Assessment of male urinary incontinence postprostatectomy through the Consultation on Incontinence Questionnaire-Short Form.

OBJECTIVE: The objective of this study is to assess the correlation between the urinary incontinence results of the ICIQ-SF, and those obtained in the 1-hour and 24-hour pad tests, in a sample of men that underwent prostatectomy. MATERIAL AND METHODS: A prospective observational study was carried out in patients from the Integrated Management Area of Vigo (EOXI de Vigo) who underwent prostatectomy and suffered from urinary incontinence in the post-surgery period. Loss of urine was assessed by means of the 1-hour and 24-hour pad tests and the ICIQ-SF. A comparative analysis of the questionnaire findings was performed for both urinary incontinence tests. RESULTS: A correlation is observed between the ICIQ-SF and the amount of urine loss in the 1-hour and the 24-hour pad tests. However, the severity of urine loss established by instruments is less consistent. The 24-hour pad test is the one that obtained better correlation with the ICIQ-SF. CONCLUSIONS: The ICIQ-SF should be validated in a male population after prostatectomy in order to reinterpret the severity values observed in the different instruments studied. LEVEL OF EVIDENCE: 4.

Correlation between the 1-hour and 24-hour pad test in the assessment of male patients with post-prostatectomy urinary incontinence.

INTRODUCTION: This study is aimed at studying the correlation between the 1-hour and 24-hour pad tests for urinary incontinence following prostatectomy; the second objective is to check whether the severity level established by both tests is adequate for male urinary incontinence. MATERIAL AND METHODS: The study population includes patients who had undergone prostatectomy at a single center between February 2015 and December 2016, using 159 measurements consisting of 24-hour and 1-hour pad tests, belonging 45 patients. Both tests have been performed according to the protocol standardized by the International Continence Society. Once all the data have been obtained, the levels marked by each of the pads have been established, and the statistical analysis has started. RESULTS: The relationship between the amounts recorded in grams by the two test is highly significant (P=0.000), however, when comparing the incontinence levels established by each test (mild, moderate and severe), discrepancies have been found. The median of the severe cases in the 24-hour pad test was 389.5 grams, and in the 1-hour pad test was 92 grams. So, patient's loss values are well above the cut-off point defined for severe urinary incontinence in both 24-hour (50 grams) and 1-hour pad test (75 grams). CONCLUSIONS: There is a diagnostic discrepancy between the 24-hour pad test and the 1-hour pad test in terms of defined urinary incontinence severity levels. In our opinion, these levels should be redefined for male urinary incontinence since the amount of urine loss is well above the threshold established for severe incontinence. LEVEL OF EVIDENCE: 4.

[X-linked intellectual disability syndrome with macrocephaly due to BRWD3 gene deletion]. / Síndrome de discapacidad intelectual ligada a X con macrocefalia por deleción del gen BRWD3.

INTRODUCTION: Pathogenic variants in BRWD3 gene have been described as a rare cause of syndromic X-linked intellectual disability. Its phenotype shows neurodevelopmental delay with intellectual disability in all reported patients, facial dysmorphic features, macrocephaly, overgrowth and obesity. The great majority of cases yield point variants in the gene, only three large deletions including only the BRWD3 gene have been reported. The BRWD3 protein is an epigenetic reader that regulates chromatin remodeling. We report a boy with a compatible phenotype and a deletion including only this gene. CASE REPORT: Boy, without family and perinatal pathological background, with neurodevelopmental delay: psychomotor delay, speech delay and intellectual disability, macrocephaly (p > 99) and obesity. Phenotype with facial dysmorphic features: wide forehead, deep set eyes, bulbous nose, prominent ears and pointed chin. The array-CGH analysis showed a 586 kb deletion at Xq21.1 including only one gene with associated disorder, BRWD3. Afterwards, the deletion was also identified in his asymptomatic mother and sister. CONCLUSIONS: Our patient confirms that the haploinsufficiency due to BRWD3 deletion is a causal genetic mechanism of the BRWD3-related syndromic X-linked intellectual disability. It is important to recognize the phenotype for the diagnosis and follow up of the patients, and also to carry out the family genetic analysis in order to identify and give genetic counselling to the women who also have the genetic defect, because the majority of them are asymptomatic, as the mother and sister of our patient.

