Holt-Oram Syndrome is an autosomal dominant disorder characterized by the association of upper-limb abnormalities and congenital heart disease. A woman with no family history of genetic disease underwent antenatal sonography at 27 weeks' menstrual age to screen for fetal anomalies. Ultrasonography revealed abnormalities in the upper limbs. The limb abnormalities included abscence of bilateral thumbs and radius: the left humus was short. Pregnancy termination was performed. The postnatal chromosomal analysis revealed a normal 46XX karyotype and the autopsy finding confirmed the Holt-Oram syndrome. We report a case of Holt-Oram Syndrome in fetus with unaffected parents with brief of the literatures.
Autopsy ; Extremities ; Female ; Fetus ; Heart Defects, Congenital ; Humans ; Karyotype ; Parents* ; Pregnancy ; Radius ; Soil ; Thumb ; Ultrasonography* ; Upper Extremity

Xenotransplantation using porcine organs could potentially associate with the risk of pathogenic infections, because human tropic porcine endogenous retrovirus (PERV) particles could be released from pig cells or organs. While there is no evidence of PERV transmission to human, safety issues become a paramount concern. For the prevention of this transmission, specific immunological tools must be provided for PERV transmission detection. In this study we described the expression of PERV envelope proteins and the production of a specific antibody against PERV envelope (Env) glycoprotein. The nucleotide sequence harboring the partial region of glycoprotein 70 was cloned into the pET vector and envelope protein was expressed in E. coli. Approximately 42 kDa recombinant Env protein (PERV Env-aa357) was purified by the Ni-affinity column. For antibody production, mice were immunized with the recombinant PERV Env-aa357. The generated anti-serum was tested using Western blot and immunocytochemical assay. We found that anti-PERV Env serum displayed the specificity against the PERV Envs (PERV-A and PERV-B) expressed not only in E. coli but also in mammalian cells, and PERV particles within the porcine cell lines (PK 15 and PK-1). Taken together, PERV antibody could be useful for detecting PERV infection or xenotransplantation transmission.
Animals ; Antibody Formation ; Base Sequence ; Blotting, Western ; Cell Line ; Clone Cells ; Endogenous Retroviruses ; Gene Products, env ; Glycoproteins ; Humans ; Mice ; Proteins ; Sensitivity and Specificity ; Transplantation, Heterologous

BACKGROUND: The poor prognostic factors of far-advanced pulmonary tuberculosis(FAPTB) are lymphocytopenia in the peripheral blood(PB)(<1,000/mm3) and T4-cell count < or =500/mm3. However, the cause of PB lymphocytopenia in FAPTB is unclear. The aim of this study was to analyze the lymphocyte proportion and cytokines of the bone marrow(BM) in FAPTB patients with peripheral lymphocytopenia in order to clarify whether the limiting step of the lymphocytopenia occurs in production, differentiation, or circulation. METHODS: This study included patients with FAPTB between August 1999 and August 2002 who visited Gachon Medical School Gil Medical Center. The exclusion criteria were old age(> or =65years), cachexia or a low body weight, shock, hematologic diseases, or BM involvement of tuberculosis. The distributions of cells in PB and BM were analyzed and compared to the control group. The interleukin(IL)-2, IL-7, IL-10, TNF-alpha, Interferon-gamma, and TGF-beta levels in the BM were measured by ELISA. RESULTS: Thirteen patients(male : female=9:4) were included and the mean age was 42+/-12years. The proportion and count of the lymphocytes in the PB were significantly lower in the FAPTB group (7.4+/- 3.0%, 694+/-255/mm3 vs. 17.5+/-5.8%, 1,377+/-436/mm3, each p=0.0001 and 0.002). The proportion of immature lymphocyte in the BM showed a decreasing trend in the FAPTB group(9+/-4% vs. 12+/-3%, p=0.138). The IL-2(26.0+/-29.1 vs. 112.2+/-42.4pg/mL, p=0.001) and IL-10(3.4+/-4.7 vs. 12.0+/-8.0pg/mL, p=0.031) levels in the BM were significantly lower in the FAPTB group than those in control. The levels of the other cytokines in FAPTB group and control were similar. CONCLUSION: These results suggest that the cause of lymphocytopenia in PB is associated with a abnormality IL-2 and IL-10 production in the BM. More study will be needed to define the mechanism of a decreased reservoir in BM.
Body Weight ; Bone Marrow* ; Cachexia ; Cytokines* ; Enzyme-Linked Immunosorbent Assay ; Hematologic Diseases ; Humans ; Interferon-gamma ; Interleukin-10 ; Interleukin-2 ; Interleukin-7 ; Lymphocytes* ; Lymphopenia* ; Schools, Medical ; Shock ; Transforming Growth Factor beta ; Tuberculosis ; Tuberculosis, Pulmonary* ; Tumor Necrosis Factor-alpha

