This case report details a 23-year-old female with Down syndrome who suffered from acute respiratory failure due to severe obstructive sleep apnea syndrome and accompanying pulmonary arterial hypertension (PAH). The patient presented with obesity, adenotonsillar hypertrophy, and craniofacial anomalies commonly seen in Down syndrome, predisposing her to sleep-disordered breathing. Upon intensive care unit admission, she exhibited cardiomegaly, bilateral pulmonary edema, and right ventricular dysfunction. Polysomnography revealed severe sleep apnea with an apnea-hypopnea index of 108.7/hr. Treatment modalities included noninvasive positive pressure ventilation, diuretics, antibiotics, and positive airway pressure (PAP) devices to manage hypercapnia, pulmonary edema, and sleep apnea. PAH, a recognized complication of untreated sleep apnea, contributed to right ventricular dysfunction. A multidisciplinary approach was vital, with long-term management centered on continuous PAP therapy and comprehensive obesity management. This case underscores the intricate interplay between Down syndrome, sleep apnea, and PAH, highlighting the significance of early recognition and coordinated intervention in individuals with Down syndrome to enhance overall outcomes and quality of life.

This case report details a 23-year-old female with Down syndrome who suffered from acute respiratory failure due to severe obstructive sleep apnea syndrome and accompanying pulmonary arterial hypertension (PAH). The patient presented with obesity, adenotonsillar hypertrophy, and craniofacial anomalies commonly seen in Down syndrome, predisposing her to sleep-disordered breathing. Upon intensive care unit admission, she exhibited cardiomegaly, bilateral pulmonary edema, and right ventricular dysfunction. Polysomnography revealed severe sleep apnea with an apnea-hypopnea index of 108.7/hr. Treatment modalities included noninvasive positive pressure ventilation, diuretics, antibiotics, and positive airway pressure (PAP) devices to manage hypercapnia, pulmonary edema, and sleep apnea. PAH, a recognized complication of untreated sleep apnea, contributed to right ventricular dysfunction. A multidisciplinary approach was vital, with long-term management centered on continuous PAP therapy and comprehensive obesity management. This case underscores the intricate interplay between Down syndrome, sleep apnea, and PAH, highlighting the significance of early recognition and coordinated intervention in individuals with Down syndrome to enhance overall outcomes and quality of life.

This case report details a 23-year-old female with Down syndrome who suffered from acute respiratory failure due to severe obstructive sleep apnea syndrome and accompanying pulmonary arterial hypertension (PAH). The patient presented with obesity, adenotonsillar hypertrophy, and craniofacial anomalies commonly seen in Down syndrome, predisposing her to sleep-disordered breathing. Upon intensive care unit admission, she exhibited cardiomegaly, bilateral pulmonary edema, and right ventricular dysfunction. Polysomnography revealed severe sleep apnea with an apnea-hypopnea index of 108.7/hr. Treatment modalities included noninvasive positive pressure ventilation, diuretics, antibiotics, and positive airway pressure (PAP) devices to manage hypercapnia, pulmonary edema, and sleep apnea. PAH, a recognized complication of untreated sleep apnea, contributed to right ventricular dysfunction. A multidisciplinary approach was vital, with long-term management centered on continuous PAP therapy and comprehensive obesity management. This case underscores the intricate interplay between Down syndrome, sleep apnea, and PAH, highlighting the significance of early recognition and coordinated intervention in individuals with Down syndrome to enhance overall outcomes and quality of life.

Background: We previously developed the Korean Calcium Assessment Tool (KCAT) for assessing the intake of calcium and vitamin D in Korean women. However, based on the Korea National Health and Nutrition Examination Survey (KNHANES) VI and VII (2013–2018), major food sources for calcium and vitamin D have changed, and the National Standard Food Composition database was updated. Therefore, the present study aimed to update the KCAT and validate the Updated KCAT. Methods: A total of 285 women aged >19 years were asked to complete questionnaires of the KCAT and the Updated KCAT. Results: Calcium intake did not differ significantly between the KCAT (566±245 mg/day) and the Updated KCAT (569±248 mg/day; P=0.343). A correlation coefficient of 0.99 indicated a positive correlation on calcium intake between the KCAT and the Updated KCAT, with an almost perfect agreement by Cohen’s κ coefficients (0.95). Vitamin D intake assessed by the Updated KCAT was significantly higher than that assessed by the KCAT, which was positively correlated with a moderate agreement measured by Cohen’s κ coefficients (0.41). Conclusions The present study demonstrated that the Updated KCAT was a valid tool for the rapid evaluation of calcium and vitamin D intake for Korean women.

We present BioSubroutine, an open depository server that automatically categorizes various subroutines frequently used in bioinformatics research. We processed a large bioinformatics subroutine library called Bio.pl that was the first Bioperl subroutine library built in 1995. Over 1000 subroutines were processed automatically and an HTML interface has been created. BioSubroutine can accept new subroutines and algorithms from any such subroutine library, as well as provide interactive user forms. The subroutines are stored in an SQL database for quick searching and accessing. BioSubroutine is an open access project under the BioLicense license scheme.
Computational Biology* ; Licensure

No abstract available.
Diagnosis* ; Humans ; Intellectual Disability* ; Multiplex Polymerase Chain Reaction* ; Smith-Magenis Syndrome*

No abstract available.
Autoimmune Diseases ; B-Lymphocytes ; Bone Marrow ; Lymphoma, B-Cell

Antigens, Nuclear ; Arthritis, Rheumatoid ; Autoantibodies ; Diagnosis ; Enzyme-Linked Immunosorbent Assay ; Fluorescence ; Humans ; Immunoenzyme Techniques ; Lupus Erythematosus, Systemic ; Rheumatic Diseases ; Sensitivity and Specificity