Body changes in adolescent patients with growth hormone receptor deficiency receiving recombinant human insulin-like growth factor I and luteinizing hormone-releasing hormone analogue: preliminary results

Auxological and body composition changes were studied in three adolescent patients (2 female, 1 male) with growth hormone receptor deficiency (GHRD) given insulin-like growth factor I (IGF-I), 120 μg/kg s.c. twice daily, plus a monthly intramuscular injection of 7.5 mg of a luteinizing hormone-releasing hormone (LHRH) analogue. Preliminary results from the first 12 months of the study show that height velocity was increased compared with the pretreatment values. This increase was probably due to the IGF-I therapy, as the LHRH analogue would have suppressed gonadotrophins and gonadal steroid production. There was a reduction in percentage body fat, and increases in lean mass and the leamfat ratio, whole body mineral content and body calcium content, even when expressed per kg body weight. There was also a trend towards increased bone mineral density of the whole skeleton, lumbar spine and femoral structures, as well as a maturation of facial features. These preliminary results indicate that concomitant therapy with IGF-I and an LHRH analogue is safe and efficacious in inducing growth without advancing bone age in patients with GHRD.     

Interventional radiology‐operated percutaneous cholecystoscopy with ultrasonic lithotripsy and stone basket retrieval: A treatment for symptomatic cholelithiasis in non‐operative candidates

Interventional radiology‐operated percutaneous endoscopy has seen a recent resurgence with potential to return to the scope of Interventional Radiology practice. Endoscopy adds a new dimension to the Interventional Radiology armamentarium by offering a unique opportunity to diagnose and treat conditions under direct visualization with improved maneuverability. Cholecystoscopy (gallbladder endoscopy), as a method for percutaneous removal of gallstones, is an effective treatment option in patients with symptomatic cholelithiasis who are poor candidates for surgical cholecystectomy. This article presents a case of Interventional Radiology‐operated cholecystoscopy using ultrasonic lithotripsy and stone basket retrieval with an emphasis on the equipment, technique, and peri‐procedural management essential to the procedure, as well as a review of the literature.     

Carrier detection in X-linked retinitis pigmentosa

X-linked retinitis pigmentosa (XLRP) is manifested in affected males in their first decade and results in blindness by the third or fourth decade. Carrier detection is difficult since most carrier females show no or only equivocal signs well into or beyond their reproductive years. The genes, or the mutations causing RP have not been identified but at least two have been localised to the short arm of the X chromosome provisionally named RP2 and RP3. Identifying inheritance of one or other of these genes must be done by linkage in families using close, informative DNA markers. Here we report the localisation of a highly informative polymerase chain reaction (PCR) detectable microsatellite marker DXS538 using a previously studied family with X-linked RP3 in which recombination had occurred in the region of importance. The DXS538 dinucleotide repeat locus was previously localised to Xp21.1-p11.21 to study RP3 in one XLRP family. Using published RFLP data we narrowed the localisation of DXS538 to the region Xp21.1 - p11.23. Thus DXS538 is now a convenient diagnostic tool, aiding carrier detection of XLRP in females, as shown in the family presented here.