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Diagnostic flow chart for targeted detection of alpha1-antitrypsin deficiency.

BACKGROUND: Alpha1-antitrypsin (AAT) deficiency is under-recognized, probably because many individuals affected show no clinical impairment. The targeted detection is a tool to increase its recognition. METHODS: We prospectively submitted to AAT serum levels determination, phenotyping and, if doubtful, genotyping: (i) patients with the early onset of emphysema, emphysema in absence of recognized risk or pneumothorax (path P), antineutrophil cytoplasm antibodies (ANCA) positive vasculitis (path V), cervical artery dissection (path A), Periodic acid-Schiff (PAS) positive bodies in the liver cell or unexplained abnormal transaminase level (Path L) [index cases: IC] and (ii) subjects with low-serum alpha1-globulin (path e) and close relatives of patients with AAT deficiency (path r) [non index cases: NIC]. We determined and compared gender, age, AAT serum levels values, the ratio between AAT deficiency subjects identified and all subjects examined (identified/examined). Receiver operating characteristic (ROC) curve was plotted to find the best threshold for AAT serum levels. RESULTS: Two hundred and eighty-five individuals were examined and 211 with AAT deficiency identified: 66 were IC and 145 NIC. The ratio identified/examined resulted 0.74. A serum level of 120 mg/dL was able to identify AAT deficiency with a specificity of 73% and a sensitivity of 97%. IC showed male prevalence (P=0.005), more advanced age (P=0.02), lower AAT serum levels (P=0.008). CONCLUSIONS: Our protocol is effective to detect AAT deficiency in a selected population. About 120 mg/dL (nephelometric method) is a reliable AAT serum level cut-off for selecting subjects/patients to submit to phenotype or genotype; as compared to NIC, IC are older, mostly male and with lower AAT serum levels.

Adult↗

Hemispheric involvement in the perception of syntactic prosody is dynamically dependent on task demands.

The first aim of this study was to determine if there was a significant perceptual asymmetry for syntactic prosody and if it differed from the perceptual asymmetry for emotional prosody. The second aim of this study was to determine if the observed asymmetries were the product of task demands or stimulus features. Experiment 1 consisted of a Syntactic task and an Emotional task. In the Syntactic task, subjects identified Statement and Question prosody in dichotically presented sentences. In the Emotional task, subjects identified Angry and Sad prosody in dichotically presented sentences. There was a significant left ear advantage for the Emotional task and no significant ear advantage for the Syntactic task. In Experiment 2, subjects had to perform an Emotional prosody task with the syntactic Statement and Question prosody stimuli from Experiment 1. There was a significant left ear advantage, indicating that the perceptual asymmetry was determined by task demands and not stimulus features.

Brain↗

The pattern of psychiatric disorders among the aged in a selected community in Nigeria.

OBJECTIVE: To describe the common mental disorders in elderly Nigerians living at home. METHOD: A house-to-house survey of a rural community was conducted to identify subjects who were aged 60 years and above. The subjects were interviewed with the Self-Reporting Questionnaire (SRQ-24) and the Geriatric Mental State Schedule (GMS). Psychiatric syndromal diagnoses were made with the Clinical and Research ICD-10 manuals (ICD-10/ICD-10, DCR). RESULTS: The overall rate of major mental disorders was 23.1%, with depression constituting 79% of all the diagnoses. Specific dementia disorders were not found in any of the subjects (N=164), but 20.7% complained of forgetfulness. Use of tobacco (snuff), (local) alcohol, and other substances were common. No subject with any identified disorder was receiving any medical attention. CONCLUSION: The study reveals the same range of mental disorders as in studies carried out elsewhere. This suggests that if similar methodologies are used, the mental morbidity rates among the elderly in different parts of the world may be about the same. There is a need for adequate planning to accommodate the social security and mental health needs of old Nigerians.

Aged↗

Parenting style in relation to pathogenic and protective factors of Type A behaviour pattern.

