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J. Health Biol. Sci. (Online) ; 10(1): 1-4, 01/jan./2022. ilus
Article in Portuguese | LILACS | ID: biblio-1368288


Introdução: Osteogênese Imperfeita (OI) é uma doença genética rara com fragilidade óssea. A classificação inclui muitos tipos. Além do risco de recorrência, o manejo pode variar com o tipo de OI. Relato do caso: Apresentamos um paciente do sexo masculino nascido com 39 semanas, de pais não consanguíneos e saudáveis. A hidrocefalia foi diagnosticada no pré-natal. Com 50 dias de vida, detectamos muitas fraturas e calos ósseos. O teste molecular identificou uma deleção em homozigose do éxon 4 do gene WNT1. Considerações finais: Concluímos que o caso apresentado tinha características clínicas de OI XV, e o teste molecular foi fundamental para o diagnóstico preciso e aconselhamento genético.

Introduction: Osteogenesis Imperfecta (OI) is a rare genetic disease with bone fragility. The classification includes many types. In addition, the risk of a recurrence, the management can vary with the kind of OI. Case report: We report a male patient born at 39 weeks from non-consanguineous healthy parents. The patient was diagnosed with Hydrocephalus at prenatal. At 50 days of life, we detected many fractures and bone calluses. The molecular test identified a homozygous deletion of exon 4 of the WNT1 gene. Final considerations: We conclude this case had clinical features of OI XV, and the molecular test was fundamental for the precise diagnosis and the genetic counseling.

Osteogenesis Imperfecta , Osteogenesis , Patients , Prenatal Care , Sex , Infant, Premature , Fractures, Bone , Genetic Counseling , Genetics , Genetic Diseases, Inborn , Hydrocephalus , Men
Article in Chinese | WPRIM | ID: wpr-928385


OBJECTIVE@#To explore the genetic basis for a Chinese pedigree with two individuals suffering from congenital blindness.@*METHODS@#Clinical data and peripheral blood samples of the pedigree were collected. Whole exome sequencing was carried out. Suspected variants were verified by Sanger sequencing. Pathogenicity of candidate variants was validated through searching of PubMed and related databases, and analyzed with bioinformatics software.@*RESULTS@#Both patients had congenital blindness and a history of multiple fractures. Other features have included microphthalmia and cornea opacity. One patient had normal intelligence, whilst the other had a language deficit. Both patients were found to harbor compound heterozygous variants of the LRP5 gene, namely c.1007_1015delGTAAGGCAG (p.C336X), c.4400G>A (p.R1467Q) and c.4600C>T (p.R1534X). The first one was derived from their mother, whilst the latter two were derived from their father. None of the three variants was detected in their elder sister.@*CONCLUSION@#The compound heterozygous variants of c.1007_1015delGTAAGGCAG (p.C336X) and c.4600C>T (p.R1534X) of the LRP5 gene probably underlay the pathogenesis of the Osteoporosis-pseudoglioma syndrome in this pedigree. The clinical significance of the c.4400G>A (p.R1467Q) variant has remained uncertain. Above finding has enriched the mutational spectrum of Osteoporosis-pseudoglioma syndrome.

Aged , China , Humans , Language , Low Density Lipoprotein Receptor-Related Protein-5/genetics , Mutation , Osteogenesis Imperfecta/genetics , Pedigree
Article in Chinese | WPRIM | ID: wpr-928353


