Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation, craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. This autosomal recessive disease should be differentiated from trisomy 18, which the second most common multiple congenital malformation syndrome. It is therefore clear that the two syndromes have certain features in common, the most consistent being craniofacial and limb abnormalities and intrathoracic pathology. Therefore, final diagnosis should be based on chromosome study. The case that we experienced had typical Pena-Shokeir phenotype, but chromosomal study show 47, XY, +18.
Ankylosis ; Diagnosis ; Extremities ; Fetal Growth Retardation ; Pathology ; Phenotype* ; Polyhydramnios ; Trisomy*

We report a case of sarcoidosis in a 4-year-old girl. She showed the involvements of the skin and eye, which are the characteristics of sarcoidosis in very young patients, and also showed an unusual finding of hepatosplenomegaly. Because the diagnosis of childhood sarcoidosis is difficult and serious sequelae can develop from sarcoidal uveitis, an early skin biopsy and regular ophthalmologic assessment are essential.
Biopsy ; Child, Preschool ; Diagnosis ; Female* ; Humans ; Sarcoidosis* ; Skin ; Uveitis

An ischemic foot can be developed by acute arterial occlusion. Given proper treatment within critical time, the patient can avoid foot amputation and death. Early proper diagnosis and treatment by family physician at the initial clinical interviewing is important in saving the affected leg and the life. Thrombosis and embolism are the common causes of acute arterial occlusion. Thrombosis mostly arises from underlying cardiac disease such as arrhythmia, coronary artery disease and valvular heart disease while arterial occlusion by embolism can be shown on a narrowed artery related with systemic atherosclerosis. Because the treatment options depend on the underlying cause of the acute ischemic foot, it is important to identify the cause of acute ischemic foot. At this paper, we reported a case that the cause of acute ischemic foot of the patient proved paroxysmal atrial fibrillation after some diagnostic tests.
Amputation ; Arrhythmias, Cardiac ; Arteries ; Atherosclerosis ; Atrial Fibrillation ; Coronary Artery Disease ; Diagnostic Tests, Routine ; Embolism ; Embolism and Thrombosis ; Foot ; Heart Diseases ; Heart Valve Diseases ; Humans ; Ischemia ; Leg ; Lower Extremity ; Physicians, Family ; Thrombosis

No abstract available.
Bone Marrow* ; Humans ; Leukemia* ; Peripheral Blood Stem Cell Transplantation*

Tuberous sclerosis is a rare disease, which occurs sporadically or hereditarily and is recognized by its neurological and dermatological manifestations and may be accompanied with renal anomalies. The classical triad is composed of seizure, mental retardation and adenoma sebaceum on face. We experienced two cases of tuberous sclerosis in sporadic forms by mutation without any familial history which suggests the diseases were occurred by mutation rather than by autosomal dominant inheritance. In the first case, a 24-year-female patient with hypertension and abnormal renal function tests which were noted on the routine prenatal check at 32 weeks of gestation delivered normally at 37 weeks. The daughter of patient had seizure when she was 6 years old and was diagnosed as polycystic kidney disease by abdominal computed tomography. This case developed sporadic form of disease without familial history but, the daughter of patient might inherited by autosomal dominant form. The patient's clinical feature was characterized by history of epilepsy, painless abdominal mass due to polycystic kidney disease, abnormal renal function, skin abnormalites including angiofibroma and shagreen patch. Abdominal computed tomography demonstrated numerous variable sized cysts throughout both kidney. In second case, the patient was a 32-year-female patient complaining of 5kg weight gain, abdominal distension due to palpable masses. Her clinical feature was characterized by bilateral huge renal angiomyolipoma with normal renal function and skin abnormality such as erythematous papule on the face. Abd CT and MRI revealed huge angiomyolipoma of about 15cm X 18.5cm X 30cm and 14.5cm X 18cm X 30cm respectively. We presented the two cases with brief review of the literatures.
Angiofibroma ; Angiomyolipoma ; Child ; Epilepsy ; Humans ; Hypertension ; Intellectual Disability ; Kidney ; Magnetic Resonance Imaging ; Nuclear Family ; Polycystic Kidney Diseases ; Pregnancy ; Rare Diseases ; Seizures ; Skin ; Skin Abnormalities ; Tuberous Sclerosis* ; Weight Gain ; Wills

