C677T mutation in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) predisposes to hyperhomocysteinemia in vivo and is known to be one of the causes of perinatal ischemic stroke. As MTHFR plays a role in the metabolism of homocysteine, C677T mutation may account for reduced enzymatic activity resulting in hyperhomocysteinemia. This may be prevented by introducing activity-enhancing coenzymes such as folic acid, vitamin B6, and B12. Though C677T mutation is known as a significant risk factor for cerebral infarction, reported cases of cerebral infarction among affected neonates are scarce. This report describes a case of a neonate homozygous for C677T mutation who had a perinatal ischemic stroke, born in a mother whose folic acid and nutritional consumption had been reduced during pregnancy.
Cerebral Infarction* ; Coenzymes ; Folic Acid ; Homocysteine ; Humans ; Hyperhomocysteinemia ; Infant, Newborn ; Metabolism ; Mothers ; Oxidoreductases ; Pregnancy ; Risk Factors ; Stroke ; Vitamin B 6

Background/Aims: Although an association between achalasia and esophageal cancer has been reported, whether achalasia confers a substantial increase in mortality is unknown. Moreover, the causes of death related to achalasia have not been investigated. We performed this nationwide, population-based cohort study on achalasia because no such study has been performed since the introduction of high-resolution manometry in 2008. Methods: This study was performed using data extracted from the Korean National Health Insurance Service database, covering a 9-year period from 2009 to 2017. Control participants without a diagnostic code for achalasia were randomly selected and matched by sex and birth year at a case-to-control ratio of 1:4. Data on the cause of death from Statistics Korea were also analyzed. Results: The overall incidence of achalasia was 0.68 per 100,000 person-years, and the prevalence was 6.46 per 100,000 population. Patients with achalasia (n=3,063) had significantly higher adjusted hazard ratio (aHR) for esophageal cancer (aHR, 3.40; 95% confidence interval [CI], 1.25 to 9.22; p=0.017), pneumonia (aHR, 2.30; 95% CI, 1.89 to 2.81; p<0.001), aspiration pneumonia (aHR, 3.92; 95% CI, 2.38 to 6.48; p<0.001), and mortality (aHR, 1.68; 95% CI, 1.44 to 1.94; p<0.001). Esophageal cancer carried the highest mortality risk (aHR, 8.82; 95% CI, 2.35 to 33.16; p=0.001), while pneumonia had the highest non-cancer mortality risk (aHR, 2.28; 95% CI, 1.31 to 3.96; p=0.004). Conclusions In this nationwide study, achalasia was associated with increased risk of mortality.Esophageal cancer and pneumonia were the most common comorbidities and the major causes of death in patients with achalasia.

BACKGROUND AND OBJECTIVES: Obstructive sleep apnea (OSA) is the most common form of sleep-disordered breathing and affects quality of life. Several questionnaires have been developed for screening OSA. The aim of this study was to compare the anthropometric measurements of OSA patients using sleep questionnaires as a tool to screen patients with OSA. MATERIALS AND METHOD: This study enrolled 126 adult OSA patients. All subjects underwent overnight polysomnography (PSG) and were measured for body mass index (BMI), neck circumference, waist circumference, and tonsil size. Patients were screened using the Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI), Berlin questionnaire (Berlin Q), and STOP questionnaire (STOP Q). Correlation and multiple regression analyses were conducted to determine the predictive value of the anthropometric measurements of OSA patients. RESULTS: ESS, Berlin Q, and STOP Q results were associated with apnea hypopnea index (AHI), minimal oxygen saturation of PSG and BMI, neck circumference, waist circumference, and hip circumference of OSA patients. However, facial contour did not significantly influence the results of sleep questionnaires. CONCLUSION: Some anthropometric characteristics are associated with sleep questionnaire results. Not only sleep questionnaires, but also anthropometric data can be used as predictive tools of OSA.
Adult ; Apnea ; Berlin ; Body Mass Index ; Hip ; Humans ; Mass Screening ; Neck ; Oxygen ; Palatine Tonsil ; Polysomnography ; Quality of Life ; Sleep Apnea Syndromes ; Sleep Apnea, Obstructive* ; Waist Circumference

