Chediak-Higashi syndrome is a rare autosomal recessive disease characterized by partial oculocutaneous albinism, photophobia, nystagmus, immunodeficiency with increased susceptibility to bacterial and viral infection. We experienced a 2-year old boy who presents photophobia, hypopigmentation of retinal pigment epithelium, partial cutaneous albinism, systemic findings including recurrent fever and respiratory infection, hepatosplenomegaly and pathognomic giant cytoplasmic granules in peripheral blood cells and bone marrow, and diagnosed it as a Chediak-Higashi syndrome. We present our experience of Chediak-Higashi syndrome with brief review of the literatures related to it.
Albinism, Oculocutaneous ; Blood Cells ; Bone Marrow ; Chediak-Higashi Syndrome* ; Child, Preschool ; Cytoplasmic Granules ; Fever ; Humans ; Hypopigmentation ; Male ; Photophobia ; Piebaldism ; Retinal Pigment Epithelium

We analyzed the result of the tests about HBs Ag, HCv Ag, HIV Ag and VDRL in the blood of the donor and evaluated sex and age distribution, cause of death of the donor, which were obtained from Central Eye Bank at St. Mary's Hospital from January 1, 1993 to December 31, 1994. 1. Hepatitis B surface Ag in the blood was positive in 13 donors(4.80%) and Hepatitis C Ag was in 4 donors(1.48%). 2. VDRL test in the blood was positive in 11 donors(4.06%) and HIV Ag was in 1 donor(0.37%). 3. In sex and age distribution, 128 donors(47.23%) were male and 3 donors(52.77%) were from 71 to 80 years was the major group of donors(67 donors: 24.72%). 4. The most common cause of death was respiratory disease(94 donors: 34.69%) and then tumor(76 donors: 28.04%), circulatory disease(66 donors: 24.35%), metabolic disease (19 donors: 7.01%), infection(9 donors: 3.32%) and trauma(7 donors: 2.58%).
Age Distribution ; Cause of Death ; Eye Banks ; Hepatitis B ; Hepatitis C ; HIV ; Humans ; Male ; Metabolic Diseases ; Tissue Donors*

PURPOSE: This survey was intended to investigate the awareness and application of the asthma guideline among pediatricians. Insight into the feasibility in the guidelines can guide implementation strategies in the future and, if necessary, support the revision of the previous guideline. METHODS: This self-administered survey study was conducted with the data on 10 items of questionnaire about knowledge and implementation of Korean childhood asthma guideline. The data was analyzed using SPSS WINDOW 8.0. RESULTS: A total of 141 doctors out of 500 participants in the pediatric refresh course responded the questionnaire. Ninety-five percent of the responders were aware of guideline, but differences were found between the asthma management policies in the guideline and their habitual practice patterns. As far as the prescription of inhaled corticosteroid, approximately half of the responders followed the guideline. For peak flowmeter use, 57% of the responders never prescribed peak flowmeter and only 5% of the responders used peak flowmeter frequently. The barriers pediatricians face when applying the guideline in the practice were habitual management pattern, time limitation, low compliance, lack of knowledge and economic burden. CONCLUSION: The guideline for diagnosis and management of childhood asthma seemed to be recognized widely, however, the role of the guideline to change pediatricians habitual practice was limited. These data clearly indicate a need for further educational programs directed to both physicians and patients. Finally the development of more practical evidence- based guideline is needed
Asthma* ; Compliance ; Diagnosis* ; Flowmeters ; Humans ; Prescriptions ; Surveys and Questionnaires

In order to compare the visual outcome and amount of surgically induced outcome between 3.1mm clear corneal incision group and 6.0mm scleral tunnel incision group in sutureless cataract surgery, 55 eyes(44 patients) were evaluated retrospectively. Clear corneal incision group and scleral tunnel incision group was consisted of 35 eyes and 20 eyes respectively and all patients were followed up by 2months postoperatively. Twenty two eyes(65%) from clear corneal incision group and 14 eyes(70%) from scleral tunnel incision group showed the uncorrected visual acuity of 20/40 or better at postoperative first day. As measurement of surgically induced astigmatism corneal topography using CVK(computerized videokeratography) was applied. The corneal flattening was significantly more prominent at the distances of 0.75, 1.5, and 2.5mm along the 90-degree meridian at one week postoperatively in clear corneal incision group than scleral tunnel incision(p<0.05). But these changes decreased and became not statisticlly significant at eight weeks(p>0.05). The change of surgically induced astigmatism between one day and eight weeks was within the range of one diopter in both groups. There was moderate corneal edema along the incisional meridian at one week and recovered to preoperative levet at four weeks postoperatively in clear corneal incisional group. Conclusively, clear corneal incision in catarad surgery showed early visual rehabilitation and small surgical astigmatism such like scleral tunnel incision.
Astigmatism ; Cataract* ; Corneal Edema ; Corneal Topography ; Humans ; Rehabilitation ; Retrospective Studies ; Visual Acuity

