Discinesia asociada a ADCY5 en la infancia: a propósito de una familia y revisión actualizada / ADCY5-associated dyskinesia in young children: a case report of a family and an updated review

INTRODUCCIÓN: La discinesia de la mutación ADCY5 es un raro trastorno del movimiento de inicio en la infancia. Se caracteriza por movimientos coreicos aislados o asociados a mioclonías y distonías que afectan a las extremidades, el cuello y la cara. El escaso número de pacientes y familias no permite aún una adecuada relación genotipo-fenotipo. OBJETIVOS: Presentar el caso de un niño con trastornos del movimiento de inicio precoz en el seno de una familia con tres generaciones de afectados, y realizar una revisión actualizada de la casuística y el tratamiento de esta rara enfermedad. CASO CLÍNICO: Varón de 6 años, remitido por retraso del lenguaje e hiperactividad. Tras seis meses de seguimiento, comenzó a presentar movimientos coreicos de predominio facial y de la raíz de los miembros, especialmente al despertar. Al año de seguimiento, se evidenció corea generalizado en reposo con afectación orofacial y torpeza en la marcha. Como antecedentes familiares destacaban su madre, abuelo, tío y prima maternos, que fueron diagnosticados de síndrome de Meige (distonía oromandibular y músculos periorbitarios) con trastornos del movimiento de tipo coreiforme sin filiar desde la infancia. El estudio cerebral por resonancia magnética no presentó alteraciones. Se realizó un exoma clínico dirigido a trastornos del movimiento que descubrió la mutación patógena en el gen ADCY5 causante de la discinesia familiar autosómica. CONCLUSIÓN: La mutación c.1126G > A p.A376T muestra una historia natural con un fenotipo clínico no progresivo en tres generaciones de afectados, con inicio en la infancia y respuesta al tratamiento con guanfacina

INTRODUCTION. Dyskinesia of the ADCY5 mutation is a rare movement-onset disorder in childhood. It is characterized by isolated chorea movements or associated with myoclonus and dystonia affecting the limbs, neck and face. The low number of patients and families still does not allow an adequate genotype-phenotype relationship. AIMS. The case of a child with movement disorders of early onset is presented in a family with three generations of affected members. An updated review of the casuistry and management of this rare disease is made. CASE REPORT: A 6-year-old boy referred for language delay and hyperactivity. After six months of follow-up he begins to show chorea movements of predominantly facial and limb roots, especially when waking up. At one year of follow-up, generalized chorea at rest with orofacial involvement and awkward gait begins to show. His family history includes his mother, grandfather, maternal uncle and cousin, who were diagnosed with Meige's syndrome (oromandibular dystonia and periorbital muscles) with choreiform-like movement disorders without affiliation since childhood. The brain study by MRI showed no alterations. A clinical exome targeting movement disorders was performed that discovered the pathogenic mutation in the ADCY5 gene causing autosomal familial dyskinesia. CONCLUSION: The c.1126G>A p.A376T mutation shows a natural history with a non-progressive clinical phenotype in three generations of affected members, with childhood debut and response to guanfacine treatment

Sangrado de angiomiolipoma renal en paciente con síndrome de genes contiguos (TSC2/PKD1) tras 17 años de tratamiento renal sustitutivo / Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy

Presentamos el caso de un varón de 32 años, con síndrome de genes contiguos TSC2/PKD1, que le ocasiona esclerosis tuberosa (ET) y poliquistosis renal autosómica dominante simultáneamente. Evolucionó a enfermedad renal terminal y se realizó trasplante renal a los 12 años. Los riñones presentaban angiomiolipomas (AML), que son tumores benignos frecuentes en pacientes con ET. A los 17 años postrasplante, presentó un cuadro de dolor abdominal, anemización y hematoma retroperitoneal. Dicho hematoma se produjo por el sangrado de los AML. Como tratamiento se realizó embolización selectiva. Nuestro paciente podría haberse beneficiado en el momento del trasplante renal del tratamiento con inhibidores de mTOR. Este fármaco actúa como inmunosupresor y reductor tumoral en la ET, al disminuir el riesgo de rotura y hemorragia. En este paciente no se administró porque cuando se trasplantó no se conocía la relación de los inhibidores de mTOR con la ET. Este caso confirma que, a pesar de tratarse de pacientes trasplantados o en diálisis, el riesgo de sangrado por los AML persiste, por lo cual se propone realizar controles periódicos de los riñones propios y valorar la nefrectomía (AU)

