Hepatocellular Carcinoma in Patients with Acute Intermittent Porphyria

ABSTRACT In a retrospective study over a 20-year period we found in the Umeå region in Sweden 11 patients (7 women and 4 men, mean age 67 years) with both hepatocellular carcinoma and acute intermittent porphyria. This coincidence was highly significant. Concomitant existence of portal cirrhosis of the liver was demonstrated in those 5 patients in whom it could be examined.     

Diagnosis of acute intermittent porphyria in northern Sweden: an evaluation of mutation analysis and biochemical methods

Abstract. Objective . To validate the use of a recently observed guanine to adenine mutation in exon 10 in the porphobilinogen deaminase (PBGD) gene as a diagnostic marker of acute intermittent porphyria (AIP). To evaluate the efficiency of the traditional biochemical diagnostic methods. Design . Matched and blinded case–control study (1:4). Setting . A primary health care centre in Arjeplog, the National Porphyria Research Unit and a department of clinical genetics in Stockholm. Subjects . A total of 48/49 (98%) patients over the age of 15 years living in Arjeplog with AIP, diagnosed according to standard clinical and biochemical criteria. For each AIP patient, four controls were matched for age, sex and geographical area and 164/196 (86%) participated. In the validity study, 35 patients were selected as indisputable AIP gene carriers, according to strict biochemical criteria, and 92 matched controls were selected with strict exclusion criteria. Main outcome measures . Validity, specificity and sensitivity of DNA diagnosis for this AIP mutation. Specificity and sensitivity of traditional biochemical methods. Results . Validity study: the mutation was found in all 35 individuals classified as carriers of AIP. None of the 92 controls had the mutation. Evaluation study: all 48 AIP gene carriers, diagnosed by traditional methods, had the mutation, as had one of the control persons. In an inconclusive group of five persons with heredity for AIP, two had a positive DNA test. Conclusions . The PBGD mutation analysis was found to have full specificity and sensitivity and can be used as the sole diagnostic method in the family complex studied, representing the major AIP mutation in Sweden. The traditional diagnostic methods, used in optimal combinations, work in most cases, but they do not show high precision. However, they must be used when the specific mutation in the PBGD gene is not known.     

Effect of fluoride addition on ionized calcium in salivary sediment and in saliva containing various amounts of solid calcium fluoride

Abstract – The aim of the present study was to estimate the fluoride concentrations necessary for the precipitation of calcium fluoride or calcium fluoride-like substances in saliva and salivary sediment, in the presence of various amounts of chemically pure calcium fluoride. Fluoride was added in increments to whole saliva to which solid calcium fluoride had been added. The ionized calcium concentration was determined immediately after centrifugation. In salivary sediments and saliva with no calcium fluoride added the ionized calcium concentration was nearly independent of the fluoride concentration added below 10 and 20 mmol/l, respectively, and at fluoride concentration above 15 and 25 mmol/l, respectively, nearly no ionic calcium was detected. In the presence of calcium fluoride the ionized calcium concentration decreased rapidly with increasing concentrations of fluoride. The more calcium fluoride added, the lower the ionized calcium concentration at a certain fluoride level. The results suggested that in the in vivosituation, caries preventive measures based on frequent oral exposure to low concentrations of fluoride may provide calcium fluoride or calcium fluoride-like substances, which will serve as a reservoir for fluoride.     

A microbiologic study of human fissure plague

abstract — The purpose of this investigation was to study colonization and sequencing of oral microorganisms in human tooth fissures. Five human subjects carried a total of 45 crowns of extracted, fully-impacted third molars which were held in place by means of an intraoral appliance. Each specimen was exposed to the oral environment for 1, 2, 3, 5, 7, 9, 12, 15 or 21 d, and prepared under anaerobic conditions for microbiologic analysis of the fissure content. At day 1 and throughout the time sequence studied, cocci (40–70%), Gram-positive rods (20–40%) and Gram-negative rods (5–9%) constituted the predominant flora. Filaments were scarce and were recovered only from plaque more than 15 d old. Approximately 74% of the recovered organisms were acidogenic. S. mutans was found in the fissures of all subjects, but not in all specimens carried by the subjects. The percentage of S. mutans varied largely within the fissures (0–88.9%). S. sanguis was found in amounts equal to S. mutans in all subjects. Lactobacilli were recovered only in a few fissures and then in small numbers. While veillonella was present in all the fissures examined, neisseria was detected in only two subjects.     

