Lumbar disc herniation is the most common diagnosis among the degenerative abnormalities of the lumbar spine (affecting 2 to 3% of the population), and is the principal cause of spinal surgery among the adult population. The typical clinical picture includes initial lumbalgia, followed by progressive sciatica. The natural history of disc herniation is one of rapid resolution of the symptoms (four to six weeks). The initial treatment should be conservative, managed through medication and physiotherapy, sometimes associated with percutaneous nerve root block. Surgical treatment is indicated if pain control is unsuccessful, if there is a motor deficit greater than grade 3, if there is radicular pain associated with foraminal stenosis, or if cauda equina syndrome is present. The latter represents a medical emergency. A refined surgical technique, with removal of the extruded fragment and preservation of the ligamentum flavum, resolves the sciatic symptoms and reduces the risk of recurrence over the long term.

Purpose: Hereditary Breast and Ovarian Cancer (HBOC) syndrome is responsible for ∼5-10% of all diagnosed breast and ovarian cancers. Breast cancer is the most common malignancy and the leading cause of cancer-related mortality among women in Latin America (LA). The main objective of this study was to develop a comprehensive understanding of the genomic epidemiology of HBOC throughout the establishment Oliver et al. Latin American HBOC Study of The Latin American consortium for HBOC-LACAM, consisting of specialists from 5 countries in LA and the description of the genomic results from the first phase of the study. Methods: We have recruited 403 individuals that fulfilled the criteria for HBOC from 11 health institutions of Argentina, Colombia, Guatemala, Mexico and Peru. A pilot cohort of 222 individuals was analyzed by NGS gene panels. One hundred forty-three genes were selected on the basis of their putative role in susceptibility to different hereditary cancers. Libraries were sequenced in MiSeq (Illumina, Inc.) and PGM (Ion Torrent-Thermo Fisher Scientific) platforms. Results: The overall prevalence of pathogenic variants was 17% (38/222); the distribution spanned 14 genes and varied by country. The highest relative prevalence of pathogenic variants was found in patients from Argentina (25%, 14/57), followed by Mexico (18%, 12/68), Guatemala (16%, 3/19), and Colombia (13%, 10/78). Pathogenic variants were found in BRCA1 (20%) and BRCA2 (29%) genes. Pathogenic variants were found in other 12 genes, including high and moderate risk genes such as MSH2, MSH6, MUTYH, and PALB2. Additional pathogenic variants were found in HBOC unrelated genes such as DCLRE1C, WRN, PDE11A, and PDGFB. Conclusion: In this first phase of the project, we recruited 403 individuals and evaluated the germline genetic alterations in an initial cohort of 222 patients among 4 countries. Our data show for the first time in LA the distribution of pathogenic variants in a broad set of cancer susceptibility genes in HBOC. Even though we used extended gene panels, there was still a high proportion of patients without any detectable pathogenic variant, which emphasizes the larger, unexplored genetic nature of the disease in these populations.

RESUMOA hérnia discal lombar é o diagnóstico mais comum dentre as alterações degenerativas da coluna lombar (acomete 2 a 3% da população) e a principal causa de cirurgia de coluna na população adulta. O quadro clínico típico inclui lombalgia inicial, seguida de lombociatalgia e, finalmente, de dor ciática pura. A história natural da hérnia de disco é de resolução rápida dos sintomas (quatro a seis semanas). O tratamento inicial deve ser conservador, com manejo medicamentoso e fisioterápico, podendo ser acompanhado ou não por bloqueios percutâneos radiculares. O tratamento cirúrgico está indicado na falha do controle da dor, déficit motor maior que grau 3, dor radicular associada à estenose óssea foraminal ou síndrome de cauda equina, sendo esta última uma emergência médica. Uma técnica cirúrgica refinada, com remoção do fragmento extruso, e preservação do ligamento amarelo, resolve a sintomatologia da ciática e reduz a possibilidade de recidiva em longo prazo. descritores - Keywords -Lumbar disc herniation; Ligamentum flavum; Sciatica; Surgical treatment INTRODUçãOA hérnia discal lombar consiste de um deslocamento do conteúdo do disco intervertebral -o núcleo pulposo -através de sua membrana externa, o ânulo fibroso, geralmente em sua região posterolateral. Dependendo do volume de material herniado, poderá haver compressão e irritação das raízes lombares e do saco dural, representadas clinicamente pela dor conhecida como ciática. Essa dor é conhecida desde a Antiguidade, mas a sua relação com a hérnia discal não foi descoberta até o início do século 20, quando Mixter e Barr a descreveram (1) . Atualmente, a hérnia discal lombar é o diagnóstico mais comum dentre as alterações degenerativas da coluna lombar e a principal causa de cirurgia de coluna. Fatores como maior acesso a cuidados médicos, precocidade na solicitação de exames de imagem e segurança dos procedimentos cirúrgicos levam a altas taxas de cirurgia, condição que é geralmente autolimitada.O tratamento da hérnia discal lombar evoluiu das ressecções transdurais para a abordagem convencional (2,3) , seguida da microcirurgia até a cirurgia endoscópica e percutânea. Atualmente. a hérnia discal lombar é a condição que mais leva à cirurgia de coluna, principalmente em homens ao redor dos 40 anos de idade (4) . Esta revisão visa discutir os principais aspectos de epidemiologia, diagnóstico e tratamento da hérnia discal lombar.

IntroductionMaroteaux–Lamy syndrome, or mucopolysaccharidosis (MPS) type VI, is an autosomal recessive lysosomal storage disease caused by a deficient activity of the enzyme arylsulfatase B (ARSB), required to degrade dermatan sulfate. The onset and progression of the disease vary, producing a spectrum of clinical presentation. So far, 133 mutations have been reported. The aim of this study is to determine the mutations in the ARSB gene that are responsible for this disease in Colombian patients.ResultsFourteen patients with clinical manifestations and biochemical diagnosis of MPS VI were studied, including two siblings. The 8 exons of the gene were directly sequenced from patients' DNA, and 14 mutations were found. 57% of these mutations had not been previously reported (p.H111P, p.C121R, p.G446S, p.*534W, p.S334I, p.H147P, c.900T > G, and c.1531_1553del) and 43% had been previously reported (p.G144R, p.W322*, p.G302R, p.C447F, p.L128del, and c.1143-1G > C). Of the previously reported mutations, 80% have been associated with severe phenotypes and 20% with intermediate-severe phenotypes. Bioinformatic predictions indicate that the new mutations reported in this paper are also highly deleterious.ConclusionsMost of the Colombian patients in this study had private mutations.

Introduction: Preterm infants (<37 weeks of gestation) have low levels of thyroid hormones due to multiple factors. Objective: To evaluate levels of thyroid-stimulation hormone (TSH) in the program congenital hypothyroidism (CH) newborn screening in a sample of preterm infants in the city of Bogotá, Colombia. Methods: The Secretaría de Salud Distrital screening protocol for CH (blood sample is collected from the umbilical cord in all the newborns) remeasured the serum TSH and heel TSH when preterm infants completed 37 weeks of gestation. Results: A total of 59 preterm neonates were rescreened, of which 2 neonates had elevated levels of TSH and 1 neonate had transient hypothyroxinemia. The Kolmogorov-Smirnov 2-sample/bilateral statistical test was used to compare the neonatal TSH levels of preterm and full-term newborns, which do not follow the same distribution. Conclusion: In our pilot study, 2 of the rescreened infants presented high levels of TSH and 1 had transient hyperthyrotropinemia, suggesting the need for rescreening of preterm infants. Additionally, a larger study should be performed to determine the screening cutoff values for preterm newborns.