La punción seca aumenta el rendimiento de salto en jugadores élite de vóley playa / Deep Dry Needling Enhances Jump Performance in Elite Beach Volleyball Players

El objetivo del presente estudio es evaluar si la aplicación de la punción seca en los puntos gatillo miofasciales latentes se asocia con cambios en el rendimiento de salto. Seis jugadores internacionales de vóley playa sub-21 recibieron tratamiento en el vasto lateral y medial. Se midió la altura de salto SJ y CMJ en cuatro sesiones: antes y después de la intervención (efecto agudo), 48 h y 7 días tras la intervención (efectos a largo plazo). Los jugadores mostraron una pequeña disminución post-intervención seguida de un aumento no significativo a las 48 h. Sin embargo, ambos tipos de salto dieron lugar a un aumento con efecto moderado muy probable tras una semana: 4,13 cm (+10,8%) y 3,54 cm (+8,9%) para SJ y CMJ, respectivamente. A pesar de este aumento significativo, la disminución del rendimiento post-test desalienta su uso inmediatamente antes de una competición. (AU)

The present study aims to assess whether Deep Dry Needling in latent Myofascial Trigger Points is associated with changes in jumping performance. Six Under-21 international beach volleyball players received intervention in vastus lateralis and medialis of the quadriceps. Three squat jump (SJ) and countermovement jump (CMJ) heights were measured in four sessions: pre- and post-intervention (acute effect), 48 h and 7 days after intervention (long-term effects). The players showed a small decrease after the intervention followed by a non-significant increase at 48 h. However, both jump types resulted in very likely moderate increase after one week of intervention: 4.13 cm (+10.8%) and 3.54 cm (+8.9%) for SJ and CMJ, respectively (3 times the smallest worthwhile change). Despite this significant increase, the decreased performance in post-test results discourages practitioners from using this technique just before a competition. (AU)

Effects of a High-Intensity Exercise Program on Weight Regain and Cardio-metabolic Profile after 3 Years of Bariatric Surgery: A Randomized Trial.

Weight regain is one of the most common problems in the long-term after bariatric surgery. It is unknown if high-intensity exercise programs applied in late phases of post-surgical follow-up could counteract this trend. After a 3-year follow-up, 21 patients underwent sleeve gastrectomy were randomized into an exercise group (EG, n = 11), that performed a 5-month supervised exercise program, and a control group (CG, n = 10), that followed the usual care. Body composition, cardiorespiratory fitness, glycaemia and blood cholesterol were evaluated before and after the intervention. Finally, the EG repeated the evaluations 2 months after the end of the exercise program. Both groups reached their maximum weight loss at the first year after surgery and showed significant weight regain by the end of the follow-up. After the exercise program, the EG showed reductions in fat mass (-2.5 ± 2.6 kg, P < 0.05), glycaemia (-13.4 ± 8.7 mg·dL-1, P < 0.01) and blood cholesterol (-24.6 ± 29.1 mg·dL-1, P < 0.05), whereas the CG during the same period showed increases in weight (1.5 ± 1.3 kg, P < 0.05) and fat mass (1.8 ± 0.9, P < 0.01). Two months after the end of the program, EG had increases in weight (1.1 ± 1.2 kg, P < 0.05), fat mass (2.6 ± 2.2 kg, P < 0.01), glycaemia (8.2 ± 11.6 mg·dL-1, P < 0.05) and blood cholesterol (20.0 ± 22.1 mg·dL-1, P < 0.05), when compared with the values after the exercise program. Therefore, in the medium-term after sleeve gastrectomy exercise may contribute to prevent weight regain and to reduce fat mass, glycaemia, and blood cholesterol.

Impact of Exercise on Body Composition and Cardiometabolic Risk Factors in Patients Awaiting Bariatric Surgery.

