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Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1BCSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. Methods: Clinicians entered clinical data in an extensive webbased survey. Results: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. Conclusion: There are only minor differences between ARID1BID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features., We are grateful for the assistance of Pepijn Cox in setting up the website www.arid1bgene.com. This study has made use of data generated by the Human Disease Genes website series, www.humandiseasegenes.com. This work was financially supported by grants from the Netherlands Organisation for Health Research and Development (917-86-319 to B.B.A.d.V., 912-12-109 to B.B.A.d.V.)

Introducción: la citología cérvico-vaginal es una prueba de tamizaje para detectar las Neoplasias Intra-Cervicales (NIC), que ha disminuido la incidencia y la mortalidad por Cáncer de Cuello Uterino (CCU). El diagnóstico del NIC es más frecuente entre los 20 y 30 años y el de CCU tiene una mayor frecuencia entre los 30 y 40 años. Desde 1983 a 1991 la tasa de mortalidad por CCU en Colombia fue de 6,5/100.000 habitantes y el 50% de estos casos murieron por diagnóstico tardío. Aunque se divulga que la infección por el papilomavirus es la causa necesaria, no es suficiente para el desarrollo del CCU. Objetivo: determinar una relación entre Virus del Papiloma Humano (VPH) y el desarrollo de NIC y CCU. Materiales y métodos: se revisaron 11.992 citologías vaginales en el período de un año, y a las VPH positivas por patología se les realizó biopsia de cérvix. Resultados: hay mayor probabilidad de adquirir VPH entre los 30 y 39 años, que se reduce en menores de 19 y mayores de 50 años. Con la sola presencia del virus la probabilidad de desarrollar NIC-I es de 5.8%, la de desarrollar NICII-III es de 0.29% y la de desarrollar CCU es de 0.08%. Conclusiones: se encontraron 9 casos de CCU en 735 citologías con VPH diagnosticadas por patología, que corresponde al 1.2%; y una probabilidad del 0.08% para el desarrollo del cáncer, teniendo en cuenta solo la presencia del VPH. Este resultado sugiere que se necesitan otros factores para el desarrollo del cáncer

Background: Flexion-rotation test predominantly measures rotation in C1-2 segment. Restriction in flexion-rotation may be due to direct limitation in C1-2, but also to a premature tightening of the alar ligament as a result of lack of movement in C0-1 or C2-3. The aim of this study was to compare the effect of a 20-min single cervical exercise session, with or without manual therapy of C0-1 and C2-3 segment in flexion-rotation test, in patients with chronic neck pain and positive flexion-rotation test. Methods: Randomized controlled clinical trial in 48 subjects (24 manual therapy+exercise/24 exercise). Range of motion and pain during flexion-rotation test, neck pain intensity and active cervical range of motion were measured before and after the intervention. Results: Significant differences were found in favour of the manual therapy group in the flexion-rotation test: right (p &lt, 0.001) and left rotation (p &lt, 0.001), pain during the flexion-rotation test: right (p &lt, neck pain intensity: (p &lt, cervical flexion (p &lt, 0.038), extension (p &lt, 0.010), right side-bending (p &lt, 0.035), left side-bending (p &lt, 0.002), right rotation (p &lt, 0.001), and left rotation (p &lt, 0.006). Conclusions: Addition of one C0-C1 and C2-C3 manual therapy session to cervical exercise can immediately improve flexion-rotation test and cervical range of motion and reduce pain intensity.

