The hereditary multiple osteochondromatosis is a hereditary disorder characterized by gradual development of numerous osteocartilagenous masses from the metaphyseal region of long bones. The abnormality is transmitted as an autosomal dominant trait and its etiology is unknown but many theories of pathogenesis have been advanced. Four members of a family with hereditary multiple osteochondromatosis who are much shorter in height are presented with a brief review of literatures.
Exostoses, Multiple Hereditary ; Humans

Growing skull fracture is a rare complication of injury during infancy and childhood. About 90% of them occur in childhood under the age of 3 years. Growing skull fracture or leptomeningeal cyst was known to be formed through the bony erosion of fractured site by cerebrospinal fluid pulsation of the leptomeninges, impacted into the fractured bone by trauma. Most growing skull fractures are located in the parietal region. A growing fracture commonly presents as a progressive, often pulsatile, scalp mass that appears several months to years after head injury sustained during infancy or early childhood. The authors report a case of acute growing skull fracture in 4-year-old male patient, which developed 3 weeks after fall down injury.
Arachnoid Cysts ; Cerebrospinal Fluid ; Child, Preschool ; Craniocerebral Trauma ; Humans ; Male ; Rabeprazole ; Scalp ; Skull Fractures* ; Skull*

Benign Schwannoma rarely involves the vertebral bodies extensively. Despite of huge amount of neoplastic mass and severe destructive bony changes, the neurologic deficits could not be discovered. The authors discussed the findings of plain X-rays, cervical CT, MRI, pathology as well as surgical procedure, and reviewed the literatures.
Magnetic Resonance Imaging ; Neurilemmoma* ; Neurologic Manifestations ; Pathology

Food-dependent exercise-induced anaphylaxis(FDEIAn), first reported in 1979, is a rare condition characterized by acute cutaneous, gastrointestinal, cardiovascular, and respiratory symptoms occurring on exertion after certain meals. This article describes 3 patients who developed urticaria, dizziness, abdominal pain, and loss of consciousness if the ingestion of wheat flour-food was followed by exercise within 2 hours. But either exercise or wheat intake alone did not induce any symptoms. Skin prick test showed strong positive responses to wheat flour and bread in all patients. We could diagnose FDEIAn with specific food-exercise challenges.
Abdominal Pain ; Anaphylaxis* ; Bread ; Dizziness ; Eating ; Flour ; Humans ; Meals ; Skin ; Triticum ; Unconsciousness ; Urticaria

Carcinoembryonic antigen (CEA) has been studied in the field of gynecologic malignancy to determine whether it can be used as a tumor marker for early detection of recurrence or evaluation of therapeutic results. From January 1985 through December 1989, a total of 239 cervical cancer patients were entered for an analysis of plasma CEA level in the group with cervical cancer compared to the control group consisting of 65 normal healthy women and 18 women with benign gynecologic disease. Plasma CEA levels appear to be directly related with the tumor extension and as stages advance, the incidence of patients with abnormal plasma CEA levels is increased. Also, there seems to be a little higher incidence of abnormal CEA levels in patients with adenocarcinomas or adenosquamous carcinoma but not statistically significant because of small number of patients. When the patients developed recurrence, plasma CEA levels are markedly elevated in the majority, particularly in patients with hepatic metastases. In conclusion, serial plasma CEA checks could be used to detect recurrence during follow-up after treatment of cervical cancer.
Adenocarcinoma ; Carcinoembryonic Antigen ; Carcinoma, Adenosquamous ; Female ; Follow-Up Studies* ; Genital Diseases, Female ; Humans ; Incidence ; Neoplasm Metastasis ; Plasma* ; Recurrence ; Uterine Cervical Neoplasms

Neurocutaneous melanosis is a rare congenital phacomatosis, characterized by the presence of multiple pigmented skin nevi at birth. Meningeal melanosis tending to become malignant and seizure. Dandy-Walker syndrome is a developmental disorder of brain characterized by cystic dilatation of the fourth ventricle and agenesis or hypoplasia of the cerebellar vermis. We studied a case of Dandy-Walker syndrome with neurocutaneous giant melanosis in a 3 years old boy.
Brain ; Child, Preschool ; Dandy-Walker Syndrome* ; Dilatation ; Fourth Ventricle ; Humans ; Male ; Melanosis* ; Neurocutaneous Syndromes ; Nevus ; Parturition ; Seizures ; Skin

Intradural spinal lipomas are rare, primary genign tumor of the spinal canal. A case of intradural spinal lipoma with intramedullary extension is presented. Clinical feature was slowly progressing paraparesis. A subtotal excision was performed, and pathological studies confirmed the diagnosis.
Diagnosis ; Lipoma* ; Paraparesis ; Spinal Canal ; Spinal Cord Compression ; Spinal Cord Neoplasms

