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 ...

Genotype × environmental interaction (GEI) is an important consideration in plant breeding programs because it reduces the progress from selection in any one environment (Hill, 1975). Significant GEI results from the changes in the magnitude of differences between genotypes in different environments or changes in the relative ranking of the genotypes. Consistent performances across different si...

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...