Association of vitamin D receptor gene polymorphisms with chronic and aggressive periodontitis in Jordanian patients

Vitamin D acts through binding with vitamin D receptor (VDR) and is responsible for regulating bone metabolism and mineralization; it also suppresses the immune system. The aim of this study was to investigate if VDR gene polymorphisms are associated with chronic periodontitis (CP) and aggressive periodontitis (AgP) in a Jordanian population. A total of 99 patients with CP, 63 patients with AgP, and 126 controls were genotyped using PCR‐restriction fragment length polymorphism (RFLP) for BsmI, ApaI, and TaqI single nucleotide polymorphisms (SNPs). The association was determined after correcting for confounding factors using multivariate logistic regression analysis. Estimation of haplotype frequencies was carried out using the EH program, and haplotypes were constructed using the phase 2.1 program. After correcting for confounding factors, multivariate logistic regression analysis revealed that inheritance of the BsmI bb genotype or the ApaI aa genotype was associated with increased risk of developing CP (OR = 2.4 and OR = 3.4, respectively) but with reduced risk of developing AgP (OR = 0.4 and OR = 0.3, respectively). This was further supported by association of the ba haplotype with CP but not with AgP. This study supports an association of VDR gene polymorphisms with CP and AgP in a Jordanian population; however, the pattern of association was different between the two diseases.     

Prevalence of vaccination rates in systolic heart failure: a prospective study of 549 patients by age, race, ethnicity, and sex in a heart failure disease management program

Healthy People 2010 aims at immunizing 60% of high-risk adults annually against influenza and once against pneumococcal disease. The aim of this study was to evaluate the use of a standardized approach to improve vaccination rates in patients with heart failure (HF); to determine whether disparities exist based on age, race, ethnicity, or sex at baseline and follow-up; and to evaluate the impact of clinical variables on the odds of being vaccinated. A prospective study of 549 indigent patients enrolled in a systolic HF disease management program (HFDMP) began enrollment from August 2007 to January 2009 at Jackson Memorial Hospital. Patients were interviewed at their initial visit for immunization status; those without vaccinations were offered the vaccines. Prevalence of vaccination (POV) for influenza and pneumococcal disease was obtained at baseline and at follow-up. The odds ratio for being vaccinated was calculated using logistic regression. The study population comprised mostly Hispanic (56%), black (37%), and male (70%) patients, with a mean age of 56 ± 12 years and a mean ejection fraction of 25% ± 10%. The initial POV for both was 22% at baseline. At follow-up, POV improved to 60.5%. Of those not vaccinated at baseline, 17.5% refused vaccination. Odds ratios at baseline for age, race/ethnicity, and sex were 0.99 (P=.99), 0.63 (P=.08), and 0.62 (P=.14), respectively. These did not change significantly at follow-up. Prevalence of vaccination in our cohort was low. Enrollment into the HFDMP improved immunization prevalence without creating age, race, ethnicity, or sex disparities.     

Racial and sex differences in prevalence of hypothyroidism in patients with cardiomyopathies enrolled into a heart failure disease management program

The authors evaluated the prevalence of hypothyroidism in patients with heart failure (HF) to determine whether there are racial and sex differences and to determine the number of new cases of hypothyroidism. The study included 194 patients in an HF disease management program (HFDMP) in South Florida. Patients were interviewed for a history of hypothyroidism and referred for measurement of thyrotropin. The prevalence of hypothyroidism was calculated by race and sex. The prevalence of hypothyroidism was 18% for all patients with HF and 23% among Hispanics; however, this trend was not statistically significant (P = .06). More men than women had hypothyroidism (P = .04). Patients with hypothyroidism had higher mean lipid profiles (P < .01) and lower mean heart rates (P = .03) than healthy patients. Hypothyroidism is prevalent among HF patients, especially men. Hispanics with HF may have a higher prevalence of hypothyroidism. The standardized protocol of the HFDMP helped identify new cases of hypothyroidism.     