BACKGROUND AND OBJECTIVES: A stellate ganglion block (SGB) induces vasodilatation in the head, neck, and upper extremities. Based on this principle, SGB has been widely used as one of the treatment modalities in sudden idiopathic sensorineural hearing loss (S-SNHL). However, until now, published data establishing the statistical significance of the effect of SGB has been slim. We conducted this study to find out the effect of SGB in the treatment of idiopathic S-SNHL and to find out the factors influencing the prognosis of the disease. MATERIALS AND METHODS: We reviewed the records of 221 patients seen in the past eight years between 1990 to 1997 who had an initial diagnosis of idiopathic S-SNHL and was admitted for treatment. One hundred twenty patients were treated with SGB and the other 101 patients were treated without SGB to use as a control group. RESULTS: The therapeutic result of SGB group was better than that of the control group. Especially, statistical difference was found in the following two subgroups; one in which the interval between the onset of disease and the initiation of treatment was from 8 to 28 days, and the other when the initial hearing loss was below 90 dB. CONCLUSION: We suggest that this study could be utilized as a standard of clinical treatment when SGB is performed.
Diagnosis ; Head ; Hearing Loss ; Hearing Loss, Sensorineural* ; Humans ; Neck ; Prognosis ; Stellate Ganglion* ; Upper Extremity ; Vasodilation

Metastatic malignant tumors involving the thyroid gland are not as unusual as was once believed. They may in fact be more common than primary cancer of the thyroid, especially if careful screening is performed at autopsy. The origins of primary neoplasms that metasta size to the thyoid are myriad, but reports obviously indicate predminantly cancers of the kidney, breast, and lung and malignant melanoma. Occasienally, metastatic lesions from several gastrointestinal neoplasms such as colo-retal and esophageal carcinoma are seen, but metastasis from gastric cancer is very rare. We have seen one case of thyroid cancer metastasized from the stomach cancer. It simultaneously spread to the breast also and confirmed with gastrofiberscopic biopsy, fine needle aspiration cytology of the thyroid and excisonal biopsy of the breast. We report this case with reriew of literature.
Autopsy ; Biopsy ; Biopsy, Fine-Needle ; Breast* ; Gastrointestinal Neoplasms ; Kidney ; Lung ; Mass Screening ; Melanoma ; Neoplasm Metastasis* ; Stomach Neoplasms* ; Thyroid Gland* ; Thyroid Neoplasms

OBJECTIVE: To determine the type and frequency of medication taken by breast-feeding women and to evaluate the effects of maternal anxiety related to medication during lactation on the breast-feeding rate. METHODS: From April 15 to May 15 2003, we conducted a survey with a prepared questionnaire on ninety-one mothers who visited the obstetric clinics of Samsung Cheil hospital at eight weeks after delivery. The questionnaire contained information about parity, mode of delivery, whether to feed breast-milk, and the type and frequency of medicinal exposure. We also asked the degree of perceived adverse effects on her baby associated with maternal medication using 10cm visual analogue scale. RESULTS: The mean age of respondents was thirty-one years and the mean number of children born to the respondents was 1.3. At the eighth week after delivery the breast-feeding rate was 65.9%. The breast-feeding rate was not related to maternal age or the number of children but rather, the mode of delivery, which was 76.9% in NSVD, 70.0% in vaginal delivery with labor induction and 50% in cesarean delivery(P<0.05). The frequency of maternal medication intake during lactation was 50%. The most frequent type of medicine was herb medicine (36.7%). The average score of perceived adverse effect on a respondent's baby during breast-feeding was about 49% in total, which was 46.5% in NSVD, 48.9% in vaginal delivery with labor induction, and 51.2% in cesarean delivery. CONCLUSION: Most nursing mothers think that their medications during lactation affect adversely their babies, who, in turn, may be associated with the decrease of breast-feeding rate.
Anxiety* ; Breast Feeding* ; Breast* ; Child ; Surveys and Questionnaires ; Female ; Humans ; Lactation* ; Maternal Age ; Mothers ; Nursing ; Parity

