A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea

Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown to have salt wasting and hyperpigmentation on the skin during the neonatal period and require intensive medical care. In addition, it is usually associated with hypogonadotropic hypogonadism in adolescence. The DAX1 gene is expressed in the adrenal cortex, pituitary gland, hypothalamus, testis, and ovary. We report on a patient with genetically confirmed AHC whose initial clinical presentations were consistent with congenital adrenal hyperplasia. A point mutation in the DAX1 gene identified in this report resulted in a truncated DAX1 protein. Our patient was diagnosed with AHC.

Rhamnogalacturonan II is a Toll-like receptor 4 agonist that inhibits tumor growth by activating dendritic cell-mediated CD8+ T cells

We evaluated the effectiveness of rhamnogalacturonan II (RG-II)-stimulated bone marrow-derived dendritic cells (BMDCs) vaccination on the induction of antitumor immunity in a mouse lymphoma model using EG7-lymphoma cells expressing ovalbumin (OVA). BMDCs treated with RG-II had an activated phenotype. RG-II induced interleukin (IL)-12, IL-1beta, tumor necrosis factor-alpha (TNF-alpha) and interferon-gamma (IFN-gamma) production during dendritic cell (DC) maturation. BMDCs stimulated with RG-II facilitate the proliferation of CD8+ T cells. Using BMDCs from the mice deficient in Toll-like receptors (TLRs), we revealed that RG-II activity is dependent on TLR4. RG-II showed a preventive effect of immunization with OVA-pulsed BMDCs against EG7 lymphoma. These results suggested that RG-II expedites the DC-based immune response through the TLR4 signaling pathway.

Speech and Endoscopic Characteristics of Occult Submucous Cleft Palate / 대한이비인후과학회지

BACKGROUND AND OBJECTIVES: Since occult submucous cleft is a defect in the velum that is not apparent on the oral side, it is not infrequently misdiagnosed and an appropriate therapy is often delayed. We aimed to evaluate the speech characteristics and nasopharyngeal endoscopic findings in patients with occult submucous cleft to provide aid to timely diagnosis. SUBJECTS AND METHOD: We reviewed medical records of 10 Korean occult submucous cleft patients who did not present classic stigma of submucous cleft. Their age ranged 3.6 to 63 years. All subjects received perceptual resonance/articulation evaluation, nasometry and nasopharyngoscopy by a speech pathologist and a laryngologist. RESULTS: Eight patients presented with apparent hypernasal speech and their nasalance scores were significantly higher than reference values. Five had compensatory articulation errors: glottal stop for velar plosives, tense alveolar fricatives and/or palatal affricatives. Two patients had only a weak oral consonants and the other produced nasal cognates for their plosives. Nasopharyngeal endoscopic evaluation revealed an overt central groove, slight notch or flattening in the area of the velar eminence. Incomplete velopharyngeal closure with central gap was observed in most of the patients except in two who had a complete velopharyngeal or velo-adenoidal sealing. CONCLUSION: Marked hypernasality and frequent association with compensatory articulation errors warrant a suspicion and vigilant evaluation to find out occult submucous cleft. To provide an appropriate and timely therapy for patients with occult submucous cleft, thorough perceptual, acoustic and endoscopic evaluation is mandatory for the patients with hypernasality.

Effects of P/S Ratio of Fatty Acids and Antioxidants Supplement on Serum Lipids Levels and Hepatic Antioxidants Enzyme Activities in Rats

