Authors experienced a case of Morquio' s syndrome accompanied by respiratory failure in a aged fifteen year old boy. Patient showed normal intelligence, but stunted growth with short trunk and unproportionately large head, pectus carinatum, kyposcoliosis, muscular weakness, paralysis and genu valgum. No other member of family was affected with this syndrome. There were radiological findings of subluxation between first and second cervical vertevrae, central beaking with thoracolumbar vertebra plana, wine glass appeared pelvis and shortening of carpal & metacarpal bones of both hands. There were biochemical findings of large proportion of chondroitin sulfate (87%) on urinary mucopolysaccharides examination. Resipratory failure occurred due to compression of cervical spinal cord by subluxation between first and second cervival vertebra. He was maintanied by ventilator, discharged. And he died.
Animals ; Beak ; Chondroitin Sulfates ; Genu Valgum ; Glass ; Glycosaminoglycans ; Hand ; Head ; Humans ; Intelligence ; Male ; Metacarpal Bones ; Muscle Weakness ; Paralysis ; Pelvis ; Respiratory Insufficiency* ; Spinal Cord ; Spine ; Ventilators, Mechanical ; Wine

No abstract available.
Down Syndrome* ; Primary Myelofibrosis*

Trichorrhexis nodosa is the most common hair shaft anomaly in which there is a distinctive response to injury. The hair is fragile and on examination pale `node-like' swelling may be observed. It may affect normal hair following excessive or repeated trauma, or may occur after minimal trauma if there is an inherent defect in keratin synthesis causing abnormally brittle hair. We report a case of localized trichorrhexis nodosa in a 42-year-old male who had scratched frequently for the relief of the pruritus in the parietal area. Scanning electron microscopy revealed longitudinal fissures and fracture in the cortex. A paint brush effect was noted at the site of fracture.
Adult ; Hair ; Humans ; Male ; Microscopy, Electron, Scanning ; Paint ; Pruritus ; Rabeprazole*

Pulmonary alveolar proteinosis is a rare disease, which hallmark is a dense accumulation of PAS positive phospholipid material within alveolar sac. Pulmonary alveolar proteinosis is classified as primary form of unknown etiology and secondary form associated with other diseases. We report a case of secondary pulmonary alveolar proteinosis associated with acute erythroleukemia. A C year old male patient complained of nonproductive cough and general weakness, and presented fine inspiratory crackles at both lower lung field. Chest radiographs and high resolution CT scans showd a lobular pattern of ground-grass opacity with interlobular septal thickening in the center field of the both lungs, Bone marrow aspiration and biopsy revealed acute erythroleukemia. Open lung biopsy revealed PAS positive eosinophilic granular material filled in alveoli. He was treated with TAD chemotherapy, but died from multiorgan failure with pneumonia 22days after chemotherapy.
Biopsy ; Bone Marrow ; Cough ; Drug Therapy ; Eosinophils ; Humans ; Leukemia, Erythroblastic, Acute* ; Lung ; Male ; Pneumonia ; Pulmonary Alveolar Proteinosis* ; Radiography, Thoracic ; Rare Diseases ; Respiratory Sounds ; Tomography, X-Ray Computed

Wilson's disease is a rare autosomal recessive metabolic disease. The ATB7B gene mutation results in a defect of biliary copper excretion and subsequent accumulation of copper in the liver, brain, and sclera. The usual clinical signs of Wilson's disease include hepatitis, liver cirrhosis, movement disorder, or a Kayser-Fleisher ring in the sclera, but patients occasionally present with hepatic failure or hemolytic anemia. Under such metabolic conditions, free copper induce chronic hemolysis with oxidative damage via free radical production, and chronic hemolysis, in turn, can cause secondary pigment bililary stone formation. Herein we report a case of Wilson's disease associated with cholelithiasis in a young female.
Anemia, Hemolytic ; Brain ; Cholelithiasis ; Copper ; Hemolysis ; Hepatitis ; Hepatolenticular Degeneration ; Humans ; Liver ; Liver Cirrhosis ; Liver Failure ; Metabolic Diseases ; Movement Disorders ; Sclera

Macroglobulinemia is the result of an uncontrolled proliferation of lymphocytes and plasma cells in which a large IgM M protein is produced. IgM monoclonal gammopathy is recognized in a variety of lymphoproliferative diseases and Waldenstr?m's macroglobulinemia (WM) is the most frequent disease in this group. We report a case of nodal marginal zone B-cell lymphoma (Nodal MZBCL) accompanied by monoclonal macroglobulinemia. A 58-year-old man was admitted to the hospital with chronic fatigue and dyspnea. Physical examination revealed cervical, subaxillary, and inguinal lymphadenopathy. Histopathologically, monocytoid B cells with abundant pale cytoplasm and small nuclei infiltrated the cervical lymph node. The neoplastic cells were positive for CD 20, bcl-2, and IgM. The serum and urine electrophoresis showed monoclonal spike in the globulin region and immunoelectrophoresis demonstrated immunoglobulin of IgM, kappa type. Immunohistochemically, this monoclonal gammaglobulinemia (IgM, Kappa) was produced and secreted from the nodal MZBCL. This is the first report of nodal MZBCL accompanying macroglobulinemia in Korea.
B-Lymphocytes ; Cytoplasm ; Dyspnea ; Electrophoresis ; Fatigue ; Humans ; Immunoelectrophoresis ; Immunoglobulin M ; Immunoglobulins ; Korea ; Lymph Nodes ; Lymphatic Diseases ; Lymphocytes ; Lymphoma, B-Cell, Marginal Zone* ; Middle Aged ; Paraproteinemias ; Physical Examination ; Plasma Cells ; Waldenstrom Macroglobulinemia*

