Recurrent Angiotensin-Converting Enzyme Inhibitor-Induced Angioedema Refractory to Fresh Frozen Plasma.

The case of a patient with refractory angioedema who was treated with fresh frozen plasma without success raises concern for its effectiveness.

Síndrome de Goldenhar. Presentación de un caso / Goldenhar Syndrome. Case Report

Introducción: el síndrome de Goldenhar es una rara condición de aparición esporádica y con componente genético débil (no tiene patrones hereditarios, ni asociados al sexo o color de la piel). Se caracteriza por un espectro de malformaciones faciales, especialmente deformaciones oculares y auriculares, que comprometen una hemicara (generalmente la derecha), con presencia o ausencia de anomalías vertebrales. El pleomorfismo de este trastorno del desarrollo y la variedad de manifestaciones que provoca, hacen necesaria una detallada valoración de cada paciente en particular. Se presenta un caso clínico de dicha enfermedad. Presentación del caso: paciente de 23 meses de edad, masculino, primogénito de una pareja de 21 y 24 años respectivamente; ambos progenitores son sanos, no consanguíneos y tienen antecedentes familiares de hipertensión arterial y asma bronquial. Aunque la mayoría de las manifestaciones neurológicas reportadas dentro del síndrome de Goldenhar son ominosas, graves e invalidantes, no se encontró ninguna de ellas en este paciente. Se le mantiene el seguimiento trimestral por las consultas de Pediatría y Logofoniatría, con el objetivo de reevaluar su desarrollo psicomotor y del lenguaje; hasta la fecha, se registran resultados favorables en ambos aspectos. Conclusiones: es importante realizar el diagnóstico precoz de esta enfermedad para ofrecer asesoramiento genético a la familia y garantizar la calidad de vida de los pacientes. El método clínico constituye la base de un diagnóstico certero, por lo que es fundamental que el médico cuente con las habilidades necesarias para una correcta práctica(AU)

Introduction: Goldenhar syndrome is a rare condition of sporadic appearance and with weak genetic component (there are no hereditary patterns, or associated with sex or skin color). It is characterized by a spectrum of facial malformations, especially eye and ear deformations that compromise one side of the face (usually the right side), with the presence or absence of vertebral anomalies. Pleomorphism of this developmental disorder and the variety of manifestations, require a detailed assessment of the individual patient. A clinical case of this disease occurs. Case report: a patient of 23 months of age, male, firstborn of a couple of 21 and 24 years respectively; both parents are healthy, nonconsanguineous and have a family history of hypertension and bronchial asthma. Although most of the neurological manifestations reported in the Goldenhar syndrome are ominous, serious and disabling, none of them was found in this patient. It keeps the quarterly follow-up consultations of Pediatrics and Logofoniatria, aiming to reassess their psychomotor development and language; so far, favorable results are recorded in both respects.Conclusions: it is important to make early diagnosis of this disease to provide genetic counseling to the family and ensure the quality of life of patients. The clinical method is the basis for an accurate diagnosis, so it is essential that the physician has the necessary skills for proper practice(AU)

Ultra-high-pressure liquid chromatography tandem mass spectrometry determination of hallucinogenic drugs in hair of psychedelic plants and mushrooms consumers.

A procedure based on ultra-high-pressure liquid chromatography tandem mass spectrometry has been developed for the determination of mescaline, N,N-dimethyltryptamine, psilocin, psilocybin, salvinorin A in hair of consumers of psychedelic vegetal material such peyote or trichocereus cacti, psilocybe mushrooms, Salvia divinorum or psychedelic beverage ayahuasca. After hair washing with methyl alcohol and diethyl ether and subsequent addition of mescaline-d9 and 3,4-methylenedioxypropylamphetamine as internal standards, hair samples were treated with 250µl VMA-T M3 reagent for 1h at 100°C. After cooling, 100µl M3 extract were diluted with 400µl water and a volume of 10µl was injected into chromatographic system. Chromatographic separation was achieved at ambient temperature using a reverse-phase column and a linear gradient elution with two solvents: 0.3% formic acid in acetonitrile and 5mM ammonium formate pH 3. The mass spectrometer was operated in positive ion mode, using multiple reaction monitoring via positive electrospray ionization. The method was linear from the limit of quantification (0.03-0.05ng/mg depending on analyte under investigation) to 10ng/mg hair, with an intra- and inter-assay imprecision and inaccuracy always less than 15% and an analytical recovery between 79.6% and 97.4%, depending on the considered analyte. Using the validated method, mescaline was found in concentration range of 0.08-0.13ng/mg in hair of peyote smokers, 3.2ng salvinorin A per mg hair were determined in hair from a S. divinorum smoker, 5.6ng N,N-dimethyltryptamine per mg hair from an ayahuasca user and finally 0.8ng psilocybin per ng hair of a psilocybe consumer.

Simultaneous analysis of frequently used licit and illicit psychoactive drugs in breast milk by liquid chromatography tandem mass spectrometry.

A liquid chromatography tandem mass spectrometry (LC-MS-MS) method for the quantification of frequently used licit (caffeine, nicotine and cotinine) and illicit drugs (opiates, cocaine, cannabinoids and amphetamines) in breast milk was developed and fully validated. Chromatography was performed on a reverse-phase column using a gradient of 2mM ammonium acetate, pH 6.6, and methyl alcohol as mobile phase at a flow rate of 0.35 mL/min. Separated analytes were quantified by electrospray ionization tandem mass spectrometry in positive ion mode using multiple reaction monitoring. Milk samples were kept at -20 °C until analysis and the compounds under investigation were extracted from the matrix by Bond Elut Certify cartridges. The concentration range covered was LOQ to 1000 ng/mL for all the investigated drugs. Intra- and inter-assay imprecision was less than 20%, analytical recovery ranged between 51.6% and 86.5%, matrix effect between 71.1% and 116.6% and process efficiency between 46.8% and 84.0%. Analytes were stable after three freeze-thaw cycles, after 6 months at -20 °C and after the pasteurization process (differences to the initial concentration always lower than 10%). matrix effect ranged from 77.6% to 116.6%, recovery from 51.6% to 86.5%, and process efficiency from 46.8% to 79.0%. This LC-MS-MS assay was applied to screen samples from the largest Spanish milk bank and samples coming from drug addicted mothers. The developed method provided adequate sensitivity and performance characteristics to prove the presence of only caffeine in a small percentage of samples from milk donating nursing mothers and the presence or absence of most commonly used illicit drugs in breast milk from addicted lactating mothers.