LDL-apheresis with dextran sulphate and anaphylactoid reactions to ACE inhibitors.
Explore the source record for details and available documents.
Anaphylaxis↗
Biomedical subjects
C Keller
Publications and source records attributed to C Keller.
Bleb leak with hypotony after laser suture lysis and trabeculectomy with mitomycin C.
Explore the source record for details and available documents.
Glaucoma↗
Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia.
Familial hypercholesterolemia is caused by various mutations in the gene encoding the low-density lipoprotein receptor. To date more than 100 mutations have been identified, including insertions and deletions as well as single base changes. In the German population haplotype analysis using four restriction fragment length polymorphisms has recently suggested that there exist at least six different genetic defects. Screening 100 FH patients of German origin for the serine 156 to leucine mutation, originally described in a Puerto Rican family living in the United States, resulted in the identification of the mutation in one family. However, by haplotype analysis the mutation was found on a different haplotype from that reported originally. Based on comparison of the haplotypes and their frequencies we suggest that this mutation has occurred independently at least twice.
Adult↗
Xanthoma disseminatum: a rare normolipemic xanthomatosis.
Xanthoma disseminatum (XD) is a rare benign histiocytic disorder with extensive cutaneous and mucous membrane xanthomas in normolipemic patients. We describe the 9-year course of a 25-year-old white man who presented with multiple brownish-reddish papulous skin tumors that developed over 3 years and remained relatively constant, with spontaneous regression and progression of individual lesions since. In addition, there was asymptomatic xanthomatous infiltration of the epipharnyx and symptomatic infiltration of the synovial membrane of the left knee joint leading to restriction of movement. Histologically, the corium was infiltrated by large lipid-storing macrophages, polynucleated histiocytic giant cells of the Touton and the foreign body type. Immunhistochemically, the lipid-storing cells could be classified as macrophage/monocyte derived cells distinctly different from Langerhans' cells without proliferative activity. The clinical picture and course as well as laboratory findings indicating normolipidemia made it possible to differentiate XD from other normolipemic xanthomatosis, especially juvenile xanthogranuloma, eruptive histiocytoma, and histiocytosis X. The etiology of XD is still unknown. It is possible to differentiate xanthoma disseminatum from malignant histiocytosis X by the clinical picture and immunhistochemical studies. Thus it is no longer justified to administer cytostatic treatment for this disorder.
Adult↗
The effect of the apolipoprotein E polymorphism on lipid levels in patients with familial defective apolipoprotein B-100.
Serum lipid concentrations of patients with familial defective apolipoprotein B-100 (FDB) show a high interindividual variability although the underlying defect is caused by a single point mutation. On the other hand, several genetic factors modulating serum cholesterol levels are known, such as DNA polymorphisms of the apolipoprotein B or the apolipoprotein E (apo E) gene. To assess the effect of the apo E polymorphism on serum cholesterol, lipid levels of FDB patients (n = 36) were compared with those of a normolipidemic control group (n = 272) according to their apo E genotype. For the FDB group mean values of low-density lipoprotein (LDL) cholesterol (mg/dl) were 225.7 +/- 53.7 for E3/2 genotype (n = 3), 234.2 +/- 48.3 for E3/3 genotype (n = 20), and 252.4 +/- 73.8 for E4/3 genotype (n = 13). Means of triglycerides (mg/dl) were 121.0 +/- 21.2, 114.8 +/- 60.7, and 110.0 +/- 62.8 for the respective apo E genotypes. The calculated average effect of the apo E alleles on LDL cholesterol levels was -6.0% for allele e2 and +3.7% for e4 relative to the whole FDB group. The effect on triglyceride levels was +7.5% for e2 and -3.6% for e4. The control group showed a similar variation in LDL cholesterol depending on the different apo E genotypes. About 6% of the total variation in LDL cholesterol can be accounted for by the apo E locus in normolipidemic and hypercholesterolemic individuals alike.
Adolescent↗
Effects of fish oil concentrate on lipoproteins and apolipoproteins in familial combined hyperlipidemia.
