Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21

Tricho-dento-osseous syndrome (TDO), MIM# 190320, is transmitted as a highly penetrant autosomal dominant trait that is characterized by variable clinical expression. The principal clinical features include kinky/curly hair in infancy, enamel hypoplasia, taurodontism, as well as increased thickness and density of cranial bones. Possible genetic linkage has been reported for TDO with the ABO blood group locus, but the gene defect remains unknown. We have identified four multiplex families (n = 63, 39 affected, 24 unaffected) from North Carolina segregating TDO. We previously have excluded a major locus for TDO in the ABO region for these families. Utilizing a genome-wide search strategy, we obtained conclusive evidence for linkage of the TDO syndrome locus to markers on chromosome 17q21 (D17S791, Z max = 10.54, Theta = 0.00) with no indication of genetic heterogeneity. Multipoint analysis suggests the TDO locus is located in a 7 cM chromosomal segment flanked by D17S932 and D17S941. This finding represents the first step towards isolation and cloning of the TDO gene. Identification of this gene has important implications for understanding normal and abnormal craniofacial development of hair, teeth and bone.      

Visual impairment in severe and profound sensorineural deafness

The frequency of reversible and irreversible visual impairment was determined in children with severe and profound sensorineural deafness, as subnormal vision can adversely affect their educational and social development. Eighty three of 87 such children attending an audiology service were examined to assess the incidence and severity of visual impairment. Each child underwent a detailed ophthalmic assessment. The criteria for visual impairment were visual acuity < 6/9 Snellen or equivalent and/or abnormal binocular vision. Forty five had a normal ophthalmic examination (54.2%). Twenty nine had visual impairment (34.9%) and nine had ophthalmological abnormalities that did not interfere with vision (10.9%). A higher proportion of children with risk factors for visual pathology demonstrated visual impairment than those in whom there were no risk factors. None the less, 44% of visual impairment was among patients without risk factors. The results underline the need to examine all children with severe and profound sensorineural deafness soon after diagnosis and indicate that children with multiple handicaps have a greater likelihood of visual impairment (11 of 14 cases).     

关于人眼视力发展的非线性成长率理论

目的使用非线性成长率理论分析人眼视力发展规律。方法使用高斯光学及成像方程推导出两个参数：屈光状态改变率（M）及眼轴成长率（N），用以预测MOS（初始近视）、年龄（A^＊）及其后视力的发展情况。结果当有效焦距F=（21-22）、密码M=（2．67—2．9）（D／mm）时，此计算值符合实验平均值（2．7）。当年龄A^＊=（3，6）岁的屈光度变化已知时，我们计算其MOS预测年龄为A^＊=（7．3，21．8）岁（在不同条件下）。此值反比于M值在A=6及A=3的比值或N=N—N^＊，即非正视态及正视态的眼轴成长率之差。本理论也可用来预测在年龄A=25时的近视度，分别为D=-14及-0．49的上述两例情况，同时也能分析Lain等人的测量值（由出生到青年期的视力发展情况）。结论本理论可预测MOS、其后发展情况及其符合实验值（M）。使用成长率差值（dN）比使用L/rl比值能更准确地预测MOS。     

Intraluminal brachytherapy in the treatment of bile duct carcinomas

Patients with carcinoma of the biliary tract have a poor prognosis because the disease is often unresectable at diagnosis. Intraluminal brachytherapy has been reported as an effective treatment for localized cholangiocarcinoma of the biliary tract. The purpose of our study was to analyse the survival of patients treated with brachytherapy and make some recommendations regarding its use. Fifteen patients underwent brachytherapy via a trans-hepatic approach at the Royal Prince Alfred Hospital from 1983 to 1993. Eleven patients had low-dose rate brachytherapy and four patients had high-dose rate treatment. There were nine males and six females. The median age was 64 years. Other treatment included bypass procedures in two patients, endoscopic stents in 14 patients and external beam irradiation in one patient. The median survival was 12.5 months and 47% of the patients survived 1 year. The only complication reported was cholangitis which was seen in one patient. There did not seem to be any difference in survival or complications between low- and high-dose rate brachytherapy. We conclude that the addition of intraluminal brachytherapy after biliary drainage prolongs survival and is a safe and effective treatment, but patients still have a high rate of local failure, and further studies will be needed to address this problem.     

