OBJECTIVES To examine the molecular pathogenetic mechanisms, (epi)genotype-phenotype correlation, and the performance of the three clinical scoring systems-namely Netchine et al, Bartholdi et al, and Birmingham scores-for patients with Silver-Russell syndrome in Hong Kong. METHODS This retrospective case series was conducted at two tertiary genetic clinics, the Clinical Genetic Service, Depar...

Russell-Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry. It is rare to come across tethered cord-associated Russell-Silver syndrome. We report a rare case of Russell-Silver syndrome associated with low conus medullaris in a...

The Meaning in Isolation Thesis features prominently in Russell’s writings on definite descriptions.1 In those writings Russell sets out to defend the view that definite descriptions “never have any meaning in themselves.” (Russell, 1905, pg. 42) He proceeds to say that a definite description “is essentially part of a sentence, and does not, like most single words, have any significance on its ...

Professional secretory cells produce and release abundant proteins. Particularly in case of mutations and/or insufficient chaperoning, these can aggregate and become toxic within or amongst cells. Immunoglobulins (Ig) are no exception. In the extracellular space, certain Ig-L chains form fibrils causing systemic amyloidosis. On the other hand, Ig variants lacking the first constant domain conde...

Introduction: Uncommon features have been observed in the cryptic region near the south polar cap during the spring time retreat of the seasonal cap. The defrosting of the seasonal CO2 cap leads to dalmatian spots named dark spots [1], spiders [2], fans [3] and polygonal crack patterns [4]. (Kieffer, 2007) proposed a semiquantitative model to explain all these processes. The dark spots, fans an...

Features of the Silver-Russell syndrome (SRS) may overlap with other entities characterized by intrauterine growth restriction, making clinical diagnosis often ambiguous. Numerous scoring systems have been continuously modified, based on anthropometric parameters, dysmorphic features and health issues, including growth and gastrointestinal disturbances. Clinical criteria serve for screening pat...

Detailed examination of the balance between star-formation and nuclear activity in AGN and starburst galaxies leads to the composition of an Hertzsprung-Russell diagram in which possible evolutionary tracks can be drawn. It is likely that these tracks also relate to the level of obscuration.