Polymorphism of Nitric Oxide Synthase 1 Affects the Clinical Phenotypes of Ischemic Stroke in Korean Population

OBJECTIVE: To investigate whether four single nucleotide polymorphisms (SNPs) rs2293054 [Ile734Ile], rs1047735 [His902His], rs2293044 [Val1353Val], rs2682826 (3'UTR) of nitric oxide synthase 1 (NOS1) are associated with the development and clinical phenotypes of ischemic stroke. METHODS: We enrolled 120 ischemic stroke patients and 314 control subjects. Ischemic stroke patients were divided into subgroups according to the scores of the National Institutes of Health Stroke Survey (NIHSS, <6 and ≥6) and Modified Barthel Index (MBI, <60 and ≥60). SNPStats, SNPAnalyzer, and HelixTree programs were used to calculate odds ratios (ORs), 95% confidence intervals (CIs), and p-values. Multiple logistic regression models were performed to analyze genetic data. RESULTS: No SNPs of the NOS1 gene were found to be associated with ischemic stroke. However, in an analysis of clinical phenotypes, we found that rs2293054 was associated with the NIHSS scores of ischemic stroke patients in codominant (p=0.019), dominant (p=0.007), overdominant (p=0.033), and log-additive (p=0.0048) models. Also, rs2682826 revealed a significant association in the recessive model (p=0.034). In allele frequency analysis, we also found that the T alleles of rs2293054 were associated with lower NIHSS scores (p=0.007). Respectively, rs2293054 had a significant association in the MBI scores of ischemic stroke in codominant (p=0.038), dominant (p=0.031), overdominant (p=0.045), and log-additive (p=0.04) models. CONCLUSION: These results suggest that NOS1 may be related to the clinical phenotypes of ischemic stroke in Korean population.

Growth after Hematopoietic Stem Cell Transplantation in Children with Acute Myeloid Leukemia

Previous studies have shown that hematopoietic stem cell transplantation (HSCT) may result in growth impairment. The purpose of this study was to evaluate the growth during 5 yr after HSCT and to determine factors that influence final adult height (FAH). We retrospectively reviewed the medical records of acute myeloid leukemia (AML) patients who received HSCT. Among a total of 37 eligible patients, we selected 24 patients who began puberty at 5 yr after HSCT (Group 1) and 19 patients who reached FAH without relapse (Group 2). In Group 1, with younger age at HSCT, sex, steroid treatment, hypogonadism and hypothyroidism were not significantly associated with growth impairment 5 yr after HSCT. History of radiotherapy (RT) significantly impaired the 5 yr growth after HSCT. Chronic graft-versus-host disease (cGVHD) only temporarily impaired growth after HSCT. In Group 2, with younger age at HSCT, steroid treatment and hypogonadism did not significantly reduce FAH. History of RT significantly reduced FAH. Growth impairment after HSCT may occur in AML patients, but in patients without a history of RT, growth impairment seemed to be temporary and was mitigated by catch-up growth.

Boys with precocious or early puberty: incidence of pathological brain magnetic resonance imaging findings and factors related to newly developed brain lesions

PURPOSE: Brain magnetic resonance imaging (MRI) findings and factors predictive of pathological brain lesions in boys with precocious puberty (PP) or early puberty (EP) were investigated. METHODS: Sixty-one boys with PP or EP who had brain MRI performed were included. PP was classified into the central or peripheral type. Brain MRI findings were categorized into group I (pathological brain lesion known to cause puberty; newly diagnosed [group Ia] or previously diagnosed [group Ib]); group II (brain lesion possibly related to puberty); and group III (incidental or normal findings). Medical history, height, weight, hormone test results, and bone age were reviewed. RESULTS: Brain lesions in groups I and II were detected in 17 of 23 boys (74%) with central PP, 9 of 30 boys (30%) with EP, and 7 of 8 boys (88%) with peripheral PP. All brain lesions in boys with peripheral PP were germ cell tumors (GCT), and 3 lesions developed later during follow-up. Group I showed earlier pubertal onset (P<0.01) and greater bone age advancement (P<0.05) than group III. Group III had lower birth weight and fewer neurological symptoms than "Ia and II" (all P<0.05). CONCLUSION: Earlier onset of puberty, greater bone age advancement, and/or neurological symptoms suggested a greater chance of pathological brain lesions in boys with central PP or EP. All boys with peripheral PP, even those with normal initial MRI findings, should be evaluated for the emergence of GCT during follow-up.

Pheochromocytoma associated with cyanotic congenital heart disease / 소아과

Pheochromocytoma is a rare tumor of childhood, arising from adrenal medullary and chromaffin tissue. Because chronic hypoxia may induce pheochromocytoma, there have been several reports of pheochromocytoma development in cyanotic patients after corrective or palliative cardiac surgery. The variable clinical presentation of pheochromocytoma is obscured by both underlying heart disease and medications. If sudden hypertension, aggravation of a heart condition, or unusual symptoms such as diabetes mellitus develops in a cyanotic patient with congenital heart disease, pheochromocytoma must be ruled out. We report two patients presenting with cyanotic single-ventricle heart disease with pheochromocytoma.

