Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features.

Emanuel syndrome results from +der(22)t(11q23;22q11). Cleft palate, ear anomalies, heart defects, genital anomalies, hypotonia, and mental retardation are the main features of the syndrome. We report a nine-year-old boy with the t(11;22)(q23;q11) chromosome, transmitted in an unbalanced fashion from his mother, and originated in the maternal grandmother's meiosis. In addition to mental retardation, hypotonia, craniofacial anomalies, and cryptorchidism, he has novel findings such as, joint hyperextensibility, left liver lobe agenesis, left sided malposition of the gallbladder and pancreas hypoplasia. This is the first report associating these features with Emanuel syndrome.

Relationship between genetic polymorphisms of drug efflux transporter MDR1 (ABCB1) and response to losartan in hypertension patients.

OBJECTIVE: Losartan is a selective angiotensin II receptor type 1 blocker and a substrate of drug efflux transporter MDR1 (ABCB1). MDR1 shows inter-individual variations due to genetic polymorphisms. C3435T, G2677T and C1236T polymorphic alleles of the MDR1 gene encoding the transporter have been shown to alter the transport, bioavailability and efficacy of certain drugs. The purpose of this study was to investigate the relationship between genetic polymorphisms of MDR1 (C3435T, G2677T/A and C1236T) and response to the treatment in newly diagnosed hypertensive patients being treated with losartan. PATIENTS AND METHODS: A total of 74 newly diagnosed hypertension patients were included in the study. Genotyping was performed using PCR-RFLP. Systolic and diastolic mean blood pressure changes of the patients were expressed as a percentage (± SD). Blood pressure values prior to initiation of the treatment and subsequent measurements 6 weeks after starting the treatment were compared. RESULTS: Regarding the C3435T polymorphism, a mean decrease of systolic blood pressure in individuals with CT or TT genotype (n= 55; 11.6% ± 9.7 mmHg) was significantly higher compared with that of the CC genotype (n = 19; 6.7% ± 9.6 mmHg, p = 0.03). No significant systolic blood pressure changes observed in G2677T/A and C1236T genotypes (p = 0.13 and 0.07, respectively). There was not any significant difference in diastolic blood pressure changes between pre- and post-treatment for any of the genotypes with C3435T, G2677T/A, or C1236T variations. CONCLUSIONS: This study revealed that hypotensive response to losartan was significantly affected by the C3435T genetic polymorphism of MDR1 and hypertensive patients with MDR1 3435T allele may present a better response to losartan treatment.

Principles of good use of antibiotics in hospitals.

Rational use of antimicrobials is a key element for a successful strategy against development of resistance to antimicrobials. The physician should establish the need and the reason for therapy, select the appropriate antimicrobial agent, and then decide on the optimum dose and dosing interval, duration, as well as route of administration. In a particular hospital, the present status of antimicrobial use should be determined, and a strategy should be developed to improve it. This usually encompasses a combination of educative, facilitative and restrictive measures. Good infection control practice is a critical component for success of such a programme.

Joubert syndrome co-existing with partial Xp trisomy: review of the literature.

We report a five-year-old girl who has been clinically diagnosed as Joubert syndrome. Her cytogenetic analysis showed 46,XX,der(2)add(2q37) karyotype. Cytogenetic analysis of her mother and maternal grandmother revealed a karyogram designated as 46,X,t (X;2)(p11.2;q37). The proband's derivative chromosome was further confirmed to be a translocation chromosome 2 carrying segments from chromosome X, which originated from a segregation event of the maternal grandmother's balanced translocation passed on as a balanced translocation to the proband's mother either. So far, a number of candidate genes including EN1 on 2q were analyzed for Joubert syndrome. Based on our proband's abnormal karyotype, we suggest that further mapping studies for the syndrome should also be directed towards the chromosome X segments present on the derivative chromosome 2 of our proband.

Trisomy 9p syndrome in two brothers: with new clinical findings and review of the literature.

We report an eleven years old boy and his fourteen years old brother who both have trisomy 9p syndrome. Their cytogenetic analysis using GTL-banding showed 46,XY,der(22)add(22)(p11) karyotype. Cytogenetic analysis of their mother and sister revealed a karyogram designated as 46,XX,t(9;22) (9pter-->9p12::22p11-->22qter). With the help of FISH technique, the derivative chromosome in the proband was further confirmed to be a translocation chromosome 22 carrying the aforementioned segments from chromosome 9 which originated from a segregation event of a mother's balanced translocation. Regarding clinical aspects of our cases, both showed similar findings of 9p trisomy syndrome but low frontal hairline, circular placement of the hair around the face and scarce, inverted eyebrows, findings not previously mentioned in the literature. We conclude that these new clinical findings could be used in the clinical diagnosis of the 9p trisomy syndrome along with the other well-documented symptoms.

Epidemiology and outcome of sepsis in a tertiary-care hospital in a developing country.

