Hereditary angioedema is a disease of congenital deficiency or functional defect in the C1 esterase inhibitor (C1-INH) consequent to mutation in the SERPING1 gene, which encodes C1-INH. This disease manifests as recurrent, non-pitting, non-pruritic subcutaneous, or submucosal edema as well as an erythematous rash in some cases. These symptoms result from the uncontrolled localized production of bradykinin. The most commonly affected sites are the extremities, face, gastrointestinal tract, and respiratory system. When the respiratory system is affected by hereditary angioedema, swelling of the airway can restrict breathing and lead to life-threatening obstruction. Herein, we report a case of a 24-year-old woman with type 2 hereditary angioedema who presented with recurrent episodic abdominal pain and swelling of the extremities. She had no family history of angioedema. Although her C4 level was markedly decreased (3.40 mg/dL; normal range: 10-40 mg/dL), she presented with a very high C1-INH level (81.0 mg/dL; normal range: 21.0-39.0 mg/dL) and abnormally low C1-INH activity (less than 25%; normal range: 70%-130%). The SERPING1 gene mutation was confirmed in this patient. She was treated with prophylactic tranexamic acid, as needed, and subsequently reported fewer and less severe episodes. To our knowledge, this is the first reported case of type 2 hereditary angioedema in Korea that was consequent to SERPING1 mutation and involved a significantly elevated level of C1-INH as well as a low level of C1-INH activity.
Abdominal Pain ; Angioedema ; Angioedemas, Hereditary* ; Bradykinin ; Complement C1 Inhibitor Protein ; Edema ; Exanthema ; Extremities ; Female ; Gastrointestinal Tract ; Humans ; Korea ; Reference Values ; Respiration ; Respiratory System ; Tranexamic Acid ; Young Adult

PURPOSE: The purpose of this study is to suggest a treatment strategy for stage IV gastric cancer by investigating the behavioral difference between initially and recurrent metastatic disease. METHODS: We reviewed the medical records of the patients who underwent chemotherapy alone for metastatic gastric cancer between January 2006 and September 2013. Patients were divided into those who underwent chemotherapy for metastatic disease since initial diagnosis (IM group) and for metastatic recurrence after curative surgery (RM group). Survival and causes of death were compared between the 2 groups, and significant prognostic factors were also investigated. RESULTS: A total of 170 patients were enrolled in this study. Of these patients, 104 were included in the IM group and 66 in the RM group. Overall survival of the IM group did not differ from that of RM (P = 0.569). In the comparison of the causes of death, the IM group had a greater tendency to die from bleeding (P = 0.054) and pneumonia (P = 0.055). In multivariate analysis, bone metastasis (P < 0.001; HR = 2.847), carcinoma peritonei (P = 0.047; HR = 1.766), and the frequency of chemotherapy (P < 0.001; HR = 0.777) were significantly associated with overall survival of IM group. CONCLUSION: Disease-burden mainly contributes to the prognosis of metastatic gastric cancer, although noncurative gastrectomy may be helpful in reducing the mortality of initially metastatic disease. Therefore, disease-burden should be also prioritized in determining the treatment strategies for stage IV gastric cancer.
Cause of Death ; Diagnosis ; Drug Therapy ; Gastrectomy* ; Hemorrhage ; Humans ; Medical Records ; Mortality ; Multivariate Analysis ; Neoplasm Metastasis ; Pneumonia ; Prognosis ; Recurrence ; Stomach Neoplasms*

Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, multi-systemic disease primarily affecting young male adults with a history of smoking. The two patients with PLCH in our report showed relatively early and atypical radiologic presentations at initial evaluation. On chest CT, PLCH presents variable radiologic features depending on the evolutional stage of the disease. Atypical CT features of PLCH may render precise radiologic diagnosis difficult and usually require lung biopsy for a confirmation of the diagnosis. Our case review is aimed at raising the awareness of radiologists on the atypical CT features of PLCH, to help make accurate radiologic diagnosis and prevent unnecessary and invasive diagnostic procedures.

Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, multi-systemic disease primarily affecting young male adults with a history of smoking. The two patients with PLCH in our report showed relatively early and atypical radiologic presentations at initial evaluation. On chest CT, PLCH presents variable radiologic features depending on the evolutional stage of the disease. Atypical CT features of PLCH may render precise radiologic diagnosis difficult and usually require lung biopsy for a confirmation of the diagnosis. Our case review is aimed at raising the awareness of radiologists on the atypical CT features of PLCH, to help make accurate radiologic diagnosis and prevent unnecessary and invasive diagnostic procedures.

