Navigating the Indeterminate Zone: Surgeons' Decision-Making Factors in Treating Vertebral Metastases with Spinal Instability Scores of 7-12.

BACKGROUND: The Spinal Instability Neoplastic Score (SINS) classification system is a validated and the most widely accepted instrument for defining instability in vertebral metastasis (VM), in which lesions scoring between 7 and 12 are defined as indeterminate and the treatment is controversial. This study aimed to determine which variables more frequently are considered by spine surgeons for choosing between the conservative and the surgical treatment of VMs among patients with an indeterminate SINS. METHODS: A single-round online survey was conducted with 10 spine surgeons with expertise in the management of VMs from our AO Spine Region. In this survey, each surgeon independently reviewed demographic and cancer-related variables of 36 real-life cases of patients with vertebral metastases scored between 7 and 12 in the SINS. Bivariate and multivariate analyses were performed to identify significant SINS and non-SINS variables influencing the decision-making on surgical treatment. RESULTS: The most commonly variables considered important were the SINS element "mechanical pain", rated important for 44.4% of the cases, "lesion type" for 36.1%, and "degree of vertebral collapse" and the non-SINS factor "tumor histology" rated for 13.9% of cases. By far the factor most commonly rated unimportant was "posterior element compromise" (in 72.2% of cases). CONCLUSIONS: Surgeons relied on mechanical pain and type of metastatic lesion for treatment choices. Vertebral collapse, spinal malalignment, and mobility were less influential. Spinal mobility was a predictor of surgical versus non-surgical treatment. The only variables not identified either by surgeons themselves or as a predictor of surgery selection was the presence/degree of posterolateral/posterior element involvement.

A Scoping Review about the Characteristics and Success-Failure Rates of Temporary Anchorage Devices in Orthodontics.

This study synthesized the scientific evidence concerning the main characteristics of the Temporary Anchorage Devices (TADs) used in orthodontics and reported the success-failure rates during treatment. For that means, this scoping review collected articles from previous research. A complementary search was carried out in the databases PubMed-MEDLINE, Scopus, LILACS, and EMBASE, focusing on original studies published from 2010 to 2020. We analyzed the main characteristics of the publications. As a result, 103 articles were included. Most of the research was conducted among different groups, who needed TADs principally in the maxilla and an interradicular location between the second premolar and first molar. AbsoAnchor, Dentos Inc., Daegu, Korea, was the most used brand of TADs. The most common characteristics of the devices and biomechanics were a diameter and length of 1.6 mm and 8 mm, a self-drilled system, a closed technique for placement, immediate loading, and forces that ranged between 40 and 800 g. Of the studies, 47.6% showed success rates ≥90%. In conclusion, high success rates were found for TADs, and differences were found according to sociodemographic and clinical variables. The studies showed variability in methodological design, and scientific publications were concentrated in certain countries. We recommend further scientific research on TADs using more standardized designs.

Hipercolesterolemia familiar: serie de 36 casos con fenotipo de hipercolesterolemia familiar homocigótica / Familial hypercholesterolaemia: A study of 36 cases with a phenotype of homozygous familiar hypercholesterolaemia

Resumen Introducción: La hipercolesterolemia familiar homocigótica (HFHo) se caracteriza por niveles muy elevados de cLDL y por enfermedad aterosclerótica temprana. Aunque la frecuencia es baja (1/300.000), las complicaciones son muy severas y pueden ser evitadas. Encontrar y tratar esta población de manera temprana podría reducir la mortalidad. Se describen 36 casos en Colombia, en donde se calcula que haya entre 160 y 200 casos. Resultados: Un total de 36 pacientes con fenotipo sugestivo de HFHo fueron identificados y tratados en un período de observación de cuatro años. La media de edad fue 27 años (24 mujeres). 34 pacientes tuvieron un puntaje según la Red de Clínicas de Lípidos de Holanda (RCLH) mayor de 8 (diagnóstico definitivo) y los restantes 2 tenían puntaje equivalente a diagnóstico probable. Un cuarto de los casos procedían de la costa norte colombiana. En las pruebas genéticas, 14 fueron homocigóticos verdaderos para mutación del gen que codifica para el receptor de LDL (LDLR), 12 heterocigóticos compuestos, 2 heterocigóticos dobles y uno autosómico recesivo (LDLRAP1); 5 pacientes fueron heterocigóticos simples (LDLR) y 2 pacientes no autorizaron la prueba. En los homocigóticos verdaderos, la variante más frecuente encontrada fue la c.11G>A. 14 pacientes cursaron con enfermedad coronaria, 9 con estenosis carotídea, 8 con estenosis aórtica y 2 tuvieron ataques cerebrovasculares (ACV). 34 pacientes recibían estatinas (24 rosuvastatina), 30 recibían ezetimibe, 2 recibían evolocumab y 20 recibían lomitapide (dosis promedio 12,7mg). Ninguno recibió aféresis de cLDL. Los medicamentos, en general, fueron bien tolerados y la reducción promedio de cLDL con la terapia fue de 533,7mg/dl a 245,1mg/dl (54%). Conclusiones: Todos los pacientes recibieron tratamiento hipolipemiante y se encontraron alteraciones genéticas diagnósticas en todos aquellos que autorizaron el examen. Los niveles elevados de cLDL conllevan tanto riesgo que el tratamiento debe establecerse aún sin conocer el diagnóstico genético.