We report the case of a 32-year-old male diagnosed with TSC2/PKD1 contiguous gene syndrome, presenting with tuberous sclerosis (TS) and autosomal dominant polycystic kidney disease simultaneously. He progressed to end-stage renal disease and received a kidney transplant at the age of 12. The native kidneys presented angiomyolipomas (AML), which are common benign tumours in patients with TS. Seventeen years after transplantation, he presented with abdominal pain, anaemia and a retroperitoneal haematoma, the latter caused by renal AML bleeding. Selective embolisation was performed. Our patient could have benefited from the administration of mTOR inhibitors at transplant. This therapy is immunosuppressive and reduces the size of benign tumours in TS as well as the risk of rupture and bleeding. This patient did not receive mTOR inhibitors at the time of the transplant because the relationship between mTOR inhibitors and TS was unknown at that time. This case confirms the persistent risk of renal AML bleeding for both transplanted patients and patients on dialysis. As a result, we would recommend routine check-ups of native kidneys and nephrectomy assessment (AU)

Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy. / Sangrado de angiomiolipoma renal en paciente con síndrome de genes contiguos (TSC2/PKD1) tras 17 años de tratamiento renal sustitutivo.

We report the case of a 32-year-old male diagnosed with TSC2/PKD1 contiguous gene syndrome, presenting with tuberous sclerosis (TS) and autosomal dominant polycystic kidney disease simultaneously. He progressed to end-stage renal disease and received a kidney transplant at the age of 12. The native kidneys presented angiomyolipomas (AML), which are common benign tumours in patients with TS. Seventeen years after transplantation, he presented with abdominal pain, anaemia and a retroperitoneal haematoma, the latter caused by renal AML bleeding. Selective embolisation was performed. Our patient could have benefited from the administration of mTOR inhibitors at transplant. This therapy is immunosuppressive and reduces the size of benign tumours in TS as well as the risk of rupture and bleeding. This patient did not receive mTOR inhibitors at the time of the transplant because the relationship between mTOR inhibitors and TS was unknown at that time. This case confirms the persistent risk of renal AML bleeding for both transplanted patients and patients on dialysis. As a result, we would recommend routine check-ups of native kidneys and nephrectomy assessment.

Detección de las calcificaciones cardiovasculares: ¿una herramienta útil para el nefrólogo? / Detection of cardiovascular calcifications: Is it a useful tool for nephrologists?

La enfermedad renal crónica (ERC) ha servido de modelo y fuente de conocimiento sobre los mecanismos, la relevancia clínica y progresión acelerada de los procesos de la calcificación cardiovascular (CV), así como de sus repercusiones en la práctica clínica, aunque se trate de un fenómeno tardío y secundario de osificación sobre el que solo disponemos de evidencias circunstanciales. En esta amplia revisión se describen primero los tipos de calcificación CV que afectan al paciente con ERC y se analiza cómo su presencia está directamente asociada a eventos CV y a un aumento de la mortalidad de estos pacientes. Asimismo, justificamos la valoración de la calcificación CV en la práctica clínica nefrológica habitual, al entender que es un predictor importante de la evolución clínica de estos pacientes, y consideramos que la valoración de las calcificaciones CV es una herramienta que puede y debe ser utilizada por el nefrólogo para la toma individualizada de decisiones terapéuticas en un momento en que se requiere cada vez más de una medicina personalizada (AU)