Introduction: Neck pain is a condition with a high incidence in primary care. Patients with chronic neck pain often experience reduction in neck mobility. However, no study to date has investigated the effects of manual mobilization of the upper cervical spine in patients with chronic mechanical neck pain and restricted upper cervical rotation. Objective: To evaluate the effect of adding an upper cervical translatoric mobilization or an inhibitory suboccipital technique to a conventional physical therapy protocol in patients with chronic neck pain test on disability and cervical range of motion. Design: Randomized controlled trial. Methods: Seventy-eight patients with chronic neck pain and restricted upper cervical rotation were randomized in three groups: Upper cervical translatoric mobilization group, inhibitory suboccipital technique group, or control group. The neck disability index, active cervical mobility, and the flexion&ndash, rotation test were assessed at baseline (T0), after the treatment (T1), and at three-month follow-up (T2). Results: There were no statistically significant differences between groups in neck disability index. The upper cervical translatoric mobilization group showed a significant increase in the flexion&ndash, rotation test to the more restricted side at T1 (F = 5.992, p &lt, 0.004) and T2 (F = 5.212, 0.007) compared to the control group. The inhibitory suboccipital technique group showed a significant increase in the flexion&ndash, rotation test to the less restricted side at T1 (F = 3.590, 0.027). All groups presented high percentages of negative flexion&ndash, rotation tests. (T1: 69.2% upper neck translator mobilization group, 38.5% suboccipital inhibition technique group, 19.2% control group, at T2: 80.8%, 46.2% and 26.9% respectively). No significant differences in the active cervical mobility were found between groups. Conclusion: Adding manual therapy to a conventional physical therapy protocol for the upper cervical spine increased the flexion&ndash, rotation test in the short- and mid-term in patients with chronic neck pain. No changes were found in the neck disability index and the global active cervical range of motion.

Purpose: This study aim was to compare the effectiveness of the median nerve neural mobilization (MNNM) and cervical lateral glide (CLG) intervention versus oral ibuprofen (OI) in subjects who suffer cervicobrachial pain (CP). Methods: This investigation was a, multicenter, blinded, randomized controlled clinical trial (NCT02595294; NCT02593721). A number of 105 individuals diagnosed with CP were enrolled in the study and treated in 2 different medical facilities from July to November 2015. Participants were recruited and randomly assigned into 3 groups of 35 subjects. Intervention groups received MNNM or CLG neurodynamic treatments, and the (active treatment) control group received an OI treatment for 6 weeks. Primary outcome was pain intensity reported through the Numeric Rating Scale for Pain (NRSP). Secondary outcomes were physical function involving the affected upper limb using the Quick DASH scale, and ipsilateral cervical rotation (ICR) using a cervical range of motion (CROM) device. Assessments were performed before and 1 hour after treatment for NRSP (baseline, 3 and 6 weeks) and CROM (baseline and 6 weeks), as well as only 1 assessment for Quick DASH (baseline and 6 weeks). Results: Repeated-measures ANOVA intergroup statistically significant differences were shown for CP intensity (F(2,72) = 22.343; P < .001; Eta2 = 0.383) and Quick DASH (F(2,72) = 15.338; P < .001; Eta2 = 0.299), although not for CROM (F(2,72) = 1.434; P = .245; Eta2 = 0.038). Indeed, Bonferroni´s correction showed statistically significant differences for CP intensity (P < .01; 95% CI = 0.22 - 3.26) and Quick DASH reduction (P < .01; 95% CI = 8.48 - 24.67) in favor of the OI treatment at all measurement moments after baseline. Conclusions: OI pharmacologic treatment may reduce pain intensity and disability with respect to neural mobilization (MNNM and CLG) in patients with CP during six weeks. Nevertheless, the non-existence of between-groups ROM differences and possible OI adverse effects should be considered. Sin financiación 2.333 JCR (2018) Q2, 53/160 Medicine, General and Internal 0.834 SJR (2018) Q2, 740/2844 Medicine (miscellaneous) No data IDR 2018 UEM

