Search

Background Multiple studies have uncovered the effects that ingested fat has on human blood levels of testosterone. Yet, few reports have discussed the effect of circulating serum free fatty acids (FFAs). The present study aimed to explore the relationship between serum free fatty acids and blood levels of testosterone. Methods In total, 5719 adults were pooled from the database of the National Health and Nutrition Examination Survey (NHANES) from 2011 to 2012. Based on multivariable-linear regression models, we employed a total of 30 FFAs to interpret the relationship of FFAs with blood levels of testosterone. Two models with covariate adjustments were designated for further evaluation and analysis. Results Capric acid [β = -0.014, 95% confidence interval (CI) = -0.023, -0.004, P = 0.005], myristic acid (β = -0.001, 95% CI = -0.001, 0.000, P ≤ 0.001), pentadecanoic acid (β = -0.013, 95% CI = -0.018, -0.008, P ≤ 0.001), margaric acid (β = -0.011, 95% CI = -0.017, -0.005, P ≤ 0.001) and alpha-linolenic acid (β = -0.001, 95% CI = -0.002, 0.000, P = 0.004) in the fully adjusted model were significantly negatively correlated with the testosterone level inh obese men. In the fully adjusted model for the female analysis, myristic acid, pentadecanoic acid, palmitic acid, margaric acid, stearic acid, myristoleic acid, oleic acid, nervonic acid and alpha-linolenic acid were found significantly associated with the testosterone level. Conclusions Our findings indicate a significant negative correlation between serum FFAs and blood levels of testosterone. Furthermore, we reveal the essentiality of serum FFAs and their potential effects on the reduction of testosterone levels.

目的 比较含不同剂量兔抗人胸腺细胞球蛋白（rATG）预处理方案单倍型造血干细胞移植（haplo-HSCT）对恶性血液病患者的疗效。 方法 对2013年3月至2018年12月行haplo-HSCT的恶性血液病患者进行回顾性分析，按预处理方案中rATG总量6、7.5、9 mg/kg分为ATG-6、ATG-7.5、ATG-9三组，比较三组患者急性移植物抗宿主病（GVHD）发生率、感染发生率及生存率。 结果 ①纳入288例患者，男182例，女106例，中位年龄18（6～62）岁。急性髓系白血病（AML）128例，急性淋巴细胞白血病（ALL）110例，慢性髓性白血病（CML）8例，骨髓增生异常综合征（MDS）28例，混合细胞白血病（MAL）14例。ATG-6组159例，ATG-7.5组72例，ATG-9组57例。移植后中位随访时间为14.0（0.2～74.0）个月。②ATG-6、ATG-7.5、ATG-9组粒细胞植入率分别为96.9％、97.2％、96.5％（P＝0.972），血小板植入率分别为92.5％、87.5％、86.0％（P＝0.276），Ⅱ～Ⅳ度急性GVHD发生率分别为14.5％、11.1％、8.8％（P＝0.493），慢性GVHD发生率分别为8.8％、14.3％、12.0％（P＝0.493）。ATG-9组的CMV、EBV感染率（77.2％、12.5％）均高于ATG-6组（43.3％、3.5％）和ATG-7.5组（44.4％、1.5％）（P

Our study aimed to investigate miR-193a-3p expression and its clinical significance in pituitary adenomas (PAs). Moreover, the correlation between miR-193a-3p expression and the invasiveness of PAs was explored.In this study, the relative expression levels of miR-193a-3p were detected via quantitative Real Time-Polymerase Chain Reaction (qRT-PCR). The correlations between miR-193a-3p and tumor size, clinical features, and prolactinomas postoperative prolactin (PRL) levels early remission were further analyzed.Compared with non-invasive PAs, there was a lower miR-193a-3p expression in invasive PAs. MiR-193a-3p expression had reverse relevance to tumor size. A higher risk of postoperative residual and recurrence was found in patients with downregulated miR-193a-3p. Prolactinomas patients with postoperative PRL levels early remission were at lower risk to relapse and patients with high-expression miR-193a-3p had a higher early remission rate, suggesting that miR-193a-3p was a significant prognostic factor for prolactinomas.MiR-193a-3p could have potential therapeutic value for invasive pituitary adenomas.

