Quantifying changes in ultrasound tongue-shape pre- and post-intervention in speakers with submucous cleft palate: an illustrative case study.

Ultrasound Tongue Imaging is increasingly used during assessment and treatment of speech sound disorders. Recent literature has shown that ultrasound is also useful for the quantitative analysis of a wide range of speech errors. So far, the compensatory articulations of speakers with cleft palate have only been analysed qualitatively. This study provides a pilot quantitative ultrasound analysis, drawing on longitudinal intervention data from a child with submucous cleft palate. Two key ultrasound metrics were used: 1. articulatory t-tests were used to compare tongue-shapes for perceptually collapsed phonemes on a radial measurement grid and 2. the Mean Radial Difference was reported to quantify the extent to which the two tongue shapes differ, overall. This articulatory analysis supplemented impressionistic phonetic transcriptions and identified covert contrasts. Articulatory errors identified in this study using ultrasound were in line with errors identified in the speech of children with cleft palate in previous literature. While compensatory error patterns commonly found in speakers with cleft palate have been argued to facilitate functional phonological development, the nature of our findings suggest that the compensatory articulations uncovered are articulatory in nature.

Ethnicity can predict GLRA1 genotypes in hyperekplexia.

OBJECTIVES: Hyperekplexia is predominantly caused by mutations in the α-1 subunit of the inhibitory glycine receptor (GLRA1). Three quarters of cases show autosomal-recessive inheritance. METHODS: We carefully ascertained reports of ethnicity from our hyperekplexia research cohort. These were compared with all published cases of hyperekplexia with an identified genetic cause. Ethnicities were subgrouped as Caucasian, Asian, Arabic, Turkish, Jewish or Afro-American. RESULTS: We report the ethnicity of 90 cases: 56 cases from our service augmented by 34 cases from the literature. Homozygous deletions of exons 1 to 7 are predominantly seen in people with Turkish backgrounds (n=16/17, p<0.001). In contrast, the dominant point mutation R271 is seen in people of Asian, Caucasian and African-American heritage (n=19) but not in people with Arab or Turkish ethnicities (p<0.001). CONCLUSIONS: Self-declared ethnicity can predict gene-screening outcomes. Cultural practices influence the inheritance patterns and a Caucasian founder is postulated for R271 mutations.

Mars water-ice clouds and precipitation.

The light detection and ranging instrument on the Phoenix mission observed water-ice clouds in the atmosphere of Mars that were similar to cirrus clouds on Earth. Fall streaks in the cloud structure traced the precipitation of ice crystals toward the ground. Measurements of atmospheric dust indicated that the planetary boundary layer (PBL) on Mars was well mixed, up to heights of around 4 kilometers, by the summer daytime turbulence and convection. The water-ice clouds were detected at the top of the PBL and near the ground each night in late summer after the air temperature started decreasing. The interpretation is that water vapor mixed upward by daytime turbulence and convection forms ice crystal clouds at night that precipitate back toward the surface.

Dialysis adequacy and self-reported health status in a group of CAPD patients.

The purpose of the study was to describe in a cross sectional manner the self-reported level of health of a group of continuous ambulatory peritoneal dialysis (CAPD) patients and to establish whether any clinical or laboratory variables correlated with this measure of health. While undergoing routine baseline and 6 monthly measurements of weekly total urea over volume distribution (Kt/V) and weekly creatinine clearance (Ccr)/1.73 m2 body surface area (BSA), 57 patients voluntarily completed the Short Form 36 health status questionnaire (SF36) (a self-report, multidimensional, generic measure of health status). Weekly Kt/V was correlated with weekly Ccr (r = 0-81, p < 0.001). Thirty-one of the 57 patients were recorded as having Ccr < 65 L/week. A comparison with Australian interim normative data demonstrated that this group of CAPD patients reported lower scores on the eight physical and mental health components that are measured by the SF36 than did the general population. Patients who were most impaired in their physical functioning were more likely to be older, overweight, and to have a lower normalized protein catabolic rate (nPCR). Patients who were adequately dialyzed (Ccr > or = 65 L/week/1.73 m2) reported greater vitality than those patients recorded as having Ccr < 65 L/week/1.73 m2.

An electropalatographic analysis of stutterers' speech.

