Marie Unna hypotrichosis: an autosomal dominant hair disorder

Hereditary hypotrichosis of Marie Unna type is a rare distinctive syndrome of hair loss which is inherited with an autosomal dominant gene. We report a family with more than half affected individuals in 4 subsequent generations which supports the very strong autosomal dominant pattern of inheritance.     

Thymic cysts in mediastinal Hodgkin disease

Three cases of proved thymic cysts associated with mediastinal Hodgkin disease are presented. Two illustrate regression of lymphoma with chemotherapy but persistence of thymic cysts. The third case demonstrates a thymic cyst in untreated Hodgkin disease. These cases suggest that such cysts are probably neither coincidental with nor a consequence of therapy but are probably related to initial thymic involvement by Hodgkin disease.     

The use of lasers in the pediatric population

Over the past 2 decades, there have been numerous advances in laser therapy of birth-marks in the pediatric population. Concerns regarding efficacy, overall benefit, and side-effects linger. We present our opinion, based upon decades of clinical experience, on the role of lasers to treat port wine stains, superficial hemangiomas, and café au lait macules in children.     

Cryotherapy does not impair shoulder joint position sense

OBJECTIVE: To determine the effects of a cryotherapy treatment on shoulder proprioception. DESIGN: Crossover design with repeated measures. SETTING: University athletic training and sports medicine research laboratory. PARTICIPANTS: Thirty healthy subjects (15 women, 15 men). INTERVENTION: A 30-minute cryotherapy treatment. MAIN OUTCOME MEASURES: Joint position sense was measured in the dominant shoulder by using an inclinometer before and after receiving 30 minutes of either no ice or a 1-kg ice bag application. Skin temperature was measured below the tip of the acromion process and recorded every 5 minutes for the entire 30 minutes and immediately after testing. Three different types of error scores were calculated for data analyses and used to determine proprioception. RESULTS: Separate analyses of absolute, constant, and variable error failed to identify changes in shoulder joint proprioception as a function of the cryotherapy application. CONCLUSIONS: Application of an ice bag to the shoulder does not impair joint position sense. The control of proprioception at the shoulder may be more complex than at other joints in the body. Clinical implications may involve modifying rehabilitation considerations when managing shoulder injuries.     

Reliability of Joint Position Sense and Force-Reproduction Measures During Internal and External Rotation of the Shoulder

OBJECTIVE: To determine the reliability of 2 common measures of proprioception. DESIGN AND SETTING: Joint position sense (JPS) and force reproduction (FR) were measured in the dominant shoulder using internal-rotation (IR) and external-rotation (ER) target angles on 2 consecutive days. SUBJECTS: Thirty-one healthy subjects (age = 22.0 +/- 2.8 years, height = 171.8 +/- 9.2 cm, mass = 69.5 +/- 15.9 kg) who did not regularly compete in overhand sports volunteered to participate in the study. MEASUREMENTS: Error scores were calculated at 2 target angles by averaging the absolute difference of 3 trials of JPS and FR. Reliability was determined by comparing the error scores obtained on 2 consecutive days. RESULTS: The inclinometer was found to be a reliable instrument as both intertester (.999) and intratester (.999) intraclass correlation coefficients were high. The JPS and FR measurements were also found to be reliable, with intraclass correlation coefficients ranging from.978 to.984. No differences were observed between trials for either measure. CONCLUSIONS: The inclinometer was a reliable instrument and can provide an affordable and accurate measure of range of motion and JPS. Both JPS and FR were also reliable measures of proprioception in the shoulder. Further research is needed to identify the specific mechanism of proprioception during these tasks.     

Induction of fetal hemoglobin synthesis in children with sickle cell anemia on low-dose oral sodium phenylbutyrate therapy

This study was designed to determine if low doses of oral sodium phenylbutyrate (SPB) induce hemoglobin F (HbF) synthesis in children with hemoglobin SS (HbSS). We treated 8 children with HbSS over a period of 5-30 weeks. The initial dose (1.0 g/d) was increased weekly (by 1.0 g/d) until F-reticulocytes doubled. All patients showed an increase in F-reticulocytes (P = 0.002) that was dose-dependent (P = 0.001). Three of 5 patients who continued oral SPB for more than 10 weeks had substantial increases in HbF. We conclude that lower dose SPB is effective in inducing HbF synthesis in some children with HbSS. Further trials are warranted to determine the optimal treatment regimen.