Acceptability of the Cognition Test Battery in Astronaut and Astronaut-Surrogate Populations.

BACKGROUND: Sustained high levels of astronaut cognitive performance are a prerequisite for mission success. A neuropsychological battery of 10 brief cognitive tests (Cognition) covering a range of cognitive domains was specifically developed for high performing astronauts to objectively assess cognitive performance. Extended mission durations require repeated cognitive testing and thus high acceptability of the Cognition software to the astronaut population. The aim of this qualitative study was to evaluate acceptability of Cognition to astronauts and astronaut surrogate populations. METHODS: Cognition was administered repeatedly to N=87 subjects (mean age ±SD 35.1 ±8.7 years, 52.8% male) on a laptop or iPad across five individual studies on the International Space Station or in space analog environments on Earth. Following completion of each study, participants were interviewed regarding their experience using Cognition in a semi-structured debrief. Participant comments were analyzed using a qualitative conventional content analysis approach. RESULTS: The majority of participants' comments (86.1%) were coded as positive or neutral in valence, with most positive comments relating to software usability, engagement, and overall design. Among the 10 Cognition tests, subjects liked the Visual Object Learning Test most (28 likes, 32.2% of participants), while the Emotion Recognition Test was liked least (44 dislikes, 50.6% of participants). Some subjects (36.8%) were frustrated with the level of difficulty of some of the 10 Cognition tests, especially during early administrations, which was by design to avoid ceiling effects in repeated administrations of high-performers. Technical difficulties were rare (20.7% of participants), and most often observed in environments with restricted internet access. Most participants (82.3% of those who commented) liked the feedback provided by Cognition after each test, which includes a graph showing performance history. CONCLUSION: Cognition was found to be acceptable to astronaut and astronaut-surrogate populations across a variety of settings and mission durations. Participant feedback provided was used to further improve Cognition and increase its acceptability during sustained space missions.

Orthognathic bimaxillary surgery in two patients with osteogenesis imperfecta and a review of the literature.

Orthognathic surgery in patients with osteogenesis imperfecta is rare. Most cases result in a successful outcome with stable and good occlusion. Two patients with, probably severe types III and IV, and malocclusion class III with retrognathic maxilla and prognathic mandible, were treated with orthodontic treatment and bimaxillary surgical correction. The surgical outcome and follow up are presented together with a review of published cases of orthognathic surgery in patients with different types of osteogenesis imperfecta. The authors conclude that it is possible to perform combined orthodontic and orthognathic surgery in patients with osteogenesis imperfecta despite the greater risk of complications. The treatments were successful with follow up times of 5-6 years.

Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes.

The aim of this study was to characterize Swedish families with non-syndromic cleft lip and/or palate (NSCL/P) for mutations or other sequence variants in the interferon regulatory factor 6 (IRF6) gene, as well as to describe their cleft phenotypes and hypodontia. Seventeen Swedish families with at least two family members with NSCL/P were identified and clinically evaluated. Extracted DNA from blood samples was used for IRF6 mutation screening. Exonic fragments of the IRF6 gene were sequenced and chromatograms were inspected. Statistical analysis was undertaken with marker- and haplotype association tests. No disease-associated IRF6 mutation could be determined in the families analyzed. One new and seven known single nucleotide polymorphisms (SNPs) were detected. The A allele of SNP rs861019 in exon 2 and the G allele of SNP rs7552506 in intron 3 showed association with cleft lip and palate (CLP; odds ratios of 3.1 and 5.45, respectively). Hypodontia was observed more commonly in individuals affected with CL/P as compared with family members without a cleft (P < 0.01). The hypodontia most often affected the cleft area, possibly representing a secondary effect. The distribution of cleft phenotypes in 15 of the 17 families with NSCL/P differed from the mixed cleft types seen in Van der Woude syndrome (VWS), in that CLP did not occur together with an isolated cleft palate within the same family. It was concluded that mutations of the IRF6 gene are not a common cause for cleft predisposition in Swedish NSCL/P families.

Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.

The Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, cleft lip and/or cleft palate. It is the most common cleft syndrome. VWS has shown remarkable genetic homogeneity in all populations, and so far, all families reported have been linked to 1q32-q41. A large Finnish pedigree with VWS was recently found to be unlinked to 1q32-q41. In order to map the disease locus in this family, a genome wide linkage scan was performed. A maximum lod score of 3.18 was obtained with the marker D1S2797, thus assigning the disease locus to chromosomal region 1p34. By analyses of meiotic recombinants an approximately 30 cM region of shared haplotypes was identified. The results confirm the heterogeneity of the VWS syndrome, and they place the second disease locus in 1p34. This finding has a special interest because the phenotype in VWS closely resembles the phenotype in non-syndromic forms of cleft lip and palate.

Linkage analysis of candidate regions in Swedish nonsyndromic cleft lip with or without cleft palate families.

OBJECTIVE: To analyze linkage of five candidate regions for nonsyndromic cleft lip with or without palate (CLP) on chromosome 2p13, 4q, 6p23, and 19q13; in addition chromosome 1q32, the locus for van der Woude syndrome, on Swedish CLP families. DESIGN: Three to five linked microsatellite markers were selected from each candidate region. Polymerase chain reaction (PCR) with fluorescent-labeled microsatellite markers was performed on DNA samples from the participating families. Electrophoresis of the PCR products was performed on a laser-fluorescent DNA sequencer. The genotype data were analyzed with multipoint linkage analysis. Modes of inheritance tested included two autosomal dominant, an autosomal recessive, and a nonparametric model. Multipoint logarithm of odds (LOD) scores were also calculated by assuming genetic heterogeneity. PARTICIPANTS: Nineteen Swedish multigenerational families with at least two first-degree relatives affected with CLP. Greater than 50% of the families studied show vertical transmission of the clefting phenotype and both inter- and intrafamilial variability were noted. RESULTS: Cumulative multipoint LOD scores for the whole group of families calculated under autosomal dominant modes of inheritance were negative in all regions and less than -2 except chromosome 6p23. LOD scores calculated under recessive inheritance and the nonparametric model were inconclusive. There was no significant evidence of genetic heterogeneity among the sample group. CONCLUSIONS: The group of Swedish CLP families did not demonstrate significant linkage to any of the five candidate regions examined. This might suggest a new but yet unknown CLP locus or loci in this family group. However, because linkage could not be excluded in some individual families, they should still be tested with candidate genes from these regions.

Clinical and genetic studies of Van der Woude syndrome in Sweden.

Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, hypodontia and cleft lip and/or cleft palate. It has been reported as the most common form of syndromic orofacial clefting with very high penetrance and varied expressivity. The disease locus for VWS has been mapped to chomosome 1q32, but the gene is yet to be cloned. Here we report a total of 11 Swedish VWS patients: 9 familial cases from two families and two isolated cases. Clinical examination of these patients showed phenotypic variability, even between patients from the same family. Genetic studies were performed using four microsatellite markers from chromosome 1q32. Constitutional deletion in this region was not demonstrated in any of the familial or isolated cases. However, in the two VWS families, linkage analysis using these markers showed positive LOD (logarithm of the odds) scores ranging from 2.56 to 2.88 to all individual markers. The highest LOD score of 3.75 was obtained with the combined haplotypes of D1S491 and D1S205, thus confirming linkage of VWS in these two families to 1q32. We conclude that there is varied expressivity but no evidence of genetic heterogeneity in VWS.

Comparison between two types of pharyngeal flap with regard to configuration at rest and function and speech outcome.

OBJECTIVE: In management of hypernasality, wide pharyngeal flaps have been advocated when pharyngeal wall adduction is limited. Pharyngeal flaps merged into a transversely split velum (TS flaps) are reported to be wider than if the velum is split in the midline (MS flaps). The hypothesis to be tested was that TS flaps are wider than MS flaps and are more caudally based. DESIGN: In this prospective study, MS flaps were videoradiographically and nasopharyngoscopically compared with TS flaps at both rest and function. Pharyngoplasty was randomly performed by one of three surgeons and the radiographic examinations were carried out by one radiologist. The speech was assessed pre- and postoperatively. SETTING: The Stockholm Cleft Palate Team, Sweden, treated all patients. PATIENTS: After strict selection of the patients to avoid any uncontrolled impact on velopharyngeal sphincter function, 22 patients with limited pharyngeal adduction received TS flaps and 20 patients with good adduction received MS flaps. RESULTS: The data failed to show any difference in location of flap base and in flap width at rest. During function, TS flaps demonstrated statistically significant widening of the flap base. TS flaps, but not MS flaps, often had a bulge that appeared to assist velopharyngeal closure in some patients. Speech evaluation revealed that both flap types corrected velopharyngeal insufficiency equally well. CONCLUSIONS: TS flaps were not wider than MS flaps, and functional plasticity of the TS flap appeared essential for elimination of velopharyngeal insufficiency. Contribution of postoperative adaptation of the pharyngeal wall adduction remains to be clarified.