Background Diabetes mellitus (DM) is a well-known risk factor for cognitive dysfunction in aged populations. However, there are inconsistent reports about impaired fasting glucose or prediabetes as an independent risk factor for cognitive function. Glutamic acid decarboxylase 65 (GAD65) is the key enzyme responsible for γ-aminobutyric acid synthesis in the central nervous system. Antibodies against GAD65 (GAD65Abs) are not only detected in approximately 80% of early-onset type 1 DM, but also linked to several neurological disorders. Aim This study aims to investigate the association between GAD65Ab titer levels and cognitive performance. In addition, we assessed the effect of GAD65Ab on cognitive function in adults with normal fasting glucose, prediabetes and DM. Methods A total of 328 subjects aged 49.10 ± 5.72 years were enrolled from the Third Health and Nutrition Examination Survey dataset. Cognitive performance was assessed by three computerized neurobehavioral tests, including the serial digit learning test, simple reaction time test (SRTT) and symbol-digit substitution test (SDST). Results Subjects with higher GAD65Ab titers had significantly poorer cognitive function in the SRTT and SDST (P Conclusions These results indicate that GAD65Ab may be a potential marker for cognitive impairment in non-diabetic adults.

Detecting a single serum marker, such as Golgi protein 73 (GP73) or alpha-fetoprotein (AFP), may not meet the requirements for the early diagnosis of hepatocellular carcinoma (HCC) due to low sensitivity and specificity. Therefore, this study aimed to develop a simultaneous multiplex assay of GP73 and AFP.Anti-human GP73- and AFP-coupled microsphere beads and biotin-labeled detectable antibodies were prepared to develop a multiplex assay of GP73 and AFP using the Luminex xMAP technology. The assay was evaluated for cross-reactivity, standard curve, sensitivity, range of detection, and precision. Additionally, the assay was used to determine the levels of serum GP73 and AFP in healthy controls and patients with chronic hepatitis, liver cirrhosis, and HCC.The multiplex assay was successfully developed to simultaneously detect GP73 and AFP without cross-reactivity. The sensitivity for GP73 detection was 0.215 ng/mL and that for AFP detection was 0.666 ng/mL. The ranges of GP73 and AFP detection were 0.98-861.08 ng/mL and 2.01-1848.73 ng/mL, respectively. The intra- and inter-assay coefficients of variation (CVs) were10%, indicating good precision, with recovery rates of 75-125%. The levels of serum GP73 in healthy controls, chronic hepatitis patients, liver cirrhosis patients, and HCC patients were 61.64 ± 30.60 ng/mL, 208.4 ± 99.42 ng/mL, 183.7 ± 82.78 ng/mL, and 214.1 ± 160.5 ng/mL, respectively. The levels of serum AFP in healthy controls, chronic hepatitis patients, liver cirrhosis patients, and HCC patients were 24.87 ± 14.52 ng/mL, 134.4 ± 216.5 ng/mL, 66.45 ± 133.4 ng/mL, and 891.4 ± 1278 ng/mL, respectively. The receiver operating characteristic (ROC) results showed that the area under the curves (AUC) for the combination of GP73 and AFP was 0.972, which was larger than the AUC for each marker. The sensitivity and specificity of the combined detection of GP73 and AFP for the diagnosis of HCC were 90.91% and 98.86%, respectively. The multiplex assay demonstrated a good correlation with enzyme-linked immunosorbent assay (ELISA), with correlation coefficients of 0.818 and 0.982 for GP73 (p0.001) and AFP (p0.001), respectively.A multiplex assay for the simultaneous detection of GP73 and AFP with high sensitivity and accuracy was developed for the diagnosis of HCC. This assay may provide a reliable reference for the early diagnosis of HCC.

