A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients.

Solute Carrier Family 12 member 1 (SLC12A1) gene encodes the sodium-potassium-chloride co-transporter (NKCC2) at the apical membrane of the thick ascending loop of Henle (TAL). Bartter's syndrome (BS) type I is a rare, autosomal recessive, renal tubular disorder associated with mutation of the SLC12A1 gene. Presenting features include: hypokalemic metabolic alkalosis, hypercalciuria and nephrocalcinosis.

Assessing shoulder motion in children: age limitations to Mallet and ABC Loops.

Background: Shoulder ROM and function of the shoulder are difficult to evaluate in young children. There has been no determination of the age at which children can comply with the current assessment tools in use, but doing so would be important, because it gives us more accurate insight into the development and assessment of shoulder functional ROM in young children.

Questions/purposes: We (1) determined whether age would limit the use of two different observational scales used to assess shoulder ROM and function in young children (the Mallet scale and the ABC Loops protocol); and (2) compared the two scales in terms of intra- and interobserver reliabilities.

Uninterrupted moderately accelerated radiotherapy in the treatment of unresectable/advanced head and neck cancer: one institution's experience and a comparative review.

Conventional radiotherapy alone in treatment of unresectable or locally advanced head and neck cancer has poor results. To improve outcome without significant increase in acute and late morbidity, we began a moderately accelerated hyperfractionation radiation therapy protocol without breaks for treatment of unresectable/advanced head and neck malignancies. From August 1984 to June 1995, 48 patients with unresectable or advanced carcinoma of the head and neck were treated using a protocol of accelerated hyperfractionation radiation therapy at Kaiser Permanente Medical Center, Los Angeles.

[Transurethral incision of the prostate: an objective and subjective evaluation of long-term efficacy].

The emergence of less invasive therapies has demanded the reassessment of surgical procedures for the treatment of benign prostatic hyperplasia. This study was designed to evaluate the long term efficacy of transurethral incision of the prostate (TUIP) using objective (urodynamic), and subjective (symptom score and assessment of satisfaction) parameters, and investigate sexual function. Forty one men after TUIP (mean age of 63.