We report a very rare case of congenital adrenal agenesis presented with adrenal insufficiency in a 4-day-old female newborn. She was admitted with darkish skin color and seizure. Her external genitalia was normal. Elevated serum level of adrenocorticotropic hormone and increased plasma renin activity were observed. Plasma cortisol level and aldosterone level were decreased. Pelvic ultrasonography revealed bilateral agenesis of adrenal glands. Six exons of the steroidogenic factor-1 (SF-1, NR5A1) gene and their intronic flanking sequences were normal. Now, she is continuously receiving replacement doses of glucocorticoids and mineralocorticoids under adrenal insufficiency. Her growth and development are completely normal. We propose that when a patient presents with 46, XY disorder of sex development or normal female genitalia with adrenal insufficiency, SF-1 gene mutation study should be included in the differential diagnosis.
Adrenal Glands ; Adrenal Insufficiency ; Adrenocorticotropic Hormone ; Aldosterone ; Diagnosis, Differential ; Exons ; Female ; Genitalia ; Genitalia, Female ; Glucocorticoids ; Growth and Development ; Humans ; Hydrocortisone ; Infant, Newborn ; Introns ; Mineralocorticoids ; Plasma ; Renin ; Seizures ; Sexual Development ; Skin

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

BACKGROUND: The bacterium Chlamydia trachomatis is one of the leading causes of sexually transmitted diseases worldwide. Since no simple and effective tool exists to diagnose C. trachomatis infections, we evaluated a novel point-of-care (POC) test, aQcare Chlamydia TRF kit, which uses europium-chelated nanoparticles and a time-resolved fluorescence reader. METHODS: The test performance was evaluated by comparing the results obtained using the novel POC testing kit with those obtained using a nucleic acid amplification test (NAAT), using 114 NAAT-positive and 327 NAAT-negative samples. RESULTS: The cut-off value of the novel test was 20.8 with a detection limit of 0.27 ng/mL. No interference or cross-reactivity was observed. Diagnostic accuracy showed an overall sensitivity of 93.0% (106/114), specificity of 96.3% (315/327), positive predictive value (PPV) of 89.8% (106/118), and negative predictive value (NPV) of 97.5% (315/323). The sensitivity of the novel test was much higher than that of currently available POC tests. Furthermore, the relative ease and short turnaround time (30 min) of this assay enables C. trachomatis-infected individuals to be treated without a diagnostic delay. CONCLUSIONS: This simple and novel test is a potential tool to screen a larger population, especially those in areas with limited resources.
Adult ; Aged ; Aged, 80 and over ; Chlamydia Infections/*diagnosis ; Chlamydia trachomatis/*genetics/isolation & purification ; DNA, Bacterial/chemistry/metabolism ; Europium/*chemistry ; Female ; Humans ; Male ; Metal Nanoparticles/*chemistry ; Middle Aged ; Point-of-Care Systems ; Reagent Kits, Diagnostic ; Real-Time Polymerase Chain Reaction ; Sensitivity and Specificity ; Young Adult

Boerhaave's syndrome, spontaneous esophageal rupture, is lethal and associated with a 70% survival rate despite emergent surgical management in recent reports. Early diagnosis and management is critical for more favorable outcome. But, it is difficult to diagnose early because of the low incidence and lack of specific symptoms and signs. We experienced 37 year-old male patient with Boerhaave's syndrome who was heavy drinker, and suffered from chronic renal failure. He visited a hospital because of hematemesis and severe back pain. He was transferred to our hospital with a nasogastric tube insertion, which was penetrating the distal esophagus. A radiologic examination revealed that the distal tip was located in the left pleural cavity. It was assumed that the tube had passed through the preexisting perforation site. Operation was not performed emergently due to delay in diagnosis and severe hyperkalemia. The patient was in a septic condition, but had recovered slowly after systemic broad spectrum antibiotic therapy, pleural drainage and intrapleural antibiotic injections. An esophagography revealed no leakage of gastro-grafin on the 14th hospital day, and he later completely recovered from sepsis.
Adult ; Back Pain ; Diagnosis ; Drainage ; Early Diagnosis ; Esophageal Perforation ; Esophagus ; Hematemesis ; Humans ; Hyperkalemia ; Incidence ; Kidney Failure, Chronic ; Male ; Pleural Cavity* ; Rupture ; Sepsis ; Survival Rate

