Linkage of essential hypertension to chromosome 18q

We performed a genomewide scan with 904 microsatellite markers using 120 extended Icelandic families with 490 hypertensive patients. The families were identified by cross-matching a list of hypertensive patients from the Hypertension Clinic of the University Hospital (Landspitalinn) in Iceland with a genealogy database of the entire Icelandic nation. After adding 5 markers, we found linkage to chromosome 18q with an allele-sharing LOD score of 4.60 (P=2.1x 10(-6)). These results provide evidence for a novel susceptibility gene for essential hypertension on chromosome 18q and show that it is possible to study the genetics of essential hypertension without stratifying by subphenotypes.     

Myxedema ascites

Summary A 74-year-old man presented with mental obtundation and massive ascites without evidence of significant impairment of liver function. Thyroid function studies suggested hypothyroidism. Aspirated ascitic fluid had the characteristics of an exudate. Thyroid replacement therapy resulted in rapid clinical improvement with resolution of the ascites. Prompt recognition of myxedema ascites may prevent the inappropriate use of diuretic agents, therapeutic paracentesis, and sometimes unnecessary laparotomy.     

Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

BACKGROUND: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein comprises several regions and domains for interaction with other proteins, and specific clinical manifestations are associated with the mutation assignment to one of these regions or domains. AIMS: The phenotype in patients without an identified causative APC mutation was compared with the phenotype in patients with a known APC mutation and with the phenotypes characteristic of patients with mutations in specific APC regions and domains. PATIENTS: Data on 121 FAP probands and 149 call up patients from 70 different families were extracted from the Danish Polyposis register. METHODS: Differences in 16 clinical manifestations were analysed according to the patient's mutational status. Two sided independent t sample test, two sided chi(2) test, and odds ratios were calculated. RESULTS: Patients without identified APC mutations had a unique and severe phenotype, which was roughly described as: young age at diagnosis and subsequent death in spite of development of few colorectal adenomas; low risk of involvement of the upper gastrointestinal tract, as reflected by a low mean Spigelman stage, and a low risk of fundic gland polyposis. Finally, they had significantly fewer affected family members, although they do not themselves more often represent an isolated case. CONCLUSIONS: The severe phenotype should be considered when counselling FAP families in which attenuated FAP is excluded and in which a causative APC mutation has not been identified.     

Bedside Coagulometry During Intravenous Heparin Therapy after Coronary Angioplasty

In order to assess the applicability of a bedside coagulometer for measurement of b-APTT, serial blood samples were obtained from 20 patients receiving intravenous heparin treatment following PTCA, and from 5 healthy volunteers. B-APTT was analysed bedside on the Hemochron® coagulometer; p-APTT and p-heparin, measured asfactor anti-Xa activity, were analysed ex-vivo in the laboratory. B-APTT values, determined by the Hemochron coagulometer, were closely correlated to p-heparin (r=0.83, p<0.001, SD=52 seconds (sec), n=89), and duplicate determinations of b-APTT on the Hemochron coagulometer showed an acceptable repeatability. However, an APTT ratio of 1.5–2.5 was not related to a therapeutic p-heparin level, neither as measured by the Hemochron device nor in the laboratory. Abstract. Background: When administering intravenous heparin during angioplasty procedures, a quick and reliable method for safe and effective monitoring of anticoagulation is necessary. Objective: To assess the applicability of a bedside coagulometer, measuring the activated partial thromboplastin time (APTT) in patients receiving intravenous heparin treatment after percutaneous transluminal coronary angioplasty (PTCA). Methods: In patients with stable angina pectoris, receiving intravenous heparin treatment following PTCA, serial blood samples were obtained by venipuncture and from the arterial sheath for analysis of whole blood APTT (b-APTT), and plasma heparin concentration (p-heparin). Additionally, in healthy volunteers blood samples were obtained after a single bolus injection of heparin. B-APTT was analysed bedside on the Hemochron® coagulometer; p-APTT and p-heparin, measured as factor anti-Xa activity, were analysed ex-vivo in the laboratory using conventional analytical methods. Results: In 20 patients a total of 94 venous and 69 arterial blood samples were analysed, and in five healthy volunteers analyses were performed in 20 venous blood samples. B-APTT values, determined by the Hemochron coagulometer, were closely correlated to p-heparin (r=0.83, p<0.001, SD=52 seconds (sec), n=89). An APTT ratio of 1.5–2.5 was not related to a therapeutic p-heparin level, however, neither when using APTT assessed by the Hemochron device nor APTT measured in the laboratory. Duplicate determinations of b-APTT on the Hemochron coagulometer showed an acceptable repeatability; the mean difference between duplicate measurements was 4[emsp4 ] sec (coefficient of variation (c.v.)=6%, p<0.05, n=163). Conclusions: In patients receiving intravenous heparin after PTCA treatment, b-APTT values measured by the Hemochron method showed an acceptable repeatability and were significantly correlated to p-heparin.     