An 18 year old female with oligodontia and maxillary hypoplasia was treated using an interdisciplinary team approach involving orthodontists, maxillofacial surgeons and prosthodontists. Full mouth one-piece fixed partial dentures were the final restoration. The fixed partial dentures fabricated for the maxilla and mandible using the concept of a shortened dental arch resulted in improved esthetics and the masticatory function. This paper describes the treatment procedures for an oligodontia patient with alveolar bone hypoplasia.
Dental Arch ; Denture, Partial, Fixed ; Esthetics ; Female ; Humans ; Mandible ; Maxilla ; Mouth

BACKGROUND/AIMS: Proton pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a newly recognized form of eosinophilic esophagitis (EoE) that responds to PPI therapy. It remains unclear whether PPI-REE represents a subphenotype of gastroesophageal reflux disease, a subphenotype of EoE, or its own distinct entity. The aim was to evaluate the clinicopathologic features of PPI-REE. METHODS: Six patients were diagnosed with PPI-REE based on symptoms, endoscopic abnormalities, esophageal eosinophilia with > or =15 eosinophils/high-power field, and a response to PPI treatment. Symptoms and endoscopic and pathological findings were evaluated. RESULTS: The median follow-up duration was 12 months. Presenting symptoms included dysphagia, heartburn, chest pain, foreign body sensation, acid reflux, and sore throat. All patients had typical endoscopic findings of EoE such as esophageal rings, linear furrows, nodularity, and whitish plaques. Three patients had a concomitant allergic disorder, and one had reflux esophagitis. Four patients exhibited elevated serum IgE, and five had positive skin prick tests. All patients experienced symptomatic resolution within 4 weeks and histologic resolution within 8 weeks after starting PPI therapy. There was no symptomatic recurrence. CONCLUSIONS: PPI therapy induced rapid resolution of symptoms and eosinophil counts in patients with PPI-REE. Large-scale studies with long-term follow-up are warranted.
Adult ; Asian Continental Ancestry Group ; Chest Pain/etiology ; Deglutition Disorders/etiology ; Diagnosis, Differential ; Eosinophilic Esophagitis/complications/*drug therapy/*pathology ; Esophagus/pathology ; Female ; Follow-Up Studies ; Gastroesophageal Reflux/etiology ; Heartburn/etiology ; Humans ; Male ; Middle Aged ; Pharyngitis/etiology ; Phenotype ; Proton Pump Inhibitors/*therapeutic use ; Republic of Korea ; Retrospective Studies ; Sensation Disorders/etiology ; Treatment Outcome ; Young Adult

OBJECTIVES: To determine the diagnostic performance of transrectal ultrasound in virgin patients with polycystic ovary syndrome (PCOS) by receiver operating characteristic (ROC) curve analysis, compared with conventional transvaginal ultrasound assessment. METHODS: Ultrasound examinations were performed in 963 Korean women, with transvaginal transducers in 677 women and transrectal transducers in 286 women at Ewha Womans University Mokdong Hospital. Transvaginal ultrasound examinations were performed in 494 normal control women and 183 PCOS patients according to National Institutes of Health (NIH) PCOS diagnostic criteria. In virgin patients, transrectal ultrasound examinations were performed in 141 normal control women and 145 PCOS patients. ROC curves were calculated for ovarian volume and follicle number. RESULTS: By transvaginal ultrasound examination, the ovarian volume showed an area under the ROC curve (AURC) of 0.838. An ovarian volume decision threshold > 7 cm3 had a sensitivity of 73.0% and a specificity of 84.2% for the diagnosis of PCOS. The follicle number showed an AURC of 0.886. A follicle number decision threshold > or = 9 had a sensitivity of 78.6% and a specificity of 87.2% for the diagnosis of PCOS. By transrectal ultrasound examination, the ovarian volume and the follicle number showed AURCs of 0.815 as same thresholds with a sensitivity of 67.2% and 66.4%, respectively and a specificity of 86.8% each. Ovarian volume and follicle number by transvaginal and transrectal ultrasound assessment had a high diagnostic power for PCOS screening. CONCLUSION: Transrectal ultrasound assessment is as effective as conventional transvaginal ultrasound for the detection of PCOS in virgin patients.
Diagnosis ; Female ; Humans ; Mass Screening ; National Institutes of Health (U.S.) ; Polycystic Ovary Syndrome* ; ROC Curve ; Sensitivity and Specificity ; Transducers ; Ultrasonography*

Intestinal tuberculosis is an infection of the gastrointestinal tract by the Mycobacterium tuberculosis complex. To the best of our knowledge, solitary intestinal tuberculosis accompanied by intestinal obstruction, particularly in the middle of the small intestine, is extremely rare. We report a case of solitary jejunal tuberculosis in a 49-year-old man with no underlying disease. He was admitted a few days after the onset of diffuse abdominal discomfort. Upon evaluation, we initially considered a malignancy of the distal jejunum with ileus due to the presence of a mass. Therefore, he underwent laparoscopic resection of the small bowel. Unexpectedly, the histologic specimen showed a chronic caseating granulomatous lesion with acid-fast bacilli. Ultimately, he was diagnosed with solitary jejunal tuberculosis. He was successfully treated with anti-tuberculosis drugs without any complications.
Gastrointestinal Tract ; Humans ; Ileus ; Immunocompetence ; Intestinal Obstruction* ; Intestine, Small ; Jejunum ; Middle Aged ; Mycobacterium tuberculosis ; Tuberculosis* ; Tuberculosis, Gastrointestinal