BACKGROUND AND OBJECTIVES: The development of saturation diving has enabled men to work underseas at great depths and for long periods of time. However, the utilization of HeO2 gas mixture has been a aubject of much study. This paper present a discussion effect of the helium gas on speech by usling gas machine which have been developed. MATERIALS AND METHODS: Twenty male volunteers without voice problems produced /a/ vowel sound before and after helium gas inhalation. The results were analyzed by using an aerophone, an acoustic analyzer, videostroboscopy, and a nasometer. RESULTS: The first formant, the second formant and the bandwidths of the second formant were significantly increased after helium gas inhalation. A meaningful change was noted in asalance. CONCLUSION: The helium gas has an effect on the resonant structure of oral and nasal cavity due to its physical characteristics.
Acoustics ; Diving ; Helium* ; Humans ; Inhalation ; Male ; Nasal Cavity ; Voice ; Volunteers

BACKGROUND AND OBJECTIVES: Sudden deafness results from, in most cases, lack an apparent cause. However viral infection, vascular occlusion, cochlear membrane rupture, and others are known to be associated with this disease. In this study, we observed incidence, etiology, audiologic, psychiatric, and clinical aspect of psychogenic sudden deafness through retrospective chart review and analysis of patients who are thought to have had sudden deafness from psychogenic causes and stressor. SUBJECTS AND METHOD: We reviewed the records of 277 patients who had been admitted to the Department of Otolaryngology, Kangbuk Samsung hospital, from January 1997 to July 2003, under the initial diagnosis of idiopathic sudden hearing loss. RESULTS: In patients' medical history, there were 9 patients who had association between sudden onset of hearing loss and psychogenic causes and stressor. And there were 4 patients who had preexisting psycho-pathologic condition. Among these patients, a joint study with psychiatrist classified 7 psychogenic sudden deafness patients (2.5%) who has been ruled out organic causes and showed discrepancy between pure tone audiometry and ABR. In distribution ratio, there were 2 males and 5 females, 4 patients were in their 10's, 1 in 20's, and 2 in 40's (24 years old in average), 3 bilaterals, and 4 unilaterals. In hearing test, there were 4 patients with severe to profound hearing loss at 71 dB or higher, 2 patients with moderately severe hearing loss ranged from 56 to 70 dB, and 1 patient with moderate hearing loss from 41 to 56 dB. Hearing ability of all these patients were partially or completely recovered by treatment including steroid injection and joint psychotherapy with psychiatrist. CONCLUSION: About 2.5% of sudden deafness patients were psychogenic sudden deafness patients, and the results showed distinctive features for each of audiologic, psychiatric, and clinical characteristics. The recovery rate and prognosis were better in patients who had cure and diagnosis under consult with department of psychiatry and accurate audiometry.
Audiometry ; Diagnosis ; Female ; Hearing ; Hearing Loss ; Hearing Loss, Functional* ; Hearing Loss, Sudden* ; Hearing Tests ; Humans ; Incidence ; Joints ; Male ; Membranes ; Otolaryngology ; Prognosis ; Psychiatry ; Psychotherapy ; Retrospective Studies ; Rupture

Purpose: Cysteinyl leukotrienes (CysLTs) have been recognized as key mediators associated with type 2 inflammation in the airways of asthmatic patients. CysLTs are associated with airway constriction, eosinophil recruitment/activation, and airway remodeling. The study aimed to understand the role of CysLTs in adult asthmatics in a real-world clinical setting. Methods: One hundred five adult asthmatics who had maintained antiasthmatic medications were enrolled. Asthmatic subjects were classified into 2 groups according to urinary leukotriene E4 (uLTE4) levels, and their clinical parameters and inflammatory mediators, including forced expiratory volume in 1 second (FEV1) %, fractional exhaled nitric oxide (FeNO), blood eosinophil count, serum periostin (sPON), and urinary eosinophil derived neurotoxin (uEDN) were compared between the high-uLTE4 and low-uLTE4 groups. Results: The prevalence of chronic rhinosinusitis (CRS), severe asthma, and aspirin-exacerbated respiratory disease (AERD) were significantly higher in the high-uLTE4 group than in the low-uLTE4 group. The high-uLTE4 group had lower FEV1% and maximal midexpiratory flow %, but higher FeNO levels than the low-uLTE4 group. In addition, blood eosinophil count, sPON, and uEDN levels were significantly higher in the high-uLTE4 group than in the low-uLTE4 group. The presence of AERD and levels of FeNO, sPON, and uEDN were significantly associated with higher uLTE4 levels in asthmatics. Conclusion CysLTs are associated with type 2 inflammation in the airways of asthmatic patients, contributing to the development of AERD, CRS, and asthma severity. The stratification of clinical phenotypes according to the uLTE4 level could support optimizing anti-inflammatory therapy for better control of asthma.