No abstract available.
Olivopontocerebellar Atrophies*

Despite current practice there is no evidence to demonstrate the efficacy of intraurethral 2% lidocaine gel as an anesthetic for rigid cystoscopy. To evaluate the usefulness of lidocaine on decreasing pain associated with cystoscopy, we performed a randomized controlled study comparing 2% lidocaine gel with a plain water based lubricant. Pain was recorded on a visual analogue scale by the patient and by the physician. Physician perception of pain experienced by the patient was compared with the actual pain experienced. We found decrease in pain perception in men following lidocaine gel instillation with a 5 or 10 minute dwell time compared to instillation of the plain lubricant.
Anesthetics ; Cystoscopy* ; Humans ; Lidocaine* ; Male ; Pain Perception ; Water

T-cell acute lymphoblastic leukemia (T-ALL) accounts for approximately 10-15% of entire ALL in children. The outcome of T-ALL has been improved through the intensified therapeutic strategy, however, it is still a more aggressive disease. In T-ALL a couple of transcription factor oncogenes are known to be relocated to the juxtaposition of T-cell receptor genes, potent promoter, by chromosome translocation. However the incidence of each chimeric gene formation in T-ALL is less than 5% and their clinical significance as a prognostic marker is lacking. A decade ago it was identified that activating mutations in NOTCH1 in about 60% of T-ALL. After then, activating NOTCH1 mutations present in T-ALL have been extensively investigated with regard to understanding its molecular pathogenesis, its prognostic significance, and developing molecularly tailored novel agents. Small molecule gamma-secretase inhibitor, blocking a proteolytic step required for creation of a fragment of NOTCH intracellular domain which actually act as a controller of its target gene expression, was tried as a target therapeutic drug for T-ALL. Although outcome of this drug was not satisfactory, challenges have been launched to develop new drugs which specifically act on the aberrant behavior of mutated NOTCH1 in T-ALL.
Amyloid Precursor Protein Secretases ; Child ; Gene Expression ; Genes, T-Cell Receptor ; Humans ; Incidence ; Oncogenes ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma ; T-Lymphocytes ; Transcription Factors

BACKGROUND: Systemic hypertension produces varying degree of LVH which is associated with increased cardiovascular morbidiity. Previous studies have documented regression of LVH with various antihypertensives including calcium channel blockers, except diuretics and vasodilators. Recently echocadiographic assessment of the change of left ventricular mass(LVM) after antihyertensive therapy have been reported to offer prognostic cardiovascular information. The aim of this echocardiographic study is determining the influence of nicardipine, a calcium channel blocker, on the change of LVM in patients with essential hypertenison. METHODS: Left ventricular mass(LVM) and left ventricular mass index(LVMI) were measured by M-mode echocardiography in 15 patients with essential hypertension. Nicardipine, a calcium channel blocker, was administered for 6 months and two echocardiographies were done before and after administering, respectively. RESULTS: In the 15 patients treated for 6 months, systolic and diastolic pressure remained very significantly decreased compared with pressure before before therapy(135+/-15mmHg vs 168+/-26mmHg, and 86+/-7mmHg vs 105+/-16mmHg, both p<0.01). Concomitantly both LVM and LVMI decreased significantly(209+/-49g vs 235+/-71g, and 116+/-6g/m2 vs 131+/-38g/m2,both p<0.05). And no change was noted in left ventricular cavity size, demonstration that LVM reduction was due to regression of hypertrophy. CONCLUSION: This study showed that nicardipine produced a significant decrease in blood pressure, LVM, and LVMI over the 6 months period. And large and longterm controlled studies are needed for the clarification of the association between nicardipine and regression of LVH in hypertensive patients.
Antihypertensive Agents ; Blood Pressure ; Calcium Channel Blockers ; Calcium Channels ; Diuretics ; Echocardiography ; Humans ; Hypertension ; Hypertrophy ; Nicardipine* ; Vasodilator Agents

A 19-month-old boy suffered from stridor and dysphagia. He was taking asthma medication for a few months, but symptoms did not improve. After admission, a chest CT showed a posterior mediastinal mass, which compressed the trachea and esophagus. The removed mass via open thoracotomy was a bronchogenic cyst on histopathology. Postoperatively, stridor and dysphagia disappeared. In case of persistent and refractory stridor or dysphagia in children, congenital lesions including bronchogenic cyst need to be ruled out.
Asthma ; Bronchogenic Cyst ; Child ; Deglutition Disorders ; Esophagus ; Humans ; Infant ; Mediastinum ; Respiratory Sounds ; Thoracotomy ; Thorax ; Trachea