BACKGROUND AND OBJECTIVES: Obstructive sleep apnea (OSA) is a common yet an under-diagnosed sleep related breathing disorder associated with many adverse health outcomes. OSA is commonly associated with cardiovascular disorders that include coronary artery disease, heart failure, hypertension, cardiac arrhythmias and stroke. The aim of this study was to investigate the physical characteristics of OSA patients as a screening test for sleep apnea associated cardiovascular disease. SUBJECTS AND METHOD: One hundred twenty-six adult OSA patients were enrolled in this study. All subjects underwent an overnight polysomnography (PSG) and were determined body mass index (BMI), neck circumstance, waist circumstance, tonsil size, etc. Cardiovascular events, such as hypertension, cardiovascular accident, myocardial infarction, and angina were analyzed. The correlation and multiple regression analysis were conducted to find influential and predictive factors of cardiovascular complications of OSA. RESULTS: PSG findings, apnea-hypopnea index (AHI), minimal oxygen saturation, and oxygen desaturation index were associated with BMI, neck circumstance, and waist circumstance. Tonsil size was also associated with AHI and oxygen desaturation index. However, PSG results were not associated with cardiovascular accidents of OSA patients. Hypertension was associated with tonsil size, angina was associated with Mallampati score and cardiovascular accident was associated with tonsil size. CONCLUSION: Although we cannot find the statistical relation between PSG results and cardiovascular disease, tonsil size and Mallampati score influenced the risk of cardiovascular accident.
Adult ; Arrhythmias, Cardiac ; Body Mass Index ; Cardiovascular Diseases ; Coronary Artery Disease ; Heart Failure ; Humans ; Hypertension ; Mass Screening ; Myocardial Infarction ; Neck ; Oxygen ; Palatine Tonsil ; Polysomnography ; Respiration ; Sleep Apnea Syndromes ; Sleep Apnea, Obstructive* ; Stroke

Purpose: The mean platelet volume (MPV) is regarded as a marker for thrombosis, atherosclerosis, and inflammation in various vascular diseases. However, it still remains unclear whether plasma MPV is associated with cerebral white matter hyperintensities (WMH) and cerebral microvascular pathology in the elderly population. Materials and Methods: We examined whether MPV level is associated with the presence of cerebral WMH on brain magnetic resonance imaging from 870 non-stroke outpatient subjects. The subjects were divided into three groups according to the consecutive level of MPV (low T1, middle T2, and high T3 MPV tertile groups). To determine the association of MPV levels with the WMH, logistic regression and receiver operating characteristic curve analyses were conducted. Results: Subjects with higher MPV level were older and more likely to have hypertension, diabetes mellitus, and low renal function. Cerebral WMH were more prevalent in subjects with higher MPV level. After adjusting for confounding factors, moderate to severe cerebral WMH were significantly associated with high MPV tertile level. This association remained significant after adjusting for other cerebral vascular pathologies. T2 [odds ratio (OR): 1.49, 95% confidence interval (CI): 1.03–2.15] and T3 MPV tertile groups (OR: 1.51, 95%CI: 1.04–2.20) had more cerebral WMH lesions compared to T1 MPV tertile group. In addition, the subjects with higher Fazekas scores showed higher MPV level (p=0.020). Conclusion We found that high MPV level is independently associated with cerebral WMH. This result suggests that platelet activation plays a role in the development of cerebral WMH.

Cronkhite-Canada syndrome (CCS) is a rare, noninherited gastrointestinal polyposis syndrome associated with ectodermal changes such as alopecia, nail dystrophy, and cutaneous hyperpigmentation. The etiology and pathogenesis of CCS are not known, but diarrhea, malnutrition, gastrointestinal bleeding, and infection may occur in the affected patient; moreover, this condition could be fatal. However, previous reports have described several cases of spontaneous remission. We report a 60-year-old man who was incidentally found to have colonic polyposis, alopecia, and hypogeusia and was diagnosed to have CCS. However, this patient experienced spontaneous remission, including regrowth of body hair and alleviation of bowel inflammation, without any specific medications such as steroids, antibiotics, or proton pump inhibitors.
Ageusia ; Alopecia ; Anti-Bacterial Agents ; Colon ; Diarrhea ; Ectoderm ; Hair ; Hemorrhage ; Humans ; Hyperpigmentation ; Inflammation ; Intestinal Polyposis* ; Malnutrition ; Middle Aged ; Nails ; Proton Pump Inhibitors ; Remission, Spontaneous* ; Steroids

Popliteal artery aneurysms are rare, but they are the second commonest aneurysm in frequency after aorto-iliac aneurysms. The most commonly reported complications of popliteal artery aneurysm are arterial origin such as occlusion or distal embolization that may result in limb loss, so popliteal artery aneurysm is recognized as 'the silent killer of the leg circulation'. It rarely manifests the clinical symptoms of acute deep vein thrombosis. Thrombosis and compression of the popliteal vein may cause the symptoms of lower extremity venous insufficiency, which accounts for nearly 5% of all popliteal artery aneurysms. We report here a 40 year-old man with acute deep vein thrombosis in the lower extremity, and this was secondary to popliteal artery aneurysm. Preoperative Duplex ultrasound and CT angiography revealed a 6 cm-sized popliteal artery aneurysm and thrombosis of the popliteal vein. The aneurysm was treated with partial resection of the aneurysm with an end to end PTFE bypass graft. We feel it is important to exclude a popliteal artery aneurysm in a patient suffering with deep vein thrombosis.
Aneurysm ; Angiography ; Arteries ; Extremities ; Humans ; Leg ; Lower Extremity ; Polytetrafluoroethylene ; Popliteal Artery ; Popliteal Vein ; Stress, Psychological ; Thrombosis ; Transplants ; Veins ; Venous Insufficiency ; Venous Thrombosis

