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In Chile, between 450 and 500 cases of cancer are diagnosed annually in children and adolescents. Treatment is financed by the state, but there are non-financial elements that could condition adherence to treatment. OBJECTIVE: to explore family, socioeconomic, housing, and support network risk factors that could affect adherence to medical treatment in children and adolescents diagnosed with cancer. PATIENTS AND METHOD: Descriptive observational study in pediatric oncology hospitals of a national cancer program. Through a "Social Care Form" applied to 104 caregivers of children and adolescents, between August 2019 and March 2020, socioeconomic data of children diagnosed with cancer were recorded in four dimensions: i) Individual/family/health; ii) Work/education/socioeconomic; iii) Housing/environment; and iv) Participation/support networks. RESULTS: 99% of the children and adolescents were registered in the public health system; 69% belonged to the lowest income brackets. Care for children and adolescents was mainly provided by the mother (91%). 79% reported living in a house; 48% owned or were paying for their home. Housing quality was described as good (70%), with low levels of overcrowding. 56% of households had access to Wi-Fi internet connection, while 27% reported no access. The main support network reported was the family (84%). CONCLUSIONS: Family, socioeconomic, housing, and support network risk factors were observed in children and adolescents diagnosed with cancer; socioeconomic and gender aspects highlight the social inequalities in these families. Descriptive baseline results were obtained, so it is suggested to re-observe its evolution and thus measure its impact on adherence to treatment.
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Neoplasias , Cooperação e Adesão ao Tratamento , Humanos , Criança , Adolescente , Neoplasias/psicologia , Neoplasias/terapia , Fatores Socioeconômicos , Apoio Social , HabitaçãoRESUMO
INTRODUCTION: Eosinophilic angiocentric fibrosis (EAF) is a rare lesion that predominantly affects the upper respiratory tract. Its etiology is unknown and it has been recently associated with the IgG4- related disease (IgG4-RD) spectrum. To the author's knowledge, this is the sixth case report of the relationship between EAF and IgG4-RD. CASE REPORT: We report the case of a 37-year-old woman with nasal deformity and facial pain. The lesion was surgically excised. Histological examination revealed features of EAF with an IgG4/IgG plasma cell ratio â·73% and 31 IgG4 stained cells per high power field. No clinical or radiological recurrence was detected during follow-up. Serum IgG4 quantification one year after surgery was within normal limits. DISCUSSION: The relationship between both entities may have therapeutic impact because IgG4-RD of the head and neck has a high remission rate with corticosteroids and immunosuppressive therapy. Additional reports of this infrequent disease are necessary to elucidate appropriate treatment and prognosis.
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Eosinofilia/patologia , Fibrose/patologia , Doença Relacionada a Imunoglobulina G4/patologia , Doenças Nasais/patologia , Adulto , Feminino , HumanosRESUMO
INTRODUCTION: Beta-thalassemia (ß-thal) is frequent in Mexican patients with microcytosis and hypochromia. We report three novel mutations and analyze the actual mutational spectrum in Mexican population. METHODS: One hundred and forty-nine ß-thal Mexican mestizo patients were studied (154 alleles). ARMS-PCR was performed to identify Cd39C>T, IVS1:1G>A, IVS1:110G>A, -28A>C, initiation codonA>G and IVS1:5G>A mutations, and gap-PCR for δß-thal Spanish type. DNA sequencing of HBB gene was carried out in negative samples for the initial screening. RESULTS: Fifteen different HBB gene mutations were observed in 148 alleles; three of them are novel: -90C>G, 20 bp deletion (at codons 78/85), and IVS2:2T>G; the mutation IVS1:6T>C that was observed for first time in our population; and eleven previously described mutations. Six alleles showed normal HBB sequence. To date, a total of 21 different mutations have been observed in Mexican patients; the four most frequent mutations are of Mediterranean origin: Cd39C>T (37.2%), IVS1:1G>A (17.3%), IVS1:110G>A (13.9%), and δß-thal Spanish type (9.0%), which represent 77.4% of the total studied alleles. CONCLUSION: Considering the novel mutations -90C>G, -20 bp Cd78/85, IVS2:2T>G and the first observation of IVS1:6T>C, the molecular spectrum of ß-thal in Mexicans comprises 21 different mutations, confirming the high allelic heterogeneity in Mexicans.
