A de novo mutation (Gln2Stop) at the 5' end of the SRY gene leads to sex reversal with partial ovarian function.
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Biomedical subjects
Publications and source records attributed to C Yu.
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PURPOSE: Naso-temporal asymmetries of visual acuity and contrast sensitivity have been reported in strabismic amblyopia and attributed to asymmetries of interocular suppression. In this study, we investigated the naso-temporal asymmetry of cortical spatial interactions in two strabismic amblyopes (one esotrope and one exotrope). METHODS: Length and width Westheimer functions were measured on both amblyopes at the 10 deg retinal eccentricity of both nasal and temporal visual fields. RESULTS: Spatial interactions in the two amblyopic eyes were more degraded in the temporal visual fields than in the nasal visual fields. A comparison with results from the preferred eyes suggested that this asymmetry was caused mainly by a loss of spatial interactions in the temporal visual fields of amblyopic eyes, with those in the nasal visual fields being normal. CONCLUSION: Our results suggest that intracortical connections underlying cortical spatial interactions might have been degraded by amblyopia. This degradation exists not only in the areas of the strabismic visual cortex responding to foveal stimuli but also in those responding to stimuli presented in the temporal visual fields.
Many paraplegics can stand up if their leg extensor muscles are stimulated without feedback to the stimulator-controller. Their neurologically-intact upper bodies control the motion by exerting forces through the arms. To develop stimulator-controllers, we wish to understand the strategy they use. In two subjects, we measured the handle forces and the posture during standing up. Plotted so as to relate the handle forces to the leg joints, the results show that the upper body helps extend the knees and then the hips: a strategy we call quick knee-locking. This may keep the upper body forces within the limits of its strength.
This article analyzes the extent to which different policy instruments explain toxic reductions among the states. Data from the Toxics Release Inventory (TRI) and other sources are used to assess the effect of various policy instruments, while holding economic factors constant. State TRI information programs, enforcement action, and direct regulation all matter in reducing toxic releases. Interestingly, the informational tool seems to matter more than both authoritative tools. The findings also support the idea that the interaction of policy instruments as well as the match between policy tools and policy context may account for a portion of the results.
OBJECTIVE: Given the urgent need to develop effective programs that improve the ability for adolescents to achieve metabolic control equivalent to programs studied in the Diabetes. Control and Complications Trial, we have undertaken a clinical trial to determine if a behavioral intervention (coping skills training [CST]) combined with intensive diabetes management can improve metabolic control and quality of life in adolescents implementing intensive therapy regimens. RESEARCH DESIGN AND METHODS: A total of 65 youths between the ages of 13 and 20 years, who elected to initiate intensive insulin therapy, were randomly assigned to one of two groups: the intensive management with CST group and the intensive management without CST group. CST consists of a series of small group efforts designed to teach adolescents the coping skills of social problem-solving, social skills training, cognitive behavior modification, and conflict resolution. Data were collected at pre-intervention and at 3 months following the use of the Self-Efficacy for Diabetes scale, Children's Depression Inventory, Issues in Coping with IDDM scale, and the Diabetes Quality of Life: Youth scale. Clinical data (HbA1c, adverse effects) were collected monthly. RESULTS: The experimental and control groups were comparable on all measures at baseline. Results show that adolescents who received CST had lower HbA1c and better diabetes self-efficacy and were less upset about coping with diabetes than adolescents receiving intensive management alone. In addition, adolescents who received the CST found it easier to cope with diabetes and experienced less of a negative impact of diabetes on quality of life than those who did not receive CST. CONCLUSIONS: CST is useful in improving not only an adolescent's metabolic control, but also their quality of life. As more pediatric providers aim for improved control, in adolescents with diabetes, the addition of this behavioral intervention may be helpful in achieving metabolic and life goals.
