Métodos: Se evaluó caries dental en 85 sujetos con labio y paladar hendido entre 2 y 25 años de edad, usando criterios del ICDAS y registrando adicionalmente superficies obturadas o perdidas por ...caries. Resultados: Todos los participantes presentaron ≥ 1 lesiones de caries (ICDAS) en dentición primaria y ≥ 5 en mixta y permanente. La media de ceo-s/COP en los tres grupos siguió patrones similares, aun cuando aumentó sustancialmente al adicionar lesiones no cavitadas. Los dientes más afectados fueron: en dentición primaria, el segundo molar temporal inferior izquierdo; en dentición mixta, el primer molar permanente inferior izquierdo, y en dentición permanente, el segundo molar inferior izquierdo. Los dientes anterosuperiores más afectados fueron: en dentición primaria, el incisivo lateral superior derecho (cuarto lugar); en mixta, el incisivo superior izquierdo (tercer lugar), y en permanente, el canino superior derecho (cuarto lugar). Conclusiones: Los resultados muestran una alta experiencia de caries en esta población. A diferencia de lo esperado, los dientes anterosuperiores no fueron los más afectados y la distribución de la caries siguió un patrón natural. Methods: Caries status was assessed in 85 2-to-25-year-old subjects with cleft lip palate using ICDAS-visual criteria and scoring filled/missing due-to-caries surfaces. Results: All participants had ≥1 caries lesions (ICDAS-criteria) in the primary dentition and ≥5 in the mixed and permanent dentition. The mean dmf-s/DMF-S was very similar in the three groups with significantly higher values when non cavitated lesions were added. The most affected teeth with caries lesions were, in primary dentition, the second lower-left-primary molar; the first lower left permanent molar in mixed dentition; and the second lower left permanent molar in permanent dentition. Regarding the anterior upper teeth, in the primary dentition group, the lateral right upper incisor was the fourth most affected; in the mixed dentition group the left central upper incisor was the third; and in the permanent dentition group the right upper canine was the fourth most affected. Conclusions: The results showed a high caries experience, with an apparently natural teeth distribution, not being the anterior upper teeth the most affected, as one could expect.
Purpose: To compare the state of bone maturation in a Colombian population with and without cleft lip palate (CLP), using cervical vertebral maturation (CVM) analysis. Methods: A previously ...calibrated examiner (kappa = 0.76) evaluated the CVM of 145 7-to-18-year-old individuals with and without CLP through lateral radiographs. 73 patients had CLP and 72 did not have the condition. Descriptive and inferential (chi2) statistical analyses were performed to the data (alpha = 0.05). Results: The 7-to-9-year-old group had the highest percentage of cervical vertebras in stage CS1 and none in stages CS5 and CS6. Patients in the group of 10-12 years of age showed the highest frequency in stage CS4 and none in CS6. The 13-15 year olds had the highest proportion in CS4. Among the 16-to-18-year-old patients, the highest percentage was found in stage CS5. When comparing the cervical vertebral development between the two groups, there were no significant differences (p = 0.8). Conclusion: The state of bone maturation in individuals with and without CLP showed similar results when analyzed regarding CVM in lateral radiographies. There was no evidence of earlier maturation in the 7-to-9-year-old patients. The highest level of growth was shown at ages 10-15 (CS3, CS4).
Background: The presence of two or more craniofacial abnormalities may be associated with developmental syndromes and/or genetic defects. Identifying minor and major anomalies helps early detection, ...referrals to a specialist, and diagnosis of malformations of congenital origin. Purpose: To design, test, and validate an instrument to detect minor and major clinical craniofacial anomalies that may be associated with congenital conditions. Methods: A descriptive pilot study was carried out with a sample of 34 5-to-17-year-old schoolchildren (21 girls and 13 boys). Photographs and craniofacial anthropometric measurements were taken and variables were analyzed descriptively. Results: Findings showed one schoolchild with major abnormality (cleft lip and palate) macrocephaly (35%), microcephaly (17%), mesoprosopic (8.82%), euryprosopic (5.88%), leptoprosopic (85.29%), hair distribution abnormalities (67%), facial asymmetries (76%), narrow forehead (44%), metopic depression (one child), eye abnormalities such as epicanthal folds (26%), nose abnormalities (11%), ear abnormalities (64%), preauricular appendix (one child), mo and data analysisfrequency anduth abnormalities (35%), and tooth anomalies (58%). Conclusion: The instrument of this study was designed for massive application in communities and should be complemented with genotype analysis in cases with two or more minor abnormalities or other relevant findings.