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Alelos , Mutação , Globinas beta/genética , Talassemia beta/genética , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Códon , Análise Mutacional de DNA , Éxons , Feminino , Heterogeneidade Genética , Genótipo , Humanos , Lactente , Íntrons , Masculino , México , Pessoa de Meia-Idade , Análise de Sequência de DNA , Adulto JovemRESUMO
El periodo post operatorio a la cirugía cardiaca es complejo y la nutrición juega un rol fundamental dentro de los cuidados. Luego de una cirugía que requiere bypass cardiopulmonar, los neonatos experimentan una profunda respuesta metabólica al stress. Si esta respuesta ocurre sin un soporte nutricional adecuado, la malnutrición lleva a la pérdida de masa magra y al deterioro de la función de órganos vitales. Objetivo: Describir el estado nutricional y el aporte nutricional alcanzado en niños menores de 3 meses con cirugía cardiovascular durante la implementación de un programa de soporte nutricional intensivo evaluado al ingreso, al tercer y séptimo día post operatorio. Resultados: Se estudiaron 64 pacientes. Se logró la implementación de nutrición parenteral total (NPT) en todos los pacientes que ingresaron al protocolo y que requirieron nutrición parenteral. El promedio de volumen recibido en este periodo fue de 50 ml/kg/día (rango entre 25 y 80 ml/kg/día).Las evaluaciones al ingreso, a las 72 hs. y a la semana post operatoria mostraron que el 70%, 69%y 62,7% respectivamente de los pacientes no llegaron a las 67 kcal/kg/ día propuestas para la intervención nutricional para nuestro objetivos. Por el contrario se encontró que el aporte energético enteral y parenteral administrado en los 3 tiempos estudiados logró cubrir el 100% de los requerimientos metabólicos en reposo (REE) estimados por las fórmulas de Schofield y WHO con resultados similares sin diferencias significativas entre ambas. Conclusión: a pesar de no haber logrado cumplir con el objetivo nutricional calórico propuesto por nuestra intervención nutricional, el mismo logro cubrir el 100% del REE calculado por fórmulas (AU)
The postoperative period after heart surgery is complex and nutrition has a key role in the care process. After a surgery that requires cardiopulmonary bypass, neonates have a severe metabolic response to stress. If this response occurs without adequate nutritional support, malnourishment leads to loss of lean body mass and deterioration of vital organ function. Aim: To describe the nutritional status and nutritional support achieved in infants under 3 months of age who underwent cardiovascular surgery during the implementation of an intensive nutritional support program evaluated on admission and on the third and seventh day postoperatively. Results: Overall, 64 patients were studied. The implementation of total parenteral nutrition (TPN) was achieved in all patients that were included in the protocol and required parenteral nutrition. Median volume administered in this period was 50 ml/kg/day (range, from 25 and 80 ml/kg/day). Evaluation on admission, at 72 hs. and at 1 week postoperatively showed that 70%, 69%, and 62.7% of the patients, respectively, did not achieve the 67 kcal/kg/day proposed as the aim for the nutritional intervention. Conversely, it was found that enteral and parenteral energy delivery administered in the three time points was able to cover 100% of the resting energy expenditure (REE) calculated by the Schofield and WHO formalas with similar results without significant differences. Conclusion: Although the nutritional caloric aim a proposed by our nutritional intervention could not be reached, it was able to cover 100% of the REE calculated using the formulas (AU)
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Humanos , Recém-Nascido , Lactente , Nutrição Enteral , Cardiopatias Congênitas/cirurgia , Unidades de Terapia Intensiva Pediátrica , Necessidades Nutricionais , Apoio Nutricional , Nutrição Parenteral , Cuidados Pós-Operatórios , Estudos ProspectivosRESUMO
INTRODUCTION: Alpha-thalassemia (α-thal) is a common monogenic disorder worldwide. In mixed ethnic populations, α-thal and beta-thalassemia (ß-thal) can be expected, sometimes giving complex phenotypes, which without molecular analysis are not easily explained. We performed the molecular identification of α- and ß-thal alleles in 51 Mexican patients with microcytosis, hypochromia, and normal or low levels of HbA2 . METHODS: Common deletional alleles (-α(3.7) , -α(4.2) , - -(SEA) , - -(MED) , - -(FIL) , - -(THAI) , -α(20.5) ) and α-triplication were studied by gap-PCR and nondeletional alleles (α(IVSI) ((-5nt)) , α2 (NcoI) , α1 (NcoI) ) by ARMS. ß-thal alleles Cd39 (C>T), IVS1:1 (G>A), IVS1:110 (G>A), and Spanish δß-thal were also investigated. DNA sequencing was performed on HBA2, HBA1, and HBB genes. Negative samples were subjected to MLPA. RESULTS: In 35 subjects, we identified the mutations, -α(3.7) , - -(SEA) , - -(FIL) , α(IVSI) ((-5nt)) , and ααα(anti3.7) and two novel deletion alleles - -(Mex1) (6.8-8.9 kb) and - -(Mex2) (77.6-135.7 kb). Four individuals also had a ß-thal allele (Cd39/IVS1:110). No α-thal alleles were observed in 16 subjects, but three had a ß-thal mutation Cd39, IVS1:110, and Spanish δß-thal. CONCLUSION: α-thal is relatively common in Mexican patients, the combination with ß-thal is sometimes unexpected, and this underlines the importance of performing molecular analysis for both α- and ß-genes defects in patients showing microcytic hypochromic anemia.