Combined use of Impella left ventricular assist device and extracorporeal membrane oxygenation as a bridge to recovery in fulminant myocarditis

Myocarditis may result in cardiogenic shock, and when medical therapy is unable to maintain adequate cardiac output, mechanical circulatory support is indicated. This is the first reported case of a percutaneous left ventricular assist device being used in combination with extracorporeal membrane oxygenation in a patient with biventricular and respiratory failure, as a bridge to recovery.     

Isolated nonspecific ST-segment and T-wave abnormalities in a cross-sectional United States population and Mortality (from NHANES III)

Most clinicians regard isolated, minor, or nonspecific ST-segment and T-wave (NS-STT) abnormalities to be incidental, often transient, and benign findings in asymptomatic patients. We sought to evaluate whether isolated NS-STT abnormalities on routine electrocardiograms (ECGs) are associated with increased risk of cardiovascular mortality (CM) and all-cause mortality (AM) in a cross-sectional United States population without known coronary artery disease. We included all adults 40 to 90 years of age without known coronary artery disease or risk equivalent based on history and laboratory values, enrolled in the NHANES III from 1988 to 1994, with electrocardiographic data available, and a total follow-up period of 59,781.75 patient-years. NS-STT abnormalities were defined by Minnesota Coding. Subjects were excluded if their mortality data were missing or if they had major electrocardiographic abnormalities, heart rate >120 beats/min, nonsinus rhythm, cardiac infarction/injury score ≥ 20 on ECG, left ventricular hypertrophy by Minnesota Codes 3.1 and 3.3, or patient-reported history coronary artery disease, congestive heart failure, stroke, diabetes, or peripheral arterial disease. The remaining 4,426 subjects were stratified by presence or absence of NS-STT abnormalities. Mortality was judged based on International Classification of Diseases, Tenth Revision coding linked to the National Death Index. Cox proportional hazard ratio was used for multivariate analysis, showing that CM (hazards ratio 1.71, 95% confidence interval 1.04 to 2.83, p = 0.04) and AM (hazards ratio 1.37, 95% confidence interval 1.03 to 1.81, p = 0.02) were significantly higher in the isolated NS-STT abnormalities group. In conclusion, isolated NS-STT abnormalities on ECG were associated with a higher incidence of CM and AM in this large nationally representative cross-sectional cohort without known coronary artery disease or coronary artery disease risk equivalents.     

A novel deletion causing (epsilon gamma delta beta) degrees thalassaemia in a Chilean family

We describe a novel deletion causing (epsilongammadeltabeta) degrees thalassaemia segregating in three generations of a Chilean family of Spanish descent. Heterozygotes for the deletion were all affected by neonatal haemolytic anaemia. The deletion of 152,569 bp extends from 77 kb upstream of the epsilon gene to 31 kb downstream of the beta gene, and includes the entire beta-globin gene cluster and two upstream olfactory receptor genes. Comparison of the sequences of the deletion junction with those of the flanking normal DNA suggests that the deletion results from a non-homologous recombination event. The insertion of 16 'orphan' nucleotides in the deletion junction creates a perfect inverted repeat of 12 nucleotides, forming a 12-bp stem with a four-nucleotide loop that could have contributed to the illegitimate recombination. The 3' breakpoint is located within an L1 family repeat that contains a perfect 160-bp palindrome, and is in close proximity to the 3' breakpoints of five other deletions in the beta cluster - Indian (HPFH-3), Italian (HPFH-4) and Vietnamese GgammaAgamma (deltabeta) degrees HPFH, German and Belgian Ggamma (Alphagammadeltabeta) degrees thalassaemia.     