Objective: Describe quality-of-life perception regarding oral health in a group of Colombian
schoolchildren with cleft lip and/or palate (CLP). Methods: A cross-sectional study with 71
students (age ...range 8-18 years old, mean 12.5 years, SD ± 3.21) and 53 parents/caregivers
was conducted. After obtaining signed informed consent, a Spanish version of the Child Oral
Health Related Quality of Life Questionnaire COHQoL 8-10 and COHQoL-parents (validated
in Canadian population) was used. Presence of dental cavities, orthodontic appliances, residual
fistulas, soft tissue lesions and missed teeth were reviewed through clinical inspection.
Data were organized in an Excel Microsoft Office® database and analyzed descriptively
through the EPI-INFO-2000. Results: 66.2% of schoolchildren had unilateral CLP and 33.8%
had bilateral CLP. 58% were in the period of mixed dentition and 42.3% had permanent
dentition. 93% had orthodontic appliances and missing teeth, 59.2% residual fistulas,
14.1% dental cavities, and 11.3% soft tissue lesions. Regarding the oral health perception,
76% interviewees thought they had good/very good oral health status; 56.3% was never
bothered with dental issues. In general, parents thought their children s oral health was
good. Conclusion: Children and parents general perception of their quality of life regarding
oral health status, according to the questionnaire used, was positive. No inferential statistical
analysis was carried out. Regarding the data collection method used, it is necessary
to develop a more specific instrument for CLP, in order to understand the impact of this
condition in peoples wellbeing.
Objetivo: describir la percepción de calidad de vida relacionada con salud oral en un grupo
de población colombiana escolar con labio y/o paladar fisurado (LPF). Métodos: se
realizó un estudio descriptivo transversal en 71 escolares y 53 padres/acudientes (rango
de edad: 8-18 años, promedio: 12,5 años, DE: ± 3,21). Previa firma de consentimiento
informado, se aplicaron los cuestionarios COHQoL 8-10 y COHQoL-padres, validados en
población canadiense, y traducidos al español para escolares colombianos. Clínicamente,
se evaluó la presencia/ausencia de caries cavitacional, aparatología de tipo ortodóntico,
fístulas residuales, lesiones de tejidos blandos y ausencias dentales. La información se
organizó en una base de datos en Excel Microsoft Office® y se analizó descriptivamente
con EPI-INFO-2000. Resultados: el 66,2% de los escolares presentaba fisura unilateral, y
el 33,8%, fisura bilateral. El 58% exhibía dentición mixta, y el 42,3% dentición permanente.
El 93% tenía aparatología y ausencias dentales; el 59,2%, fístulas residuales; el 14,1%,
caries cavitacional, y el 11,3%, lesiones de tejidos blandos. Respecto a la percepción de
su salud oral, el 76% de los encuestados creía que estaba bien/muy bien; el 56,3% nunca
se sintió molesto a causa de sus dientes. En general, los padres calificaron la salud oral de
sus hijos como buena. Conclusión: la percepción general de la calidad de vida del grupo
estudiado, en relación con la salud oral y según el instrumento aplicado, reportada por los
niños y padres, fue positiva. No se exploraron asociaciones estadísticas. Respecto al método
de recolección empleado, es necesario desarrollar un instrumento específico para LPH que
permita entender el impacto de esta condición en el bienestar de las personas
ABSTRACT
Background
Genetic causes are increasingly recognized in patients with focal segmental glomerulosclerosis (FSGS), but it remains unclear which patients should undergo genetic study. Our ...objective was to determine the frequency and distribution of genetic variants in steroid-resistant nephrotic syndrome FSGS (SRNS-FSGS) and in FSGS of undetermined cause (FSGS-UC).
