• Title/Summary/Keyword: etiology

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Adult Idiopathic Renal Fanconi Syndrome: A Case Report

  • Park, Dae Jin;Jang, Ki-Seok;Kim, Gheun-Ho
    • Electrolytes & blood pressure
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    • v.16 no.2
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    • pp.19-22
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    • 2018
  • Renal Fanconi syndrome (RFS) is caused by generalized proximal tubular dysfunction and can be divided into hereditary and acquired form. Adult-onset RFS is usually associated with drug toxicity or systemic disorders, and modern molecular genetics may explain the etiology of previous idiopathic cases of RFS. Here, we report the case of a 52-year-old woman with RFS whose etiology could not be identified. She presented with features of phosphaturia, renal glucosuria, aminoaciduria, tubular proteinuria, and proximal renal tubular acidosis. Her family history was unremarkable, and previous medications were nonspecific. Her bone mineral density was compatible with osteoporosis, serum intact parathyroid hormone level was mildly elevated, and 25(OH) vitamin D level was insufficient. Her blood urea nitrogen and serum creatinine levels were 8.4 and 1.19 mg/dL, respectively (estimated glomerular filtration rate, $53mL/min/1.73m^2$). Percutaneous renal biopsy was performed but revealed no specific renal pathology, including mitochondrial morphology. No mutation was detected in EHHADH gene. We propose the possibility of involvement of other genes or molecules in this case of adult RFS.

Diagnosis and Management of Ménétrier Disease in Children: A Case Series Review

  • Krikilion, Jasmina;Levy, Elvira Ingrid;Vandenplas, Yvan
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.24 no.1
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    • pp.109-117
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    • 2021
  • Purpose: Ménétrier disease (MD) was first described in 1888, and 50 cases have been reported until now. We aimed to discuss the etiology, diagnostics, and management of MD in children. Methods: We searched for case reports published from 2014 till 2019 in English using PubMed. Articles were selected using subject headings and key words of interest to the topic. Interesting references of the included articles were also included. Results: The pathophysiology of MD is still uncertain. However, overexpression of transforming growth factor alpha with transformation of the gastric mucosa has been observed, which may be mediated by genetics and provoked by an infectious trigger. Clinically, MD is diagnosed by abdominal pain, vomiting, anorexia, and edema secondary to hypoalbuminemia. A gastroscopy with biopsy is the gold standard for the diagnosis of MD. In children, the disease is self-limiting and only requires supportive treatment. In general, children have a good prognosis and recover spontaneously within a few weeks. Conclusion: Few pediatric cases of MD have been described in recent years, and with all different etiology. Endoscopy with biopsy remains the golden standard for the diagnosis of MD, and in children, the disease is self-limiting.

Lack of Association between the S20G Missense Mutation of Amylin Gene and Essential Hypertension in Korean Population

  • Kang, Byung-Yong;Bae, Joon-Seol;Kim, Jae-Hyoun;Om, Ae-Son;Ryu, Jae-Chun;Eo, Hyun-Seon;Shin, Jae-Hyun;Shin, Jung-Hee;Lee, Chung-Choo;Kim, Ki-Tae
    • Environmental Mutagens and Carcinogens
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    • v.21 no.2
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    • pp.72-76
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    • 2001
  • Essential hypertension is a heterogeneously multifactorial disease in which blood pressure is harmfully high without overt cause. Both genetic and environmental factors have been implicated in its etiology. In view of the regulatory role of this peptide in the carbohydrate metabolism and renin-angiotensin system, amylin gene has been proposed to a candidate gene for essential hypertension. Therefore, we scanned the amylin gene for mutations in 133 Korean normotensives and 61 essential hypertensives by single-strand conformational polymorphism, and found a single heterozygous S20G missense mutation. However, no significant difference was observed between normotensives and essential hypertensives in the distribution of allele and genotype frequencies of this mutation at the amylin gene (P>0.05). This finding suggests that S20G missense mutation of the amylin gene are unlikely to contribute to the etiology of essential hypertension in the Korean population.