BACKGROUND: There have been several studies showing that angiotensin II and the angiotensin convertingenzyme (ACE) contribute to the activation of fibroblast including the pulmonary fibrosis, and apoptosis of the al veolar epithelium in idiopathic intersititial pneumonia. This study was performed to identify the relationship between the serum angiotensin II. ACE and the pulmonary function test (PFT), the dyspnea score, and the cell fraction of the bronchoalveolar lavage fluid (BALF). METHODS: Twenty three patients with idiopathic interstitial pneumonia from March, 1999 to October, 2001 at Gachon medical school were enrolled in this study. They were divided into IPF(UIP) (16) and NSIP (7) group. Twelve of the idiopathic interstitial pneumonia patients (UIP : 5, NSIP: 7) were diagnosed by an open lung biopsy, 11 of IPF patients were diagnosed by the American Thoracic Society (ATS) diagnostic criteria. The PFT values, dyspnea score, serum ACE and angiotensin II were measured, and a bronchoscopy was performed to obtain the BALF. RESULTS: Of all the patients, 7 were in the normal range and 14 showed an increase in the serum level of angiotensin II. In terms of the serum ACE level, 14 patients had an increased level. The DLCO% of the angiotensin II. increased group was significantly lower than the not-increased group (p=0.021). Other factors did not correlate with the serum ACE or the angiotensin II increased group and not-increased group. CONCLUSION: These results suggest that an increased angiotensinII serum level may be associated with in crease in the of alveolar capillary block in the progression of pulmonary fibrosis in idiopathic interstitial pneumonia.
Angiotensin II* ; Angiotensins* ; Apoptosis ; Biomarkers* ; Biopsy ; Bronchoalveolar Lavage Fluid ; Bronchoscopy ; Capillaries ; Dyspnea ; Epithelium ; Fibroblasts ; Fibrosis ; Humans ; Idiopathic Interstitial Pneumonias* ; Lung ; Peptidyl-Dipeptidase A* ; Pneumonia ; Pulmonary Fibrosis ; Reference Values ; Respiratory Function Tests ; Schools, Medical

BACKGROUND: A bronchoalveolar lavage(BAL) is useful in diagnosing the etiology of bilateral pulmonary infiltrations, but may worsen the oxygenation and clinical status in severely hypoxemic patients. This study assessed the safety and efficacy of the continuous positive airway pressure(CPAP) using a conventional mechanical ventilator via a face mask as a tool for maintaining the oxygenation level during BAL. METHODS: Seven consecutive patients with the bilateral pulmonary infiltrates and severe hypoxemia (PaO2/FIO2 ratio Anoxia* ; Bronchoalveolar Lavage* ; Bronchoscopes ; Continuous Positive Airway Pressure* ; Gases ; Humans ; Hydrogen-Ion Concentration ; Intubation ; Masks ; Mouth ; Oxygen ; Respiratory Insufficiency ; Ventilators, Mechanical ; Vital Signs

BACKGROUND: A bronchoalveolar lavage(BAL) is useful in diagnosing the etiology of bilateral pulmonary infiltrations, but may worsen the oxygenation and clinical status in severely hypoxemic patients. This study assessed the safety and efficacy of the continuous positive airway pressure(CPAP) using a conventional mechanical ventilator via a face mask as a tool for maintaining the oxygenation level during BAL. METHODS: Seven consecutive patients with the bilateral pulmonary infiltrates and severe hypoxemia (PaO2/FIO2 ratio Anoxia* ; Bronchoalveolar Lavage* ; Bronchoscopes ; Continuous Positive Airway Pressure* ; Gases ; Humans ; Hydrogen-Ion Concentration ; Intubation ; Masks ; Mouth ; Oxygen ; Respiratory Insufficiency ; Ventilators, Mechanical ; Vital Signs