TITLE: Síndrome de discapacidad intelectual ligada a X con macrocefalia por deleción del gen BRWD3.Introducción. Variantes patógenas en el gen BRWD3 son la causa de un tipo poco frecuente de discapacidad intelectual sindrómica ligada a X. Su fenotipo se asocia a la alteración neuroconductual con discapacidad intelectual, dismorfia facial, macrocefalia, sobrecrecimiento y obesidad. La gran mayoría de los pacientes presenta variantes puntuales en el gen y sólo se han descrito tres casos con deleciones parciales que incluyen únicamente al gen BRWD3. Funcionalmente es un lector epigenético que regula la remodelación de la cromatina. Presentamos un varón con fenotipo compatible con una deleción que incluye sólo este gen asociado a patología. Caso clínico. Varón sin antecedentes familiares ni perinatales de interés con alteración en el neurodesarrollo: retraso psicomotor, retraso del lenguaje y discapacidad cognitiva, macrocefalia (p > 99) y obesidad. Fenotipo con dismorfia facial: frente amplia, ojos hundidos, nariz bulbosa, pabellones auriculares despegados y mentón afilado. Array de hibridación genómica comparada con deleción de 586 kb en Xq21.1, que incluye un único gen asociado a la patología, BRWD3. Posteriormente se realizó un estudio a la madre y a la hermana, asintomáticas, y ambas portan la deleción. Conclusiones. Nuestro caso confirma que la haploinsuficiencia debida a la deleción del gen BRWD3 es un mecanismo genético causal de la discapacidad intelectual sindrómica ligada a X asociada al gen BRWD3. Es importante reconocer el fenotipo para el diagnóstico y el seguimiento, así como la realización del estudio familiar para asesoramiento genético a las mujeres que porten la alteración, puesto que en la mayoría de los casos son asintomáticas, como la madre y la hermana de este paciente.

Jejunal arteriovenous malformation and multiple acquired extrahepatic portosystemic shunts in a juvenile dog, presenting with melena.

A juvenile dog referred with a 1-month history of persistent melena and severe anaemia, was diagnosed with a jejunal arteriovenous malformation, and multiple acquired extrahepatic portosystemic shunts. A midline coeliotomy was performed, the jejunal arteriovenous malformation was localised intraoperatively and was successfully removed via an enterectomy. Histopathology confirmed a true arteriovenous malformation. Despite the initial improvement, the patient developed seizure episodes secondary to hepatic encephalopathy 8 months after surgery. Fifteen months after surgery, the owner opted for euthanasia due to the ongoing seizure episodes. Post-mortem histologic examination of the liver showed features consistent with portal vein hypoplasia. A congenital arteriovenous malformation should be considered as a differential diagnosis in juvenile patients with a chronic history of haemorrhage from the gastrointestinal tract. In addition, acquired portosystemic shunts may occur in patients with portal vein hypoplasia and jejunal arteriovenous malformations.

[Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness]. / Síndrome de rotura de Varsovia: una causa de microcefalia congénita y sordera neurosensorial.

INTRODUCTION: Warsaw breakage syndrome is a very rare genetic disorder due to biallelic pathogenic variants in DDX11 gene, with a role in the sister chromatid cohesion process, and classified in the cohesinophaties group. It is characterized by the clinical triad of growth restriction, microcephaly and sensorineural deafness. Additional, but less frequent features, are facial dysmorphism, and skeletal, heart, skin and genitourinary anomalies. CASE REPORT: We report a boy with the cardinal features of the syndrome: prenatal growth restriction, severe congenital microcephaly, and sensorineural deafness with cochlear nerves agenesis. He also has a cardiac anomaly, hypospadias, cryptorchidism, skin abnormality, and pes planus. The exome yielded two heterozygous likely pathogenic variants in the DDX11 gene, c.1403dup; p.(Ser469Valfs*32) and c.2371C>T; p.(Arg791Trp), inherited in trans from the parents. CONCLUSION: We review the clinical and genetic data of the 23 reported cases with the syndrome in the literature and analyze the etiopathogenic interpretation of our case variants based on the molecular and cellular functions of DDX11 described. Due to the clinical overlap with the chromosomal breakage syndromes and cohesinopathies we must make the differential diagnosis with these entities, overall, with Fanconi anemia, Nijmegen breakage syndrome, Cornelia de Lange syndrome and Roberts syndrome. In clinical practice we must think in Warsaw breakage syndrome in the neonatal period in a patient with intrauterine growth restriction, severe microcephaly, and sensorineural deafness.

