β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, State of Bahia, Brazil

Five restriction site polymorphisms in the β-globin gene cluster (HincII-5‘ ε, HindIII-G γ, HindIII-A γ, HincII- ψβ1 and HincII-3‘ ψβ1) were analyzed in three populations (n = 114) from Reconcavo Baiano, State of Bahia, Brazil. The groups included two urban populations from the towns of Cachoeira and Maragojipe and one rural Afro-descendant population, known as the “quilombo community”, from Cachoeira municipality. The number of haplotypes found in the populations ranged from 10 to 13, which indicated higher diversity than in the parental populations. The haplotypes 2 (+ - - - -), 3 (- - - - +), 4 (- + - - +) and 6 (- + + - +) on the βA chromosomes were the most common, and two haplotypes, 9 (- + + + +) and 14 (+ + - - +), were found exclusively in the Maragojipe population. The other haplotypes (1, 5, 9, 11, 12, 13, 14 and 16) had lower frequencies. Restriction site analysis and the derived haplotypes indicated homogeneity among the populations. Thirty-two individuals with hemoglobinopathies (17 sickle cell disease, 12 HbSC disease and 3 HbCC disease) were also analyzed. The haplotype frequencies of these patients differed significantly from those of the general population. In the sickle cell disease subgroup, the predominant haplotypes were BEN (Benin) and CAR (Central African Republic), with frequencies of 52.9% and 32.4%, respectively. The high frequency of the BEN haplotype agreed with the historical origin of the afro-descendant population in the state of Bahia. However, this frequency differed from that of Salvador, the state capital, where the CAR and BEN haplotypes have similar frequencies, probably as a consequence of domestic slave trade and subsequent internal migrations to other regions of Brazil

Tumor de Wilms extra-renal: relato de caso Extrarenal Wilms' tumor: a case report

Um caso de tumor de Wilms extra-renal de localização retroperitoneal em uma paciente do sexo feminino de dois anos de idade é apresentado, associado a revisão de literatura. Foram realizados exames de radiografia simples do abdome, urografia excretora, ultra-sonografia e tomografia computadorizada sem e com contraste, que evidenciaram a presença de massa retroperitoneal adjacente ao rim direito. A paciente foi submetida a intervenção cirúrgica, com ressecção de toda a massa, sendo o diagnóstico de tumor de Wilms confirmado com exame anatomopatológico. O tumor de Wilms extra-renal é uma entidade extremamente rara e maligna, descrito na literatura principalmente sob a forma de relato de caso. Pode ocorrer no retroperitônio, útero e ovários, canal inguinal, testículos, pele, e até mesmo no tórax. O mecanismo exato que poderia explicar a ocorrência deste tumor em tecido extra-renal não foi bem estabelecido ainda. O diagnóstico é feito através do estudo anatomopatológico da lesão, geralmente após intervenção cirúrgica.<br>The authors report a case of a two year-old girl with an extrarenal Wilms' tumor in the retroperitoneum. Abdominal plain films, intravenous urography, abdominal ultrasound and computed tomography examinations showed a retroperitoneal mass adjacent to the right kidney. The patient underwent surgery with complete resection of the mass. The diagnosis of Wilms' tumor was confirmed by histopathological study. Extrarenal Wilms' tumor is an extremely rare malignancy which is almost always presented in medical literature as a case report. The tumor may arise in the retroperitoneum, uterus and ovaries, inguinal groove, testes, skin, and even in the thorax. The exact mechanism of occurrence of this tumor in extrarenal tissues has not yet been established. The diagnosis relies on histopathological study, generally after surgical intervention

The Surgical Algorithm for the AO Spine Sacral Injury Classification System

Study design: Global cross-sectional survey. Objective: To establish a surgical algorithm for sacral fractures based on the AO Spine Sacral Injury Classification System. Summary of background data: Although the AO Spine Sacral Injury Classification has been validated across an international audience of surgeons, a consensus on a surgical algorithm has yet to be developed for sacral fractures by using the Sacral AO Spine Injury Score (Sacral AOSIS). Methods: A survey was sent to general orthopedic surgeons, orthopedic spine surgeons, and neurosurgeons across the five AO Spine regions of the world. Descriptions of controversial sacral injuries based on different fracture subtypes were given and surgeons were asked whether the patient should undergo operative or non-operative management. The results of the survey were used to create a surgical algorithm based on each subtypes' Sacral AOSIS. Results: International agreement of 70% was decided on by the AO Spine Knowledge Forum Trauma experts to indicate a recommendation of initial operative intervention. Using this, sacral fracture subtypes of AOSIS 5 or greater were considered operative while those with AOSIS 4 or less were generally non-operative. For subtypes with an AOSIS of 3 or 4, if the sacral fracture was associated with an anterior pelvic ring injury (M3 case-specific modifier), intervention should be left to the surgeons' discretion. Conclusion: The AO Spine Sacral Injury Classification System offers a validated hierarchical system to approach sacral injuries. Through multi-specialty and global surgeon input, a surgical algorithm was developed to determine appropriate operative indications for sacral trauma. Further validation is required, but this algorithm provides surgeons across the world with the basis for discussion and the development of standard of care treatment. Level of evidence: Level IV