To study the alteration of CD8+ memory T cell subsets under different immune statuses during the spontaneous clearance of hepatitis B virus (HBV) in Chinese patients with chronic HBV infection.We analyzed Chinese patients with chronic HBV infection including 10 patients with Hepatitis B surface Antigen (HBsAg) spontaneous seroconversion, 25 patients with Hepatitis B virus e Antigen (HBeAg) spontaneous seroconversion, 25 patients with chronic hepatitis B (CHB), and 25 chronic HBV carriers. The CD8+ T cells in peripheral blood were isolated, and flow cytometry was used to determine the percent change of CD8+ T memory cell subsets. ELISA was used to measure the levels of Interferon-γ (IFN-γ) secretion from CD8+ T cells.(1) The percentage of CD8+ TN cells in peripheral blood was lower in the HBsAg seroconversion group than in the HBeAg seroconversion group (p0.01), and higher in the CHB group and chronic HBV carrier group (p0.01, 0.01); (2) The percentage of CD8+ TEM-2 memory T cells in peripheral blood was higher in the HBsAg seroconversion group than the HBeAg seroconversion group (p0.05), CHB group, and chronic HBV carrier group (p0.01, 0.01); (3) The percentage of CD8+ TEM-1 and CD8+ TCM cells in peripheral blood was higher in the CHB group and HBV carrier group than the HBsAg seroconversion group and HBeAg group, but there were no significant differences between groups (p0.05); (4) IFN-γ production from CD8+ T cells in peripheral blood was higher in the HBsAg seroconversion group than the HBeAg seroconversion group (p0.05), CHB group, and chronic HBV carrier group (p0.05, 0.01).The consistent increase of CD8+ TEM-2 cell subsets may be an important cause of spontaneous clearance of HBV. The disorder of CD8+ memory T cell differentiation may be an important mechanism of chronic HBV infection.

We compared the outcomes of endovascular coiling with microsurgical clipping of aneurysms in a Taiwanese population. In an ambi-directional cohort design, patient baseline characteristics and clinical course after treatment for ruptured subarachnoid aneurysm were abstracted from medical records from three hospitals to examine and compare differences in post-operative outcomes between those treated with endovascular coiling and those treated with microsurgical clipping. Outcomes were measured, using the modified Rankin scale, two months, one year and two years postoperatively. Of the 642 patients enrolled in the study, 281 underwent endovascular treatment and 361 underwent neurosurgery. The demographics and baseline characteristics of two groups were comparable except for a larger maximum target aneurysm lumen size (p=0.02) in the endovascular group. Patients who underwent the endovascular procedure tended to have a better quality of life than those who had neurosurgery (p Our study indicated that endovascular coiling achieves results comparable to surgical clipping for patients with ruptured subarachnoid aneurysms in a Taiwanese population.

A variety of inflammatory disorders influence the serum white blood cell (WBC) count. Elevated systemic inflammatory insult may contribute to impaired lung function, such as obstructive or restrictive lung disease. The aim of our study is to investigate the correlation between WBC count and pulmonary function.Eligible participants aged ≥18 years (n=16 312) were enrolled from the United States National Health and Nutrition Examination Survey III, 1988-1994. Pertinent information including pulmonary function test, demographics, WBC count, glucose, C-reactive protein and a personal health questionnaire were obtained for subjects without known pulmonary diseases. White blood cell counts were classified into quartiles over the normal range. Multiple hierarchical regression models and trends testing were used to assess the correlation between WBC counts and pulmonary function tests.In the unadjusted mode of quartile-based analysis, the beta coefficients interpreted as the differences in FEV1% predicted upon comparing subjects in the upper three quartiles of WBC count to those in the lowest quartile were -0.007, -0.022 and -0.041 (P0.001). After adjusting for multiple pertinent covariates, inverse association between quartiles of WBC count and FEV1% predicted remained essentially unchanged. The negative trends between FEV1% predicted and WBC count quartiles in the stratified comparison with extended-model approach were statistically significant (P for trends0.001) in quartile-based multiple linear regression.Elevated WBC count is independently associated with declined pulmonary function. It may be a simple, accessible and inexpensive indicator of changes in pulmonary function.

Purpose : Most electric wheelchairs available on the market are joystick-controlled making people with hand or arm disabilities unable to control the wheelchairs easily. This study proposes a new head-orientated wheelchair design for people with disabilities. Method : This study involves a tilt sensor module fitted onto the operator's headgear that will sense head movements used to control the wheelchair's direction and speed. This system includes: the tilt sensor module, the signal processing circuit and a main controller. Results : The average times required for completing experiments by seven volunteers using joystick-controlled and the newly developed wheelchairs were recorded. It was revealed that the difference in average operating time for the two wheelchairs were statistically insignificant ( p >0.05). Conclusions : The wheelchair developed in this study, although not absolutely superior to the joystick-controlled method, should still provide a better alternative for people with disabilities unsui...