BACKGROUND: Studies of type A behaviour pattern suggest that it can be promoted as a whole by certain parental rearing styles. However, the association of the different components of the type A behaviour with specific rearing practices has not been clarified. METHOD: The relationship between parents' rearing style and the different type A behaviour components of their children was analysed in a sample of 312 university students. Parental rearing style was assessed with the EMBU, a Swedish measure originally designed to assess one's recollections concerning one's parents rearing behaviour. Type A pattern was measured by the JAS, a self-administered questionnaire that gives the global type A score and three of its components. RESULTS: Hard Driving was related to Rejection and Favouring Subject in males. Speed-Impatience was related to Rejection and Control in both sexes, and Job Involvement was related to Control and Favouring Subject in females. In a discriminant factor analysis in males, Rejection, Control and Favouring Subject on the part of fathers classified correctly 80% of the subjects identified as having high or low Speed-Impatience and the variables of Rejection and Favouring Subject (also by fathers) classified correctly 69.23% of the subjects identified as high or low Hard Driving. In females, Control and Favouring Subject on the part of mothers and low Rejection by fathers classified correctly 70.37% of the subjects with high or low Job Involvement. CONCLUSION: These results suggest that different rearing characteristics are related to the various components of the type A behaviour pattern.

Adult↗

Health, health care utilization and living conditions in foreign-born diabetic patients in southern Sweden.

OBJECTIVES: To compare foreign- and Swedish-born diabetic subjects regarding health care utilization, complications, clinical and socio-economic characteristics. DESIGN: Cross-sectional study. SETTING: All known diabetic patients living in six defined primary health care districts. SUBJECTS: Of 1861 identified subjects aged > 25 years 90.1%. 113 foreign- and 1564 Swedish-born subjects participated. Mean time of residence in Sweden was 32 +/- 1.2 years, 93% > 10 years. MAIN OUTCOME MEASURES: A standardized interview, a physical examination and an evaluation of medical records. RESULTS: No differences were found regarding living conditions or health care utilization, with the exception of higher use of home-care from public authorities in Swedish-born subjects (P < 0.05) despite no difference in dependency on help according to Katz's ADL index. There were no major differences in objective health (glycaemic control and complications related to diabetes) with the exception of lower frequency of sensory neuropathy (P < 0.01) and peripheral vascular disease (P < 0.05) in foreign-born subjects. The prevalence of diabetes was 2.1% (95% CI 1.7-2.5) in the foreign-born and 2.6% (95% CI 2.5-2.7) in Swedes. Foreign-born individuals were five years younger (P < 0.001), were more often diagnosed > or = 30 years (P < 0.05), had a two years' shorter duration of disease (P < 0.001) and were less often treated with insulin (P < 0.01). Treatment with insulin was related to the duration and presence of complications related to diabetes. CONCLUSIONS: There were no major differences in objective health or use of health care in European migrants with diabetes mellitus, mainly Scandinavians, with short cultural distance and long residence in Sweden compared to Swedish-born diabetic patients.

Activities of Daily Living↗

Mentally disabled research subjects. The enduring policy issues.

Mentally disabled adults often serve as subjects in research on mental illness, developmental disabilities, dementia, and other conditions associated with mental impairment. Since US regulatory policy fails to resolve many ethical issues presented by such research, investigators and institutional review boards must determine the appropriate standards and procedures for studies involving adults with mental disabilities. Procedures for capacity assessment and information disclosure should enhance the autonomy of capable subjects and accurately identify subjects incapable of independent choice. Research teams should inform proxy decision makers of their ethical responsibities. Decisionally incapable adults objecting to research involvement should rarely be included in studies. Researchers, institutional review boards, advocacy groups, and federal officials should collaborate to improve evaluation of risks and potential benefits to decisionally incapable subjects. These groups should also seek consensus on appropriate risk limits in studies presenting no prospect of direct benefit to decisionally incapable subjects. Finally, subject populations should be represented in research planning and review activities.

Adult↗

A community-based study of near-fatal asthma.

BACKGROUND: The purpose of this study was to describe the community-based impact of near-fatal asthma within the District of Columbia (Washington, DC). METHODS: The design was a prospective cohort study. Subjects included all persons in 1993 who presented to Washington, DC hospitals alive, requiring intubation for respiratory failure (including subjects who subsequently died in the hospital). Washington, DC hospitals were contacted on a biweekly basis to identify subjects. Patients were contacted by mail, followed by an interview with the subject or proxy. RESULTS: Of the 35 case subjects identified, 31 (88.6%) were interviewed. Sixty-one percent of the subjects were female; 84% were African-American; and 45.2% were less than 18 years old. Forty-five percent had asthma for 10 or more years. Twenty-three percent reported the emergency department as their usual source of health care, and 32% saw a provider on a weekly basis. Fifty-two percent were taking four or more prescription medications, and 29% were taking no anti-inflammatory medications. In the 24 hours before the event, 77% reported difficulty breathing, but only 64% reported contacting a health care provider. CONCLUSIONS: Community-based investigation of near-fatal asthma may lead to a better characterization of risk factors associated with this event. Findings from this study suggest that some of the factors associated with near-fatal events may be different from those associated with fatal asthma and that up to one third of the events may have been preventable.

