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עמוד בית
Thu, 21.11.24

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March 2014
Kineret Mazor-Aronovitch, Danny Lotan, Dalit Modan-Moses, Akiva Fradkin and Orit Pinhas-Ham
Background: The prevalence of obesity in children and adolescents has increased dramatically in the last few decades. Primary hypertension, a known secondary complication among obese adults, has been considered rare in children.

Objectives: To investigate the prevalence of hypertension and its relation to body mass index (BMI) in obese children aged 9–17 years in Israel.

Methods: Weight, height, BMI, and systolic and diastolic blood pressure (BP) (twice) were measured in children attending general and pediatric endocrine clinics. Obesity was defined as BMI ≥ 95th percentile and overweight as BMI ≥ 85th percentile. Pre-hypertension and hypertension were defined as systolic and/or diastolic BP ≥ 90th percentile for age, gender and height and BP ≥ 95th percentile respectively. In children with pre-hypertension or hypertension, repeated measurements were performed.

Results: We evaluated 264 children of whom 152 had BMI ≥ 85th percentile (study group). Their mean age was 12.5 years. The prevalence of elevated BP (both pre-hypertension and hypertension) in the study group was 44.1% and 31% at the first and second measurements respectively, compared to 11.6% and 1.9% in the normal-weight group. Hypertension was documented in 17.2% of the study group at the second measurement.

Conclusions: Elevated BP was diagnosed in 31% of overweight and obese children and adolescents. Increased awareness and early diagnosis and treatment are essential.

July 2007
D.Lotan, G.Yoskovitz, L.Bisceglia, L.Gerad, H.Reznik-Wolf and E.Pras

Background: Cystinuria is an autosomal recessive disease that is manifested by kidney stones   and is caused by mutations in two genes: SLC3A1 on chromosome 2p and SLC7A9 on chromosome 19q. Urinary cystine levels in obligate carriers are often, but not always, helpful in identifying the causative gene.

Objectives: To characterize the clinical features and analyze the genetic basis of cystinuria in an inbred Moslem Arab Israeli family.

Methods: Family members were evaluated for urinary cystine and amino acid levels. DNA was initially analyzed with polymorphic markers close to the two genes and SLC7A9 was fully sequenced.

Results: Full segregation was found with the marker close to SLC7A9. Sequencing of this gene revealed a missense mutation, P482L, in the homozygous state in all three affected sibs.

Conclusions: A combination of urinary cystine levels in obligate carriers, segregation analysis with polymorphic markers, and sequencing can save time and resources in the search for cystinuria mutations.
 

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