Monosomy 21 is a rare chromosomal abnormality, with only nine cases reported in the literature. Affected infants display multiple dysmorphic features as well as skeletal, ocular, pulmonary, cardiac, renal, and genitourinary abnormalities. All monosomies are lethal except monosomy 21, but not all monosomy 21 fetuses survive to term. This report describes the echocardiographic findings and the congenital heart defects associated with the third case of molecularly confirmed full monosomy 21 in the literature. The cardiac defects included a mildly hypoplastic and hypertrophied left ventricle, a large ostium secundum atrial septal defect, a small anterior muscular ventricular septal defect, an interrupted inferior vena cava with azygos continuation, a parachute mitral valve, a bicuspid aortic valve, and a tortuous descending aorta. It also is the first description of a left pulmonary artery aneurysm and decreased left ventricular function as a component in the spectrum of defects found in full monosomy 21.
Background/Aims:
Patient-reported outcomes (PRO) are key aspects in the management of inflammatory bowel disease (IBD). This study aims to evaluate factors associated with adverse PRO, including modifiable social constructs of maladaptive coping and self-efficacy as well as physician–patient concordance on PRO.
Patients and Methods:
This cross-sectional study was performed in patients with Crohn's disease (CD) or ulcerative colitis (UC) from September 2015 to March 2016. Validated questionnaires were used to assess quality of life (Short IBD Questionnaire), disability (IBD disability index), productivity (work productivity and activity impairment questionnaire), anxiety/depression (Hospital Anxiety and Depression Scale), coping strategies [Brief Coping Operations Preference Enquiry (Brief COPE)], and self-efficacy (General Self-Efficacy Scale). Independent physician assessment was used to compare concordance with patients.
Results:
In all, 207 (CD: 144 and UC: 63) patients, with median age of 39 years, were included, with 42.5% males. Significant proportion of patients reported moderate/severe impairment of disability (30.5%), quality of life (29.4%), productivity (52.4%), anxiety (32.9%) and depression (23.3%). Disease activity and maladaptive coping were independently associated with unfavourable PRO, whereas self-efficacy had a positive effect in multivariate analysis. Physicians could accurately identify the magnitude of PRO impairment in standard clinical settings (
r
= 0.59–0.65,
P
< 0.001).
Conclusion:
Disease activity and modifiable psychological constructs are associated with unfavorable PRO in patients with IBD. These factors could assist with identifying high-risk patients, many of whom may benefit from targeted interventions to improve health outcomes.
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