BACKGROUND/AIMS: The pathophysiologic mechanism of rectal hyposensitivity (RH) is not well documented, and the significance of RH in biofeedback therapy (BFT) has not been evaluated. Thus, we aimed to assess the effect of BFT in constipated patients according to the presence of RH. METHODS: Five hundred and ninety constipated patients (238 males and 352 females) underwent anorectal physiologic assessments. Of these, anorectal manometry was performed before and after BFT in 244 patients (63 RH and 181 non-RH patients). RESULTS: The success rate of BFT was 56% in the RH and 61% in the non-RH group (p=0.604). The measurements of resting pressure, squeezing pressure, desire to defecate volume, urge to defecate volume, and maximum volume were decreased after BFT in the RH group (p<0.05), whereas only resting and squeezing pressures were decreased in the non-RH group (p<0.05). Among the RH group, individuals who responded to BFT showed decreased resting pressure, squeezing pressure, desire to defecate, urge to defecate, and maximum volume and increased balloon expulsion rate; among those who did not respond to BFT, only desire to defecate volume was improved. CONCLUSIONS: In constipated patients with RH, changes of anorectal manometric findings differed in comparison to patients without RH. The responses to BFT showed both anorectal muscle relaxation and restoration of rectal sensation.
Biofeedback, Psychology ; Constipation ; Humans ; Male ; Manometry ; Muscle Relaxation ; Rectum ; Sensation

Purpose: This retrospective study compares higher-dose whole-brain radiotherapy (hdWBRT) with reduced-dose WBRT (rdWBRT) in terms of clinical efficacy and toxicity profile in patients treated for primary central nervous system lymphoma (PCNSL). Materials and Methods: Radiotherapy followed by high-dose methotrexate (HD-MTX)-based chemotherapy was administered to immunocompetent patients with histologically confirmed PCNSL between 2000 and 2016. Response to chemotherapy was taken into account when prescribing the radiation dose to the whole brain and primary tumor bed. The whole brain dose was ≤23.4 Gy for rdWBRT (n = 20) and >23.4 Gy for hdWBRT (n = 68). Patients manifesting cognitive disturbance, memory impairment and dysarthria were considered to have neurotoxicity. A median follow-up was 3.62 years. Results: The 3-year overall survival (OS) and progression-free survival (PFS) were 70.0% and 48.9% with rdWBRT, and 63.2% and 43.2% with hdWBRT. The 3-year OS and PFS among patients with partial response (n = 45) after chemotherapy were 77.8% and 53.3% with rdWBRT, and 58.3% and 45.8% with hdWBRT (p > 0.05). Among patients with complete response achieved during follow-up, the 3-year freedom from neurotoxicity (FFNT) rate was 94.1% with rdWBRT and 62.4% with hdWBRT. Among patients aged ≥60 years, the 3-year FFNT rate was 87.5% with rdWBRT and 39.1% with hdWBRT (p = 0.49). Neurotoxicity was not observed after rdWBRT in patients aged below 60 years. Conclusion rdWBRT with tumor bed boost combined with upfront HD-MTX is less neurotoxic and results in effective survival as higher-dose radiotherapy even in partial response after chemotherapy.

OBJECTIVES: The purpose of this study is to find the influential clinical and physical characteristics which affect apnea-hypopnea index (AHI) in suspected obstructive sleep apnea (OSA) patients. METHODS: We evaluated the comprehensive factors including sleep related symptoms, clinical scales, medical history, substance use, and anthropometric data of the 119 participants who complained of the symptoms of OSA. All the participants underwent attended-full night laboratory polysomnography. The correlation and multiple regression analysis were conducted to find the influential and predictive factors of AHI. RESULTS: A multiple linear regression model 1 showed that higher AHI was associated with higher body mass index (BMI)(p < 0.001) and higher frequency of observed apnea (p = 0.002). In multiple linear regression model 2, AHI was associated with higher BMI (p < 0.001) and loudness of snoring (p = 0.018). CONCLUSIONS: The present preliminary results suggest that BMI and observed apnea are most influential factors that affect AHI in suspected OSA patients. In the future study we will design the prediction formula for the OSA and AHI, which is useful in the clinical medical field.
Apnea ; Body Mass Index ; Humans ; Linear Models ; Polysomnography ; Sleep Apnea, Obstructive ; Snoring ; Weights and Measures