OBJECTIVE@#To identify the pathogenic variant for a husband with osteogenesis imperfecta and provide preimplantation genetic testing (PGT) for the couple.@*METHODS@#High-throughput sequencing and Sanger sequencing were carried out to identify the pathologic variant in the husband patients. PGT of embryos was performed through direct detection of the mutation site. Meanwhile, chromosome aneuploidy of the blastocysts was screened. Following transplantation, cytogenetic and genetic testing of fetal amniotic fluid sample was carried out during mid-pregnancy. Chromosome copy number variant (CNV) was detected at multiple sites of the placenta after delivery.@*RESULTS@#The husband was found to harbor heterozygous c.544-2A>G variant of the COL1A1 gene. The same variant was not detected in either of his parents. PGT revealed that out of three embryos of the couple, one was wild-type for the c.544-2A site but mosaicism for duplication of 16p13.3.11.2. The other two embryos were both heterozygous for the c.544-2A>G variant. Following adequate genetic counseling, the wild-type embryo was transplanted. Amniotic fluid testing confirmed that the fetus had normal chromosomes and did not carry the c.544-2A>G variant. The copy number of chromosomes at different parts of placenta was normal after birth.@*CONCLUSION@#For couples affected with monogenic disorders, e.g., osteogenesis imperfecta, direct detection of the mutation site may be used for PGT after identifying the pathogenic variant. After adequate genetic counseling, prenatal diagnosis must be carried out to ensure the result.

Aneuploidy , China , Female , Genetic Testing , Humans , Osteogenesis Imperfecta/genetics , Pregnancy , Preimplantation Diagnosis
Arch. endocrinol. metab. (Online) ; 65(4): 500-504, July-Aug. 2021. graf
Article in English | LILACS | ID: biblio-1339102


SUMMARY The occurrence of fractures in young individuals is frequently overlooked by physicians, especially when associated with exercise or trauma. Nevertheless, multiple fractures should always be investigated since underlying conditions can predispose to such events. We describe here the case of a young, healthy woman who sustained multiple fractures in the lower limbs, which were initially considered to be "stress fractures". Further investigation, including a panel of genes associated with osteogenesis imperfecta, revealed that the patient is a heterozygous carrier of a SERPINF1 variant. According to criteria recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, this variant is classified as likely benign (PM2, PP3, PP4, BP1, and BP4). The patient's mother and brother were also asymptomatic carriers of the variant and had sustained previous minor fractures. The patient had normal biochemical profile and bone density. This condition has been rarely described and is not associated with low bone mineral density or altered bone turnover markers. This case highlights the importance of investigating multiple fractures in young patients who are otherwise healthy since these may be a warning sign of rare genetic conditions associated with fragility fractures.

Humans , Male , Female , Osteogenesis Imperfecta/genetics , Fractures, Stress/genetics , Fractures, Stress/diagnostic imaging , Bone Density/genetics , Genetic Predisposition to Disease/genetics
J. pediatr. (Rio J.) ; 97(3): 315-320, May-June 2021. tab, graf
Article in English | LILACS | ID: biblio-1279318


Abstract Objective To describe postural balance, handgrip strength and mobility in children and adolescents with different types of osteogenesis imperfecta. Methods Cross-sectional study. Fifty selected subjects diagnosed with types I (n = 11), III (n = 21), and IV (n = 18), followed up at Brazilian reference center for osteogenesis imperfecta in the Midwest region, aged 2-21 years (9.2 ± 5.0), were enrolled in this study. Children and adolescents were evaluated for postural balance in the upright position with eyes-open and eyes-closed conditions, handgrip strength and the mobility domain (Pediatric Dysfunction Assessment Inventory). Data normality and difference between groups was verified. Results Handgrip strength was significantly lower in people with type III of osteogenesis imperfecta when compared to the osteogenesis imperfecta types I and IV, and to the age-specific reference data. Center of pressure length and mean velocity in the condition with eyes closed were worse compared to the open-eyes condition for children and adolescents with type I of osteogenesis imperfecta. There were worse results in the mobility domain for the participants classified with the most severe type of osteogenesis imperfecta. Conclusions It was observed that the severity of the osteogenesis imperfecta disease affected handgrip strength and locomotor function assessed by the mobility domain. Comparing osteogenesis imperfecta types, the higher the severity of osteogenesis imperfecta, the lower the handgrip strength. These results can contribute to new strategies of treatment focused on improving functional capacity and quality of life in people with osteogenesis imperfecta.