The effects of two moderate doses of long-chain n-3 fatty acids (3.0 and 4.5 g EPA+DHA per day for 4 weeks each) on serum lipids and lipoproteins of patients with familial combined hyperlipidemia (FCH) were studied in a double-blind, placebo-controlled clinical trial. In nine patients with FCH n-3 fatty acids led to a statistically significant, dose-dependent fall in very low density lipoprotein (VLDL) triglycerides (3 g/day: -42%, 4.5 g/day: -55%) VLDL cholesterol (3 g/day: -41%, 4.5 g/day: -47%), and VLDL apolipoprotein (apo) B-100 (3 g/day: -40%, 4.5 g/day: -56%). No overall change in low-density lipoprotein (LDL) cholesterol was found, as confirmed statistically. However, when analyzing the data of single patients LDL cholesterol and LDL apo B did not change in five patients but increased dose dependently (from pretreatment 4.80 +/- 0.93 mmol/l to 5.70 +/- 0.93 mmol/l LDL cholesterol after 4.5 g/day) in four. LDL and VLDL composition as indicated by cholesterol/apo B-100 and triglyceride/apo B-100 ratios did not change significantly. High-density lipoprotein (HDL) cholesterol was unchanged; the HDL cholesterol/apo A-I+apo A-II ratio increased by 19% (P < 0.05) during fish oil treatment. We conclude that in FCH moderate doses of long-chain n-3 fatty acids are highly effective in lowering pathological VLDL triglycerides, VLDL cholesterol, and VLDL apo B. LDL cholesterol must, however, be monitored during treatment as it may rise substantially in some although not in all patients with this disease.
Adult↗
Gottron's acrogeria and sarcoidosis.
The case of a 37-year-old male suffering from Gottron's acrogeria and cutaneous sarcoidosis is presented together with a thorough review of the literature. So far about 40 cases of Gottron's acrogeria have been described. An association of sarcoidosis and acrogeria has not been observed to date.
Adult↗
Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.
Familial hypercholesterolemia (FH) is caused by different mutations in the gene encoding the low density lipoprotein receptor (LDLR). In Caucasian patients, at least three single point mutations have been identified causing FH. The asparagine206 to glutamine, and valine408 to methionine mutations were originally described in Afrikaners and recently identified in Dutch FH patients. The proline664 to leucine mutations was previously identified in an FH homozygote of Asian Indian origin and later identified in patients from London. Any of these mutations can be identified using direct amplification of genomic DNA by the polymerase chain reaction (PCR) and restriction enzyme digestion of PCR products. In this study, 100 unrelated German FH patients were screened for these three mutations. The valine408 to methionine mutation was identified in one individual and subsequently in the hypercholesterolemic child of the proband. Haplotype analysis with 7 restriction fragment length polymorphisms (RFLPs) revealed that the mutant allele carried the same haplotype as the previously described patients in South Africa and the Netherlands. Our finding supports the previous assumption of the European origin of the mutation.
Adolescent↗
Relation of lipoprotein(a) to coronary heart disease and duplexsonographic findings of the carotid arteries in heterozygous familial hypercholesterolemia.
In familial hypercholesterolemia (FH) elevated Lp(a) concentrations are more frequent than in the general Caucasian population, but the clinical relevance of Lp(a) as a risk-factor in this group of patients is controversial. In 91 adult patients with heterozygous FH due to LDL-receptor defect we analyzed the correlation between Lp(a) concentrations, presence of coronary heart disease (CHD) and degree of atherosclerosis of the carotid arteries assessed by duplex scan. Coronary heart disease was present in 32 patients (24 males, 8 females). In the group without CHD the median of the Lp(a) distribution was 23 mg/dl, in the group with CHD 43 mg/dl (P < 0.05). The median of Lp(a) was 8 mg/dl in patients without pathological changes in the duplex scan of the carotids, 13 mg/dl in the group with intimal thickening, 25 mg/dl in patients with non-obstructing plaques, and 45 mg/dl in presence of > 30% luminal obstruction (P < 0.01). The role of Lp(a) as an independent risk factor was analyzed by stepwise logistic regression together with age, sex, LDL-, HDL-cholesterol, serum triglycerides, smoking status and presence of hypertension. For the prediction of CHD only age, HDL cholesterol and gender reached statistical significance. Lp(a) was, however, the lipoprotein parameter with the highest discriminative strength for the presence of a pathological duplex scan (P = 0.016), followed by LDL- (P = 0.03), and HDL-cholesterol (P = 0.03). These results provide direct evidence for a close correlation between Lp(a) and the rate of progression of atherosclerosis in FH, already at early, asymtomatic stages.