Chronic kidney disease (CKD) has been used as a model and source of knowledge concerning the mechanisms, clinical relevance and accelerated progression of cardiovascular (CV) calcification, as well as its consequences in clinical practice, despite we know that it is a late secondary ossification phenomenon and only circumstantial evidence is available. In this comprehensive review, we firstly describe the types of CV calcification which affect CKD patients, and we analyse how its presence is directly associated with CV events and increased mortality in these patients. We also justify the use of CV calcification assessment in regular nephrology clinical practice, because CV calcification is an important predictor of clinical outcome in these patients. Consequently, we believe that CV calcification assessment is a tool that could and should be used by nephrologists when making a decision concerning individual patients, consistent with the current trend of an ever-more-personalised therapeutic approach (AU)

Calcificaciones cardiovasculares en la enfermedad renal crónica: Potenciales implicaciones terapéuticas / Cardiovascular calcifications in chronic kidney disease: Potential therapeutic implications

La calcificación cardiovascular (CV) es una condición muy prevalente en todos los estadios de la enfermedad renal crónica (ERC) y se asocia directamente a una mayor morbimortalidad CV y global. En la primera parte de esta revisión hemos mostrado cómo las calcificaciones CV son una característica destacada del complejo CKD-MBD (chronic kidney disease-mineral and bone disorders) así como un predictor superior de la evolución clínica de nuestros pacientes. No obstante, es necesario también demostrar que la calcificación CV es un factor de riesgo modificable y con la posibilidad, como mínimo, de poder disminuir su progresión (o al menos no agravarla) con maniobras iatrogénicas. Aunque estrictamente solo se disponga de evidencias circunstanciales, sabemos que el uso de determinados fármacos puede modificar la progresión de las calcificaciones CV, aunque no se ha demostrado un vínculo directo causal sobre la mejoría de la supervivencia. En este sentido, el uso de quelantes del fósforo no cálcicos ha demostrado reducir la progresión de las calcificaciones CV en comparación con el uso liberal de quelantes cálcicos en varios ensayos clínicos aleatorizados. Por otra parte, aunque solo a nivel experimental, los activadores selectivos del receptor de la vitamina D parecen mostrar un mayor margen terapéutico contra la calcificación CV. Finalmente, los calcimiméticos también parece que podrían atenuar la progresión de la calcificación CV en pacientes en diálisis. Mientras se desarrollan nuevas estrategias terapéuticas (p. ej. vitamina K, SNF472…), proponemos que la valoración de las calcificaciones CV puede ser una herramienta usada por el nefrólogo para la toma individualizada de decisiones terapéuticas (AU)

Cardiovascular (CV) calcification is a highly prevalent condition at all stages of chronic kidney disease (CKD) and is directly associated with increased CV and global morbidity and mortality. In the first part of this review, we have shown that CV calcifications represent an important part of the CKD-MBD complex and are a superior predictor of clinical outcomes in our patients. However, it is also necessary to demonstrate that CV calcification is a modifiable risk factor including the possibility of decreasing (or at least not aggravating) its progression with iatrogenic manoeuvres. Although, strictly speaking, only circumstantial evidence is available, it is known that certain drugs may modify the progression of CV calcifications, even though a direct causal link with improved survival has not been demonstrated. For example, non-calcium-based phosphate binders demonstrated the ability to attenuate the progression of CV calcification compared with the liberal use of calcium-based phosphate binders in several randomised clinical trials. Moreover, although only in experimental conditions, selective activators of the vitamin D receptor seem to have a wider therapeutic margin against CV calcification. Finally, calcimimetics seem to attenuate the progression of CV calcification in dialysis patients. While new therapeutic strategies are being developed (i.e. vitamin K, SNF472, etc.), we suggest that the evaluation of CV calcifications could be a diagnostic tool used by nephrologists to personalise their therapeutic decisions (AU)

Cardiovascular calcifications in chronic kidney disease: Potential therapeutic implications. / Calcificaciones cardiovasculares en la enfermedad renal crónica: Potenciales implicaciones terapéuticas.