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Alelos , Anemia Hipocrômica/genética , Sequência de Bases , Hemoglobinas Glicadas/genética , Hemoglobinas Anormais/genética , Deleção de Sequência , Talassemia alfa/genética , Talassemia beta/genética , Feminino , Humanos , Masculino , MéxicoRESUMO
Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase activity that plays an important role in multiple cellular functions. EGFR overexpression has been observed in several types of tumors and it is significantly associated with disease stage, survival, prognosis, and progression of cancer. The polymorphisms -216G>T, -191C>A, and (CA)n first intervening sequence (IVS1) have been related to EGFR overexpression and have been studied in several types of cancer, but not in gastric cancer (GC). The aim of this study was to determine the association of these 3 polymorphisms and GC. Genomic DNA from 68 GC patients and 102 healthy blood donors were analyzed. Polymorphisms were identified by DNA-sequencing (-216G>T and -191C>A) and GeneScan (CA)n IVS1. The results showed that the distribution of the -216G>T and -191C>A genotypes differed between groups (P < 0.05). The odds ratio for the -216TT genotype was 4.59 (95% confidence interval = 1.55-13.54, P < 0.05) and 10.71 (95% confidence interval = 2.31-49.59, P < 0.05) for the -191AA genotype, both in a recessive model. The genotype and allele distributions of the (CA)n IVS1 repeat was similar in both groups. In conclusion, the -216TT and -191AA genotypes and GA haplotype of the EGFR gene were found to be associated with an increased risk of gastric cancer in a Mexican population.
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Receptores ErbB/genética , Polimorfismo de Nucleotídeo Único , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Feminino , Frequência do Gene , Genótipo , Humanos , Íntrons , Masculino , México , Pessoa de Meia-Idade , Prognóstico , Fatores de RiscoRESUMO
OBJECTIVE: The purpose of this study was to determine the ß-globin cluster haplotype variability of two Mexican indigenous groups-Purepechas (PUR) and Tarahumaras (TAR)-and their relationship with other world populations. METHODS: The 5' and 3' haplotypes (Hp) of the ß globin cluster in 71 PUR and 53 TAR individuals were analyzed. Five polymorphisms in the 5'Hp (ε, (G) γ, (A) γ, 5'ψß and 3'ψß) and five in the 3'Hp (IVS2: 16, 46, 74, 81 and 3' end +339) were identified by restriction enzymes and direct DNA sequencing. 5'Hp and 3'Hp frequencies in PUR and TAR were compared with reported frequencies from 47 and 10 worldwide populations, respectively. RESULTS: Sixteen different 5'Hps were observed in the indigenous Mexican groups, 11 in each population, with the most common being 5'Hp 1. Eight 3'Hps were detected, seven in PUR and six in TAR, the most frequent being 3'Hp C. Three new 3'Hps were found, A8 (CTGCT) in both populations, C9 (GTGCA) in TAR and E1 (GTTCT) in PUR. The comparative analysis showed that 5'Hp frequencies in PUR were significantly different than those in all populations except the Brazilian-Guarani, while TAR were significantly similar to Aché and North Han Chinese. 3'Hp frequencies were similar between PUR and TAR, as well as with Nuu-Chah-Nulth, Mongolian and Sumatran populations. CONCLUSIONS: The 5'Hp analysis showed great variability in worldwide populations, including PUR and TAR, while 3'Hp frequencies were similar among indigenous Mexican and other populations with Asiatic origins. This suggests that 5'Hp exposes the microevolutionary process of each population and the 3'Hp establishes genetic relationships among populations.