BACKGROUND: The role of exercise to achieve weight reductions in patients awaiting bariatric surgery has been little studied. The aim of this study was to describe the effects of an exercise program on body composition and cardiometabolic risk factors in patients awaiting bariatric surgery. METHODS: Twenty-three patients awaiting bariatric surgery were divided into two groups: (a) an exercise group (EG, n = 12) and (b) a control group (CG, n = 11). Both groups received the usual care prior to surgery, but the EG also performed a 12-week exercise program which combined endurance and resistance training. Body composition, cardiometabolic risk factors, physical fitness, basal metabolic rate, and quality of life were assessed at baseline and at the end of the study. RESULTS: After the exercise program, the EG achieved significant reductions in total weight (- 7.3 ± 4.1 kg, P < 0.01), fat mass (- 7.1 ± 4.7 kg, P < 0.01), and waist circumference (- 5.3 ± 2.1 cm, P < 0.01), while they maintained their fat-free mass and basal metabolic rate levels. Only the EG showed reductions in HbA1c (- 0.4 ± 0.45%, P < 0.05), systolic (- 10.5 ± 12.7 mmHg), and diastolic blood pressure (- 3.9 ± 5.2 mmHg, P < 0.05), as well as a decrease in waist-to-height ratio (- 0.032 ± 0.12, P < 0.01) and an improvement in quality of life. CONCLUSIONS: The implementation of an exercise program prior to bariatric surgery reduces fat mass and central obesity and improves cardiometabolic risk factors and quality of life, especially in the physical scales. TRIAL REGISTRATION: The study was registered at ClinicalTrials.gov (NCT03613766).

Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

Phosphomannomutase 2 deficiency (PMM2-CDG) patients may present as mild phenotypes, with the cerebellum frequently involved. In those cases, false-negative results in screening may occur when applying conventional biochemical procedures. Our aim was to report two patients with a diagnosis of PMM2-CDG presenting with mild clinical phenotype. Patient 1-at 9 months of age, she presented with just psychomotor delay, tremor, hypotonia, and slight lipodystrophy. Patient 2-she presented at 8 months of age with psychomotor delay, hand stereotypes, hypotonia, convergent bilateral strabismus, and tremor but no lipodystrophy. Routine biochemical parameters including blood count, clotting factors, proteins, and thyroid hormone were normal in both cases. Cranial MRI evidenced mild cerebellar atrophy with moderate vermis hypoplasia. In case 1, sialotransferrin pattern showed very slightly increased disialotransferrin with no asialotransferrin, and in case 2, the transferrin pattern was impaired in the first study but nearly normal in the second. Nevertheless, in all the samples, quantification of the patterns obtained by capillary zone electrophoresis analysis gave results out of the control range. High residual PMM2 activity was observed in both cases and the genetic analysis showed that patient 1 was heterozygous for c.722G>C (p.C241S) and c.368G>A (p.R123Q) mutations, and patient 2 showed the c.722G>C and the c.470T>C (p.F157S) mutations in the PMM2 gene. We would like to stress the importance of the use of sensitive semiquantitative methods of screening for CDG in order to achieve early identification of patients with mild phenotypes. Intentional tremor was an atypical but remarkable clinical feature in both cases, and the global cerebellar atrophy with vermis hypoplasia reinforced the early clinical suspicion of a PMM2-CDG disease.

Vanishing white matter disease associated with progressive macrocephaly.

Vanishing white matter disease (VWM) is one of the most frequent inherited childhood leukoencephalopathies. Five genes have been implicated in this disease ( EIF2B1-5), which encode the five subunits of translation initiation factor eIF2B. The disease has an autosomal recessive mode of inheritance. The age of onset and clinical severity vary widely. The diagnosis is based on magnetic resonance imaging (MRI) findings and is confirmed by molecular studies. We describe an affected female patient with a common and a novel mutation of the EIF2B5 gene, who demonstrated a progressive neurological and radiological deterioration. An unusual feature was her striking macrocephaly. She had an early clinical onset at two years of age and is currently still alive at 26 years of age.

Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome.

Rett syndrome was associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF) in 42-50% of European patients whereas approximately 93% of the patients from North-America had a normal CSF 5MTHF status. We determined the CSF folate status in Rett patients living in North- and South-Western Europe and measured serum folate receptor (FR) autoantibodies of the blocking type to explain the reduced folate transport across the choroid plexus. Irrespective of their MECP2 genotype and despite normal plasma folate values, 14 of 33 Rett patients (42%) had low CSF folate levels. Blocking FR autoantibodies were found in 8 of the Rett patients (24%), 6 of whom had low CSF folate levels. FR autoimmunity was primarily found within the group of Rett patients with low CSF folate status with a higher incidence in North-Western Europe. In Rett patients from North-America 74 of 76 girls had higher folate values in both serum and CSF than European patients. The food folate fortification in North-America may account for the higher folate levels and may prevent CFD in these Rett patients. FR autoimmunity occurred predominantly in Rett patients from North-Western Europe and may contribute to cerebral folate deficiency (CFD).

Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: treatment with folinic acid.

BACKGROUND: Previous studies in Rett syndrome (RS) patients suggested various abnormalities in biogenic amines, pterins, and folate values in cerebrospinal fluid (CSF). Our aim was to analyse these metabolites in CSF of 16 RS patients (age range: 2 - 23 years). Biogenic amines, pterins, and 5-methyltetrahydrofolate were measured by HPLC with electrochemical and fluorescence detection. RESULTS: CSF values of 5-methyltetrahydrofolate were decreased in 8 out of 16 RS patients (average: 53.6 nmol/L; range: 19 - 92) when compared with our reference values (average: 74.6 nmol/L; range: 45 - 127). These eight patients had epilepsy, while 4 out of 16 RS patients who did not have epilepsy showed normal CSF 5-methyltetrahydrofolate concentrations. Values of biogenic amines or pterins were decreased in four of the patients with low values of 5-methyltetrahydrofolate. No correlation was observed between CSF values of 5-methyltetrahydrofolate and pterins, biogenic amines, or age. Supplementation with folinic acid was applied in six out of the eight patients with CSF 5-methyltetrahydrofolate deficiency. An improvement was noticed in all cases. CONCLUSIONS: An important percentage of RS patients showed 5-methyltetrahydrofolate concentrations under the reference values. Therefore, analysis of CSF 5-methyltetrahydrofolate seems advisable in RS, especially in patients with epilepsy and those resistant to antiepileptic drugs.

Neurofibromatosis tipo I en la infancia / Type I neurofibromatosis in the child

La neurofibromatosis tipo 1 o enfermedad de Von Rechlinhausen es la más común de los síndromes neurocutáneos. Para el diagnóstico se precisan dos de los siguientes criterios: manchas café con leche, nódulos de Lisch, pecas axilares (freckling), glioma de nervio óptico, lesiones óseas y familiares afectos de primer grado. Se hereda de forma autosómica dominante, siendo frecuentes las mutaciones espontáneas. Objetivos.- Evaluar la incidencia de los criterios diagnósticos y otras manifestaciones clínicas.- Relacionar anomalías en la neuroimagen con el desarrollo psicomotor. Material y métodos. Hemos realizado un estudio retrospectivo de 126 pacientes, con neurofibromatosis tipo 1 en los últimos años. Evaluamos la incidencia de los criterios diagnósticos y otras manifestaciones clínicas. Resultados. La neuroimagen fue normal en el 59 por ciento de los casos. Las anormalidades más frecuentes fueron áreas hiperintensas en T2 en ganglios basales, tronco cerebral y cerebelo, la mayoría de ellas asintomáticas: Conclusiones. Nuestra serie revela una baja incidencia de manifestaciones clínicas. No se encontró correlación entre zonas de gliosis en la neuroimagen y las anomalías del desarrollo psicomotor. Los PEVs han demostrado ser útiles en el seguimiento de la dysfunctón de la vía óptica (AU)

Cerebrospinal fluid concentrations of idebenone in Friedreich ataxia patients.

We studied plasma and cerebrospinal fluid (CSF) concentrations of idebenone in five Friedreich ataxia patients on treatment with this antioxidant, and plasma and CSF ubiquinone-10 (Q (10)) concentrations in 15 controls. CSF idebenone concentrations were below the detection limit in 3 Friedreich ataxia patients and no association could be demonstrated between plasma and CSF idebenone values. Q (10) CSF concentrations (median: 2.25 nmol/L) were approximately 300 times lower than those of plasma (median: 0.77 micro mol/L). No correlation was observed between plasma and CSF Q (10) concentrations. A significantly positive correlation was observed between CSF total protein values (range 8.1 - 107.5 mg/dL; median: 29.5) and CSF Q (10) concentrations (Spearman test: r = 0.664; p = 0.01). Our findings suggest that less idebenone is distributed to the brain than to other tissues, although CSF does not appear to be an appropriate material for treatment monitoring of idebenone and other quinoid compounds.

Friedreich's ataxia: idebenone treatment in early stage patients.

