PURPOSE:Varying clinical phenotypes are associated with the chromosome 22q11.2 microdeletion syndrome. The endocrine manifestation are latent or overt hypoparathyroidism, thyroid dysfunction and short stature. This study was undertaken to investigate frequencies of endocrine abnormalities and short stature in patients with the chromosome 22q11.2 microdeletion syndrome. METHODS:Forty three unrelated patients were diagnosed having chromosome 22q11.2 microdeletion syndrome. Chromosomal microdeletion was confirmed by fluorescent in situ hybridation (FISH) with DNA probe (22q11.2 LSI TUPLE1 from Vysis). Serum total calcium and intact parathyroid hormone (PTH) were measured in all patients. Thyroid function tests including free thyroxine(T4), thyroid stimulating hormone (TSH) and thyroid autoantibodies were performed in all patients. Insulin-like growth factor-1 (IGF-1) was measured in 10 patients. Height, weight and body mass index were compared with chronological age in all patients. RESULTS:Seven patients (16%) had an overt hypoparathyroidism, presenting with hypocalcemic tetany. Thirteen patients (31%) showing hypocalcemia with normal PTH were regarded as having latent hypoparathyroidism since their PTH secretion response was blunted. Out of 2 patients with thyroid diseases, one patient had Graves disease and the other had Hashimoto thyroiditis. Five patients (12%) were below the 3rd percentile in height at evaluation. The BMI was below the 5th percentile in 23% of patients. CONCLUSION: Twenty patients (47%) presented with overt and latent hypoparathyroidism. Interestingly, autoimmune thyroid diseases such as Graves disease and Hashimoto thyroiditis were associated in patients with chromosome 22q11.2 microdeletion, indicating predisposition to autoimmune disorders. Therefore, a careful endocrine and growth evaluation is needed in these patients.
Autoantibodies ; Body Mass Index ; Calcium ; DNA ; Graves Disease ; Hashimoto Disease ; Humans ; Hypocalcemia ; Hypoparathyroidism ; Parathyroid Hormone ; Phenotype ; Tetany ; Thyroid Diseases ; Thyroid Function Tests ; Thyroid Gland ; Thyrotropin

Erdheim Chester disease (ECD) is very rare non-Langerhans cell histiocytosis (LCH) which occurs in the skeletal system and multiple organs. As it is progressive, sometimes it causes fatal results. However, it is often misdiagnosed as LCH or multiple bone metastasis and, thus, is very difficult to diagnose. In Korea, only 10 cases were first reported in 1999. In particular, there have been a few orthopedic approaches or reports in English-speaking literatures, and no report has been issued in Korea. The authors performed bone biopsy in patients with knee and lower extremity pain who were referred for the integrated treatment. We attempts to report this diagnosis experience with literature review.
Biopsy ; Erdheim-Chester Disease ; Histiocytosis ; Histiocytosis, Langerhans-Cell ; Humans ; Knee ; Korea ; Lower Extremity ; Neoplasm Metastasis ; Orthopedics

No abstract available.
Breast Feeding* ; Breast Neoplasms* ; Breast* ; Case-Control Studies* ; Female ; Humans ; Korea*

PURPOSE: This study was undertaken to determine whether the clinical presentation of patients with central precocius puberty(CPP) varies according to the etiology, whether this permits the differentiation between idiopathic and organic forms and to examine whether LH determination in a single timed blood sample after GnRH administration is sufficient to diagnose CPP. METHODS: This study included 33 girls with signs of breast development, of whom 23 were diagnosed as definite central precocious puberty. Sixteen patients had idiopathic CPP; the remaining 7 patients had organic CPP. Ten patients were classified as non-CPP. Potential clinical and laboratory predictors of CNS abnormalities were assessed and GnRH stimulation test was done. RESULTS: The age of onset in patients with organic CPP was 4.11+/-2.08 years, whereas the age in patients with idiopathic CPP was 7.25+/-1.34 years. This parameter is the only one showing statistical significance. We compared sensitivities and specificities at 0, 15, 30, 60, 90 and 120 min which yielded sensitivities of 8.7%, 87.0%, 91.3%, 87.0%, 73.9%, 60.9%. CONCLUSION: It is impossible to exclude a central nervous system lesion in patient with central precocious puberty without performing central nervous system imaging. However, this study indicates earlier the onset of disease, higher the possibility of presence of CNS lesion. According to the mean GnRH stimulated LH levels and sensitivity at each times, a single blood sample obtained for LH determined after GnRH administration at 30 min can be used to diagnose the central precocious puberty.
Age of Onset ; Breast ; Central Nervous System* ; Female ; Gonadotropin-Releasing Hormone* ; Humans ; Luteinizing Hormone ; Puberty, Precocious*