The aim of this study was to investigate the effects of P/S ratio of fatty acid and antioxidant (vitamin E, selenium) supplements on the serum lipid levels and hepatic antioxidant enzyme activity in rats. Female 16-week-old Sprague-Dawley rats were fed 6 different experimental diets for 4 weeks. While the peroxidizability index (PI) levels of fatty acids in the experimental diets were fixed at 81.22, the levels of P/S ratio of fatty acids were formulated at 0.38, 1.00, 4.81 (LP, MP, HP). These diets were supplemented with vitamin E (1,000 mg/kg diet) and selenium (2.5 mg/kg diet) (LP-S, MP-S, HP-S). This study showed that the serum concentrations of total-cholesterol and HDL-C increased with the increasing of the P/S ratio in the diet (p<0.05). Antioxidant supplementation significantly lowered the concentrations of triglyceride (TG) and VLDL-C of serum (p<0.05). Levels of thiobarbituric acid reactive substance (TBARS) in the liver tended to decrease with the increasing of the P/S ratio in the diet (p<0.001), but antioxidant enzyme activity in the liver was not significantly different. In addition, antioxidant supplementation significantly lowered TBARS level in the liver (p<0.05), but had no effect on antioxidant enzyme activity except for glutathione reductase (p<0.05). In conclusion, it is necessary to consider the properties of dietary fatty acids and antioxidants supplementation for the prevention of cardiovascular diseases.

Ictal Hyperperfusion of Brain Structures Related to Ictal Dystonic Posturing in Temporal Lobe Seizures

BACKGROUND: Although dystonic posturing (DP) during temporal lobe seizures is known to be related to basal ganglia activation, the mechanism of the dystonic posturing has not been investigated in greater details . METHODS: Thirty-two patients with mesial temporal lobe epilepsy (TLE) underwent ictal and interictal SPECTs. They were classified into two groups: 1) DP with ictal dystonia during ictal SPECT (N=15) and 2) Non-DP without dystonia (N=17). Ictal-interictal SPECT subtraction was performed as follows: co-registration, intensity normalization, subtraction, thresholding and then an overlay to SPGR MRI. The presence and intensity of ictal hyperperfusion were determined in frontal lobe, basal ganglia, temporal lobe and insular cortex. RESULTS: The incidences of ictal hyperperfusion in DP vs. Non-DP were caudate nucleus [80.0%(12/15 patients) vs. 0% (0/17), p=0.001], putamen [93.3% (14/15) vs. 48.2% (8/17), p=0.005], globus pallidus [53.3% (8/15) vs. 23.5% (4/17), p=0.082], thalamus [80.0% (12/15) vs. 41.2% (7/17), p=0.026], insular cortex [46.7% (7/15) vs.23.5% (4/17), p=0.051], orbitofrontal [46.7% (6/15) vs. 35.3% (7/17), p=0.053], medial frontal [6.7% (1/15) vs. 18.7% (2/17), p=0.621], dorsolateral frontal [13.3% (2/15) vs. 18.7%(2/17), p=0.737] in the hemisphere of epileptic side. In patients who showed ictal hyperperfusion in striatum and thalamus, the average intensity of hyperperfusion in DP vs. Non-DP was caudate nucleus 1.67 vs. 0.0, putamen 2.20 vs. 1.05, globus pallidus 1.2 vs. 0.65, thalamus 2.00 vs. 0.88 in the epileptic hemisphere. CONCLUSIONS: Caudate nucleus as well as putamen appeared to be important for producing ictal dystonia during TLE seizures. The greater intensity of ictal hyperperfusion in putamen, caudate nucleus and thalamus seems to be related to ictal dystonia.

Ictal Hyperperfusion of Brain Structures Related to Ictal Dystonic Posturing in Temporal Lobe Seizures