The Aspergillus species produces metabolic products that play a significant role in the destructive processes in the lung. We experie nced a case of chronic necrotizing pulmonary aspergillosis caused by an Aspergillus niger infection, which contained numerous calcium oxalate crystals in the necrotic lung tissue. A 46-year-old man, who had a history of pulmonary tuberculosis, presented with high fever, intermittent hemoptysis and pulmonary infiltrations with a cavity indicated by the chest radiograph. Despite being treated with several antibiotics and anti-tuberculosis regimens, the high fever continued. The sputum cultures yielded A. niger repeatedly, and intravenous amphotericin B was then introduced. The pathological specimen obtained by a transbron chial lung biopsy revealed numerous calcium oxalate crystals in a background of acute inflam matory exudates with no identification of the organism. Intravenous amphotericin B was con tinued at a total dose of 1600 mg, and at that time he was afebrile, although the intermittent hemoptysis continued. On the 63rd hospital day, a massive hemoptysis (about 800 mL) developed, which could not be controlled despite embolizing the left bronchial artery. He died of respiratory failure the next day. It is believed that the oxalic acid produced by A. niger was the main cause of the patient's pulmonary injury and the ensuing massive hemoptysis.
Amphotericin B ; Anti-Bacterial Agents ; Aspergillus niger* ; Aspergillus* ; Biopsy ; Bronchial Arteries ; Calcium Oxalate ; Exudates and Transudates ; Fever ; Hemoptysis ; Humans ; Hyperoxaluria* ; Invasive Pulmonary Aspergillosis ; Lung ; Lung Injury ; Middle Aged ; Niger ; Oxalic Acid ; Radiography, Thoracic ; Respiratory Insufficiency ; Sputum ; Tuberculosis, Pulmonary

OBJECTIVE: Comparison of protein expressions by two-dimensional gel electrophoresis (2-DE) in normal cervix and squamous cell carcinoma tissues in Korean women. METHODS: Normal cervix and squamous cell carcinoma tissues were solubilized with 2-DE buffer and the first dimension of PROTEAN IEF CELL, isoelectric focusing (IEF), was performed using pH3-10 linear IPG strips of 17 cm. And then running 12% sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and sliver stain. Scanned image was analyzed using PDQuest 2-D softwareTM. Protein spot spectrum was identified by assisted laser desorption/ionization-time of fighting (MALDI-TOF) and the protein mass spectrum identifications were performed by searching protein databases of Swiss-prot/TrEMBL, Mascot and MS-FIT. RESULTS: We found 9 up-regulation proteins (Alpha enolase, Keratin 19 type I, Keratin 20 type I, Keratin 13 type I, beta-actin, Aflatoxin B1 aldehyde reductase 1, Annexin A2, Squamous cell carcinoma antigen 2, unknown), 7 down-reguation proteins (Annexin 1, Myosin regulatory light chain 2, 14-3-3 protein epsilon, Heat shock 27 kDa protein, Hypothetical protein (DKFZP434C1715), Tumor necrosis factor receptor superfamily member 13B, Smoth muscle protein 22-alpha) and 6 up and down-regulation proteins (Tropomyosin 1, Tropomyosin 2, Tropomyosin 3, Serine (or cysteine) proteinase inhibitor, Phosphatidylinositol transfer protein alpha isoform, Src homology 3 domain-containing protein HIP-55) between normal cervix and squamous cell carcinoma cell tissues. CONCLUSION: 2-DE offers total protein expressions between normal cervix and squamous cell carcinoma cell tissues, and searching of differently expressed protein for the diagnostic markers of squamous cell carcinoma tissue.
14-3-3 Proteins ; Actins ; Aflatoxin B1 ; Aldehyde Reductase ; Annexin A2 ; Carcinoma, Squamous Cell ; Cervix Uteri ; Databases, Protein ; Down-Regulation ; Electrophoresis, Gel, Two-Dimensional* ; Electrophoresis, Polyacrylamide Gel ; Female ; Hot Temperature ; Humans ; Isoelectric Focusing ; Keratin-13 ; Keratin-19 ; Keratin-20 ; Mass Spectrometry* ; Muscle Proteins ; Myosin Light Chains ; Phospholipid Transfer Proteins ; Phosphopyruvate Hydratase ; Receptors, Tumor Necrosis Factor ; Running ; Serine ; Shock ; Sodium Dodecyl Sulfate ; Tropomyosin ; Up-Regulation ; Uterine Cervical Neoplasms*

Bronchial artery embolization (BAE) is a well accepted and effective treatment for massive and recurrent hemoptysis. However, several complications of BAE have been reported. Cortical blindness is defined as a loss of vision caused by bilateral occipital lobe lesions with normal pupillary light reflexes and a normal fundus. The reported incidence of transient cortical blindness (TCB) after cerebrovertebral angiography is approximately 1%. Two cases of TCB after BAE were found from a Medline search. Here, we report another case of TCB who was treated with BAE for a massive hemoptysis.
Incidence

Bronchial artery embolization (BAE) is a well accepted and effective treatment for massive and recurrent hemoptysis. However, several complications of BAE have been reported. Cortical blindness is defined as a loss of vision caused by bilateral occipital lobe lesions with normal pupillary light reflexes and a normal fundus. The reported incidence of transient cortical blindness (TCB) after cerebrovertebral angiography is approximately 1%. Two cases of TCB after BAE were found from a Medline search. Here, we report another case of TCB who was treated with BAE for a massive hemoptysis.
Incidence