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1.
J Hematop ; 17(2): 97-101, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38492169

ABSTRACT

In chronic myeloid leukemia (CML), patients exhibit the t(9;22)(q34.1;q11.2) translocation, resulting in the formation of a Philadelphia chromosome (Ph). However, a subset of CML patients display variant complex translocations, characterized by three-way, four-way, and five-way translocations, which have been occasionally associated with a poor prognosis. This case report presents the first case of a t(9;22) variant six-way complex translocation in CML. The R banding chromosome karyotyping technique was used to obtain preliminary karyotyping results, and the multi-probe FISH technique was used to assist in the verification of chromosome results. Both FISH and PCR proved the existence of fusion genes. A 45-year-old male patient admitted to our hospital due to elevated WBC and anemia. Bone marrow smears revealed a significant proliferation of mature granulocytes, accompanied by an increase in eosinophils and basophils. Karyotype analysis indicated abnormalities in six chromosomes, including 4, 7, 8, 9, 14, and 22. Further analysis using FISH technology demonstrated the presence of the BCR::ABL1 fusion gene, as well as the mapping of the BCR (22q11), MYC (8q24), IGH (14q32), D4S163 (4q35.1), and D7S486 (7q31) genes to new chromosomes. Ultimately, the karyotype findings were described as t(4;7;9;22;8;14)(q27;q22;q34;q11;q22;q12). PCR showed that BCR::ABL1 was p210. After treatment with imatinib for 4 months, the patient achieved complete cytogenetic response (CCyR) and early molecular response (EMR). This is the first report of complex chromosomal karyotype involving six-way translocation in CML; the combination of chromosome analysis and FISH techniques is an effective strategy in determining the karyotype result.


Subject(s)
Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Translocation, Genetic , Humans , Translocation, Genetic/genetics , Male , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis , Middle Aged , Karyotyping/methods , In Situ Hybridization, Fluorescence , Chromosomes, Human, Pair 22/genetics , Imatinib Mesylate/therapeutic use , Fusion Proteins, bcr-abl/genetics
2.
In Vivo ; 37(4): 1504-1510, 2023.
Article in English | MEDLINE | ID: mdl-37369482

ABSTRACT

BACKGROUND/AIM: Impaired DNA repair capacity may play a critical role in genome instability and carcinogenesis. However, the impact of DNA ligase 1 (Lig1) genotypes on tumorigenesis remains unclear. This study aimed to investigate the contribution of Lig1 rs20579 genotypes to the risk of developing lung cancer, and review the related literature. MATERIALS AND METHODS: Polymerase chain reaction-restriction fragment length polymorphism analysis was used to determine the genotypes of Lig1 rs20579 and evaluate their association with lung cancer risk among 358 lung cancer cases and 716 age- and sex-matched cancer-free control subjects. RESULTS: The distribution of GG, AG, and AA genotypes for Lig1 rs20579 was 77.1%, 20.8%, and 2.1% among the controls, and 76.0%, 21.5%, and 2.5% among the lung cancer cases (p for trend=0.8686). There was no significant difference in the distribution of AG and AA genotypes between the two groups (p=0.8257 and 0.8098, respectively). Allelic frequency analysis indicated that individuals carrying the variant A allele for Lig1 rs20579 had a non-significant 1.07-fold higher risk of developing lung cancer than those carrying the wild-type G allele [95% confidence interval (CI)=0.82-1.40, p=0.6639]. Furthermore, no differential distribution of the Lig1 rs20579 genotype was found among non-smokers (p=0.9910) or smokers (p=0.9001). CONCLUSION: In contrast to Americans, Lig1 rs20579 genotypes do not appear to play a critical role in determining susceptibility to lung cancer among Taiwanese individuals.


Subject(s)
Genetic Predisposition to Disease , Lung Neoplasms , Humans , Case-Control Studies , Genotype , Lung Neoplasms/epidemiology , Lung Neoplasms/genetics , Polymorphism, Single Nucleotide , Risk , Risk Factors , Taiwan/epidemiology
3.
Article in English | MEDLINE | ID: mdl-37022251

ABSTRACT

Inspired by the global-local information processing mechanism in the human visual system, we propose a novel convolutional neural network (CNN) architecture named cognition-inspired network (CogNet) that consists of a global pathway, a local pathway, and a top-down modulator. We first use a common CNN block to form the local pathway that aims to extract fine local features of the input image. Then, we use a transformer encoder to form the global pathway to capture global structural and contextual information among local parts in the input image. Finally, we construct the learnable top-down modulator where fine local features of the local pathway are modulated by global representations of the global pathway. For ease of use, we encapsulate the dual-pathway computation and modulation process into a building block, called the global-local block (GL block), and a CogNet of any depth can be constructed by stacking a necessary number of GL blocks one after another. Extensive experimental evaluations have revealed that the proposed CogNets have achieved the state-of-the-art performance accuracies on all the six benchmark datasets and are very effective for overcoming the "texture bias" and the "semantic confusion" problems faced by many CNN models.