Acute gastric anisakiasis is caused by gastric mucosal penetration from an Anisakis larvae. It occurs with those who ingest raw or inadequately cooked saltwater fish or squid containing anisakis. The clinical symptoms are severe abdominal pain, nausea, vomiting, diarrhea, and so on. A case of acute gastric Anisakiasis with massive hematemesis was presented. Initial endoscopic examination revealed an edematous or raised erosive lesion with a small blood clot-covered vessel in the fundus which was thought to be a stigmata of recent bleeding. The lesion was treated with an epinephrine-hypertonic saline injection, electrocoagulation, and an ethanol injection. A follow-up gastroscopy revealed an artificial coagulation-induced ulcer at the previous bleeding site. At the ulcer margin, a whitish linear worm was found with half of its body penetrating the gastric mucosa. The worm was removed using biopsy forceps and the patient was subsequently placed on a soft diet. The next day however, hematemesis recurred. Gastroscopic band ligation of the vessel was performed with a cessation of bleeding. Three weeks later, a gastroscopy determined that the ulcer had completely healed.
Abdominal Pain ; Anisakiasis* ; Anisakis ; Biopsy ; Christianity ; Decapodiformes ; Diarrhea ; Diet ; Electrocoagulation ; Endoscopy ; Ethanol ; Follow-Up Studies ; Gastric Mucosa ; Gastroscopy ; Hematemesis* ; Hemorrhage ; Humans ; Larva ; Ligation ; Nausea ; Surgical Instruments ; Ulcer ; Vomiting

Although intestinal bleeding is known to occur in amyloidosis, it is rare as a presenting symptom or sole manifestation of the disease. We experienced a case of intestinal hemor-rhage in a 64-year old female patient with primary amyloidosis, kappa type. Antral muco-sal erosions were discovered and one shallow healing ulcer at the angle. Colonoscopy revealed multiple purplish nodules in the sigmoid colon and descending colon, as well as a large shallow ulcer with blood clots in the sigmoid colon which was suspected to be the intestinal hemorrhage site. Endoscopic biopsy established amyloidosis. Polarizing microscopy after Congo red staining and immunohistochemical staining identified primary amyloid, kappa type. A case of intestinal hemorrhage in patients with primary amyloidosis is presented and the literature is reviewed.
Amyloid ; Amyloidosis* ; Biopsy ; Colon, Descending ; Colon, Sigmoid ; Colonoscopy ; Congo Red ; Female ; Hemorrhage* ; Humans ; Microscopy ; Middle Aged ; Ulcer

Carcinosarcoma of the stomach is regarded as a rare malignant neoplasm composed of both carcinomatous and sarcomatous components in a given tumor. Few cases have been reported since 1904. This is a case of carcinosarcoma of the stomach in a 61-year-old man. He suffered from indigestion, vomiting, and epigastric pain. Endoscopic finding showed a huge protruding mass with intact mucosa on the posterior wall of the antrum up to the pylorus. Surgery was performed and carcinosarcoma with pancreatic invasion was confirmed by pathology.
Carcinosarcoma* ; Dyspepsia ; Humans ; Middle Aged ; Mucous Membrane ; Pathology ; Pylorus ; Stomach ; Vomiting