Humans , Child, Preschool , Child , Adolescent , Adult , Young Adult , Osteogenesis Imperfecta , Quality of Life , Brazil , Cross-Sectional Studies , Hand Strength , Postural Balance
Article in Chinese | WPRIM | ID: wpr-921999


OBJECTIVE@#To carry out preimplantation genetic testing (PGT) for a couple where the husband was affected by osteogenesis imperfecta combined with balanced translocation using the karyomapping technique.@*METHODS@#Blastocysts were detected using karyomapping, the carrier status of COL1A1 c.760G>A (p.Gly254Arg) variant and the carrier status of the translocated chromosome were analyzed simultaneously.@*RESULTS@#For a total of 10 blastocysts, two euploid blastocysts were found to not carry the COL1A1 c.760G>A (p.Gly254Arg) variant but a balanced translocation. After transplanting one of the blastocysts, clinical pregnancy was achieved. Amniocentesis at 18th gestational week and prenatal genetic testing was in keeping with the result of PGT.A healthy female was born at 40+4 weeks gestation.@*CONCLUSION@#For patients simultaneously carrying genetic variant and balanced chromosomal translocation, PGT can be performed with efficiency by the use of karyomapping method.

Blastocyst , Female , Fertilization in Vitro , Genetic Testing , Humans , Osteogenesis Imperfecta/genetics , Pregnancy , Preimplantation Diagnosis , Spouses , Translocation, Genetic
J. pediatr. (Rio J.) ; 96(4): 472-478, July-Aug. 2020. tab
Article in English | LILACS, ColecionaSUS, SES-SP | ID: biblio-1135043


Abstract Objective: To estimate the prevalence and presentation of bladder, bowel, and combined bladder and bowel symptoms experienced by children with osteogenesis imperfecta and to describe the socio-demographic and clinical profile of these children. Method: A descriptive study was conducted with a convenience sample of parent-child pairs of toilet-trained children aged from 3 to 18 years. Pairs were interviewed using three tools: (1) Socio-Demographic and Clinical Questionnaire; (2) Dysfunctional Voiding Scoring System; (3) Rome III Criteria along with the Bristol Stool Scale. Data were stratified by socio-demographic and clinical variables and analyzed using descriptive statistics. Results: Thirty-one parent-child pairs participated in the study; 38.7% (n = 12) children reported bowel symptoms, 19.4% (n = 6) reported a combination of bladder issues (such as holding maneuvers and urgency) and bowel symptoms (such as hard or painful bowel movements and large diameter stools). There were no reports of isolated bladder issues. Among the child participants, 16 (51.7%) identified as female and 20 (64.5%) were 5-14 years old. The most prevalent type of osteogenesis imperfecta was type III (n = 12; 38.7%) and eight (25.8%) children reported using a wheelchair. Conclusion: This is the first study to examine the prevalence and presentation of bladder, bowel, and combined bladder and bowel symptoms in children with osteogenesis imperfecta, offering a preliminary socio-demographic and clinical profile of these children. This research is an important step toward effective screening, detection, and access to care and treatment, especially for clinicians working with this group of very fragile patients.

Resumo Objetivo: Estimar a prevalência e a apresentação de sintomas urinários, intestinais e urinários e intestinais combinados sofridos por crianças com osteogênese imperfeita e descrever o perfil sociodemográfico e clínico dessas crianças. Método: Foi realizado um estudo descritivo com uma amostra de conveniência de pares de pais-filhos de crianças treinadas para usar o banheiro com idades entre três e 18 anos. Os pares foram entrevistados utilizando três instrumentos: 1) o Questionário Sociodemográfico e Clínico; 2) o questionário Dysfunctional Voiding Scoring System; 3) os Critérios de Roma III juntamente com a Escala de Bristol para Consistência de Fezes. Os dados foram estratificados por variáveis sociodemográficas e clínicas e analisados com estatísticas descritivas. Resultados: Participaram do estudo 31 pares de pais-filhos, 38,7% (n = 12) crianças relataram sintomas intestinais, 19,4% (n = 6) relataram uma combinação de problemas urinários (como segurar e urgência miccional) e sintomas intestinais (como fezes duras ou evacuações dolorosas e fezes de grande dimensão). Não houve relatos de problemas urinários isolados. Entre as crianças, 16 (51,7%) eram meninas e 20 (64,5%) tinham entre 5 e 14 anos. O tipo mais prevalente de osteogênese imperfeita foi o III (n = 12; 38,7%) e 8 (25,8%) crianças relataram usar cadeira de rodas. Conclusão: Este é o primeiro estudo a examinar a prevalência e a apresentação de sintomas urinários, intestinais e urinários e intestinais combinados em crianças com osteogênese imperfeita e que mostra um perfil sociodemográfico e clínico preliminar dessas crianças. Nossa pesquisa é um passo importante com relação ao efetivo rastreamento, detecção e acesso ao cuidado e tratamento, principalmente para os profissionais de saúde que trabalham com esse grupo de pacientes tão frágeis.