Clinical, endocrinological and radiological courses in patients who was initially diagnosed as idiopathic central diabetes insipidus / 소아과

PURPOSE: Idiopathic central diabetes insipidus (CDI) is defined in CDI patients without definite etiology. Some patients initially diagnosed as idiopathic CDI progressed to organic causes. We reviewed clinical, endocrinological, and radiological courses of 20 patients who was initially diagnosed as idiopathic CDI, to assess the predicting factors for progression to brain tumors. METHODS: We reviewed the medical data and followed up their clinical courses in 20 CDI patients who had no definite organic etiology, such as malformation, tumor, at the time of diagnosis. RESULTS: Our study included 15 males and 5 females. Mean age of CDI diagnosis was 7.83.6 (2.1-14.7) years. Mean follow-up duration was 8.65.1 (1.5-18) years. Six (30%) patients were diagnosed as brain tumor during follow-up. Ten (50%) of 20 patients had growth hormone deficiency. Multiple pituitary hormone deficiencies were found more frequently in brain tumor patients than idiopathic patients (60% vs 7%, P=0.037). Pituitary stalk thickening (PST) and loss of posterior pituitary signal were observed in 9 patients (47%), respectively. The newly development of PST was observed in patients diagnosed as brain tumor. CONCLUSION: About 30% of idiopathic CDI patients progress to organic disease such as germ cell tumor or histiocytosis. If there are multiple anterior pituitary hormone deficiency or newly development of PST, more close and careful follow-up is needed.

Two Cases of Eccrine Poroma / 대한피부과학회지

Eccrine poroma is a fairly common solitary tumor of the eccrine duct cells. In about two thirds of the cases, it is found on the sole or the sides of the foot, occurring next in frequency on the hands and fingers. It has also been observed in many areas of the skin, such as the neck, chest, and nose. We report two cases of eccrine poroma arising on the knee and the scalp respectively.

Two Cases of Eccrine Poroma / 대한피부과학회지

Eccrine poroma is a fairly common solitary tumor of the eccrine duct cells. In about two thirds of the cases, it is found on the sole or the sides of the foot, occurring next in frequency on the hands and fingers. It has also been observed in many areas of the skin, such as the neck, chest, and nose. We report two cases of eccrine poroma arising on the knee and the scalp respectively.

A Study for Prick Test Reactivities to Allergen, Peripheral Blood Eosinophils, and Serum IgE Levels in Patients with Urticaria and Atopic Dermatitis in Chuncheon and the Northern Kangwon Province / 대한피부과학회지

BACKGROUND: Atopic dermatitis and urticaria are relatively common dermatologic diseases and several reports on skin prick test reactivity have been presented in Korea. However, there has not been any report on the skin prick test reactivity of Chuncheon and the Northern Kangwon Province. OBJECTIVE: This study was done for the evaluation of correlation of the skin prick test reactivities, peripheral blood eosinophils, and total serum IgE levels in 143 patients with urticaria and 107 patients with atopic dermatitis in Chuncheon and the Northern Kangwon Province. METHODS: We performed the skin prick test with 85 allergens and the evaluations of peripheral blood eosinophils and total serum IgE levels in 250 patients at the department of dermatology in Chuncheon Sacred Heart Hospital, Hallym University during a 4-Year-Period from Aug. 1995 to Aug. 1999. RESULTS: 1.In the patients with urticaria, the sex ratio of male to female of 143 patients was 1:1.6, and third and sixth decades occupied 39% in male patients, and forth and fifth decades occupied 44% in female patients. In the patients with atopic dermatitis, the sex ratio of male to female of 107 patients was 1:1.1, and third decade occupied 47% in male patients and 42% in female patients. 2.Monthly peak incidence was July in the patients with urticaria(P0.05), and seasonal analysis was statistically insignificant(P>0.05). 3.The positive reactivities to allergens in the patients with urticaria and atopic dermatitis were 60.8% and 69.2%, respectively. 4.In the patients with urticaria, the skin prick test reactivities to allergens were D. farinae(28.7%), D. pteronissnus(25.9%), cultivated maize pollen(18.2%), hay dust(13.3%), threshings(9.1%) in decreasing order, whereas in the patients with atopic dematitis; D. pteronissnus(43.9%), D. farinae(41.9%), ugwort pollen(15.9%), cultivated maize pollen(13.1%), cat fur(12.1%). When our study results were compared with previous reports from other regions in Korea, cultivated maize pollen revealed relatively high positive reactivity in the skin prick test. 5. In the patients with urticaria and atopic dermatitis, increase of peripheral blood eosinophil were encountered in 16.8% and 38.7%, respectively, but statistically significant difference of peripheral blood eosinophil between the prick test-positive group and prick test-negative group was not observed in both patients with urticaria and those with atopic dermatitis. 6. In the patients with urticaria and atopic dermatitis, increase of total serum IgE levels were encountered in 64.2% and 70%, respectively. Statistically significant difference of total serum IgE levels between the prick test-positive group and the prick test-negative group was observed in the patients with urticaria. CONCLUSION: The results of our study were similar to those of reports from other regions in Korea, except for higher reactivity of skin prick test to cultivated maize pollen. The difference of reactivity of skin prick test to cultivated maize pollen between our study and others is thought to be due to the regional characteristic of Chuncheon and the Northern Kangwon Province. But the difference of results between patients with atopic dermatitis and normal persons in Chuncheon and the Northern Kangwon Province is not statistically significant.