RESUMEN Objetivo: el propósito de este estudio fue establecer un factor asociativo que relacione la morfología del sistema cráneo - cervical con el nivel de inteligibilidad articulatoria del habla en sujetos jóvenes. Métodos: estudio transversal, consideró una muestra de 42 jóvenes universitarios de un universo de 140, ambos sexos, sin antecedentes mórbidos y con un rango de edad entre 18 y 21 años. Se evalúo: a) inteligibilidad articulatoria mediante el coeficiente de variación periódica diadococinética, b) parámetros posturales estáticos tradicionales mediante método fotogramétrico y c) patrón postural cefálico mediante radiografía cefalométrica lateral. Resultados: se encontraron 36 sujetos con inteligibilidad adecuada y 6 alterada, donde la variable rotación cráneo cervical antero-posterior presentó diferencias estadísticamente significativas (p= 0,009) entre el grupo con inteligibilidad normal respecto al grupo con inteligibilidad alterada. El análisis de regresión lineal evidenció que sujetos que presentan rotación posterior de cabeza sobre cuello presentan mayor variabilidad en la emisión silábica del rendimiento diadocinético del habla (Sq r lineal = 0,128). Conclusión: se establece que la postura cefálica con presencia de rotación posterior de la cabeza sobre el cuello se asocia a la pérdida de inteligibilidad del habla en la muestra estudiada. ABSTRACT Purpose: the objective of this study was to establish an associative factor that connects the morphology of the craniocervical system with the articulatory speech intelligibility level in young subjects. Methods: a cross-sectional study which considered a sample of 42 university students from a universe of 140, both male and female, without morbid background ranging between 18 and 21 years of age. Evaluated aspects: a) articulatory intelligibility by the diadochokinetic periodic variation coefficient, b) traditional static postural parameters using the photogrammetric method, and c) cephalic postural pattern by lateral cephalometry (X-ray) Results: 36 subjects with adequate intelligibility and 6 with altered intelligibility where the anteroposterior cranio-cervical rotation variable showed significant differences (p = 0.009) between the group with normal intelligibility and the group with impaired intelligibility. The linear regression analysis demonstrated that subjects with posterior head-neck rotation exhibited more variability in the syllable emission of diadochokinetic speech performance (Sq r linear = 0.128). Conclusion: it is established that the cephalic position with subsequent posterior head-neck rotation is associated with the loss of speech intelligibility in the studied sample.

Work-related musculoskeletal disorders are a common problem among office workers. The purpose of this study is to evaluate the impact of a workplace exercise program on neck and shoulder pain and flexibility in office workers. The workstation assessment was performed using Rapid Office Strain Assessment. Workers were assessed for pain pre- and post-implementation of the workplace exercise program using the Nordic Questionnaire for Musculoskeletal Symptoms, and for flexibility. The program lasted 3 months and entailed twice weekly sessions. The sample consisted of an intervention group (n = 30) and a control group (n = 8). The results suggest improvements in pain reduction and increased flexibility. The workers had less musculoskeletal pain at the end of the evaluation. The increase in flexibility between the evaluations was significant in the intervention group, though there were slight improvements there too., Trastornos musculoesqueléticos relacionados con el trabajo son un problema común entre los trabajadores de oficina. El propósito de este estudio es evaluar el impacto de un programa de gimnasia laboral en la dolor de cuello y hombro, y la flexibilidad en los trabajadores de oficina. La evaluación del puesto de trabajo se realizó a través de Rapid Office Strain Assessment. Los trabajadores fueron evaluados para el dolor pre y post-ejecución del programa de gimnasia utilizando el Nordic Questionnaire for Musculoskeletal Symptoms, y por la flexibilidad. El programa tuvo una duración de 3 meses y supuso sesiones dos veces por semana. La muestra está formada por un grupo de intervención (n = 30) y un grupo control (n = 8). Los resultados sugieren mejoras en la reducción del dolor y aumento de la flexibilidad. Los trabajadores tuvieron menos dolor musculoesquelético al final de la evaluación. El aumento de flexibilidad entre dos puntos de tiempo de la evaluación fue significativo en el grupo de intervención, aunque hubo una ligera mejora allí también., This study received financial support from the Portuguese Foundation for Science and Technology, under project ID/CEC/00319/2013.