Humans , Male , Female , Child, Preschool , Child , Adolescent , Osteogenesis Imperfecta/complications , Osteogenesis Imperfecta/diagnosis , Osteogenesis Imperfecta/epidemiology , Urinary Bladder , Prevalence , Surveys and Questionnaires , Constipation/etiology , Constipation/epidemiology
Actual. osteol ; 16(1): 47-66, Ene - abr. 2020. ilus
Article in Spanish | LILACS | ID: biblio-1140035


La "razón de ser" de nuestros huesos y esqueletos constituye un dilema centralizado en los conceptos biológicos de "estructura" y "organización", cuya solución necesitamos comprender para interpretar, diagnosticar, tratar y monitorear correctamente las osteopatías fragilizantes. Últimamente se ha reunido conocimiento suficiente para proponer aproximaciones razonables a ese objetivo. La que exponemos aquí requiere la aplicación de no menos de 6 criterios congruentes: 1) Un criterio cosmológico, que propone un origen común para todas las cosas; 2) Un criterio biológico, que explica el origen común de todos los huesos; 3) Un enfoque epistemológico, que desafía nuestra capacidad de comprensión del concepto concreto de estructura y del concepto abstracto de organización, focalizada en la noción rectora de direccionalidad espacial; 4) Una visión ecológica, que destaca la importancia del entorno mecánico de cada organismo para la adecuación de la calidad mecánica de sus huesos a las "funciones de sostén" que les adjudicamos; 5) Una correlación entre todo ese conocimiento y el necesario para optimizar nuestra aptitud para resolver los problemas clínicos implicados y 6) Una jerarquización del papel celular en el manejo de las interacciones genético-ambientales necesario para asimilar todo el problema a una simple cuestión de organización direccional de la estructura de cada hueso. Solo aplicando estos 6 criterios estaríamos en condiciones de responder a la incógnita planteada por el título. La conclusión de esta interpretación de la conducta y función de los huesos debería afectar el fundamento de la mayoría de las indicaciones farmacológicas destinadas al tratamiento de la fragilidad ósea. (AU)

The nature of the general behavior of our bones as weight-bearing structures is a matter of two biological concepts, namely, structure and organization, which are relevant to properly interpret, diagnose, treat, and monitor all boneweakening diseases. Different approaches can be proposed to trace the corresponding relationships. The one we present here involves six congruent criteria, namely, 1) a cosmological proposal of a common origin for everything; 2) a biological acknowledgement of a common origin for all bones; 3) the epistemological questioning of our understanding of the concrete concept of structure and the abstract notion of organization, focused on the lead idea of directionality; 4) the ecological insight that emphasizes the relevance of the mechanical environment of every organism to the naturally-selected adjustment of the mechanical properties of their mobile bones to act as struts or levers; 5) The clinical aspects of all the alluded associations; 6) The central role of bone cells to control the genetics/ environment interactions of any individual as needed to optimize the directionality of the structure of each of his/her bones to keep their mechanical ability within physiological limits. From our point of view, we could only solve the riddle posed by the title by addressing all of these six criteria. The striking conclusion of our analysis suggests that the structure (not the mass) of every bone would be controlled not only to take care of its mechanical ability, but also to cope with other properties which show a higher priority concerning natural selection. The matter would be that this interpretation of bone behavior and 'function' should affect the rationales for most pharmacological indications currently made to take care of bone fragility. (AU)