OBJECTIVE: Quality of life is an important criterion for assessing outcomes of treatment in chronic illness related to psychosocial well-being. The purpose of this study was to evaluate the factors that influence quality of life in adolescents with IDDM. RESEARCH DESIGN AND METHODS: Self-reports were obtained from 52 adolescents (age 13-20 years, mean 16.1 +/- 1.9 [mean +/- SD], diabetes duration 8.2 +/- 3.4 years, 49% female) using the following scales: Diabetes Quality of Life for Youths, Children's Depression Inventory, Issues in Coping with Diabetes, Diabetes Family Behavior Scale, Family Adaptability and Cohesion, Self-Efficacy for Diabetes, and the Adolescent Coping Orientation. Metabolic control was measured by HbA1c. RESULTS: Teenagers whose diabetes had the greater impact (R2 = 0.48) and were less satisfied (R2 = 0.45) felt that management was more difficult (r = 0.56) and that diabetes was more upsetting (r = 0.63). They also used fewer rebellion strategies for coping (r = -0.44), had lower diabetes self-efficacy (r = -0.36), and had more depressive symptoms (r = 0.61). Higher impact was also associated with higher family warmth and caring (r = -0.54) and lower family adaptability (r = -0.42). Teenagers who were more worried (R2 = 0.37) about their diabetes felt that management was more difficult (r = 0.40) and that diabetes was more upsetting (r = 0.58), and they used less rebellion (r = -0.49) and more ventilation (r = 0.42) to cope, had lower diabetes (r = -0.40) and medical (r = -0.30) self-efficacy, were more depressed (r = 0.55), and their families were less warm and caring (r = -0.33). HbA1c levels were not associated with quality of life or any other psychosocial factors except in teenagers who perceived their families as providing more guidance and control. These teenagers had lower HbA1c values than those whose families were less involved. CONCLUSIONS: Even teenagers who are successfully achieving HbA1c goals of therapy may perceive diabetes as having a negative impact on their lives, be depressed, and find diabetes difficult to manage. Diabetes treatment teams need to pay equal attention to the psychosocial needs to the quiet, nonrebellious teen with well-controlled diabetes from a supportive family as they do to the rebellious adolescent with poorly controlled diabetes.
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48 cases of endometriosis were treated with the Neiyi (ectopic endometrium) No. 2 Pills [symbol: see text] 2 [symbol: see text]) composed of fresh Dahuang (Radix et Rhizoma Rhei), Biejia (Carapax Trionycis) and Taoren Shuang (powdered Semen Persicae). After 3 months of treatment, high effective rates were obtained in menorrhalgia, dyspareunia, proctalgia, hysteromyoma, ovary cyst, and tubercles in the pelvic cavity, with a pregnant rate of as high as 26.7% in sterility. Meanwhile, the levels of plasma PGF2 alpha and PGE2 markedly dropped, while that of 6-keto-PGF1 alpha, beta-EP, and HYP significantly elevated.
OBJECTIVE: To explore the characteristics of genital diseases in girlhood in order to improve its prevention and treatment. METHODS: 106 girls with genital diseases (age < or = 12 years) admitted to Obstetrics and Gynecology Hospital of Shanghai Medical University from Jan. 1977 to Dec. 1996 were reviewed retrospectively. They were divided into two group. 1st group 36 cases (1977-1986), 2nd group 70 cases (1987-1996). The clinical data of these two groups were compared and also compared with the whole patients admitted to the Gynecological Department of this hospital at the same period. RESULTS: The patients' number of the second group significantly increased by 0.1 percentage as compared with the 1st group (P < 0.001). The characteristics of genital diseases in the second group is different from that in the 1st group: the incidence of genital tumor ranked the highest, the age of genital malformation patients became younger, and the inflammatory disease tended to be more complicated and serious. CONCLUSIONS: These data indicated that the pediatrician and gynecologist should pay more attention to the prophylaxis and treatment of genital diseases in girlhood.