Cardiovascular (CV) calcification is a highly prevalent condition at all stages of chronic kidney disease (CKD) and is directly associated with increased CV and global morbidity and mortality. In the first part of this review, we have shown that CV calcifications represent an important part of the CKD-MBD complex and are a superior predictor of clinical outcomes in our patients. However, it is also necessary to demonstrate that CV calcification is a modifiable risk factor including the possibility of decreasing (or at least not aggravating) its progression with iatrogenic manoeuvres. Although, strictly speaking, only circumstantial evidence is available, it is known that certain drugs may modify the progression of CV calcifications, even though a direct causal link with improved survival has not been demonstrated. For example, non-calcium-based phosphate binders demonstrated the ability to attenuate the progression of CV calcification compared with the liberal use of calcium-based phosphate binders in several randomised clinical trials. Moreover, although only in experimental conditions, selective activators of the vitamin D receptor seem to have a wider therapeutic margin against CV calcification. Finally, calcimimetics seem to attenuate the progression of CV calcification in dialysis patients. While new therapeutic strategies are being developed (i.e. vitamin K, SNF472, etc.), we suggest that the evaluation of CV calcifications could be a diagnostic tool used by nephrologists to personalise their therapeutic decisions.

Detection of cardiovascular calcifications: Is it a useful tool for nephrologists? / Detección de las calcificaciones cardiovasculares: ¿una herramienta útil para el nefrólogo?

Chronic kidney disease (CKD) has been used as a model and source of knowledge concerning the mechanisms, clinical relevance and accelerated progression of cardiovascular (CV) calcification, as well as its consequences in clinical practice, despite we know that it is a late secondary ossification phenomenon and only circumstantial evidence is available. In this comprehensive review, we firstly describe the types of CV calcification which affect CKD patients, and we analyse how its presence is directly associated with CV events and increased mortality in these patients. We also justify the use of CV calcification assessment in regular nephrology clinical practice, because CV calcification is an important predictor of clinical outcome in these patients. Consequently, we believe that CV calcification assessment is a tool that could and should be used by nephrologists when making a decision concerning individual patients, consistent with the current trend of an ever-more-personalised therapeutic approach.

Clinical and Practical Use of Calcimimetics in Dialysis Patients With Secondary Hyperparathyroidism.

CKD and CKD-related mineral and bone disorders (CKD-MBDs) are associated with high cardiovascular and mortality risks. In randomized clinical trials (RCTs), no single drug intervention has been shown to reduce the high mortality risk in dialysis patients, but several robust secondary analyses point toward important potential beneficial effects of controlling CKD-MBD-related factors and secondary hyperparathyroidism. The advent of cinacalcet, which has a unique mode of action at the calcium-sensing receptor, represented an important step forward in controlling CKD-MBD. In addition, new RCTs have conclusively shown that cinacalcet improves achievement of target levels for all of the metabolic abnormalities associated with CKD-MBD and may also attenuate the progression of vascular and valvular calcifications in dialysis patients. However, a final conclusion on the effect of cinacalcet on hard outcomes remains elusive. Tolerance of cinacalcet is limited by frequent secondary side effects such as nausea, vomiting, hypocalcemia and oversuppression of parathyroid hormone, which may cause some management difficulties, especially for those lacking experience with the drug. Against this background, this review aims to summarize the results of studies on cinacalcet, up to and including the publication of the recent ADVANCE and EVOLVE RCTs, as well as recent post hoc analyses, and to offer practical guidance on how to improve the clinical management of the most frequent adverse events associated with cinacalcet, based on both currently available information and personal experience. In addition, attention is drawn to less common secondary effects of cinacalcet treatment and advisable precautions.