A Epidemiological Study of Dermatoses in Soldiers of Kangwon Province / 대한피부과학회지

BACKGROUND: The results of epidemiological studies are different from each other by genetics, social circumstances and cultures etc. There are few reports of statistical study about dermatoses in Korean soldiers, especially in Kangwon province. OBJECTIVE: We performed this study to know the profile of the distribution of dermatoses in Korean soldiers in Kangwon province and to compare it with results of other studies. METHODS: From Jan. 1998 to Dec. 1999, the dermatoses of new patients who visited the outpatient department of dermatology in the Chunchon Armed Forces General Hospital are recorded by rank, age and month. They are analyzed by group of disease and disease itself. RESULTS: The total number of outpatients was 2,827. The proportion of new private was 0.9%; private 22.9%; private first class 30.6%; corporal 29.7% and sergeant 15.9%. The age of patients ranges from 18 to 28 years old; 95.5% were between 20 and 23 years old. The seasonal incidence was greatest in summer, and autumn, spring and winter in the right order. The frequent dermatoses were dermatophytosis, contact dermatitis, scabies, ingrowing nail, urticaria, verruca, tinea versicolor, folliculitis, atopic dermatitis, ecthyma, acne, alopecia areata, nummular eczema, corn, cold injury, paronychia, psoriasis, seborrheic dermatitis, herpes zoster, pityriasis rosea, and insect bite in the right order, respectively above 1% of total number of outpatients. The frequent groups of dermatoses were eczema, diseases resulted from fungi and yeasts, disorders due to animal parasites, viral dermatoses, dermatoses due to physical agents, bacterial infections, drug eruption, erythema and urticaria, diseases of the hair, diseases of the nails, diseases of the glands, papulosquamous diseases, and pruritus and neurocutaneous dermatoses in the right order. CONCLUSION: The distinct feature of the dermatoses in soldiers of Kangwon province is the fact of high frequency in contact dermatitis, folliculitis, verruca, ingrowing nail, ecthyma, corn, cold injury, and paronychia and low frequency of acne, seborrheic dermatitis, and urticaria. The percentage of dermatoses due to physical agents is relatively high and that of drug eruption, erythema and urticaria is relatively low. The proportion of total infectious diseases is 40.4%.

A Case of Clear Cell Acanthoma / 대한피부과학회지

Clear cell acanthoma has been described clinically as a well circumscribed round 1-2cm sized pink to brown colored solitary nodule or plaque. It develops slowly and affects people aged 40-60 years, and the lower legs are the site of predilection. It is composed of clear cells, and reveals hyperkeratosis, parakeratosis, acanthosis, and no granular layer as well as exocytosis and microabscesses of neutrophils. In the dermis, slight increase of microvasculatures and perivascular inflammatory infiltrations exist. There is just one case reported in Korea about it, and we report another case of clear cell acanthoma developed on the lateral side of the right foot of a 65-year-old woman.

A Case of Median Raphe Cyst / 대한피부과학회지

Median raphe cyst is a relatively uncommon lesion occurring in the midline male perineum, especially ventral aspect of penis. It is an embryologic developmental anomaliy of the male genitalia. Histologically, the lining cells are usually pseudostratified columnar epithelium, but can be stratified squamous epithelium and sometimes mucous glands and ciliated cells can be observed within the cyst wall. Herein, we report a case of median raphe cyst in the midline of the scrotum of a 2-year-old boy.

A Case of Median Raphe Cyst / 대한피부과학회지

Median raphe cyst is a relatively uncommon lesion occurring in the midline male perineum, especially ventral aspect of penis. It is an embryologic developmental anomaliy of the male genitalia. Histologically, the lining cells are usually pseudostratified columnar epithelium, but can be stratified squamous epithelium and sometimes mucous glands and ciliated cells can be observed within the cyst wall. Herein, we report a case of median raphe cyst in the midline of the scrotum of a 2-year-old boy.

A Case of Aneurysmal Benign Fibrous Histiocytoma / 대한피부과학회지

Aneurysmal benign fibrous histiocytoma(ABFH) is a relatively rare variant and has a distinctive histopathological features, that is collections of capillaries, foci of hemorrhage, siderophages, and foamy macrophages surrounding cleft-like and cavernous blood filled spaces in the tumor. But, in spite af the distinctive features, it is not infrequently confused with malignant melanoma, angiomatoid malignant fibrous histiocytoma, and vascular tumors such as spindle cell hemangioendothelioma, nodular Kaposi's sarcoma and angiosarcoma. We report a case of ABFH developed on the left upper extremity of a 41-year-old man.