BACKGROUND: Although dystonic posturing (DP) during temporal lobe seizures is known to be related to basal ganglia activation, the mechanism of the dystonic posturing has not been investigated in greater details . METHODS: Thirty-two patients with mesial temporal lobe epilepsy (TLE) underwent ictal and interictal SPECTs. They were classified into two groups: 1) DP with ictal dystonia during ictal SPECT (N=15) and 2) Non-DP without dystonia (N=17). Ictal-interictal SPECT subtraction was performed as follows: co-registration, intensity normalization, subtraction, thresholding and then an overlay to SPGR MRI. The presence and intensity of ictal hyperperfusion were determined in frontal lobe, basal ganglia, temporal lobe and insular cortex. RESULTS: The incidences of ictal hyperperfusion in DP vs. Non-DP were caudate nucleus [80.0%(12/15 patients) vs. 0% (0/17), p=0.001], putamen [93.3% (14/15) vs. 48.2% (8/17), p=0.005], globus pallidus [53.3% (8/15) vs. 23.5% (4/17), p=0.082], thalamus [80.0% (12/15) vs. 41.2% (7/17), p=0.026], insular cortex [46.7% (7/15) vs.23.5% (4/17), p=0.051], orbitofrontal [46.7% (6/15) vs. 35.3% (7/17), p=0.053], medial frontal [6.7% (1/15) vs. 18.7% (2/17), p=0.621], dorsolateral frontal [13.3% (2/15) vs. 18.7%(2/17), p=0.737] in the hemisphere of epileptic side. In patients who showed ictal hyperperfusion in striatum and thalamus, the average intensity of hyperperfusion in DP vs. Non-DP was caudate nucleus 1.67 vs. 0.0, putamen 2.20 vs. 1.05, globus pallidus 1.2 vs. 0.65, thalamus 2.00 vs. 0.88 in the epileptic hemisphere. CONCLUSIONS: Caudate nucleus as well as putamen appeared to be important for producing ictal dystonia during TLE seizures. The greater intensity of ictal hyperperfusion in putamen, caudate nucleus and thalamus seems to be related to ictal dystonia.

Clinical Studies of Metabolic Bone Disease of Prematurity

PURPOSE: Preterm formula used in Korea, theoretically does not supply the recommended mineral intake for optimal bone metabolism in very low birth weight infants(Formula 500-700 mg Ca/L, 300~370mg P/L, and 440IU of vitamin D/L). The purpose of this study is to identify th e possible etiologic factors and clinical course of rickets in these infants. METHODS: We recently identified radiographic rickets or osteopenia in 16 VLBW infants over a 30-month period from January 1990, to July 1992. We performed a retrospective case analysis to evaluate the clinical features, nutritional status, biochemical and radiological findings o f metabolic disease in preterm infants. RESULTS: Mean gestational age and birth weight were 29+/-2.1wks, and 1172+/-245gm. All infants received parenteral nutrition and 11 infants needed assisted ventilation. Enteral feeding w as started at a mean age of 9.4+/-11.0d and mean total calorie intakes were 62+/-16.2kcal/kg /d in the first 2wks and 111+/-26.9kcal/kg/d at 2-4 wks of age. Oral Ca/P intakes were severely restricted during the first month of life, and they were about 20% of recommended intakes of Ca /P for VLBW infants. At diagnosis of active rickets, serum Ca was high in 19% and serum P wa s low in 69% of infants. Serum alkaline phosphatase was increased in 56% and serum 25-hydroxyvitamin D was low in 67%. Active rickets was diagnosed at mean age of 38+/-14.7 d; 12 infants had overt rickets(grade 2), including 3 infants with fractures(grade 3). Healing rickets was diagnosed on follow-up at mean age of 67.3+/-22.0 days. Thus, metabolic bone disease of VLB W infants was associated with low mineral intakes compared to recommended intakes, and signs of P deficiency occurred at about 2 wks of age and persisted to 8 wks of age; hypercalcemia occurred initially, and these biochemical abnormalities precede the radiological abnormalities about 2 or 3 weeks. CONCLUSIONS: Many factors are related to the development of metabolic hone disease of prematurity; one of the most important factor in our study was nutritional deficiency, especially m ineral(phosphorus) and vitamin D. In preterm VLBW infants whose adequate enteral feeding is restricted, mineral(calcium and phosphorus) and vitamin D supplementation would be needed t o reduce the development of metabolic bone disease in preterm infants.