Protocolo de actuación ante valores críticos en pruebas de laboratorio en el lugar de asistencia al paciente en una unidad neonatal / Critical values protocol for point of care testing in a neonatal unit

Introducción. En las unidades asistenciales que realizan pruebas de laboratorio en el lugar de asistencia al paciente (POCT) sería recomendable establecer las mismas políticas de calidad que en el laboratorio central, entre ellas disponer de un protocolo de actuación ante valores críticos. El objetivo del estudio consistió en elaborar el listado de valores críticos para pruebas POCT realizadas en una unidad neonatal y establecer el protocolo de actuación. Material y métodos. Las magnitudes estudiadas fueron pH, pCO2, pO2, saturación de oxígeno, hemoglobina, sodio, potasio, calcio ionizado, glucosa, bilirrubina y lactato. Estas magnitudes fueron determinadas en un analizador ABL90 FLEX. El listado de valores críticos se elaboró mediante revisión de la bibliografía y consenso con los neonatólogos. El protocolo de actuación se adaptó a partir del protocolo del laboratorio de urgencias. La revisión del listado preliminar se basó en la práctica clínica y en los datos de frecuencia de aparición de valores críticos. Resultados. Se expone nuestra experiencia en la elaboración de un listado de valores críticos para POCT y en la implantación del protocolo de actuación. Conclusiones. Para establecer el listado de valores críticos y protocolo de actuación resultó fundamental la experiencia del laboratorio central. Para conseguir la implantación de un protocolo de actuación ante valores críticos en POCT es necesaria una estrecha colaboración entre la unidad asistencial y el personal del laboratorio. La frecuencia de aparición de valores críticos y la experiencia de los clínicos son herramientas que se complementan en la revisión del listado de valores críticos (AU)

Introduction. Care units performing point of care testing (POCT) should have the same quality policies as the central laboratory, including having a protocol for critical values. The aim of the study was to develop a list of critical values for POCT in a neonatal unit, and set the protocol performance. Material and methods. The tests included in the protocol were pH, pCO2, pO2, oxygen saturation, haemoglobin, sodium, potassium, ionized calcium, glucose, bilirubin, and lactate. These tests were determined using a POCT ABL90FLEX analyser. To prepare the list of critical values, a bibliography review was performed, as well as meetings with the neonatologists. The revision of the preliminary list was based on clinical practice and data frequency of critical values. To set the protocol, an adaptation of our emergency laboratory protocol was performed. Results. We show our experience in the preparation of a list of critical values for POCT and the implementation of a protocol. Conclusions. Central laboratory experience was a key element in establishing the list of critical values and action protocol. A close collaboration between health care unit and laboratory was required to achieve the implementation of a POCT critical values protocol. The frequency of critical values and clinician experience were complementary tools to revise the list of critical values (AU)

Tablas para la estimación del filtrado glomerular mediante la nueva ecuación CKD-EPI a partir de la concentración de creatinina sérica / Tables for estimating the glomerular filtration rate using the new CKD-EPI equation from serum creatinine concentration

La enfermedad renal crónica (ERC) y las complicaciones que de ella se derivan se han convertido en un importante problema sanitario, tanto por los recursos que se requieren en los estadios finales de la enfermedad como por las complicaciones secundarias que conlleva, por lo que su diagnóstico precoz es considerado hoy de gran importancia. Las guías KDIGO 2013 recientemente publicadas basan la definición y clasificación de la ERC en los valores de filtrado glomerular y albuminuria como criterios de estadiaje y marcadores pronóstico de la enfermedad. Las ecuaciones MDRD y MDRD-IDMS (cuando se utilizan valores de creatinina obtenidos por métodos con trazabilidad al método de referencia) son las más utilizadas, pero tanto las guías internacionales KDIGO 2013 como el nuevo documento de consenso sobre la ERC 2013, en el que han participado diez sociedades científicas bajo la dirección de la Sociedad Española de Nefrología, recomiendan su sustitución por la ecuación CKD-EPI. Nuestro objetivo ha sido, tal y como hicimos con ecuaciones previas, elaborar unas tablas que permitan conocer el valor del filtrado glomerular estimado mediante la ecuación CKD-EPI a partir de la concentración sérica de creatinina, la edad y el sexo, y de este modo proporcionar un instrumento que facilite la difusión de esta nueva ecuación, especialmente en ámbitos en los que no se calcule de modo automático (AU)

