Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.

BACKGROUND: The SLC39A14, SLC30A10 and SLC39A8 are considered to be key genes involved in manganese (Mn) homeostasis in humans. Mn levels in plasma and urine are useful tools for early recognition of these disorders. We aimed to explore further biomarkers of Mn deposition in the central nervous system in two siblings presenting with acute dystonia and hypermanganesemia due to mutations in SLC39A14. These biomarkers may help clinicians to establish faster and accurate diagnosis and to monitor disease progression after chelation therapy is administered. RESULTS: A customized gene panel for movement disorders revealed a novel missense variant (c.311G > T; p.Ser104Ile) in SLC39A14 gene in two siblings presenting at the age of 10 months with acute dystonia and motor regression. Mn concentrations were analyzed using inductively coupled mass spectrometry in plasma and cerebrospinal fluid, disclosing elevated Mn levels in the index case compared to control patients. Surprisingly, Mn values were 3-fold higher in CSF than in plasma. We quantified the pallidal index, defined as the ratio between the signal intensity in the globus pallidus and the subcortical frontal white matter in axial T1-weighted MRI, and found significantly higher values in the SLC39A14 patient than in controls. These values increased over a period of 10 years, suggesting the relentless pallidal accumulation of Mn. Following genetic confirmation, a trial with the Mn chelator Na2CaEDTA led to a reduction in plasma Mn, zinc and selenium levels. However, parents reported worsening of cervical dystonia, irritability and sleep difficulties and chelation therapy was discontinued. CONCLUSIONS: Our study expands the very few descriptions of patients with SLC39A14 mutations. We report for the first time the elevation of Mn in CSF of SLC39A14 mutated patients, supporting the hypothesis that brain is an important organ of Mn deposition in SLC39A14-related disease. The pallidal index is an indirect and non-invasive method that can be used to rate disease progression on follow-up MRIs. Finally, we propose that patients with inherited defects of manganese transport should be initially treated with low doses of Na2CaEDTA followed by gradual dose escalation, together with a close monitoring of blood trace elements in order to avoid side effects.

Randomized comparison of three transducer orientation approaches for ultrasound guided internal jugular venous cannulation.

BACKGROUND: Ultrasound-guided internal jugular venous access increases the rate of successful cannulation and reduces the incidence of complications, compared with the landmark technique. Three transducer orientation approaches have been proposed for this procedure: short-axis (SAX), long-axis (LAX) and oblique-axis (OAX). Our goal was to assess and compare the performance of these approaches. METHODS: A prospective randomized clinical trial was conducted in one teaching hospital. Patients aged 18 yr or above, who were undergoing ultrasound-guided internal jugular cannulation, were randomly assigned to one of three intervention groups: SAX, LAX and OAX group. The main outcome measure was successful cannulation on first needle pass. Incidence of mechanical complications was also registered. Restricted randomization was computer-generated. RESULTS: In total, 220 patients were analysed (SAX n=73, LAX n=75, OAX n=72). Cannulation was successful on first needle pass in 51 (69.9%) SAX patients, 39 (52%) LAX patients and 53 (73.6%) OAX patients. First needle pass failure was higher in the LAX group than in the OAX group (adjusted OR 3.7, 95% CI 1.71-8.0, P=0.002). A higher mechanical complication rate was observed in the SAX group (15.1%) than in the OAX (6.9%) and LAX (4%) groups (P=0.047). CONCLUSIONS: As OAX showed a higher first needle pass success rate than LAX and a lower mechanical complications rate than SAX, we recommend it as the standard approach when performing ultrasound-guided internal jugular venous access. Further clinical studies are needed to confirm this conclusion. CLINICAL TRIAL REGISTRATION: NCT 01966354.

Canulación venosa femoral distal mediante asistencia ecográfica dinámica / Dynamic ultrasound assistance for distal femoral vein cannulation

No disponible

Influencia del neumoperitoneo en la curva de capnografía: imagen en “Torre de Castillo” / No disponible

No disponible

[Airtraq optical laryngoscopy]. / Laringoscopio óptico Airtraq.

Endotracheal intubation using direct laryngoscopy continues to be the "gold standard" amongst all the techniques for isolating the airway. Generally this is a secure manoeuvre, but it might become a situation of extreme emergency when dealing with an unexpected difficult airway. The Airtraq laryngoscope (Prodol Meditec, Vizcaya, Spain) is a new tool for use with the patient. The fact that it is easy to learn to use and simple to handle makes it a practical device in many situations where managing the airway is indicated. Its advantages over the Macintosh laryngoscope have been demonstrated in patients with an airway that it is difficult to manage and in adverse situations outside the surgical setting, when endotracheal intubation has been achieved in a simple way following unsuccessful attempts with conventional laryngoscopes. The greatest benefits in using the Airtraq laryngoscope have been shown in patients with a pronounced limitation of cervical mobility, and in those where the airway is distorted for anatomical reasons, such as pregnant women and obese patients.