HLA-B8/DR3 in sarcoidosis: Correlation to acute onset disease with arthritis

HLA-A, B, C and DR typing was performed in 19 patients with sarcoidosis of acute onset. Besides bilateral hilar lymph node enlargement (BHL), ankle joint involvement was found in all and erythema nodosum in seven. HLA-B8 was present in 13 and HLA-DR3 in 17 of the 19 patients. The joint manifestations and the erythema nodosum subsided in all within three months. The BHL regressed completely in seventeen patients during a three year observation period. In two patients with an observation period of one year and less than six months, respectively, BHL were still visible.
The strong association between the acute, prognostically beneficial manifestation of sarcoidosis and HLA-DR3 might partly be related to the presence of circulating immune complexes in acute sarcoidosis as well as to an immunogenetically determined handling of a postulated etiological antigen.     

Effect of Nifedipine on Cellular Electrolytes in Fourteen Patients with Untreated Primary Hypertension

ABSTRACT. The effect of nifedipine on cellular electrolytes was studied in 14 patients (10 males, 4 females, age 39–62 years) with untreated primary hypertension. Before therapy and after one and three months of treatment, sodium and potassium were analyzed in erythrocytes (ENa, EK). Before and after treatment, potassium and calcium (MK, MCa) were determined in biopsy specimens of skeletal muscle, by use of energy dispersive X-ray fluorescence spectrometry analysis. Blood pressure decreased from 186 ± 23.5/108 ± 8.4 to 156.1 ± 13.8 (p < 0.001)/88.6 ± 7.5 (p < 0.001) and remained constant till the three-month control, 151.8 ± 8.0 (p < 0.001)/88.9 ± 6.6 mmHg (p < 0.001). ENa was significantly higher than in normotensive controls (p < 0.001) and decreased from 11.9 ± 2.7 to 10.1 ± 2.0 mmol/1 (p < 0.05). There was no statistical (pairs of differences) change in EK, MK or MCa when the whole patient series was considered. No relation was seen between family history of hypertension and electrolyte changes. For the 10 male patients a decrease was found in MCa from 1.30 ± 0.25 to l.08 ± 0.17 mmol/1 (p < 0.05). No correlation could be shown between any of the parameters studied, neither in the whole group nor in the males separately.     

Sudden Infant Death in Stockholm

ABSTRACT. During a ten year period, March 1976-February 1986, 83 non-selected consecutive cases of sudden unexpected death in infants, between one week and one year of age, were examined at the Department of Forensic Medicine in Stockholm. Forty-three deaths (52%) were classified as typical or possible cases of Sudden Infant Death Syndrome (SIDS), 35 (42%) as non-violent non-SIDS cases and 5 (6%) as non-natural deaths. Cardiovascular disease, including myocarditis, was found in 21 (25%) instances, infections with inflammatory manifestations in various organs outside the heart in 12 (14%) and miscellaneous, non-violent causes of death in 2 (2%) cases. The male: female ratio was 1.15:1 for SIDS and 1.30:1 for non-SIDS cases. A peak of incidence was found for SIDS cases in infants between two and four months of age, while non-SIDS victims tended to be somewhat older. Ninety-five percent of the SIDS fatalities occurred during the winter months (October-April) as compared to 71% of the non-SIDS cases. Outdoor temperature below the annual mean of 5.9°C in combination with a sudden decrease in temperature was associated with sudden deaths, particularly SIDS. Thirty-three percent of the SIDS victims died in their cribs compared to 51% of the non-SIDS cases. Corresponding figures for deaths outdoors in a pram were 33% and 11%, respectively. Fourteen percent of the infants in both groups died while in bed with one of the parents. Ninety-five percent of the SIDS victims were previously healthy, but in 9% one or more periods of abnormal breathing had been noted. The corresponding figures for non-SIDS were 70% and 3%, respectively. Among the cases of non-natural deaths was one infant who died of heroin poisoning and one of hypothermia.