One last nail in the MAPLEs coffin.

Colorectal Cancer: The Last Nail in the Coffin for Androgen Deprivation Therapy for Prostate Cancer?

Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report

INTRODUCTION We report the case of an unusual association of Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome. This association has never previously been reported in the medical literature. CASE PRESENTATION A nine-year-old Indian girl was referred to our hospital for growth retardation, mental retardation, lax joints, generalized hypertrichosis, and hypoplastic fifth finger...

The Coffin-Siris syndrome.

We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficu...

Frequency of nail involvement in patients referred to the skin clinic of Sina Hospital in Hamadan in April 1999 to April 2000

Background: The nails of hands and feet are involved in the course of many dermatoses and some systemic diseases. They may have diagnostic or prognostic value in some diseases. Objective: The aim of this study was to evaluate nail lesions in patients referred to Dermatology Department of Sina Hospital in Hamadan from April 1999 to April 2000. Patients and Methods: This cross-sectional des...

How do synonymous mutations affect fitness?

While it has often been assumed that, in humans, synonymous mutations would have no effect on fitness, let alone cause disease, this position has been questioned over the last decade. There is now considerable evidence that such mutations can, for example, disrupt splicing and interfere with miRNA binding. Two recent publications suggest involvement of additional mechanisms: modification of pro...