Methods
We performed targeted exome sequencing of 84 genes associated with glomerulopathy in patients with adult-onset SRNS-FSGS or FSGS-UC after ruling out secondary causes.
Results
Seventy-six patients met the study criteria; 24 presented with SRNS-FSGS and 52 with FSGS-UC. We detected FSGS-related disease-causing variants in 27/76 patients (35.5%). There were no differences between genetic and non-genetic causes in age, proteinuria, glomerular filtration rate, serum albumin, body mass index, hypertension, diabetes or family history. Hematuria was more prevalent among patients with genetic causes. We found 19 pathogenic variants in COL4A3–5 genes in 16 (29.3%) patients. NPHS2 mutations were identified in 6 (16.2%) patients. The remaining cases had variants affecting INF2, OCRL, ACTN4 genes or APOL1 high-risk alleles. FSGS-related genetic variants were more common in SRNS-FSGS than in FSGS-UC (41.7% vs 32.7%). Four SRNS-FSGS patients presented with NPHS2 disease-causing variants. COL4A variants were the most prevalent finding in FSGS-UC patients, with 12 patients carrying disease-causing variants in these genes.
Conclusions
FSGS-related variants were detected in a substantial number of patients with SRNS-FSGS or FSGS-UC, regardless of age of onset of disease or the patient's family history. In our experience, genetic testing should be performed in routine clinical practice for the diagnosis of this group of patients.
Lay Summary
Prevalence of genetic causes in patients with a histological diagnosis of focal segmental glomerulosclerosis (FSGS) is probably underestimated due to the diagnostic challenges in its diagnosis. The criteria for genetic testing in adult patients with FSGS remains unclear. In this study, we found that there is a high prevalence of genetic forms in FSGS with steroid-resistant nephrotic syndrome (41.7%) and FSGS of undetermined cause (32.7%). The most common genetic variants in adult-onset FSGS steroid-resistant nephrotic syndrome were NPHS2 gene mutations, whereas in FSGS of undetermined cause the most frequent genetic mutations were in COL4A genes. The age of onset of disease and the presence of a positive family history did not discriminate between genetic and non-genetic forms of FSGS. In conclusion, genetic testing should be performed in patients with FSGS and steroid-resistant nephrotic syndrome or FSGS of undetermined cause, regardless of the age of onset or family history of kidney disease.
Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation ...(NBIA). Ten NBIA genes are accepted, although isolated cases compatible with abnormal brain iron deposits are known. The patients were evaluated using standardised clinical assessments of ataxia and MDs. First, NBIA genes were analysed by Sanger sequencing and 59 patients achieved a diagnosis, including the detection of the founder mutation PANK2 p.T528M in Romani people. Then, we used a custom panel MovDisord and/or exome sequencing; 29 cases were solved with a great genetic heterogeneity (34 different mutations in 23 genes). Three patients presented brain iron deposits with Fe-sensitive MRI sequences and mutations in FBXO7, GLB1, and KIF1A, suggesting an NBIA-like phenotype. Eleven patients showed very early-onset ataxia and CA with cortical hyperintensities caused by mutations in ITPR1, KIF1A, SPTBN2, PLA2G6, PMPCA, and PRDX3. The novel variants were investigated by structural modelling, luciferase analysis, transcript/minigenes studies, or immunofluorescence assays. Our findings expand the phenotypes and the genetics of MDs and ataxias with early-onset CA and cortical hyperintensities and highlight that the abnormal brain iron accumulation or early cerebellar gliosis may resembling an NBIA phenotype.
CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and ...sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America.
CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained.
Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients.
The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.