Adaptation of pharyngeal wall adduction after pharyngeal flap surgery.

OBJECTIVE: The purpose of this investigation was to study lateral pharyngeal wall adduction relative to pharyngeal flaps of different widths. The hypothesis to be tested was that pharyngeal wall adduction does not increase postoperatively but may decrease due to the mechanical hindrance of a wide flap. DESIGN: In this prospective study, adaptation of lateral pharyngeal wall adduction during speech was studied relative to pharyngeal flaps of different widths utilizing videoradiography. Flap width was determined nasopharyngoscopically. SETTING: All patients were treated by the Stockholm Cleft Palate Team, Sweden. PATIENTS: Fifty-three patients were strictly selected by discarding conditions known to exert uncontrolled influence on velopharyngeal sphincter function. RESULTS: The results revealed a potential for adaptation of pharyngeal wall adduction to different flap widths. The magnitude and character (increase or decrease) of change in adduction was significantly correlated with the degree of preoperative adduction and with the width of the flap. In patients with limited preoperative adduction, pharyngeal wall activity increased, more in the presence of a narrow flap while less if the flap was wide. When preoperative adduction was pronounced, the postoperative activity decreased because of mechanical hindrance by the flap, and the degree of impediment was correlated to the width of the flap. CONCLUSION: A potential for increased lateral pharyngeal wall adduction after pharyngeal flap surgery was verified, but the result cannot be interpreted as generally applicable because of the strict selection of patients.

MR imaging of lipoma and liposarcoma.

PURPOSE: To evaluate whether lipoma, atypical lipomatous tumors, and liposarcomas can be differentiated by MR images. MATERIAL AND METHODS: The MR images of 59 lipomatous lesions and liposarcomas were retrospectively reviewed. Apart from size, surgical site, location and margins, the percentage of fat of the tumor volume was assessed as none, 1-75%, 75-95%, or 95-100%. RESULTS: None of the 18 liposarcomas contained fat that could be recognized by MR imaging. The 3 atypical lipomatous tumors all contained fat but less than 75% of the tumor volume. In 32 of 38 ordinary lipomas, the percentage of fat was 95-100%, and in 4 less than 95% of the tumor volume. Two lipomas did not contain fat that could be recognized by MR imaging. CONCLUSION: A lesion which predominantly has a fat signal is, in all probability, an ordinary lipoma. Lesions with less fat, but still mostly fatty, may either be lipoma or atypical lipomatous tumor. In this group, the discrimination between these two entities cannot be based upon imaging features. In the absence of a fat signal, liposarcoma or lipoma cannot be differentiated from other soft tissue tumors.

Incidence of cleft lip and palate and risks of additional malformations.

OBJECTIVE AND METHODS: Children with cleft lip and/or palate (n = 251) born between 1991 and 1995 in the county of Stockholm, Sweden, were studied with reference to incidence and rate ratios (RRs) of different types of clefts, gender, birth weight, mother's age, and length of pregnancy. Children who had clefts and additional malformations were compared with children who had clefts but no additional malformations. RESULTS: The incidence of clefts was 2.0/1000 live births, and it was higher among males than among females. The RR, an index of relative risk, was 1.58. The main groups, children with isolated cleft lip, children with cleft lip and palate, and children with isolated cleft palate, showed similar incidence values (0.6-0.7/1000 live births). Children with bilateral clefts had an incidence of 0.3/1000 live births. Additional malformations were found in approximately every sixth newborn with a cleft when children with Robin sequence were excluded. There was a tendency for newborns with bilateral clefts to have additional malformations (RR = 1.36; confidence interval = 0.74-2.49). Children with clefts and additional malformations had lower birth weight and were born earlier than children with clefts only. CONCLUSION: Preterm cleft children with low birth weight should be screened for the presence of other birth defects.