Laringoscopio óptico Airtraq® / Airtraq® optical laryngoscopy

La intubación endotraqueal mediante laringoscopiadirecta sigue siendo el gold standard entre todas lastécnicas de aislamiento de la vía aérea. Se trata, generalmente,de una maniobra segura, pero en ocasionespuede convertirse en una situación de extrema emergenciaante una vía aérea difícil imprevista.El laringoscopio Airtraq® (Prodol Meditec, Vizcaya,Spain) representa una nueva herramienta a utilizaren el paciente. Su fácil aprendizaje y sencillo manejo loconvierten en un práctico dispositivo en muchas indicacionesde manejo de la vía aérea. Ha mostrado ventajasfrente al laringoscopio de Macintosh en pacientes convía aérea de difícil manejo y en situaciones adversasfuera del medio quirúrgico, lográndose la intubaciónendotraqueal de forma sencilla tras intentos ineficacescon laringoscopios convencionales.Los mayores beneficios con el uso del laringoscopioAirtraq® se han visto en pacientes con una marcadalimitación de la movilidad cervical y aquellos, comoembarazadas y obesos, en los que por razones anatómicasla vía aérea se ve distorsionada(AU)

Endotracheal intubation using direct laryngoscopycontinues to be the “gold standard” amongst all thetechniques for isolating the airway. Generally this is asecure manoeuvre, but it might become a situation ofextreme emergency when dealing with an unexpecteddifficult airway.The Airtraq® laryngoscope (Prodol Meditec, Vizcaya,Spain) is a new tool for use with the patient. Thefact that it is easy to learn to use and simple to handlemakes it a practical device in many situations wheremanaging the airway is indicated. Its advantages overthe Macintosh laryngoscope have been demonstratedin patients with an airway that it is difficult to manageand in adverse situations outside the surgical setting,when endotracheal intubation has been achieved in asimple way following unsuccessful attempts with conventionallaryngoscopes.The greatest benefits in using the Airtraq® laryngoscopehave been shown in patients with a pronouncedlimitation of cervical mobility, and in those wherethe airway is distorted for anatomical reasons, such aspregnant women and obese patients(AU)

[Consequences of heroin consumption: compartmental syndrome and rhabdomyolysis]. / Consecuencias del consumo de heroína: síndrome compartimental y rabdomiolisis.

Compartment syndrome is a condition in which increased pressure within a limited space compromises tissue perfusion with the development of rhabdomyolysis. The causes can be physical, such as the pressure exerted on an anatomical region, or it can be associated with the consumption of illegal drugs, especially heroin. In this latter case, toxic and immunological mechanisms are involved in the physiopathology. Acute renal failure develops in 30% of cases of rhabdomyolysis. Its treatment includes efficient volume replacement, forcing urinary alkalinization and the administering of furosemide and mannitol, with certain precautions. No benefit has been shown in dopamine. When a heroin addict patient shows a clinical pattern of tumescence of his extremities, with or without a period of unconsciousness, the presence of compartment syndrome is to be suspected.

Consecuencias del consumo de heroína: síndrome compartimental y rabdomiolisis / Consequences of heroin consumption: compartmental syndrome and rhabdomyolysis

El síndrome compartimental se define como un aumento de las presiones en un espacio cerrado, lo que determina un compromiso en la perfusión tisular con el desarrollo de un cuadro de rabdomiolisis. Las causas pueden ser físicas, como una presión mantenida sobre una región anatómica, o bien asociarse al consumo de drogas de abuso, en especial la heroína. En este último caso se han implicado en la fisiopatología mecanismos tóxicos e inmunológicos. En el 30% de los cuadros de rabdomiolisis se desarrolla una insuficiencia renal aguda. Su tratamiento pasa por la reposición volémica eficaz, forzar la diuresis alcalina y la administración de furosemida y manitol, éstos últimos con ciertas precauciones. No se ha demostrado el beneficio de la dopamina.Ante un paciente heroinómano que presente un cuadro de tumefacción de extremidades, con o sin periodo de inconsciencia, se debe sospechar la presencia de síndrome compartimental

Compartment syndrome is a condition in which increased pressure within a limited space compromises tissue perfusion with the development of rhabdomyolysis. The causes can be physical, such as the pressure exerted on an anatomical region, or it can be associated with the consumption of illegal drugs, especially heroin. In this latter case, toxic and immunological mechanisms are involved in the physiopathology. Acute renal failure develops in 30% of cases of rhabdomyolysis. Its treatment includes efficient volume replacement, forcing urinary alkalinization and the administering of furosemide and mannitol, with certain precautions. No benefit has been shown in dopamine. When a heroin addict patient shows a clinical pattern of tumescence of his extremities, with or without a period of unconsciousness, the presence of compartment syndrome is to be suspected

Tratamiento de la hepatitis crónica por virus C / No disponible

La hepatitis crónica por virus C es la principal causa de enfermedad crónica hepática en nuestro medio y la indicación más frecuente de trasplante hepático. Afecta a un millón de personas en España, cerca de 4 millones en los Estados Unidos, más de 5 millones en Europa y de 170 millones en todo el mundo. Estas cifras hablan de la necesidad de encontrar un tratamiento eficaz, capaz de eliminar la infección o, al menos, detener la progresión de la enfermedad hepática. El tratamiento de elección en la actualidad, la combinación de interferón alfa pegilado y ribavirina, ha duplicado las tasas de respuesta sostenida obtenidas hace tan sólo algunos años, pero dista aún de ser óptimo. El gran número de enfermos no respondedores al tratamiento, la mala respuesta de los enfermos cirróticos o en circunstancias especiales y la evidencia de la recurrencia universal de la enfermedad tras el trasplante exigen nuevas estrategias terapéuticas en el futuro inmediato (AU)

Chronic hepatitis C is the major cause of chronic liver disease in western countries and the leading indication for liver transplant. An estimated one million people are infected in Spain, four million in the US, five million in Europe and more than 170 million worldwide. An effective treatment, able to eradicate the virus or to stop the progression of liver disease is clearly needed. Current treatment of chronic hepatitis C, the combination of pegylated alpha interferon and ribavirin, has doubled the sustained response rate there was only a few years ago, but this treatment is far from ideal. The number of non-responders, the low response rates in cirrhotic patients or those with special situations, and the evidence of recurrence of liver disease after liver transplant call for new therapeutic strategies in the near future (AU)