Severe craniosynostosis in an infant with deletion 22q11.2 syndrome

We report a male infant with 22q11.2 deletion syndrome and very severe multi‐sutural craniosynostosis associated with increased intracranial pressure, marked displacement of brain structures, and extensive erosion of the skull. While uni‐ or bi‐sultural craniosynostosis is a recognized (though relatively uncommon) feature of 22q11 deletion syndrome, a severe multi‐sutural presentation of this nature has never been reported. SNP Microarray was otherwise normal and the patient did not have common mutations in FGFR2, FGFR3, or TWIST associated with craniosynostosis. While markedly variable expressivity is an acknowledged feature of deletion 22q11 syndrome, herein we also consider and discuss the possibility that this infant may have been additionally affected with an undiagnosed single gene disorder. © 2012 Wiley Periodicals, Inc.     

Total intravenous anesthesia vs inhaled anesthetic for intraoperative visualization during endoscopic sinus surgery: a double blind randomized controlled trial

Background

Bleeding during endoscopic sinus surgery (ESS) can impair visualization and delay surgical progress. The role that anesthetic technique may have on the quality of surgical field during ESS has been previously studied. However, meta‐analyses have deemed the current literature inconclusive and lacking methodological consistency. This study was designed with these critiques in mind to assess the effect of total intravenous anesthesia (TIVA) vs inhaled anesthetic on the quality of the surgical field during ESS.

Methods

This study was a double‐blind, randomized, controlled trial of 30 patients of American Society of Anesthesiologists (ASA) class 1 or 2 undergoing bilateral ESS for the primary diagnosis of chronic rhinosinusitis. In addition to standard techniques to minimize blood loss, study patients were randomized to maintenance anesthesia with intravenous propofol or inhaled desflurane. Anesthetic depth was standardized using bispectral index (BIS). The primary outcome measured was the Wormald grading scale to assess the endoscopic surgical field.

Results

The use of TIVA was associated with a statistically significant reduction in mean Wormald score compared to desflurane (4.21 vs 5.53, p = 0.024). Mean Boezaart score was also lower in the TIVA arm (2.18 vs 2.76, p = 0.034). Experimental groups were homogeneous in all compared baseline characteristics. Secondary outcomes including surgical duration, time to extubation, and estimated blood loss were not found to be statistically significant between experimental groups.

Conclusion

Even with all other factors implemented to optimize the surgical field, utilization of TIVA vs inhaled anesthetic still resulted in a statistically significant improvement in surgical field during ESS.

     

Proportion of Patients With Hypertension Resolution Following Adrenalectomy for Primary Aldosteronism: A Systematic Review and Meta‐Analysis

Unilateral primary aldosteronism (PA) is often treated with adrenalectomy, but hypertension resolution rates are variable. A valid estimate of the postoperative normotension rate is necessary to inform the utility of PA testing and treatment. The authors searched MEDLINE In‐Process & Other Non‐Indexed Citations, Embase, and Cochrane Central Register of Controlled Trials. Prospective adult cohort studies with surgically treated PA that reported resolution of hypertension without the aid of medications were included. Among 2620 abstracts identified by the search, 25 studies in the systematic review with data on 1685 patients were investigated. The pooled proportion of normotension following adrenalectomy was 52% (95% confidence interval, 0.44–0.60). Meta‐regression demonstrated a significant negative association between length of follow‐up and proportion of normotension, with normotension dropping by 6.7% per year of follow‐up (coefficient −0.006; 95% confidence interval, −0.01 to 0.002). Overall, approximately half of the patients experienced hypertension resolution, although this outcome may not be durable in all patients.

Primary aldosteronism (PA) is defined as a form of drug‐resistant and potentially curable hypertension with evidence of excess aldosterone secretion, suppressed plasma renin activity, and often hypokalemia.¹ Initially thought to be rare, PA is the leading cause of secondary hypertension. With increased screening and detection, the incidence of PA among hypertensive patients is currently reported at approximately 10%.² This syndrome has multiple etiologies, including inherited gene mutations,³ development of autoantibodies,⁴ and ectopic aberrant functional adrenal receptors.⁵ The clinical management is guided by the definition of unilateral vs bilateral adrenal involvement. With rare exception, adrenalectomy is reserved for unilateral adrenal disease.The proportion “cured” following adrenalectomy for patients with PA has been reported to range from 0% to 100%.⁶ However, “cure” is variably defined in the literature. These definitions include normal blood pressure (BP), normal BP without aid of antihypertensive medications, a reduced need for antihypertensive medications, and biochemical normalization, among others. Biochemical normalization of the aldosterone‐renin ratio is likely a necessary part of a definition of “cure.” At this time, however, there is no global consensus on the interpretation of postoperative aldosterone‐renin ratios with the existence of variable assays and cutoffs for even initial diagnosis. Therefore, from the patient''s perspective and in the absence of patient‐level clinical end point data, attainment of medication‐free normotension may be the most uniform and recognizable health benefit of surgical PA treatment. Individually reported results of long‐term resolution of hypertension without antihypertensive medications are between 30% and 70% following adrenalectomy.⁷ The primary aim of this systematic review and meta‐analysis was to determine the proportion of hypertension resolution without the aid of antihypertensive agents following adrenalectomy in patients with PA. To our knowledge, no previous meta‐analysis has been performed. A secondary objective was to identify patient‐level factors reported to be associated with hypertension resolution in patients managed with adrenalectomy.     

Whole body MRI: Improved lesion detection and characterization with diffusion weighted techniques

Diffusion‐weighted imaging (DWI) is an established functional imaging technique that interrogates the delicate balance of water movement at the cellular level. Technological advances enable this technique to be applied to whole‐body MRI. Theory, b‐value selection, common artifacts and target to background for optimized viewing will be reviewed for applications in the neck, chest, abdomen, and pelvis. Whole‐body imaging with DWI allows novel applications of MRI to aid in evaluation of conditions such as multiple myeloma, lymphoma, and skeletal metastases, while the quantitative nature of this technique permits evaluation of response to therapy. Persisting signal at high b‐values from restricted hypercellular tissue and viscous fluid also permits applications of DWI beyond oncologic imaging. DWI, when used in conjunction with routine imaging, can assist in detecting hemorrhagic degradation products, infection/abscess, and inflammation in colitis, while aiding with discrimination of free fluid and empyema, while limiting the need for intravenous contrast. DWI in conjunction with routine anatomic images provides a platform to improve lesion detection and characterization with findings rivaling other combined anatomic and functional imaging techniques, with the added benefit of no ionizing radiation. J. Magn. Reson. Imaging 2013;38:253–268. © 2013 Wiley Periodicals, Inc.