Chronic kidney disease (CKD) and its complications have become a major healthcare problem, both due to the resources that are required in the final stages of the disease and to secondary complications. As such, its early diagnosis is considered to be very important nowadays. The recently published 2013 KDIGO guidelines base the definition and classification of CKD on glomerular filtration values and albuminuria as staging criteria and prognostic markers of the disease. The MDRD and MDRD-IDMS equations (when creatinine values can be traced to the reference method) are those most used, but both the 2013 KDIGO international guidelines and the new 2013 CKD consensus document, in which ten scientific societies participated under the direction of the Spanish Society of Nephrology, recommend to be replaced by the CKD-EPI equation. Our objective has been, as with previous equations, to develop tables that display the estimated glomerular filtration rate value using the CKD-EPI equation from serum creatinine concentration, age and sex, and thereby provide an instrument that facilitates the dissemination of this new equation, particularly in settings where it is not calculated automatically (AU)

Tables for estimating the glomerular filtration rate using the new CKD-EPI equation from serum creatinine concentration.

Chronic kidney disease (CKD) and its complications have become a major healthcare problem, both due to the resources that are required in the final stages of the disease and to secondary complications. As such, its early diagnosis is considered to be very important nowadays. The recently published 2013 KDIGO guidelines base the definition and classification of CKD on glomerular filtration values and albuminuria as staging criteria and prognostic markers of the disease. The MDRD and MDRD-IDMS equations (when creatinine values can be traced to the reference method) are those most used, but both the 2013 KDIGO international guidelines and the new 2013 CKD consensus document, in which ten scientific societies participated under the direction of the Spanish Society of Nephrology, recommend to be replaced by the CKD-EPI equation. Our objective has been, as with previous equations, to develop tables that display the estimated glomerular filtration rate value using the CKD-EPI equation from serum creatinine concentration, age and sex, and thereby provide an instrument that facilitates the dissemination of this new equation, particularly in settings where it is not calculated automatically.

Lanthanum carbonate for the control of hyperphosphatemia in chronic renal failure patients: a new oral powder formulation - safety, efficacy, and patient adherence.

Chronic kidney disease (CKD) is associated with very high mortality rates, mainly of cardiovascular origin. The retention of phosphate (P) and increased fibroblast growth factor-23 levels are common, even at early stages of CKD, due to disturbances in normal P homeostasis. Later, hyperphosphatemia appears, which has also been strongly associated with high mortality rates linked to P-mediated cardiovascular and procalcifying effects. Treatment guidelines for these patients continue to be poorly implemented, at least partially due to the lack of adherence to a P-restricted diet and P-binder therapy. Calcium-free P binders, such as lanthanum carbonate, have been associated with a decreased progression of vascular calcification, rendering them an important therapeutic alternative for these high cardiovascular risk CKD patients. Lanthanum carbonate has typically been available as chewable tablets, and the new presentation as an oral powder may provide a useful alternative in the therapeutic armamentarium. This powder is a tasteless, odorless, and colorless semisolid compound miscible with food. In a recent study in healthy individuals, the safety and efficacy of this novel form were evaluated, and it was concluded that it is well tolerated and pharmacodynamically equivalent to the chewable form. In the long run, individualization of preferences and treatments seems an achievable goal prior to final demonstration of improvements in hard outcomes in wide clinical trials in CKD patients.

[An open study evaluating the efficacy and security of magnesium and vitamin B(6) as a treatment of Tourette syndrome in children]. / Estudio piloto sin grupo control del tratamiento con magnesio y vitamina B(6) del síndrome de Gilles de la Tourette en niños.

