Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes.

Congenital cataract (CC) is a significant cause of childhood blindness worldwide. CC is a genetically heterogeneous disease because mutations in over 40 genes have been demonstrated to cause the disorder and up to 40% of cases arise from single-gene mutations. Hence, next generation sequencing (NGS) of deoxyribonucleic acid is a suitable approach for CC molecular diagnosis. In this study, we used commercially available inherited disease NGS panels including 50 CC genes for the genetic diagnosis of 11 probands with hereditary CC. Causal variants were recognized in six families. A novel CRYGC variant, p.(Phe6Ser), was identified in two apparently unrelated families. Two additional novel variants in the crystallin genes CRYBB2 (p.[Gly149Asp]) and CRYGA (p.[Arg48Cys]) were also identified. One family carried the novel p.[Gly8_Leu11del] variant in GJA8, while another family exhibited the previously reported c.2826-9G>A pathogenic change in EPHA2. Our results illustrate the utility of NGS for diagnosing CC in our population, and our results contribute to expand the mutational spectrum with four novel pathogenic variants in known CC genes.

Reconstrucción auricular traumática con colgajo retroauricular. Una alternativa vigente y reproducible para los médicos residentes en formación / Traumatic auricular reconstruction with a retroauricular flap. A current and reproducible alternative for resident doctors in training

Resumen Introducción La reconstrucción auricular traumática es un reto para el cirujano plástico. Su objetivo es reproducir y recrear la forma y topografía de la región auricular, haciendo que los estigmas propios de la reconstrucción sean mínimos. Caso clínico Se presenta el caso de un paciente varón de 5 años de edad, con lesión por mordedura de perro en la oreja derecha, y lesión corto-contusa en pabellón auricular con pérdida de cobertura cutánea, pérdida parcial de cartílago auricular y exposición cartilaginosa a nivel de hélix y porción retroauricular. Se realizó reconstrucción auricular mediante reparación auricular y colgajo retroauricular. En un segundo tiempo quirúrgico, se realizó sección de la base del colgajo, y se logró un adecuado contorno auricular, así como cobertura cutánea definitiva Conclusiones Las lesiones auriculares, por su situación anatómica, son frecuentes en la práctica profesional de un cirujano plástico y reconstructivo. Existen múltiples técnicas quirúrgicas para la reconstrucción de defectos auriculares, sin embargo, el colgajo retroauricular ofrece una técnica sencilla y versátil.

Abstract Introduction Traumatic auricular reconstruction is a challenge for the plastic surgeon. The purpose of this reconstruction is to reproduce and recreate the shape and topography of the auricular region, diminishing the typical stigmas of a reconstruction. Clinical case The case of a 5-year-old male patient with right bite of a dog in a right ear presenting a short-contusional lesion in the auricular hall with loss of cutaneous cover, partial loss of atrial cartilage and cartilage exposure At the level of helix and retroauricular portion. Auricular reconstruction is performed by atrial repair and retroauricular flap. In a second surgical time, a section of the base of the flap is performed, achieving a suitable atrial contour and definitive skin coverage. Conclusions Auricular injuries, due to their anatomical situation, are frequent in the professional practice of a plastic and reconstructive surgeon. There are multiple surgical techniques for the reconstruction of atrial defects, however, the retroauricular flap offers a simple and versatile technique.

Management of traumatic cataract in adults at a reference center in Mexico City.

The purpose of the study was to determine the clinical presentation, mode of injury, surgical, and postoperative outcomes in adult patients with traumatic cataract. This is a clinical, observational, and retrospective study with review of records of patients in the period 2010-2012. Eighty patients were included, of whom 67 (83.75 %) were male. The mean age at presentation was 46 years (range 18-82 years). Sixty-four patients (80 %) had a closed-globe blunt ocular trauma and 16 (20 %) had an open-globe penetrating trauma. Seventy-seven (96.25 %) patients underwent phacoemulsification; 13.7 % (n = 11) required placement of capsular tension rings and 22.5 % (n = 18) automated anterior vitrectomy. In 53 % of the cases the intraocular lens (IOL) was placed in the capsular bag. Forty-seven patients (58.75 %) achieved a best-corrected visual acuity of 20/40 or better. In 57 (71.25 %) the final refraction was obtained, with a mean spherical equivalent of -0.56D (range -3.50D to +2.00 D). The improvement in visual acuity was significantly higher when the IOL was placed in the capsular bag compared to when it was placed in the sulcus (average difference of 0.667, p = 0.001). The most common mechanism of trauma is closed globe. Phacoemulsification was the procedure most common performed, with the IOL placed most commonly in the capsular bag. The final best-corrected visual acuity in most patients was 20/40 or better. Placing the IOL in the capsular bag represented an improvement in visual acuity compared to placement in the sulcus.