No abstract available.
Aneurysm*

BACKGROUND: Herpes simplex virus (HSV) is associated with a insignificant skin lesion, keratitis, encephalitis, congenital infection, sexually transmitted disease, or cervix cancer. There are two types of serogroup, HSV-1 and HSV-2. HSV-1 makes the lesion mainly on the above-waist area and HSV-2 makes the lesion mainly on the below-waist area. To diagnose the HSV infection, immunological or cultural methods usually have been used until now. But they are not satisfactory in terms of sensitivity, specificity, and ease of application. Recently the polymerase chain reaction (PCR) was developed. Because of the exponential nature of the amplification, this method can detect extremely small amount of DNA. We compared nested PCR with cultural method for HSV detection. METHODS: We obtained 61 specimens from the lesions of oral mucosa, face, and genital area. Samples were inoculated into the monolayer from the African green monkey kidney cell(Vero). When the slide showed cytopathic effect(CPE), HSV infection was confirmed, After extracting DNA from 61 samples, we amplified HSV DNA using nested PCR with the primers against the gene encoding glycoprotein (gD) of HSV-1 and HSV-2. RESULTS: We found 632 bp band after the 1st PCR round and 271 bp band after the 2nd PCR round with HSV-1 specific primers. HSV-2 revealed 428 bp band after the 1st PCR round and 231 bp band after the 2nd PCR round. Nested PCR showed analytical sensitivity at 10(-9) g of DNA in HSV-1 and 10(-10) g of DNA in HSV-2. Viral culture was positive in 36%, nested PCR detected HSV DNA sequence in 54% of samples. Nested PCR typed HSV, HSV-1 in 67%, HSV-2 in 39%, and mixed type in 6% of PCR-positive samples. All isolates from above-waist area were HSV-1. Seventy seven percent of 13 isolates from below-waist area were HSV-2 and 38% were HSV-1. CONCLUSIONS: Nested PCR offers a rapid, simple, and sensitive test for HSV infections of skin and mucosa.
Base Sequence ; Cercopithecus aethiops ; DNA ; Encephalitis ; Glycoproteins ; Herpes Simplex* ; Herpesvirus 1, Human ; Herpesvirus 2, Human ; Keratitis ; Kidney ; Mouth Mucosa ; Mucous Membrane ; Polymerase Chain Reaction* ; Sensitivity and Specificity ; Sexually Transmitted Diseases ; Simplexvirus* ; Skin ; Uterine Cervical Neoplasms

BACKGROUND: Herpes simplex virus (HSV) is associated with a insignificant skin lesion, keratitis, encephalitis, congenital infection, sexually transmitted disease, or cervix cancer. There are two types of serogroup, HSV-1 and HSV-2. HSV-1 makes the lesion mainly on the above-waist area and HSV-2 makes the lesion mainly on the below-waist area. To diagnose the HSV infection, immunological or cultural methods usually have been used until now. But they are not satisfactory in terms of sensitivity, specificity, and ease of application. Recently the polymerase chain reaction (PCR) was developed. Because of the exponential nature of the amplification, this method can detect extremely small amount of DNA. We compared nested PCR with cultural method for HSV detection. METHODS: We obtained 61 specimens from the lesions of oral mucosa, face, and genital area. Samples were inoculated into the monolayer from the African green monkey kidney cell(Vero). When the slide showed cytopathic effect(CPE), HSV infection was confirmed, After extracting DNA from 61 samples, we amplified HSV DNA using nested PCR with the primers against the gene encoding glycoprotein (gD) of HSV-1 and HSV-2. RESULTS: We found 632 bp band after the 1st PCR round and 271 bp band after the 2nd PCR round with HSV-1 specific primers. HSV-2 revealed 428 bp band after the 1st PCR round and 231 bp band after the 2nd PCR round. Nested PCR showed analytical sensitivity at 10(-9) g of DNA in HSV-1 and 10(-10) g of DNA in HSV-2. Viral culture was positive in 36%, nested PCR detected HSV DNA sequence in 54% of samples. Nested PCR typed HSV, HSV-1 in 67%, HSV-2 in 39%, and mixed type in 6% of PCR-positive samples. All isolates from above-waist area were HSV-1. Seventy seven percent of 13 isolates from below-waist area were HSV-2 and 38% were HSV-1. CONCLUSIONS: Nested PCR offers a rapid, simple, and sensitive test for HSV infections of skin and mucosa.
Base Sequence ; Cercopithecus aethiops ; DNA ; Encephalitis ; Glycoproteins ; Herpes Simplex* ; Herpesvirus 1, Human ; Herpesvirus 2, Human ; Keratitis ; Kidney ; Mouth Mucosa ; Mucous Membrane ; Polymerase Chain Reaction* ; Sensitivity and Specificity ; Sexually Transmitted Diseases ; Simplexvirus* ; Skin ; Uterine Cervical Neoplasms

No abstract available.
Congenital Abnormalities* ; Osteotomy*

Cri-du-chat syndrome is a rare genetic disorder in which the patient presents with a characteristic high-pitched monotonous cry and recurrent aspiration pneumonia, attributed to abnormalities in the larynx, epiglottis, and nervous system. The most prominent brain MRI findings are the presence of pontine and cerebellar hypoplasia, which primarily involve posterior cranial fossa structures. Although atrophy of supratentorial structures were also a common radiological finding, it was considered to be a secondary change due to pontine hypoplasia. Here, we present the case of a three-month-old patient presenting with cri-du-chat at our institution. The patient also showed the presence of prominent pontine hypoplasia similar to previously reported cases; however, contrary to other cases, there was a general delayed myelination of brain instead of decreased myelination of anterior limb of internal capsule. Since the larynx, pons, and cerebellum all originated from similar notochord level, which suggests anomaly in early stage of development, laryngeal, and brain anomaly characteristically observed in the cridu- chat syndrome.

Fentanyl intoxication has occasionally been reported since fentanyl patches became available for medical use. Delayed post-hypoxic leukoencephalopathy is a complication of hypoxia. However, its neuropsychiatric symptoms can be delayed, and it can progress to leukoencephalopathy even after full recovery from coma due to acute intoxication. Herein, we report a case of fentanyl intoxication in a 65-year-old man who was presented to the hospital because of unconsciousness for 13 hours after using ten fentanyl patches simultaneously. Initial brain CT findings were non-specific. Twenty days later, delayed neuropathologic symptoms manifested, and MRI showed bilaterally symmetrical, heterogeneous, confluent high signal intensities on T2-weighted/fluid attenuated inversion recovery MRI in the cerebral white matter with diffusion restriction. This was followed by rapid exacerbation of neuropathological symptoms with diffuse severe cerebral atrophy over 1 year.