Is Respirator Lung a Distinct Syndrome?

Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?

To the Editor : Kabuki syndrome (OMIM 147920), also known as Niikawa–Kuroki syndrome (NKS), is characterized by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, mental retardation, and growth deficiency (1, 2). Recently, mutations in the MLL2 gene were identified as the genetic cause of NKS (3). Hardikar syndrome (HS; OMIM 612726) is a multiple congenital anomalies...

Is “Basal-like” Carcinoma of the Breast a Distinct Clinicopathologic Entity? A Critical Review with Cautionary Notes

This review deals with studies that have used cDNA microarrays and immunohistochemistry to identify a subtype of breast carcinoma recently known as “basal-like” carcinoma. The key breast carcinoma studies are critically discussed to highlight methodological problems in cohort selection, definitions, interpretation of results, an...

Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.

In 1972, Fried described a large Scottish family affected by X linked mental retardation (XLMR), hydrocephalus, and mild facial dysmorphism. The phenotype has considerable similarity to the MASA syndrome, which results from mutations of the L1CAM gene in Xq28, and this family has since been assumed to be an example of this condition. We have reinvestigated the family for linkage to X chromosome...

The first few hours off a respirator.

Is Leukocyte Telomere Length Related with Lung Cancer Risk?: A Meta-Analysis

Background: Epidemiological studies have probed the correlation between telomere length and the risk of lung cancer, but their findings are inconsistent in this regard.  The present meta-analysis study has been carried out to demonstrate the association between relative telomere length in peripheral blood leukocytes and the risk of lung cancer using an established Q-PCR technique. Methods:...