4.
Int J Gen Med ; 15: 4837-4847, 2022.
Article in English | MEDLINE | ID: mdl-35585999

ABSTRACT

Purpose: To investigate the correlation and prognostic significance of low triiodothyronine (T3) syndrome and norepinephrine dosage in patients with sepsis and septic shock. Methods: This single-center, retrospective, cohort study enrolled 169 patients with sepsis and septic shock that were admitted to the intensive care unit of First Hospital of Nanchang, Nanchang, China from June 2017 to July 2019. All included patients were followed up for 28 days or died, whichever was earlier. Patients with free T3 (FT3) of <3.1 pmol/L were considered with low T3 syndrome. The correlation and prognostic significance of the FT3 and maximum dosage of norepinephrine (MDN) within 72 h, as well as other clinical indicators, were analyzed by using correlation analysis, principal component analysis, receiver operating characteristic curve, Youden index, and logistic regression. Results: A total of 138 patients were allocated to the low T3 group. FT3 inversely correlated with the Sequential Organ Failure Assessment (SOFA) score within 24 h, fluid resuscitation volume within 24 h, and lactic acid levels, and positively correlated with the mean arterial pressure. The critical values of age, SOFA, and MDN for predicting the 28-day mortality were 79.5 years, 8.5 points, and 0.61 µg/kg/min, respectively. The mortality of the low T3 and normal T3 groups was similar. Considering the MDN of 0.61 µg/kg/min as the cutoff value, the mortality between the two groups was significantly different. Conclusion: Among patients with sepsis and septic shock, FT3 was inversely correlated with the disease severity. An MDN ≥ 0.61 µg/kg/min within 72 h may be an important prognostic indicator.

5.
Biomed Res Int ; 2015: 642041, 2015.
Article in English | MEDLINE | ID: mdl-25692143

ABSTRACT

INTRODUCTION: Epidermal growth factor receptor (EGFR) mutations are known as oncogene driver mutations and with EGFR mutations exhibit good response to the EGFR tyrosine kinase inhibitor Gefitinib. Some studies have shown that activation of estrogen and estrogen receptor α or ß (ERα/ß) promote adenocarcinoma. We evaluated the relationship between the two receptors and the potential therapeutic benefit with Gefitinib and Tamoxifen. METHODS: We assessed the association between EGFR mutations as well as ERα/ß expression/location and overall survival in a cohort of 55 patients with LAC from a single hospital. PC9 (EGFR exon 19 deletion mutant; Gefitinib-vulnerable cells) and A549 (EGFR wild type; Gefitinib-resistant cells) cancer cells were used to evaluate the in vitro therapeutic benefits of combining Gefitinib and Tamoxifen. RESULTS: We found that the cytosolic but not the nuclear expression of ERß was associated with better OS in LAC tumors but not associated with EGFR mutation. The in vitro study showed that combined Gefitinib and Tamoxifen resulted in increased apoptosis and cytosolic expression of ERß. In addition, combining both medications resulted in reduced cell growth and increased the cytotoxic effect of Gefitinib. CONCLUSION: Tamoxifen enhanced advanced LAC cytotoxic effect induced by Gefitinib by arresting ERß in cytosol.


Subject(s)
Adenocarcinoma/drug therapy , Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Lung Neoplasms/drug therapy , Adenocarcinoma/genetics , Adenocarcinoma/metabolism , Adenocarcinoma/pathology , Adult , Aged , Cell Line, Tumor , ErbB Receptors/genetics , ErbB Receptors/metabolism , Estrogen Receptor alpha/genetics , Estrogen Receptor alpha/metabolism , Estrogen Receptor beta/genetics , Estrogen Receptor beta/metabolism , Female , Gefitinib , Humans , Lung Neoplasms/genetics , Lung Neoplasms/metabolism , Lung Neoplasms/pathology , Male , Middle Aged , Mutation , Quinazolines/administration & dosage , Tamoxifen/administration & dosage
6.
Anaesth Intensive Care ; 41(4): 473-5, 2013 Jul.
Article in English | MEDLINE | ID: mdl-23808505

