Haddad Syndrome with 27 Polyalanine Repeats in PHOX2B Gene in a Korean Infant / 대한주산의학회잡지

Haddad syndrome is an extremely rare disorder which combines congenital central hypoventilation syndrome (CCHS) and Hirschsprung's disease. Several reports have demonstrated that CCHS was related to mutation of the PHOX2B gene. We report here a newborn male infant with apnea and bowel obstruction. He has been diagnosed with combined congenital central hypoventilation syndrome and Hirschsprung's disease, and had 27 polyalanine repeats in the PHOX2B gene. Two cases of Haddad syndrome with identified PHOX2B gene mutation have been recently reported in Korea. Both of them had extended alleles containing 26 polyalanine repeats. It is known that increased number of polyalanine repeat mutations is associated with a more severe clinical phenotype. The baby reported here had 27 alanine repeats (i.e. one more than the previously reported cases in Korea) and ganglion cells could be found only in the distal 70 cm of his small bowel.

Hematologic Characteristics of Intrauterine Growth Restricted Small for Gestational Age Infants

PURPOSE: Intrauterine growth retardation (IUGR) is the term used to designate a fetus that has not reached its growth potential. However it is difficult to make a distinction between infants who are constitutionally small and growth restricted small. In the present study, we focused on the clinical characteristics and the hematologic value in small for gestational age (SGA) infants and discussed how to distinguish intrauterine growth restricted infants from constitutionally small infants. METHODS: SGA infants that did not have any other risk factors for IUGR in the medical record except maternal hypertension (HTN) and diabetes mellitus (DM) and born at the Seoul St Mary's Hospital and Yeouido St Mary's Hospital from January 2007 to July 2010 were included. The frequency of IUGR is higher in the pregnancy with medical problem, and in preterm infants. Therefore, the data was categorized by maternal disease and gestational age. We assessed the clinical data and the hematologic value. RESULTS: The leukocyte count and the platelet count were lower in the SGA with maternal HTN group and the preterm SGA group. There was no difference in the clinical data and the prognosis resulted from maternal HTN and maternal DM. However, the hematologic difference was not found in the categorization of the preterm SGA group as maternal diasease. CONCLUSION: The results of this study showed that it is possible the low leukocyte count and the low platelet count are the characteristic hematologic features in growth restricted small for gestational age infants.

The Prevalence of Metabolic Syndrome in Inpatients with Schizophrenia

OBJECTIVES: The objective of this study is to assess the prevalence and risk factors of metabolic syndrome (MS) among inpatients with schizophrenia, and to compare with general population. METHODS: Nine hundreds seventy inpatients were included to assess the prevalence of MS from two mental hospitals in Yong-in city. Assessment of MS was performed based on modified American Heart Association criteria with abdominal obesity threshold of 90cm for men, 85cm for women. Comparative analysis was performed using age- and gender matched sample from Korea Health and Nutritional Examination Survey III. For evaluating risk factors, analysis included 766 inpatients taking consistent medications at least for 30 days. RESULTS: The prevalence of MS of inpatients with schizophrenia was 26.2%, in females it was 33.2%, compared to 20.2% in males(p < 0.001). Compared to general population, the prevalence of MS was significantly lower in male and higher in female patients. In terms of criteria prevalence, who met abdominal circumference criterion were more prevalent in patient group(p < 0.001). After multivariate analysis, female gender and old age remained as risk factors of MS. CONCLUSIONS: The prevalence of MS of inpatients with schizophrenia was 26.2% and significantly low compared to general population. Female gender and old age were risk factors of MS.

A Prospective Randomized Open Trial of Nasal Irrigation and Nasal Decongestant for Sinusitis in Children / 소아알레르기및호흡기학회지

PURPOSE: The management of sinusitis in children is controversial. Antibiotic is known as the most essential management. Despite nasal irrigation and nasal decongestant have been used as adjunctive treatments of sinusitis, it is still unclear whether these are effective on sinusitis. Therefore, we used antibiotics with either nasal irrigation and an oral nasal decongestant and tried to estimate the outcome of each case. METHODS: This study was conducted with sinusitis patients who visited our pediatric respiratory disease clinic. They were randomized into 4 groups: Group 1 were treated with a high dose of amoxicillin only; Group 2 were treated with nasal irrigation and a high dose of amoxicillin; Group 3 were treated with a nasal decongestant and a high dose of amoxicillin; and Group 4 were treated with nasal irrigation, a oral nasal decongestant, and a high dose of amoxicillin. Responses to treatment were estimated more than 4 days after the beginning of the therapy in acute or subacute sinusitis, and more than 7 days chronic sinusitis. RESULTS: The responses to the treatments the 4 groups were not comparable. A favorable therapy was not found, regardless of whether a patient had suppurative rhinorrhea, nasal stuffness, typical findings of PNS plain radiograph, or adenoid hypertrophy. CONCLUSION: The use of nasal irrigation or a oral nasal decongestant as an additional therapy to antibiotics for the symptoms of pediatric sinusitis showed no additional effects on sinusitis.

Clinical Pathway for Childhood Asthma in an Emergency Department: Comparison Between the Correct Versus Incorrect Application Groups / 소아알레르기및호흡기학회지

PURPOSE: This study aimed to determine whether the standard clinical pathway based on evidence is applicable to pediatric asthma patients in the emergency room, and whether it is better for treatment effectiveness. METHODS: The clinical pathway was applied to children who visited our emergency room due to acute asthma between January 1 and December 31, 2009. Medical records of the emergency room were reviewed to see if the clinical pathway was correctly applied. The patients were divided into 2 groups: those who the pathway was correctly applied and those who the pathway was incorrectly applied to (group B, n=41). RESULTS: Acute asthma exacerbation occurred in 24 children (47%) in group A, while it occurred in 27 children (53%) in group B. The majority of patients in group B had moderate asthma exacerbation. The incorrect application of the clinical pathway and no use or insufficient use of inhaled anticholinergics was most frequently noted. The most common cause for the incorrect application of the clinical pathway was its misunderstanding of residents. The hospitalization rate was higher in group B than in group A. CONCLUSION: The application of the clinical pathway to pediatric asthma patients in the emergency room increased treatment effectiveness. However, training for the residents and intensive care for the patient with moderate asthma exacerbation are necessary for correct application of the clinical pathway.

Prevalence and Risk Factors of Polydipsia and Water Intoxication in Psychiatric Inpatients

OBJECTIVES: The aims of this study are to estimate the prevalence of polydipsia and water intoxication and to identify risk factors of polydipsia and water intoxication in psychiatric inpatient. METHODS: 1,108 Psychiatric inpatients at 2 mental hospitals in Yongin city were studied from September, 2008 to January, 2009. We diagnosed'polydipsia' using staff reports(fluid intake>3L/day) or by specific gravity of urine(SPGU4%). We attempted to identify clinical characteristics of patients by reviewing their medical records. RESULTS: Two hundred forty seven patients(22.3%) were polydipsic. Sixty eight patients(6.1%) were at risk for water intoxication. The factors associated with polydipsia were lithium, smoking, younger age and increased smoking amounts. The factors associated with risk for water intoxication were valproic acid and polydipsia. CONCLUSION: Polydipsia and water intoxication in psychiatric inpatients are not rare conditions. Therefore, clinicians' attention should be paid to these conditions.