Adult↗
Variables affecting the reporting of pain following an acute myocardial infarction.
The presence of unreported chest pain (CP) in patients hospitalized with an acute myocardial infarction (AMI) has received only anecdotal mention in the literature, with the exception of one small study. A purposeful sample of seven informants, using an exploratory design and qualitative methods, was used to examine the experience and reporting of CP. The data indicated existence of unreported CP and represented a process of decision-making in response to the symptoms associated with an AMI. The decision-making process involved three stages: the experience of pain, assessing the pain, and taking action. The reporting of pain (or failure to report pain) was found to be influenced by a broad range of internal and external cues that occurred throughout the decision-making process.
Aged↗
Cardiac dysrhythmias associated with central nervous system dysfunction.
Intracranial pathology is frequently associated with cardiac dysrhythmias, which are sometimes lethal. Stroke, subarachnoid hemorrhage, seizures and head trauma with or without increased intracranial pressure are observed to be accompanied by myocardial damage and by ECG abnormalities, including T-wave changes, shortened P-R interval, prolonged Q-T interval, premature ventricular contractions, ventricular ectopy, sinus bradycardia, ventricular and supraventricular tachycardias. Derangements of autonomic function have been shown to be responsible for these disturbances of rate, rhythm and conduction. The autonomic nervous system receives neural input from various parts of the cerebral cortex, the hypothalamus and the brainstem which are extensively interconnected. Although unequivocal data supporting associations between specific neuropathological conditions or damage to specific structures and the observed dysrhythmias do not exist, some evidence for laterality of function does exist in humans. Tachycardia and pressor responses are more common after stimulation of the right insular cortex and after experimental stimulation of the left vagus which innervates the atrioventricular node and the cardiac conduction system. Bradycardia seems to be more common after stimulation of the left insular cortex or the right vagus nerve which innervate the sinoatrial node.
Arrhythmias, Cardiac↗
Genotyping by multiplex polymerase chain reaction for detection of endemic hepatitis B virus transmission.
A nested polymerase chain reaction (PCR) protocol was developed for rapid genotyping of hepatitis B virus (HBV). During the first PCR round, a universal HBV primer pair was used to amplify the entire pre-S region of the HBV genome. Within the pre-S region, many nucleotide exchanges are observed. These are partly correlated to the serological hepatitis B surface antigen subtypes. Five additional subtype-specific primers were selected from that region which, together with two universal non-group-specific primers, generated specific combinations of two to four DNA fragments of defined sizes. By this approach, 55 hepatitis B surface antigen-positive patients from a pediatric oncology unit in Germany were analyzed. Fifty-four patients who had been infected within 2 years had an identical pattern in the multiplex PCR, suggesting a common source of infection and person-to-person transmission within the unit. One child who was infected 5 years later had a different PCR pattern and, therefore, must have been infected from a different source. Furthermore, 109 serum samples taken from pregnant Cameroonian women and 25 serum samples from their babies taken 6 months after birth were analyzed. In one case, mother-to-infant transmission of the virus was demonstrated. Apart from its role in epidemiological studies on HBV, multiplex PCR may also be a useful tool for rapid genetic analysis in other fields if there is a moderate degree of sequence variation which enables the design of specific primers.
Base Sequence↗
Results, principles and pitfalls in the management of renal AA-amyloidosis; a 10-21 year followup of 16 patients with rheumatic disease treated with alkylating cytostatics.
