Epidemiology of Cleft Lip and Palate

Orofacial cleft (OFC) anomalies are amongst the most common congenital anomalies and the most common craniofacial anomalies. Despite their poorly characterized etiologies, cases of OFC are usually grouped by epidemiological studies as cleft lip, with or without cleft palate (CL/P), and cleft palate alone (CPO). Incidence of CL/P and CPO differs according to gender and ancestry and may vary widely across studies. Cases of OFC are characterized as either “syndromic” or “nonsyndromic,” with further classification of nonsyndromic cases into isolated cases and cases that present with additional malformations. The genetic bases for many syndromic cases of OFC have been previously elucidated. Genetic associations have been described for nonsyndromic OFC as well. Importantly, etiology of OFC is known to involve interaction between genetic and environmental factors, including maternal nutrition and exposure to teratogenic agents. Furthermore, evidence points toward epigenetic as well as genetic factors influencing OFC etiology. Recent studies have begun to explore the association between CL/P and cancer. These studies report higher incidence of cancer among patients with CL/P and their family members as well as identification of common genetic markers mediating this increased risk, although much remains unknown about this link

Comparison of estrogens and estrogen metabolites in human breast tissue and urine

<p>Abstract</p> <p>Background</p> <p>An important aspect of the link between estrogen and breast cancer is whether urinary estrogen levels are representative of the intra-tissue levels of bioavailable estrogens.</p> <p>Methods</p> <p>This study compares 15 estrogen and estrogen metabolite levels in breast tissue and urine of 9 women with primary breast cancer using a quantitative liquid chromatography-mass spectrometry method.</p> <p>Results</p> <p>The average levels of estrogens (estrone, 17 beta-estradiol) were significantly higher in breast tissue than in urine. Both the 2 and the 16-hydroxylation pathways were less represented in breast tissue than urine; no components of the 4-hydroxypathway were detected in breast tissue, while 4-hydroxyestrone was measured in urine. However, the 2/16 ratio was similar in urine and breast tissue. Women carrying the variant CYP1B1 genotype (Leu/Val and Val/Val) showed significantly lower overall estrogen metabolite, estrogen, and 16-hydroxylation pathway levels in breast tissue in comparison to women carrying the wild type genotype. No effect of the CYP1B1 polymorphism was observed in urinary metabolites.</p> <p>Conclusions</p> <p>The urinary 2/16 ratio seems a good approximation of the ratio observed in breast tissue. Metabolic genes may have an important role in the estrogen metabolism locally in tissues where the gene is expressed, a role that is not readily observable when urinary measurements are performed.</p

Left ventricular diastolic function in normotensive adolescents with different genetic risk of hypertension.

Abnormalities of the diastolic function of the left ventricle are the first sign of cardiac involvement in arterial hypertension. We have studied the diastolic function in a group of normotensive adolescents with confirmed family history of hypertension. M-mode echocardiography was performed in 86 normotensive males aged 14-19 years: 41 sons of at least one hypertensive parent (SHT) and 45 sons of normotensive parents (SNT). Cross-sectional area of the left ventricle and left ventricular (LV) mass index were significantly greater in the SHT than in the SNT group (10.05 +/- 1.84 vs. 8.9 +/- 1.56 cm/m2, p less than 0.01 and 129.3 +/- 296.3 vs. 109.23 +/- 25.7 g/m2, p less than 0.002, respectively). No significant difference between the two groups was observed in the indices of left ventricular diastolic function, except for mitral valve opening rate (463.51 +/- 90.45 in SHT vs. 416.71 +/- 78.84 mm/s in SNT; p less than 0.02). From the analysis of the subgroup of adolescents having left ventricular mass greater than the upper normal value, we observed that they showed mean time of rapid filling significantly longer than SNT: this could represent an early marker of the pathological character of such hypertrophy. Our results suggest that the higher LV mass observed in the SHT is not associated with chamber and myocardial stiffness abnormalities

Early predictors of smoking cessation after myocardial infarction

The determinants of long-term smoking cessation were evaluated in 80 patients who smoked cigarettes and survived a myocardial infarction. All patients underwent a program of rehabilitation and secondary prevention including in-hospital counseling and physician-guided reinforcing sessions at 1, 3, and 6 months after discharge. At 18 months of follow-up, 53 patients (66.3%) had quit smoking. Variables associated with smoking cessation were duration of hospital stay greater than or equal to 19 days (79 vs. 48%; p less than 0.005) and peak creatine phosphokinase (CPK) elevation greater than or equal to 500 U/l (76 vs. 54%; p less than 0.05). Males tended to quit in higher proportion than females (68 vs. 44%). Age, prior myocardial infarction, other cardiovascular risk factors, infarction location, Killip class at entry, and duration of stay in coronary care unit did not significantly affect the quitting rates. Logistic regression analysis singled out the duration of hospital stay as a significant predictor of smoking cessation (p less than 0.005). Early and intensive secondary prevention during the hospital stay is crucial in promoting sustained smoking cessation after myocardial infarction