TITLE: Síndrome de rotura de Varsovia: una causa de microcefalia congénita y sordera neurosensorial.Introducción. El síndrome de rotura de Varsovia es una alteración genética muy poco frecuente originada por variantes patógenas bialélicas en el gen DDX11, implicado en la cohesión de las cromátidas hermanas, que pertenece al grupo de las cohesinopatías. Clínicamente se caracteriza por retraso del crecimiento, microcefalia y sordera neurosensorial, con otras manifestaciones menos frecuentes: dismorfia facial, anomalías esqueléticas, cardíacas, cutáneas y genitourinarias. Caso clínico. Presentamos a un varón con las manifestaciones cardinales del síndrome: bajo peso en el nacimiento, microcefalia congénita grave y sordera neurosensorial con agenesia de los nervios cocleares. También presenta cardiopatía, hipospadias, criptorquidia, anomalía cutánea y pies planos. En el exoma se han identificado dos variantes en heterocigosis probablemente patógenas en el gen DDX11, c.1403dup; p.(Ser469Valfs*32) y c.2371C>T; p.(Arg791Trp), heredadas cada una de un progenitor. Conclusión. Revisamos a los 23 pacientes descritos con el síndrome en la bibliografía, tanto desde el punto de vista clínico como desde el genético. Analizamos el significado etiopatógeno de las variantes de nuestro caso basándonos en los datos moleculares y las funciones celulares de DDX11 de los estudios publicados. Debido al solapamiento clínico con los síndromes con rotura cromosómica y las cohesinopatías, debemos realizar el diagnóstico diferencial con estas entidades, fundamentalmente la anemia de Fanconi, el síndrome de rotura de Nijmegen, el síndrome de Cornelia de Lange y el síndrome de Roberts. En la práctica clínica, debemos sospechar este síndrome en el período neonatal en un paciente con retraso del crecimiento intrauterino, microcefalia grave y sordera neurosensorial.

Opsoclonus-myoclonus syndrome: Clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort.

INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. METHODS: We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients. RESULTS: The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses. CONCLUSIONS: Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.

Tillaux fracture in adults - Case report and review of literature.

Avulsion fractures of the distal tibia resulting from anterior inferior tibiofibular ligament are known as Tillaux fractures. This injury is usually seen among adolescents as a Salter Harris type 3 epiphysiolisis in relation to bone weakness in distal tibia due to ephiphyseal closure. Regarding adult patients, this pattern of fracture become such an atypical one due to supposed failure of ligament previous to bone, avoiding avulsion. However, some cases have been described in recent decades.The purpose of the present study is to present an adult Tillaux case and add an exhaustive review of literature regarding mechanism of injury, associated lesions, treatment, postoperative care and follow up. LEVEL OF EVIDENCE: Level V.

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice site mutation (c.1935+3A>C). A recurrent mutation (p.R656X) was detected in three independent families. We did not find any evidence for phenotype-genotype correlations between type and position of mutations and clinical features. In addition to the well-established phenotypic features of AAS, other clinical features are also reported and discussed.

[Benefits of robotics in gait rehabilitation in cerebral palsy: A systematic review]. / Beneficios de la robótica en la rehabilitación de la marcha en la parálisis cerebral: una revisión sistemática.

BACKGROUND AND AIM: Cerebral palsy is the most common motor disability in childhood, with an estimated incidence of two out of every 1,000 live births. The impairment mostly affects gait. The aim of rehabilitation programmes is to enhance independence in affected individuals, especially mobility. To do this, robot-assisted gait rehabilitation programmes have been developed. Therefore, this study aimed to identify the benefits of robotics in gait rehabilitation in cerebral palsy. MATERIAL AND METHODS: We performed a literature search using the MeSH terms «cerebral palsy¼, «robotics¼ and «gait¼. RESULTS: After applying the selection criteria, we obtained 10 research studies and three protocols analysing the benefits of robotics in cerebral palsy and demonstrating that their use provides major advantages.

Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort. / Síndrome opsoclono-mioclono: características clínicas, aspectos terapéuticos y factores pronósticos en una cohorte pediátrica española.

INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. METHODS: We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients. RESULTS: The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses. CONCLUSIONS: Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.

Radiographic analysis of trochlear notch sclerosis in the diagnosis of osteoarthritis secondary to medial coronoid disease.

Trochlear notch sclerosis (TNS) as assessed by radiography has been shown to be increased in elbow dysplasia (ED) associated medial coronoid process disease (MCD). The aims of this study were to investigate whether two defined radiographic tests evaluating TNS would increase the sensitivity of detecting osteoarthritis secondary to MCD, and to assess whether there was a correlation between increasing TNS with severity of MCD. Sixty-one dogs with MCD (121 elbows) were selected from the imaging database. The controls were nine cadavers (18 disease-free elbows). Standard International Elbow Working Group radiographs and CT scans were taken of each elbow. Plain radiographs were analysed using various assessments: osteophyte grade (0-3), coronoid grade (0-3), TNS descriptive grade (0-3) and TNS ratio. The TNS ratio was calculated from the depth of ulnar sclerosis at the level of the disto-cranial margin of the humeral condyles divided by the cranio-caudal ulna depth. The TNS descriptive assessment and ratio both increased the overall sensitivity of diagnosing osteoarthritis secondary to MCD above the other radiographic tests. The sensitivity of the TNS ratio at <0.3 mm was 91%-96% and the TNS descriptive assessment was 77%-96%. Radiographic TNS significantly increased with increasing severity of coronoid disease grade as evaluated by CT p < 0.01. The finding that TNS increases the sensitivity of diagnosing osteoarthritis secondary to MCD is valuable to those that have neither a CT scanner nor arthroscopy readily available. The assessments described in this study are easy to apply and do not require any sophisticated technology in order to detect sclerosis.

[What is the best exercise for rehabilitation of abdominal diastasis rehabilitation?] / ¿Cuál es el mejor ejercicio para la rehabilitación de la diástasis abdominal?

The aim of this study was to analyse the scientific literature to identify the different types of exercises that influence inter-rectus distance with a view to subsequently including them in the treatment of diastasis rectus abdominis. A search made in the CINHAL, PEDRo, Pubmed, and Scopus databases. Fourteen valid articles were included in the analysis. The articles were divided into 2 groups: those analysing exercise with an immediate effect and those presenting an exercise programme with a delayed effect (long term); the most commonly used exercise was the curl-up. There is a lack of consensus on the effects of the different types of exercises evaluated on inter-rectus distance. However, curl ups decrease inter-rectus distance when it is checked immediately. Abdominal muscle training through an exercise programme helps to reduce inter-rectus distance but the optimal exercises to include in an exercise programme remain to be elucidated.

[Circumstances that may decrease the reliability of instruments to assess male urinary incontinence]. / Circunstancias que pueden disminuir la fiabilidad de los instrumentos para valorar la incontinencia urinaria masculina.

OBJECTIVE: To identify situations that may alter the results of the 1-hour and 24-hour Pad test and the short-form International Consultation in Incontinence Questionnaire (SF-ICIQ). PARTICIPANTS: Five physiotherapists, who conducted the interviews and treatment of 81 patients undergoing radical prostatectomy. METHOD: A qualitative descriptive phenomenological study was carried out, using a focus group technique with five people (4 women and 1 man) responsible for the treatment and assessment of patients with urinary incontinence after prostatectomy. Recordings were transcribed and the Atlas.ti7 programme was used to carry out the coding of the variables. RESULTS: Important factors were identified in the use of measuring instruments for the diagnosis and assessment of urinary incontinence in all the tools used. CONCLUSIONS: Some situations can modify the objectivity of the various tests for the assessment of urinary incontinence. Some of the factors identified were lower fluid intake, less activity, use of manual clamp or urinals to avoid leakage, as well as the interference of certain drugs.

Cell fishing: A similarity based approach and machine learning strategy for multiple cell lines-compound sensitivity prediction.