[Epidemiological study of traumatic hand injuries in Toluca, State of Mexico]. / Estudio epidemiológico de las lesiones traumáticas de mano en un Centro Médico de Toluca, Estado de México.

BACKGROUND: Traumatic hand injuries are among the principal types of injuries. These injuries refer to any acute damage caused to the hand by an external agent. The aim of this study was to determine the characteristics of these injuries in our unit. OBJECTIVE: To determine the characteristics of hand injuries at the Plastic and Reconstructive Surgery of the Centro Médico "Licenciado Adolfo López Mateos" (CMLALM) and compare the results with those reported in other countriesMethods: Retrospective study of patients diagnosed with traumatic hand injury treated at the Plastic and Reconstructive Surgery service at CMLALM during the period from September 6, 2010 to September 5, 2011. RESULTS: One hundred five cases were treated. There was a predominance of males (82.9%). The most affected group was 20-29 years old (44.8%). The right hand was the most injured (46.7%). The most common mechanism of injury was due to abrasion (41%) followed by sharp objects (32.4%). The dominant hand was the most damaged (50.47%). The most common injuries were open type (88.6%) and single type (84.8%). CONCLUSIONS: Hand injuries were more common in men and were occupationally related; therefore, occupational safety programs must be improved. The characteristics of traumatic hand injuries in our unit were very similar to those seen worldwide.

Antecedentes: las lesiones traumáticas de la mano se encuentran entre los tipos más frecuentes de lesiones y se refieren al daño agudo ocasionado a la mano por un agente externo. Objetivo: determinar las características de las lesiones de mano atendidas en el Centro Médico Lic. Adolfo López Mateos, ISEM y compararlas con lo reportado en otros países. Material y métodos: estudio retrospectivo de pacientes atendidos en el servicio de Cirugía Plástica y Reconstructiva del Centro Médico Licenciado Adolfo López Mateos, entre el 6 de septiembre de 2010 y el 5 de septiembre de 2011, con diagnóstico de lesión traumática de mano. Resultados: se atendieron 105 casos. Predominó el sexo masculino (82.9%). El límite de edad más afectado fue el de 20 a 29 años (44.8%). La mano más lesionada fue la derecha (46.7%). El mecanismo de lesión más común fue por esmeril (41%), seguido por objeto cortante (32.4%). La mano dominante fue la más lesionada (50.47%). Las lesiones más comunes fueron de tipo abierto (88.6%), y simple (84.8%). Conclusiones: las lesiones de mano fueron más comunes en hombres, en sitios de actividad laboral, por lo que deben mejorarse los programas de seguridad en el trabajo. Las características de las lesiones traumáticas de mano en nuestra unidad fueron muy semejantes a las observadas en el resto del mundo.

Pancreatic hemolymphangioma.

CONTEXT: Hemolymphangioma of pancreas is a tumor has its origins on vascular and lymphatic vessels malformation. At this time, only eight cases have been reported (PubMed). CASE REPORT: A 52-year-old woman with history of abdominal pain and early satiety was admitted to our external consultation. Laboratory data were normal. CT initially showed a high vascularized solid tumor, apparently arising from the right hepatic lobe, and it was considered to be a hemangioma. Two sessions of CT guided embolizations were performed. Control CT scan revealed a reduction in tumor´s size and location confined to pancreatic head. With this diagnosis studies and suspicion of neoplastic tumor, it was performed a pylorus preserving pancreatoduodenectomy. Pathology report was to be a pancreatic head hemolymphangioma. CONCLUSION: Diagnosis and management of cystic pancreatic tumors can be challenging. Cystectomy or even surgical procedures as pancreatoduodenectomy should be performed when is possible. We report a case of pancreatic hemolymphangioma, a benign cystic tumor with a rare incidence.

