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Jacobs syndrome

XYY syndrome is a aneuploidy of the sex chromosomes in which a human male receives an extra Y chromosome in each cell, hence having a karyotype of 47,XYY. XYY syndrome is also called Jacob's Syndrome, XYY-trisomy, 47,XYY aneuploidy, or Supermale syndrome. more...

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First case

The first published report of a man with a 47,XYY chromosome constitution was by Dr. Avery A. Sandberg, et al. of Buffalo, New York in 1961. It was an incidental finding in a normal 44-year-old, 6 ft. tall man of average intelligence.

Effects

Physical traits

XYY syndrome typically causes no unusual physical features or medical problems. Males with this syndrome may be slightly taller than average and are typically a few centimeters taller than their father and siblings.

Skeletal malformations may also accompany XYY syndrome at a higher rate than in the general population. Severe facial acne has occasionally been reported, but dermatologists specializing in acne (Plewig & Kligman, 2000) now doubt the existence of a relationship with XYY. Several other physical characteristics, including large hands and feet, have been associated (although not definitively) with XYY syndrome. Any physical characteristics, however, are usually so slight that they are insufficient evidence to suggest a diagnosis.

Most males with XYY syndrome have normal sexual development and are able to conceive children.

Since there are no distinct physical characteristics, the condition usually is only detected during genetic analysis for other reasons.

Behavioral characteristics

XYY boys have an increased risk of minor speech and motor skill delays and learning disabilities with roughly half requiring some special education intervention. Behavior problems are common but are not unique to XYY boys and managed no differently than XY boys.

Cause and prevalence

XYY syndrome is not inherited, but usually occurs as a random event during the formation of sperm cells. An error in cell division called nondisjunction can result in sperm cells with an extra copy of the Y chromosome. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra Y chromosome in each of the body's cells. In some cases, the addition of an extra Y chromosome occurs as an accident during cell division in early fetal development.

The incidence of this condition is approximately one in 850 males.

Read more at Wikipedia.org


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Whole grain intake decreases risk of metabolic syndrome
From Nutrition Research Newsletter, 3/1/05

Current evidence suggests that individuals with metabolic syndrome are at an increased risk of type 2 diabetes and cardiovascular disease. The metabolic syndrome is defined as a pattern of metabolic disturbances that include central obesity, insulin resistance, hyperglycemia, dyslipidemia, and hypertension. Although the precise prevalence of this syndrome is unknown, existing data suggest that the incidence is rising at an alarming rate. In Tehran, Iran, it has been estimated to occur in > 3% of adults, a prevalence that is significantly higher than in most developed countries. While there is no globally accepted definition of the metabolic syndrome, most investigators assume that insulin resistance is the fundamental metabolic defect underlying metabolic syndrome. Insulin resistance in association with increased serum apolipoproteins B concentrations and high concentrations of small, dense LDL cholesterol in the serum have been called a metabolic triad that could be identified by an inexpensive screening tool called the hypertriglyceridemic waist (HW) phenotype.

Subjects with HW were nearly four times as likely to have angiographically defined coronary artery disease compared to subjects who did not have HW phenotype. Previous studies showed that the HW phenotype is widespread in the urban population of Tehran, with an estimated prevalence of 19% in men and 32% in women. Most published reports on the diet-disease relation have researched on the role of nutrients in chronic diseases, and comparatively little emphasis was placed on the specific contribution of foods, especially whole-grain foods. Whole grains contain higher amounts of fiber, vitamin E, magnesium, antioxidants, and phytoestrogens than do non-whole-grain foods. Little research has been conducted on the physiologic effects of a diet high in whole grains. A recent study was conducted to assess the association between whole-grain consumption and HW phenotype in an urban population of Tehranian adults.

The study was conducted within the framework of the Tehran Lipid and Glucose Study (TLGS), a prospective study performed in a representative sample of residents of Tehran. A total of 827 subjects (357 men and 470 women) aged 18 yr to 74 yr were utilized for the current analysis. Usual dietary intake was assessed using a 168-item semiquantitative food-frequency questionnaire (FFQ). Investigators used a procedure developed by Jacobs et al for classifying foods as whole or refined grains. The subjects' height and weight were measured and their body mass index (BMI) was calculated. Waist-to-hip ratio was calculated as waist circumference (WC) divided by hip circumference. Blood samples were drained and assessed for lipids. HW phenotype was defined as serum triacylglycerol concentrations of > 150 mg/dL and concurrent WC of > 80 cm (men) and > 79 cm (women).

Mean ([+ or -] standard deviation consumption of whole and refined grains was 93 [+ or -] 29 and 201 [+ or -] 57 gm/day, respectively. Subjects in the highest quartile of whole-grain intake had a significantly lower prevalence of HW (29%) than did those in the lowest quartile (44%; P <0.05). Conversely, those in the highest quartile of refined-grain intake had a significantly higher prevalence of HW (45%) than did those in the lowest quartile (27%; P<0.05). After control for potential confounding factors, a significantly decreasing trend was observed for the risk of HW phenotype across quartiles of whole-grain intake (odds ratios among quartiles: 1.00, 0.95, 0.90, and 0.78 respectively; P for trend = 0.02). Higher consumption of refined grains was associated with better odds of HW phenotype (by quartile: 1.00, 1.38, 1.65, and 2.1; P for trend = 0.01).

Whole-grain intake appears to be inversely associated with and refined-grain intake positively associated with the risk of HW.

A. Esmaillzadeh, P. Mirmiran, F. Azizi. Whole-grain intake and the prevalence of hypertriglyceridemic waist phenotype in Tehranian adults. Am J Clin Nutr; 81:55-63 (January, 2005). (Correspondence: F. Azizi, Endocrine Research Center, Shaheed Beheshti University of Medical Sciences, PO Box 19395-4763, Tehran, IR Iran. E-mail: azizi@erc.ac.ir).

COPYRIGHT 2005 Frost & Sullivan
COPYRIGHT 2005 Gale Group

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