Purpose : To improve the operating speed of the traditional row-column scanning computer keyboard-mouse composite panel controlled using a single key. Method : Using a single mouse input control window can avoid scanning unnecessary keyboard characters, thereby increasing the speed in performing mouse commands. In addition, the surface electromyographic (SEMG) sensing input can also be used to provide an input option for the disabled. Results : Eleven volunteers operated the single mouse input control window using the SEMG input and the traditional computer keyboard-mouse composite panel controlled using a single key. The average operating times were 121.3 &#45 8.9 sec and 208.6 &#45 10.7 sec, respectively. The difference was statistically significant ( p

This study aimed to examine the attendance rates of post-discharge supervised rehabilitation as recommended by the multidisciplinary team at discharge among subacutely disabled adults and the barriers preventing adherence.Patients were from a community hospital, aged 40 years or older. They had been assessed by a multidisciplinary team to benefit from rehabilitation after discharge, were mentally competent and communicative. We used a sequential qualitative-quantitative mixed methods study design. In the initial qualitative phase, we studied the patient-perceived barriers to adherence to rehabilitation using semi-structured interviews. Emerging themes were then analysed and used to develop a questionnaire to measure the extent of these barriers. In the subsequent quantitative phase, the questionnaire was used with telephone follow-up at 3, 6, 9 and 12 months after discharge.Qualitative phase interviews (n = 41) revealed specific perceived financial, social, physical and health barriers. At the start of the quantitative phase (n = 70), 87.1% of the patients viewed rehabilitation as beneficial, but overall longitudinal attendance rate fell from 100% as inpatient to 20.3% at 3 months, 9.8% at 6 months, 6.3% at 9 months and 4.3% at 12 months. The prevalence of physical and social barriers were high initially but decreased with time. In contrast, the prevalence of financial and perceptual barriers increased with time.Attendance of post-hospitalisation rehabilitation in Singapore is low. Self-perceived barriers to post-discharge rehabilitation attendance were functional, social, financial and perceptual, and their prevalence varied with time.

BACKGROUND: A mouse is an important communication interface between a human and a computer, but it is still difficult to use for the elderly or disabled.OBJECTIVE: To develop a low-cost computer mouse auxiliary tool. METHODS: The principal structure of the low-cost mouse auxiliary tool is the IR (infrared ray) array module and the Wii icon sensor module, which combine with reflective tape and the SQL Server database.RESULTS: This has several benefits including cheap hardware cost, fluent control, prompt response, adaptive adjustment and portability. Also, it carries the game module with the function of training and evaluation; to the trainee, it is really helpful to upgrade the sensitivity of consciousness/sense and the centralization of attention. The intervention phase/maintenance phase, with regard to clicking accuracy and use of time, p value (p< 0.05) reach the level of significance. CONCLUSIONS: The development of the low cost adaptive computer mouse auxiliary tool was completed during the study and was also verified as having the characteristics of low cost, easy operation and the adaptability. To patients with physical disabilities, if they have independent control action parts of their limbs, the mouse auxiliary tool is suitable for them to use, i.e. the user only needs to paste the reflective tape by the independent control action parts of the body to operate the mouse auxiliary tool.

BACKGROUND: People use upper limbs to conduct daily activities. When recovering from injuries, many patients neglect the importance of rehabilitation, which results in degraded function. OBJECTIVE: Rehabilitation after treatment of an injury is very important. This study proposes to improve and enhance the effectiveness of rehabilitation practice. METHODS: A patient record of the training process using the traditional rehabilitation hand gliding cart is produced by using a magnetic sensing element in the panel, a servo host computer, and other devices. RESULTS: Clinical evidence shows that the training aids help significantly with the rehabilitation of patients with impaired upper limb function and reduce negative impacts from the disability in daily life and activities.CONCLUSIONS: This study has combined the gliding cart with reed switches, such that when the patient moves the cart, the movement tracks can be observed via the activated reed switches. The training data are collected and quantified for a better understanding of the recovery status of the patients. Each of the participating patients makes progress as expected.

The acceleration period that occurs during isokinetic tests may provide valuable information regarding neuromuscular readiness to produce maximal contraction. The purpose of this study was to collect the normative data of acceleration time during isokinetic knee testing, to calculate the acceleration work (Wacc), and to determine the errors (ERexp, ERwork, ERpower) due to ignoring Wacc during explosiveness, total work, and average power measurements. Seven male and 13 female subjects attended the test by using the Cybex 325 system and electronic stroboscope machine for 10 testing speeds (30-300 degrees/sec). A three-way ANOVA was used to assess gender, direction, and speed factors on acceleration time, Wacc, and errors. The results indicated that acceleration time was significantly affected by speed and direction; Wacc and ERexp by speed, direction, and gender; and ERwork and ERpower by speed and gender. The errors appeared to increase when testing the female subjects, during the knee flexion test, or when speed increased. To increase validity in clinical testing, it is important to consider the acceleration phase effect, especially in higher velocity isokinetic testing or for weaker muscle groups.

