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- Jee, Youn Hee, et al.
(author)
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New developments in the genetic diagnosis of short stature
- 2018
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In: Current opinion in pediatrics. - : Lippincott Williams & Wilkins. - 1040-8703 .- 1531-698X. ; 30:4, s. 541-547
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Research review (peer-reviewed)abstract
- Purpose of review: Genome-wide approaches including genome-wide association studies as well as exome and genome sequencing represent powerful new approaches that have improved our ability to identify genetic causes of human disorders. The purpose of this review is to describe recent advances in the genetic causes of short stature.Recent findings: In addition to SHOX deficiency which is one of the most common causes of isolated short stature, PAPPA2, ACAN, NPPC, NPR2, PTPN11 (and other rasopathies), FBN1, IHH and BMP2 have been identified in isolated growth disorders with or without other mild skeletal findings. In addition, novel genetic causes of syndromic short stature have been discovered, including pathogenic variants in BRCA1, DONSON, AMMECR1, NFIX, SLC25A24, and FN1.Summary: Isolated growth disorders are often monogenic. Specific genetic causes typically have specific biochemical and/or phenotype characteristics which are diagnostically helpful. Identification of additional subjects with a specific genetic cause of short stature often leads to a broadening of the known clinical spectrum for that condition. The identification of novel genetic causes of short stature has provided important insights into the underlying molecular mechanisms of growth failure.
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- Nevéus, Tryggve
(author)
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Diagnosis and management of nocturnal enuresis
- 2009
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In: Current opinion in pediatrics. - 1040-8703 .- 1531-698X. ; 21:2, s. 199-202
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Research review (peer-reviewed)abstract
- PURPOSE OF REVIEW: To highlight recent advances in enuresis research. RECENT FINDINGS: Many discoveries have distanced us from the time when bedwetting was considered a psychiatric disorder. Instead, it is now agreed that nocturnal polyuria, detrusor overactivity, and high arousal thresholds are, in various combinations, central to enuresis pathogenesis. All three mechanisms have been further elucidated during the last year. It has been found that solute diuresis, and not just free-water diuresis due to vasopressin deficiency, may be causative. Sonographical bladder wall measurements have been shown to have prognostic value in detrusor-dependent enuresis, and fascinating proof for the interplay between the bladder and the sleeping brain has been put forward. And, ironically, sleep research has caused psychiatry to make a slight comeback, as studies have indicated that enuretic children may suffer from cognitive problems due to suboptimal sleep. Less has been achieved regarding treatment, but some evidence has finally supported the experience that anticholinergics may be effective in therapy-resistant enuresis. SUMMARY: During the last years, increased insight has been gained into the multifaceted pathogenesis of enuresis, but there is still an irritating lack of proven effective therapies.
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- West, Christina E, et al.
(author)
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Role of diet in the development of immune tolerance in the context of allergic disease
- 2010
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In: Current opinion in pediatrics. - 1040-8703 .- 1531-698X. ; 22:5, s. 635-641
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Journal article (peer-reviewed)abstract
- PURPOSE OF REVIEW: Diet is arguably one of the most significant environmental exposures during early development. Here, we explore the effects of key perinatal dietary exposures on immune development and susceptibility to allergic disease. RECENT FINDINGS: Dietary changes are at the centre of the emerging epigenetic paradigms that underpin the rise in many modern diseases. There is growing evidence that exposures in pregnancy and the early postnatal period can modify gene expression and disease susceptibility. Specific nutrients, including antioxidants, oligosaccharides, polyunsaturated fatty acids, folate and other vitamins, have documented effects on immune function. Some have also been implicated in modified risk of allergic disease in observational studies. Intervention studies are largely limited to trials with polyunsaturated fatty acids and oligosaccharides, showing preliminary but yet unconfirmed benefits in allergy prevention. Avoidance of food allergens in pregnancy, lactation or infancy has provided no clear evidence in allergy prevention and is no longer recommended. Rather there is focus on their role in tolerance induction. SUMMARY: Modern dietary changes are clearly implicated in the rising propensity for inflammatory immune responses. These dietary changes, which appear to be providing less tolerogenic conditions during early immune programming, may provide important avenues for preventing disease.
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- Yu, Shihui, et al.
(author)
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Genomic disorders on chromosome 22
- 2012
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In: Current opinion in pediatrics. - 1040-8703 .- 1531-698X. ; 24:6, s. 665-671
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Journal article (peer-reviewed)abstract
- PURPOSE OF REVIEW:Chromosome 22, the first human chromosome to be completely sequenced, is prone to genomic alterations. Copy-number variants (CNVs) are common because of an enrichment of low-copy repeat sequences that precipitate a high frequency of nonallelic homologous misalignments and unequal recombination during meiosis. Among these is one of the most common multiple anomaly syndromes in humans and the most common microdeletion syndrome, velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome and DiGeorge syndrome. This review will focus on the recent literature dealing with both the molecular and clinical aspects of chromosome 22 genomic variations. Although the literature covering this area is expansive, the majority is descriptive or analytical of the problems presented by these genomic disorders, and there is little evidence of translational research including treatment outcomes.RECENT FINDINGS:With the increased use of microarray analysis in both research and clinical practice, variations in CNVs are becoming elucidated. Genomic analysis continues to characterize genes and gene effect. Research on the COMT gene continues to yield interesting findings, including a possible sex-mediated effect because of its regulatory role with estrogen. There is a small amount of treatment outcome data relevant to neuropsychiatric disorders in VCFS, but based on small samples and short-term follow-up.SUMMARY:Although hundreds of studies in the past year have focused on genomic disorders of chromosome 22, little progress has been made in the implementation of translational research, even for more common disorders including VCFS.
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