Humans , Bone and Bones/physiology , Bone Diseases, Metabolic/diagnosis , Osteogenesis Imperfecta/diagnosis , Osteogenesis Imperfecta/therapy , Osteoporosis/diagnosis , Osteoporosis/therapy , Bone and Bones/anatomy & histology , Bone and Bones/cytology , Bone and Bones/ultrastructure , Bone Diseases, Metabolic/therapy , Epigenesis, Genetic
Saúde Soc ; 29(2): e200094, 2020. graf
Article in English | LILACS, SES-SP | ID: biblio-1139533


Abstract Geographical variation on hip fractures (HF) may be related to the geographical variation of drinking water composition (DWC); minerals in drinking water may contribute to its fragility. We aim to investigate the effects of DWC on HF risk in Portugal (2000-2010). From National Hospital Discharge Register we selected admissions of patients aged ≥50 years, diagnosed with HF caused by low/moderate energy traumas. Water components and characteristics were selected at the municipality level. A spatial generalized additive model with a negative binomial distribution as a link function was used to estimate the association of HF with variations in DWC. There were 96,905HF (77.3% in women). The spatial pattern of HF risk was attenuated after being adjusted for water parameters. Results show an indirect association between calcium, magnesium, and iron and HF risk but no clear relation between aluminum, cadmium, fluoride, manganese, or color and HF risk. Regarding pH, the 6.7pH and 7pH interval seems to pose a lower risk. Different dose-response relationships were identified. The increase of calcium, magnesium, and iron values in DWC seems to reduce regional HF risk. Long-term exposure to water parameters, even within the regulatory limits, might increase the regional HF risk.

Resumo A variabilidade espacial existente na fratura do colo do fêmur (FCF) pode estar relacionada com a variabilidade geográfica da composição da água para consumo (CAC), devido à ação dos minerais na fragilidade óssea. O objetivo do artigo foi investigar o efeito da CAC no risco de FCF em Portugal (2000-2010). Do registo nacional de altas hospitalares, foram selecionadas todas as admissões em indivíduos ≥50, com diagnóstico de FCF causado por trauma de baixo/moderado impacto. Os componentes e características da água foram usados ao nível do município. Um modelo espacial aditivo generalizado, com a distribuição binomial negativa como função de ligação, foi usado para estimar a associação de FCF e as variações da CAC. Foram selecionadas 96.905 FCF (77,3% em mulheres). O padrão espacial de risco de FCF foi atenuado após ser ajustado pelos parâmetros da CAC. Os resultados mostraram uma associação indireta com cálcio, magnésio e ferro. No entanto, com alumínio, cádmio, fluoreto, manganês e cor, a associação com o risco não foi clara. O intervalo de pH de 6,7 a 7 parece apresentar um menor risco. Foram identificadas diferentes dose-resposta. O aumento do cálcio, magnésio e ferro na CAC parece reduzir o risco regional de FCF. Uma exposição a longo prazo, mesmo obedecendo aos limites impostos por lei, parece aumentar o risco regional de FCF.

Humans , Male , Female , Osteogenesis Imperfecta , Drinking Water , Water Quality , Femoral Fractures , Minerals
Article in English | WPRIM | ID: wpr-811266


Osteogenesis imperfecta is a heterogeneous group of connective tissue diseases that is predominantly characterized by bone fragility and skeletal deformity. Two siblings with undiagnosed type I osteogenesis imperfecta underwent orthognathic surgery for the treatment of facial asymmetry and mandibular prognathism. The authors report two cases of combined orthodontics and orthognathic surgery in patients with type I osteogenesis imperfecta, mandibular prognathism, and facial asymmetry.

