Image:autorecessive.png
Find information on thousands of medical conditions and prescription drugs.

Bloom syndrome

Bloom syndrome is a genetic condition characterized by prenatal growth delay and a butterfly rash in the mid-face region. The most serious characteristics of this condition are a predisposition to cancer and infections. Intelligence is usually not affected in this disorder, although mild mental retardation has been seen in some cases. No effective treatment is available at this time. Death from cancer usually occurs before age 30. The disease is believed to be caused by defective DNA repair and it is sometimes classified as a "segmental progeria" ("accelerated aging" disease. more...

Home
Diseases
A
B
Babesiosis
Bacterial endocarditis
Bacterial food poisoning
Bacterial meningitis
Bacterial pneumonia
Balantidiasis
Bangstad syndrome
Bardet-Biedl syndrome
Bardet-Biedl syndrome
Bardet-Biedl syndrome
Bardet-Biedl syndrome
Barrett syndrome
Barth syndrome
Basal cell carcinoma
Bathophobia
Batrachophobia
Batten disease
Becker's muscular dystrophy
Becker's nevus
Behcet syndrome
Behr syndrome
Bejel
Bell's palsy
Benign congenital hypotonia
Benign essential tremor...
Benign fasciculation...
Benign paroxysmal...
Berdon syndrome
Berger disease
Beriberi
Berylliosis
Besnier-Boeck-Schaumann...
Bibliophobia
Bicuspid aortic valve
Biliary atresia
Binswanger's disease
Biotinidase deficiency
Bipolar disorder
Birt-Hogg-Dube syndrome
Blastoma
Blastomycosis
Blepharitis
Blepharospasm
Bloom syndrome
Blue diaper syndrome
Blue rubber bleb nevus
Body dysmorphic disorder
Boil
Borreliosis
Botulism
Bourneville's disease
Bowen's disease
Brachydactyly
Brachydactyly type a1
Bradykinesia
Bright's disease
Brittle bone disease
Bromidrosiphobia
Bronchiectasis
Bronchiolotis obliterans...
Bronchopulmonary dysplasia
Brown-Sequard syndrome
Brucellosis
Brugada syndrome
Bubonic plague
Budd-Chiari syndrome
Buerger's disease
Bulimia nervosa
Bullous pemphigoid
Burkitt's lymphoma
Byssinosis
Cavernous angioma
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
Medicines

Bloom syndrome is inherited in an autosomal recessive fashion. Both parents must be carriers in order for a child to be affected. The carrier frequency in individuals of Eastern European Ashkenazi ancestry is about 1/100. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers of Bloom syndrome.

Read more at Wikipedia.org


[List your site here Free!]


Defining the metabolic syndrome in children
From Nutrition Research Newsletter, 10/1/04

The current definitions of the metabolic syndrome focus on the adult population. A specific criterion for early diagnosis in children and adolescents has not been established. Because the best approach for the prevention of metabolic syndrome is early recognition, methods of defining it in young people is necessary.

A cross-sectional investigation was performed to determine the prevalence of the metabolic syndrome among children and adolescents aged 10-18 years from northern Mexico and evaluate a definition for its early diagnosis in the young population. A detailed medical and family history was obtained and physical examination performed for all participants. Prevalence of the metabolic syndrome was estimated according to the National Cholesterol Education Program Adult Treatment Panel III, World Health Organization, American Association of Clinical Endocrinologists (AAACE), and European Group for the Study of Insulin Resistance (EGIR) definitions. Additionally, for developing a metabolic syndrome definition in children and adolescents, the investigators, the Research Group on Diabetes and Chronic Illnesses (REGODCI), modified the adult criteria in accordance with the reference values of the report of the National Cholesterol Education Pediatric Panel, Bloom garden's report on type 2 diabetes in the young, and the updated Task Force report on the diagnosis and management of hypertension in childhood. High blood pressure, obesity, and high triglycerides levels were defined.

Data was analyzed for 965 children and adolescents with an average age of 13.0 [+ or -] 2.6 years and BMI of 23.5 [+ or -] 5.8 kg/[m.sup.2]. Prevalence of the metabolic syndrome, according to the Adult Treatment Panel III, AACE, World Health Organization, EGIR, and REGODCI definitions was 6.5% (95% CI 4.7-7.8), 7.7% (6.0-9.4), 4.5% (3.2-5.8), 3.8% (2.6-5.1), and 7.8% (6.1-9.5), respectively. A total of 697 (72.2%) of subjects were lean; among them at least one family phenotype, one clinical trait, or one abnormal laboratory criterion was identified in 43.8, 21.3, and 20.6%. Sixty-one (8.7%) lean subjects fulfilled the REGDODCI criterion for laboratory test, establishing diagnosis of the metabolic syndrome in 13 (21.3%; 95% CI 11.8-33.7) of them. Additionally, diagnosis of the metabolic syndrome was established in 70 (26.1%; 21.0-31.5) obese children. The number of children and adolescents who were diagnosed with the metabolic syndrome was significantly lower according to the EGIR definition, whereas the AACE and REGDODCI definitions identified the highest prevalence.

This data suggests that the REGODCI definition is successful in screening for the metabolic syndrome in lean and obese children and adolescents, providing an opportunity to establish an early diagnosis in the lean population.

M. Rodriguez-Moran, B. Salazar-Vazquez, R. Violante, et al. Metabolic syndrome among children and adolescents aged 10-18 years. Diabetes Care;27:2516-2517 (October, 2004). [Correspondence: Fernando Guerrero-Romero, MD, PhD, FACP, Siqueiros 225 esq./ Castaneda, 34000 Durango, Durango, Mexico. E-mail: guerrero_romero@hotmail.com].

COPYRIGHT 2004 Frost & Sullivan
COPYRIGHT 2004 Gale Group

Return to Bloom syndrome
Home Contact Resources Exchange Links ebay