Gunshot wound to the pregnant uterus: case report.

Crime and violence have become a public health problem. Pregnant women have not been the exception and gunshot injuries occupy an important place as a cause of trauma. An important fact is that pregnant women, who suffer trauma, are special patients because pregnancy causes physiological and anatomical changes. Management of these patients should be multidisciplinary, by the general surgeon, the obstetrician and the neonatologist. However, even trauma referral centers could neither have the staff nor the ideal training for these specific cases. In this context we present the following case.

Gunshot wound to the pregnant uterus: case report / Ferimento por tiro em útero gravido: relato de caso

Crime and violence have become a public health problem. Pregnant women have not been the exception and gunshot injuries occupy an important place as a cause of trauma. An important fact is that pregnant women, who suffer trauma, are special patients because pregnancy causes physiological and anatomical changes. Management of these patients should be multidisciplinary, by the general surgeon, the obstetrician and the neonatologist. However, even trauma referral centers could neither have the staff nor the ideal training for these specific cases. In this context we present the following case.

Crime e violência tornaram-se um problema de Saúde Pública. As mulheres grávidas não constituem exceção e ferimentos por arma de fogo ocupam um lugar importante como causa de trauma. Um fato importante é que as mulheres grávidas que sofrem um trauma são pacientes especiais, porque a gravidez provoca modificações fisiológicas e anatômicas importantes. O manejo dessas pacientes deve ser multidisciplinar, realizado pelo cirurgião geral, pelo obstetra e pelo neonatologista. No entanto, até mesmo centros de referência de trauma poderiam nem ter o pessoal nem a formação ideal para esses casos específicos. Neste contexto, apresentamos o seguinte caso.

Four years old, one eye, pars planitis and cataract: surgical challenges give challenging surprises.

Pars planitis (PP) is an intermediate form of uveitis, which, if left untreated, can result in vision loss. Although phacoemulsification with IOL implantation in eyes with PP often results in improved vision, it represents a surgical challenge due to inflammatory sequelae and the possibility of postoperative complications. This case report describes a 4-year-old male who was admitted for poor visual acuity and severe photophobia. The patient previously received vitreo-retinal surgery on his right eye due to an 'unknown disease'. Ophthalmological evaluation revealed NLP, pupillary seclusion and band keratopathy in the right eye; echographic scans revealed funnel retinal detachment. The left eye had a visual acuity of CF at 1 foot, minimal band keratopathy, posterior synechiae and the following echographic findings: abundant vitreous opacities and increased chorioretinal thickness (1.6 mm). Complete medical and laboratory assessments found no infectious pathologies. The patient was diagnosed with PP. Anti-inflammatory and immunological therapy was given in order to control inflammation. Within four months, the inflammation was controlled. Slow motion phacoemulsification with iris-retractors was performed. During the surgery, an unexpected challenge was identified: an opaque-vascular retrolental membrane. The membrane was cauterized with diathermy. Primary posterior capsulotomy and membranectomy were performed, followed by a limited anterior vitrectomy. An in-the-bag IOL was implanted successfully, with no postoperative complications, and visual acuity improved to 20/200.

Síndrome de contracción capsular posterior a cirugía de facoemulsificación. Reporte de un caso / Posterior capsular contraction syndrome after facoemulsification surgery. Case report

Objetivo: Reportar un caso con el síndrome de contracción capsular. Métodos: Descripción de la exploración oftalmógica y de los diferentes procedimientos quirúrgicos realizados. Resultados: Caso clínico de un paciente masculino de 53 años de edad, postoperado de catarata congénita con técnica de facoemulsificación con implante de lente intraocular de silicona, que a los 2 años de operado desarrolló un síndrome de contracción capsular, bajando su capacidad visual de 20/50 a cuenta dedos a 5 pies, requiriendo una nueva intervención quirúrgica consistente en capsulotomía anterior quirúrgica, bajo anestesia local, y posteriormente una capsulotomía posterior con láser de Nd: Yag, recuperando una capacidad visual de 20/80. Conclusiones: Se recomienda no realizar capsulorrexis pequeña; ésta debe ser del tamaño del óptico del lente intraocular a utilizarse, sobre todo en aquellos pacientes de alto riesgo en el desarrollo de esta patología.

