A case of ROHHAD (rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation) syndrome in an 11-year-old girl

Rapid-onset obesity with hypoventilation, hypothalamic, and autonomic dysregulation (ROHHAD) syndrome is a rare disease characterized by rapid progression of obesity and central hypoventilation with autonomic and endocrine dysregulation. There is no gold-standard diagnostic method for ROHHAD syndrome; it is diagnosed based on a years-long clinical course. For this reason, diagnosis of ROHHAD syndrome is often delayed. In particular, ROHHAD has a high mortality rate due to cardiopulmonary arrest when quick diagnosis and appropriate intervention of central sleep apnea are not timely. We report a case in which an 11-year-old girl with central sleep apnea was diagnosed with ROHHAD syndrome: the clinical course with early breathing intervention using noninvasive positive pressure ventilation. We emphasize the importance of respiratory interventions in the clinical course of ROHHAD syndrome.

Co-existence of relapsing polychondritis and Crohn disease treated successfully with infliximab / 영남의대학술지

Relapsing polychondritis (RP) is a rare, progressive immune-mediated systemic inflammatory disease of unknown etiology, characterized by recurrent inflammation of cartilaginous structures. Approximately 30% of RP cases are associated with other autoimmune diseases. However, the co-occurrence of RP and Crohn disease (CD) has rarely been reported. Herein, we present a 35-year-old woman diagnosed with RP and CD, who was refractory to initial conventional medications, including azathioprine and glucocorticoid, but who subsequently responded to infliximab (IFX). For both diseases, remission was sustained with IFX. There has been no previous report regarding the successful treatment of co-existing RP and CD with IFX.

The quality of non-alcoholic fatty liver disease information resources for patients on the internet in Korea

Background/Aims@#Many patients uses the internet to obtain information about their diseases. However, there is increasing concern regarding the quality of internet information. Thus, we aimed to systematically evaluate the quality of websites containing educational information about non-alcoholic fatty liver disease (NAFLD) in Korea. @*Methods@#Naver, Daum, and Google search engines were searched using the term “non-alcoholic fatty liver disease” in Korean. Two reviewers independently evaluated website quality using the quality evaluation instrument (QEI), which awarded websites scores for specific information on various aspects of NAFLD, as well as a five-point Likert scale (1–5), the DISCERN instrument, and a global quality scale (GQS). @*Results@#Forty-seven websites met the inclusion criteria. We found that the quality of the internet information about NAFLD is generally poor. The mean QEI score with standard deviation was 10.31 ± 5.09 (range, 4 to 22), with only 17% of websites scoring higher than 10 points. The median GQS of the websites was 2.0, with no website achieving a score of 4 or 5. The QEI score was highly associated with the GQS score (r = 0.74, p < 0.01). For each DISCERN question from question 1 to question 15, the mean score was less than 3. @*Conclusions@#Overall, the internet health information for patients regarding NAFLD is poor and in need of much improvement. There is a need for institutional support, qualitative regulation of internet information, and development of an accreditation system to provide patients with internet health information of appropriate quality.

Risk factors associated with provoked pulmonary embolism

BACKGROUND/AIMS: This study aimed to investigate the risk factors associated with provoked pulmonary embolism (PE). METHODS: This retrospective cohort study included 237 patients with PE. Patients that had transient risk factors at diagnosis were classified as having provoked PE, with the remaining patients being classified as having unprovoked PE. The baseline clinical characteristics and factors associated with coagulation were compared. We evaluated the risk factors associated with provoked PE. RESULTS: Of the 237 PE patients, 73 (30.8%) had provoked PE. The rate of respiratory failure and infection, as well as the disseminated intravascular coagulation score and ratio of right ventricular diameter to left ventricular diameter were significantly higher in patients with provoked PE than in those with unprovoked PE. The protein and activity levels associated with coagulation, including protein C antigen, protein S antigen, protein S activity, anti-thrombin III antigen, and factor VIII, were significantly lower in patients with provoked PE than in those with unprovoked PE. Multivariate analysis showed that infection (odds ratio [OR], 3.2; 95% confidence interval [CI], 1.4 to 7.4) and protein S activity (OR, 0.97; 95% CI, 0.95 to 0.99) were significantly associated with provoked PE. CONCLUSIONS: Protein S activity and presence of infection were important factors associated with provoked PE. We should pay attention to the presence of infection in patients with provoked PE.

Rhabdomyolysis with Acute Kidney Injury Successfully Treated with External Cooling / 계명의대학술지

Hyperthermia can cause severe complications such as rhabdomyolysis, which can induce acute kidney injury. Normal thermoregulation can be disturbed by high fever, and maintenance of a normal body temperature by external cooling can reduce oxygen consumption, and increase vascular tone. Several studies have been conducted to determine the effectiveness of external cooling in treat rhabdomyolysis or renal failure. We report a case of rhabdomyolysis leading to multiple organ dysfunction, including renal failure. The use of an external cooling device achieved fever control and successfully treated rhabdomyolysis and renal failure.

