1986年 · 第99卷第07期

In order to diagnose and prevent chromosome diseases, 2,319 cases of chromosome analysis were chosen from those seen in our genetic counseling clinic between April 25, 1973 and June 27, 1985. 1,140 males and 1,179 females were examined. G banding was used routinely. When necessary, CTG QFQ, N-banding, SCE, Lx, G-11 technics, X-body, Y-body and high-resolution G-banding technics were also employed. The Karyotypes of 39 patients with chromosome variants and 198 patients with chromosomal anomaly are discussed. Among them 49 cases of 27 kinds have never been reported in the literature.

Using ultrasonography we measured the living structures of the eyeball in patients with angle-closure glaucoma (ACG) and their first degree relatives (siblings and offspring). The results indicate that the occurrence of ACG is closely related to the anatomical features of the eyeball and that genetic factors play an important role in the development of ACG. For further exploring the hereditary pattern of ACG, a thorough investigation of ACG patients' pedigree, incidence in relatives, sex difference and the freqLtency of consanguineous marriage was under taken. The results show that polygenic inheritance is most likely the hereditary pattern in ACG. Falconer's model of polygenic inheritance is used to explain the hereditary pattern in ACG patients. The heritability of ACG is 65%, indicating that genetic factors are more important than environmental ones in the development of ACG. We also studied the association between ACG and the human leucocyte antigen (HLA) and the erythrocytic blood groups ABO, MN, P and Rh system. These blood group antigens can not be used as genetic markers for inheritance of ACG, because no significant association is found between them.

Of 21 cases of malignant melanoma clinically diagnosed and studied with fluorescein angiography, 18 were confirmed pathologically. In 14 cases the lesions were located in the temporal part of the fundus. Pigment deposition in the tumor area and retinal derachment were found in most cases. On fluoresceub angiography, the most common feature was nonfluorescence with a distinct margin in early transit. Four cases showed an early irregular fluorescent. Four cases showed an early irregular fluorescent vessel pattern on a nonfluorescence or hypofliuorescent background. Retinal capillary dilated, mottled fluorescence increased with time and hyperfluorescent dots appeared in nearly all cases.

Immature teratoma of the ovary is characterized by early recurrence after primary surgery and frequent metastasis to the upper abdomen, particularly to the surface of right lobe of the liver. 10 patients with recurrent tumors of the liver, 8-20 cm in diameter, and 1 patient with recurrent tumor of the lung were presented. Five patients in whom the hepatic tumors were left untouched died after secondary laparotomy with a median survival of 6.6 months, while another 5 survived after the resection of the recurrent tumors of the liver, the longest survival being 20 years. It is of our opinion that the unique retroconversion of differentiation of immature teratoma from malignancy to benignity and the superficial nature of invasion and resectability of the recurrent liver tumors render this life-saving procedure worthwhile and practicable.

120 patients with clinically and laboratorially confirmed myasthenia gravis are analyzed. There is a significant correlation between serum anti-acetylcholine receptor antibody (AchR Ab) titer and absolute clinical score (the severity of muscle weakness) or the percentage of decrement of the amplitude of evoked potentials during repetitive stimulation (Δ%) by Jolly test of the abductor pollicus brevis and abductor digiti quinti (J-A) and deltoid muscle (J-D), and of regional curare test (RCT, P<0.001). There is poor correlation between AchR Ab titer and clinical classification. It is better to use an absolute and relative clinical scoring method for recording the severity of muscle weakness and judging the efficacies of various therapeutic measures.

Acute respiratory infections (ARI) are studied two years in a Beijing suburban rural area, with a population of 2,190. The incidence was that of the world average for a semirural temperate zone area, it was lower than that in the city proper and was highest in the 0-3 year age group with no significant sex difference in occurrence. ARI peaked in December and January during the study. It was mostly of viral origin. The bacterial carrier rate of the healthy children was generally high. ARlis the most common pediatric disease in infants and children, and annual ARI incidence for 2-year-old babies was 199.8%. The incidence declines steadily with age. Pneumonia and bronchiolitis were severe ARI infections concentrated in the 0-4 age group, accounting for 83 per 1,000 children in the area. Children are considered high risk cases if they have 5 or more ARI per year, children with rickets require special protection. Upper respiratory tract infections are caused first by adenoviruses and second by respiratory tract infections viruses, bacterial infection influenza viruses. Lower are usually caused by RS is negligible.

A CT classification of hypertensive intracerebral hemorrhage (HIH) based on retrospective study of CT findings and therapeutic results in 503 cases was done for predicting prognosis and selection of treatment in different types of HIH. This study showed that in mild putaminal, thalamic, cerebellar, subcortical and pontine hemorrhage surgery is not indicated because the result of conservative management is usually good; in severe putaminal, subcortical and cerebellar hemorrhage surgical intervention gives better outcome than conservative treatment.

The bioptic specimens of primary hepatocellular carcinoma in 43 cases prepared by routine paraffin and ultrathin section. Under light microscope, they were divided int0 3 grades on the basis of the criteria put forward by WHO: Grade I, well differentiated (11.6%); Grade II, moderately differentiated (69.8%); and Grade III, poorly differentiated (18.66%). In general, the ultrastructural appearance of Grade I hepatoma cells was similar to that of normal liver cells with intact membrane systems, whereas the membrane systems in Grade III hepatoma were incomplete and the nuclei of the cells showed obvious abnormality. The ultrastructural study of hepatoma may provide a theoretical and practical basis for histological grading and is valuable for therapy and prognosis.

Legionellosis diagnostic methods to date arc mainly isolation of Legionnaires' disease bacteria (LDB), direct immunofluorescence test, and serological diagnostic methods. This paper reports isolation of a strain of L. pneumophila from the sputum of a female pneumonic patient. The strain was preliminarily designated NJ 8331 by us. Results of all the microbiological and serological identifications indicate that the culture and biochemical characteristics, pathogenicity, cellular fatty acid composition, anti biotic susceptibility, electron micrograph and antigenicity of NJ 8331 strain were identical to those of LDB stock culture of America type culture collection. Detection of NJ 8331 strain by direct immunofluore-rescence with FITC-Labelled anti-L. pneumophila serogroup 1-6 immunoglobulin demonstrated that NJ 8331 strain belonged to L. pneumophila serogroup 6 (Chicago 2).

Using vertical slab electrophoresis on polyacrylamide gel, a total of 11 activity bands are displayed, they are designated as GGT I-XI in order of their distance from the positive pole. Positive GGT II was found in 81(90%) of 90 cases of primary hepatic carcinoma (PHC), in 9(90%) of 10 cases of secondary hepatic carcinoma (SHC), and in only 4 (less than 5%) of 128 cases of acute and chronic hepatitis. A patient with ampulla of Vater carcinoma had positive GGT II but possible hepatic metastasis was not excluded. No GGT II was displayed in 250 healthy persons and 21 pregnant women. PHC with AFP less than 50ng/ml has a positive GGT II rate of 84.6% whereas in cases with negative GGT II the positive rate of AFP is only 44.4%. The data show that GGT II is of significant sensitivity, specificity, predictability and accuracy in hepatoma diagnosis.