A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat PHOX2B mutation.

We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non-polyalanine repeat mutation. This family demonstrates extreme phenotypic variability and autosomal dominant transmission over three generations not previously reported in the wider literature. Novel findings also inclue a history of recurrent second trimester miscarriage. Pediatr Pulmonol. 2014; 49:E140-E143. © 2014 Wiley Periodicals, Inc.

The course of D-dimer, high-sensitivity C-reactive protein and pro-B-type natriuretic peptide in patients with non-ST-elevation myocardial infarction.

BACKGROUND: Elevated levels of high-sensitivity C-reactive protein (hs-CRP), B-type natriuretic peptide (BNP), and D-dimer each are associated with higher rates of death and recurrent ischemic events in patients with acute myocardial infarction (AMI). The aim of this study was to examine the dynamic course of D-dimer, hs-CRP, and pro-BNP in patients with Non-ST-Elevation Myocardial Infarction (NSTEMI). METHODS: The study group consisted of 82 patients presenting with symptoms suggestive of acute coronary syndrome (ACS). 40 of the patients were diagnosed as NSTEMI and for the rest AMI was ruled out. Blood was drawn at the time of admission, 6 and 12 hours after that. The samples were tested for hs-CRP, pro-BNP and fibrin D-dimer by a quantitative, point-of-care instrument system (Stratus CS). RESULTS: D-dimer and pro-BNP did not change between admission and 6 and 12 hours after admission in patients with acute NSTEMI, whereas hs-CRP went down 12 hours after admission compared to the admission value (14.9 +/- 19.4 (mg/mL) v 10.1 +/- 13.5 (mg/mL), p = 0.04). CONCLUSIONS: There was no dynamic change of D-dimer or pro-BNP during the first 12 hours after admission in patients with acute NSTEMI, whereas hs-CRP decreased 12 hours after admission in these patients.

Blast noise propagation above a snow cover.

A porous medium model of a snow cover, rather than a viscoelastic treatment, has been used to simulate measured, horizontally traveling acoustic waveform propagation above a dry snow cover 11-20 cm thick. The waveforms were produced by explosions of 1-kg charges at propagation distances of 100 to 1400 m. These waveforms, with a peak frequency around 30 Hz, show pulse broadening effects similar to those previously seen for higher-frequency waves over shorter propagation distances. A rigid-ice-frame porous medium ("rigid-porous") impedance model, which includes the effect of the pores within the snow but ignores any induced motion of the ice particles, is shown to produce much better agreement with the measured waveforms compared with a viscoelastic solid treatment of the snow cover. From the acoustic waveform modeling, the predicted average snow cover depth of 18 cm and effective flow resistivities of 16-31 kPa s m(-2) agree with snow pit observations and with previous acoustic measurements over snow. For propagation in the upwind direction, the pulse broadening caused by the snow cover interaction is lessened, but the overall amplitude decay is greater because of refraction of the blast waves.

Sylvatic trichinosis in British Columbia: potential threat to human health from an independent cycle.

The results of a 3-year study of trichinosis in British Columbia wild-life, based on the testing of more than 9,000 tissue specimens from a large variety of animal species, indicated that trichinosis is widespread among wild mammals in the southern and central parts of British Columbia. This continuing survey has established that the disease is carried by at least 15 species of terrestrial mammals including 3 species of rodents. The finding of Trichinella spiralis in ground squirrels and nonsynanthropic mice may be the first reported in North America. Although trichinosis appears to be eradicated in domestic pigs in British Columbia, a sylvatic cycle of the disease continues to exist independently and poses a potential threat to human health. It is possible for human beings to contract trichinosis by consuming inadequately cooked meat from certain wildlife species, especially bears, as well as meat products (such as pork or beef sausage) to which game meat has been added; several local outbreaks were caused by this source. Another hazard of unknown potential is the spread of trichinosis from the wild animal reservoir--from rodents in particular--to domestic pigs and thus to man.

Caries-preventive effect of two concentrations of stannous fluoride mouthrinse.

The effectiveness of a stannous fluoride mouthrinse, when used once each school day, was investigated in a 3-year study. Effervescent stannous fluoride tablets of two concentrations were dissolved in 20 ml of water, giving solutions of 100 parts/10(6)F- and 200 parts/10(6)F- respectively. Approximately 1,200 children, with a mean age of 10 years, were divided on a random basis into three groups. Two of the groups rinsed with the two strengths of solution and the third group rinsed with a placebo. Examinations were carried out at the commencement of the study, and at yearly intervals thereafter. The final series was carried out a year after the rinsing procedures were terminated. There were significant reductions in the numbers of new caries in each of the two experimental groups as compared with the controls. The concentration of the solutions appeared to have little influence on the results. More dramatic reductions were noted in the teeth which erupted during the course of the study. A residual effect was demonstrated a year after the rinsing procedures were terminated.

Accidental deaths among British Columbia Indians.

A statistical and epidemiological review of British Columbia native Indian and non-Indian mortality revealed that accidents were the leading cause of death among Indians but ranked only fourth among non-Indians. Comparison of accidental death rates by age and sex showed that, without exception, the rates among Indians were considerably higher than the corressponding rates for non-Indians. While the Indians represented some 2% of the total population of British Columbia, they accounted for over 10% of the total accident fatalities, 29% of drownings, and 21% of fatal burns.Socioeconomic, environmental and psychosocial factors and excessive drinking are considered the chief causes responsible for this rather unusual epidemiological phenomenon.This study revealed certain hazardous conditions which are specific to the Indian's present way of life. In the authors' opinion the recognition of these specific hazards is imperative for the planning of effective preventive campaigns.