BACKGROUND: As aging occurs, the skin develops more wrinkles and pigmentation, becomes drier, and loses its elasticity. In previous reports, light-emitting diode (LED) phototherapy was proven to stimulate collagen synthesis and accelerate fibroblast-myofibroblast transformation, which has a composite rejuvenation effect. OBJECTIVE: To evaluate the effectiveness and safety of LED phototherapy with 592 nm yellow light for photoaged skin. METHODS: Forty patients with photoaged skin (Korean photographic scale; grade 4approximately7) were enrolled and treated with an LED device producing 592+/-10 nm yellow light for 5 minutes twice a week for 4 weeks. The skin changes were assessed at 0, 2, 4, and 8 weeks by clinical photographs and the Cutometer(R) & Mexameter(R) (MPA 580, Courage+Khazaka Electronic GmbH, Koln, Germany). Measurements were made on the cheek, periorbital area, nasolabial fold, and glabella. RESULTS: At the final visit at 8 weeks, the Cutometer(R) parameters R4 and R6 decreased significantly compared to before treatment, from 0.118 to 0.099 for the periorbital (p=0.017) and 0.517 to 0.425 for the nasolabial fold (p=0.003). The average melanin index decreased significantly, from 133.65 to 124.55 (p<0.005). Fine improvement of wrinkles was shown grossly by reviewing follow-up clinical photographs. No adverse reactions occurred. LED phototherapy with 592+/-10 nm wavelength can be effective and safe in the treatment of photoaged skin. CONCLUSION: The findings suggest the LED with 592 nm yellow light might be an adjuvant therapeutic tool for photoaged skin.
Aging ; Cheek ; Collagen ; Elasticity ; Follow-Up Studies ; Humans ; Melanins ; Nasolabial Fold ; Phototherapy ; Pigmentation ; Rejuvenation ; Skin*

Alveolar soft part sarcoma (ASPS) is a rare epithelial-like soft tissue sarcoma. The two main sites of its occurrence are the lower extremities in adults and the head and neck in children. Primary pulmonary involvement of this sarcoma, without evidence of soft tissue tumor elsewhere, is very exceptional. We present a case of primary ASPS of the lung in a 42-yr-old woman. A computed tomographic scan of the thorax demonstrated a well-circumscribed, solid tumor located in the right upper lobe. The mass was resected by right upper lobectomy. After 5 months, three metastatic lesions, involving lumbar vertebrae and occipital scalp, were found. Histologically, the tumor consisted of alveolar nests of large polygonal tumor cells, the cytoplasm of which frequently revealed periodic acid-Schiff-positive, diastase-resistant intracytoplasmic rod-like structures. On immunohistochemical staining, the tumor cells were positive only for vimentin and alpha-smooth muscle actin. Ultrastuctural study using electron microscopy revealed characteristic electron-dense, rhomboid intracytoplasmic crystals.
Soft Tissue Neoplasms/pathology/radiography ; Sarcoma/*pathology/*radiography ; Rare Diseases/pathology/radiography ; Pulmonary Alveoli/*pathology/*radiography ; Lung Neoplasms/*pathology/*radiography ; Humans ; Female ; Adult