Abstract Background: Homozygous familial hypercholesterolemia (HoFH) is characterized for very high levels of cLDL and early cardiovascular disease. Although incidence is low (1/300 000), complications are very severe and can be avoided. Finding and treating this population promptly could reduce mortality. We describe 36 cases in Colombia, where 160 to 200 cases are expected. Results: 36 patients with phenotype of HoHF were identified and treated in a follow-up of 4 years. The mean age was 27 years (24 women). 34 of them had at least 8 points in the FH Dutch Lipid Clinic Criteria (definitive diagnosis) and two had probable diagnosis. A quarter of the cases came from the Colombian North Coast. In molecular tests, 14 were true homozygous for LDLR, 12 were compound heterozygous for LDLR, 2 double heterozygous and one was autosomal recessive; 5 were heterozygous and 2 patients did not authorized genetic test. In true homozygous subjects, the most frequent variant was c.11G>A. 14 patients had coronary disease, 9 carotid stenosis, 8 aortic stenosis and 2 had stroke. 34 patients were on statins (25 rosuvastatin), 30 were receiving ezetimibe, 2 were receiving a PSCK9 inhibitor (evolocumab) and 20 were on lomitapide with mean doses of 12.7mg. None received lipoprotein apheresis. Medications were very well tolerated. Changes in cLDL after therapy was from 533.7 mg/dL to 245 mg/dL, (54%). Conclusions: Treatment was started in all patients. We found genetic mutations in all patients with genetic tests. The high levels of cLDL mean such a high risk that treatment must be started promptly, even without a genetic test.

Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.

VACTERL association (OMIM 192350) is a heterogeneous clinical condition characterized by congenital structural defects that include at least 3 of the following features: vertebral abnormalities, anal atresia, heart defects, tracheoesophageal fistula, renal malformations, and limb defects. The nonrandom occurrence of these malformations and some familial cases suggest a possible association with genetic factors such as chromosomal alterations, gene mutations, and inherited syndromes such as Fanconi anemia (FA). In this study, the clinical phenotype and its relationship with the presence of chromosomal abnormalities and FA were evaluated in 18 patients with VACTERL association. For this, a G-banded karyotype, array-comparative genomic hybridization, and chromosomal fragility test for FA were performed. All patients (10 female and 8 male) showed a broad clinical spectrum: 13 (72.2%) had vertebral abnormalities, 8 (44.4%) had anal atresia, 14 (77.8%) had heart defects, 8 (44.4%) had esophageal atresia, 10 (55.6%) had renal abnormalities, and 10 (55.6%) had limb defects. Chromosomal abnormalities and FA were ruled out. In 2 cases, the finding of microalterations, namely del(15)(q11.2) and dup(17)(q12), explained the phenotype; in 8 cases, copy number variations were classified as variants of unknown significance and as not yet described in VACTERL. These variants comprise genes related to important cellular functions and embryonic development.

Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.

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 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.

Relationship between nutritional status and sleep duration in Chilean school-age children

To establish the relationship between sleep duration, nutritional status and caffeinated beverage consumption patterns in school-age Chilean children. Method: The study was conducted in 805 schoolage children, between 6- and 10-years old from 6 neighborhoods in Santiago, Chile. Parents completed a questionnaire, which assessed sleep duration, physical activity and food intake. Anthropometric measurements were completed for children. Results: 52.6% of school-age children were obese and 46.4% slept the recommended amount (≥10 hours). Normal weight subjects slept significantly more hours than obese participants, 9.8 ± 0.9 vs. 9.6 ± 0.9, respectively. Sleep duration during the week was inversely associated to obesity (OR: 3.5, 95% CI 1.3-9.2). Children drank the following beverages at night: caffeinated soft drinks (52.2 %), coffee and/or tea (32.6%) and 21.2 % both soft drinks and coffee tea caffeine beverages Conclusion: Over half of this sample of school-age Chilean children slept less than the recommended (≥10 hours) amount, with obese participants sleeping less than normal weight subjects. The intake of caffeine products in particular, caffeinated soft drinks,was higher during the night in both groups(AU)

