Case 319: Multisystemic Smooth Muscle Dysfunction Syndrome.

HISTORY: A 7-year-old Chinese girl presented to a local hospital with a 5-day history of progressive right-sided hemiplegia, expressive aphasia, mild bulbar palsy, and reduced general responsiveness. At presentation, her Glasgow Coma Scale was 11/15 (E4 V1M6). Notably, she had two strokelike episodes approximately 7 and 3 months prior to the current episode, with headache, reduced movement, and numbness in the left hand. She also had an extensive medical history at a young age, including congenital mydriasis, patent ductus arteriosus with ligation, dysautonomia, low blood pressure, hypotonic bladder requiring intermittent catheterization, poor bowel transit, and gallstones. Her immunization record was up to date, and her development was otherwise unremarkable. Her parents and younger sibling were healthy. Her blood tests revealed a mildly increased venous lactate level at 2.3 mmol/L (normal range, 0.7-2.1 mmol/L), without acidosis. Results of a coagulopathy work-up (clotting profile and protein C, protein S, antithrombin 3, and fibrinogen levels) were normal. MRI and MR angiography of the brain were performed at presentation.

Case 319.

HISTORY: A 7-year-old Chinese girl presented to a local hospital with a 5-day history of progressive right-sided hemiplegia, expressive aphasia, mild bulbar palsy, and reduced general responsiveness. At presentation, her Glasgow Coma Scale was 11/15 (E4 V1M6). Notably, she had two strokelike episodes approximately 7 and 3 months prior to the current episode, with headache, reduced movement, and numbness in the left hand. She also had an extensive medical history at a young age, including congenital mydriasis, patent ductus arteriosus with ligation, dysautonomia, low blood pressure, hypotonic bladder requiring intermittent catheterization, poor bowel transit, and gallstones. Her immunization record was up to date, and her development was otherwise unremarkable. Her parents and younger sibling were healthy. Her blood tests revealed a mildly increased venous lactate level at 2.3 mmol/L (normal range, 0.7-2.1 mmol/L), without acidosis. Results of a coagulopathy work-up (clotting profile and protein C, protein S, antithrombin 3, and fibrinogen levels) were normal. MRI (Fig 1) and MR angiography of the brain (Fig 2) were performed at presentation.

Ruptured mycotic iliac artery aneurysm presenting as infected psoas haematoma and mimicking psoas abscess.

Pseudoaneurysm of the iliac arteries are rarely reported in the literature. Failure to identify the pathology may delay the necessary treatment, and potentially lead to high mortality. We report a case of ruptured mycotic iliac artery aneurysm in a 46-year-old man with newly diagnosed diabetes mellitus. Initial CT appearance mimicked psoas abscess. However, further CT showed features more suggestive of a psoas haematoma with heterogeneous hyperdensities within the lesion. A ruptured mycotic iliac artery aneurysm was diagnosed. Patient was urgently referred to the vascular team for endovascular stenting. Blood-stained purulent material was noted in the left psoas muscle intra-operatively. It was drained and sent for culture, which later yielded Salmonella Enteritidis sensitive to cefotaxime. We present this case to highlight the importance of reviewing any pre-contrast intramuscular hyperdensities which may suggest acute blood content, and raise suspicion of adjacent vascular pathologies.

Impact of Hyperoxia and Hypocapnia on Neurological Outcomes in Patients with Aneurysmal Subarachnoid Hemorrhage: A Retrospective Study.

In recent decades, there is increasing evidence suggesting that hyperoxia and hypocapnia are associated with poor outcomes in critically ill patients with cardiac arrest or traumatic brain injury. Yet, the impact of hyperoxia and hypocapnia on neurological outcome in patients with subarachnoid hemorrhage (SAH) has not been well studied. In the present study, we evaluated the impact of hyperoxia and hypocapnia on neurological outcomes in patients with aneurysmal SAH (aSAH). Patients with aSAH who were admitted to the intensive care unit (ICU) of a tertiary hospital in Hong Kong between January 2011 and December 2016 were retrospectively recruited. Patients' demographics, comorbidities, radiological findings, clinical grades of SAH, PO2, and PCO2 within 24 hours of ICU admission, and Glasgow Outcome Scale (GOS) at 3 months after admission were recorded. Patients with a GOS score of 3 or less were considered having poor neurological outcomes. Among the 244 patients with aSAH, 122 of them (50%) had poor neurological outcomes at 3 months. Early hyperoxia (PO2 > 200 mmHg) and hypercapnia (PCO2 > 45 mmHg) were more common among patients with poor neurological outcomes. Logistic regression analysis indicated that hyperoxia independently predicted poor neurological outcomes (OR 3.788, 95% CI 1.131-12.690, P=0.031). Classification tree analysis revealed that hypocapnia was associated with poor neurological outcomes in patients who were less critically ill (APACHE < 50) and without concomitant intracranial hemorrhage (ICH) or intraventricular hemorrhage (IVH) (adjusted P=0.006, χ 2 = 7.452). These findings suggested that hyperoxia and hypocapnia may be associated with poor neurological outcomes in patients with aSAH.

CYP2C19 genotype has a major influence on labetalol pharmacokinetics in healthy male Chinese subjects.

PURPOSE: The pharmacokinetics (PK) of labetalol show wide inter-subject variability, but the genetic causes for this are largely undetermined. This study was performed to examine whether common polymorphisms in UGT1A1, UGT2B7, CYP2C19 and ABCB1 affect the PK of labetalol. METHODS: The PK of labetalol were determined in 37 Chinese healthy male subjects who took a single oral dose of 200 mg labetalol. Plasma concentrations of labetalol were determined by a high-performance liquid chromatographic method. Subjects were genotyped for the CYP2C19 2 and 3, UGT1A1 6, 28 and 60, UGT2B7 2 and ABCB1 1236C>T, 2677G>T/A and 3435C>T polymorphisms. RESULTS: Subjects with the CYP2C19 2/ 2 genotype had a higher peak concentration (255.5 ± 80.1 vs. 156.0 ± 66.3 ng/mL; P < 0.05) and area under the concentration-time curve (AUC0-∞; 1,473.7 ± 493.6 vs. 502.8 ± 176.1 ng[Symbol: see text]h/mL; P < 0.001) than subjects with 60 or 28, and UGT2B7 2 did not result in a significant effect. Subjects with ABCB1 2677TA or TT or ABCB1 3435TT genotypes had higher AUC0-∞ and lower total clearance than the wild-types (P < 0.05), but this appeared to be related to the distribution of CYP2C19 genotypes. The CYP2C19 genotype appeared to be the only predictor of labetalol concentrations, accounting for approximately 60 % of the total variance in the AUC0-∞. CONCLUSION: Our results suggest that the PK of labetalol are significantly affected by the common CYP2C19 polymorphisms in individuals of Chinese ethnicity. Future larger studies are needed to evaluate the effect of CYP2C19 and UGT1A1 polymorphisms on the PK of labetalol stereoisomers and the pharmacodynamic effects.