Multiple primary malignancy is called when two cancers occur independently in one individual. Multiple primary malignancy may be divided into two groups, synchronous or metachronous depending on the interval between their diagnosis. Synchronous cancer is diagnosed simultaneously or within an interval of 6 months and metachronous cancer at interval of more than 6 months. Since Billroth reported the first case of multiple primary malignancy, many cases have been reported partly owing to the advancement of diagnostic procedures and treatment modalities. The incidence of multiple primary malignancy tends to increase and it is fundamental that patients who have been treated for cancer receive a careful follow-up study. Here we report on a case of stage-IV advanced gastric cancer with stage-I renal cell carcinoma which was discovered during the staging procedure of gastric cancer. Both cancers were confirmed histologically and classified as gastric adeno-carcinoma and renal cell carcinoma.
Carcinoma, Renal Cell ; Diagnosis ; Follow-Up Studies ; Humans ; Incidence ; Kidney ; Stomach ; Stomach Neoplasms*

OBJECTIVE: The frequency of CYP2C8 gene polymorphisms in Korean patients with epithelial ovarian cancer was identified and their association with toxicity and effect of the anticancer drug according to haplotypes was analyzed. METHODS: DNA was extracted from 57 epithelial ovarian cancer patients between January 2004 and March 2005. Genetic variations that are three common SNPs (CYP2C8*1D; -411T>C, CYP2C8*1C; -370T>G and CYP2C8*1B; -271C>A) by direct sequence analysis from 57 Korean women with epithelial ovarian cancer were observed. 33 patients who received debulking surgery, were diagnosed over FIGO state III, serous ovarian cancer were enrolled and received paclitaxel based chemotherapy. Among 33 patients 21 chemo-sensitive patients and 12 resistant patients were analyzed. Using these SNPs, We constructed haplotypes and haplotype pairs. CYP2C8 genotypes according to the clinical characteristics were analyzed and evaluated. RESULTS: Genetic analysis revealed the common SNPs' allele frequencies of -411T>C, -370T>G, and -271C>A were 0.3, 0.44, and 0.1. Two common SNPs allele frequency was similar to the data in Korean population substantially, but CYP2C8*1C frequency was more frequent in epithelial ovarian cancer patients and especially in FIGO stage III. Disease free interval in CYP2C8*1C homologous group was longer than others. CONCLUSION: CYP2C8*1C SNPs were detected more frequently in epithelial ovarian cancer patients and especially in FIGO stage III patients. CYP2C8*1C homologous patients had more longer disease free interval than others.
Cytochrome P-450 Enzyme System ; DNA ; Drug Therapy ; Female ; Gene Frequency ; Genetic Variation ; Genotype ; Haplotypes ; Humans ; Ovarian Neoplasms* ; Paclitaxel ; Polymorphism, Single Nucleotide ; Sequence Analysis

STUDY DESIGN: A retrospective study. OBJECTIVES: To determine the necessity of autogenous iliac grafting in selective thoracic fusion with segmental pedicle screw fixation in AIS SUMMARY OF BACKGROUND DATA: Though autografting is the gold standard for scoliosis surgeries, the frequency of complications makes this procedure a problem. In AIS patients subject to selective thoracic fusion, segmental pedicle screw instrumentation enabling a rigid fixation may offer satisfactory fusion with mixed graft of local bone and allograft, negating the need of autogenous cancellous grafting. METHODS: Fifty-eight AIS patients subjected to selective thoracic fusion by segmental pedicle screw fixation were analyzed. Group I consisted of 29 patients with autogenous iliac cancellous graft. Group II consisted of 29 cases with mixed graft of local bone and commercial allograft. The results were graded into union, probable union, probable nonunion and nonunion by the clinical results and radiological results after minimum follow up of 1 year. RESULTS: In group I, the fusion status was union in 21 and probable union in 8 patients with no probable nonunion or nonunions. In Group II, the fusion status was union in 13 and probable union in 16 cases with no probable nonunion or nonunions. There was no significant difference in results between two groups CONCLUSIONS: In AIS patients subject to selective thoracic fusion by segmental pedicle screw fixation, local bone and allograft mixed graft may be used as an alternative to autogenous iliac bone
Adolescent* ; Allografts* ; Autografts ; Follow-Up Studies ; Humans ; Retrospective Studies ; Scoliosis ; Transplantation, Autologous ; Transplants*