ABSTRACT

Pleuroscopy is indicated in patients with acute respiratory failure due to an unresolved exudative pleural effusion but it may not be possible to move such patients to the operating theatre or endoscopy room for pleuroscopy due to their critical condition. We report our experience of using flexible bronchoscopy for pleuroscopy to diagnose pleural effusion in patients with acute respiratory failure at the bedside in the intensive care unit. Before pleuroscopy, patients were placed in the lateral decubitus position. We used bedside chest sonography to guide safe entry of the trocar. The skin was sterilised with povidone-iodine and local analgesia was with 2% lignocaine. Incisions were made using a knife with a width of 5 mm. A trocar 5.5 mm in diameter was inserted and a bronchoscope was inserted. The pleural cavity was inspected and biopsies were performed under direct vision in all suspected areas. A 16 Fr pigtail catheter was inserted for drainage after the pleuroscopy. Chest radiographs were routinely obtained after the procedure. In summary, this modified pleuroscopy technique can be performed at the bedside in an intensive care unit.


Subject(s)
Pleural Effusion/therapy , Respiratory Insufficiency/therapy , Thoracoscopy/methods , Bronchoscopy , Critical Care , Humans , Pleural Effusion/complications , Pleural Effusion/diagnosis , Point-of-Care Systems , Respiratory Insufficiency/diagnosis , Respiratory Insufficiency/etiology , Surgical Instruments , Thoracoscopy/adverse effects
7.
Scand J Infect Dis ; 37(11-12): 937-42, 2005.
Article in English | MEDLINE | ID: mdl-16308239

ABSTRACT

We report 2 cases of Aspergillus pseudomembranous tracheobronchitis in patients with diabetes. The first patient succumbed to progressive obstructive respiratory failure despite mechanical ventilation and antifungal therapy. However, the second patient survived. Aspergillus tracheobronchitis should be considered in immuno-compromised patients presenting with cough, chest pain, fever, dyspnea and upper airway obstruction. Early bronchoscopy and histologic examination should be performed. Early, appropriate treatment may be life saving.


Subject(s)
Aspergillosis/etiology , Bronchitis/etiology , Tracheitis/etiology , Aspergillosis/diagnosis , Aspergillus/isolation & purification , Aspergillus/pathogenicity , Bronchitis/diagnosis , Bronchitis/microbiology , Diabetes Complications/diagnosis , Diabetes Complications/etiology , Diabetes Complications/microbiology , Fatal Outcome , Female , Humans , Immunocompromised Host , Middle Aged , Tracheitis/diagnosis , Tracheitis/microbiology
8.
J Emerg Med ; 28(4): 395-402, 2005 May.
Article in English | MEDLINE | ID: mdl-15837019

ABSTRACT

To differentiate severe acute respiratory syndrome (SARS) from non-SARS illness, we retrospectively compared 53 patients with probable SARS and 31 patients with non-SARS who were admitted to Mackay Memorial Hospital from April 27 to June 16, 2003. Fever (> 38 degrees C) was the earliest symptom (50/53 SARS vs. 5/31 non-SARS, p < 0.0001), preceding cough by a mean of 4.5 days. The initial chest X-ray study was normal in 22/53 SARS cases versus 5/31 non-SARS cases. SARS patients with an initially normal chest X-ray study developed infiltrates at a mean of 5 +/- 3.44 days after onset of fever (21/22 SARS vs. 0/5 non-SARS). Rapid radiographic progression of unifocal involvement to multifocal infiltrates was seen in 22 of 24 SARS vs. 0 of 26 non-SARS patients (p < 0.0001). Pleural effusion was not present in any SARS patients but was seen in 6 of 26 non-SARS cases (p < 0.0001). Initial lymphopenia, thrombocytopenia, and elevated lactate dehydrogenase were all more common in SARS than non-SARS (p < 0.0001). They may help differentiate SARS from non-SARS if a reliable and rapid diagnostic test is not available.


Subject(s)
Severe Acute Respiratory Syndrome/diagnosis , Adult , Diagnosis, Differential , Female , Humans , L-Lactate Dehydrogenase/blood , Lymphopenia/diagnosis , Male , Middle Aged , Polymerase Chain Reaction , Radiography, Thoracic , Retrospective Studies , Thrombocytopenia/diagnosis , World Health Organization
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