ABSTRACT
Pneumomediastinum (PM) or mediastinal emphysema is defined as the presence of free air around mediastinal structures. Spontaneous (or atraumatic) pneumomediastinum (SPM) is a rare complication during pregnancy. Primary or spontaneous PM can arise due to increased intra-alveolar pressure. Secondary PM is due to direct trauma, intrathoracic infections or violation of the aerodigestive track. This case report describes a pregnant woman newly diagnosed with diabetes presenting with an SPM due to vigorously vomiting and Kussmaul's breathing caused by diabetic ketoacidosis. Appropriate management of SPM and its underlying cause is required to reduce the risks for both mother and child.
ABSTRACT
We present a family of North European extraction referred for a refractory non iron depleted microcytic anemia. The proband, a 36 year-old male, presented with chronic borderline anemia and microcytic hypochromic parameters. No abnormal hemoglobin (Hb) fractions were observed on high performance liquid chromatography (HPLC) or on alkaline electrophoresis. Gap-polymerase chain reaction (gap-PCR) excluded the seven common alpha-thalassemia (thal) deletion defects. However, the beta/alpha-globin chain synthesis ratio measured in vitro was unbalanced, indicating a reduced expression of the alpha-globin genes. Direct sequencing of the alpha-globin genes revealed heterozygosity for a T --> A transversion at the IVS-II-2 position of the alpha2 gene. This is the first IVS-II splice donor site mutation described on the alpha2-globin gene.