OBJECTIVE: To investigate mutation of APC gene in sporadic colorectal tumors. METHODS: Thirty-six samples of colorectal cancer and twenty-eight samples of colorectal polyps resected by operation and endoscopy were collected. As control, normal mucosal tissues in patients with cancer were taken from site 10 cm away from cancer. Three familial adenomatous polyposis (FAP) patients were also included in this study. The mutation cluster region (MCR) within exon 15 of APC gene was amplified by PCR and the PCR products were subject to SSCP analysis. Three mutant DNA fragments screned by PCR-SSCP were sequenced. RESULTS: No mutation in MCR of APC gene was found in normal mucosa, inflammatory polyp and hyperplastic polyp. Mutation in MCR of APC gene was found in 7 of 28 cases with sporadic colorectal polyps and in 11 of 36 cases with colorectal carcinomas. The difference in mutation frequency between adenomatous group (including FAP, 31.0%) and carcinomatous group(including FAP, 35.9%) was not statistically significant (P > 0.05). Mutation of APC gene was detected in two of three FAP patients. The same point mutation of codon 1,425 was found in both adenoma tissue and its hepatic metastasis in one FAP patient by DNA sequencing. CONCLUSION: Mutation of APC gene occurs not only in FAP, but also in sporadic colorectal tumors. It takes part in the development of most, if not all, sporadic colorectal carcinomas.
OBJECTIVE: To supply the far-lateral transcondylar approach with some basic microsurgical anatomy and to protect vital structure. METHOD: We examined 10 cadveric adult heads and 10 dry skulls. RESULTS: Mastoid process, jugular fossa, and occipital condyle were important signs. Inferior occipital triangle was formed by muscle rectus capitis posterior major, muscle oblique capitis superior, and muscle oblique capitus inferior, the important mark for distinguishing vertebral artery. Abdundant venous plexus around vertebral artery was the important bleeding source during operation. CONCLUSION: The aforementioned anatomic landmarks assist in localization, protection of vital structures.
The polymorphic STR locus D6S366 was analyzed using PCR and PAG electrophoresis and 7 alleles were detected from 200 unrelated individuals in Wuhan. The allete distribution of the locus was in accordance with Hardy-Weinberg equilibrium. The H, Dp, P, E, and PIC of the D6S366 were calculated in this paper.
OBJECTIVE: To study the treatment of simple obesity in children and observe its effect. METHODS: Two hundred and two patients were treated with self-produced photo-acupuncture apparatus (101 cases) or ear-pressing (101 cases), and their effects were observed and compared. RESULTS: Effects of both methods were satisfactory. The photo-acupuncture showed a better result than that of the ear-pressing. After treatment, the obesity indexes lowered significantly and levels of blood lipids, glucose, cortisol and triiodothyronine were all improved markedly. CONCLUSIONS: Photo-acupuncture is a safe, painless, nontraumatic and effective method for treatment of simple obesity, and it is easy to be accepted by children.
OBJECTIVE: To review the experience of correction of congenital cardiac defects through a right minithoracotomy. METHOD: 319 patients underwent correction of congenital heart malformations through right lateral thoracotomy under cardiopulmonary bypass. The average age was 3.44 +/- 1.59 years (range, 5 months-8 years). The average body weight was 13.66 - 3.98 kg (range, 6 - 26 kg). Cardiac defects repaired included atrial septal defect in 87 patients (1 patient associated with left superior vena cava (LSVC), 6 pulmonary stenosis, 5 partial anomalous pulmonary venous connection), ventricular septal defect in 200 (7 patients with coexisting patent ductus arteriosus, 7 mitral insufficiency, 3 LSVC, 11 right ventricular outflow tract obstruction), Fallot's Tetralogy in 19 (3 patients associated with LSVC, 1 single coronary malformation), partial endocardial cushion defect in 2 and other defects in 11. The mean cardiopulmonary bypass time was 56.07 +/- 24.90 min (range, 20 - 176 min) and the mean aortic crossclamping time was 32.97 +/- 20.38 min (range, 6 - 140 min). The average mechanical ventilation time after operation was 18.75 +/- 24.57 hr (range, 2 - 140.72 hr), and the mean postoperative hospital stay was 7.08 +/- 0.69 days (range, 7 - 17 days). RESULT: No operative mortality and severe postoperative complications were noted. CONCLUSION: The right lateral thoracotomy is a safe and effective alternative to a median sternotomy for correction of cardiac defects. Advantages of this approach include less injury, maintaining the continuity and the integrity of the bony thorax, and preventing postoperative pigeon breast. The cosmetic result is superior to that of median sternotomy or bilateral submammary incision.