Electropalatography (EPG) was used to investigate tongue-palate contacts from three adult stutterers during fluent and dysfluent speech and the results compared with normative data. Recordings were made of 22 read sentences, a reading passage and a conversational sample. The results showed that the lingual/palatal contacts of some phonemes during periods of stutterers' fluent speech consistently differed from that of the non-stutterers. Furthermore, stutterers produced greater intrasubject articulatory variability. Finally, during successive repetitions, the EPG patterns often became less similar to the target (or 'normal') configuration.

The thermal stability of water ice at the poles of mercury.

Recent radar observations of Mercury have revealed the presence of anomalous radar reflectivity and polarization features near its north and south poles. Thermal model calculations show that, despite Mercury's proximity to the sun, the temperatures of flat, low-reflectivity surfaces at Mercury's poles are not expected to exceed 167 kelvin. The locations of the anomalous polar radar features appear to be correlated with the locations of large, high-latitude impact craters. Maximum surface temperatures in the permanently shadowed regions of these craters are expected to be significantly colder, as low as 60 kelvin in the largest craters. These results are consistent with the presence of water ice, because at temperatures lower than 112 kelvin, water ice should be stable to evaporation over time scales of billions of years.

Hypercapnic and hypoxic ventilatory responses in parents and siblings of children with congenital central hypoventilation syndrome.

Children with congenital central hypoventilation syndrome (CCHS) have abnormal ventilatory responses to metabolic stimuli. As there is a genetically determined component of chemoreceptor sensitivity, parents and siblings of children with CCHS may also have blunted ventilatory responses to hypercapnea and hypoxia. To test this, we studied hypercapnic ventilatory responses and hypoxic ventilatory responses in six mothers, four fathers, and five siblings (6 to 49 yr of age) of seven children with CCHS and compared them with 15 age- and sex-matched control subjects (5 to 47 yr of age). Pulmonary function tests were not different between relatives of children with CCHS and control subjects. To measure hypercapnic ventilatory responses, subjects rebreathed 5% CO2/95% O2 until PACO2 reached 60 to 70 mm Hg. To measure hypoxic ventilatory responses (L/min/% SaO2), subjects rebreathed 14% O2/7% CO2/balance N2 at mixed venous PCO2 until SaO2 fell to 75%. All tests were completed in less than 4 min. Instantaneous minute ventilation, mean inspiratory flow (tidal volume/inspiratory time), and respiratory timing (inspiratory timing/total respiratory cycle timing) were calculated on a breath-by-breath basis. Hypercapnic ventilatory responses were 1.97 +/- 0.32 L/min/mm Hg PACO2 in children with CCHS relatives and 2.23 +/- 0.23 L/min/mm Hg PACO2 in control subjects. Hypoxic ventilatory responses were -1.99 +/- 0.37 L/min/% SaO2 in the relatives and -1.54 +/- 0.25 L/min/% SaO2 in the control subjects.(ABSTRACT TRUNCATED AT 250 WORDS)

Prolonged survival after immunotherapy (irradiated cancer autografts) or mammary cancers, assessed by a measure of therapeutic deficiency.

Sixteen women, twelve with stage 2 and four with stage 3 mammary cancers, were given autografts of irradiated cancer cells immediately after simple mastectomy and before postoperative radiotherapy, as a pilot trial with entry limited for ethical and operational reasons. Entry was based upon the presence of the poor prognostic features of tumor diameter exceeding 4 cm, fixation to skin or fascia or presence of axillary lymph nodal metastases. Actuarial survival curves for a period of six years show significant (p less than 0.01) prolongation of survival of the small autografted group (63% at six years) compared to that (30% at six years) of 139 ungrafted stage 2 mammary cancer patients treated by mastectomy and postoperative radiotherapy. The concept of deficiency of a treatment based upon person-years lived is introduced and used to analyze the data. The observations and analyses support the theoretical concept that irradiated autografts of cancers may sensitise residual cancer to subsequent conventional radiotherapy and in the process can activate systemic immunological restraints.

Comparison of coil and Kiil dialysers.

To assess the comparative efficiency, safety, and cost of maintenance dialysis, the treatment of 13 patients with a Kiil dialyser (representing 1,477 hospital and 735 home dialyses) was compared with that of 11 patients using a coil dialyser (898 hospital and 396 home dialyses). Kiil and coil dialysers proved equally satisfactory from a medical standpoint and equally acceptable to the patients. The capital costs of home dialysis were considerably reduced without any threat to safety or efficiency. The running costs of coil dialysers approximate to those of Kiil dialysers.