Objective: The aim of this study was to determine if a needle is able to reach the cervical multifidus during the application of dry needling or acupuncture. Methods: Dry needling and ultrasound imaging of cervical multifidi was conducted on 5 patients (age: 32 ± 5 years) with mechanical neck pain and on 2 fresh cadavers (age: 64 ± 1 years). Dry needling was done using a needle of 40 mm in length inserted perpendicular to the skin about 1 cmlateral to the spinous process at C3-C4. The needlewas advanced from a posterior to anterior direction into the cervical multifidus with a slight inferior-medial angle (approximately 10°) to reach the vertebra lamina. For the cadaveric study, the multifidus was isolated by carefully resecting the superficial posterior cervical muscles: trapezius, splenius, and semispinalis. For the ultrasonographic study, a convex transducer was placed transversely over C3-C4 after the insertion of the needle into the muscle. Results: The results of both the cadaveric and ultrasonic studies found that the needle does pierce the cervical multifidus muscle during insertion and that the tip of the needle rests properly against the vertebral laminae, thereby guarding the sensitive underlying spinal structures from damage. Conclusion: This anatomical and ultrasound imaging study supports that dry needling of the cervical multifidus could be conducted clinically. (J Manipulative Physiol Ther 2017;xx:0-6) pre-print 800 KB

La patologia del cuello y su abordaje quirurgico es una practica clinica habitual para el cirujano de cabeza y cuello. El planteamiento de la cirugia sera en base al diagnostico de sospecha, con las pruebas de imagen y citologia por puncion de la tumoracion cervical. En algunos casos el diagnostico definitivo solo nos lo dara el estudio anatomopatologico de la pieza quirurgica. Se presenta el caso de una tumoracion cervical, de torpida y rapida evolucion, en la cual el agente Trichinella spiralis, pudo tener un papel en la etiologia del cuadro.

A 65-year-old man presented with a history of type 2 diabetes, chronic obstructive pulmonary disease, and non-alcoholic fatty liver. He had had no injuries to, or operations on his neck, but had had right submandibular and retroauricular pain for years. Computed tomography with 3-dimensional reconstruction (Figs. 1 and 2) showed elongation of both styloid processes associated with pseudoarticulation of the hyoid bone on the right side. This confirmed the complete ossification of the stylohyoid ligament, but the patient did not want an operation to resolve it. Sin financiación 1.260 JCR (2017) Q3, 65/91 Dentistry, Oral Surgery & Medicine, 138/200 Surgery UEV

Se plantea como objetivo un estudio clínico morfológico de la deformación del borde dorsal del cuello en caballos de carruaje en Sevilla y Córdoba, Andalucía-España. Fueron estudiados un total de 110 caballos. Se practicó un examen clínico y morfológico considerando condición corporal peso y se midió el perímetro cervical. El estudio morfológico para considerar la deformación del borde dorsal del cuello tomando en cuenta la cresta de la nuca (puntuación del 1 al 5) evidencio: para la puntuación 0: 33.6%; puntuación 1: 51.8%; puntuación 2: 10%; puntuación: 4.5%, para la puntuación 4 y 5 ningún caballo se observó en estas categorías. El promedio del diámetro del cuello fue de 92.54cm, el promedio de la longitud del cuello fue de 92.46 cm y el peso fue de 3.92Kg. Los resultados estadísticos del grado de deformación del cuello con el peso fue de 0.465 y la correlación entre el grado de deformación con el peso fue de 0.652. El grado de correlación entre el perímetro cervical y la condición corporal fue de 0.634. En conclusión se observó la deformación del borde dorsal del cuello en caballos cruzados empleados para carruajes en Córdoba y Sevilla, España, con una prevalencia puntual de 66%. The aim of this study was to a clinical, morphological of deformation dorsal neck edge on in horse of carriage in Seville and Cordoba, Andalusia, Spain. We studied a total of 110 horses. Clinical examination was performed and morphological considering weight and body condition was measured cervical perimeter. Deformation of the dorsal edge of the neck in all cases studied was evident. Morphological study to consider the deformation of the dorsal edge of the neck taking into account the ridge of the neck (score of 1 to 5) evidenced: for score 0: 33.6%; score 1: 51.8%; Rankings 2: 10%; Rated: 4.5 % for score 4 and 5 no horse was observed in these categories. The average diameter of the neck was 92.54cm, the average neck length was 92.46 cm and the weight was 3.92kg. The statistical result of the degree of deformation of the neck with the weight was 0.465 and the correlation between the degrees of deformation with weight was 0.652. The degree of correlation between neck circumference and body condition was 0.634. In conclusion deformation dorsal edge of the collar in horses used for carriage crossed in Cordoba and Seville, Spain, was observed a prevalence of 66%.

