Fighting diagnostic confirmation bias: Cystic fibrosis, allergic bronchopulmonary aspergillus, or both?

As diagnostic algorithms for cystic fibrosis (CF) continue to evolve, education of general practitioners is essential to prevent delayed diagnosis of CF and allow prompt referral to CF centers. For patients suffering from allergic bronchopulmonary aspergillosis (ABPA), CF should be at the top of the differential diagnosis.

A rare CFTR mutation associated with severe disease progression in a 10-year-old Hispanic patient.

Cystic fibrosis is a life-shortening multisystem genetic disease. While readily tested, few tests analyze rare gene mutations prevalent among ethnic minorities. This case of a Hispanic child with a rare CF-causing c.233dupT mutation and severe disease emphasizes the need for broad CFTR mutation analyses and genotyping particularly in minority populations.

Evaluation of genetic counseling among cystic fibrosis carriers, Michigan Newborn Screening.

OBJECTIVE: A quality improvement (QI) strategy to improve the rate of genetic counseling (GC) services was initiated in cystic fibrosis (CF) care Center E in 2010. This statewide study was conducted to determine: (1) GC rates before and after implementation of the QI strategy at Center E; (2) characteristics associated with not receiving GC; and (3) topic areas addressed during GC. METHODS: The retrospective study included 1,097 CF carriers born from 2008 to 2011 identified through Michigan's Newborn Screening Program. Rate of GC services was determined for Center E and the other four CF centers before and after the QI change. Bivariate and multivariable logistic regression was used to determine associations between select characteristics and not receiving GC. Topic areas discussed during GC sessions were assessed using frequency tables. RESULTS: Rate of GC services in Center E increased from 23% in 2008-2010 to 91% in 2011, while at the other centers approximately 92% received GC services across those years. In 2008-2010, being seen at Center E and black race were significantly associated with increased likelihood of not receiving GC services in adjusted analyses. In 2011, neither characteristic was associated with receipt of GC. Of 16 target topic areas, all were discussed in 85% of GC sessions. CONCLUSIONS: Implementing a QI strategy of providing sweat test results at the GC appointment within Center E resulted in more CF carriers receiving comprehensive GC services. Center-specific procedure differences should be assessed to increase rate of GC services following a positive CF newborn screen.

A study of impurities in intermediates and 3,4-methylenedioxymethamphetamine (MDMA) samples produced via reductive amination routes.

Impurities found in various sources of precursors (sassafras oil, safrol, isosafrol, piperonal), intermediates (beta-nitroisosafrol, piperonylmethylketone (PMK)) and final product (3,4-methylenedioxymethamphetamine (MDMA)) are presented and discussed. Particular attention is paid to the chemical origin of each impurity found in the prepared samples. Impurity profiles of isosafrol, piperonal, and PMK samples obtained from industrial sources or from sassafras oil were first compared. Then PMK samples produced from isosafrol through isosafrol glycol or through beta-nitroisosafrol were compared. At last, attention was paid to the reductive amination of PMK to MDMA using different reductive agents. Possible use of this profiling method to determine the synthesis route is discussed for all products.

A versatile palladium-mediated three-component reaction for the one-pot synthesis of stereodefined 3-arylidene-(or 3-alkenylidene-)tetrahydrofurans.

A one-pot reaction between equimolecular amounts of various propargyl alcohols, Michael acceptors, and unsaturated halides (or triflates) in the presence of a palladium(0) catalyst provides a simple and flexible entry into highly substituted 3-arylidene-(or 3-alkenylidene-)tetrahydrofurans. The efficiency of this palladium-mediated three-component reaction has been shown to be strongly influenced by the nature of the catalyst system, and in this regard, a palladium(0) catalyst generated in situ by reduction of PdCl2(PPh3)2 with n-butyllithium has been found particularly effective.