No abstract available.
Aspergillus* ; Sinusitis*

Townes-Brocks syndrome is an uncommon autosomal dominant condition first described by Townes and Brocks in 1972. We experienced a newborn female who presented with clinical findings of Townes-Brocks syndrome in an otherwise unaffected family. The patient showed the full spectrum of anomalies including anterior placed anus, triphalangeal thumb, preaxial polydactyly, pre-auricular tags, microtia without opening, sensorineural hearing loss and unilateral renal agenesis.
Anal Canal ; Female ; Hearing Loss, Sensorineural ; Humans ; Infant, Newborn ; Polydactyly ; Thumb

PURPOSE: Polyethylene glycol(PEG) with electrolytes has been used for intestinal clearance for colonoscopy and operations in children. But its efficacy and safety for disimpaction in children with chronic functional constipation has been studied little. METHODS: This study enrolled 26 patients with chronic functional constipation(11 children had failed to disimpaction by conventional management at OPD) who were admitted to the Eul-Ji Hospital between May 2000 and July 2003. PEG with electrolytes was administered per oral and/or rectal enema. We observed the effects for disimpaction by measuring the frequency and consistency of stools, and by simple abdominal X-ray. We evaluated the safety by measuring serum electrolytes and osmolarity in three hours after PEG with electrolytes administration, and by observation of the clinical status of the patients. The protocol of PEG with electrolytes was a dose of 60-80 mL/kg within three hours per oral and/or of 15-25 mL/kg by rectal enema. RESULTS: In all patients, simple abdominal X-ray films showed improvements of fecal impaction. Consistency and frequency of stool were improved in all patients except one. As for side effects, diarrhea developed in three patients(11.5% of all patients). Headaches developed in one patient(3.8% of all patients) but it improved without treatment. Serum electrolytes was checked in 16 patients after PEG with electrolytes management and mild hypernatremia(146 mmol/L) was checked in one patient. Serum osmolarity was checked in 11 patients after PEG with electrolytes management and was normal in all patients. CONCLUSION: PEG with electrolytes was effective and safe for disimpaction in children with chronic functional constipation, including patients who had failed in disimpaction by conventional management.
Child* ; Colonoscopy ; Constipation* ; Diarrhea ; Electrolytes* ; Enema ; Fecal Impaction ; Headache ; Humans ; Osmolar Concentration ; Polyethylene Glycols ; Polyethylene* ; X-Ray Film

PURPOSE: To review the clinical and laboratory features of patients with Wilson disease at diagnosis. METHODS: In this retrospective study, records of all 20 patients, who were diagnosed as having Wilson disease at the Paik hospital in Busan from 1990 to 2000, were reviewed. RESULTS: Out of 20 patients, 12 pateints (60%) have hepatic presentation alone, 2 patients (10%) have neurologic presentation, 4 patients (20%) have hepatic and neuropsychiatric presentation, and one patient (5%) has hematologic presentation at diagnosis. One patient (5%) has neither symptom nor laboratory finding of Wilson disease except very low serum ceruloplasmin level and positive family history. Family screening test revealed 3 cases of Wilson disease. 12 patients were revealed to be combined with liver cirrhosis at diagnosis. CONCLUSION: Early diagnosis and treatment is very important in patients with Wilson disease. Children or adolescents who manifest symptoms of hepatitis, who has prolonged elevation of liver enzymes, and has family history of hapatitis of unknown origin, with mild hematologic or urinary abnormalities must be suspected to have Wilson disease. Also, in adolescents with extrapyramidal symptoms or other neuropsychiatric symptoms, liver function test should be done.
Adolescent ; Busan ; Ceruloplasmin ; Child ; Diagnosis ; Early Diagnosis ; Hepatitis ; Hepatolenticular Degeneration* ; Humans ; Liver ; Liver Cirrhosis ; Liver Function Tests ; Mass Screening ; Retrospective Studies