OBJECTIVE: To assess renal functional outcome at 10-21 years in 16 consecutive patients with rheumatic disease, treated with alkylating agents for secondary renal AA-amyloidosis, and to review management principles developed during 21 years. METHODS: Renal function was assessed by S-creatinine and the albumin/creatinine clearance ratio, and arthritic activity by joint score and C-reactive protein (CRP). In the event of signs of renal deterioration, cyclophosphamide, or since 1975 chlorambucil, was given until stable remission of the arthritis was obtained. RESULTS: Of the 7 cases of precipitous uremia that occurred, 4 were not treated with cytostatics at the patients' local hospitals. By 1992, median survival of renal function was 11 years (range 4-21). At 10 years 12 (75%) still had kidneys with preserved function, and at that stage accounted for 22 instances of renal deterioration treated with alkylating agents for periods of 6-45 months (median 13). Renal function was improved in 18 of these instances, and deterioration arrested in 3, the general trend being stabilized or moderately increased S-creatinine and successively declining proteinuria. Prompt institution of corticosteroid treatment is regarded as indispensable at increase of CRP/S-AA due to infection or surgery. CONCLUSION: Our results indicate that the survival of renal function may be substantially prolonged (compared to no treatment) when cyclophosphamide, or preferably chlorambucil, is appropriately administered at signs of kidney deterioration due to active arthritis, and lifelong, continuous monitoring maintained.
Albumins↗
Independent mutation of arginine(3500)-->glutamine associated with familial defective apolipoprotein B-100.
Familial defective apolipoprotein B-100 (FDB) is characterized by a decreased affinity of low density lipoprotein (LDL) to the LDL receptor resulting in a dominantly inherited increase of plasma LDL. It is postulated that FDB is caused by a G to A mutation at nucleotide 10,708 in exon 26 of the apoB gene creating a substitution of glutamine for arginine in amino acid 3500. The arginine(3500)-->glutamine mutation has been identified on the same haplotype of the apoB gene in several populations from North America and Europe, suggesting that it occurred on a single ancestral gene. Independent mutations were not observed. The purpose of this paper is to report on a family where individuals show a dominantly inherited increase of plasma LDL associated with an independent arginine(3500)-->glutamine mutation as determined by haplotype analysis using polymorphic markers of the apoB gene. The identification of these individuals is strong evidence that the arginine(3500)-->glutamine mutation is causative for the defective binding of apoB-100.
Adult↗
Gene manipulation on plastic plates.
Explore the source record for details and available documents.
Genetic Techniques↗
Endotracheal tube safety during electrodissection tonsillectomy.
A case report of an endotracheal tube fire occurring during electrodissection tonsillectomy is presented. The authors believe that this incident occurred because a retrograde leak of ventilating gases around an uncuffed endotracheal tube during positive-pressure ventilation produced a high oxygen concentration in the mouth, allowing indirect ignition of the tube. In vitro testing supported this hypothesis. Ignition tests on polyvinylchloride endotracheal tubes using electrocautery in various oxygen concentrations were performed. As oxygen concentration increased, the endotracheal tube could be moved further from the cautery and still allow ignition of the tube. At 52% oxygen, with the cautery set at 25-W coagulation current, the endotracheal tube could not be ignited. Recommendations to prevent a recurrence of this incident are included.
Child↗
Dichloro-[1-(hydroxyphenyl)-2-phenylethylenediamine]platinum(II) complexes: testing on the human ovarian cancer cell lines NIH: OVCAR3 and SK OV 3.
The diastereoisomeric dichloro-[1-(2-, 3- and 4-hydroxyphenyl)-2-phenylethylenediamine]platinum(II) complexes were tested on two human ovarian cancer cell lines NIH: OVCAR-3 and SK-OV-3, both resistant against cisplatin. Dichloro-[threo-1-(3-hydroxyphenyl)-2-phenylethylenediamine]platinum(II) (threo-5-PtCl2) proved to be the most active representative of the new series, producing cytocidal effects at a concentration range of 2.5 to 5.0 microM on the NIH: OVCAR-3 cell line. On the more resistant SK-OV-3 cell line, threo-5-PtCl2 was only moderately active, while in combination with BSO, a GSH level lowering compound, threo-5-PtCl2 showed a strong synergistic effect.
Adenocarcinoma↗
Detection of transcriptionally active hepatitis B virus DNA in peripheral mononuclear blood cells after infection during immunosuppressive chemotherapy using the polymerase chain reaction.
Using PCR we have studied mononuclear peripheral blood leucocytes (PMBLs) from HBV-infected immunosuppressed patients in order to detect the presence of HBV genomes. Our results indicate that non-transient PMBL infection is common in immunotolerant carriers. In addition, the presence of pregenomic mRNA sequences suggests that virus replication may take place in PMBLs, possibly implicating the latter as a source of virus after replication has ceased in the liver.
Adolescent↗