Survival of fastidious and nonfastidious aerobic bacteria in three bacterial transport swab systems

In the present study, we followed the CLSI procedure M40-A to evaluate three specimen transport systems [the new BD CultureSwab MaxV(+), the new Remel BactiSwab, and the Medical Wire & Equipment Transwab] for the survival of fastidious and nonfastidious organisms for 0, 6, 24, and 48 h at room temperature. BD CultureSwab MaxV(+) outperformed the other two swabs for the recovery of the three fastidious organisms, Haemophilus influenzae, Neisseria gonorrhoeae, and Neisseria meningitidis for up to 48 h. Indeed, BD CultureSwab MaxV(+) maintained a constant number of viable H. influenzae and N. meningitidis for up to 48 h, and only a 2 log reduction was noted for N. gonorrhoeae, fulfilling the requirements of M40-A guidelines. However, unlike Remel BactiSwab and the Medical Wire & Equipment Transwab, which fulfilled the M40-A requirements for maintaining the viability of Streptococcus pneumoniae, BD CultureSwab MaxV(+) could not maintain the viability of S. pneumoniae reference or clinical strains past 6 h. Excellent overall sensitivity (98%) (95% confidence interval, 89.5 to 99.7) was observed when the BD CultureSwab MaxV(+) rectal swabs were compared to the "gold standard" stool cultures. Thus, the BD CultureSwab MaxV(+) rectal swab can be used when investigating gastrointestinal bacterial outbreaks or when health care providers face difficulties in obtaining stool samples, particularly from children.     

Molecular changes during progression from nonmuscle invasive to advanced urothelial carcinoma

Molecular changes occurring during invasion and clinical progression of cancer are difficult to study longitudinally in patient-derived material. A unique feature of urothelial bladder cancer (UBC) is that patients frequently develop multiple nonmuscle invasive tumors, some of which may eventually progress to invade the muscle of the bladder wall. Here, we use a cohort of 73 patients that experienced a total of 357 UBC diagnoses to study the stability or change in detected molecular alterations during cancer progression. The tumors were subtyped by gene expression profiling and analyzed for hotspot mutations in FGFR3, PIK3CA and TERT, the most frequent early driver mutations in this tumor type. TP53 alterations, frequent in advanced UBC, were inferred from p53 staining pattern, and potential genomic alterations were inferred by gene expression patterns at regions harboring frequent copy number alterations. We show that early driver mutations were largely preserved in UBC recurrences. Changes in FGFR3, PIK3CA or TERT mutation status were not linked to changes in molecular subtype and aggressive behavior. Instead, changes into a more aggressive molecular subtype seem to be associated with p53 alterations. We analyze changes in gene expression from primary tumors, to recurrences and progression tumors, and identify two modes of progression: Patients for whom progression is preceded by or coincides with a radical subtype shift, and patients who progress without any systematic molecular changes. For the latter group of patients, progression may be either stochastic or depending on factors already present at primary tumor initiation.     

SMOC2 gene variant and the risk of vitiligo in Jordanian Arabs

Generalized vitiligo is a common autoimmune disorder, characterized by patchy loss of pigmentation due to melanocyte death. It is a multifactorial disorder in which multiple genes and environmental triggers contribute to the expression of the phenotype. Different genetic variants can have varying effects on having vitiligo. Recently, an SMOC2 variant (rs13208776) was reported to be associated with vitiligo in Caucasian patients from an isolated founder population. In this study, we investigate the association of SMOC2 variant with Jordanian Arab vitiligo patients. Forty-four patients with generalized vitiligo and 151?matched normal controls were recruited. DNA samples were obtained from patients and controls and samples were genotyped for SMOC2 variant by restriction fragment length polymorphism. Allelic?frequency of the less common allele (A allele) was 29.5% in patients compared to 19.6% in the controls (p = 0.27). Genotypic frequency for AA was 4.5% in patients and 7.9% in controls while heterozygous genotypes were 50% for patients and 33.1% in controls. Genotypes did not show statistical difference in patients versus control (p = 0.12). Our data shows that the variant rs13208776 in SMOC2 gene does not play a major role in increasing the risk of vitiligo in Jordanian Arab patients. This is in contrast to the previous association reported for?Caucasian patients from an isolated patient population in Romania. This signifies genetic differences in the two populations.