Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.

INTRODUCTION: Joubert syndrome is a rare disease of genetic origin with autosomal recessive inheritance and extreme genetic heterogeneity with more than 40 causative genes. Joubert syndrome 7 is caused by mutations in the RPGRIP1L gene. PATIENT CONCERNS: Our report describes a pediatric patient with clinical features compatible with JS type 7 such as hypotonia, developmental delay and aplasia of the cerebellar vermis. DIAGNOSIS: The clinical features and the MRI of the head and neck which showed alterations at the level of the posterior fossa, with absence of the vermis and horizontal disposition of the cerebellar peduncles, were compatible with Joubert syndrome. Whole exome sequencing detected the variants RPGRIP1L (NM_015272.2) c.697A > T (p. Lys233Ter) and RPGRIP1L (NM_015272.2) c.3545 del (p.Pro1182LeufsTer25). INTERVENTIONS: Resection was performed to correct the polydactyly. At age 2 years umbilical hernia, adenoid surgery and ventilatory tubes surgery were performed. Renal biopsy confirmed interstitial fibrosis and focally accentuated mild tubular atrophy with focal tubular hypertrophy, compatible with the clinical suspicion of Joubert syndrome. Congenital hip dislocation surgery was performed. The patient underwent surgery for correction of concomitant divergent strabismus and continued with glasses for astigmatism and hyperopia. OUTCOMES: Sanger sequencing confirmed the patient´s results and the father was found to be a carrier of RPGRIP1L (NM_015272.2) c.697A > T (p. Lys233Ter) and the mother and maternal grandmother as carriers of RPGRIP1L (NM_015272.2) c.3545del (p.Pro1182LeufsTer25). RPGRIP1L:c.3545del novel variant is a deletion which changes the reading frame, altering the RPGR1_C terminal domain and giving rise to an incomplete protein whose functions will be altered. CONCLUSION: This is the first genetically confirmed case of JS in Colombia, the first carrier of biallelic RPGRIP1L gene mutations with hip dislocation and incomplete glottic closure and the first report of the novel c.3545del likely pathogenic variant causing JS.

Whipple's Disease: A Systematic Review of the Literature

Introduction: Whipple's disease is a chronic systemic disease with a predilection for the digestive system, especially the small intestine. It was first described in 1907 by George H. Whipple, who named it intestinal lipodystrophy. It is caused by a gram-positive bacterium belonging to the Actinomycetaceae family called Tropheryma whipplei. Objective: To characterize patients with Whipple's disease. Materials and methods: A systematic literature review was carried out using the DeCS terms enfermedad de Whipple (Whipple's disease) or (Tropheryma whipplei) in the Pubmed/Medline, Scopus, Scielo, Science Direct, Embase, Cochrane Library, BIREME, Proquest, and Redalyc databases; 123 articles were analyzed. Results: 123 published articles corresponding to case reports and series were examined, noting a higher prevalence in males (70.6%). The most frequent manifestations were joint symptoms (61%), followed by weight loss (47.1%) and diarrhea (43.4%). The most used diagnostic method was polymerase chain reaction (PCR) (63.2%), followed by biopsy (50.7%) and pathological examination with PAS (periodic acid Schiff) granules (47.8%). The management most used was antibiotic therapy with a predominance of trimethoprim/sulfamethoxazole and ceftriaxone. Conclusions: Whipple's disease has a low prevalence, occurs more frequently in white people, mainly affects the elderly, has a predilection for the male sex, and is characterized as a chronic systemic disease with a predilection for the digestive system, especially the small intestine.

Introducción: la enfermedad de Whipple es una enfermedad crónica sistémica con predilección por el aparato digestivo, especialmente el intestino delgado. Fue descrita por vez primera en 1907 por George H. Whipple, quien la denominó lipodistrofia intestinal. Es causada por una bacteria grampositiva perteneciente a la familia de los Actinomycetaceae denominada Tropheryma whipplei. Objetivo: caracterizar a los pacientes con enfermedad de Whipple. Materiales y métodos: se realizó una revisión sistemática de la literatura, de los términos DeCS enfermedad de Whipple (whipple Disease) o (Tropheryma whipplei) en las bases de datos Pubmed/Medline, Scopus, Scielo y Science Direct, Embase, Cochrane Library, BIREME, Proquest y Redalyc; se analizaron 123 artículos. Resultados: se analizaron 123 artículos publicados que correspondían a reportes y series de casos en los cuales se evidenció una mayor prevalencia en varones (70,6%). Las manifestaciones más frecuentes fueron los síntomas articulares (61%), seguidos de pérdida de peso (47,1%) y diarrea (43,4%). El método diagnóstico más usado fue la reacción en cadena de la polimerasa (PCR) (63,2%), seguido por la biopsia (50,7%) y, por último, examen anatomopatológico con gránulos PAS (ácido peryódico de Schiff) (47,8%). El manejo más empleado fue la antibioticoterapia con predominio de trimetoprima/sulfametoxazol y ceftriaxona. Conclusiones: la enfermedad de Whipple tiene una baja prevalencia, se presenta con mayor frecuencia en personas de raza blanca, afecta principalmente a los adultos mayores, tiene predilección por el sexo masculino y se caracteriza por ser una enfermedad crónica sistémica con predilección por el aparato digestivo, especialmente el intestino delgado.