BACKGROUND: Antioxidant therapy has been applied to Friedreich's ataxia patients. We assessed the effect of idebenone treatment in patients with Friedreich's ataxia. DESIGN: open-label trial. Nine Friedreich's ataxia patients (age range 11 - 19 years) were treated with idebenone (5 mg/kg/day). Patients were evaluated before the start of the therapy and throughout one year of treatment by International Cooperative Ataxia Rating Scales (ICARS) scores, neurophysiological investigations and echocardiographic measurements. Serum idebenone concentrations were measured by HPLC with electrochemical detection. The number of GAA repeats at the frataxin gene was analyzed by PCR. RESULTS: Serum idebenone concentrations ranged between 0.04 - 0.37 micro mol/L. Significantly positive correlation was observed between idebenone values and the percentage of difference between the ICARS scores before and 12 months after the start of the therapy (r = 0.883; p = 0.002). Significant reduction was observed comparing the ICARS scores in baseline conditions and after 3 months of treatment (p = 0.017). No differences were observed in echocardiographic measurements after the start of the therapy. CONCLUSIONS: Cerebellar improvement was notable in mild patients after the first 3 months of therapy. Idebenone treatment at early stages of the disease seems to reduce the progression of cerebellar manifestations. Further blind trials with a greater number of patients and higher doses are needed to fully assess the therapeutic potential of idebenone in Friedreich's ataxia.

[Midfacial necrosis secondary to cocaine-abuse]. / Necrosis mediofacial secundaria al abuso de cocaína.

Midfacial necrosis due to the abuse of inhaled cocaine is a new entity that is included in the differential diagnosis of the midline destructive diseases such as Wegener's granulomatosis, polymorphic reticulosis, nasal lymphoma, infections and the idiopathic midline destructive disease. We report the case of a forty-year-old male who presented necrosis of the nasosinusal tract and optic neuropathy as complications due to the abuse of inhaled cocaine for more than twenty years and a discussion about the differential diagnosis.

Necrosis mediofacial secundaria al abuso de cocaína / Midfacial necrosis secondary to cocaine-abuse

La necrosis mediofacial secundaria al abuso continuado de cocaína intranasal es una entidad de reciente descripción que se incluye dentro del diagnóstico de las lesiones que cursan con destrucción centrofacial como son la granulomatosis de Wegener, la reticulosis polimorfa o linfoma nasal, enfermedades infecciosas y el síndrome idiopático destructivo mediofacial. Aportamos el caso de un paciente varón de 40 años que presenta necrosis del tracto nasosinusal y una neuropatía óptica unilateral como complicaciones del abuso continuado de cocaína vía nasal durante más de 20 años así como una discusión acerca del diagnóstico diferencial. (AU)

Midfacial necrosis due to the abuse of inhaled cocaine is a new entity that is included in the differential diagnosis of the midline destructive diseases such as Wegener's granulomatosis, polymorphic reticulosis, nasal lymphoma, infections and the idiopathic midline destructive disease. We report the case of a forty-year-old male who presented necrosis of the nasosinusal tract and optic neuropathy as complications due to the abuse of inhaled cocaine for more than twenty years and a discussion about the differential diagnosis (AU)

3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome.

3-phosphoglycerate dehydrogenase deficiency is a severe but treatable disorder of serine synthesis, first described in 1996 (Jaeken et al. 1996a). The patient presented with West syndrome, severe psychomotor delay, failure to thrive, microcephaly, atypical ocular movements, and pyramidal signs. Treatment with oral L-serine abolished seizures and improved psychomotor development, hyperexcitability, head growth, cortical and subcortical hypotrophy, and hypomyelination of the brain on MRI scans. 3-phosphoglycerate dehydrogenase deficiency is a treatable congenital error that probably leads to West syndrome.

Sinusitis fúngica alérgica / Allergic fungal sinusitis

La sinusitis fúngica alérgica es una entidad clínica descrita reiteradamente que ha adquirido importancia creciente como causa de sinusitis crónica. Consiste en una enfermedad sinusal benigna, no invasiva, que está en relación con una reacción de hipersensibilidada antígenos fúngicos. Se debe sospechar en todo paciente atópico con poliposis nasal refractaria. Los hallazgos de tomografía axial computerizada (TAC) son característicos pero no diagnósticos. Para el diagnóstico es necesario demostrar la presencia de mucina alérgica en el estudio histopatológico y hifas con tinciones especiales para hongos. El tratamiento adecuado incluye la extracción de la mucina y aireación de los senos mediante cirugía endoscópica, el empleo de corticoides sistémicos postoperatorios y la inmunoterapia con antígenos fúngicos. Presentamos un caso de este tipo de sinusitis crónica describiendo los hallazgos radiológicos e histopatológicos característicos así como las teorías patogénicas y los últimos avances en inmunoterapia (AU)

