No abstract available.
Phenylketonurias*

No abstract available.
Humans ; Infant* ; Leukemia, Megakaryoblastic, Acute* ; Sarcoma, Myeloid*

PURPOSE: Congenital muscular torticollis (CMT) is a common and benign congenital disorder of the musculoskeletal system in neonates and infants. The pathophysiology is that the sternocleidomastoid muscle (SCM) is shortened on the involved side by fibrosis, leading to ipsilateral tilt and contralateral rotation of the face and chin. In this study, we investigated the clinical features of CMT, the role of ultrasonography (USG) in prediction of prognoses and the clinical significance of early detection and treatment. METHODS: Forty seven patients (M:F=31:16) were diagnosed as a CMT between March 2003 and May 2006. We reviewed age at diagnosis, physical findings, USG findings, treatment and therapeutic outcome from their medical records. RESULTS: The median age at diagnosis was 90 days (18 days-9 years, 7 months) and the right side of neck was affected in more patients (right:left=26:21). Of 24 patients with a palpable neck mass, 21 had USG; 19 cases showed sternocleidomastoid tumor (SMT). In cases with no neck mass, USG was performed in 11 patients; seven had postural torticollis (POST), three had SMT and one had muscular torticollis (MT). Among 40 patients with follow-up, 36 had total resolution. There was negative correlation between the age at diagnosis and the recovery time, whereas the final outcome was not correlated with USG findings. However, the patients without positive findings in USG had earlier resolution (1 month vs 2.6 months, P=0.0008). The patients with SMT had earlier diagnosis and excellent outcomes. The patients with MT were delayed to diagnosis and had the longest time to resolve. Lastly, the patients with POST had delayed diagnoses, but they had excellent outcomes. CONCLUSION: Since the patients with delayed diagnoses, in despite of benign courses, may take a long time to resolve and rarely need surgical treatment, it is important to diagnose and treat early. This study showed that USG findings of the SCM may be used as predictive factors.
Chin ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Delayed Diagnosis ; Diagnosis ; Fibrosis ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Medical Records ; Musculoskeletal System ; Neck ; Prognosis ; Torticollis* ; Ultrasonography

OBJECTIVE: Density of the chronic subdural hematoma (cSDH) is variable. It often appears to be mixed density. Multiple densities of cSDH may result from multiple episodes of trauma. We investigated the frequency of mixed density and the causes of head injuries representing each density. METHODS: We could collect 242 cases of chronic SDH. The cSDHs were classified into four groups; hypodensity, homogeneous isodensity, layered type, and mixed type on the basis of CT scans. RESULTS: The density of cSDH was isodense in 115 patients, hypodense in 31 patients, mixed in 79 cases, and layered in 17 cases. The cSDH was on the left side in 115 patients, on the right side in 70 patients, and bilateral in 40 patients. The history of trauma was identifiable in 122 patients. The etiology could be identified in 67.7% of the hypodense hematomas, while it was obscure in 59.5% of the mixed hematomas. CONCLUSION: Mixed density of cSDH results from multiple episodes of trauma, usually in the aged. It is hard to remember all the trivial traumas for the patients with the mixed density cSDHs. Although there were membranes within the mixed density hematomas, burr-holes were usually enough to drain the hematomas.
Aged ; Craniocerebral Trauma ; Hematoma ; Hematoma, Subdural, Chronic ; Humans

Gastrointestinal stromal tumors (GISTs) are common mesenchymal tumors that arise in the wall of the gastrointestinal tract. We report a case of obscure gastrointestinal bleeding due to a GIST of the jejunum successfully documented by videocapsule endoscopy (VCE) and single-balloon enteroscopy (SBE). A 36-year-old man with hematochezia was referred for further evaluation of no evidence of bleeding focus on esophagogastroduodenoscopy and colonoscopy. A VCE showed a suspicious ulcerative hyperemic mass that located in about 1 hour apart from duodenal second portion. SBE revealed a nonbleeding 4x2 cm mass with an ulcer at the proximal jejunum. The patient underwent laparoscopic resection without complication. Histological examination revealed a well circumscribed, dumbbell-shaped firm mass comprised of spindle cells. Immunohistochemical staining for CD 117 was diffusely positive, whereas staining for S-100, CD 34 and MIB-1 was all negative. It was confirmed to be a low-grade GIST at the proximal jejunum.
Capsule Endoscopy ; Colonoscopy ; Endoscopy ; Endoscopy, Digestive System ; Gastrointestinal Hemorrhage ; Gastrointestinal Stromal Tumors ; Gastrointestinal Tract ; Hemorrhage ; Humans ; Jejunum ; Ulcer