Many patients who suffer from spinal cord injuries with paraplegia cannot recover to walk independently. They need to use a special walking orthoses to support their body to walk properly. Traditionally, long leg braces (LLB) were fitted to patients for walking. Unfortunately, the results were not satisfactory as this device supplies adequate support with less than optimum mobility. This study used the latest reciprocating gait orthosis (RGO) combined with functional electrical stimulation (FES). This combination provides a greater support range while applying assistant mechanical walking structures. The FES co-ordination helps restore natural walking abilities that the paralysed patient has lost.This study developed a walking orthosis with FES, using FES to stimulate specific muscles (quadriceps, hamstring) in the paralysed patients' lower limbs. The proposed method can achieve the benefits of physical therapeutics while paralysed patients can achieve the purpose of walking. The FES is designed with control buttons on the walking orthosis. A patient can control the left or right leg in walking and speed control via the control buttons.Several practical tests were conducted on the new walking orthosis. A 25-year-old female paralysed patient (L1 complete spinal cord injury) used traditional LLB, RGO and RGO with FES to proceed with walking rehabilitation and clinical assessment. Heart rate difference (HRdifference), mean blood pressure (MBPdifference), walking speed, length of steps, number of steps and oxygen consumption comparisons were made before and after walking. The results show that RGO and RGO with FES were both better than LLB. However, the differences between RGO and RGO with FES in HRdifference, MBPdifference, and walking speed were not significant. This is because the patient's right leg reaction to the electrical stimulation was relatively low.In general, RGO can help the patient achieve quicker and more independent walking. The combination of RGO and FES can increase the effectiveness of RGO for more mobile aid. These two walking orthoses are better than traditional LLB. Both methods provide patients who suffer from paraplegia with better choices.

The study aims to evaluate the pharmacokinetics and urinary excretion of eprosartan in Chinese healthy volunteers and to study the effect of gender on pharmacokinetics of eprosartan. Twenty healthy volunteers (ten men and ten women) were recruited for an open trial and received a single dose of 600 mg eprosartan. Using a validated LC/MS/MS method, plasma and urinary concentrations of eprosartan were determined. The following pharmacokinetic parameters were elucidated after administration: the area under the plasma concentration versus time curve from 0 to 32 h (AUC0-32h) 14818.75 +/- 7312.11 ng x h/mL, the area under the plasma concentration versus time curve from 0 to infinite (AUC(0-infinity)) 15081.62 +/- 7379.63 ng x h/mL, peak plasma concentration (Cmax) 3664.25 x 1653.94 ng x h/mL, time to Cmax (Tmax) 1.63 +/- 0.46 h, elimination half-life (t(1/2)) 8.03 +/- 4.04 h, apparent clearance (CL/F) 47.84 +/- 19.21 L/h, apparent volume of distribution of the central compartment (V/F) 537.21 +/- 287.91 L, renal clearance (CLr) 1.33 +/- 0.41 L/h, amount of unchanged eprosartan excreted into urine 18.44 +/- 6.43 mg and fraction of unchanged eprosartan excreted into urine 3.07 +/- 1.07%. Our results also indicated that no gender differences were observed in the pharmacokinetics of eprosartan in Chinese healthy volunteers.

The pharmacokinetics and safety of recombinant human parathyroid hormone (1-34) [rhPTH (1-34)] after single ascending doses were evaluated in Chinese healthy volunteers. Nine healthy volunteers (five male and four female) were recruited for an open label, randomized, three multiply three crossover, single ascending dose (10, 20, and 40 microg) study. Using a validated radioimmunoassay, we determined the plasma concentrations of rhPTH (1-34). The mean peak plasma concentration (Cmax) were 123.6, 195.6, and 318.2 pg x mL(-1) respectively, and were reached from 25.6 to 36.1 min after subcutaneous administration. After Cmax was reached, the plasma drug level decreased quickly, with elimination halflife (t(1/2)) of 53.9 to 64.1 min. The mean AUC(0-infinity) (the area under the plasma concentration versus time curve from time zero to infinite) of rhPTH (1-34) were 11794.2 +/- 974.8, 21606.7 +/- 4753.9, 33877.0 +/- 8374.4 pg x min x mL(-1), respectively. The mean AUC(0-t) (the area under the plasma concentration versus time curve from time zero to the last quantifiable concentration) of rhPTH (1-34) were 9034.4 +/- 1073.9, 17883.3 +/- 4597.1, 31693.5 +/- 6574.8 pg x min x mL(-1), respectively. Dose-related linear trend were observed for AUC(o-t) and Cmax of rhPTH (1-34). t(1/2) and Tmax (time to Cmax) of rhPTH (1-34) were independent of administered dose. rhPTH (1-34) was safe and well tolerated by all volunteers.