The prediction of cell-lines sensitivity to a given set of compounds is a very important factor in the optimization of in-vitro assays. To date, the most common prediction strategies are based upon machine learning or other quantitative structure-activity relationships (QSAR) based approaches. In the present research, we propose and discuss a straightforward strategy not based on any learning modelling but exclusively relying upon the chemical similarity of a query compound to reference compounds with annotated activity against cell lines. We also compare the performance of the proposed method to machine learning predictions on the same problem. A curated database of compounds-cell lines associations derived from ChemBL version 22 was created for algorithm construction and cross-validation. Validation was done using 10-fold cross-validation and testing the models on new data obtained from ChemBL version 25. In terms of accuracy, both methods perform similarly with values around 0.65 across 750 cell lines in 10-fold cross-validation experiments. By combining both methods it is possible to achieve 66% of correct classification rate in more than 26000 newly reported interactions comprising 11000 new compounds. A Web Service implementing the described approaches (both similarity and machine learning based models) is freely available at: http://bioquimio.udla.edu.ec/cellfishing.

Síndrome de rotura de Varsovia: una causa de microcefalia congénita y sordera neurosensorial / Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness

Introducción: El síndrome de rotura de Varsovia es una alteración genética muy poco frecuente originada por variantes patógenas bialélicas en el gen DDX11, implicado en la cohesión de las cromátidas hermanas, que pertenece al grupo de las cohesinopatías. Clínicamente se caracteriza por retraso del crecimiento, microcefalia y sordera neurosensorial, con otras manifestaciones menos frecuentes: dismorfia facial, anomalías esqueléticas, cardíacas, cutáneas y genitourinarias. Caso clínico: Presentamos a un varón con las manifestaciones cardinales del síndrome: bajo peso en el nacimiento, microcefalia congénita grave y sordera neurosensorial con agenesia de los nervios cocleares. También presenta cardiopatía, hipospadias, criptorquidia, anomalía cutánea y pies planos. En el exoma se han identificado dos variantes en heterocigosis probablemente patógenas en el gen DDX11, c.1403dup; p.(Ser469Valfs*32) y c.2371C>T; p.(Arg791Trp), heredadas cada una de un progenitor. Conclusión: Revisamos a los 23 pacientes descritos con el síndrome en la bibliografía, tanto desde el punto de vista clínico como desde el genético. Analizamos el significado etiopatógeno de las variantes de nuestro caso basándonos en los datos moleculares y las funciones celulares de DDX11 de los estudios publicados. Debido al solapamiento clínico con los síndromes con rotura cromosómica y las cohesinopatías, debemos realizar el diagnóstico diferencial con estas entidades, fundamentalmente la anemia de Fanconi, el síndrome de rotura de Nijmegen, el síndrome de Cornelia de Lange y el síndrome de Roberts. En la práctica clínica, debemos sospechar este síndrome en el período neonatal en un paciente con retraso del crecimiento intrauterino, microcefalia grave y sordera neurosensorial.(AU)

Introduction: Warsaw breakage syndrome is a very rare genetic disorder due to biallelic pathogenic variants in DDX11 gene, with a role in the sister chromatid cohesion process, and classified in the cohesinophaties group. It is characterized by the clinical triad of growth restriction, microcephaly and sensorineural deafness. Additional, but less frequent features, are facial dysmorphism, and skeletal, heart, skin and genitourinary anomalies. Case report: We report a boy with the cardinal features of the syndrome: prenatal growth restriction, severe congenital microcephaly, and sensorineural deafness with cochlear nerves agenesis. He also has a cardiac anomaly, hypospadias, cryptorchidism, skin abnormality, and pes planus. The exome yielded two heterozygous likely pathogenic variants in the DDX11 gene, c.1403dup; p.(Ser469Valfs*32) and c.2371C>T; p.(Arg791Trp), inherited in trans from the parents. Conclusion: We review the clinical and genetic data of the 23 reported cases with the syndrome in the literature and analyze the etiopathogenic interpretation of our case variants based on the molecular and cellular functions of DDX11 described. Due to the clinical overlap with the chromosomal breakage syndromes and cohesinopathies we must make the differential diagnosis with these entities, overall, with Fanconi anemia, Nijmegen breakage syndrome, Cornelia de Lange syndrome and Roberts syndrome. In clinical practice we must think in Warsaw breakage syndrome in the neonatal period in a patient with intrauterine growth restriction, severe microcephaly, and sensorineural deafness.(AU)

Síndrome opsoclono-mioclono: características clínicas, aspectos terapéuticos y factores pronósticos en una cohorte pediátrica española / Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort

