Molecular basis of cystic fibrosis in the Republic of Macedonia

Petreska L, Koceva S, Plaseska D, Chernick M, Gordova-Muratovska A, Fustic S, Nestorov R, Efremov GD. Molecular basis of cystic fibrosis in the Republic of Macedonia. Clin Genet 1998: 54: 203–209. 0 Munksgaard, 1998
Eighty-three cystic fibrosis (CF) patients and their families, belonging to various ethnic groups living in the Republic of Macedonia were studied for molecular defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and for the associated extragenic marker loci XV-2c and KM 19. The DNA methodology used included characterization of CFTR mutations in 19 exons (and flanking sequences) of the gene and analysis of distribution of the XV-2c/KM19 haplotypes among normal (N) and CF chromosomes by polymerase chain reaction (PCR) amplification followed by dot blot hybridization, restriction digestion, single-strand conformational polymorphism, constant denaturing gel electrophoresis, denaturing gradient gel elec-trophoresis, and sequencing. We identified 58.4% (97/166) of the CF chromosomes. Nine different CFTR gene mutations, including three novel ones. were found. Eight known and one new CFTR intragene polymorphisrns were also characterized. The haplotype analysis of the XV-2c/TaqI and KM19/PstI polymorphic loci have shown that haplotype C is the most frequently found haplotype among the non-AF508 CF chromosomes from Macedonia (36.5%). The results demonstrate the broad heterogeneity of CF origin in this part of the Balkan Peninsula.     

Ethical and Policy Considerations for Centenarians—The Oldest Old

To illustrate the incongruence of ethical standards and fiscal and policy constraints on quality care for the oldest old. As the fastest growing demographic segment in the United States, care needs of the oldest old are a special challenge to the health care system.

Design:

Narrative analysis of interviews with centenarians who used nursing home services. The sample was three participants of the Georgia Centenarian Study who had been community dwelling and cognitively intact at the onset of participation (between 1988 and 1997). Interviews were conducted in nursing homes or after discharge.

Methods:

Case histories were constructed from interviews in 1997 to improve understanding of quality of care.

Findings:

Less-than-optimal care was provided for these elders, and little consideration was given to their input to care decisions and prospects for medical improvement. Appropriate consideration was not given to providing least-restrictive environments, appropriate restraint use, and options for community care.

Conclusions:

Six policy reforms are suggested for meeting the needs of the oldest-old before and after institutionalization. These include: integration of resident involvement in care decisions; development of alternate models of care; greater input from nurses concerning nursing care of special populations; more effective family and community involvement in the caring of elderly populations; increased research to promote function and independence; and increased education of personnel and nursing students to allow for more accurate assessment of cognitive and physical status.     

Individual differences in psychotic effects of ketamine are predicted by brain function measured under placebo

The symptoms of major psychotic illness are diverse and vary widely across individuals. Furthermore, the prepsychotic phase is indistinct, providing little indication of the precise pattern of symptoms that may subsequently emerge. Likewise, although in some individuals who have affected family members the occurrence of disease may be predicted, the specific symptom profile may not. An important question, therefore, is whether predictive physiological markers of symptom expression can be identified. We conducted a placebo-controlled, within-subjects study in healthy individuals to investigate whether individual variability in baseline physiology, as assessed using functional magnetic resonance imaging, predicted psychosis elicited by the psychotomimetic drug ketamine and whether physiological change under drug reproduced those reported in patients. Here we show that brain responses to cognitive task demands under placebo predict the expression of psychotic phenomena after drug administration. Frontothalamic responses to a working memory task were associated with the tendency of subjects to experience negative symptoms under ketamine. Bilateral frontal responses to an attention task were also predictive of negative symptoms. Frontotemporal activations during language processing tasks were predictive of thought disorder and auditory illusory experiences. A subpsychotic dose of ketamine administered during a second scanning session resulted in increased basal ganglia and thalamic activation during the working memory task, paralleling previous reports in patients with schizophrenia. These results demonstrate precise and predictive brain markers for individual profiles of vulnerability to drug-induced psychosis.     

AUDIT OF PATIENTS' EXPERIENCES AFTER ENDOSCOPY OF THE UPPER ALIMENTARY TRACT

SUMMARY This study comprises an audit of the experiences of upper alimentary endoscopy by 400 patients examined in 15 hospitals. The patients were asked to complete a 19-section questionnaire regarding their experience of the endoscopy before, during and after the procedure. The audit was carried out in order to evaluate the patients' understanding of the investigation and to determine the impact of the findings on the patients' level of anxiety. Of the 400 patients, 304 (76.0%) returned the questionnaire; overall satisfaction was revealed with the decision to proceed with endoscopy and with the procedure itself, as well as the reassurance provided by the investigation. The study thus supports the role of open-access endoscopy.     

Prevalence, causes, and outcome at 2 years of age of newborn encephalopathy: population based study

OBJECTIVES: To ascertain the prevalence of newborn encephalopathy in term live births, and also the underlying diagnoses, timing, and outcome at 2 years of surviving infants. DESIGN: Population based observational study. SETTING: North Pas-de-Calais area of France, January to December 2000. PATIENTS: All 90 neonates with moderate or severe newborn encephalopathy. RESULTS: The prevalence of moderate or severe newborn encephalopathy was 1.64 per 1000 term live births (95% confidence interval (CI) 1.30 to 1.98). The prevalence of birth asphyxia was 0.86 per 1000 term live births (95% CI 0.61 to 1.10). The main cause of newborn encephalopathy was birth asphyxia, diagnosed in 47 (52%) infants. It was associated with another diagnosis in 11/47 cases (23%). The timing was intrapartum in 56% of cases, antepartum in 13%, ante-intrapartum in 10%, and postpartum in 2%. In 19% of cases, no underlying cause was identified during the neonatal course. Twenty four infants died in the neonatal period, giving a fatality rate of 27% (95% CI 17% to 36%). Three infants died after the neonatal period. At 2 years of age, 38 infants had a poor outcome, defined by death or severe disability, a prevalence of 0.69 per 1000 term live births (95% CI 0.47 to 0.91). In infants with isolated birth asphyxia, this prevalence was 0.36 per 1000 term live births (95% CI 0.20 to 0.52). CONCLUSIONS: The causes of newborn encephalopathy were heterogeneous but the main one was birth asphyxia. The prevalence was low, but the outcome was poor, emphasising the need for prevention programmes and new therapeutic approaches.