Apoptosis, including the programmed cell death, is important event in normal cell turnover and maintenance of adult tissues. Apoptosis exerts a homeostatic function in relation to tissues dynamics, as the steady state of continuously renewing tissues achieved by a balance between cell replication and cell death. This study was undertaken to investigate the association between apoptosis and development of the cervical neoplasia. Archival cervical samples from normal epithelium (n 10), low-grade squamous intraepithelial lesions (LSIL, n = 10), high-grade squamous intraepithelial lesions (HSIL, n 10), microinvasive squamous cell carcinomas (n 10), and invasive squamous cell carcinomas (n = 10) were evaluated for apoptosis. We used in situ end-labeling of DNA strand breaks by terminal deoxynucleotidyltransferase incorporation of biotinylated deoxyuridine to 3-OH ends of DNA, identified by nickel-avidine-peroxidase. The apoptotic index (sum of apoptotic bodies divided by the total nuclei times 100) significantly decreased (P<0.05) as the degree of neoplasia increased: 3.1 + 0.9 % in normal epithelium, 5.5 +/- 1.4 % in LSIL, 1.6 +/- 0.4 % in HSIL, 1.9 +/- 0.5 % in microinvasive carcinomas, and 0.6 +/- 0.3 % in invasive carcinomas. Compared to normal epithelium, the total cell number per 200x field increased significantly (P<0,05): 379 +/- 47 in normal epithelium, 462 +/- 228 in LSIL, 670+/-293 in HSIL, 1035 +/- 254 in microinvasive carcinomas, and 1389 +/- 247 in invasive carcinomas. Consequently, these results suggest that progession of cervical carcinogenesis is associated with a decrease in apoptotic index and an increase in the number of the total cell.
Adult ; Apoptosis* ; Carcinogenesis ; Carcinoma, Squamous Cell ; Cell Count ; Cell Death ; Deoxyuridine ; DNA ; DNA Nucleotidylexotransferase ; Epithelium ; Humans

We describe a case of absent aortic and pulmonary valves, diagnosed at 16.4 weeks of gestation. Fetal echocardiography showed cardiomegaly with dilated both ventricles. No valve leaflets were observed in the aorta and pulmonary artery, and a typical to-and-fro flow pattern was noted in both great arteries on color Doppler imaging. Fetal hydrops was also detected. Follow-up ultrasonographic evaluation at 19 weeks demonstrated intrauterine fetal death. Postmortem autopsy revealed the absence of both aortic and pulmonary valve leaflets. To the best of our knowledge, this is the earliest diagnosed case of absent both aortic and pulmonary valves and only the second case to be diagnosed prenatally.
Aorta ; Aortic Valve ; Arteries ; Autopsy ; Cardiomegaly ; Echocardiography ; Fetal Death ; Follow-Up Studies ; Heart Defects, Congenital ; Hydrops Fetalis ; Pregnancy ; Prenatal Diagnosis ; Pulmonary Artery ; Pulmonary Valve*

We describe a case of absent aortic and pulmonary valves, diagnosed at 16.4 weeks of gestation. Fetal echocardiography showed cardiomegaly with dilated both ventricles. No valve leaflets were observed in the aorta and pulmonary artery, and a typical to-and-fro flow pattern was noted in both great arteries on color Doppler imaging. Fetal hydrops was also detected. Follow-up ultrasonographic evaluation at 19 weeks demonstrated intrauterine fetal death. Postmortem autopsy revealed the absence of both aortic and pulmonary valve leaflets. To the best of our knowledge, this is the earliest diagnosed case of absent both aortic and pulmonary valves and only the second case to be diagnosed prenatally.
Aorta ; Aortic Valve ; Arteries ; Autopsy ; Cardiomegaly ; Echocardiography ; Fetal Death ; Follow-Up Studies ; Heart Defects, Congenital ; Hydrops Fetalis ; Pregnancy ; Prenatal Diagnosis ; Pulmonary Artery ; Pulmonary Valve*

Fungal peritonitis in peritoneal dialysis patients is hard to treat without catheter removal and shows higher mortality. Although Candida species is the most common pathogen of fungal peritonitis, there are few reports about Trichosporon inkin induced peritonitis. The authors report the first case of Trichosporon induced peritonitis identified by 18S rRNA sequencing. A 52-year-old male presented to emergency room due to generalized abdominal pain. He had been on continuous ambulatory peritoneal dialysis for 3 years because of end stage renal disease caused by diabetic kidney disease. Dialysate white blood cell count was 800/mL3 with 77% of neutrophils and culture showed Trichosporon inkin via Vitek II system. With removal of catheter and treatment of antifungal agent, the patient was fully recovered and stable on hemodialysis. In case of immunocompromised dialysis patients, uncommon fungal pathogens should be taken into considerations.
Abdominal Pain ; Candida ; Catheters ; Diabetic Nephropathies ; Dialysis ; Emergencies ; Humans ; Kidney Failure, Chronic ; Leukocyte Count ; Male ; Middle Aged ; Neutrophils ; Peritoneal Dialysis ; Peritoneal Dialysis, Continuous Ambulatory ; Peritonitis ; Renal Dialysis ; RNA, Ribosomal, 18S ; Trichosporon

No abstract available.
Hypertension, Pulmonary* ; Pulmonary Veno-Occlusive Disease*