Time to B. cereus about hot chocolate.

OBJECTIVE: To determine the cause of illnesses experienced by employees of a Minneapolis manufacturing plant after drinking hot chocolate bought from a vending machine and to explore the prevalence of similar vending machine-related illnesses. METHODS: The authors inspected the vending machines at the manufacturing plant where employees reported illnesses and at other locations in the city where hot chocolate beverages were sold in machines. Tests were performed on dry mix, water, and beverage samples and on machine parts. RESULTS: Laboratory analyses confirmed the presence of B. cereus in dispensed beverages at a concentration capable of causing illness (170,000 count/gm). In citywide testing of vending machines dispensing hot chocolate, 7 of the 39 licensed machines were found to be contaminated, with two contaminated machines having B. cereus levels capable of causing illness. CONCLUSIONS: Hot chocolate sold in vending machines may contain organisms capable of producing toxins that under favorable conditions, can induce illness. Such illnesses are likely to be underreported. Even low concentrations of B. cereus may be dangerous for vulnerable populations such as the aged or immunosuppressed. Periodic testing of vending machines is thus warranted. The relationship between cleaning practices and B. cereus contamination is an issue for further study.

Career aspirations to higher leadership positions of nurse faculty middle managers.

The purpose of this study was to determine the attitudes of nurse faculty who worked full time in midlevel management positions in baccalaureate degree schools of nursing in order to identify those factors related to career aspirations to higher leadership positions such as deanship. Thirty-seven nurse midmanagers from 30 of the 40 baccalaureate degree schools of nursing in the Midwest completed the three-part questionnaire composed of a demographic profile, Johnson's Faculty Satisfaction Instrument, and Guilbert's Health Care Work Powerlessness Scale (revised). Selected results of this study indicated that the majority of nurse faculty middle managers did not view their current position as a career step to deanship (56.76 per cent) nor did they have career aspirations to a higher leadership position (62.16 per cent). The primary reason reported for this lack of career aspiration was family responsibilities. They did not perceive powerlessness or job satisfaction (P < .05) as an issue in their decision. Career aspirations to a higher leadership position was reported greater when the salary was higher and the perception was stronger that the current position was a career step to deanship (P < .05). They reported the lowest degrees of job satisfaction in reference to parking (SD = 1.79) and leadership of the dean (SD = 1.61).

Oronasal fistulas in cleft palate patients and their influence on speech.

The size, site, and influence on speech of oronasal fistulas were studied in 12 patients with unilateral and 32 with bilateral cleft lip and palate. There were more and larger fistulas in the bilateral group. The series was divided into: those with fistulas that affected speech (group A, n = 18) and those with fistulas that did not affect their speech (group B, n = 26). Group A had significantly larger fistulas than group B, but there were no differences in the sites of the fistulas, either between the bilateral and unilateral groups or between groups A and B. Most fistulas were located in the region of the incisive foramen or in the hard palate. Judgements by listeners and analyses by the NORAM instrument were made of the speech of 12 of the patients in group A before and after temporary covering of the fistulas. Significant differences in hypernasality, according to both listener's judgments and instrumental analyses were found. This finding is further evidence that an oronasal fistula can influence and contribute to velopharyngeal dysfunction.

NORAM--an instrument used in the assessment of hypernasality: a clinical investigation.

The speech of 102 patients with complete unilateral and bilateral cleft lip and palate and 40 noncleft subjects was analysed using the NORAM (Nasal Oral Ratio Meter) instrument. The results obtained were compared with the perceptual judgments made by experienced listeners. A significant correlation was found between the NORAM values and the listener judgments. The NORAM instrument can thus be used as a complement to listener judgments in assessing hypernasality. A discussion of the acoustic and phonetic aspects of the differences between the instrumental and perceptual results is presented.

Morphologic effect of preoperative maxillofacial orthopedics (T-traction) on the maxilla in unilateral cleft lip and palate patients.