Uterine leiomyomas in the infertile patient: preoperative localization with MR imaging versus US and hysterosalpingography

Eleven women with a history of infertility and uterine leiomyomas underwent magnetic resonance (MR) imaging of the pelvis prior to myomectomy. Nine also underwent preoperative pelvic ultrasonography (US), and ten underwent hysterosalpingography. All studies were interpreted prospectively by independent observers. With each imaging modality, the location (one of 11 anatomic segments), size, and appearance of detected uterine leiomyomas were determined and compared with surgical and histologic findings. Among the nine patients who underwent both MR and US, the sensitivity (85%) and accuracy (94%) of MR imaging for abnormal segments was significantly better than that of US (sensitivity = 69%, P = .015; accuracy = 87%, P = .043). For the ten patients who underwent both MR and hysterosalpingography, the sensitivity (91%) and accuracy (96%) of MR imaging was better than that of hysterosalpingography (sensitivity = 18%, P = .0005; accuracy = 72%, P = .0005). The specificities of the three modalities did not significantly differ (100%, 97%, and 98% for MR, US, and hysterosalpingography, respectively). These data suggest that MR imaging is superior to US or hysterosalpingography for preoperatively locating uterine leiomyomas.     

Quality assessment and assurance in diagnostic imaging. Theoretical and practical considerations and a quality audit of the excretory urogram

Concepts necessary to an understanding of the basics of quality assurance audits are presented. Included are specific examples that bridged theory and practice by applying the protocol to a real-life diagnostic imaging situation. This method meets the present requirements of the Joint Commission of the Accrediation of Hospitals.     

Spectral analysis of cerebellar activity after acute brain injury in anesthetized rats

We investigated cerebellar electrocortical activity before and after unilateral brain injury in anesthetized rats. Spectral analysis of cerebellar activity was obtained by Fast Fourier Transformation. There was a dominance of delta frequency range, while the wide gamma range presented no more than 5% of the total mean power spectra of cerebellar activity before brain injury. A few minutes after brain injury and within the first 90 minutes, there was a decrease of total mean power spectra and a relative decrease of delta range power to about 30%, some increase of beta range, and an increase of gamma range to 20-25%. Relative increase of gamma range in the cerebellar mean power spectra was still present 120 min after the brain injury, while other changes started to diminish. We suggest that spectral changes within slow and fast (gamma) frequency ranges of cerebellar activity may be indicators of the brain state after acute injury.     

Test-retest reliability of temporal and spatial gait characteristics measured with an instrumented walkway system (GAITRite<Superscript>®</Superscript>)

Background

The purpose of this study was to determine the test-retest reliability of temporal and spatial gait measurements over a one-week period as measured using an instrumented walkway system (GAITRite^®).

Methods

Subjects were tested on two occasions one week apart. Measurements were made at preferred and fast walking speeds using the GAITRite^® system. Measurements tested included walking speed, step length, stride length, base of support, step time, stride time, swing time, stance time, single and double support times, and toe in-toe out angle.

Results

Twenty-one healthy subjects participated in this study. The group consisted of 12 men and 9 women, with an average age of 34 years (range: 19 – 59 years). At preferred walking speed, all gait measurements had ICC's of 0.92 and higher, except base of support which had an ICC of 0.80. At fast walking speed all gait measurements had ICC's above 0.89 except base of support (ICC = 0.79),

Conclusions

Spatial-temporal gait measurements demonstrate good to excellent test-retest reliability over a one-week time span.