Establecer la relación entre cantidad de sueño, estado nutricional y consumo de cafeína en escolares Métodos: El estudio fue realizado en 805 escolares, entre 6 a 10 años de 6 comunas de Santiago de Chile. Los padres completaron las encuestas de sueño, actividad física y consumo de alimentos. A los escolares se les realizó una evaluación antropométrica. Resultados: El 56,2% de los escolares era obeso, el 46,4% dormía menos de lo recomendado (≥10 horas). La cantidad de sueño fue significativamente mayor en los escolares normopeso que en los obesos 9,8 ± 0,9 vs 9,6 ± 0,9, respectivamente. La cantidad de sueño durante la semana fue inversamente asociada a obesidad (OR: 3,5; 95% CI 1,3-9,2). Los escolares bebían en la noche antes de dormir: bebidas carbonadatas con cafeína (52,2%), café y/o té (32,6%) y un 21,2% ambos tipos de bebidas. Conclusión: Más de la mitad de esta muestra de niños en edad escolar, dormia menos de la cantidad recomendada (≥ 10 horas), los escolares obesos dormían menos de sujetos de peso normal. Además se observa una ingesta en la noche de bebidas carbonatadas con cafeína elevada en ambos grupos(AU)

Mosaic trisomy 8 detected by fibroblasts cultured of skin.

INTRODUCTION: Mosaic trisomy 8 or "Warkany's Syndrome" is a chromosomopathy with an estimated prevalance of 1:25,000 to 1:50,000, whose clinical presentation has a wide phenotypic variability. CASE DESCRIPTION: Patient aged 14 years old with antecedents of global retardation of development, moderate cognitive deficit and hypothyroidism of possible congenital origin. CLINICAL FINDINGS: Physical examination revealed palpebral ptosis, small corneas and corectopia, hypoplasia of the upper maxilla and prognathism, dental crowding, high-arched palate, anomalies of the extremities such as digitalization of the thumbs, clinodactyly and bilateral shortening of the fifth finger, shortening of the right femur, columnar deviation and linear brown blotches that followed Blaschko's lines. Cerebral nuclear magnetic resonance revealed type 1 Chiari's malformation and ventriculomegaly. Although the karyotype was normal in peripheral blood (46,XY), based on the finding of cutaneous mosaicism the lesions were biopsied and cytogenetic analysis demonstrated mosaic trisomy 8: mos 47,XY,+8[7]/46,XY[93]. CLINICAL RELEVANCE: Trisomy 8 is clinically presented as a mosaic, universal cases being unfailingly lethal. In this particular case, cutaneous lesions identified the mosaic in tissue, although the karyotype was normal in peripheral blood. The cutaneous mosaicism represented by brown linear blotches which follow Blaschko's lines is a clinical finding that has not previously been described in Warkany's syndrome.

INTRODUCCIÓN: La trisomía 8 en mosaico o Síndrome de Warkany, es una cromosomopatía con una prevalencia estimada de 1:25,000 a 1:50,000, que se presenta clínicamente con una amplia variabilidad fenotípica. DESCRIPCIÓN DEL CASO: Paciente de 14 años con antecedente de retardo global del desarrollo, déficit cognitivo moderado e hipotiroidismo de posible origen congénito. HALLAZGOS CLÍNICOS: Al examen físico presenta ptosis palpebral, corneas pequeñas y corectopia, hipoplasia de maxilar superior y prognatismo, apiñamiento dental, paladar alto ojival, anomalías en extremidades como digitalización de pulgares, clinodactilia y acortamiento bilateral del quinto dedo en manos, acortamiento de fémur derecho, desviación de columna y máculas lineales pardas que siguen las líneas de Blaschko. En la resonancia nuclear magnética cerebral se aprecia malformación de Chiari tipo 1 y ventriculomegalia. El cariotipo en sangre periférica fue normal (46,XY) sin embargo, ante el hallazgo de mosaicismo cutáneo, se realizó biopsia de las lesiones y su análisis citogenético demostró trisomía 8 en mosaico: mos47,XY,+8[7] /46,XY[93]. RELEVANCIA CLÍNICA: La trisomía 8 se presenta clínicamente en mosaico, los casos universales son indefectiblemente letales. En este caso particular, las lesiones cutáneas identificaron el mosaico en tejido, frente al cariotipo normal en sangre periférica. El mosaicismo cutáneo representado por las máculas lineales pardas (que siguen las líneas de Blaschko) es un hallazgo clínico que no se había descrito en el síndrome de Warkany.