Introducción: El síndrome opsoclono-mioclono-ataxia es un raro trastorno de inicio pediátrico; de base neuroinflamatoria y origen paraneoplásico, parainfeccioso o idiopático. Actualmente no hay biomarcadores, siendo el diagnóstico clínico. El pronóstico cognitivo parece estar relacionado con el inicio temprano de la terapia inmunomoduladora.MétodoSe describen las características epidemiológicas, clínicas, terapéuticas y pronósticas a largo plazo de una cohorte de 20 pacientes españoles.ResultadosLa edad media de debut fue de 21 meses (2-59 meses). La ataxia y el opsoclonus fueron los síntomas de inicio más frecuentes y predominantes en la evolución. El tiempo medio desde los primeros síntomas hasta el diagnóstico fue de 1,1 mes. Un tumor de extirpe neuroblástica fue detectado en el 45%, realizándose resección quirúrgica en siete y quimioterapia en dos pacientes. En el estudio de líquido cefalorraquídeo se constató pleocitosis en cuatro (25%), con negatividad de anticuerpos antineuronales y bandas oligoclonales en todos los casos estudiados. En el 100% se emplearon fármacos inmunomoduladores. En nueve pacientes el tratamiento combinado inmunomodulador se inició desde el momento del diagnóstico, y en cinco el tiempo medio de implementación fue de 2,2 meses. A largo plazo, seis de 10 pacientes con seguimiento superior a cinco años presentaban secuelas cognitivas leves o moderadas; cuatro pacientes presentaron recaídas, generalmente coincidiendo con el descenso de la corticoterapia.ConclusionesEl inicio precoz de la inmunoterapia, así como de la triple terapia en los casos que lo precisaron, se relacionó con una menor frecuencia de afectación cognitiva a los dos años del debut. (AU)

Introduction: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy.MethodsWe describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients.ResultsThe mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses.ConclusionsEarly initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset. (AU)

Efectividad de la fisioterapia para el abordaje del dolor en la dismenorrea primaria / Effectiveness of physiotherapy for pain management in primary dysmenorrhoea

El objetivo en este estudio es evaluar la eficacia de las diferentes modalidades de fisioterapia para el tratamiento de la dismenorrea primaria. Métodos: Se ha llevado a cabo una revisión de la literatura científica actual mediante una búsqueda durante enero y febrero de 2021 en las bases de datos: PubMed, SPORTDiscus, Medline, CINAHL y Web of Science. Los descriptores MeSH utilizados fueron: «Dysmenorrhea», «Exercise Therapy» y «Physical Therapy Modalities». Resultados: Se han incluido y analizado 13 estudios, que fueron agrupados para un mejor análisis según el tipo de intervención: ejercicio terapéutico, electroestimulación transcutánea y termoterapia, kinesiotape, masaje de tejido conectivo, punción seca y acupuntura. La variable común en todos los estudios fue la evaluación de la intensidad del dolor menstrual, el cual se redujo al aplicar las distintas modalidades de fisioterapia. Conclusión: Las técnicas de fisioterapia planteadas en la revisión parecen ser una herramienta efectiva en el tratamiento de mujeres con dismenorrea primaria. Sin embargo, se necesitan más estudios que analicen los efectos a largo plazo.(AU)

The aim of this study is to evaluate the efficacy of different physical therapy modalities for the treatment of primary dysmenorrhoea. Methods: A review of the current scientific literature was conducted by searching during January and February 2021 the databases: PubMed, SPORTDiscus, Medline, CINAHL, and Web of Science. The MeSH descriptors used were: “Dysmenorrhea”, “Exercise Therapy” and “Physical Therapy Modalities”. Results: Thirteen studies were included and analysed, and were grouped for better analysis according to the type of intervention: therapeutic exercise, transcutaneous electrostimulation and thermotherapy, kinesiotape, connective tissue massage, dry needling, and acupuncture. The common variable in all the studies was the evaluation of the intensity of menstrual pain, which reduced when the different physical therapy modalities were applied. Conclusion: The physical therapy techniques proposed in the review seem to be an effective tool in the treatment of women with primary dysmenorrhoea. However, more studies are needed to analyse the long-term effects.(AU)

Uso terapéutico del método de restricción de flujo sanguíneo para la mejora de la fuerza muscular. Una revisión sistemática / Therapeutic use of the blood flow restriction training on muscle strength. A systematic review

