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Objective: Synpolydactyly (SPD, MIM 186000), also known as syndactyly type II, is a dominantly inherited limb malformation with incomplete penetrance and variable expressivity. Polyalanine tract expansion in HOXD13 has been shown to be the disease-causing mutation in SPD. The present study was designed to identify mutation in HOXD13 and to provide prenatal diagnosis, in a large Chinese SPD family consisting of 54 individuals., Methods: The proband and 4 other affected individuals in the family were evaluated physically and radiologically to ascertain the SPD phenotype. Genomic DNA was extracted from peripheral blood samples obtained from 18 family members (9 affected and 9 unaffected), and from amniotic fluid and chorionic villus samples obtained from the proband during her two consecutive pregnancies. With the use of a pair of specific primers, a fragment of 161bp was amplified by polymerase chain reaction (PCR) to cover the imperfect GCN triplet repeat sequence in exon 1 of HOXD13 encoding the 15-residue polyalanine tract. The PCR products were detected by agarose gel electrophoresis, and sequenced after cloning into pMD18T vector. To confirm prenatal diagnosis, haplotype analysis was also performed by allele-typing three microsatellite markers, including the intronic CA repeats in HOXD13., Results: Digital and radiographic findings indicated a typical SPD phenotype in the family. These included 3/4 finger syndactyly and 4/5 toe syndactyly with an extra digit in the syndactylous web. Unilateral finger syndactyly in the proband, unilateral toe syndactyly in 2 individuals, bilateral brachydactyly of the fifth toes in 1 individual, and clinodactyly of the fifth fingers in 4 individuals were also observed, indicating variable expressivity. Gel electrophoresis of the PCR products showed an additional longer fragment in all 9 affected individuals but not in the unaffected ones. Sequence analysis of the longer fragment revealed a 9-alanine expansion. The expansion was detectable in DNA from the amniotic fluid and chorionic villus samples. Furthermore, haplotype analysis ruled out potential contamination of the maternal DNA. These suggested that the two fetuses carried the same polyalanine expansion., Conclusion: HOXD13 polyalanine expansion was detected in a large Chinese family with SPD and prenatal diagnosis of two affected fetuses was achieved. This is the first report on prenatal diagnosis of SPD by detecting the HOXD13 polyalanine expansion in the Han population of the Chinese mainland.

The Emergency Medical Services (EMS) aims to improve the survival rate of patients who are dead on arrival (DOA) at hospital, particularly those whose coronary artery disease (CAD) has induced sudden death. Based on the low prevalence of CAD-induced sudden death in Taipei city, as well as the differences between urban and rural communities in Taiwan, an understanding of the characteristics of rural areas is necessary in order to establish a well-organized and cost-effective EMS policy in this country. The data were drawn from a computer database which stored prehospitalization information from Ilan County from 1992 through 1994, including age, sex, response time, time spent on the scene, transportation time, service unit, reasons for emergency call and trauma mechanism. In 1096 study days, 20058 cases (18/day) were collected, of which 16560 (15/day; 83.6%) were transported to hospital. Trauma was responsible for the majority (77%) of these cases, followed by chronic diseases (4.0%), trivial matters (2.6%), drunkenness (2.3%), altered mental status (2.3%), suicide attempt (2.2%), and cardiac arrest (1.8%). Among the trauma cases, traffic accidents were the most common cause (84%); motorcycle accidents comprised 65% of trauma cases. The average response time was 6.6 minutes, time spent on the scene was 3.6 minutes, and transportation time was 17.7 minutes. Trauma and non-trauma accounted for half of the DOA cases, with each making up 0.9% of the total cases transported. In conclusion, it is important that the EMS needs of each community are known for a proper system appropriate to that particular area to be developed.

All intelligence tests are for children old than two and a half years; we still do not have an intelligence assessment tool for children younger than this age. If we knew the relationship between the intelligence quotient and developmental indices as measured by the Bayley Scale of Infant Development (BSID), it would allow us to assess the mental development of young children earlier and to start adequate management sooner. The present study was designed to meet this need. We collected our data from a six-year follow-up study of Yu-Cheng (oil disease) children born to mothers who had a history of ingesting rice cooking oil contaminated with polychlorinated biphenyls (PCBs) in 1978-1979 and their matched controls. We analyzed the correlations between the developmental indices of the BSID assessed on 44 pairs of Yu-Cheng children and their controls in 1985 and the Stanford-Binet Intelligence Quotients (S-B IQ) assessed on the same group of children in 1987 and 1988. For the matched controls, we found practically no significant correlation between the BSID developmental indices and the S-B IQ (r = .04-.20, p = .23-.82). In the Yu-Cheng children, that is at-risk group, there was a significant correlation between the Mental Developmental Index (MDI) of BSID and the S-B IQ (r = .33-.43, p = .01-.05) and between the Psychomotor Developmental Index (PDI) of BSID and the S-B IQ (r = .31-.47, p = .00-.07). We conclude that the development indices of BSID has a better predictive power on the intelligence among the at-risk group such as Yu-Cheng children.