We report the rare case of an adult who was diagnosed with recurrent multisystem Langerhans cell histiocytosis (LCH) involving the pituitary stalk and lung who present with central diabetes insipidus and was successfully treated with systemic steroids and chemotherapy. A 49-year-old man visited our hospital due to symptoms of polydipsia and polyuria that started 1 month prior. Two years prior to presentation, he underwent excision of right 6th and 7th rib lesions for the osteolytic lesion and chest pain, which were later confirmed to be LCH on pathology. After admission, the water deprivation test was done and the result indicated that he had central diabetes insipidus. Sella magnetic resonance imaging showed a mass on the pituitary stalk with loss of normal bright spot at the posterior lobe of the pituitary. Multiple patchy infiltrations were detected in both lung fields by computed tomography (CT). He was diagnosed with recurrent LCH and was subsequently treated with inhaled desmopressin, systemic steroids, vinblastine, and mercaptopurine. The pituitary mass disappeared after two months and both lungs were clear on chest CT after 11 months. Although clinical remission in multisystem LCH in adults is reportedly rare, our case of adult-onset multisystem LCH was treated successfully with systemic chemotherapy using prednisolone, vinblastine, and 6-mercaptopurine, which was well tolerated.
6-Mercaptopurine ; Adult* ; Chest Pain ; Deamino Arginine Vasopressin ; Diabetes Insipidus ; Diabetes Insipidus, Neurogenic* ; Drug Therapy* ; Histiocytosis, Langerhans-Cell* ; Humans ; Lung ; Magnetic Resonance Imaging ; Middle Aged ; Pathology ; Pituitary Gland ; Polydipsia ; Polyuria ; Prednisolone ; Ribs ; Steroids ; Tomography, X-Ray Computed ; Vinblastine ; Water Deprivation

PURPOSE: This study assessed the feasibility and compliance of induction chemotherapy with gemcitabine and cisplatin followed by simultaneous integrated boost–intensity modulated radiotherapy (SIB-IMRT) with concurrent gemcitabine in patients with locally advanced unresectable pancreatic cancer. MATERIALS AND METHODS: In this trial, patients received induction chemotherapy consisting of gemcitabine (1,000 mg/m²) and cisplatin (25 mg/m²) on days 1, 8, and 15 of each treatment cycle. Patients were subsequently treated with gemcitabine (300 mg/m²/wk) during SIB-IMRT. The patients received total doses of 55 and 44 Gy in 22 fractions to planning target volume 1 and 2, respectively. As an ancillary study, digital polymerase chain reaction was performed to screen for the seven most common mutations in codons 12 and 13 of the KRAS oncogene of circulating cell free DNA (cfDNA). RESULTS: Forty-four patients were enrolled between 2012 and 2015. Of these, 33 (75%) completed the treatment. The most common toxicities during induction chemotherapy were grades 3 and 4 neutropenia (18.2%), grade 3 nausea (6.8%) and vomiting (6.8%). The most common toxicities during SIB-IMRT were grade 3 neutropenia (24.2%) and grade 3 anemia (12.1%). Ten patients (23%) underwent a curative resection after therapy. Median overall survival was significantly longer in patients who underwent curative resection (16.8 months vs. 11 months, p < 0.01). The median cfDNA concentration was significantly lower after treatment (108.5 ng/mL vs. 18.4 ng/mL, p < 0.001). CONCLUSION: Induction chemotherapy with gemcitabine and cisplatin followed by concurrent SIB-IMRT was well tolerated and active.
Anemia ; Cisplatin* ; Codon ; Compliance ; DNA ; Feasibility Studies* ; Humans ; Induction Chemotherapy* ; Nausea ; Neutropenia ; Oncogenes ; Pancreatic Neoplasms* ; Polymerase Chain Reaction ; Radiotherapy* ; Vomiting

PURPOSE: The adipocyte-derived cytokine leptin plays a major role in the control of stable body weight by suppressing food intake and increasing energy metabolism. Leptin regulates the cell proliferation of various epithelial cells and it may be involved in the promotion of cancer. Leptin and its receptor are highly expressed in gastric adenocarcinoma, but the association between the serum leptin level and the tissue expression of leptin is uncertain. We evaluated the serum leptin level and the expressions of leptin and leptin receptor in gastric cancer, and we explore the possible mechanism and role of leptin in the carcinogenesis of gastric cancer. MATERIALS AND METHODS: 72 carcinomas that were curatively resected at our hospital from October 2005 to March 2007 were included in this study. By immunoassay and immunohistochemical staining, we evaluated the serum leptin level and the expressions of leptin and its receptor, and we analyzed their relationship together with the clinicopathological variables. RESULTS: The serum leptin level was increased as the patient's BMI increased and it was decreased in H. pylori infected patients. The expression of leptin was increased as the TNM stage increased (P=0.014), and the expression of leptin receptor in the intestinal type gastric adenocarcinoma was higher than that in the diffuse type gastric adenocarcinoma (71.4% vs 28.6%, respectively, P=0.033). CONCLUSION: There was no significant correlation between the serum leptin level and expression of leptin in gastric cancer patients. The expression of leptin was associated with the TNM stage, but its role in the pathogenesis of gastric cancer has to be elucidated.
Adenocarcinoma ; Body Weight ; Cell Proliferation ; Eating ; Energy Metabolism ; Epithelial Cells ; Humans ; Immunoassay ; Leptin ; Receptors, Leptin ; Stomach ; Stomach Neoplasms