Serum Tg--a sensitive marker of thyroid abnormalities and iodine deficiency in epidemiological studies

Serum Tg is widely used in the control of thyroid cancer but also in the diagnosis of certain other thyroid diseases. Serum Tg may be useful in the characterization of the iodine status of a population, but little is known about determinants of serum Tg levels. We examined a random selection of 4,649 subjects from 2 regions in Denmark with different iodine status. Thyroid volume and structure were determined with ultrasonography, and thyroid function tests and Tg analysis were performed. The factor with the closest association with serum Tg levels was thyroid volume at ultrasonography (P < 0.001). Also thyroid nodularity (P < 0.001) and iodine excretion (P < 0.001) had close associations to serum Tg, even after adjusting for the influence of the other parameters. Thyroid dysfunction had a less pronounced but still highly significant association with serum Tg (P < 0.001), but no relation was found to serum TSH in general. The association with age seemed to rely on differences in the prevalence of thyroid abnormalities, and men had lower Tg levels than women of the same age. There was a marked difference in serum Tg between the two regions with slightly different iodine excretion also after adjusting for the other factors. In conclusion, serum Tg reflects thyroid abnormalities and thyroid function and is a sensitive marker of iodine deficiency in a population.     

Candidaemia and risk of intraocular infection: a Danish hospital-based cohort study

Intraocular infection is a feared complication in patients with candidaemia. We therefore assessed the current risk and prognosis in Danish candidaemia patients. Candidaemia patients at a Danish university hospital were identified prospectively during a 10-y period, 1995-2004, and ophthalmologic records were retrieved retrospectively. Among 203 incident cases of candidaemia, 86 (42%) were examined at least once by an ophthalmologist. Nine patients had retinitis and 1 patient had endophthalmitis; eye involvement was bilateral in 8 and monocular in 2 patients. Lesions were generally mild and progression was observed in only 1 patient. Surgical treatment was not indicated and the median duration of systemic antifungal therapy was 19 d. The median survival time was 77 d for candidaemia patients with eye involvement, 480 d in candidaemia patients without such an involvement, and only 9 d in candidaemia patients without an ophthalmologic examination. In conclusion, the cumulative rate of intraocular infection was 11.6%, but we suspect an underestimation due to the circumstances of the eye examinations and the rapid death of many patients. We continue to recommend eye examinations for candidaemia patients, but timing seems not to be critical if overt signs of infection are absent, thereby facilitating the use of improved diagnostic methods.     

Aseptic colon resection by an invagination technique

A new aseptic colon resection by an invagination technique is presented. The bowel to be resected is invaginated down into the healthy intestine, and the anastomosis is sutured in one layer of continuous suture before transection by a diathermy wire, placed in the intestinal lumen via the anus. Sections of bowel that cannot be invaginated,e.g.,because of a tumor, are first removed by transection between pairs of cable ties, which close the lumen. Twenty dogs were operated on without receiving prophylactic antibiotics. In 10, the intestine was transected between cable ties. An imprint, taken from the anastomosis and subcutis, was cultured. The bacterial count at the anastomosis exceeded 100 in only three cases; in the subcutis, this was the case in one dog. One wound infection developed. Serial barium enemas at 1, 2, 3, and 4 weeks revealed no anastomotic leakage. One early death because of a total anastomotic dehiscence was encountered, and two dogs were killed because of wound dehiscence and anastomotic stricture, respectively. It is concluded that, in dogs, the method is easily and safely performed, but further experimental studies are needed.This study was supported with grants from Fonden til Laegevidenskabens Fremme, Kraeftens Bekaempelse, Sygekassernes Helsefond, and Aarhus Universitets Forskningsfond.