Cystic fibrosis in a female adolescent carrying c.263T>G (p.Leu88X) and c.2977G>T (p.Asp993Tyr) mutation

Cystic fibrosis (CF) is a chronic progressive autosomal recessive disease and caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. CFTR gene encodes an ion channel involved in salt and water transport in multiple organs including lung, pancreas and reproductive tract. To date, more than 2,000 mutations of CFTR gene have been identified. Because the age of onset and the severity of symptoms may vary greatly, a diagnosis of CF can be challenging. Although CF is common in Caucasians, it is extremely rare in Koreans. A few cases of CF have been reported in Korean children since 1988. Here, we report a 13-year-old girl carrying c.263T>G (p.Leu88X) and c.2977G>T (p.Asp993Tyr). Furthermore, we reviewed 22 Korean cystic fibrosis cases reported in the literature.

Imbalance of Gut Streptococcus, Clostridium, and Akkermansia Determines the Natural Course of Atopic Dermatitis in Infant

PURPOSE: The roles of gut microbiota on the natural course of atopic dermatitis (AD) are not yet fully understood. We investigated whether the composition and function of gut microbiota and short-chain fatty acids (SCFAs) at 6 months of age could affect the natural course of AD up to 24 months in early childhood.METHODS: Fecal samples from 132 infants were analyzed using pyrosequencing, including 84 healthy controls, 22 transient AD and 26 persistent AD subjects from the Cohort for Childhood Origin of Asthma and Allergic Diseases (COCOA) birth cohort. The functional profile of the gut microbiome was analyzed by whole-metagenome sequencing. SCFAs were measured using gas chromatography-mass spectrometry.RESULTS: Low levels of Streptococcus and high amounts of Akkermansia were evident in transient AD cases, and low Clostridium, Akkermansia and high Streptococcus were found in children with persistent AD. The relative abundance of Streptococcus positively correlated with scoring of AD (SCORAD) score, whereas that of Clostridium negatively correlated with SCORAD score. The persistent AD group showed decreased gut microbial functional genes related to oxidative phosphorylation compared with healthy controls. Butyrate and valerate levels were lower in transient AD infants compared with healthy and persistent AD infants.CONCLUSIONS: Compositions, functions and metabolites of the early gut microbiome are related to natural courses of AD in infants.

Serum vitamin D status in children and adolescence with diabetes according to season and age

PURPOSE: It is known that children with diabetes have more severe vitamin D deficiency than healthy children. This study aimed to investigate serum vitamin D status and analyze the relationships between serum vitamin D levels and clinical parameters in children with diabetes. METHODS: We checked serum vitamin D levels of children with diabetes aged below 18 years who were treated at our Department of Pediatrics between December 2011 and February 2012 (winter) as well as between June 2012 and August 2012 (summer). We retrospectively analyzed relationships between their serum vitamin D levels and clinical parameters. RESULTS: The serum 25-hydroxyvitamin D level in children with diabetes during winter was markedly lower than during summer (10.8+/-5.1 ng/mL vs. 17.6+/-5.6 ng/mL); vitamin D deficiency was more prevalent during winter (95% vs. 62%). However, there was no difference between children with diabetes and healthy children. In children with type I diabetes mellitus, among all the clinical parameters, age had the greatest negative correlation with serum vitamin D level. CONCLUSION: In children with diabetes, serum vitamin D levels showed marked seasonal variation. However, no clear relationship was identified between vitamin D deficiency and diabetes. This was because the control group had an equally high vitamin D deficiency rate. Additional studies including other clinical parameters after vitamin D supplementation in children with diabetes should be considered.

The Clinical Outcomes in Children with Status Epilepticus: a Single Centered, Comparative Study during the Period between 1990s and 2000s / 대한소아신경학회지

PURPOSE: Status epilepticus(SE) is one of the most common neurologic emergencies in children, which might result in significant morbidity and mortality. The aim of this study was to evaluate the changes of etiology and prognosis, clinical outcomes in children with status epilepticus during the period between the 1990s and 2000s at a single institution. METHODS: We retrospectively reviewed and analyzed the records of two groups (group A and B) of children with SE at the Department of Pediatrics of our institution. Group A consisted of 98 children aged between 2 months and 15 years and admitted from January, 1992 to December, 1998. Group B consisted of 79 children at the same age and admitted from November, 2008 to July, 2011. We compared age distribution, etiology, duration, abnormality of EEG and Brain CT/MRI, and neurologic complications between the two groups. RESULTS: Compared with group A, the mortality rate of SE in group B improved from 7.1% to 1.3%. Neurological complication rates also improved from 21.4% (group A) to 18.3% (group B). Duration of SE decreased from 71.4+/-82.6 minutes (group A) to 42.0+/-53.8 minutes (group B). Etiologies of SE between two periods were not significantly different, but the duration of SE decreased, and mortality and neurologic outcomes improved (P<0.001). The duration of SE was significantly correlated with neurologic complications (R2=0.214, P<0.001). CONCLUSION: This study showed decreased mortality and neurologic complication rates in SE over the last decade. The Decrease of mortality and neurologic complication rates may be due to the decreased duration of SE and more immediate visit of patients to the hospital than in the past.