A metastatic melanoma to the gastrointestinal tract is observed in 1.5~4.4% of all melanoma patients. However, colonic and rectal involvement is less common. A 72-year-old woman was admitted due to abdominal pain and poor oral intake for 20 days. She had a 3 x 4 cm-sized mass on her right inguinal area 4 month ago, which was diagnosed as a malignant melanoma of the inguinal lymph node on excision biopsy. A large exophytic mass with an irregular ulcerlated, whitish patch, erythematous surface was observed in the hepatic flexure during colonoscopy. A histology diagnosis of a metastatic melanoma was made by an optical microscopy examination of the biopsies obtained during the colonscopy, and palliative right hemicolectomy was performed on account of a potential intestinal obstruction. We report a case of a metastatic melanoma of the colon with a review of the relevant literature.
Abdominal Pain ; Aged ; Biopsy ; Colon* ; Colonoscopy ; Diagnosis ; Female ; Gastrointestinal Tract ; Humans ; Intestinal Obstruction ; Lymph Nodes ; Melanoma* ; Microscopy

PURPOSE: Serine-threonine kinase11 (STK11) was originally identified in 1997 as the causative mutation that's responsible for Peutz-Jeghers Syndrome (PJS). Several recent studies have reported that the STK11 gene is an important human tumor suppressor gene in lung cancer. We evaluated the associations between the polymorphisms of the STK11 promoter region and the risk of lung cancer in 901 Koreans. MATERIALS AND METHODS: By direct sequencing, we first discovered three novel polymorphisms (-1,795 T>C, -981 C>T and -160 G>T) and four known polymorphisms (-1,580 C>T, -1,494 A>C, -881 A>G and -458 G>C) of the STK11 promoter region in 24 blood samples of 24 Korean lung cancer patients. Further genotype analyses were then performed on 443 lung cancer patients and 458 controls. RESULTS: We discovered three novel polymorphisms and we identified four known polymorphisms of the STK11 promoter region in a Korean population. Statistical analyses revealed that the genotypes and haplotypes in the STK11 gene were not significantly associated with the risk of lung cancer in a Korean population. CONCLUSION: This is the first study that's focused on the association of STK11 promoter polymorphisms and the risk of lung cancer in a Korean population. To evaluate the role of the STK11 gene for the risk of lung cancer, the genotypes of the STK11 promoter region (-1,795 T>C, -1,494 A>C and -160 G>T) were determined in 901 Koreans, yet the result revealed no significant difference between the lung cancer patients and the controls. These results suggest that the three promoter polymorphisms we studied are not important risk factors for the susceptibility to lung cancer in Koreans.
Genes, Tumor Suppressor ; Genotype ; Haplotypes ; Humans ; Lung ; Lung Neoplasms ; Peutz-Jeghers Syndrome ; Promoter Regions, Genetic ; Risk Factors

BACKGROUND/AIMS: The incidence and severity of Clostridium difficile infection (CDI) have increased worldwide, resulting in a need for rapid and accurate diagnostic methods. METHODS: A retrospective study was conducted to compare CDI diagnosis methods between January 2014 and December 2014. The stool samples, which were obtained in presumptive CDI patients, were compared for their diagnostic accuracy and rapidity, including real-time polymerase chain reaction (PCR) of toxin genes, C. difficile toxin assay, and culture for C. difficile. RESULTS: A total of 207 cases from 116 patients were enrolled in this study and 117 cases (56.5%) were diagnosed as having CDI. Among the 117 cases, the sensitivities of real-time PCR, C. difficile toxin assay, and culture for C. difficile were 87.2% (102 cases; 95% CI, 80.7%–92.8%), 48.7% (57 cases; 95% CI, 41.0%–59.8%), and 65.0% (76 cases; 95% CI, 60.2%–78.5%), respectively (P < 0.005). Notably, 34 cases (29.0%) were diagnosed with CDI by real-time PCR only. The time required to obtain results was 2.27 hours (136.62±82.51 minutes) for real-time PCR, 83.67 hours (5,020.66±3,816.38 minutes) for toxin assay, and 105.79 hours (6,347.68±3,331.46 minutes) for culture (P < 0.005), respectively. CONCLUSIONS: We confirmed that real-time PCR of toxin genes is the most effective diagnostic method for accurate and early diagnosis of CDI. It also helps to diagnose hypervirulent CDI, such as ribotype 027 infection.
Clostridium difficile ; Clostridium ; Diagnosis ; Early Diagnosis ; Humans ; Incidence ; Methods ; Polymerase Chain Reaction ; Real-Time Polymerase Chain Reaction ; Retrospective Studies ; Ribotyping