Adolescent↗

Identification of individual walking patterns using time discrete and time continuous data sets.

Scientific studies typically treat data by studying effects of groups. Clinical therapy typically treats patients on a subject specific basis. Consequently, scientific and clinical attempts to help patients are often not coordinated. The purposes of this study were (a) to identify subject and group specific locomotion characteristics quantitatively, using time discrete and time continuous data and (b) to assess the advantages and disadvantages of the two approaches. Kinematic and kinetic gait pattern of 13 female subjects walking in dress shoes with different heel heights (14, 37, 54 and 85 mm) were analysed. The results of this study showed that subject specific gait characteristics could be better identified with the time continuous than with the time discrete approach. Thus, the time continuous approach using artificial networks is an effective tool for identifying subject and group specific locomotion characteristics.

Adult↗

Comparison of the functional properties of three different truncated thyroid hormone receptors identified in subjects with resistance to thyroid hormone.

The tau4 domain in the extreme carboxyl (C) terminal region of thyroid hormone receptor (TR) is important to transactivation. We identified three truncated TRbeta1s with 11 (F451X), 13 (E449X) and 16 (C446X) amino acid deletions within this domain in subjects with resistance to thyroid hormone (RTH). F451X and C446X were found in a 6-year-old Japanese girl and a 31-year-old American male, respectively, who had both severe mental retardation. E449X was identified in a 16-year-old Japanese boy with no remarkable clinical symptoms except for goiter. Transient expression study revealed that all three mutants had negligible T3 binding and transcriptional activities. Each mutant TRbeta1 exhibited not only very strong dominant negative activity against wild TRbeta1, but also marked silencing activity. Interestingly, the dominant negative activity and silencing activity were significantly stronger in F451X than in E449X and C446X (P < 0.05). Gel-shift experiments revealed no apparent differences in homodimer formations of wild-type or mutant TRbeta1 proteins and in heterodimer formations with retinoid X receptor (RXR). These observations indicate that the tau4 domain affects diverse TR functions, and that the region between 11 and 13 C-terminal amino acids influences ligand-independent TR functions, including dominant negative and silencing activities. The central nervous system involvement is not necessarily determined by the dominant negative potency of the mutant TRbeta1 and other environmental or genetic factors may influence the RTH manifestations.

Adolescent↗

Laterality differences in speaker and consonant identification in dichotic listening.

Two dichotic listening experiments assess the lateralization of speaker identification in right-handed native English speakers. Stimuli were tokens of /ba/, /da/, /pa/, and /ta/ pronounced by two male and two female speakers. In Experiment 1, subjects identified either the two consonants in dichotic stimuli spoken by the same person, or identified two speakers in dichotic tokens of the same syllable. In Experiment 2 new subjects identified the two consonants or the two speakers in pairs in which both consonant and speaker distinguished the pair members. Both experiments yielded significant right-ear advantages for consonant identification and nonsignificant ear differences for speaker identification. Fewer errors were made for speaker judgments than for consonant judgments, and for speaker judgments for pairs in which the speakers were of the same sex than for pairs in which speaker sex differed. It is concluded that, as in vowel identification, neither hemisphere clearly dominates in dichotic speaker identification, perhaps because of minor information loss in the ipsilateral pathways.

Attention↗

Neuropsychological reference groups for 9- through 14-year-old subjects with identified learning disabilities.

The neuropsychological reference groups reported in this study are based on a sample of 1,325 learning-disabled subjects aged 9 through 14 drawn from a midsize midwestern metropolitan community. The sample was composed of 1,006 males and 319 females. Separate means and standard deviations, reported for each gender and age group, were generated for 31 measures ordinarily included as part of the Halstead Neuropsychological Test Battery for Children. Several comparisons were made with other norms previously reported. The need for additional neuropsychological reference groups for children is discussed.

Journal Article↗

Abuse of flunitrazepam (Rohypnol) and other benzodiazepines in Austin and south Texas.