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Frequência do Gene , Polimorfismo Genético , Globinas beta/genética , Haplótipos , Humanos , México , Globinas beta/metabolismoRESUMO
Two individuals with bilateral Madelung's deformity were identified in a Late Intermediate period comingled tomb at the northern highland site of Marcajirca, Ancash, Peru (ca. AD 1250). Comparisons of the size and robusticity of the radii and ulnae suggest the individuals represent a male and a female. The difference in the severity of the changes is thought to represent variability in the expression of the deformity seen in males and females in clinical cases. Three comparatively short, thick tibiae were also recovered from this tomb, which may suggest that the individuals demonstrate Léri-Weill dyschondrosteosis, a type of dwarfism characterized by mesomelic shortening. These are the first examples of Madelung's deformity to be described from an archaeological context in South America and offer an insight into the use of tombs (chullpas) in Late Intermediate period Ancash.
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We investigated associations between vitamin D receptor (VDR) gene polymorphisms, FokI T>C (rs2228570), BsmI G>A (rs1544410), ApaI G>T (rs7975232), and TaqI T>C (rs731236), with bone mineral density (BMD) in postmenopausal Mexican-Mestizo women. Three hundred and twenty postmenopausal women participated, who were classified according to World Health Organization criteria as non-osteoporotic (Non-OP; N = 88), osteopenic (Opn; N = 144), and osteoporotic (OP; N = 88). BMD measurements at the lumbar (L1-L4) spine and at the left and right femoral neck were obtained by dual-energy X-ray absorptiometry. Single nucleotide polymorphisms (SNPs) were genotyped using real-time polymerase chain reaction and TaqMan probes. Genotype and allelic frequencies of the 4 VDR SNPs were similar among the 3 groups. Polymorphic allele frequencies were as follows: FokI (C) 0.53, 0.49, 0.56; BsmI (A) 0.26, 0.22, 0.23; ApaI (T) 0.43, 0.39, 0.44; TaqI (C) 0.27, 0.22, 0.23 for the Non-OP, Opn, and OP groups, respectively. Although no associations were found between the SNPs and BMD, based on the putative function of the FokI SNP, we constructed, for the first time, the haplotype with the 4 VDR SNPs, and found that the CGGT haplotype differed between the Non- OP and OP groups (21.8 vs 31.8%, P < 0.05). The risk analysis for this haplotype was nearly significant under the dominant model (OR = 1.783, 95%CI = 0.98-3.25, P = 0.058). This result suggests a possible susceptibility effect of the C allele of the FokI SNP for the development of osteoporosis in postmenopausal Mexican-Mestizo women.
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Densidade Óssea/genética , Osteoporose/genética , Polimorfismo de Nucleotídeo Único , Receptores de Calcitriol/genética , Idoso , Estudos de Casos e Controles , Feminino , Frequência do Gene , Estudos de Associação Genética , Haplótipos , Humanos , Indígenas Norte-Americanos/genética , México , Pessoa de Meia-Idade , Osteoporose/diagnóstico por imagem , RadiografiaRESUMO
Gilbert syndrome (GS) is a hereditary relatively common benign unconjugated hyperbilirubinaemia. The promoter region of uridine diphosphate glycosyltransferase 1 (UGT1A1) gene contains a normal A (TA)6TAA element; variations in this motif (A(TA)7/8TAA) are generally associated with this disorder This is a report of the varied effects of GS in a Mexican Mestizo family with a non-common (TA)8 repeat in this population. The proposita and her mother showed (TA)7/(TA)8 genotype, while her father and sister were (TA)6/(TA)7, but only the proposita showed clinical manifestations. This report supports that the (TA)7 and (TA)8 are necessary, but not enough to explain the features of GS. There are probably additional genetic variations ie, the presence of "modifier" genes or one can speculate that an oligogenetic trait can contribute to the expression of the final phenotype.