Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia.

Hypophosphatasia (HPP), also called Rathbun disease, is a rare genetic disorder that is caused by the loss-of-function mutation in the ALPL gene encoding tissue non-specific alkaline phosphatase. Doctor Rathbun first described the case of a 3-week-old infant who presented with severe osteopenia, rickets, and multiple radiographic fractures, and died shortly after of epileptic seizure and respiratory distress. The term "hypophosphatasia" was coined as the patients' alkaline phosphatase levels were significantly low. Since then, our understanding of HPP has evolved, and now we appreciate causative genetic mutation and the broad spectrum of clinical presentation depending on the age of onset, severity, and skeletal involvement: perinatal, infantile, childhood, adult and odontohypophosphatasia. The new development of enzyme replacement with asfostase alfa has saved the lives of severe form of hypophosphatasia. However, it is still unclear and remains challenging how to manage adult HPP that often presents with mild and non-specific symptoms such as muscle pain, joint stiffness, fatigue, anxiety, or low bone mass, which are common in the general population and not necessarily attributed to HPP. In this review, we will present 3 unique cases of adult HPP and discuss the pathophysiology, clinical presentation particularly neuromuscular and neurocognitive symptoms and management of adult HPP.

Identification of volatile compounds from a food-grade vinegar attractive to house flies (Diptera: Muscidae).

A commercial vinegar product (ChinKiang) was found to be highly attractive to adult house flies, Musca domestica L. Field experiments on a Nebraska dairy demonstrated that traps baited with vinegar and brown sugar captured more house flies than those baited with other house fly attractants. Solid phase microextraction was used in the field to collect volatiles from the vinegar bait. Seven compounds were identified as, acetic acid, furfural, butanoic acid, isovaleric acid, hexanoic acid, 2-phenylethanol, and p-cresol. Electroantennograms showed that the seven vinegar components elicited significant responses from antennae of female and male house flies. Bioassays indicated that the vinegar blend of the seven volatile components were more attractive than any of the individual components. Field evaluations demonstrated that traps baited with the synthetic seven component blend caught as many flies as those baited with vinegar. This is the first detailed report of house fly attractants from vinegar. The vinegar volatile compounds identified in this study will be useful for the development of less objectionable alternatives to the fetid, manure mimicking volatiles currently used in commercial fly bait systems, especially those designed for use in indoor environments.

Gene expression profiles of Drosophila melanogaster exposed to an insecticidal extract of Piper nigrum.

Black pepper, Piper nigrum L. (Piperaceae), has insecticidal properties and could potentially be utilized as an alternative to synthetic insecticides. Piperine extracted from P. nigrum has a biphasic effect upon cytochrome P450 monooxygenase activity with an initial suppression followed by induction. In this study, an ethyl acetate extract of P. nigrum seeds was tested for insecticidal activity toward adult Musca domestica and Drosophila melanogaster. The effect of this same P. nigrum extract upon differential gene expression in D. melanogaster was investigated using cDNA microarray analysis of 7380 genes. Treatment of D. melanogaster with P. nigrum extract led to a greater than 2-fold upregulation of transcription of the cytochrome P450 phase I metabolism genes Cyp 6a8, Cyp 9b2, and Cyp 12d1 as well as the glutathione-S-transferase phase II metabolism gene Gst-S1. These data suggests a complex effect of P. nigrum upon toxin metabolism.

Delayed onset of oculogyric crisis and torticollis with intramuscular haloperidol.

OBJECTIVE: To report a case of delayed-onset dystonic reactions, oculogyric crisis (OGC), and torticollis after treatment with intramuscular haloperidol lactate injection. CASE SUMMARY: A 22-year-old Mexican American woman received intramuscular haloperidol lactate 7.5 mg followed 4 hours later by 10 mg. Twenty-six hours after the first injection, the patient reported that she was unable to lower her gaze and that her neck was stiff. She was immediately given intramuscular benztropine 2 mg; there was a nearly complete remission of symptoms within 15 minutes of treatment. An objective causality assessment revealed a probable relationship between the OGC/torticollis and haloperidol therapy. DISCUSSION: Dystonic reactions have been reported in 10-60% of patients treated with neuroleptic medication, most commonly when patients just start or increase the dose of the drug. The highest frequency of dystonic reactions has occurred in patients receiving high-potency neuroleptics. It has also been suggested that haloperidol-induced dystonic reactions are a result of the toxic metabolites of that agent. CONCLUSIONS: OGC and torticollis reactions may occur 12-24 hours after treatment with a high-potency neuroleptic, even in the absence of symptoms of extrapyramidal side effects (EPSEs). The delayed dystonic reaction may begin suddenly (no early EPSE symptomatology).