Arm position as a source of error in blood pressure measurement

The present study was designed to assess the value of correct positioning of a patient's arm when measuring blood pressure (BP). A total of 181 subjects were examined, 141 hypertensives on treatment, 25 untreated hypertensives, 15 normotensives. All the subjects underwent three BP measurements after a 5-min resting period in supine position. Then two BP readings were recorded in standing position with the arm either positioned by the patient's side or supported passively at patient's heart level. Average systolic BP (SBP) in standing position were 144.6 +/- 20.2 mmHg with the arm at the side and 136.4 +/- 21.1 mmHg with the arm at the heart level (p less than 0.001); average diastolic pressures were 99.0 +/- 12.0 mmHg and 90.2 +/- 12.3 mmHg (p less than 0.001), respectively. A fall in SBP greater than or equal to 20 mmHg from the supine to the upright position was detected in 18.2% of cases when measurement was performed at heart level; such a reduction was inapparent in two-thirds of cases when the arm was placed at the patient's body side. Incorrect positioning of a patient's arm during BP measurements in standing position leads to overestimation of BP values and masks the presence of postural hypotension

Liver Cancer Disparities in New York City: A neighborhood wiew of risk and harm reduction factors

Introduction: Liver cancer is the fastest increasing cancer in the United States and is one of the leading causes of cancer-related death in New York City (NYC), with wide disparities among neighborhoods. The purpose of this cross-sectional study was to describe liver cancer incidence by neighborhood and examine its association with risk factors. This information can inform preventive and treatment interventions. Materials and methods: Publicly available data were collected on adult NYC residents (n = 6,407,022). Age-adjusted data on liver and intrahepatic bile duct cancer came from the New York State Cancer Registry (1) (2007-2011 average annual incidence); and the NYC Vital Statistics Bureau (2015, mortality). Data on liver cancer risk factors (2012-2015) were sourced from the New York City Department of Health and Mental Hygiene: (1) Community Health Survey, (2) A1C registry, and (3) NYC Health Department Hepatitis surveillance data. They included prevalence of obesity, diabetes, diabetic control, alcohol-related hospitalizations or emergency department visits, hepatitis B and C rates, hepatitis B vaccine coverage, and injecting drug use. Results: Liver cancer incidence in NYC was strongly associated with neighborhood poverty after adjusting for race/ethnicity (β = 0.0217, p = 0.013); and with infection risk scores (β = 0.0389, 95% CI = 0.0088-0.069, p = 0.011), particularly in the poorest neighborhoods (β = 0.1207, 95% CI = 0.0147-0.2267, p = 0.026). Some neighborhoods with high hepatitis rates do not have a proportionate number of hepatitis prevention services. Conclusion: High liver cancer incidence is strongly associated with infection risk factors in NYC. There are gaps in hepatitis prevention services like syringe exchange and vaccination that should be addressed. The role of alcohol and metabolic risk factors on liver cancer in NYC warrants further study

Incidence of Second Primary Cancer in Transplanted Patients

Background. Solid organ transplanted patients have a three-to fourfold higher lifetime risk of developing a cancer than the general population. However, the incidence of a second primary cancer in transplanted patients has never been studied, despite the fact that the presence of regular follow-ups and the increased survival of these patients make them a very attractive model. Methods. We investigated the incidence of a second primary cancer (SPC) in 7,636 patients who underwent a kidney, liver, lung or heart transplant between 1970 and 2004, and were followed-up for 51,819 person-years. Results. During the follow-up, 499 subjects developed a first cancer (annual incidence: 98.6ϫ10,000 PY), and 22 of them developed a SPC (annual incidence: 3.9ϫ10,000 PY). The annual incidence of a SPC in the transplanted patients who developed a first cancer was 107.8ϫ10,000 PY, giving a standardized incidence ratio of 1.1 (95% CI: 0.83-1.41). Conclusions. This result shows that the incidence of the SPC was the same as the incidence of a first cancer. Our study does not indicate an increased risk of SPC in transplanted subjects who already suffered a first malignancy

Racial differences in prostate inflammation: Results from the REDUCE study

Prostate cancer (PC) risk differs between races, and we previously showed prostate inflammation in benign prostate tissue was linked with a lower future PC risk. However, whether prostate tissue inflammation varies by race is unknown. We analyzed baseline acute and chronic prostate inflammation by race in REDUCE, a 4-year, multicenter, placebo-controlled study where all men had a negative prostate biopsy prior to enrollment. We included 7,982 men with standardized central pathology review to determine the presence or absence of chronic or acute inflammation in baseline prostate biopsy tissue. Logistic regression was used to compare prostate inflammation by race, adjusting for confounders. Of 7,982 men, 7,271 were white (91.1%), 180 (2.3%) black, 131 (1.6%) Asian, 319 (4.0%) Hispanic and 81 (1%) unknown. A total of 78% had chronic and 15% had acute inflammation. On multivariable analysis relative to white men, black men were less likely (OR = 0.65, 95%CI: 0.41-1.03