Chiglitazar is a dual alpha/gamma peroxisome proliferator-activated receptor (PPAR) agonist. A LC-MS/MS method for the determination of chiglitazar was developed and validated. The assay used 0.2 mL of plasma. 90% acetonitrile containing internal standard was used for protein precipitation. The mobile phase contained 70/30 (v/v) of methanol and water at a flow rate of 0.25 mL/min. Detection was by negative ion electrospray tandem mass spectrometry on a Sciex API 3000. The standard curve, which ranged from 2 to 1500 ng/mL, was fitted to a 1/x weighted quadratic regression model. The validation results demonstrated that the method was sensitive, rapid, selective and robust and provided satisfactory precision and accuracy. The method has been successfully used for the analysis of clinical samples in pharmacokinetic studies of chiglitazar.

Objective. To examine the hypothesis that the differences reported in incidence of osteoarthrosis in Chinese and Caucasians could be associated with differences in habitual gait. Design. The effects of race and age on walking speed and heelstrike transient were examined. Background. The relatively low incidence of gonarthrosis in Chinese populations compared to Caucasians remains unexplained. Repetitive impulsive loading exhibited at heel strike in the walking process has been linked to the development of gonarthrosis, while the gait characteristics of people at different risk levels for gonarthrosis have not been compared quantitatively. Methods. The gait of 117 healthy women, 76 Chinese and 41 Caucasians, was studied with an optometric system and two force plates in an 8-m walkway. Natural walking speed, stride length, cadence and maximum loading rate at heelstrike were collected. Results. The Caucasian women over age 45 walked significantly faster with significantly higher maximal loading rate than age-matched Chinese women (P

Rock concerts are popular mass gatherings in Taiwan. Millions of fans participate in rock concerts in Taiwan each year. However, there were no reports on the characteristics of the patients seen in rock concerts in Taiwan.Medical care for a summer rock concert festival held in an outdoor stadium in Taipei was coordinated by emergency physicians of a medical center. About 50,000 attendees participated in the two-night concert. Three stations were set up to provide advanced medical care. A standardized form was used to collect information about patients.A total of 28 cases visited the medical stations, fourteen cases each day. They were aged from 13 to 40 years, with an average of 20.8 +/- 6.4. Twenty-one cases were female and seven were male. Twenty-two (79%) were spectators, five (18%) were on-duty staff, and one was a by-stander. Based on an estimation of totally 50,000 participants in the stadium for this two-night festival, the medical use rate was roughly 5.6 PPTT (patients per ten thousand attendees). The most common major problem was fainting which accounted for 13 cases (46%). Of these 13 cases, three cases (23%) lost consciousness and 12 cases (92%) were female. Sixteen cases (57%) were classified as requiring ALS (advanced life support) and 12 cases (43%) as requiring BLS (basic life support). Most cases improved and were discharged after onsite treatment. Only one case was transferred by ambulance due to persistent chest pain. However, she recovered several hours later.By this preliminary data, first reported in Taiwan, we found that the most common problem was fainting. More than half of the cases seen at the concert required advanced life support. A well-designed emergency medical service (EMS) system is mandatory to provide services for these events.

We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a second-trimester fetus with mosaic ring chromosome 13 and anencephaly. A 35-year-old, gravida 3, para 2 woman was referred for genetic counselling at 23 weeks' gestation because of an elevated maternal serum alpha-fetoprotein level of 2.386 multiples of the median. Prenatal ultrasonography showed intrauterine growth retardation and anencephaly. Amniocentesis revealed a karyotype of de novo mos 46,xx,r(13)(p11q32)/45,xx,-r(13) [corrected] (77%/23%). Molecular genetic analysis by quantitative fluorescent polymerase chain reaction (PCR) with small tandem repeat markers specific for chromosome 13 rapidly confirmed the maternal origin of the aberrant chromosome and determined the breakpoint at 13q32 between D13S225 (present) and D13S147 (absent). Our present finding indicates that anencephaly can be due to mosaic r(13) with a terminal deletion of 13q32-13q34 and an additional secondary rearrangement of loss of r(13). We propose that cytogenetic analysis is beneficial and warranted in pregnancies with fetal neural tube defects.