Atención genética perinatal primaria para la prevención de los defectos del nacimiento / Attention of primary perinatal genetics for the prevention of the birth defects

Indicar la importancia del asesoramiento genético para la prevención de los defectos del nacimiento y una reproducción sana, utilizando una población blanco altamente motivada, tal como la madre de alto riesgo para defectos del nacimiento. Selección de madres de alto riesgo en la consulta prenatal, la consulta de niños sanos, el servicio de ultrasonido y el registro de malformados. Hospital Chiquinquirá de Maracaibo y consultas públicas y privadas de la región. En once años, 576 pacientes, se atendieron en la consulta de genética. La ultrasonografía realizada por el genetista, demostró ser mas eficiente (38,23 por ciento) que la realizada en el servicio de ultrasonido (11,1 por ciento),(p>0,001; prueba de Z de una cola). La atención prenatal a la madre es incompleta sin el asesoramiento genético ya que a través del mismo, es posible la selección de un 10 por ciento a un 50 por ciento de embarazos de alto riesgo para defectos fetales cuya prevención de incidencia y recurrencia es posible, con beneficios económicos cuantificables para la nación

Heterogeneidad clínica del síndrome autista: un estudio en sesenta familias / Clinical heterogenity of the autistic syndrome: a study on sixty families

Sesenta familias, detectadas a través de un sólo probando, han ayudado a definir mejor el autismo infantil como un grupo nosológico heterogéneo. Cuarenta y cuatro probandos presentaron una característica displasia facio-auricular. Veinticuatro de ellos tenían acidemia láctico-pirúvica signos químicos de acidosis metabólica, es decir incremento del hiato aniótico por encima de 18 mEq/lt, o bicarbonato sérico por debajo de 21 mEq/lt. En 17 pacientes los aminoácidos estaban significativamente disminuídos (p<0.05) por debajo del valor de referencia en controles apareados; la taurina, los ácidos glutámico y aspártico estaban significativamente elevados (p<0.05; prueba "t" de Student). El análisis de segregación para herencia recesiva, en treinta y cuatro de estas familias, las cuales ligaban a través de por lo menos un apellido ancestral, sugiere herencia recesiva (p=0.20) en este grupo. Tres de ocho probandos que recibieron megadosis de piridoxina, subjetivamente ganaron habilidades de lenguaje, afectividad y respuesta a terapia conductual. Cinco pacientes tenían síndromes clínicamente definidos: dos varones con el síndrome de Martin-Bell, una niña afectada con el síndrome de Rett, una con fenilcetonuria y una con aciduria dicarboxilica

Pancreatitis hereditaria: reporte de una familia / Hereditary pancreatitis: report of a family

La pancreatitis crónica hereditaria (PCH) constituye una condición clínica extremadamente rara. A la fecha se han reportado 40 familias en la literatura médica mundial y no encontramos reportes en la literatura médica venezolana. Tipicamente existe historia de dolor abdominal de etiología no determinada o cuadros de pancreatitis a repetición en uno o más individuos de dos o más generaciones. La historia es negativa para alcohol medicamentos, colelitiasis, hiperlipidemia, áscaris, trauma o virus. Los autores describen una familia afectada: la hermana mayor de 24 años, su hijo de 6 años, el hermano de 18 años y un sobrino de ambos de 11 años. Clínicamente no se detectó insuficiencia pancreática exo o endocrina. La paratohormona, lipidograma y calcio sérico fueron normales. El fósforo sérico aparece ligeramente disminuído. Los valores de sodio y cloro en sudor resultaron normales. Las pruebas metabólicas de orina demostraron excreción aumentada de cistina y lisina. El diagnóstico de pancreatitis crónica fue realizado a través de colangiopancreatografía retrógrada endoscópica (CPRE). La pancreatoyeyunoanastomosis (PYA) fue realizada en uno de los pacientes y actualmente esta asintomático. Creemos que la CPRE está indicada en pacientes a riesgo de PCH