Comparisons in long-term clinical outcomes among patients with upper or lower extremity lymphedema treated with diverse vascularized lymph node transfer.

BACKGROUND: Vascularized lymph node transfer (VLNT) is an emerging surgical treatment for lymphedema. However, literature-comparing outcomes of upper limb lymphedema (ULL) and lower limb lymphedema (LLL) is limited. Hence, the aim of this study is to compare the long-term clinical outcomes on ULL versus LLL in patients treated with VLNT. METHODS: A retrospective study retrieving data from patients with International Society of Lymphology (ISL) stages II-III who underwent different VLNTs from July 2010 to July 2016 in our institution was performed. Demographics preoperatively, and clinical data (limb circumference, infectious episodes, lymphoscintigraphic studies) preoperatively and postoperatively were recorded. Clinical outcomes by extremity were also analyzed. RESULTS: A total of 83 patients with lymphedema (ULL: n = 30, LLL: n = 53) were included. Mean follow-up time was 32.8 months (range 24-49 months). Mean circumference reduction was higher in patients with ULL compared to with LLL (28.6 ± 8.6 vs. 22.3 ± 10.1, p < .001), and for patients with secondary lymphedema (24.8 ± 9.6, p < .001) than for patients with primary lymphedema (18.9 ± 14, p > .05). Infectious episodes per year preoperative and postoperative showed that LLL patients had higher reduction on infection rate compared with ULL patients (2.4 ± 1.1 vs. 1.9 ± 1.2, p < .001). CONCLUSION: VLNT is a promising surgical treatment option for patients with lymphedema. This study suggests that VLNT may have a more beneficial outcome in patients with ULL and with secondary lymphedema.

Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation.

OBJECTIVE: The aim of this study was to evaluate the prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation (AF). METHODS: A cohort of 136 unrelated patients with idiopathic atrial fibrillation and 200 unrelated, ethnically matched healthy controls were enrolled. The coding exons and splice junctions of the Nkx2.5 gene were sequenced in 136 atrial fibrillation patients, and the available relatives of mutation carriers and 200 controls were subsequently genotyped for the identified mutations. The functional characteristics of the mutated Nkx2.5 gene were analyzed using a dual-luciferase reporter assay system. RESULTS: Two novel heterozygous Nkx2.5 mutations (p.N19D and p.F186S) were identified in 2 of the 136 unrelated atrial fibrillation cases, with a mutational prevalence of approximately 1.47%. These missense mutations co-segregated with atrial fibrillation in the families and were absent in the 400 control chromosomes. Notably, 2 mutation carriers also had congenital atrial septal defects and atrioventricular block. Multiple alignments of the Nkx2.5 protein sequences across various species revealed that the altered amino acids were completely conserved evolutionarily. Functional analysis demonstrated that the mutant Nkx2.5 proteins were associated with significantly reduced transcriptional activity compared to their wild-type counterpart. CONCLUSION: These findings associate the Nkx2.5 loss-of-function mutation with atrial fibrillation and atrioventricular block and provide novel insights into the molecular mechanism involved in the pathogenesis of atrial fibrillation. These results also have potential implications for early prophylaxis and allele-specific therapy of this common arrhythmia.

Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation

OBJECTIVE: The aim of this study was to evaluate the prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation (AF). METHODS: A cohort of 136 unrelated patients with idiopathic atrial fibrillation and 200 unrelated, ethnically matched healthy controls were enrolled. The coding exons and splice junctions of the Nkx2.5 gene were sequenced in 136 atrial fibrillation patients, and the available relatives of mutation carriers and 200 controls were subsequently genotyped for the identified mutations. The functional characteristics of the mutated Nkx2.5 gene were analyzed using a dual-luciferase reporter assay system. RESULTS: Two novel heterozygous Nkx2.5 mutations (p.N19D and p.F186S) were identified in 2 of the 136 unrelated atrial fibrillation cases, with a mutational prevalence of approximately 1.47%. These missense mutations co-segregated with atrial fibrillation in the families and were absent in the 400 control chromosomes. Notably, 2 mutation carriers also had congenital atrial septal defects and atrioventricular block. Multiple alignments of the Nkx2.5 protein sequences across various species revealed that the altered amino acids were completely conserved evolutionarily. Functional analysis demonstrated that the mutant Nkx2.5 proteins were associated with significantly reduced transcriptional activity compared to their wild-type counterpart. CONCLUSION: These findings associate the Nkx2.5 loss-of-function mutation with atrial fibrillation and atrioventricular block and provide novel insights into the molecular mechanism involved in the pathogenesis of atrial fibrillation. These results also have potential implications for early prophylaxis and allele-specific therapy of this common arrhythmia. .

Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system.

OBJECTIVE: To assess the diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) by using high-resolution melting (HRM) analysis and a clinical scoring system. STUDY DESIGN: Genetic variations in the 18 coding exons were prescreened using HRM analysis and then confirmed by direct sequencing. To establish a scoring system, clinical features of 20 patients with NICCD diagnosed in Taiwan between the years 2000 and 2008 were compared with those of 47 patients with biliary atresia and 35 with infantile cholestasis. RESULTS: Eight types of mutations/polymorphisms were identified in patients with NICCD, including 5 mutations in the coding region or splice site (c.851del4, c.1638ins23, R553Q, IVS6+5G > A, IVS11+1G > A), and 3 single-nucleotide polymorphisms (IVS11+17C > G, IVS4+6A > G/rs6957975, and c.1194A > G/rs2301629). The 3 hotspot mutations (c.851del4, c.1638ins23, and IVS6+5G > A) comprised 33/35 (94.3%) mutated alleles. The patients with NICCD had a higher frequency of the rs6957975 polymorphism compared with 103 healthy controls (P < .0001). A 6-point scoring system was proposed according to clinical parameters. The patients with NICCD tended to score ≥ 4 points, whereas biliary atresia and other infantile cholestasis tended to score <4 points (P < .0001). CONCLUSIONS: HRM analysis was efficient and effective in detecting mutations. Three common mutations comprised the majority of mutations found in our patients. The IVS4+6A > G polymorphism was associated with NICCD. A scoring system may help to differentiate patients with NICCD from those with biliary atresia.

Análisis situacional del Sistema de referencia y contra referencia del Distrito de Salud Sara- propuesta de fortalecimiento y mejoramiento a través de acciones en el primer nivel

El sistema de referencia y contra referencia en una red de servicios es la articulación entre los servicios de salud y la población la cual sirve para que el flujo de pacientes y de las informaciones pueda ser en forma organizada y oportuna para garantizar una solución a los problemas de salud de la población.Las nuevas políticas de salud en Bolivia va encaminado hacia la descentralización de los servicios de salud justamente para garantizar el sistema de salud y poder dar la capacidad suficiente a los niveles de gestionar las aplicaciones de políticas de salud que vayan a fortalecer y mejorar los servicios de salud de acuerdo a su nivel de operación.El Distrito Sara es un distrito de recién creación la cual presenta dificultades en la adecuación de los servicios para otorgar a la población la atención adecuada, uno de los problemas identificado es la de no contar con un Hospital de Segundo nivel que otorgue a la población la atención de especialidades básicas produciendo de esa manera la necesidad de referir pacientes a Hospitales de segundo nivel de otros Distritos de Salud.El presente trabajo es un estudio cualitativo mediante la recolección de información de 4 centros de salud y un Hospital de referencia identificado como adecuado en base a entrevista y observación directa de los mismos la cual permitirá un análisis de las fallas del sistema de referencia y contra referencia en el Distrito de Salud Sara para poder llegar a realizar una serie de estrategias con la finalidad de poder lograr la operativización del sistema de referencia y contra referencia en el Distrito

Analisis situacional del sistema de referencia y contrareferencia del Distrito de salud Sara - Propuesta de fortalecimiento y mejoramiento a traves de acciones en el primer nivel / sss

El sistema de referencia y contrareferencia es una red de servicio es la articulacion entre los servicios de salud y la poblacion la cual sirve ellos para que el flujo de pacientes y de las informaciones pueda ser en forma organizada y oportuno para garantizar una solucion a los problemas de salud de la poblacion. Este trabajo es un estudio cualitativo mediante la recoleccion de informacion de 4 centros de salud y un hospital de referencia identificado como adecuado en base a entrevistas y observacion directa de los mismos la cual permitira una analisis de las fallas del sistema de referencia y contrareferencia en el Distrito de Salud Sara para poder llegar a realizar una serie de estrategia con la finalidad de poder lograr la operativizacion del sistema de referencia y contrareferencia en el Distrito...