Prenatal diagnosis of simultaneous occurrence of double trisomy involving chromosomes 18 and X is extremely rare. We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a fetus with both trisomy 18 and trisomy X. A 26-year-old, para 1 woman was referred for genetic counselling at 36 weeks' gestation with the sonographic findings of intrauterine growth retardation (IUGR), polyhydramnios, ventricular septal defect, and an enlarged cisterna magna. Both cordocentesis and amniocentesis revealed a consistent karyotype of 48,XXX,+18. Quantitative fluorescent polymerase chain reaction using polymorphic small tandem repeat markers specific for chromosomes 18 and X rapidly determined that both aneuploidies arose as a result of non-disjunction in maternal meiosis II. Our case shows that two non-disjunction events can occur not only in the same parent, but also in the same cell division. Our case also shows that double trisomy, 48,XXX,+18, can demonstrate an enlarged cisterna magna, IUGR and polyhydramnios in prenatal ultrasound.

We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a 49,XXXXY fetus. A 31-year-old, primigravida woman was referred for genetic counselling at 17 weeks' gestation with the sonographic findings of intrauterine growth retardation, generalized oedema, a large septated cystic hygroma colli measuring 5x4 cm, and abnormal posturing of the lower extremities. Quantitative fluorescent polymerase chain reaction (QF-PCR) with small tandem repeat (STR) markers specific for chromosome X and a pentanucleotide marker X22 for the Xq/Yq pseudoautosomal region PAR2 rapidly detected the X-chromosome polysomy from amniotic fluid cells. This abnormality appeared to arise from successive non-disjunction during maternal meiosis I and meiosis II. Cytogenetic analysis revealed a karyotype of 49,XXXXY. Our case shows that a 49,XXXXY fetus in the second trimester may demonstrate hydrops fetalis and a large septated cystic hygroma colli by prenatal ultrasound. Our case also shows that QF-PCR assays with sex chromosome specific STR markers provide rapid prenatal diagnosis of numerical sex chromosome aneuploidy as well as its genetic cause in fetal cystic hygroma.

We report the prenatal diagnosis of partial trisomy 3p(3p23--pter) and monosomy 7q(7q36--qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia. A 26-year-old primigravida woman was referred for genetic counselling at 23 gestational weeks due to sonographic findings of intra-uterine growth retardation and cranio-facial abnormalities. Level II ultrasonograms further demonstrated alobar holoprosencephaly, a proboscis above the eye and a single median orbit consistent with cyclopia. Genetic analysis and fluorescence in situ hybridization on cells obtained from amniocentesis showed distal 3p trisomy (3p23--pter) and 7q36 deletion, 46,XX,der(7)t(3;7)(p23;q36), resulting from a paternal t(3;7) reciprocal translocation. The pregnancy was terminated. Autopsy further confirmed the presence of arrhinencephaly, agenesis of the corpus callosum and a single ventricle of the brain. The phenotype of this antenatally diagnosed case is compared with those observed in 10 previously reported cases with simultaneous occurrence of partial trisomy 3p and terminal deletion 7q. All cases are associated with severe forms of holoprosencephaly and facial dysmorphism. This delineates an autosomal imbalance syndrome or a dosage effect involving duplication of distal 3p/deficiency of terminal 7q and dysmorphogenesis of the forebrain and mid-face.

A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter-q12.3) and partial trisomy 16 (p13.2-pter), 47,XX,+der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal reciprocal translocation 13;16. Prenatal ultrasound of a 29-year-old, gravida 2, para 0 woman at 22 gestational weeks showed fetal ascites, severe oligohydramnios and non-visualization of fetal urinary bladder and kidneys. The pregnancy was terminated. At delivery, the proband displayed dysmorphic features of hypertelorism, a prominent glabella, epicanthic fold, a stubby nose with a depressed nasal bridge, anteverted nares, thin lips, micrognathia, low-set ears, a short neck and a distended abdomen. Necropsy confirmed bilateral renal agenesis and ascites. A cytogenetic study performed on fibroblasts obtained from the proband's skin revealed an extra supernumerary chromosome. The mother was later found to have a reciprocal translocation. Fluorescence in situ hybridization for a submicroscopic deletion in chromosome 22q11 in the proband was negative. The parents had no urological anomalies. Our observation further extends the clinical spectrum associated with proximal trisomy 13q and distal trisomy 16p. We suggest prenatal cytogenetic analysis in fetuses with urological anomalies, including renal agenesis, to uncover underlying genetic disorders.