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Updating Osteonecrosis of the Femoral Head

  • Young-Seung Ko;Joo Hyung Ha;Jung-Wee Park;Young-Kyun Lee;Tae-Young Kim;Kyung-Hoi Koo
    • Hip & pelvis
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    • v.35 no.3
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    • pp.147-156
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    • 2023
  • Osteonecrosis of the femoral head (ONFH), a condition characterized by the presence of a necrotic bone lesion in the femoral head, is caused by a disruption in the blood supply. Its occurrence is more common in young and middle-aged adults and it is the main reason for performance of total hip arthroplasty in this age group. Its incidence is increasing along with increased use of glucocorticoids for management of adjuvant therapy for treatment of leukemia as well as organ transplantation and other myelogenous diseases. Current information on etiology and pathogenesis, as well as natural history, stage system, and treatments is provided in this review. A description of the Association Research Circulation Osseous (ARCO) criteria for classification of glucocorticoids-and alcohol-associated ONFH, 2019 ARCO staging system, and 2021 ARCO classification using computed tomography for the early stages of ONFH is also provided.

Current Status of Etiology, Epidemiology, Clinical Manifestations and Imagings for COVID-19

  • Meng Di Jiang;Zi Yue Zu;U. Joseph Schoepf;Rock H. Savage;Xiao Lei Zhang;Guang Ming Lu;Long Jiang Zhang
    • Korean Journal of Radiology
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    • v.21 no.10
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    • pp.1138-1149
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    • 2020
  • Coronavirus disease 2019 (COVID-19) is a transmissible respiratory disease that was initially reported in Wuhan, China in December 2019. With the alarming levels of COVID-19 spread worldwide, the World Health Organization characterized COVID-19 as a pandemic. Over the past several months, chest CT has played a vital role in early identification, disease severity assessment, and dynamic disease course monitoring of COVID-19. The published data has enriched our knowledge on the etiology, epidemiology, clinical manifestations, and pathologic findings of COVID-19. Additionally, as the imaging spectrum of the disease continues to be defined, extrapulmonary infections or other complications will require further attention. This review aims to provide an updated framework and essential knowledge with which radiologists can better understand COVID-19.

Role of Endoscopic Ultrasound-Guided Fine-Needle Aspiration in the Evaluation of Abdominal Lymphadenopathy of Unknown Etiology

  • Nonthalee Pausawasdi;Kotchakon Maipang;Tassanee Sriprayoon;Phunchai Charatcharoenwitthaya
    • Clinical Endoscopy
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    • v.55 no.2
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    • pp.279-286
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    • 2022
  • Background/Aims: Endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) is a standard procedure for obtaining tissue from lesions near the gastrointestinal lumen. However, there is a scarcity of information on the diagnostic performance of EUS-FNA for abdominal lymphadenopathy of unknown causes. To assess the accuracy of EUS-FNA in diagnosing abdominal lymphadenopathy of unknown etiology. Methods: The EUS records of patients with undiagnosed abdominal lymphadenopathy between 2010 and 2015 were reviewed. Results: A total of 42 patients were included in this study. Adequate specimens were obtained from 40 patients (95%). The final diagnoses were metastatic cancer (n=16), lymphoma (n=9), tuberculosis (n=8), inflammatory changes (n=6), and amyloidosis (n=1). For diagnosing malignancy, EUS-FNA had a sensitivity of 84.6%, specificity of 95.7%, positive predictive value of 91.7%, negative predictive value of 91.7%, and area under the receiver operating characteristic curve (AUROC) of 0.901. For the diagnosis of lymphoma, EUS-FNA was 100% accurate when combined with cytologic evaluation and immunohistochemical staining. The diagnostic sensitivity decreased to 75%, whereas the specificity remained 100%, for tuberculosis. The overall AUROC was 0.850. No procedure-related complications occurred. Conclusions: EUS-FNA showed high diagnostic performance for abdominal lymphadenopathy of unknown causes, especially malignancy, lymphoma, and tuberculosis. Therefore, it is a crucial diagnostic tool for this patient population.

Acute Liver Failure Secondary to Hepatic Infiltration of Malignant Melanoma

  • Yujin Lee;Jaekwang Lee;Hyunsoo Kim;Changkeun Park;Jaekwon Jung;Daejin Kim;Yun Jin Chung;Hanjun Ryu
    • Clinical Endoscopy
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    • v.55 no.2
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    • pp.287-291
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    • 2022
  • Acute liver failure due to malignant melanoma is uncommon. We presents a case of acute liver failure secondary to hepatic infiltration of a malignant melanoma. An 86-year-old man was admitted with elevated liver enzymes and an increased lactate dehydrogenase level. His condition progressed to acute liver failure, but the etiology of liver failure was unclear. Esophagogastroduodenoscopy was performed to evaluate dyspepsia, which showed signs indicative of malignant melanoma. Based on the endoscopy findings and elevated liver enzyme levels, liver biopsy was performed to confirm the presence of malignant melanoma. Hepatic infiltration of malignant melanoma was observed histologically. However, massive and diffuse liver metastasis is very rare and difficult to identify on imaging studies. If the etiology of liver failure is unclear, diffuse metastatic melanoma infiltration should be considered as differential diagnosis. Early liver biopsy can help to clarify the diagnosis.