Large anterior cervical osteophytes can occur in degeneration of the cervical spine or in diffuse idiopathic skeletal hyperostosis(DISH). Large osteophytes can produce otolaryngological symptoms such as dysphagia, dysphonia, and foreign body sensation. We describe a DISH patient with giant anterior cervical osteophyte causing chronic dysphagia and dysphonia. A 56-year-old man presented with increasing dysphagia, dysphonia, neck pain and neck stiffness. Physical examination of the neck showed a non-tender and hard mass on the left side at the level of C4-5. Radiography showed extensive ossification of anterior longitudinal ligament along the left anterolateral aspect of vertebral bodies from C2 to T1. The ossification was espe cially prominent at the level of C4-5 and linear breakage was noted at same level. Esophagogram revealed a filling defect along the pharynx and lateral displacement of the esophagus. Giant anterior cervical osteophyte was removed through the leftsided anterolateral cervical approach to the spine. Anterior cervical interbody fusion at C4-5 was followed by posterior cervical fixation using lateral mass screws from C3 to C6. After surgery, dysphagia and dysphonia improved immediately. One year later, cervical CT showed bone fusion at C4-5 bodies and no recurrence of osteophyte. DISH is a common cause of anterior cervical osteophyte leading to progressive dysphagia. Keeping this clinical entity in the differential diagnosis is important in patients with progressive neck stiffness, dysphagia or dysphonia. And surgical treatment of symptomatic anterior cervical osteophyte due to DISH should be considered with a solid fusion procedure preventing postoperative instability or osteophyte progress.
Deglutition Disorders* ; Diagnosis, Differential ; Dysphonia ; Esophagus ; Foreign Bodies ; Humans ; Hyperostosis, Diffuse Idiopathic Skeletal ; Longitudinal Ligaments ; Middle Aged ; Neck ; Neck Pain ; Osteophyte* ; Pharynx ; Physical Examination ; Recurrence ; Sensation ; Spine

Endometrial cancer is the most common malignancy of the female genital tract. The cancer spreads by direct extension, transtubal dissemination, lymphatic dissemination, and/or by hematogenous spread, usually results in lung metastasis, but may less commonly involve liver, brain, and bone. Here, we describe a patient with stage IA endometrial cancer who developed liver recurrence 17 months after surgery.
Brain ; Endometrial Neoplasms ; Female ; Humans ; Liver ; Lung ; Neoplasm Metastasis ; Recurrence

Intracranial lipomas are uncommon and rarely symptomatic benign tumors comprising 0.1% of intracranial tumors. Although they can be found in other sites of the brain, the corpus callosum is generally believed to be the most common location of these tumors. And lipomas within the cerebellopontine (C-P) angle and internal auditory canal are extremely rare. In the C-P angle region, lipomas are the most symptomatic compared in other intracranial regions, although symptoms depend on the origin site and involve neural and vascular tissues adjacent to lipomas. And hearing loss, dizziness and tinnitus are the commonly presenting symptoms. Among these symptoms, hearing loss is the most common, but sudden hearing loss, as in this case, has not been reported. Because of the potential for significant morbidity with surgical resection of these lesions, conservative follow-up is the best treatment option for patients with these rare lesion. But surgery is indicated only when significant progressive or disabling symptoms are present. We experienced a case of right side C-P angle lipoma with sudden hearing loss in a 49-year old female who showed complete recovery of hearing by conservative therapy. With a review of literature, authors report a case of right C-P angle lipoma presented as sudden hearing loss.
Brain ; Cerebellopontine Angle* ; Corpus Callosum ; Deafness ; Dizziness ; Female ; Hearing ; Hearing Loss ; Hearing Loss, Sudden* ; Humans ; Lipoma* ; Middle Aged ; Tinnitus

No abstract available.
Gyeonggi-do* ; Korea* ; Malaria, Vivax*

Ribosomal protein L21 (RPL21) is a structural component of the 60S subunit of the eukaryotic ribosome. This protein has an important role in protein synthesis and the occurrence of hereditary diseases. Pig is a common laboratory model, however, to the best of our knowledge, its RPL21 gene has not been cloned to date. In this study, we cloned and identified the full-length sequence of the pig RPL21 gene for the first time. In addition, we examined its expression pattern and function by using overexpression or knockdown approaches. As a result, we obtained a 604 bp segment that contains a 483 bp open reading frame encoding 160 amino acids. The pig RPL21 gene is located in the “+” strand of chromosome 11, which spans 2167 bp from 4199792 to 4201958. Pig RPL21 protein has nine strands and two helices in its secondary structure. Pig RPL21 is predominantly expressed in ovary and lung, at lower levels in kidney, small intestine, and skin, and at the lowest levels in heart and liver. Furthermore, RPL21 expression is closely connected with cell proliferation and cell cycle arrest. The results are intended to provide useful information for the further study of pig RPL21.
Amino Acids ; Cell Cycle Checkpoints ; Cell Proliferation ; Chromosomes, Human, Pair 11 ; Clone Cells ; Cloning, Molecular* ; Female ; Gene Expression ; Genetic Diseases, Inborn ; Heart ; Intestine, Small ; Kidney ; Liver ; Lung ; Open Reading Frames ; Ovary ; Ribosomal Proteins* ; Ribosomes ; Skin ; Sus scrofa

Perivascular epithelioid cell tumors (PEComas) at the uterus are very rare tumors and about 30 cases have been reported as far as we know. As a case was experienced at our hospital, we would like to report it with a brief review of literature.
Epithelioid Cells* ; Perivascular Epithelioid Cell Neoplasms ; Uterus*