• Journal of Digestive Cancer Research
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• v.2 no.1
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• pp.5-7
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• 2014

Screening and early diagnosis of cancer is important. Screening lead to detect disease earlier, and earlier treatment of disease cause to yield a better outcome than treatment at the onset of symptoms. Some studies suggest that gastric cancer screening may be associated with a reduced risk of mortality from gastric cancer, although there are no definitive data from large controlled trials. Regular colorectal cancer screening or testing is one of the most powerful weapons for preventing colorectal cancer, because some polyps, or growths can be found and removed before they have the chance to turn into cancer. Screening can also result in finding colorectal cancer early, when it is highly curable. In conclusion, to increase utilization of screening is important to decrease gastric and colorectal cancer morbidity and mortality.

• Childhood Kidney Diseases
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• v.27 no.2
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• pp.89-96
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• 2023

Renal nutcracker syndrome (NCS) is the entrapment of the left renal vein between the abdominal aorta and superior mesenteric artery. Although uncommon in pediatric patients, early diagnosis is crucial to avoid potential severe complications, such as anemia or renal vein thrombosis. NCS presents a variety of symptoms, most commonly including "Triade's symptoms"-hematuria, proteinuria, and flank pain. Diagnosis and treatment include invasive and noninvasive management, although due to a lack of pediatric clinical studies, management is widely variable. Conservative diagnosis and treatment are recommended as a first-line option for pediatric patients; however, invasive surgical treatment may be recommended based on symptom severity. This review aims to provide a comprehensive overview of NCS in children to better understand the widely variable incidence, occurrence, and management from early on to allow for early-onset management.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.28 no.1
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• pp.4-13
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• 2017

The seeds of addiction are typically sown years prior to the onset of addictive substance use or engagement in addictive behaviors, due to the priming of the reward pathway (RewP) by alterations in the mechanism of stress-signaling from the hypothalamic-pituitary-adrenal axis (HPA) and related pathways. Excessive stress from a single-event and/or cumulative life experiences during childhood, such as those documented in the Adverse Childhood Experiences Study, is translated into neurobiological toxicity that alters the set-point of the HPA axis and limbic system homeostasis [suggested new term: regulation pathway (RegP)]. The resultant alteration of the RegP not only increases the risk for psychiatric and physical illness, but also that for early onset and chronic addictions by dysregulating the RewP. This paper reviews the interface of these symbiotic pathways that result in the phenotypic pathology of emotional dysregulation, cognitive impairment, and compulsive behaviors, as well as morbidity and shorter life expectancy when dysregulated by chronic stress.

• Journal of Yeungnam Medical Science
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• v.24 no.2
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• pp.322-328
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• 2007

Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle metabolism; it is inherited in an X-linked manner. The OTC catalyzes the third step of the urea cycle, the conversion of ornithine and carbamyl phosphate to citrulline. Deficiency of OTC leads to the accumulation of ammonia, causing neurological deficits. In most affected hemizygote males, OTC deficiency manifests as hyperammonemic coma that often leads to death in the newborn period, and those who recover from the coma may be neurologically impaired due to the sequelae of the hyperammonemic encephalopathy. In some, late-onset manifestations develop. We report a male neonate with early onset OT deficiency that had apnea and was comatous. On mutation analysis using DNA sequencing after polymerase chain reaction (PCR) amplification of the 10 exons, deletions of 10 bases in codon 285, causing a frame shift was detected in exon 8. The mother and a sister were diagnosed as female carriers. Therefore, genetic counseling and the risk assessment could be provided to the family.

• Clinical and Experimental Pediatrics
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• v.64 no.6
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• pp.269-279
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• 2021

Clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9 (CRISPR-Cas9) is an ancient prokaryotic defense system that precisely cuts foreign genomic DNA under the control of a small number of guide RNAs. The CRISPR-Cas9 system facilitates efficient double-stranded DNA cleavage that has been recently adopted for genome editing to create or correct inherited genetic mutations causing disease. Congenital heart disease (CHD) is generally caused by genetic mutations such as base substitutions, deletions, and insertions, which result in diverse developmental defects and remains a leading cause of birth defects. Pediatric CHD patients exhibit a spectrum of cardiac abnormalities such as septal defects, valvular defects, and abnormal chamber development. CHD onset occurs during the prenatal period and often results in early lethality during childhood. Because CRISPR-Cas9-based genome editing technology has gained considerable attention for its potential to prevent and treat diseases, we will review the CRISPR-Cas9 system as a genome editing tool and focus on its therapeutic application for CHD.