Flunitrazepam (Rohypnol) is a benzodiazepine sedative-hypnotic that has generated significant media attention in the United States because of its abuse and its association with "date rape." A field investigation was conducted in south Texas to ascertain the nature and consequences of the abuse of flunitrazepam. In semistructured interviews, 66 subjects identified as flunitrazepam users were asked about their use of alcohol and other drugs and their sexual behaviors. Many subjects identified the drugs they had used as "roches" and gave descriptions of tablets of other benzodiazepines that were not consistent with flunitrazepam. Almost all subjects used other drugs, primarily alcohol and marijuana. Adverse consequences included amnesia, discoordination, automobile accidents, sexual assault, and respiratory depression or arrest. A significant proportion of the subjects reported that continued use was unappealing to them. The abuse of sedative-hypnotics in southeast Texas involves several benzodiazepines and is not limited to flunitrazepam.

Adolescent↗

Adult coeliac disease: prevalence and clinical significance.

BACKGROUND AND AIMS: Although coeliac disease is a common condition, the role of population screening is not clear. The aim of this study was to determine the prevalence and clinical significance of coeliac disease in the adult population of Christchurch, New Zealand. METHODS: A total of 1064 adults randomly selected from the 1996 Christchurch electoral rolls were enlisted. The subjects were screened for coeliac disease using the anti-endomysial antibody test (EMA), and all those with positive tests were reviewed and underwent a small bowel biopsy. RESULTS: Twelve of the 1064 persons tested (1.1%) were EMA positive and all had small bowel biopsy histology consistent with coeliac disease. Two of the 12 subjects were previously known to be EMA positive although neither had a small bowel biopsy. One additional subject with known and treated coeliac disease was also enrolled but was EMA negative. Thus, the overall prevalence of coeliac disease was 13 of 1064 subjects (1.2%, or 1:82), 10 of whom were newly diagnosed (0.9%, or 1:106) and three were previously known or suspected to have coeliac disease (0.3%, or 1:355). The prevalence in both sexes was similar. Nine of the 12 EMA-positive coeliac disease subjects identified by the use of screening reported symptoms, of which tiredness and lethargy were the most common. The subjects were of normal stature, although females tended to be lean. None of the subjects were anaemic, but four were iron deficient and four folate deficient. Five of the 12 had sustained bone fractures. Bone mineral density was reduced in males but not in females. CONCLUSIONS: The prevalence of coeliac disease in the adult population of Christchurch, New Zealand, is 1.2%. Unrecognized coeliac disease which was detected by population screening was three-fold more common than proven or suspected coeliac disease. Population screening may identify subjects who could benefit from treatment.

Adult↗

Perceptual versus postperceptual mediation of visual context effects: evidence from the letter-superiority effect.

Two experiments demonstrated letter-context effects that cannot easily be accounted for by postperceptual theories based on structural redundancy, figural goodness, or memory advantage. In Experiment 1, subjects identified the color of a letter fragment more accurately in letter than in nonletter contexts. In Experiment 2, subjects identified the feature presented in a precued color more accurately in letters than in nonletters. We argue that these effects result from top-down perceptual processing.

Adult↗

Discriminative ability of dual-energy X-ray absorptiometry site selection in identifying patients with osteoporotic fractures.

Dual-energy X-ray absorptiometry (DXA) is the gold standard method for measurement of bone mineral density (BMD). The aims of the current study are to compare the ability of BMD measurements to identify subjects with vertebral fractures (VF), when the lumbar spine (LS), hip or both sites are measured. 460 subjects aged 73+/-5.2 years participated in the study. Thoraco-lumbar spine radiographs were obtained and analyzed for the presence of VF using the visual semi-quantitative assessment. BMD of the LS and the left femur were measured by DXA. Eighteen men (12%) and 56 women (20%) had at least one VF. 16% of scans at the LS were unreadable because of the presence of degenerative changes. In both genders, BMD of the hip showed better ability than LS BMD in detecting subjects with osteoporosis. BMD and T-score values at the hip, but not the LS, were lower in subjects with VF than those without (p<0.05). Femoral neck BMD showed the highest OR for each S.D. decrease in BMD for identifying subjects with VF, and the best predictability for prevalent VF using ROC. Fracture risk prediction did not increase by adding the spine to the hip measurement. In conclusion, hip BMD was the only and best skeletal site needed to detect subjects with osteoporosis and showed the strongest relationship with prevalent vertebral fractures in elderly subjects.

Absorptiometry, Photon↗

Sheffield risk and treatment table for cholesterol lowering for primary prevention of coronary heart disease.