Congenital Abnormalities , Connective Tissue Diseases , Facial Asymmetry , Humans , Orthodontics , Orthognathic Surgery , Osteogenesis Imperfecta , Osteogenesis , Prognathism , Siblings
Article in Chinese | WPRIM | ID: wpr-826544


OBJECTIVE@#To analyze the clinical phenotype of six pedigrees affected with osteogenesis imperfecta and their genetic basis.@*METHODS@#Peripheral blood or abortic tissues of the six pedigrees were collected for the extraction of genomic DNA. Next generation sequencing (NGS) was carried out to detect pathological variants in the genome. Sanger sequencing was used for validating suspected variant among the six pedigrees and 100 healthy controls.@*RESULTS@#In pedigree 1, the proband and his daughter both carried a heterozygous c.1976G>C variant of COL1A1. The probands in pedigrees 2 to 6 respectively carried heterozygous variants of c.2224G>A of COL1A2, c.2533G>A of COL1A1, c.2845G>A of COL1A2, c.2532_2540del of COL1A1, and c.1847G>A of COL1A2. The same variants were not detected in their parents and the 100 healthy controls.@*CONCLUSION@#Variants of COL1A1/2 gene probably underlie the pathogenesis for osteogenesis imperfecta in these pedigrees. Discovery of the nevol variants has enriched the spectrum of COL1A1/2 gene variants and facilitated genetic counseling and prenatal diagnosis for the affected pedigrees.

Collagen Type I , Genetics , Female , Genetic Variation , Genotype , Humans , Male , Mutation , Osteogenesis Imperfecta , Genetics , Pedigree , Phenotype , Pregnancy
Article in Chinese | WPRIM | ID: wpr-826542


OBJECTIVE@#To explore the genetic basis for a couple with normal phenotype but repeated pregnancies with fetuses affected by osteogenesis imperfecta.@*METHODS@#Whole exome sequencing (WES) was carried out on fetal specimens and parental DNA to detect potential pathologic variants. Suspected variants were verified by Sanger sequencing. Semen sample of the husband was collected for the extraction of genome DNA, and whole genome amplification (WGA) was performed for single sperms isolated from the sample.@*RESULTS@#WES has identified a heterozygous c.1378G>A (p.G460S) variant of the COL1A2 gene in the fetus, which was predicted to be pathogenic but not detected in peripheral blood samples of both husband and wife. The heterozygotic variant was detected in semen DNA from the husband. Among 15 spermatozoa, 4 were found to harbor the variant.@*CONCLUSION@#The fetus was diagnosed with osteogenesis imperfecta, and the gonadal mosaicism probably accounted for the repeated abnormal pregnancies. Possibility of gonadal mosaicism should be considered when counseling couples with normal phenotype and genotype but recurrent abnormal pregnancies and/or births of children with similar phenotypes and genetic variants.

Adult , Child , Collagen Type I , Genetics , Female , Fetus , Gonadal Disorders , Genetics , Humans , Male , Mosaicism , Mutation , Osteogenesis Imperfecta , Diagnosis , Genetics , Pregnancy , Prenatal Diagnosis , Whole Exome Sequencing
Belo Horizonte; s.n; 2020. 102 p. ilus, tab.
Thesis in Portuguese | LILACS, BBO | ID: biblio-1151429