PURPOSE: To assess the value of positional shifting to a gravity-dependent area, as revealed by HRCT, in differ-entiating pulmonary edema (PE) from other conditions. MATERIALS AND METHODS: Sixteen consecutive patients in whom plain radiographs suggested the presence of pulmonary edema but the clinical findings were indefinite underwent HRCT of the lung. For initial scanning they were in the supine position, and then in the prone position. Findings of ground-glass opacity, interlobular septal thickening and peribronchovascular interstitial thickening were analyzed in terms of the presence and degree of shifting to a gravity-dependent area, a grade of high, intermediate or low being assigned. RESULTS: PE was diagnosed in 8 of 16 cases, the remainder being designated as non-pulmonary edema (NPE). Ground-glass opacity was observed in all 16, while the degree of positional shifting was found to be high in ten (PE:NPE=6:4), intermediate in four (PE:NPE=2:2), and low in two (PE:NPE=0:2). There was no significant difference between the two groups (p > 0.05). Interlobular septal thickening was observed in all but two NPE cases; the degree of shifting was high in six (PE:NPE=6:0), intermediate in one (PE), and low in seven (PE:NPE=1:6). Shifting was significantly more prominent in PE than in NPE cases (p<0.05). Peribronchovas-cular interstitial thickening was positive in all PE cases and one NPE case, with no positional shifting. CONCLUSION: Positional shifting of interlobular septal thickening to a gravity-dependent area, as demonstrated by HRCT, is the most specific indicator of pulmonary edema.
Edema ; Humans ; Lung ; Prone Position ; Pulmonary Edema* ; Supine Position

Maple syrup urine disease(MSUD) is an autosomal recessive disorder involving the metabolism of the branched-chain amino acids(BCAA) such as leucine, isoleucine and valine. The disorder is due to a defect in branched-chain alpha-ketoacid dehydrogenase(BCKAD) and the classic form causes rapid progressive and overwhelming illness beginning in the first weeks of life, present with poor feeding, lethargy, change in muscle tone, acidosis, seizures and coma. The goal of therapy in acutely ill patients with MSUD is an immediate reduction in the plasma levels of the BCAAs and branched-chain ketoacids. In this report, we describe an infant with MSUD who was treated by dietary therapy alone. During the therapy, acrodermatitis enteropathica-like syndrome developed with low plasma isoleucine concentration while she was receiving a formula deficient in BCAAs.
Acer* ; Acidosis ; Acrodermatitis* ; Amino Acids, Branched-Chain ; Coma ; Diet Therapy* ; Diet* ; Humans ; Infant ; Isoleucine ; Lethargy ; Leucine ; Maple Syrup Urine Disease* ; Metabolism ; Plasma ; Seizures ; Valine

PURPOSE: We report a case of herpes zoster ophthalmicus in a 7-year-old child. METHODS: A 7-year-old boy presented with acute onset of vesiculopapular rash covering his left forehead, upper eyelid, and side of the nose. He was admitted via the pediatrics clinic and was referred to ophthalmology clinic for ophthalmologic examinations. RESULTS: On admission zoster ophthalmicus was limited to his skin and conjunctiva, but the disease progressed to zoster keratitis, uveitis, and meningitis. The patient was treated with topical, oral, and intravenous acyclovir. He had an uneventful recovery and was discharged. CONCLUSIONS: We experienced a case of zoster ophthamicus and meningitis in a patient without an apparent history of chickenpox.
Acyclovir ; Chickenpox ; Child* ; Conjunctiva ; Exanthema ; Eyelids ; Forehead ; Herpes Zoster Ophthalmicus ; Herpes Zoster* ; Humans ; Keratitis ; Male ; Meningitis ; Nose ; Ophthalmology ; Pediatrics ; Skin ; Uveitis

Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes. Although CRC usually occurs after the fourth decade in patients with Lynch syndrome harboring a heterozygous MMR gene mutation, it can occur in children with Lynch syndrome who have a compound heterozygous or homozygous MMR gene mutation. We report a case of CRC in a 13-year-old patient with Lynch syndrome and congenital heart disease. This patient had a heterozygous mutation in MLH1 (an MMR gene), but no compound MMR gene defects, and a K-RAS somatic mutation in the cancer cells.
Adolescent* ; Child ; Colonic Neoplasms ; Colorectal Neoplasms* ; Colorectal Neoplasms, Hereditary Nonpolyposis* ; Female* ; Heart Defects, Congenital ; Humans

A 65-year-old male was admitted to our hospital complaining of painful swelling of right sternocostoclavicular area. In the past history, he had no specific disease including trauma. After admission, chest CT and neck CT showed right empyema and right cervical abscess. Empyemectomy was performed through open thoracotomy and fistulous tract was detected on right parietal pleura and right sternocostoclavicular area. Ostomyelitis was also detected on right sternocostoclavicular area and removal of right cervical abscess, partial resection of proximal clavicle, resection of chondral portion of 1st rib, and partial resection of manubrium were performed. Empyema that extends from sternocostoclavicular osteomyelits, as in this case, is rare. Herein we report a case of loculated empyema with sternocostoclavicular osteomyelitis and neck abscess.
Abscess* ; Aged ; Clavicle ; Empyema* ; Humans ; Male ; Manubrium ; Neck* ; Osteomyelitis* ; Pleura ; Ribs ; Thoracotomy ; Tomography, X-Ray Computed