The growth of Methylomonas Z201 cells and production of epoxypropane in mono- and biphasic fermentation systems were studied. In monophasic fermentation systems, the inhibitions of propene and epoxypropane on the growth of Methylomonas Z201 cells were observed and the concentration of epoxypropane reached 1.3 mmol/L. In biphasic fermentation systems, hexadecane acted as the "reservoir" of growth substrate (methane) and reactants (propene, molecular oxygen), the decrease of propene and epoxypropane in aqueous phase reduced the inhibition effect of propene and epoxypropane on the growth of cells, the concentrations of epoxypropane in both water phase and hexadecane phase reached 1.7 mmol/L and 2.6 mmol/L. In both monophasic and biphasic fermentation systems, the operational stability of cells was enhanced compared to that of resting cells.
The purpose of this pilot study was to examine the Braden Scale for Predicting Pressure Sore Risk and determine which variables predict pressure ulcer risk in Black and Latino/Hispanic elders. A prospective clinical design was used to conduct the study. Among 36 patients, 60 years of age or older, 14 (38%) developed a pressure ulcer. A Fisher Exact test (2-tail) revealed that, at a cut-off score of 16, the Braden Scale significantly underpredicted those patients at risk for pressure ulcers (5.13 E-03). Sensitivity was 35 percent and specificity was 100 percent for a Braden Scale score of < or = 16.
We describe several new discrete distributions motivated by the study of longevity in twins. All individuals both living and dead at a given age are randomly paired. The univariate distribution models the number of these pairs where both individuals are alive. If there is a positive association to longevity in twins, then we would expect to see an excessive number of twin pairs both alive at older ages relative to the number of living individuals. We obtain Poisson and normal approximations to the exact distribution. Multivariate distributions are developed to allow for simultaneous and conditional inference at different ages. Odds-ratio parameter models provide a measure of the association of longevity within twin pairs. These models indicate an excessive number of identical twin pairs both alive after age 60 in a cohort of twins born between 1870 and 1880 in Denmark. Monozygotic twins are contrasted with dizygotic twins to separate the genetic and environmental contributions to the similarity in longevity among twins.
Cardiotoxin analogues IV (CTX IV) and II (CTX II) isolated from the venom of Taiwan Cobra (Naja naja atra) differ in their amino acid sequence by a single amino acid at the N-terminal end. Leucine at the N-terminal end in CTX II is replaced by arginine in CTX IV. CTX IV is an unique snake venom cardiotoxin as it is the only cardiotoxin isoform known so far which possesses a positively charged residue at the N-terminal amino acid. All other cardiotoxins have a hydrophobic amino acid (leucine or isoleucine) at their N-terminal end. The aim of the present study is to understand the effect(s) of the presence of a cationic residue on the structure and functional properties of cardiotoxin(s). Comparison of the hemolytic activities of CTX IV and CTX II shows that lytic activity of the former is at least twice as that shown by the latter. Comparison of the solution structures of CTX IV and CTX II using two-dimensional NMR spectroscopy and dynamical simulated annealing technique reveals that the backbone fold of both the toxin isoforms is almost similar. The secondary structural elements in these two cardiotoxin isoforms consist of long, triple-stranded, as well as short, double-stranded, antiparallel beta-sheets. Thermal denaturation experiments showed that the structure of CTX IV is more stable than that of CTX II. Critical analysis of the three-dimensional structures of CTX IV and CTX II reveals the presence of a "cationic" cluster comprising of positively charged residues on the concave side of the CTX IV molecule. Similar clusters consisting of positively charged residues are not found in CTX II. The differential erythrocyte lytic activities of these two cardiotoxins are attributed to the difference(s) in the distribution of the positively charged residues in their three-dimensional structures.