Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.

Background: Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities. MBS has been attributed to both environmental and genetic factors as potential causes. Until now only two genes, PLXND1 and REV3L have been identified to cause MBS. Results: We present a 9-year-old male clinically diagnosed with MBS, presenting facial palsy, altered ocular mobility, microglossia, dental anomalies and congenital torticollis. Radiologically, he lacks both abducens nerves and shows altered symmetry of both facial and vestibulocochlear nerves. Whole-exome sequence identified a de novo missense variant c.643G>A; p.Gly215Arg in CHN1, encoding the α2-chimaerin protein. The p.Gly215Arg variant is located in the C1 domain of CHN1 where other pathogenic gain of function variants have been reported. Bioinformatic analysis and molecular structural modelling predict a deleterious effect of the missense variant on the protein function. Conclusion: Our findings support that pathogenic variants in the CHN1 gene may be responsible for different cranial congenital dysinnervation syndromes, including Moebius and Duane retraction syndromes. We propose to include CHN1 in the genetic diagnoses of MBS.

Updated reference values in pelvic ultrasonography for a Spanish population of healthy girls between 6 and 12 years old.

BACKGROUND: Pelvic ultrasonography (PUS) of the uterus and ovaries allows the diagnosis of changes in sexual development. However, the reference values used in Spain originate from old studies conducted in other countries. OBJECTIVE: To determine reference uterine and ovarian measurements by PUS and according to pubertal status and bone age in a Spanish population of healthy girls aged between 6 and 12 years. MATERIALS AND METHODS: Descriptive cross-sectional study performed on 221 healthy girls from 2017 to 2019. Ovarian and uterine measurements were described and associated with chronological age, bone age, and Tanner stage. ROC curves were used to assess the predictive value of tests for Tanner stage II. RESULTS: We described reference values for all PUS uterine and ovarian measurements assessed. Subjects in Tanner II (thelarche) had a mean age of 9.7 years (SD = 1.1) and mean BMI of 19.2 kg/m2. Fundal-cervical ratio changed from 1:1 to 2:1 at 12 years of chronological age (62.5% with 1:1 ratio; p < 0.0001) and 13 years of bone age (2:1 in 85.71%, p < 0.0001). Mean uterine length for Tanner II was 4.065 cm (SD = 0.736); mean ovarian volume was 2.466 cm3 (SD = 1.719). Bone age, ovarian volume, and uterine length were good predictors of Tanner stage II. CONCLUSION: This is the first study providing reference uterine and ovarian PUS values in a Spanish population of healthy girls aged 6 to 12 years. Use of updated data characteristic of a specific population increases the diagnostic accuracy.

Contrast-enhanced voiding urosonography, part 1: vesicoureteral reflux evaluation.

Contrast-enhanced voiding urosonography (ceVUS) is a well-established, sensitive and safe ultrasound (US) modality for detecting and grading vesicoureteral reflux (VUR) and urethral imaging in children. Nearly three decades of remarkable advances in US technology and US contrast agents have refined ceVUS's diagnostic potential. The recent approval of Lumason/SonoVue in the United States, Europe and China for pediatric intravesical applications marked the beginning of a new era for this type of contrast US imaging. Consequently, the use of ceVUS in children has expanded to multiple places around the globe. In the first part of this review article, we describe the current experience in the use of ceVUS for VUR evaluation, with an emphasis on historical background, examination technique, image interpretation and diagnostic accuracy. In the second part, we will present the role of ceVUS for urethral imaging in children.

[Essential mixed cryoglobulinemia type II: case report.] / Crioglobulinemia mixta esencial tipo II: presentación de un caso.

The cryoglobulinemic syndrome is produced by precipitating immunoglobulins at low temperatures. Its production is associated with several causes, such as lymphoproliferative disorders, chronic infections and autoimmune disorders. However, the etiology is unknow. There are three types of cryoglobulins. Type II and III are the mixed. Type III produce a systemic vasculitis with diverse clinical manifestations. Palpable purpura is the most common, accompanied by arthralgia, neuropathy and type I membranoproliferative glomerulonephritis. We present a case of a 71 years old male patient with renal failure, nephritic syndrome, arterial hypertension and palpable purpuric skin lesions in members, thorax and abdomen. During hospitalization essential mixed cryoglobulinemia associated with cutaneous leukocytoclastic vasculitis and type I membranoproliferative glomerulonephritis was diagnosed. Complementary methods, treatment instituted and the patient's clinical course are described.

El síndrome crioglobulinémico es producido por inmunoglobulinas que precipitan reversiblemente a bajas temperaturas, llamadas crioglobulinas. Su producción se asocia a varias causas, como desórdenes linfoproliferativos, infecciones crónicas y trastornos autoinmunitarios. No obstante, en muchos casos la etiología no logra determinarse. Existen tres tipos, siendo las de tipo II y III las que forman parte de las denominadas crioglobulinemias mixtas. Estas últimas producen un cuadro de vasculitis sistémica con manifestaciones clínicas diversas. La púrpura palpable es la más frecuente, acompañada en forma variable por artralgias, neuropatía y afección renal en forma de glomerulonefritis membranoproliferativa de tipo I. Presentamos el caso clínico de un paciente de sexo masculino de 71 años de edad con insuficiencia renal, síndrome nefrítico, hipertensión arterial y lesiones cutáneas purpúricas palpables ambos miembros, tórax y abdomen. Durante la internación se diagnostica crioglobulinemia mixta esencial asociada a vasculitis leucocitoclástica cutánea y glomerulonefritis membranoproliferativa tipo I. Describimos los métodos complementarios utilizados para llegar al diagnóstico, el tratamiento instituido y la evolución clínica del paciente.

Cuerpos (in)visibles: historias de interseccionalidad en las personas adultas mayores costarricenses / (In)visible bodies: stories of interseccionality among costarrican elderly

El siguiente artículo objetiva analizar la articulación entre el “ser/poseer” un cuerpo adulto mayor vinculado a las diversas manifestaciones de la violencia, estigma y vulnerabilidad en la sociedad costarricense contemporánea. Resultados: La violencia contra las personas adultas mayores constituye un fenómeno invisibilizado y naturalizado históricamente. El análisis de la interacción entre la violencia directa, cultural y estructural permite comprender su actuar sobre la población adulta mayor. Con la misma veracidad y trascendencia histórica se erigen estigmas y estereotipos sobre las personas adultas mayores costarricenses. Resultando en una incomprensión social tácita y en la cristalización de ideas discriminatorias que repercuten en su diario vivir. De este modo, estigma social y violencia se entrelazan bajo una serie de artimañas sociales que subyuga a las personas adultas mayores a la vulnerabilización sostenida. Conclusiones: Para alcanzar una deconstrucción del concepto culturalmente instaurado de vejez, es necesario visualizar estos procesos de violencia, estigmatización y vulnerabilización. Con este fi n, los cuerpos envejecidos deben ser retirados de la pauta analítica individual y colocados en un ámbito socio-colectivo más amplio de transformación político y social.