Doble carga de malnutrición durante el crecimiento: ¿una realidad latente en Colombia? / Double burden malnutrition during growth: is becoming a reality in Colombia?

Sucesivos reportes en la última década describen la coexistencia de la malnutrición por exceso con el déficit de micronutrientes en países desarrollados y en vía de desarrollo. Esta condición puede ser especialmente deletérea en niños y adolescentes con consecuencias en el riesgo metabólico y en el crecimiento desde edades tempranas. En este trabajo se muestra la evidencia sobre la doble carga de malnutrición durante el periodo de crecimiento con enfoque en 8 nutrientes (hierro, zinc, calcio, vitamina D, vitamina A, sodio, ácido fólico y vitamina B12) y su posible mecanismo de acción en el desarrollo de enfermedades crónicas en las diferentes etapas de la vida. En Colombia, según las dos últimas encuestas nacionales de la situación nutricional (ENSIN 2005 y 2010), se ha dado un aumento rápido de la obesidad en todas las edades, que se acompaña de cifras alarmantes de déficit de zinc, vitamina A y anemia, en menores de 5 años. Esta realidad de doble carga de malnutrición debe considerarse de manera urgente en la agenda de salud pública y actuar de manera efectiva implementando estrategias sólidas y adaptadas a la realidad del país, basadas en la evidencia científica, para prevenir la morbimortalidad atribuida a esta condición.(AU)

Several reports have described in the last decade the coexistence of accelerated increase of obesity with micronutrient deficiencies in developed countries, and is becoming evident in developing nations. This condition may be especially deleterious in children and adolescents with consequences in metabolic risk and growth since early in life. This review describes the evidence of double burden malnutrition during growth period focused on six nutrients (iron, zinc, calcium, vitamin D, vitamin A, sodium, folic acid and vitamin B12) and its biological mechanisms associated with non-communicable disease through span life. In Colombia, according to the last national health and nutrition surveys (2005 vs. 2010), there is an increase in the prevalence of obesity in all age groups; that is accompanied with alarming figures of zinc and vitamin A deficiency and anemia in children under 5 years. This reality of double burden malnutrition should be considered urgently on the public health agenda, implementing robust strategies adapted to the reality of the country based on scientific evidence to prevent mobility and mortality associated with this condition.(AU)

Mosaic trisomy 8 detected by fibroblasts cultured of skin / Mosaico trisomía 8 detectada por los cultivos de fibroblastos de la piel

Introduction: Mosaic trisomy 8 or "Warkany's Syndrome" is a chromosomopathy with an estimated prevalance of 1:25,000 to 1:50,000, whose clinical presentation has a wide phenotypic variability. Case Description: Patient aged 14 years old with antecedents of global retardation of development, moderate cognitive deficit and hypothyroidism of possible congenital origin. Clinical Findings: Physical examination revealed palpebral ptosis, small corneas and corectopia, hypoplasia of the upper maxilla and prognathism, dental crowding, high-arched palate, anomalies of the extremities such as digitalization of the thumbs, clinodactyly and bilateral shortening of the fifth finger, shortening of the right femur, columnar deviation and linear brown blotches that followed Blaschko's lines. Cerebral nuclear magnetic resonance revealed type 1 Chiari's malformation and ventriculomegaly. Although the karyotype was normal in peripheral blood (46,XY), based on the finding of cutaneous mosaicism the lesions were biopsied and cytogenetic analysis demonstrated mosaic trisomy 8: mos 47,XY,+8[7]/46,XY[93]. Clinical Relevance: Trisomy 8 is clinically presented as a mosaic, universal cases being unfailingly lethal. In this particular case, cutaneous lesions identified the mosaic in tissue, although the karyotype was normal in peripheral blood. The cutaneous mosaicism represented by brown linear blotches which follow Blaschko's lines is a clinical finding that has not previously been described in Warkany's syndrome.