Introducción: El método de restricción de flujo sanguíneo implica la ejecución de ejercicio de resistencia de baja intensidad combinado con restricción de flujo sanguíneo proporcionada por un manguito inflable o un torniquete colocado proximal al músculo. El objetivo de este trabajo es analizar la bibliografía científica actual para conocer el uso del método de restricción de flujo sanguíneo para la mejora de la fuerza muscular. Material y métodos: Se llevó a cabo una búsqueda bibliográfica en las bases de datos científicas PubMed, Medline, Cinhal, Sport Discus, Scopus, Web of Science y PEDro. Los descriptores empleados fueron: «Physical Therapy Modalities», «Physical Therapy», «Rehabilitation», «Muscle Strength», «Blood Flow Restriction Training» y «Blood Flow Restriction». Se incluyeron ensayos clínicos aleatorizados publicados en los últimos 5 años. Resultados: Se analizaron 13 artículos que fueron agrupados en tres tipos de población de estudio sobre los que se analiza la restricción del flujo sanguíneo: sujetos con patología de rodilla, en personas mayores y en personas sin patología. Se observaron mejoras significativas para la fuerza muscular con la aplicación de restricción de flujo sanguíneo en los tres grupos de estudio. Conclusión: La restricción de flujo sanguíneo ha demostrado ser un método válido en fisioterapia para la mejora de la fuerza muscular en sujetos con patología de rodilla, en personas mayores y en personas sanas. Se puede considerar un método eficaz para ganar fuerza muscular y a su vez ser una alternativa a los programas de mejora de la fuerza convencionales. (AU)

Introduction: Restriction blood flow training implies low intensity endurance exercises combined with blood flow restriction by an inflatable cuff or tourniquet placed proximal to the muscle. The aim of this study is to analyze the scientific literature about the use of restriction blood flow training to improve muscle strength. Material and methods: A systematic search was carried out in Pubmed, Medline, Cinahl, Sport Discus, Scopus, Web Of Science and PEDro. The descriptors used were «Physical Therapy Modalities», «Physical Therapy», «Rehabilitation», «Muscle Strength», «Blood Flow Restriction Training» and «Blood Flow Restriction». Randomized clinical trials published in the last 5years were included. Results: Thirteen articles were studied in this systematic review, grouped into three types of study population on which blood flow restriction was analyzed: subjects with knee pathology, elderly people and people without pathology. Significant improvements in muscle strength were observed with the application of blood flow restriction in all three study groups. Conclusion: Blood flow restriction has proven to be a valid method in physical therapy for the improvement of muscle strength in subjects with knee pathology, in elderly people and in healthy people. It can be considered an effective method to gain muscle strength and at the same time be an alternative to conventional strength improvement programs. (AU)

Antiresorptive treatment, when initiated after a first hip fracture, may not protect of a second contralateral episode in elderly population: A study with 685 patients.

INTRODUCTION: Osteoporosis predisposes for a higher risk of hip fracture and its treatment is frequently underprescribed. Our purpose was to assess the relation between having a second hip fracture and receiving osteoporosis treatment. Also to assess the relation between this second fracture and using central nervous system drugs or being institutionalised. PATIENTS AND METHODS: We reviewed all the patients that were admitted to our hospital with an osteoporotic proximal femoral fracture between September 2009 and February 2011. We identified 685 patients, 74 of which presented a contralateral fracture. We evaluated if they were receiving osteoporosis treatment or taking any medication that could affect the central nervous system and if they were institutionalised. RESULTS: A 10.8% of patients had a second fracture and the mean time between the two of them was 20 months (1-122). There was a clear female predominance (76.35%). The mean age at occurrence of the primary fracture was 83.02 years and 85 for the second. A 90.8% did not follow any type of osteoporosis medication before the first fracture. A 50.9% did not receive central nervous system drugs and 79.1% lived at home at the time of the first fracture. 12.8% of the patients that did not follow the osteoporosis treatment, had a contralateral fracture, 3% more than those that did follow some kind of treatment, but this difference was not significant (p=0.2). DISCUSSION: We identified a similar number of patients undergoing osteoporotic treatment as registered in literature. There was no significant difference between suffering a second hip fracture and following osteoporosis treatment, using psychotropic drugs or being institutionalised.