Xp Microdeletion Syndrome Characterized by Pathognomonic Linear Skin Defects on the Head and Neck

Abstract: We describe a new case of a rare syndrome characterized by ocular abnormalities and pathognomonic linear skin defects. This syndrome is the result of an unbalanced translocation resulting in a deletion of the distal end of the short arm of the X chromosome. We report the thirteenth case and review the clinical and cytogenetic aspects of this disorder. In addition we discuss new findings pertaining to the histopathology of the skin lesions.     

Coronary vasoconstriction in vitro in the hearts of polyarthritic rats: effectiveness of in vivo treatment with the endothelin receptor antagonist SB 209670.

Here we demonstrate that perfused hearts removed from polyarthritic rats develop a pronounced coronary vasoconstriction ex vivo. This vasoconstriction is almost entirely blocked by in vivo pretreatment of the rats with the endothelin receptor antagonist, SB 209670. Thus, inflammatory states may be associated with an increased activity of the endothelin system, leading to vascular dysfunction and vasoconstriction.     

Aquatically acquired Aeromonas hydrophila wound infection. A report of 3 cases

The occurrence of Aeromonas hydrophila wound infections in healthy hosts after water-associated injury is being reported more frequently. This paper reports our experience with 3 such cases and outlines the importance of recognising the association between a water-related injury and this organism.     

Harvey Cushing's postoperative sketches of pediatric brain tumors

Harvey Cushing was a man of many talents. Not only was he a premier surgeon and scientist, but a prolific author and artist as well. In this paper, we present two postoperative sketches of pediatric brain tumors drawn by Dr. Cushing. These sketches are representative of drawings which accompany many of his operative notes at the Peter Bent Brigham Hospital. About 25% of Cushing's surgical sketches depict operations performed on children. The most commonly drawn childhood tumors were craniopharyngiomas and gliomas of the brain stem and cerebellum. These drawings reveal how Cushing maintained detailed records of his surgical experience. It is clearly evident from these records that Dr. Cushing gained substantial experience in the treatment of pediatric brain tumors.     

Methamphetamine dependence increases risk of neuropsychological impairment in HIV infected persons.

Both HIV infection and methamphetamine dependence can be associated with brain dysfunction. Little is known, however, about the cognitive effects of concurrent HIV infection and methamphetamine dependence. The present study included 200 participants in 4 groups: HIV infected/methamphetamine dependent (HIV+/METH+), HIV negative/methamphetamine dependent (HIV-/METH+), HIV infected/methamphetamine nondependent (HIV+/METH-), and HIV negative/methamphetamine nondependent (HIV-/METH-). Study groups were comparable for age, education, and ethnicity, although the HIV-/METH- group had significantly more females. A comprehensive, demographically corrected neuropsychological battery was administered yielding a global performance score and scores for seven neurobehavioral domains. Rates of neuropsychological impairment were determined by cutoff scores derived from performances of a separate control group and validated with larger samples of HIV+ and HIV- participants from an independent cohort. Rates of global neuropsychological impairment were higher in the HIV+/METH+ (58%), HIV-/METH+ (40%) and HIV+/METH- (38%) groups compared to the HIV-/METH- (18%) group. Nonparametric analyses revealed a significant monotonic trend for global cognitive status across groups, with least impairment in the control group and highest prevalence of impairment in the group with concurrent HIV infection and methamphetamine dependence. The results indicate that HIV infection and methamphetamine dependence are each associated with neuropsychological deficits, and suggest that these factors in combination are associated with additive deleterious cognitive effects. This additivity may reflect common pathways to neural injury involving both cytotoxic and apoptotic mechanisms.     

Wolff-Parkinson-White syndrome: illustrative case and brief review

The Wolff-Parkinson-White syndrome (WPWS) is a pre-excitation syndrome manifested on the 12-lead ECG by a short PR interval (less than .12 sec), a prolonged QRS interval (greater than .10 sec), and an initial slurring of the QRS complex called a delta wave. The anatomical etiology is the presence of accessory atrioventricular conduction fibers called the Kent bundle. Patients with the WPWS may present to the emergency department with a wide spectrum of symptoms, ranging from mild palpitations, to unstable tachydysrhythmias and sudden cardiac death. WPWS should be suspected in any patient presenting with a tachydysrhythmia with a rate exceeding 200/minute. Cardioversion is indicated in the unstable patient. It is impossible to predict the effect of any particular drug without prior electrophysiologic studies in a patient with WPWS. Procainamide is the safest drug for the stable WPWS patient with a tachydysrhythmia, including wide-complex and irregular rhythms. Verapamil is a useful drug in narrow-complex, regular rhythms, although complications have been reported. Atrial fibrillation may be difficult to diagnose in a very rapid tachycardia, and the use of verapamil in WPWS with atrial fibrillation is contraindicated. Electrophysiologic studies are indicated in the WPWS patient to maximize prophylactic therapy. An illustrative case as well as pathophysiology and management of WPWS are discussed.     

Evaluation and Treatment of Children with Primary Immune Deficiency in the Emergency Department

The potential for morbidity and mortality in patients who have PID with febrile and nonfebrile illness is extremely high. Familiarity with the clinical manifestations of PID and collaboration with a pediatric immunologist are prerequisites for optimal short-term care of these complex patients. Conservative management with empiric broad-spectrum antimicrobials, early and aggressive surgical debridement of abscesses, and admission at a tertiary pediatric care center are often indicated.