Introducción: La trisomía 8 en mosaico o Síndrome de Warkany, es una cromosomopatía con una prevalencia estimada de 1:25,000 a 1:50,000, que se presenta clínicamente con una amplia variabilidad fenotípica. Descripción del Caso: Paciente de 14 años con antecedente de retardo global del desarrollo, déficit cognitivo moderado e hipotiroidismo de posible origen congénito. Hallazgos Clínicos: Al examen físico presenta ptosis palpebral, corneas pequeñas y corectopia, hipoplasia de maxilar superior y prognatismo, apiñamiento dental, paladar alto ojival, anomalías en extremidades como digitalización de pulgares, clinodactilia y acortamiento bilateral del quinto dedo en manos, acortamiento de fémur derecho, desviación de columna y máculas lineales pardas que siguen las líneas de Blaschko. En la resonancia nuclear magnética cerebral se aprecia malformación de Chiari tipo 1 y ventriculomegalia. El cariotipo en sangre periférica fue normal (46,XY) sin embargo, ante el hallazgo de mosaicismo cutáneo, se realizó biopsia de las lesiones y su análisis citogenético demostró trisomía 8 en mosaico: mos47,XY,+8[7]/46,XY[93]. Relevancia Clínica: La trisomía 8 se presenta clínicamente en mosaico, los casos universales son indefectiblemente letales. En este caso particular, las lesiones cutáneas identificaron el mosaico en tejido, frente al cariotipo normal en sangre periférica. El mosaicismo cutáneo representado por las máculas lineales pardas (que siguen las líneas de Blaschko) es un hallazgo clínico que no se había descrito en el síndrome de Warkany.

Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

INTRODUCTION: Maroteaux-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. RESULTS: Fourteen 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. CONCLUSIONS: Most of the Colombian patients in this study had private mutations.

[Double burden malnutrition during growth: is becoming a reality in Colombia?] / Doble carga de malnutrición durante el crecimiento: ¿una realidad latente en Colombia?

Several reports have described in the last decade the coexistence of accelerated increase of obesity with micronutrient deficiencies in developed countries, and is becoming evident in developing nations. This condition may be especially deleterious in children and adolescents with consequences in metabolic risk and growth since early in life. This review describes the evidence of double burden malnutrition during growth period focused on six nutrients (iron, zinc, calcium, vitamin D, vitamin A, sodium, folic acid and vitamin B12) and its biological mechanisms associated with non-communicable disease through span life. In Colombia, according to the last national health and nutrition surveys (2005 vs. 2010), there is an increase in the prevalence of obesity in all age groups; that is accompanied with alarming figures of zinc and vitamin A deficiency and anemia in children under 5 years. This reality of double burden malnutrition should be considered urgently on the public health agenda, implementing robust strategies adapted to the reality of the country based on scientific evidence to prevent mobility and mortality associated with this condition.

Computational Analysis and Functional Prediction of Ubiquitin Hypothetical Protein: A Possible Target in Parkinson Disease.

Parkinson's disease (PD) is a high prevalent progressive neurodegenerative disorder characterized by degeneration of dopaminergic neurons and intracytoplasmatic aggregation of α-synuclein called Lewy Bodies. Anomalies in the proteasomal and endosomal ubiquitin related degradation of α-synuclein have been related with PD. Among the different proteins described in ubiquitin pathway, the hypothetical protein CAB55973.1 was identified previously. Here we modeled this hypothetical protein in order to contribute to the understanding of PD pathogenesis that should be served as an input in the future as drug targets. This study predicted a three-dimensional model of the complete sequence of hypothetical protein CAB55973.1 with a high value of identity and a good homology quality. Subcellular localization was found in the cytoplasm, mainly in the endosomal membrane. 36 protein-protein interactions related to PD were found. 11 residues were predicted to interact with target proteins for ubiquitination. Binding site prediction showed that one domain (residues 163 to 238) might be involved in ubiquitination of target proteins. In this ubiquitin domain, residues were distributed similarly to those of the binding site of the ubiquitin interacting with the UIM of Hrs protein (PDB 2D3G). The hypothetical protein was constructed based on the complete sequence alignment, which allowed predicting the structure with a high accuracy. The functional prediction showed that only one domain of the hypothetical protein might be involved in the α- synuclein ubiquitination of the endosomal pathway of the PD.

Evaluation of TSH Levels in the Program of Congenital Hypothyroidism Newborn Screening in a Pilot Study of Preterm Newborns in Bogotá, Colombia

Abstract 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.

LUMBAR DISC HERNIATION.

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.

Hérnia discal lombar / Lumbar disc herniation

A hérnia discal lombar é o diagnóstico mais comum dentre as alterações degenerativas da coluna lombar (acomete 2 a 3 por cento 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.

Lumbar disc herniation is the most common diagnosis amongst the degenerative conditions of the lumbar spine (affecting around 2 to 3 percent of the population), and is the principal cause of spine surgery in 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 (from 4-6 weeks). Early treatment should be conservative, with pain management and physiotherapy, sometimes associated with selective nerve root block. Surgery should be considered if pain management is unsuccessful, if there is a motor deficit (strength grade 3 or less), where there is radicular pain associated with foraminal stenosis, or in the presence of cauda equina syndrome, the latter representing 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 in the long term.