Metabolic dysfunction in Russell‐Silver syndrome

Cazgan, A. L.; Parano, Enrico; Pavone, Lorenzo; Vivo, Darryl C. De

doi:10.1007/bf00711627

Cited by 4 publications

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“…A literature search was performed, and a number of case reports and reviews of RSS cases showed a small number of reports of GI complications within the studies [Cazgan, 1994;Wollman et al, 1995]. Other studies have identified feeding difficulties in patients with RSS when compared to normal children [Blissett et al, 2000[Blissett et al, , 2001.…”

Section: Introductionmentioning

confidence: 98%

“…As this patient's course of management was followed, it was questioned whether this was an isolated case of GI complications in RSS or whether there were other patients with RSS who had experienced similar dysfunction. A literature search was performed, and a number of case reports and reviews of RSS cases showed a small number of reports of GI complications within the studies [Cazgan, 1994;Wollman et al, 1995]. Other studies have identified feeding difficulties in patients with RSS when compared to normal children [Blissett et al, 2000[Blissett et al, , 2001.…”

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confidence: 99%

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Gastrointestinal complications of Russell‐Silver syndrome: A pilot study

Anderson¹,

Viskochil

O’Gorman

et al. 2002

Am. J. Med. Genet.

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Russell-Silver syndrome (RSS) is a genetic syndrome with clinical manifestations of intrauterine and postnatal growth retardation, normal head circumference, body asymmetry, and distinctive facial appearance. We followed an infant diagnosed with RSS who had occurrence of multiple gastrointestinal complications. Although there are a number of published reports describing gastrointestinal problems associated with RSS, specific gastrointestinal diseases have not been recognized as major features. We hypothesize that gastrointestinal complications may be more frequent in RSS cases than previously reported. To address our hypothesis, we developed a pilot study of RSS cases to identify and characterize associated gastrointestinal complications. Surveys were distributed by MAGIC, a support group for individuals with RSS. Surveys included information on the objective and subjective characteristics used to diagnose RSS, as well as descriptions of gastrointestinal problems. Completed surveys were returned on 135 individuals. We used strict diagnostic guidelines to determine affected status of children reported in our survey. Of the 135 surveys completed, 65 were determined to have clear-cut RSS. The diagnoses were made without knowledge of the gastrointestinal symptoms of any of the subjects. Of the 65 subjects with "clear cut" RSS, 50 (77%) had gastrointestinal symptoms. Major specific symptoms included gastroesophageal reflux disease (34%), esophagitis (25%), food aversion (32%), and failure to thrive (63%). A common theme in gastrointestinal complications of RSS is significant gastroesophageal reflux that includes esophagitis and food aversion. Results of this survey suggest that there is an association of gastrointestinal complications with RSS that should be addressed in diagnosis as well as management protocols for children with this condition.

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Section: Introductionmentioning

confidence: 98%

mentioning

confidence: 99%

Gastrointestinal complications of Russell‐Silver syndrome: A pilot study

Anderson¹,

Viskochil

O’Gorman

et al. 2002

Am. J. Med. Genet.

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“…There are other characteristic features that have not been adequately described, including feeding difficulties, sweating and hypoglycaemia. Clinical observations suggest that hypoglycaemia may be common in children with RSS " 6 . The incidence of chronic hypoglycaemia, especially nocturnal hypoglycaemia, has not been satisfactorily assessed in young children with RSS.…”

Section: Introductionmentioning

confidence: 98%

Hypoglycaemia and Russell-Silver Syndrome

Azcona¹,

Stanhope²

2005

Journal of Pediatric Endocrinology and Metabolism

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“…As this patient's course of management was followed, it was questioned whether this was an isolated case of GI complications in RSS or whether there were other patients with RSS who had experienced similar dysfunction. A literature search was performed, and a number of case reports and reviews of RSS cases showed a small number of reports of GI complications within the studies [Cazgan, 1994; Wollman et al, 1995]. Other studies have identified feeding difficulties in patients with RSS when compared to normal children [Blissett et al, 2000, 2001].…”

Section: Introductionmentioning

confidence: 99%

Conformational properties of macromolecules of heterocyclic polyester imides in dilute dichloroacetic acid solutions

Андреева

Bushin

Цветков

et al. 2003

J Polym Sci B Polym Phys

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Several series of polyester imides (PEIs) were prepared by melt polycondensation of trimellitimidobenzoic acid and acetylated, substituted hydroquinones as well as by solution polycondensation of corresponding dichlorides with hydroquinones. The influence of either phenyl‐ or tert‐butyl substituents at the hydroquinone unit on the hydrodynamic (diffusion and viscometry) and optical [flow (FB) and electrical (EB) birefringence] properties of solutions of these PEIs were investigated. Independent methods for quantitative evaluation of the length of the statistical Kuhn segment A gave values of 14.5 nm (translational friction and electrical birefringence) and 12.0 nm (flow birefringence), respectively. The equilibrium rigidity of PEIs with phenyl and tert‐butyl lateral substituents at the para‐aromatic chain fragment was comparable. Conformational properties of the PEIs were analyzed, and the conjugation energies of the ester and amide groups for para‐aromatic polyesters, PEIs, and structurally similar polyamidobenzoxazoles and polyamidobenzimidazoles were compared. The introduction of the phthalimide ring leads to a decrease of conjugation energy and deviation of the ester group from coplanarity. The Kuhn segment values obtained were useful for calculations of phase diagrams of semiflexible segmented block copolymers. © 2003 Wiley Periodicals, Inc. J Polym Sci Part B: Polym Phys 42: 12–24, 2004

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Metabolic dysfunction in Russell‐Silver syndrome

Cited by 4 publications

References 4 publications

Gastrointestinal complications of Russell‐Silver syndrome: A pilot study

Gastrointestinal complications of Russell‐Silver syndrome: A pilot study

Hypoglycaemia and Russell-Silver Syndrome

Conformational properties of macromolecules of heterocyclic polyester imides in dilute dichloroacetic acid solutions

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