• Korean Journal of Family Medicine
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• v.39 no.6
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• pp.375-378
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• 2018

Benign acute childhood myositis (BACM) is a rare transient condition that occurs in children during the early convalescent phase of a viral upper respiratory infection. BACM is self-limiting and characterized by sudden-onset bilateral calf pain that leads to difficulty in walking. We report a case of a 5-year-old boy with BACM who presented with acute-onset bilateral calf pain after a resolved episode of viral pharyngitis and subsequently refused to walk. With conservative treatment, the patient recovered completely after approximately 1 week. Although perplexing and challenging for clinicians unfamiliar with BACM, awareness of this rare clinical condition is essential to preventing unnecessary investigations and reassuring the patient and parents of its excellent prognosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.1
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• pp.21-27
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• 2022

Very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency (VLCADD) leads to a defective 𝛽-oxidation, specifically during prolonged fasting, infection, or exercise. Patients with VLCADD usually suffer from cardiomyopathy, hypoketotic hypoglycemia, hepatic dysfunction, exercise intolerance, muscle pain, and rhabdomyolysis, and sometimes succumb to sudden death. VLCADD is generally classified into three phenotypes: severe early-onset cardiac and multiorgan failure, hypoketotic hypoglycemia, and later-onset episodic myopathy. Diagnostic evaluation comprises acylcarnitine analysis, genetic analysis, and VLCAD activity assay. In the acylcarnitine analysis, the key metabolites are C14:1, C14:2, C14, and C12:1. A C14:1 level >1 mmol/L strongly suggests VLCADD. Various treatment recommendations are available for this condition. Dietary management includes decreasing fat content, increasing medium-chain triglyceride levels, and decreasing fasting periods. Supplementation with L-carnitine is controversial. Triheptanoin (a seven-carbon fatty acid triglyceride) treatment demonstrates improvement of cardiac functions. Bezafibrate may improve the quality of life of patients with VLCAD.

• Journal of Yeungnam Medical Science
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• v.41 no.3
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• pp.150-157
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• 2024

The prevalence of childhood and adolescent obesity has increased and exacerbated during the coronavirus disease 2019 pandemic, both in Korea and globally. Childhood and adolescent obesity poses significant risks for premature morbidity and mortality. The development of serious comorbidities depends not only on the duration of obesity but also on the age of onset. Obesity in children and adolescents affects almost all organ systems, including the endocrine, cardiovascular, gastrointestinal, reproductive, nervous, and immune systems. Obesity in children and adolescents affects growth, cognitive function, and psychosocial interactions during development, in addition to aggravating known adult comorbidities such as type 2 diabetes mellitus, hypertension, dyslipidemia, nonalcoholic fatty liver disease, obstructive sleep apnea, and cancer. Childhood and adolescent obesity are highly associated with increased cardiometabolic risk factors and prevalence of metabolic syndrome. The risk of cardiovascular and metabolic diseases in later life can be considerably decreased by even a small weight loss before the onset of puberty. Childhood and adolescent obesity is a disease that requires treatment and is associated with many comorbidities and disease burdens. Therefore, early detection and therapeutic intervention are crucial.

• Annals of Clinical Neurophysiology
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• v.14 no.1
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• pp.25-28
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• 2012

Background: Bell's palsy is the most common disease of cranial nerve. While most electrodiagnostic tests can detect the abnormality of facial nerve several days later in Bell's palsy, blink reflex usually reveals the abnormality earlier than other tests. Therefore, we investigated the diagnostic usefulness of blink reflex in the early stage of Bell's palsy. Methods: We performed a prospective investigation in patients with facial palsy. We enrolled patients with Bell's palsy who were evaluated within 7 days of symptom onset and excluded patients with secondary causes of facial palsy. We analyzed the findings of blink reflex according to age, sex, evaluation time, and severity of facial palsy. Results: Of 320 consecutive patients with facial palsy, a total of 204 patients were enrolled. Blink reflex was normal for 10 patients and abnormal for 194 patients. The time interval between the symptom onset and the evaluation time was not associated with the result of blink reflex, but House-Brackmann grade was significantly related to the result of blink reflex (P<0.001). Patients with mild Bell's palsy often showed normal blink reflex. Conclusions: Our study shows that blink reflex is useful diagnostic test regardless of evaluation timing in the early stage of Bell's palsy, although it could be normal in patients with mild Bell's palsy.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.4
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• pp.2223-2227
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• 2016

Background: Breast cancer is the most common cancer among Iranian women. Since development of the disease in Iranian women occurs relatively early, the survival rate matters considerably. In different countries, survival of breast cancer patients varies considerably. Therefore, the one-year, three-year, five-year, and ten-year survival rates for breast cancer in Iran were assessed using a meta-analysis. Materials and Methods: This systematic review and meta-analysis was based on valid Iranian sources including SID, MAGIRAN and IRANMEDEX, along with reliable English databases, namely, PUBMED and SCOPUS. In domestic databases, a search was conducted based on key words of breast cancer and survival rate, and in international databases, with "breast cancer" and the equivalent of "neoplasm" of Mesh Word, "survival rate" and "Iran." Then all reviewed papers and theses which met the inclusion criteria were selected for investigation. To conduct the analysis STATA 11.2 software and random-effects models were used. Results: In 24 studies, 22,745 participants were included. The one-year, three-year, five-year and ten-year survival rates were 0.956, 0.808, 0.695 and 0.559, respectively. The minimum and maximum survival rates for 5-years were 0.48 and 0.87. The average age of the onset of the disease was 48.3. Conclusions: As in Iran, since the onset of the disease is at low age, in spite of the relatively high survival rate as compared to other cancers, prevention and screening programs at early age for early stage diagnosis seems necessary.