A Case of Unusual Visceral Heterotaxy Syndrome with Isolated Levocardia

Situs inversus of the abdominal organs in the presence of normally placed heart on the left side of the thorax is known as situs inversus with isolated levocardia. This rare condition is commonly associated with severe congenital defects of the heart. We report a case of situs inversus with levocardia in a 19-year-old asymptomatic male patient with completely normal heart on the left chest. Spiral computed tomography of the thorax and abdomen and echocardiographic studies revealed situs inversus of abdominal organs, normal heart (levocardia), mirrored left lungs, a midline liver, a left-sided inferior vena cava connecting to the right atrium, multiple splenic masses in the abdominal right upper quadrant, and aneurysmal dilatation of a splenic artery.

Extremely Increased Serum Carbohydrate Antigen 19-9 Levels Caused by New or Resistant Infections to Previous Antibiotics in Chronic Lung Diseases / 결핵및호흡기질환

In this paper, we describe 72-year-old female patient without evidence of malignant disease presented with significantly elevated serum carbohydrate antigen (CA) 19-9 levels by respiratory infections. She was diagnosed with respiratory infections due to Mycobacterium avium complex and Pseudomonas aeruginosa. The serum CA 19-9 levels remarkably increased (1,453-5,300 U/mL; reference range, <37 U/mL) by respiratory infection and abruptly decreased (357-534 U/mL) whenever infection was controlled by specific treatments. This case suggests that serum CA 19-9 levels may be used as a diagnostic marker to indicate new or resistant infections to previous antibiotics in chronic lung diseases without significant changes in chest X-ray findings.

High Frequency of Genetic Alterations in Non-small Cell Lung Cancer Detected by Multi-target Fluorescence In Situ Hybridization

Detection of genetic alterations could provide a tool as an adjuvant for the diagnosis of non-small cell lung cancer (NSCLC) and to define patients at risk for early relapse. In this study, a multi-target fluorescence in situ hybridization (FISH) assay was conducted to investigate the correlation between the alterations of chromosomes, including 5p15.2, 6p11.1-q11, 7p12, and 8q24.12-q24.13 (LaVysion Test), and clinicopathological variables, and to clarify the potential of the multi-target FISH assay in 37 NSCLC. The most notable finding was the higher frequency of a gain in chromosome 5p15.2 in early-stage (I+IIa) lung cancers. The frequency of the gain was 81.3% (16/22) in stage I tumors. The frequencies of gains in 6p11.1-q11 and 8q24.12-q24.13 were 61.5% (8/13) and 84.6% (11/13) in stage IIIa cancers, as compared with lower frequencies in stage I tumors at 25.0% and 31.3%, respectively. There was also a significant difference in the histological type. Our results suggest that a gain in 6p11.1-q11 and 8q24.12-q24.13 plays an important role in tumor progression and is associated with histological differentiation. On the other hand, gene amplification in the 5p region was one of the most consistent alterations in early-stage lung cancer, and thus a series of genes in the critical 5p15.2 region might potentially associated with the development of lung cancer.

The soft tissue profile in a normal Korean adult female group / 체질인류학회지

No abstract available.

The Effects of a Small dose of Scopolamine on the Heart Rate in the Halothane Anesthetized and Comstose Patient / 대한마취과학회지

It is well known that small dose of belladonna alkaloid(atropine, scopolarnine) has the effect of decreasing the heart rate in normal conscious subjects, but the mechanism involved in it remains still unanswered. Based on various lines of evidence, the most likely mechanism seems to be the blockade of sympathetic ganglion caused by the alkaloids and it is possible that the effect on the slower heart rate may differ in the depressed state of the sympathetic ganglion when under halothane anesthesia. The present study was undertaken, therefore, on comatose patients and halothane anesthetized patients with and without atropine premedication about 1 hour before anesthesia to observe the effect of a small dose of scopolamine(0.1 mg) which affects the heart rate more significantly than atropine in conscious subjects. The results were as follows: 1) In the comatose patients, scopolamine(0.1 mg) produced a significant decrease in heart rate. 2) During halothane anesthesia without atropine premedication, scopolamine produced a slight decrease in heart rate. 3) During halothane anesthesia with atropine premedication, scopolamine produced a significant increase in the heart rate. These results indicate that scopolamine can further affect the sympathetic ganglion already depressed by halothane, and it is suggested that scopolamine is more effective in blocking the sympathetic ganglion than halothane.