Background
The Spanish Melanoma Group (GEM) developed a national registry of patients with melanoma infected by SARS-CoV-2 (“GRAVID”).
Methods
The main objective was to describe the COVID-19 fatality ...rate in patients with melanoma throughout the pandemic, as well as to explore the effect of melanoma treatment and tumor stage on the risk of COVID-19 complications. These are the final data of the register, including cases from February 2020 to September 2021.
Results
One hundred-fifty cases were registered. Median age was 68 years (range 6–95), 61 (40%) patients were females, and 63 (42%) patients had stage IV. Thirty-nine (26%) were on treatment with immunotherapy, and 17 (11%) with BRAF-MEK inhibitors. COVID-19 was resolved in 119 cases, including 85 (57%) patients cured, 15 (10%) that died due to melanoma, and 20 (13%) that died due to COVID-19. Only age over 60 years, cardiovascular disorders, and diabetes mellitus increased the risk of death due to COVID-19, but not advanced melanoma stage nor melanoma systemic therapies. Three waves have been covered by the register: February–May 2020, August–November 2020, and December 2020–April 2021. The first wave had the highest number of registered cases and COVID-19 mortality.
Conclusion
Tumor stage or melanoma treatments are non-significant prognostic factors for COVID-19 mortality. During the pandemic in Spain there was a downward trend in the number of patients registered across the waves, as well as in the severity of the infection.
Clinicaltrials.gov identifier
NCT04344002.
ABSTRACT The objective of this study was to establish the concentration of fluoride in kitchen salt obtained directly from consumers in four Colombian cities. Through visits to households, 240 ...samples of kitchen salt were collected (125 mg minimum per sample) from high and low socio-economic families in the cities of Bogota, Cartagena, Manizales and Medellin. Fluoride concentration was determined by means of the specific ion electrode method. The average fluoride concentration for all samples was 164 +- 62.7 mg/kg (ppm). In Bogota the concentration was 176 +- 49.8 ppm while in Medellin, Manizales and Cartagena it was 172 +- 74.8, 184 +- 47.4 and 131 +- 72.4 ppm respectively. In the low socio-economic group the average concentration was 157 +- 65.5 ppm while in the high socio-economic group it was 171 +- 58.3 ppm. 60.5% of the analyzed samples had a fluoride concentration lower than 180 ppm, 25.5% of them had concentrations which were within the normalized ranges (180-220 ppm) and 14% presented values greater than 220 ppm. More than 50% of the analyzed samples did not comply with the fluoride concentration norm for kitchen salt. More control and supervision of the National Fluoridation Salt Program is required in order to comply with its objectives.
El propósito del estudio fue determinar la concentración de flúor en sal de cocina obtenida directamente de los consumidores en cuatro ciudades colombianas. Mediante visita a la residencia se recogieron 240 muestras de sal de cocina (125 g como cantidad mínima) a familias de estrato alto y bajo de las ciudades de Bogotá, Cartagena, Manizales y Medellín. La concentración de flúor en la sal se determinó mediante el método del electrodo de ión específico. La concentración promedio de flúor para todas las muestras de sal fue de 164:1: 62.7 mg/Kg (ppm). En Bogotá la concentración fue de 176:1:49.8 ppm, en Medellín, Manizales y Cartagena fue de 172:1:74.8, 184:1:47.4 Y 131:1:72.4 ppm respectivamente. En el estrato bajo la concentración promedio fue de 157:1:65.5 ppm y de 171:1:58.3 ppm en el estrato alto. El 60.5% de las muestras analizadas tenía una concentración de flúor inferior a 180 ppm, el 25.5% de las muestras tenía concentraciones dentro del rango normatizado (180-220 ppm) y el 14% arrojó valores superiores a 220 ppm. Más de la mitad de las muestras analizadas incumplían la norma de concentra¬ción de flúor en sal. Se requiere mayor vigilancia y control sobre el Programa Nacional de Fluoruración de la Sal de Cocina con el fin de garantizar que se cumplan sus objetivos
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