Does the Mean Arterial Pressure Influence Mortality Rate in Patients with Acute Hypoxemic Respiratory Failure under Mechanical Ventilation? / 결핵및호흡기질환

BACKGROUND: In sepsis patients, target mean arterial pressures (MAPs) greater than 65 mm Hg are recommended. However, there is no such recommendation for patients receiving mechanical ventilation. We aimed to evaluate the influence of MAP over the first 24 hours after intensive care unit (ICU) admission on the mortality rate at 60 days post-admission in patients showing acute hypoxemic respiratory failure under mechanical ventilation. METHODS: This prospective, multicenter study included 22 ICUs and compared the mortality and clinical outcomes in patients showing acute hypoxemic respiratory failure with high (75-90 mm Hg) and low (65-74.9 mm Hg) MAPs over the first 24 hours of admission to the ICU. RESULTS: Of the 844 patients with acute hypoxemic respiratory failure, 338 had a sustained MAP of 65-90 mm Hg over the first 24 hours of admission to the ICU. At 60 days, the mortality rates in the low (26.2%) and high (24.5%) MAP groups were not significantly different. The ICU days, hospital days, and 60-day mortality rate did not differ between the groups. CONCLUSION: In the first 24 hours of ICU admission, MAP range between 65 and 90 mm Hg in patients with acute hypoxemic respiratory failure under mechanical ventilation may not cause significantly differences in 60-day mortality.

Erratum: Does the Mean Arterial Pressure Influence Mortality Rate in Patients with Acute Hypoxemic Respiratory Failure under Mechanical Ventilation? / 결핵및호흡기질환

The published article includes an error in Figure 1.

Isolated Cervical Lymph Node Sarcoidosis Presenting in an Asymptomatic Neck Mass: A Case Report / 결핵및호흡기질환

Sarcoidosis, a systemic granulomatous disease of unknown etiology. The presentation of sarcoidal granuloma in neck nodes without typical manifestations of systemic sarcoidosis is difficult to diagnose. We describe the case of a 37-year-old woman with an increasing mass on the right side of neck. The excisional biopsy from the neck mass showed noncaseating epithelioid cell granuloma of the lymph nodes. No evidence of mycobacterial or fungal infection was noted. Thoracic evaluations did not show enlargement of mediastinal lymph nodes or parenchymal abnormalities. Immunohistochemistry showed abundant expression of tumor necrosis factor-alpha in the granuloma. However, transforming growth factor-beta was not expressed, although interleukin-1beta was focally expressed. These immunohistochemical findings supported characterization of the granuloma and the diagnosis of sarcoidosis. Sarcoidosis can present with cervical lymph node enlargement without mediastinal or lung abnormality. Immunohistochemistry may support the diagnosis of sarcoidosis and characterization of granuloma.

Feasibility of ultrasound-guided posterior approach for interscalene catheter placement during arthroscopic shoulder surgery / 대한마취과학회지

BACKGROUND: Continuous interscalene block has been known to improve postoperative analgesia after arthroscopic shoulder surgery. This was a prospective study investigating the ultrasound-guided posterior approach for placement of an interscalene catheter, clinical efficacy and complications after placement of the catheter. METHODS: Forty-two patients undergoing elective arthroscopic shoulder surgery were included in this study and an interscalene catheter was inserted under the guidance of ultrasound with posterior approach. With the inplane approach, the 17 G Tuohy needle was advanced until the tip was placed between the C5 and C6 nerve roots. After a bolus injection of 20 ml of 0.2% ropivacaine, a catheter was threaded and secured. A continuous infusion of ropivacaine 0.2% 4 ml/hr with patient-controlled 5 ml boluses every hour was used over 2 days. Difficulties in placement of the catheter, clinical efficacy of analgesia and complications were recorded. All patients were monitored for 48 hours and examined by the surgeon for complications within 2 weeks of hospital discharge. RESULTS: Easy placement of the catheter was achieved in 100% of the patients and the success rate of catheter placement during the 48 hr period was 92.9%. Postoperative analgesia was effective in 88.1% of the patients in the post anesthetic care unit. The major complications included nausea (7.1%), vomiting (4.8%), dyspnea (4.8%) and unintended vascular punctures (2.4%). Other complications such as neurologic deficits and local infection around the puncture site did not occur. CONCLUSIONS: The ultrasound-guided interscalene block with a posterior approach is associated with a success high rate in placement of the interscalene catheter and a low rate of complications. However, the small sample size limits us to draw definite conclusions. Therefore, a well-designed randomized controlled trial is required to confirm our preliminary study.

Localization Patterns of Cytokeratin 1, 14 and PAX 9 in Mouse Embryonic Tongue Development / 체질인류학회지

Epithelial differentiation and morphogenesis in skin and oral mucosa were elucidated using various experimental tools. However, tongue epithelial differentiation has not been examined properly yet. In this study, we identified the relationship between morphological changes and localizations of differentiation markers, such as cytokeratins and PAX 9 in mice embryonic tongue development. Protective barrier formation and localization pattern of cytokeratins in tongue epithelium were examined with toluidine blue staining and immunohistochemistry respectively. Localization patterns of PAX 9 and Cytokeratin 14 were coincided during tongue epithelium development. In addition, compared with Ki67 localizations, marker for cell proliferation, localization patterns of PAX 9 and Cytokeratin 14 would suggest that these factors would involve in tongue barrier formation through cell proliferation. Based on these results, tongue epithelial differentiation would begin at E14 with the specific localizations of PAX 9 and Cytokeratin 14 prior to protective barrier formation then Cytokeratin 1, keratinization marker, would involve in protective barrier and filiform papillae formations.