these benign forms of hyperphosphatasemia will aid the physician in the differential diagnosis of elevated alkaline phosphatase levels.

Alkaline Phosphatase↗
PubMed1986

Sweet syndrome in early childhood.

A 21-month-old child with acute febrile dermatosis, leukocytosis and skin biopsy showing intradermal neutrophil infiltrate was diagnosed as suffering from Sweet syndrome. This syndrome is rare in children, described heretofore in only seven paediatric patients. The clinical and histological features, differential diagnosis, as well as the potential association with more widespread systemic diseases are discussed.

Biopsy↗
PubMed1986

Growth failure due to protein loss in dermatitis.

A 10-month-old infant is described who suffered from extensive atopic dermatitis, failure to thrive, hypoalbuminaemia and oedema. Large amounts of sticky exudate were lost through the skin and were shown to be rich in albumin. As renal and intestinal loss of protein was excluded, the patient's condition was ascribed to the loss of albumin through the skin at a rate that out-stripped the synthesis of this protein. Treatment with steroids resulted in dramatic clearing of his dermatitis, and subsequent rapid correction of his hypoalbuminaemia, oedema and anaemia.

Animals↗
PubMed1986

Medical problems in Ethiopian refugees airlifted to Israel: experience in 131 patients admitted to a general hospital.

Within a 2 month period 131 Ethiopian immigrants were admitted for treatment at a general hospital in Jerusalem. There were 52 patients with malaria, 13 with typhoid fever, 24 with pneumonia, seven with tuberculosis, nine with shigella and 11 with campylobacter. Over three-quarters of these patients were anaemic. In the majority of cases anaemia was normocytic and was most probably secondary to malaria and other intercurrent infections. The prevalence of diffuse non-toxic goitre was 7% in children and 19% in adults with a male to female ratio of 4:13. A positive rapid plasma reagin (RPR) test was found in 4% of sera tested and a positive HBsAg in 13%. IgG antibodies to HBc antigen were found in 75% of subjects. All patients with infectious diseases responded to therapy and, despite their poor condition at arrival, there were no fatalities and no late sequelae. The high HBsAg carrier state calls attention to the risk of vertical transmission by infected mothers and underlines the need for active immunization of infants at risk. The high prevalence of untreated tuberculosis and malaria poses a potential public health hazard, but with the current systematic screening of this population leading to identification and effective treatment of affected subjects, chances for the practical eradication of malaria and tuberculosis are excellent. Finally, the large scale transfer of a population from rural Africa to a modern and largely urban society presents a unique opportunity for a prospective study of the impact of environment on the emergence of diseases which plague modern society such as diabetes, atherosclerotic cardiovascular disease, hypertension and cancer.

Adolescent↗
PubMed1984

Familial hereditary thrombocytopenia and HLA.

Three generations of a Jewish family with hereditary thrombocytopenia (HT) are described. The disease was manifested clinically by mild bleeding tendency since infancy. Circumcision, however, did not result in excessive bleeding. HLA study in this family indicated that the HT locus is not linked to HLA.

Adult↗