Endothelial nitric oxide synthase gene mutation and human leukocyte antigen analyzed in three cases of familial vasospastic angina pectoris

A 50-year-old woman with rest angina underwent cardiac catheterization; coronary angiography in the presence of acetylcholine revealed 99% coronary spasm of the proximal left anterior descending artery. The patient's 82-year-old mother was also admitted to hospital with rest angina. Her Holter electrocardiogram showed ST-segment elevation during the attack at rest and coronary angiography showed 99% spasm of the right coronary artery and 90% spasm of the left coronary artery. Both women complained of chest pain during the spasm, which was accompanied by ST-segment depression. The 62-year-old brother of the original patient was also found to have coronary spasm of the left coronary artery. Human leukocyte antigen was analyzed in the 2 women: A2, B51, CW1, DR8 and DQ1 were common factors. A Glu298Asp point mutation of the endothelial nitric oxide synthase gene was investigated in both parents, their 2 daughters and 2 sons, but was not detected in the 3 patients, and was detected only in the 90-year-old father who did not suffer from angina. Nor was the T-786-C mutation found in the 3 cases. Other causes of familial spasm need to be elucidated.     

Extraintestinal manifestations of granulomatous enterocolitis induced in rabbits by long-term submucosal administration of muramyl dipeptide emulsified with Freund's incomplete adjuvant

We examined whether extraintestinal manifestations of granulomatous enterocolitis in rabbits might be produced by the long-term administration of muramyl dipeptide which represents the basic fragment of the bacterial cell wall, emulsified with Freund's incomplete adjuvant. Muramyl dipeptide emulsion was injected submucosally at six sites in the rectum and colon, 10 cm proximal to the anus, each time with a flexible endoscope. Seven rabbits were injected nine times or more every month, and all were sacrificed 1 month after the last injection. The histological changes in the colon in the seven rabbits were mononuclear cell infiltration, epithelioid granulomas, granulomatous lesion, and denuded and regenerative epithelia, although the changes differed in degree. In five of the seven rabbits, histological examination of the liver showed pericholangitis and periductal fibrosis, findings analogous to sclerosing cholangitis in patients with inflammatory bowel disease. In four of the seven rabbits, fibrosis bridging mainly between portal and portal veins, and, in places, between portal and central veins, was seen. Two of the seven rabbits developed polyarthritis. The histological changes in our model suggest that continuous stimulation with bacterial cell wall fragments may be involved in the extraintestinal manifestations of chronic intestinal inflammation such as that seen in inflammatory bowel disease.     

Lack of association of the insulin gene region with Type 1 (insulin-dependent) diabetes mellitus in Japanese subjects

Summary Although the insulin gene region is implicated in susceptibility to Type 1 (insulin-dependent) diabetes mellitus in Caucasians, significance of this region to Type 1 diabetes in Japanese remains unclear because the class 1 alleles (shorter insertion) of the variable number of tandem repeat in the 5′ region of the insulin gene are predominant in both diabetic and non-diabetic subjects. The 5′ insulin gene polymorphism was analysed in 75 Japanese patients and 69 control subjects with a precise method using PvuII and a polymorphism specific probe, which enabled us to divide class 1 alleles into four subclasses. Allelic frequencies were not significantly different between Type 1 diabetic patients and control subjects. The polymorphism in the 3′ untranslated region of the insulin gene (1127/ PstI) was also analysed and found to be tightly linked to the 5′ insulin gene polymorphism, and thus was not associated with diabetes. Interaction between HLA-DR and the insulin gene region, which was reported in the French study, was not observed in Japanese. These results suggest that the insulin gene region is not a valuable genetic risk factor for Type 1 diabetes in Japanese. [Diabetologia (1994) 37: 210–213] Received: 3 May 1993 and in revised form: 31 August 1993     

The effect of calcium-sensing receptor gene polymorphisms on serum calcium levels: a familial hypocalciuric hypercalcemia family without mutation in the calcium-sensing receptor gene

Familial hypocalciuric hypercalcemia (FHH) is a benign syndrome with elevated levels of serum calcium, relative hypocalciuria, and non-suppressed serum parathyroid hormone (PTH) levels. FHH usually occurs by a heterozygous mutation of the calcium sensing receptor (Casr), but some FHH patients show no mutations of the Casr. We encountered a unique FHH family in which the proband and her mother had many calcium deposits on their skin. The proband was medicated with Levothyroxine for hypothyroidism due to an iodine transport defect (ITD). We searched for mutation of the Casr, but found none. The only change distinguishing the proband and her mother from her father was at codon 990, reported to be a polymorphic site. We investigated the frequency of polymorphism at codon 990, but a significant relationship between the three genotypes and the serum calcium concentration was excluded. At the other polymorphic sites at codon 536, 926, 986, and 1011, polymorphisms were rare in Japanese, and we could not confirm a significant relationship. In conclusion, mutation in the Casr gene alone does not explain all cases of FHH. The other mechanisms should be identified.     