Consumption of Ultra-Processed Food and Blood Pressure in Korean Adults

  • Sun Young Shim;Hyeon Chang Kim;Jee-Seon Shim
    • Korean Circulation Journal
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    • v.52 no.1
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    • pp.60-70
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    • 2022
  • Background and Objectives: There is growing evidence supporting the association between ultra-processed food (UPF) consumption and metabolic disease risk. However, little is known about the association between UPF consumption and blood pressure (BP). Thus, this study examined the association between UPF consumption and elevated BP in Korean adults. Methods: This study used data from the Korea National Health and Nutrition Examination Survey (2016-2018) and included 9,188 participants aged 30-79 years without a history of hypertension diagnosis. Food items reported in a one-day 24-hour recall were categorized on the basis of the NOVA (not an acronym) food classification criteria. UPF consumption was estimated as the contribution to total energy intake. Elevated BP was defined as systolic BP ≥120 mmHg or diastolic BP ≥80 mmHg. The independent association between UPF consumption and elevated BP was assessed by multivariable logistic regression analysis. Results: The upper tertile of UPF consumption was significantly associated with elevated BP compared with the lower tertile, after adjusting for potential confounders. A linear trend was observed for elevated BP across the tertiles of the dietary energy contribution of UPF. Similar results were found in stratified analyses by age group, smoking, obesity, and overall dietary quality. However, a marginal level of association was found in some subgroups, current smokers, and non-obese adults. Conclusions: The dietary energy contribution of UPF consumption was positively associated with increased prevalence of elevated BP, and these findings suggest that lowering UPF consumption might help prevent BP elevation.

Validity of Nursing Diagnoses Related to Difficulty in Respiratory Function (호흡기능장애와 관련된 간호진단의 타당도 조사)