Síndrome hepatorrenal: revisión de la literatura

Contexto: el síndrome hepatorrenal es una disfunción renal que ocurre en pacientes con enfermedad hepática crónica como cirrosis hepática o enfermedad hepática aguda, caracterizada por la activación de mecanismos reguladores que conducen a la disminución de la tasa de filtrado glomerular. Clínicamente, el síndrome hepatorrenal se divide en dos tipos: el tipo 1 se caracteriza por una pérdida rápida y progresiva de la función renal, mientras que el tipo 2 se caracteriza por ser de progresión lenta y de mejor pronóstico. Objetivo: analizar la historia natural de la enfermedad que presentan los pacientes que desarrollan síndrome hepatorrenal. Metodología: se realizó una revisión de la literatura científica de manuscritos publicados sobre síndrome hepatorrenal, para evaluar la historia natural de esta patología. Resultados: no existen hallazgos clínicos específicos, sin embargo, sus manifestaciones clínicas reflejan la enfermedad hepática avanzada subyacente, la insuficiencia renal y las anomalías circulatorias presentes. Conclusiones: la opción terapéutica más adecuada es el trasplante hepático, pero no todos los pacientes pueden recibirlo, mientras se accede a dicho manejo una opción es el tratamiento medicamentoso con vasoconstrictores y albúmina.

Background: Hepatorenal syndrome is a renal dysfunction that occurs in patients with chronic liver disease such as liver cirrhosis or acute liver disease, characterized by the activation of regulatory mechanisms that lead to a decrease in the glomerular filtration rate. Clinically, hepatorenal syndrome is divided into two types, type 1 and type 2. Type 1 is characterized by a rapid and progressive loss of kidney function while type 2 is characterized by slow progression and a better prognosis. Purpose: To analyze the natural history of the disease presented by patients who develop hepatorenal syndrome. Methodology: A review of the scientific literature of published manuscripts on hepatorenal syndrome was carried out to evaluate the natural history of this pathology. Results: There are no specific clinical findings, however, its clinical manifestations reflect the underlying advanced liver disease, kidney failure, and circulatory abnormalities present. Conclusions: The most appropriate therapeutic option is liver transplantation, but not all patients can receive it, while accessing said management an option is drug treatment with vasoconstrictors and albumin.

The reintroduction of DENV-2 in 2011 in Panama and subsequent outbreak characteristic.

The circulation of the South-east Asian/American (AS/AM) dengue 2 virus (DENV-2) genotype in the Americas has been associated with a high rate of severe disease. From 1993, the year DENV was reintroduced in Panama, until 2011 there were 29 dengue-associated deaths, 17 of which occurred in 2011, the most severe outbreak with a case fatality rate (CFR) of 44% (17 deaths out of 38 severe dengue cases). During this outbreak DENV-2 was reintroduced into the country, whereas over the prior five years DENV-1 and -3 were predominant. Herein, we describe the 2011 Panama outbreak and genetically characterize the Panamanian DENV-2 strains, which were associated with severe dengue disease in Panama. Our results suggest that the DENV-2 isolates from this outbreak belonged to the AS/AM genotype sub-clade 2BI and were genetically close to viruses described in the outbreaks in Nicaragua, Honduras, Guatemala and Mexico from 2006-2011. Sub-clade 2BI has previously been associated with severe disease in Nicaragua during outbreaks from 2005-2007.

Fracture resistance of endodontically treated teeth restored with glass fiber reinforced posts and cast gold post and cores cemented with three cements.

STATEMENT OF PROBLEM: Dental fractures can occur in endodontically treated teeth restored with glass fiber reinforced posts and cast gold posts. PURPOSE: The objective of this study was to record the fracture strength of endodontically treated teeth restored with glass fiber reinforced or cast gold post and cores cemented with 3 cements. MATERIAL AND METHODS: Forty-two single-rooted premolars with standardized weakened roots were endodontically treated and allocated to 6 experimental groups (n=7) defined by the 2 factors investigated: post system and cement. Three groups were restored with glass fiber posts and resin-modified glass ionomer cement, dual-polymerizing resin cement, or chemically active autopolymerizing resin cement. The other 3 groups were restored with cast gold post and cores and the same 3 cements. The cores of the glass fiber post groups were fabricated with composite resin core material. Metal crowns were cemented on the cores in the 6 groups. The entire system was subjected to continuous compression in a universal testing machine, and fracture limit and location (cervical third, middle third, or apical third) were noted. Two-way ANOVA and the Scheffé test were used to analyze the data and compare the groups (α=.05). RESULTS: Two-way ANOVA showed significant differences in the post type (P<.001) and the cements (P<.001). The interaction between them (P<.001) was statistically significant in the fracture resistance of the endodontically treated teeth. The greatest interaction between post and cement was the glass fiber post with resin-modified glass ionomer cement, followed by the cast gold post and core with resin-modified glass ionomer cement. CONCLUSIONS: The use of a glass fiber reinforced post and resin-modified glass ionomer cement increased the fracture resistance of endodontically treated teeth.