The pharmacokinetics and bioavailability of glipizide were studied in 8 healthy male volunteers after a single oral dose of 5 mg in capsule or in tablet. The plasma levels of glipizide were assayed by high performance liquid chromatography. The concentration--time curves of both preparations were fitted to a one compartment model. The pharmacokinetic parameters of glipizide in capsule and in tablet were shown in tables 2 and 3. The relative bioavailability of the capsule was 109.9% compared with the tablet.

During the 13-year period from 1978 to 1991, 202 patients with differentiated thyroid carcinoma were treated with radioactive iodine-131 (I-131) post-operatively. The therapeutic response and survival rates were studied. Of these patients, 172 (85%) patients were shown to be totally disease-free; others showed a partial response or persistence of disease. A total of 134 patients (66%) achieved total thyroid ablation with only one therapeutic dose of I-131, ranging from 100-200 mCi. Patients over the age of 40 years at the time of diagnosis had a lower survival rate than those under 40 years old (98.6% vs 68.9%; p0.001). However, patients over the age of 50 years and follicular patients had a lower recurrence rate than patients under the age of 50 years and those with papillary carcinoma. Eight of the 32 patients (25%) with lung metastases were detected by a therapeutic I-131 whole body scan (WBS), in which the diagnostic I-131 WBS was negative. In six of the 16 patients (37.5%) with bony metastases, the I-131 WBS showed more obvious positive results than the Tc-99m methylene diphosphonate (MDP) bone scanning. Most of the remaining patients exhibited the same findings for the two methods. Therefore, I-131 WBS is superior to Tc-99m MDP bone scanning in the detection of bony metastases from thyroid carcinoma. The mortality rate of patients with bony metastases was four times that of patients with lung metastases (40% vs 10%). Patients with follicular carcinoma had higher rates of distant metastases than those with papillary carcinoma (13% vs 4%).(ABSTRACT TRUNCATED AT 250 WORDS)

A high-performance liquid chromatographic analysis of phenylpropanolamine (PPA) in human plasma is presented. Using direct UV detection the method is sufficiently sensitive to 25 ng/ml for PPA. Single-dose pharmacokinetics of PPA in 10 healthy volunteers taking controlled release suspension (C) or tablet (T), each containing 150 mg PPA was compared. The study described here has shown that the (C) AUC(0-infinity)/(T) AUC(0-infinity) = 1.02 (P greater than 0.4). The controlled-release product of PPA is equivalent to PPA tablet.

In study A, consisting of four groups of six subjects each, we measured the differences in pH, viscosity, and osmolality of in vivo and in vitro samples of steamed rice, congee, and 16.6 and 5% glucose solutions in 300-ml volumes. The physical properties of starch meals in vivo are different from in vitro samples, which may account for discrepancies among previous studies of glucose tolerance and gastric emptying. In study B, test meals of 300 ml of steamed rice, congee, 16.6% glucose, 5% glucose or a combined congee-metoclopramide meal (in which 10 mg metoclopramide i.v. was given 15 min before the congee was eaten) were given to seven subjects. Blood samples were taken, and the serum glucose and insulin responses were determined. The meals were labeled with 99mTc pentetic acid microcapsules, and the gastric emptying rates were calculated. Metoclopramide increased the gastric emptying of congee to that approaching steamed rice. The incremental glucose response to steamed rice was greater than that to congee, but the incremental insulin response was greatest with congee plus metoclopramide. The physical form of the food influences the blood glucose and insulin response and the rate of gastric emptying. The gastric emptying rate may be the major mechanism for the increased insulin response.

We encountered two cases of congenital complete atrioventricular block out of 23,400 deliveries during the past 3 years. Two-dimensional and M-mode fetal echocardiography revealed complete atrioventricular block without structural abnormality. Anti-Ro (SS-A) antibodies were present in both the mother and infant of these two cases. The ventricular rates of these two infants were 31 and 80 beats/min respectively. Pacemaker implantation was performed for the first infant.