In a 3-month period (January to March, 1992), patients with rectal temperature below 35 degrees C detected by an electrical rectal thermometer (Diatek, Inc, San Diego, CA) were enrolled. In addition to treatment of the underlying diseases, the patients were rewarmed with either a heating lamp (core temperature > 32 degrees C) or warm fluid intravenous infusion and/or gastric lavage (core temperature < 32 degrees C). Patients' vital signs, serum potassium, pH, initial temperature, mean weather temperature, underlying disease and outcome were recorded and compared between survivors and non-survivors. We collected 23 cases with mean age of 71.6 years and mean core temperature, 33.32 degrees C (29.4-34.9 degrees C). The diagnosis included hypoglycemia in 7 cases, sepsis in 3 cases, active TB in 2 cases, HHNK in 1 case, DKA in 1 case, UGI bleeding in 1 case, parkinsonism in 1 case, intracerebral hemorrhage in 1 case, urinary tract infection in 1 case, brain tumor post operation in 1 case, arrhythmia in 1 case, senile dementia in 1 case, COPD in 1 case and lung CA in 1 case. 12 (52%) cases died during admission. No significant difference in clinical parameters was noted between survivors and non-survivors. In conclusion, although in subtropic area, the hypothermic patients in our country cannot be overlooked. As patients are usually elder and have other diseases, the prognosis is correlated with the severity of the underlying disease. Alert, intensive care, prevention and treatment of the complications that arouse, and careful rewarming are necessary for management of such patients.

The purpose of this study is to adapt the Delphi Study method in establishing a consensus of good doctor characteristics from a panel of department heads (N = 22) at four medical colleges in Taiwan within three given categories: 1. professional knowledge and techniques; 2. attitudes and standards; and 3. interpersonal relationship. In this study three rounds of questionnaires were administered to the panel to extract their opinions regarding the characteristics of good doctoring. 76 items of good doctoring characteristics were solicited from the department heads at four medical colleges to the opening questionnaire. The conclusive results indicated that 15 of these 58 items were ranked as the most important characteristics by panel members. The findings from this investigation will help facilitate the decision making process of officials regarding innovation in the training of good doctor. Moreover, the conclusions could be included in developing and planning of instruments for the future doctor evaluation methods.

Barium intoxication, a rare cause of hypokalemia, can sometimes result in respiratory paralysis and ventricular tachyarrhythmia. Herein, we report one such case. A 29-year-old man swallowed barium-contaminated fried flour-coated sweet potatoes. Then, abdominal discomfort, vomiting, diarrhea, progressive muscular weakness, apnea and ventricular tachycardia developed and laboratory data revealed profound hypokalemia. He regained his health after mechanical ventilation, anti-arrhythmic agent and aggressive potassium chloride supplement. Analysis of blood, urine and contaminated flour showed the presence of barium carbonate. Barium intoxication is a medical emergency which requires rapid therapy to prevent mortality.

Chronic atrial fibrillation is the most common arrhythmia in patients with mitral valve disease, it not only deteriorates cardiac output, but also promotes a 5.6 times higher incidence of thromboembolic events. Nevertheless, the exact mechanism of atrial fibrillation is still poorly understood. Moreover, the long-term results of treatment, either by drugs or cardioversion, are almost always disappointing. Recent investigations suggest that atrial fibrillation is probably due to intraatrial multiple reentrant waves. It is also well-known from animal experiments that for sustenance of the fibrillation a critical mass of atrium is necessary. Based on these data, a new surgical method has been carefully designed to reduce atrial mass and to prevent sustenance of fibrillation. Between July and December 1988, five patients, one male and four females, with mitral valve disease and chronic atrial fibrillation were selected for this new surgical method. The age distribution ranged from 25 to 57 years, with a mean of 36 +/- 13 years. All of them had chronic atrial fibrillation which had been documented for more than one year. The operation was performed using the cardiopulmonary bypass and cardioplegia myocardial protection techniques. The left atrium was opened via the interatrial sulcus. After the mitral valve was repaired, cryosurgery (-60 degrees C for 120 sec) was applied along the borders of the left atrial free-wall. The left atrium was separated by these cryolesions into two sections, each about half the mass of the original and both sections were connected with a few atrial fibers located behind the coronary sinus. No surgical mortality or complications were encountered.(ABSTRACT TRUNCATED AT 250 WORDS)