Background: Andalgalornis steulleti from the upper Miocene-lower Pliocene (≈6 million years ago) of Argentina is a medium-sized patagornithine phorusrhacid. It was a member of the predominantly South American radiation of 'terror birds' (Phorusrhacidae) that were apex predators throughout much of the Cenozoic. A previous biomechanical study suggests that the skull would be prepared to make sudden movements in the sagittal plane to subdue prey. Methodology/Principal Findings: We analyze the flexion patterns of the neck of Andalgalornis based on the neck vertebrae morphology and biometrics. The transitional cervical vertebrae 5th and 9th clearly separate regions 1-2 and 2-3 respectively. Bifurcate neural spines are developed in the cervical vertebrae 7th to 12th suggesting the presence of a very intricate ligamentary system and of a very well developed epaxial musculature. The presence of the lig. elasticum interespinale is inferred. High neural spines of R3 suggest that this region concentrates the major stresses during downstrokes. Conclusions/Significance: The musculoskeletal system of Andalgalornis seems to be prepared (1) to support a particularly big head during normal stance, and (2) to help the neck (and the head) rising after the maximum ventroflexion during a strike. The study herein is the first interpretation of the potential performance of the neck of Andalgalornis in its entirety and we considered this an important starting point to understand and reconstruct the flexion pattern of other phorusrhacids from which the neck is unknown., Facultad de Ciencias Naturales y Museo

Se presenta el caso de una mujer en la edad media de la vida, hipertensa en tratamiento, con el antecedente de cirugía bariátrica, que desarrolla cuadro de masa cervical asintomática en la que, luego de descartar otras patologías por imágenes y evolución, se diagnosticó Angioedema cervical, el que tuvo regresión total, prácticamente espontánea, en los días siguientes.

Los quistes broncogénicos son malformaciones congénitas del árbol traqueobronquial que se ubican preferentemente en pulmones y mediastino, siendo excepcional su aparición en el cuello. Esta situación conlleva que ante una masa cervical de esta naturaleza se postulen diferentes diagnósticos clínicos de lesiones cervicales que son más corrientes, tales como quiste tiroideo, tirogloso, branquial y tímico, entre otros. La imagenología informa sobre el carácter quístico de la lesión pero no proporciona hallazgos específicos. Durante la intervención quirúrgica tampoco es posible establecer el diagnóstico, puesto que la masa simula los quistes cervicales congénitos más frecuentes. El diagnóstico definitivo se establece mediante la biopsia al constatar en la pared del quiste epitelio respiratorio. Comunicamos el caso de una mujer que presentó un quiste broncogénico de ubicación cervical y discutimos algunos aspectos de esta interesante condición

espanolCaso clinico: Se describe un caso documentado de sindrome de Horner como manifestacion de un traumatismo cervical. Un varon de 33 anos se presento con ptosis y miosis derecha despues de una lesion cervical incisa. Las imagenes de tomografia axial computerizada del cuello demostraron un hematoma a tension con deformidad y estenosis de la traquea. Discusion: Un traumatismo cervical puede interrumpir la via simpatica y cuando se realiza la exploracion el sindrome de Horner puede ser la manifestacion de un proceso potencialmente mortal. EnglishCase report: We present a case of Horner’s syndrome in a 33-year-old man who presented with ptosis and right pupil miosis after cervical trauma. Computed tomography revealed a tender haematoma in the neck, which was producing tracheal deformity and stenosis. Discussion: Cervical trauma may damage the sympathetic pathway and result in Horner’s syndrome. This may be a manifestation of a life-threatening condition.