BACKGROUND AND OBJECTIVE: We intended to ascertain the effectiveness and safety of oral solutions of magnesium and vitamin B(6) in alleviating the symptoms emerged during clinical exacerbations in children aged 7-14 years suffering from Tourette syndrome (TS). We also aimed to determine the mean and the standard deviation of such an improvement in order to estimate sample sizes in future assays with a control group. PATIENTS AND METHOD: The treatment under investigation was administered to children diagnosed with TS, in accordance with Diagnostic and Statistical Manual of Mental Disorders, fourth edition -IV, under conditions of clinical exacerbation. The effects were scored on the Yale Global Tics Severity Scale (YGTSS) at 0, 15, 30, 60 and 90 days. RESULTS: The total tics score decreased from 26.7 (t0) to 12.9 (t4) and the total effect on the YGTSS was a reduction from 58.1 to 18.8. Both results were statistically significant. With respect to the application of conventional treatment or otherwise, no significant differences were observed. No side effects were seen. CONCLUSIONS: The treatment assayed is safe and effective in reducing the harmful effects of TS in children. Further studies are needed, with a control group, and evaluation of different doses of the drugs.

Estudio piloto sin grupo control del tratamiento con magnesio y vitamina B6 del síndrome de Gilles de la Tourette en niños / An open study evaluating the efficacy and security of magnesium and vitamin B6 as a treatment of Tourette syndrome in children

FUNDAMENTO Y OBJETIVO: Estudiar la efectividad y seguridadde soluciones orales de magnesio y vitaminaB6 para disminuir los síntomas durante las exacerbacionesclínicas en niños de entre 7 y 14 añoscon síndrome de Gilles de la Tourette (SGT). Determinarla mejoría en la puntuación y su desviaciónestándar para estimar el tamaño muestral de futurosensayos con grupo control.PACIENTES Y MÉTODO: El tratamiento estudiado se administróa niños diagnosticados de SGT de acuerdocon el Manual Diagnóstico y Estadística de losTrastornos Mentales, cuarta edición, durante unaexacerbación clínica. La clínica se cuantificó mediantela Yale Global Tics Severity Scale (YGTSS) alos 0, 15, 30, 60 y 90 días de tratamiento.RESULTADOS: La puntuación de los tics pasó de 26,7(inicio) a 12,9 (a los 90 días de tratamiento) y lapuntuación total de la YGTSS pasó de 58,1 a18,8. Estos resultados fueron estadísticamente significativos.Con respecto a la aplicación o no detratamiento convencional, no observamos diferenciassignificativas en los resultados obtenidos. Nose registraron efectos secundarios.CONCLUSIONES: El tratamiento analizado es seguro yefectivo para reducir los síntomas del SGT en niños.Es necesario realizar estudios con un grupocontrol y diferentes dosis de fármacos para confirmarestos resultados

BACKGROUND AND OBJECTIVE: We intended to ascertainthe effectiveness and safety of oral solutions ofmagnesium and vitamin B6 in alleviating the symptomsemerged during clinical exacerbations in childrenaged 7-14 years suffering from Tourette syndrome(TS). We also aimed to determine the meanand the standard deviation of such an improvementin order to estimate sample sizes in future assayswith a control group.PATIENTS AND METHOD: The treatment under investigationwas administered to children diagnosed withTS, in accordance with Diagnostic and StatisticalManual of Mental Disorders, fourth edition -IV, underconditions of clinical exacerbation. The effectswere scored on the Yale Global Tics Severity Scale(YGTSS) at 0, 15, 30, 60 and 90 days.RESULTS: The total tics score decreased from 26.7(t0) to 12.9 (t4) and the total effect on the YGTSSwas a reduction from 58.1 to 18.8. Both resultswere statistically significant. With respect to theapplication of conventional treatment or otherwise,no significant differences were observed. No sideeffects were seen.CONCLUSIONS: The treatment assayed is safe and effectivein reducing the harmful effects of TS inchildren. Further studies are needed, with a controlgroup, and evaluation of different doses of thedrugs