Sepsis continues to have a substantial mortality and morbidity despite advances in the diagnosis and management of this condition. We retrospectively analysed hospital charts of patients diagnosed to have sepsis between January 2002 and June 2003. Demographic characteristics of patients, microbiological findings and predictors of survival were evaluated. Sixty-nine sepsis episodes that occurred in 63 patients were analysed. The most common underlying diseases were hypertension, malignancies and diabetes mellitus. Renal insufficiency, respiratory distress and disseminated intravascular coagulation developed in 52.2, 30.4 and 30.4% of the episodes respectively; 47.7% of the blood cultures yielded an organism. Gram-negative bacteria were the predominant microorganisms (65.9%). Fifty-five patients (87.3%) died. Mechanical ventilation and underlying renal disease were significant determinants of mortality. In conclusion, Gram-negative bacteria remain the major pathogens in sepsis. The mortality remains very high, and a change in the clinical approach to the septic patient should be employed to improve the outcome.

Detection of Candida dubliniensis in oropharyngeal samples of Turkish HIV-positive patients.

The incidence of Candida dubliniensis in immunocomprimised patients in Turkey has not yet been determined. In this study the presence of C. dubliniensis in oral rinse samples of human immunodeficiency virus (HIV)-positive patients and healthy controls were investigated. Phenotypic tests like inability of growth at 45 degrees C, colony formation on Staib agar, intracellular beta-D-glucosidase activity, carbohydrate assimilation profiles and polymerase chain reaction with species-specific primers (DUBF and DUBR) were carried out for differentiation of C. dubliniensis. Of the 35 patients, four (11.4%) had C.dubliniensis in their oral cavity. Antifungal susceptibility testing of these C. dubliniensis isolates showed fluconazole MICs ranging from <0.06 to 32 microg ml(-1) and amphotericin B from <0.06 to 0.25 microg ml(-1). One isolate was dose-dependently susceptible to fluconazole (32 microg ml(-1)). This study demonstrates C. dubliniensis in HIV-positive patients from Turkey.

Asthma-like symptoms prevalence in five Turkish urban centers.

BACKGROUND: Asthma, which is a chronic inflammatory disorder of the airways characterized by the infiltration of inflammatory cells, is a common cause of morbidity in adults. It is almost the third leading cause of preventable hospitalization in the developed countries and accounts for approximately millions of visits to emergency departments. METHODS: In this study, we aimed to determine asthma prevalence in five urban centers in Turkey. Three of the cities were located in the middle-west region of the Anatolia one of them as located across the Mediterranean cost and the last one was in the north part of the country. Data of totally 2353 participants was collected by the trained interviewers, who visited the households and administered the questionnaire to the household members at or over the age of 15 years. RESULTS: The prevalence of asthma was found to be 6.6 % and the difference of asthma prevalence between the urban centers was statistically non-significant (p = 0.059).

Expression of aphidicolin, FUdR and caffeine-induced fragile sites in lymphocytes of healthy Turkish individuals.

The expression of common fragile sites (c-fra) and frequency of chromosomal aberrations were studied in peripheral lymphocytes of 50 healthy Turkish individuals (26 males and 24 females from 1 to 87 years of age) after induction with aphidicolin (APC), 5'-fluorodeoxyuridine (FUdR), and caffeine. A correlation was seen between age and the frequency of chromosomal aberrations in APC and caffeine treated cultures, but there were no significant differences in the frequencies of chromosomal aberrations between males and females in any of the treatments. The mean frequency of aberrations induced by FUdR was significantly higher than that induced by APC and caffeine. A chromosome aberration is defined as a fragile site when present in 1% of the cells analyzed from each culture and in at least 50% of the individuals studied. Using these criteria, 12 c-fra were observed in the three treatments: 1p21, 1q21, 2p11-q11, 3p14, 4q31, 6q26, 7q22, 7q32, 8q24, 11q23, 16q23, and Xp22. Sites 3p14, 16q23, and Xp22 were the most frequently observed c-fra, with only the frequency of Xp22 being significantly increased in females in APC treated cultures. The results of these studies are important as a base against which the effects of other clastogenic and environmental agents, as well as genetic background, can be compared.

Not para-, not peri-, but centric inversion of chromosome 12.

A 39 year old male with primary infertility was diagnosed as having Klinefelter syndrome by conventional cytogenetic analysis, which also showed an abnormal chromosome 12. Fluorescence in situ hybridisation (FISH) analysis of the aberrant chromosome using a 12 specific centromeric probe showed a break in the alphoid repeats followed by an inversion within the short arm, resulting in a pseudodicentric chromosome. Further FISH analyses using telomeric and subtelomeric probes showed that the other breakpoint was in the subtelomeric region of the short arm. The karyotype is designated 47,XXY,inv(12)(p10p13.3). To our knowledge this is the first report of a case of "centric inversion".