  • 김조자;이원희;유지수;허혜경;김창희;홍성경
    • Journal of Korean Academy of Nursing
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    • v.23 no.4
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    • pp.569-584
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    • 1993
  • This study was done to verify validity of nursing diagnoses related to difficulty in respiratory function. First, content validity was examined by an expert group considering the etiology and the signs / symptoms of three nursing diagnoses - ineffective airway clearance, ineffective breathing pattern, impaired gas exchange. Second, clinical validity was examined by comparing the frequencies of the etiologies and signs / symptoms of the three nursing diagnoses in clinical case studies with the results of the content validity. This study was a descriptive study. The sample consisted of 23 experts (professors, head nurses and clinical instructors) who had had a variety of experiences using nursing diagnoses in clinical practice, and 102 case reports done by senior student nurses of the college of nursing of Y-university. These reports were part of their clinical practice in the ICU. The instrument used for this study was a checklist for etiologies and signs and symptoms based on the literature, Doenges and Moorhouse (1988), Kim, McFarland, McLane (1991), Lee Won Hee et al. (1987), Kim Cho Ja et at. (1988). The data was collected over four month period from May 1992 to Aug. 1992. Data were analyzed using frequencies done with the SPSS / PC+ package. The results of this study are summarized as follows : 1. General Characteristics of the Expert Group A bachelor degree was held by 43.5% and a master or doctoral degree by 56.5% of the expert group. The average age of the expert group was 35.3 years. Their average clinical experience was 9.3 years and their average experience in clinical practice was 5.9 years. The general characteristics of the patients showed that there were more women than men, that the age range was from 1 to over 80. Most of their medical diagnoses were diagnoses related to the respiratory. system, circulation or neurologic system, and 50% or more of them had a ventilator with intubation or a tracheostomy. The number of cases for each nursing diagnoses was : · Ineffective airway clearance, 92 cases. · Ineffective breathing pattern, 18 cases. · Impaired gas exchange, 22 cases. 2. The opinion of the expert group as to the classification of the etiology, and signs and symptoms of the three nursing diagnoses was as follows : · In 31.8% of the cases the classification of etiology was clear. · In 22.7%, the classification of signs and symptoms was clear. · In 17.4%, the classification of nursing interventions was clear. 3. In the expert group 80% or mere agreed to ‘dysp-nea’as a common sign and symptom of the three nursing diagnoses. The distinguishing signs and symptoms of (Ineffective airway clearance) were ‘sputum’, ‘cough’, ‘abnormal respiratory sounds : rales’. The distinguishing sings and symptoms of (Ineffective breathing pattern) were ‘tachypnea’, ‘use of accessory muscle of respiration’, ‘orthopnea’ and for (Impaired gas exchange) it was ‘abnormal arterial blood gas’, 4. The distribution of etiology, and signs and symptoms of the three nursing diagnoses was as follows : · There was a high frequency of ‘increased secretion from the bronchus and trachea’ in both the expert group and the case reports as the etiology of ineffective airway clearance. · For the etiologies for ineffective breathing pat-tern, ‘rain’, ‘anxiety’, ‘fear’, ‘obstructions of the tract, ca and bronchus’ had a high ratio in the ex-pert group and ‘decreased expansion of lung’ in the case reports. · For the etiologies for impaired gas exchanges, ‘altered oxygen -carrying capacity of the blood’ and ‘excess accumulation of interstitial fluid in lung’ had a high ratio in the expert group and ‘altered oxygen supply’ in the case reports. · For signs and symptoms for ineffective airway clearance, ‘dyspnea’, ‘altered amount and character of sputum’ were included by 100% of the expert group. ‘Abnormal respiratory. sound(rate, rhonchi)’ were included by a high ratio of the expert group. · For the signs and symptoms for ineffective breathing pattern. ‘dyspnea’, ‘shortness of breath’ were included by 100% of the expert group. In the case reports, ‘dyspnea’ and ‘tachypnea’ were reported as signs and symptoms. · For the sign and symptoms for impaired gas exchange, ‘hypoxia’ and ‘cyanosis’ had a high ratio in the expert group. In the case report, ‘hypercapnia’, ‘hypoxia’ and ‘inability to remove secretions’ were reported as signs and symptoms. In summary, the similarity of the etiologies and signs and symptoms of the three nursing diagnoses related to difficulty in respiratory function makes it difficult to distinguish among them But the clinical validity of three nursing diagnoses was established through this study, and at last one sign and symp-tom was defined for each diagnosis.

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Tobacco Use Increases Oxidative DNA Damage in Sperm - Possible Etiology of Childhood Cancer

  • Kumar, Shiv Basant;Chawla, Bhavna;Bisht, Shilpa;Yadav, Raj Kumar;Dada, Rima
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.16
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    • pp.6967-6972
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    • 2015
  • Background: Cigarette smoking and tobacco chewing are common modes of consuming tobacco all over the world. Parents need to be aware that germ cell integrity is vital for birth of healthy offspring as biological parenting begins much before birth of a child and even before conception. The present study was conducted to determine the etiology of non-familial sporadic heritable retinoblastoma (NFSHRb), by evaluating oxidative sperm DNA damage in fathers due to use of tobacco (smoking and chewing). Materials and Methods: We recruited 145 fathers of NFSHRb children and 53 fathers of healthy children (controls) in the study. Tobacco history was obtained by personal interview. Seminal reactive oxygen species (ROS) in semen, sperm DNA fragmentation index (DFI) and 8 hydroxy 2' deoxyguanosine (8-OHdG) levels in sperm were evaluated. The RB1 gene was screened in genomic blood DNA of parents of children with NFSHRb and controls. Odds ratios (ORs) derived from conditional logistic regression models. Results: There was significant difference in the levels of ROS (p<0.05), DFI (p<0.05) and 8-OHdG (p<0.05) between tobacco users and non-users. The OR of NFSHRb for smokers was 7.29 (95%CI 2.9-34.5, p<0.01), for tobacco chewers 4.75 (2.07-10.9, p<0.05) and for both 9.11 (3.79-39.2; p<0.01). Conclusions: This study emphasizes the adverse effect of tobacco on the paternal genome and how accumulation of oxidative damage in sperm DNA may contribute to the etiology of NFSHRb. In an ongoing parallel study in our laboratory, 11 of fathers who smoked underwent. Meditation and yoga interventions, showed significant decline in levels of highly mutagenic oxidised DNA adducts after 6 months. Thus our lifestyle and social habits impact sperm DNA integrity and simple interventions like yoga and meditation are therapeutic for oxidative damage to sperm DNA.