Allergic fungal sinusitis is a recently described clinical entity that has gained increased attention as a cause of chronic sinusitis. Consist in a benign noninvasive sinus disease related to a hypersensitivity reaction to fungal antigens. It should be suspected in any atopic patient with refractory nasal polyps. Computed tomography (CT) findings are characteristics, but not diagnostic. Diagnosis requires show allergic mucin in the histopathologic examination and hiphae in special fungal stains. The suitable treatment includes the allergic mucin removal and sinus aeration accomplished endoscopically, perioperative systemic steroids and immunotherapy with fungal antigens. We present a case of this kind of chronic sinusitis describing the characteristic histopathologic and radiologic findings, the pathogenic theories and recent advances in immunotherapy (AU)

Arginine-rich peptides are blockers of VR-1 channels with analgesic activity.

Vanilloid receptors (VRs) play a fundamental role in the transduction of peripheral tissue injury and/or inflammation responses. Molecules that antagonize VR channel activity may act as selective and potent analgesics. We report that synthetic arginine-rich hexapeptides block heterologously expressed VR-1 channels with submicromolar efficacy in a weak voltage-dependent manner, consistent with a binding site located near/at the entryway of the aqueous pore. Dynorphins, natural arginine-rich peptides, also blocked VR-1 activity with micromolar affinity. Notably, synthetic and natural arginine-rich peptides attenuated the ocular irritation produced by topical capsaicin application onto the eyes of experimental animals. Taken together, our results imply that arginine-rich peptides are VR-1 channel blockers with analgesic activity. These findings may expand the development of novel analgesics by targeting receptor sites distinct from the capsaicin binding site.

[Allergic fungal sinusitis]. / Sinusitis fúngica alérgica.

Allergic fungal sinusitis is a recently described clinical entity that has gained increased attention as a cause of chronic sinusitis. Consist in a benign noninvasive sinus disease related to a hypersensitivity reaction to fungal antigens. It should be suspected in any atopic patient with refractory nasal polyps. Computed tomography (CT) findings are characteristics, but not diagnostic. Diagnosis requires show allergic mucin in the histopathologic examination and hiphae in special fungal stains. The suitable treatment includes the allergic mucin removal and sinus aeration accomplished endoscopically, perioperative systemic steroids and immunotherapy with fungal antigens. We present a case of this kind of chronic sinusitis describing the characteristic histopathologic and radiologic findings, the pathogenic theories and recent advances in immunotherapy.

Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism.

Peroxisomal disorder phenotypes are the result of mutations that cause defective peroxisomal assembly or alterations in the import mechanism of peroxisomal proteins that lead to multiple peroxisomal dysfunctions, or the result of a peroxisomal enzymatic deficiency with a single peroxisomal dysfunction. With complementation analysis, 16 groups have been found. Assignment of the genetic defect has been described for some of the complementation groups. We describe the clinical evolution and follow-up over 10 years of a patient who belongs to complementation group 4, although he showed a milder clinical course. It has been found in fibroblasts different peroxisome populations, normal processing and expression of beta-oxidation PTS1 and PTS2 proteins, abnormal ALD protein distribution and normal plasmalogen biosynthesis; abnormal beta-oxidation metabolites have also been detected in serum. Ultrastructural studies in liver showed peroxisomal mosaicism as in fibroblasts. It has been taken into account that peroxisomal mosaicism may lead to variability in peroxisomal diagnostic parameters, making difficult the final diagnosis in these patients.

[Rett's syndrome in the Spanish population]. / Estudio del síndrome de Rett en la población española.

INTRODUCTION AND OBJECTIVE: Rett syndrome was described in 1966 and became known through the English medical literature in 1983. There are typical and atypical forms. The objective of this study was to record the cases diagnosed in Spain and discover their clinical characteristics in order to describe its phenotype and geographical distribution. PATIENTS AND METHODS: We know of 207 cases and have obtained the records of 168 of these patients. A protocol and data collection programme has been developed giving the criteria for inclusion, and data which support or exclude this. Data collection was by post and the data for identification were the date of birth and the initials of the name and two surnames. With these variables, double-registering of patients was almost impossible. A statistical study with descriptive analysis and a study of continuous and alternating variables was immediately done. RESULTS AND CONCLUSION: The results gave the main characteristics, the differences between typical and atypical cases and a comparative study of variables. It has given clinical data which may be useful for prognosis of the condition in the future.