Structural and functional results of indirect diode laser treatment for retinopathy of prematurity from 1999 to 2003 in Kuwait.

Purpose: The purpose was to report the structural, visual, and refractive outcomes of infants treated for retinopathy of prematurity (ROP) with laser and to identify the risk factors for unfavorable outcomes.

Materials And Methods: The charts of infants with severe ROP treated by diode laser in a tertiary center during the period April 1999 to November 2003 were reviewed. Treated infants were followed up for fundus examination, visual acuity assessment, and cycloplegic refraction.

The patient-doctor relationship.

In this essay I speak about the need to put the patient first when discussing the relationship between the patient and the doctor. From my own experience of having been a cancer patient, I argue that most patients appreciate and feel empowered by knowledge about their illness if this knowledge is given sensitively. I also try to explain why doctors need to recognise and respond sensitively to the patient's need to be healed, psychologically, as well, especially in cases of serious or chronic illnesses.

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.

Congenital chloride diarrhea (CLD) is an autosomal recessive disorder characterized by defective intestinal electrolyte absorption, resulting in voluminous osmotic diarrhea with high chloride content. A variety of mutations in the solute carrier family 26, member 3 gene (SLC26A3, previously known as CLD or DRA) are responsible for the disease. Since the identification of the SLC26A3 gene and the determination of its genomic structure, altogether three founder and 17 private mutations have been characterized within miscellaneous ethnic groups.

Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.

Congenital chloride diarrhea (CLD) is an inherited intestinal disorder caused by mutations in the down-regulated in adenoma gene. In Finland, the disease is prevalent because of a founder effect, and all but one of the CLD-associated chromosomes carry the same mutation, V317del. In Poland, another area with a high incidence of CLD, as many as seven different mutations have been detected so far.

Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family.

We report on the first known Bedouin family with Greig cephalopolysyndactyly syndrome (MIM 175700). The index patient and his father shared pre- and postaxial polysyndactyly, mild mental retardation, and corpus callosum dysgenesis. Their phenotypic findings were compared with reported cases of both Greig cephalopolysyndactyly (GCPS) and acrocallosal syndromes.