When used for the secondary prevention of coronary heart disease, treatment with an inhibitor of hydroxymethylglutaryl-coenzyme-A reductase results in worthwhile benefit that clearly exceeds any risk in patients whose risk of coronary death is 1.5% or more per year. This evidence can be extrapolated logically to primary prevention of coronary disease provided that treatment is targeted at those with similar or higher risk. We present a table that refines previously proposed methods of risk prediction. The table identifies subjects who have the specified degree of coronary risk; shows the serum cholesterol concentration that confers that degree or risk in the individual; and identifies subjects who will not have this degree of risk, irrespective of their cholesterol concentration. It is simple enough for use in ordinary practice. The table highlights the predominant effect of age on coronary risk; a person who is free of vascular disease and younger than 52 years is unlikely to have the specified degree of risk. Even in older people (60-70 years) several risk factors are generally required to attain this degree of risk. Some people are candidates for lipid- lowering drug treatment with serum cholesterol as low as 5.5 mmol/L, whereas others with cholesterol as high as 9.0 mmol/L are not. Although cholesterol lowering is a powerful method for preventing coronary events in people at high risk, cholesterol measurement by itself is not a good way to identify those with high coronary risk. The method can be adapted readily to target a different level of coronary risk as new evidence on the benefit and risk of treatment becomes available.

Adult↗

Relationship between the discrimination of (w-r) and (t-d) continua and the identification of distorted (r).

The purpose of this study was to assess the extent to which listeners can perceive intraphonemic differences. In Experiment 1, subjects identified synthesized acoustic tokens of child-like speech that varied in second and third formant (F2 and F3) onset frequencies as (w), (r), or distorted (r) in two conditions: (a) with and without feedback of the group response choices, and (b) before and after training to identify the best examples of (w), (r), and distorted (r) based on their identification in the first condition. The results were: (a) some subjects consistently identified distorted (r) above criterion, and (b) feedback was more effective in increasing distorted (r) identification than was training. In Experiment 2, the same subjects participated in discrimination tasks using stimuli from a synthesized child (w-r) continuum that varied in F2 and F3 onsets and from a synthesized adult (t-d) continuum that varied in preconsonantal vowel duration. The results were: (a) perception was not categorical for both continua, (b) little relation was found between distorted-(r) identification and measures of (w-r) discrimination, and (c) a high and significant correlation was found between identification of distorted (r) and within-(d) discrimination. In Experiment 3, different subjects identified the child manifold stimuli and discriminated stimuli in a synthesized child (w-r) continuum and in a synthesized adult (t-d) continuum. The results were: (a) neither (w-r) or (t-d) perception was categorical although the former came closer than the latter in terms of individual subject performance, (b) there was a high and significant correlation between distorted-(r) identification and within-(r) discrimination of (w-r) stimuli, and (c) there were high and significant correlations between distorted-(r) identification and mean, cross-category boundary, and within-(t) discrimination of (t-d) stimuli.

Adult↗

Health-related quality of life in obesity: the role of eating behaviour.

A poor health-related quality of life (HRQL) has been repeatedly documented in obesity. Overweight per se and associated diseases affect physical fitness, whereas mental well-being depends on social, cultural and behavioural components. Very few studies are available on HRQL in obese persons in relation to eating behaviour. We measured HRQL by means of Short-Form-36 questionnaire in 183 obese subjects, seeking specific treatment at a University-based weight management center. Only half had a Body Mass Index exceeding 35 kg/m2. Data were compared to age- and gender-adjusted normative values of the Italian population (2031 subjects). The Binge Eating Scale (BES) and the Three-Factor Eating Questionnaire (TFEQ) were used to assess eating behaviour. Most domains of HRQL were impaired in obese subjects, more severely in younger subjects and in females. The severity of overweight progressively affected physical fitness, but had a minor effect on mental status. In over 50% of subjects, BES and TFEQ identified a binge eating pattern, more frequently in females. A positive BES, as well as lower restriction, higher disinhibition and hunger values at TFEQ, identified subjects with poorer HRQL. Logistic regression analysis identified in a positive BES the variable more closely associated with low scores in mental domains of perceived HRQL. Waist-to-hip ratio, degree of obesity, osteoarticular and respiratory diseases, but also positive BES, were selected as variables more closely associated with poor physical fitness. HRQL is variably impaired in obese persons seeking treatment for their disease, mainly in patients with binge eating. Treatment of binge eating may be as important as any weight-reducing intervention for the overall well-being of the majority of obese persons.

Adult↗