We suggest that hypogonadism, GH deficiency, and hypothyroidism could be possible endocrinological defects in patients with CHD7 mutations and that olfactory bulb hypoplasia as well as semicircular canal aplasia should be considered as a major sign for CHARGE syndrome and recommend a computed tomography scan of the temporal bone and magnetic resonance imaging study of the olfactory bulb region.

Polymyositis (PM) and dermatomyositis (DM) are systemic inflammatory disorders affecting skeletal muscles and other organs, and are associated with high morbidity and mortality rates. In this study, we studied the prevalence, clinical features and its comparative outcome of PM/DM, comparing PM and DM. Twenty-three PM/DM patients (9 PM and 14 DM) were included in this study. The complication of interstitial pneumonia (IP) was found in 17 patients (74%). HRCT showed that non-specific interstitial pneumonia pattern was the most common in patterns of lung involvement. Twenty-one patients (91%) with PM/DM received high dose of prednisolone therapy. The percentage of patients who received methylprednisolone (mPSL) pulse and cyclosporin A was higher in DM patients than in PM patients. The percentage of patients who received mPSL pulse and cyclosporin A was higher in later (after Apr 2004) patients than in former (before Mar 2004) patients. Malignant diseases appeared in 3 patients with DM which consisted of breast cancer, epipharyngeal cancer and gastric cancer. We observed 2 deaths in DM patients during the course of therapy; one was due to IP, and the other due to miliary tuberculosis. This study showed that a poorer prognosis was observed in patients with DM when compared with those with PM, and immunosuppressive medications may be implicated at least partially in increased risk of infections and malignancies in PM/DM patients especially DM patients, indicating that patients with PM/DM may require careful monitoring during the clinical course.

The insulin tolerance test (ITT) has been considered the most reliable test in the diagnosis of growth hormone deficiency (GHD), but it is contraindicated in some patients. Recently, the use of GH-Releasing Peptide-2 (GHRP-2) has been validated and reported as a safe and reliable test for the diagnosis of adult severe GHD. We evaluated the GH response to GHRP-2 in 56 children with growth disorders to assess its efficacy. A dose of 2 μg/kg of GHRP-2 was administered intravenously and serum GH concentrations were determined. The Spearman correlation coefficient for GH peak values indicated a favorable correlation with the ITT (P<0.0001). Peak GH concentrations were significantly (p<0.0001) lower in children with (median:3.39 μg/l (ng/ml)) than without (25.10 μg/l (ng/ml)) GHD. In the analysis of sensitivity-specificity curves, the serum concentration at the point where sensitivity crosses specificity was 15 μg/l (ng/ml). The GHRP-2 test was safe and required only one hour or less, and was capable of diagnosing GHD in children. KEY WORDS

Study Objectives: We aimed to investigate whether improvements in the symptoms of circadian rhythm sleep-wake disorder after treatment were associated with an increase in serum insulin-like growth factor-1 (IGF-1) concentration. Methods: Eighty-seven school-aged children (32 males, 55 females), aged 14.31 ± 1.50 years (mean ± standard deviation), who were admitted to our hospital with circadian rhythm sleep-wake disorder received treatment for 6-8 weeks consisting of the following protocol: (1) lights-out for sleep occurred at 21:00, (2) phototherapy for waking started at 06:00 or 07:00, and (3) light exercise was required every day (eg, a 20-to 30-minute walk). Blood samples were collected at 08:00 AM to measure the serum concentrations of IGF-1, pre-and posttreatment. Results: The mean times of day of sleep onset and offset at the pre-and posttreatment timepoints were 23:32 ± 4.21 and 10:27 ± 2.98, and 21:26 ± 0.55 and 06:50 ± 0.70, respectively. The mean times of day of sleep onset and offset measured at the posttreatment timepoint were significantly earlier compared with the pretreatment baselines (P <.01). The mean serum levels of IGF-1 significantly increased from 315.59 ± 68.26 ng/mL at pretreatment to 335.09 ± 69.78 ng/mL at posttreatment (P < .01). Conclusions: Improvements in the symptoms of patients with circadian rhythm sleep-wake disorders were associated with increased serum concentrations of IGF-1, suggesting that serum IGF-1 may be a biomarker of improvements in school-aged children with circadian rhythm sleep-wake disorder.