Cavernous hemangioma of the heart is a very rare disease. A 57-year-old male patient was admitted due to frequent onset of dull chest pain, which had been occurring for about 1 year. The pain was not related to exercise and was not relieved with nitroglycerin. On echocardiographic examination, a tumor was shown in the outflow tract of the right ventricle and was confirmed with computer tomography. He underwent open heart surgery for resection of the tumor. After a median sternotomy and opening of the pericardial cavity, a reddish-brown-colored tumor, 3 cm in diameter, was found protruding from the epicardial layer of the right ventricular outflow tract. The tumor involved all layers of the ventricle and could be resected only with the help of the cardiopulmonary bypass technique. The defect in the right ventricle was repaired with a woven dacron patch. The patient recovered without incident after the operation, and experienced no chest pain during 7 months of follow-up. Histology showed it to be a cavernous hemangioma.

The content of norepinephrine (NE) and epinephrine (E) in the brain of spontaneously hypertensive rats has proved abnormal, but the cause remained unknown. It was shown in the recent work that NE content in pons, posterior hypothalamus, nucleus caudatus and E concentration in medulla oblongata, anterior and posterior hypothalamus of 12-week old stroke-prone spontaneously hypertensive rats (SHRSP) were much higher than those of age-matched Wister-Kyoto rats (WKY). SHRSP also showed higher levels of systolic blood pressure (SBP) and brain angiotensin II (A II) than WKY. Intracerebroventricular (icv) perfusion of angiotensin-converting enzyme inhibitor captopril (20 micrograms for each time and three times for each day for four weeks) inhibited the synthesis of brain A II and reduced SBP and NE, E contents in all examined brain areas in SHRSP and WKY. However, the effects of chronically perfused captopril on SBP and brain NE, E levels in SHRSP were much more significant than in WKY. The results indicate that the modulatory effects of central renin-angiotensin system (RAS) on central adrenergic and noradrenergic system might be overactivated in SHRSP, which might partially responsible for the abnormally high levels of NE, E in some of the brain areas of SHRSP.

This work analyzed the relationship between A I concentration in aorta tissue and systolic blood pressure (SBP) in stroke-prone spontaneously hypertensive rats (SHRSP) at different ages. The SBP of SHRSP increased progressively with the age until the age of 20 weeks, when the SBP of SHRSP no longer elevated but sustained at a relatively high and stable level. The A I concentration in aorta of SHRSP was much higher than that of Wistar Kyoto rats at all of the three different ages. Perfusion of captopril into the lateral cerebroventricle of SHRSP for four weeks evoked a considerable decrease of A I concentration in brain as well as a significant reduction of SBP accompanied by a decrement of A I concentration in aorta and concentration of norepinephrine and epinephrine in aorta tissue and plasma. The results further confirm the close relationship between the changed activity of renin-angiotensin system localized in blood vessels during hypertension and the pathogenesis of hypertension, and indicate the possible regulative control of A I generated from central nervous system over the production of A I from blood vessels by means of facilitating the activity of peripheral sympathetic nerve system.

Recently we have isolated Trichomonas hominis from diarrheic stools of a patient and established it in an axenic culture medium. The procedures are as follows: Diarrheic stool containing numerous trophozoites was first inoculated into the TYM (Trypticase Yeast extract Maltose) medium of Diamond (1975) to establish a polyxenic culture. Antibiotics, containing penicillin (1000 U/ml), streptomycin (1000 micrograms/ml), and cephalosporin (20 micrograms/ml) were added to prevent overgrowth of bacteria and fungi. After several passages, a specially-designed culture-tube was employed to separate T. hominis from the contaminants. The isolated T. hominis was then introduced into the modified TYI-S-33 (Trypticase Yeast extract Iron-Serum-33) medium of Diamond (1978). The organism established itself readily to this axenic culture medium. Sterility tests employing fluid thioglycollate, nutrient broth, and blood agar plate gave negative results indicating the absence of contaminants. The axenic culture of T. hominis provides us with a source of pure flagellates for biological, biochemical, and immunological studies.