This study aimed to evaluate whether the elevated level of hypoxia-inducible factor-1 alpha (HIF-1 alpha) correlated with histologic types, angiogenesis, tumor cell proliferation, and clinical parameters in common non-small cell lung carcinomas (NSCLCs). We performed immunohistochemical stains using paraffin-embedded tissue blocks from 84 cases of operable NSCLC [No. of squamous cell carcinoma (SCC), 45; No. of adenocarcinoma (AC), 39]. HIF-1 alpha expression was related with histologic types (66.7% in SCCs vs 20.5% in ACs, p<0.001), but not with lymph node status, tumor stage, vascular endothelial growth factor expression, microvessel density (MVD), and proliferating cell nuclear antigen (PCNA) index (p>0.05, respectively). As for the histologic types, MVD and PCNA index were significantly higher in SCCs than in ACs (p=0.009 and p=0.016, respectively). Among HIF-1 alpha positive carcinomas, MVD was significantly higher in HIF-1 alpha positive SCCs than in HIF-1 alpha positive ACs (p=0.023). The overall survival curves were not associated with HIF-1 alpha expression or any other histologic parameters (p>0.05). These findings suggest that HIF-1 alpha expression in NSCLCs may play a differential role according to histologic types, but its prognostic significance is indeterminate.
Adenocarcinoma/metabolism* ; Adenocarcinoma/pathology ; Animals ; Antigens, CD34/metabolism ; Carcinoma, Non-Small-Cell Lung/metabolism* ; Carcinoma, Non-Small-Cell Lung/pathology ; Carcinoma, Non-Small-Cell Lung/surgery ; Carcinoma, Squamous Cell/metabolism* ; Carcinoma, Squamous Cell/pathology ; Cell Division/physiology* ; Human ; Immunohistochemistry ; Proliferating Cell Nuclear Antigen/metabolism ; Survival Rate ; Transcription Factors/metabolism* ; Vascular Endothelial Growth Factor A/metabolism

BACKGROUND/AIMS: Resection of the esophagus for malignant disease or a benign stenosis, has a choice not only of palliative surgery, but also of replacement of the esophagus with a transposed stomach, jejunum, or colon. The first-line method is replacement with a tubulized stomach. The purpose of this study was to investigate the association of esophageal motor dysfunction and gastric emptying time with symptoms after esophagectomy. METHODS: We performed the esophageal manometry and gastric emptying time after esophagectomy for esophageal cancer in 12 patients and for benign esophageal disease in 2 patients. RESULTS: In manometric studies, a zone of high pressure in the esophago-gastric anastomosis distal to the upper esophageal sphincter was associated with symptoms after esophagectomy. The gastric emptying rate was slowed in 7 out of 14 patients, but not associated with symptoms after esophagectomy. CONCLUSIONS: Our data suggest that a high-pressure zone distal to the upper esophageal sphincter was associated with symptoms after esophagectomy in manometric study. The gastric emptying rate was not associated with postoperative symptoms.
Colon ; Constriction, Pathologic ; Esophageal Diseases ; Esophageal Neoplasms ; Esophageal Sphincter, Upper ; Esophagectomy* ; Esophagus ; Gastric Emptying* ; Humans ; Jejunum ; Manometry* ; Palliative Care ; Stomach

BACKGROUND: Examining the biological susceptibility of Mycobacterium tuberculosis to pyrazinamide (PZA) in vitro is very difficult as PZA is inactive under normal culture conditions. The susceptibility test, an enzyme assay for Pzase activity, and a genetic test for pncA gene mutations, were performed in order to predict PZA resistance. METHODS: 28 cultured clinical isolates of Mycobacterium tuberculosis were tested. The biological susceptibility was performed by the absolute concentration method using Lowenstein-Jensen media. The PZase activity was tested by means of Wayne's method. A 710-bp region includes the entire open reading frame of pncA was amplified and sequenced. RESULTS: All six strains with positive PZase activity exhibited no pncA mutations with one strain showing a false resistance in the biological susceptibility test. Among the 22 strains with no PZase activity, 21 exhibited showed pncA mutations. In the biological suscaptibility test, 20 strains were resistant, and one was susceptible, and the other failed to test. The mutation types varied with ten missense, one silent and one nonsense mutation 1 slipped-strand mispairing, and 6 frameshift mutations. Three strains had an adenine to guanine mutation at position - 11 upstream of the start codon. CONCLUSION: The mutation at the pncA promotor region is frequent at -11 upstream position. Automatic sequencing of pncA is a useful tool for rapid and accurate detection of PZA resistant M.tuberculosis, and for demonstrating the epidemiological relatedness of the PZA-resistant M.tubersulosis strains.
Adenine ; Codon, Initiator ; Codon, Nonsense ; Enzyme Assays ; Frameshift Mutation ; Guanine ; Mycobacterium tuberculosis* ; Mycobacterium* ; Open Reading Frames ; Promoter Regions, Genetic ; Pyrazinamide*