Parenchymal changes of the liver in cholangiocarcinoma: CT evaluation.

We evaluated parenchymal changes of the liver in 92 patients (41 peripheral types and 51 hilar types) with cholangiocarcinomas studied by bolus-enhanced computed tomography (CT). In 39% of patients with the peripheral type, a wedge-shaped increased enhancement of the liver was observed peripheral to the tumor on bolus-enhanced CT. Tumor was observed in all cases. In 58.8% of patients with the hilar type, a segmental or lobar increased degree of enhancement of the liver was observed, but the tumor was demonstrated in only 58.8%. Atrophy was accompanied by areas of increased enhancement in 80% of hilar type and 25% of peripheral type. Areas of increased degree of enhancement corresponded to a wedged-shaped perfusion defect on CT during arterial portography. On magnetic resonance imaging (MRI), those lesions showed hyperintensity on T2-weighted images. Most of these changes were considered to be due to reversible hepatic parenchymal ischemia secondary to portal vein invasion by the tumor.     

Decrease of 3-methylhistidine and increase of NG,NG-dimethylarginine in the urine of patients with muscular dystrophy.

The amounts of 3-methylhistidine, N epsilon,N epsilon-dimethyllysine, N epsilon, N epsilon, N epsilon-trimethyllysine, NG,NG-dimethylarginine, and NG,N'G-dimethylarginine were determined in the urine specimens of healthy subjects and patients of corresponding ages with Duchenne, limb-girdle, and congenital types of muscular dystrophy, and motor neuron diseases. The amount of excretion of 3-methylhistidine decreased and that of NG,NG-dimethylarginine increased significantly in Duchenne and limb-girdle types of muscular dystrophy, but not in diseases with neurogenic muscular atrophy. The decrease of 3-methylhistidine was observed consistently throughout the course of the Duchenne type of muscular dystrophy. The amounts of the other methylamino acids both in myogenic and neurogenic myopathies were not different from those in healthy subjects.     

Topographical relationship between the accessory hepatic duct and the hepatic artery system

Anatomical Science International - Hepatic biliary injury is one of the most common complications in cholecystectomy and is frequently accompanied by arterial injuries. Because there are several...     

Evaluation of dimensional accuracy and degree of polymerization of stereolithography photopolymer resin under different postpolymerization conditions: An in vitro study

Statement of problemThe appropriate postpolymerization of stereolithography (SLA) resins with the least effect on dimensional accuracy and with optimal polymerization is unclear.PurposeThe purpose of this in vitro study was to investigate the dimensional accuracy and degree of polymerization of a photopolymer resin for SLA with different postpolymerizing times and temperatures.Material and methodsSixty 1.5-mm-thick specimens were made from clear photopolymer resin with a 3D printer to simulate a maxillary complete denture. They were postpolymerized for different periods (15 and 30 minutes) at 3 different temperatures (40 °C, 60 °C, and 80 °C). Both prepolymerization and postpolymerization gap sizes for each specimen were measured at 5 different locations under a stereomicroscope. The tissue surface was scanned before and after polymerization, and the images were superimposed. The deviation was analyzed by using computer-aided design (CAD) software; root mean square estimates (RMSE) and color map data were obtained. Fourier transform infrared spectrometry was used to determine the degree of conversion (DC) of all specimens. The Kruskal-Wallis and Mann-Whitney tests were used to calculate the difference value of the gap sizes (α=.05). One-way ANOVA and the Tukey test were used for RMSE and DC (α=.05).ResultsThe smallest average change in gap sizes was found at 15 minutes and 40 °C, and the largest change at 30 minutes and 80 °C. The lowest RMSE was obtained at 30 minutes and 40 °C (P<.05). On the color map, a uniform deposited layer was created at 15 minutes and 40 °C and 30 minutes and 40 °C. The highest DC was found at 30 minutes and 60 °C, which differed significantly from 15 minutes and 40 °C (P<.05). The lowest degree of polymerization was found at 30 minutes and 40 °C.ConclusionsThe polymerizing temperature exerted a greater effect than polymerizing time, with lower temperatures leading to improved fit and tissue surface accuracy. The recommended parameters for SLA polymerization are 15 minutes and 40 °C. These conditions offered high dimensional accuracy, favorable surface tissue adaptation, and satisfactory DC.