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1.
F1000Res ; 11: 443, 2022.
Article in English | MEDLINE | ID: mdl-37125020

ABSTRACT

Background: Colorectal cancer (CRC) is one of the most commonly diagnosed cancers worldwide and genetic mutation plays a vital role in CRC development. A previous study has suggested that genetic alterations among Indonesian patients with CRC might differ from those known in developed countries. This study aimed to describe the genomic profiles of Indonesian patients with CRC. Methods: A total of 13 patients were recruited for this study from May to July 2019. Tissue samples were collected, and genomic DNA was extracted from the samples. AmpliSeq for Illumina Cancer HotSpot Panel v2 Next-generation sequencing was used for DNA sequencing and a genome analysis toolkit was used for local realignment around the discovered variants. Results: A total of 45 genes comprising 391 single nucleotide variants (SNVs) with a depth >10 were observed. The genes with the most variants were STK11, SMAD4, EGFR, and ERBB4 and the genes with the most non-synonymous variants were SMAD4, TP53, FGFR3, CDKN2A, and STK11. Genes and SNVs in at least 90% of all samples consisted of 43 genes comprising 286 variants. Genes with the most non-synonymous SNVs were EGFR, SMO, FGFR3, TP53, STK11, CDKN2A. Genes related to the chromosomal instability pathway, such as TP53, SMAD4, KRAS, and APC, are also found in the analysis. Conclusions: Our findings showed that all patients with CRC in this study had genetic mutations in the chromosomal instability pathway. Analysis of genetic mutation of Indonesian patients with CRC might be crucial for advanced targeted therapy and for better clinical outcomes.


Subject(s)
Colorectal Neoplasms , Humans , Indonesia , Mutation/genetics , Colorectal Neoplasms/genetics , Colorectal Neoplasms/diagnosis , ErbB Receptors , Genomics
2.
World J Clin Cases ; 9(32): 9804-9814, 2021 Nov 16.
Article in English | MEDLINE | ID: mdl-34877319

ABSTRACT

BACKGROUND: An increasing trend in colorectal cancer (CRC) occurring at younger ages has been observed worldwide, even though incidence is declining in the general population. Most currently available guidelines still recommend CRC screening for older populations, despite an alarming rise in early-onset CRC incidence. Risk stratification is necessary to further determine the population most at risk for early-onset CRC. However, epidemiological data on related clinical characteristics and potential risk factors, especially in developing countries, have not been widely reported. AIM: To investigate the prevalence, demographics, clinicopathologic features, and associated factors of young-onset CRC patients in a tertiary hospital in Indonesia. METHODS: Patients undergoing colonoscopy examination between 2008 and 2019, yielding a diagnosis of CRC were identified from medical records. The subjects were classified into two groups according to their age at diagnosis, namely early-onset (18-49 years old) and late-onset (≥ 50-years-old). Demographic data, characteristics, and risk factors of both onset age groups were evaluated using the chi-square and Fisher's exact test. RESULTS: Among 495 CRC patients confirmed by histopathology, 205 (41.4%) were classified as early-onset and 290 (58.6%) as late-onset. Most subjects in the early-onset CRC group were male (53.7%), with 89.8% displaying adenocarcinoma histopathology. A majority (78%) of the early-onset CRC patients had left-sided tumors, with the rectum (41%) and rectosigmoid (17.6%) being the most common sites. Abdominal pain was the most frequent symptom in the early-onset CRC patients (55.6%), which was significantly higher than that in the late-onset CRC patients (43.8%, P < 0.05). Early-onset CRC cases were more likely to be underweight (34.6% vs 20.0%, P < 0.001) compared to late-onset CRC cases. The proportion of subjects with suspected hereditary nonpolyposis colorectal cancer (HNPCC) was also higher in the early-onset CRC group than in the late-onset age group (9.3% vs 4.1%, P < 0.05). However, no difference was observed in the parental or family histories of CRC cases. CONCLUSION: Early-onset CRC patients were more likely to have abdominal pain, underweight status, and HNPCC suspicion than late-onset CRC patients.

3.
JGH Open ; 5(2): 190-192, 2021 Feb.
Article in English | MEDLINE | ID: mdl-33553654

ABSTRACT

Coronavirus disease 2019 (COVID-19) is a novel disorder caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Although it mainly affects the respiratory system, the pancreas could also become the virus' target. The issue regarding pancreatic involvement in COVID-19 has been raised by several researchers. They found increased serum amylase and/or lipase in COVID-19 patients, which suggested pancreatic injury. We aimed to critically review the evidence to provide insights and to answer the very question of the possibility of pancreatic injury. Current evidence shows that increased amylase and/or lipase is not necessarily a pancreatic injury in COVID-19 patients. Those increased enzymes might also be found in other clinical conditions.

4.
Acta Med Indones ; 48(1): 54-7, 2016 Jan.
Article in English | MEDLINE | ID: mdl-27241545

ABSTRACT

Pneumothorax is the presence of air in the pleural space. Its management consists of noninvasive and invasive therapies and it is determined based on clinical manifestations, type and size of pneumothorax. We present a case of a patient with diagnosis of primary spontaneous pneumothorax treated with incentive spirometry (noninvasive therapy). A 20 year old man came to respirology clinic with chief complaint of shortness of breath. He was recently diagnosed with left pneumothorax based on previous chest X-ray in another health care facilities and was advised to undergo tube thoracostomy but he refused the procedure. On physical examination, vital signs were normal. Chest X-ray showed 33% of pneumothorax or 1.2 cm. He was asked to perform incentive spirometry therapy at home. During 12 days of therapy, shortness of breath slowly disappeared and on repeated chest X-ray, it showed minimal pneumothorax in the left upper hemithorax. Noninvasive treatment such as incentive spirometry can be considered in patient with minimal symptoms and no signs of life-threatening respiratory distress.


Subject(s)
Pneumothorax/diagnostic imaging , Pneumothorax/therapy , Spirometry/methods , Humans , Male , Radiography, Thoracic , Young Adult
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