RESUMEN
Homocystinuria (HCU) is a rare autosomal recessive inherited disorder usually diagnosed in childhood. It is characterized by a deficiency of the enzyme that converts homocysteine to cystathionine. The accumulation of homocysteine leads to abnormalities in the ocular, skeletal, cardiovascular, and central nervous systems. HCU shares several clinical features with Marfan syndrome; however, respiratory system involvement in HCU is uncommon and rarely reported. Bronchiectasis has been previously reported in a few cases of HCU, and it was attributed mainly to fibrillin deficiency. This case describes a young girl diagnosed with classical HCU since childhood who presented with a chronic productive cough and was initially misdiagnosed as bronchial Asthma. However, upon further evaluation, she was eventually diagnosed with tracheobronchomegaly (TBM), or Mounier-Kuhn Syndrome, and bronchiectasis based on the computed tomography (CT) scan of chest findings. To our knowledge, this is the first reported case of TBM and bronchiectasis in HCU. We believe that fibrillin degeneration may be the key to understanding this unusual association in HCU.
RESUMEN
OBJECTIVES: To measure the frequency and identify risk factors of depression and anxiety among diabetic and hypertensive primary health care (PHC) patients. Also to assess whether patients' perception of their chronic diseases control and sleep disturbance could serve as screening tools for depression and anxiety. Methods: This cross-sectional study of 368 PHC patients was conducted in AlKhobar city, Kingdom of Saudi Arabia between April and May 2015. Patient Health Questionnaire-9 and Generalized Anxiety Disorder-7 were used as diagnostic tools for depression and anxiety. Results: Frequencies, cross-tabulations and logistic regression tests were performed. Patient's perception of chronic diseases control was significantly associated with the presence of depression and anxiety, while it was not seen in the tested disease control (glycated hemoglobin less than 7% and blood pressure less than 140/90 mm Hg). Sleep disturbance has a high specificity (98.9%) in screening for depression. Overall prevalence of depression or anxiety was 57.3% and detected cases was 23%. Depression comprise 48.7% (39.8% mild, 7.1% moderate, 1.8% severe). Anxiety comprise 38.4% (25.1% mild, 8.8% moderate, 4.4% severe). Co-existence of both disorders was 29.5%. Sleep disturbance, weight change, and low income had an independent significant effect on depression and anxiety. Conclusion: Having no sleep disturbance can rule out 98.9% of depression and anxiety cases. Patient's feelings should be considered in chronic diseases health care plans. Depression or anxiety among diabetic and hypertensive patients have a high morbidity, but with low detection rate.