El carcinoma basocelular es la tumoración cutánea maligna más frecuente. Junto con el carcinoma espinocelular su localización habitual es a nivel de cabeza y cuello y a diferencia de éste la tasa de metástasis regionales es mucho más baja. Presentamos el caso de una mujer de 85 años con un carcinoma basocelular a nivel del pabellón auricular derecho, que inicialmente se trató mediante extirpación y cierre. A los 2 años presentó recidiva local en la zona inferior del pabellón auricular y en la exploración física se apreció una tumoración dura a nivel submandibular derecho. Se realizó punción aspiración con aguja fina (PAAF) que fue positiva para metástasis de carcinoma basocelular. La Tomografía Axial Computerizada (TAC) mostraba una masa única en la región submandibular no adherida a la mandíbula. El tratamiento consistió en extirpación de la recidiva local y parotidectomía superficial más vaciamiento cervical funcional del lado derecho. La paciente se negó a realizar tratamiento con radioterapia complementaria. En la actualidad la paciente está viva y realiza revisiones periódicas.

ResumenAntecedentesEl quiste broncogénico es una malformación de la porción ventral del intestino primitivo, limitada por epitelio bronquial, que genera alteraciones en el desarrollo del árbol traqueo-bronquial. Pueden ser únicos o múltiples y generalmente están confinados a un pulmón o mediastino, rara vez a cuello y tejido celular subcutáneo.ObjetivoSe reporta el caso de una paciente de 9 años de edad, con cuadro de 4 años de evolución caracterizado por tumor de crecimiento lento en el hemicuello izquierdo, asintomática. La radiografía de tórax, el ultrasonido de cuello y la tomografía de cuello y tórax permitieron descartar alguna otra lesión; se le realizó resección completa y el estudio histopatológico confirmo el diagnóstico de quiste broncogénico.ConclusiónLa sintomatología de un quiste broncogénico se debe a la compresión de estructuras vasculares, digestivas o aéreas, así como de la infección del quiste, tamaño y lugar del mismo; el tratamiento de elección es la resección quirúrgica aun siendo asintomático.AbstractBackgroundBronchogenic cyst is a malformation of the ventral portion of the intestine, which is limited by bronchial epithelium and produces alterations in the development of the tracheobronchial tree. They may be single or multiple, and are usually confined to one lung or to the mediastinum, rarely to the neck, which is a subcutaneous tissue.ObjectiveThe case of a 9 year old girl is reported, who presented with a clinical picture characterized by a slow-growing, asymptomatic tumour on the left side of the neck of 4 years onset. Chest X-ray, neck ultrasound and computed tomography of the neck and chest ruled out any other injury. A complete resection was performed, and the histopathological study confirmed the diagnosis of bronchogenic cyst.ConclusionThe symptomatology of a bronchogenic cyst is due to the compression of the vascular, digestive or air structures, as well as its size, infection and location. The treatment of choice is a surgical resection, even when asymptomatic.

Background Bronchogenic cyst is a malformation of the ventral portion of the intestine, which is limited by bronchial epithelium and produces alterations in the development of the tracheobronchial tree. They may be single or multiple, and are usually confined to one lung or to the mediastinum, rarely to the neck, which is a subcutaneous tissue. Objective The case of a 9 year old girl is reported, who presented with a clinical picture characterised by a slow-growing, asymptomatic tumour on the left side of the neck of 4 years onset. Chest X-ray, neck ultrasound and computed tomography of the neck and chest ruled out any other injury. A complete resection was performed, and the histopathological study confirmed the diagnosis of bronchogenic cyst. Conclusion The symptomatology of a bronchogenic cyst is due to the compression of the vascular, digestive or air structures, as well as its size, infection and location. The treatment of choice is a surgical resection, even when asymptomatic.