Sixty-eight children born with complete unilateral cleft lip and palate were studied using dental casts taken at ages 0-0.1; 0.2-0.4; and 0.5-0.6 years of age. They were all treated with preoperative maxillofacial orthopedics using an external device (T-traction). The treatment was started after the first model was taken. Dental casts were analyzed regarding the morphology of the cleft region and the maxillary segments before and after treatment. The measurements were compared with measurements on dental casts of nontreated cleft children of similar age. The results suggest that a more normal anatomy of the cleft region occurs during the first 6 months of life whether preoperative maxillofacial orthopedics (T-traction) is used or not. However, this normalized growth seems to occur faster with the T-traction.

Speech in unilateral and bilateral cleft palate patients from Stockholm.

The speech of 84 patients with complete unilateral cleft lip and palate and 19 patients with complete bilateral cleft lip and palate was judged by professional listeners and compared with a control group of 40 noncleft subjects. The unilateral cleft group consisted of two subgroups: one group of 45 patients, who were treated with presurgical orthopedics before primary surgery, and one group of 39 patients, who were not. The speech of the patients and the noncleft subjects was tape recorded and randomly mixed prior to listener judgments. No significant differences in articulation or resonance were found between the subgroups of unilateral cleft patients. The results also indicated that the bilateral cleft patients had poorer speech and needed more speech therapy than the unilateral cleft patients. All cleft patients were found to have poorer speech than the noncleft subjects in spite of considerable speech therapy and complementary surgical treatment. This has resulted in a change in the Stockholm approach toward earlier palatal surgery, tailor-made pharyngeal flap operations, and earlier parental information and treatment of articulatory deviations.

Middle ear disease in cleft palate children at three years of age.

Fourty-four cleft palate children consecutively referred to a plastic surgery unit were treated with palate repair at one year of age by one surgeon. The children were not routinely treated with ventilating tubes for middle ear disease. At 3 years of age they were investigated for aural pathology. Also specific antipneumococcal antibody activity was measured and was found to be compatible with the activity found in healthy age-matched control children. In the cleft palate children with no immaturity of the immune system only a slight increase in frequency of acute otitis media was evident. One third of the children had however suffered from long-standing secretory otitis media which can be regarded to be more common than what has been found in the normal population in several epidemiologic studies. At 3-4 years of age 82% of the children had a normal hearing indicating an improvement of the condition.

Tongue posture in cleft palate patients with a pharyngeal flap.

Position of the tongue was studied in lateral cineradiographic pictures of 15 patients with cleft palate and velopharyngeal incompetence, and from ten unaffected reference subjects. The patients were examined before and after pharyngoplasty. Before operation there was no difference in the degree of tongue/velum contact between the patients and the reference subjects, but after the operation, contact was lost in 13 of the 15 patients because the tongue was lowered and the velum raised by the pharyngeal flap. This contradicts the previous theory that the position of the tongue should be expected to be higher to maintain the posterior oral seal. The tongue was in a more posterior position in the patients than in the reference subjects both before and after operation. After operation the tip of the tongue retracted into the anterior oral cavity. The posterior and downward change in position of the tongue may account for part of the posterior and downward growth pattern of the lower third of the face which occurs in children after pharyngoplasty. A loss of tongue-lip balance around the premaxilla may be one of the factors that causes the maxillary retrusion that has been reported after pharyngoplasty in patients with cleft palates.

Craniofacial development in children with unilateral clefts of the lip, alveolus, and palate treated according to three different regimes. Assessment of nasolabial appearance.

From extraoral photographs taken from the front and in profile of 61 16-year old children with unilateral cleft lip, alveolus, and palate (UCLAP) who had been treated by three different treatment regimes, the nasolabial appearances were assessed by a panel. The photographs were masked, leaving only the mid face including the nose and lips. The following features were assessed using a five point scale: nasal form, symmetry of the nose, vermilion of the upper lip, shape of the vermilion border, total symmetry of upper lip, and nasal profile including the upper lip. The number and type of secondary operations required were recorded. Intraobserver reliability was good but interobserver agreement was poor, some observers systematically scoring more severely than others. A panel of six was therefore set up to establish an acceptable mean assessment. The treatment regime that included secondary bone grafting, and the one that included primary bone grafting and presurgical orthopaedic-T-traction, scored better on all features assessed compared with the group that underwent primary bone grafting but no T-traction. The latter group required fewer secondary revisionary procedures, however, which could explain these results.