In vitro fertilization: an unexpected finding in a cohort of patients with biliary atresia

In biliary atresia (BA), efforts to prevent premature liver transplantation (LT) are aimed at early diagnosis, timing of Kasai-portoenterostomy (KPE), and centralization of care. This report presents the clinical picture, treatment strategies, and outcomes of BA patients with no previous treatment. A retrospective cohort study (Jan/2001 to Jan/2021) was conducted to evaluate the outcome of patients with BA referred to a single team. Study groups were: 1) Kasai-only group (K-only) n=9), 2) LT-only group (n=7), and 3) Kasai+LT group (K+LT) (n=23). Survival with native liver and overall survival were 22.9 and 94.8%, respectively, at 120 months of follow-up. There was no difference in age at KPE in the K-only group (46.8±21.8 days) vs K+LT (52.1±22 days), P=0.4. Ten (25.6%) patients were babies conceived through in vitro fertilization (IVF). Four IVF patients (40%) presented associated congenital heart disease vs 5 patients (17%) in the remaining group (P=0.14). Two of the IVF patients were premature (<37 weeks). Median maternal age at birth was 35 years (33 to 41 years). Excellent patient survival is expected for patients with BA with the available treatment strategies. IVF+BA was an unexpected prevalent association in this cohort, and further studies are required to better understand these findings.

Successful domino liver transplantation in maple syrup urine disease using a related living donor

Maple syrup urine disease (MSUD) is an autosomal recessive disease associated with high levels of branched-chain amino acids. Children with MSUD can present severe neurological damage, but liver transplantation (LT) allows the patient to resume a normal diet and avoid further neurological damage. The use of living related donors has been controversial because parents are obligatory heterozygotes. We report a case of a 2-year-old child with MSUD who underwent a living donor LT. The donor was the patient's mother, and his liver was then used as a domino graft. The postoperative course was uneventful in all three subjects. DNA analysis performed after the transplantation (sequencing of the coding regions of BCKDHA, BCKDHB, and DBT genes) showed that the MSUD patient was heterozygous for a pathogenic mutation in the BCKDHB gene. This mutation was not found in his mother, who is an obligatory carrier for MSUD according to the family history and, as expected, presented both normal clinical phenotype and levels of branched-chain amino acids. In conclusion, our data suggest that the use of a related donor in LT for MSUD was effective, and the liver of the MSUD patient was successfully used in domino transplantation. Routine donor genotyping may not be feasible, because the test is not widely available, and, most importantly, the disease is associated with both the presence of allelic and locus heterogeneity. Further studies with this population of patients are required to expand the use of related donors in MSUD.

Non-colonial coral macro-borers as indicators of coral reef status in the south Pacific of Costa Rica

Coral reef status was surveyed in three south Pacific coral reefs of Costa Rica, one in Caño Island and two in Golfo Dulce, and the density, richness and distribution of non-colonial macro borers (>1 mm) was determined in dead and live coral fragments from these reefs. Based upon traditional indicators of degradation such as high particulate suspended matter and low live coral cover, the reefs at Caño Island are in better condition than those at Golfo Dulce. Reef degradation in Golfo Dulce is mainly due to high loads of terrestrial sediments as a consequence of watersheds deforestation. In this study, 36 coral boring species are reported for the eastern Pacific. At the family level, there is high endemism (10%) and greater affinity with the Indo-Pacific (34%), as compared with the eastern Atlantic and Mediterranean (29%) and western Atlantic and Caribbean (27%). The dominant non-colonial macro boring families at the study reefs are mytilid bivalves, eunicid polychaetes and aspidosiphonid sipunculans, with the bivalves considered the main internal bioeroders due to their greater body size and abundances. The level of mortality of the coral colonies and the general level of reef degradation influenced the composition of non-colonial macro-borers. Diversity and total macro-borer density, especially aspidosiphonid density, is higher in corals with greates dead than live cover. In the healthiest coral colonies (less than 50% of partial mortality), mytilids domination, macro-borer diversity and total density, is higher in Golfo Dulce, where reefs are more degraded. In the most affected coral colonies (more than 50% dead), macro-borers total density, especially aspidosiphonids density, is higher, of the healthiest reef of this study, Platanillo. Bivalve relative abundance increases and sipunculan relative abundance decreases with increasing site degradation. In conclusion bioeroder variables can also be used as reef health indicators.

Se diagnosticó el estado de salud de tres arrecifes del Pacífico sur de Costa Rica, uno en Isla del Caño y dos en Golfo Dulce, y se determinó la densidad, la riqueza y la distribución de los macroperforadores no coloniales (>1 mm) en fragmentos de coral vivos y muertos. Basándose en los indicadores tradicionales de degradación como alta materia particulada en suspensión y baja cobertura de coral, los arrecifes de Isla del Caño están en mejor condición que los de Golfo Dulce. La degradación en Golfo Dulce se debe principalmente a la gran cantidad de sedimentos terrestres generados por la deforestación de las cuencas de los ríos. En total se han reportado 36 especies de macroperforadores de coral, incluyendo este estudio, para el Pacífico oriental. A nivel de familia hay algo de endemismo (10%), y una mayor afinidad con el Indo-Pacífico (34%) que con el Atlántico oriental y el Mediterráneo (29%) y el Atlántico occidental y el Caribe (27%). Las familias de macroperforadores no coloniales más dominantes en los arrecifes estudiados son los bivalvos mitílidos, los poliquetos eunícidos y los sipuncúlidos aspidosifónidos. Los bivalvos son considerados los principales bioerosionadores internos debido a su gran tamaño y abundancia. El grado de mortalidad de las colonias coralinas y el nivel general de degradación arrecifal están relacionados con la composición de los macroperforadores no coloniales. La diversidad y la densidad total de macroperforadores, especialmente la densidad de aspidosifónidos es mayor en corales con una superficie muerta mayor que la viva. En colonias de coral con una superficie viva de más de 50%, la dominancia de mitílidos, la diversidad de los macroperforadores y la densidad total, son mayores en los arrecifes de Golfo Dulce que están más degradados. En colonias con más del 50% de mortalidad, la densidad total de macro-perforadores, especialmente aspidosifónidos, es mayor en el arrecife Platanillo de Isla del Caño, el arrecife más...

Encurtamento da ulna para correcao dos desarranjos traumaticos da articulacao radio-ulnar distal. / Shortening of the ulna for correction of traumatic disorders of distal radio-ulnar joint

Vinte e quatro pacientes com desarranjo da articulacao radio-ulnar distal foram submetidos ao encurtamento da ulna segundo tecnica de Milch modificada. Foram avaliados 18 pacientes, nos quais houve apreciavel melhora da dor e do aspecto estetico do punho. Considerou-se tambem satisfatoria a melhora da forca de preensao, mobilidade e opiniao dos pacientes com relacao a cirurgia. As complicacoes consistiram em pseudartroses (22%), cujo resultado nao foi satisfatorio em relacao a alivio da dor e forca de preensao nos 4 casos deixados como tal. Aparentemente, o material de osteossintese influi no advento das pseudartroses