As doenças genéticas raras são consideradas eventos patológicos de origem genética de baixa ocorrência e com ampla diversidade de sinais e sintomas. Geralmente, indivíduos acometidos com doenças raras apresentam alterações musculares, esqueléticas e do sistema nervoso central. Muitas manifestações orofaciais são comuns nessa parcela da população, que, na grande maioria das vezes, apresenta dificuldade de acesso ao tratamento odontológico adequado. O conceito de integralidade do cuidado é amplamente discutido tanto nas práticas na área da saúde, quanto nas discussões relacionadas à compreensão do ser humano, de sua condição integral e não parcial. Este estudo objetivou identificar fatores associados ao acesso ao serviço de saúde bucal para indivíduos com doença genética rara e sem doença genética rara. Foi realizado um estudo transversal, pareado por sexo e idade, com 140 indivíduos [70 com doença genética rara - Mucopolissacaridoses (n=29) / Osteogênese Imperfeita (n=41) - e 70 sem doença genética rara] e os pais/responsáveis. A amostra foi selecionada em dois hospitais referência para pacientes com doenças raras em Minas Gerais, sudeste do Brasil. Os pais/responsáveis responderam um questionário sobre aspectos individuais (sexo, idade, cor da pele e escolaridade dos pais/responsáveis) e história médica e odontológica do filho (infecções respiratórias, uso rotineiro de medicamentos, acesso ao serviço de saúde bucal). O tipo de doença rara (MPS ou OI) foi confirmado pelo prontuário médico do paciente. O acesso ao serviço de saúde bucal foi analisado por meio da questão "Seu filho já foi ao dentista?" Os participantes com doença rara e sem doença rara foram examinados quanto à cárie dentária, má oclusão, anomalias dentárias e higiene bucal. Foi construído um modelo teórico por meio de Directed Acyclic Graph (DAG) para identificar possíveis variáveis de confusão na associação entre doenças raras e acesso ao serviço de saúde bucal. O estudo foi aprovado pelo Comitê de Ética em Pesquisa da Universidade Federal de Minas Gerais. Foram realizadas análises de regressão logística condicional não-ajustada e ajustada (p<0,05). A faixa etária dos indivíduos examinados foi de três a 27 anos, com média de idade de 10,3 anos (±6,5). A chance de o indivíduo sem doença genética rara ter acesso ao serviço de saúde bucal foi 5,32 vezes maior (IC95%: 2,35-12,01). Indivíduos sem episódios de infecções das vias aéreas superiores (menos de seis meses) apresentaram 3,16 vezes maior chance de terem acesso ao serviço de saúde bucal (IC95%: 1,45-6,90). Concluiu-se que indivíduos sem doença rara e sem história de infecções das vias aéreas superiores (menos de seis meses) apresentaram maior chance de pertencerem ao grupo de indivíduos com acesso ao serviço de saúde bucal

Rare genetic diseases are considered pathological events of low-occurrence genetic origin and with wide diversity of signs and symptoms. Generally, individuals affected with rare diseases present muscle, skeletal and central nervous system alterations. Many orofacial manifestations are common in this part of the population, that in the vast majority of time it has difficulty accessing adequate dental treatment. The concept of comprehensive care is widely discussed both in health practices, then discussions related to the understanding of the human being, of his integral and non-partial condition. This study aimed to identify factors associated with access to oral health service for individuals with rare genetic disease and without rare genetic disease. A cross-sectional study was conducted, matched by sex and age, with 140 individuals [70 with rare genetic disease - Mucopolysaccharidosis (n=29) / Osteogenesis Imperfect (n=41) - and 70 without rare genetic disease] and parents/guardians. The sample was selected in two reference hospitals for patients with rare diseases in Minas Gerais, southeastern Brazil. Parents/guardians answered a questionnaire about individual aspects and medical and dental history of the child. Participants with rare disease and without rare disease were examined for dental caries, malocclusion, dental anomalies and oral hygiene. The theoretical model of the Directed Acyclic Graphs (DAG) was used to identify possible confounding variables in the association between rare diseases and access to oral health service. The study was approved by the Research Ethics Committee of Federal University of Minas Gerais. Unadjusted and adjusted conditional logistic regression analyzes were performed (p<0.05). The age group of the individuals examined was three to 27 years, with a mean age of 10.3 years (±6.5). The chance of the individual without rare genetic disease belonging to the group with access to oral health service was 5.32 times higher (IC95%: 2.35-12.01). Individuals without episodes of upper airway infections (less than six months) were 3.16 times more likely to be in the group with access to oral health service (IC95%: 1.45-6.90). It was concluded that individuals without rare disease and without history of upper airway infections (< 6 months) were more likely to belong to the group of individuals with access to oral health services.

Osteogenesis Imperfecta , Dental Care , Mucopolysaccharidoses , Dental Care for Disabled , Rare Diseases , Health Services , Health Services Accessibility , Cross-Sectional Studies
Rev. cuba. pediatr ; 91(4): e926, oct.-dic. 2019. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1093736


Introducción: la osteogénesis imperfecta es una rara enfermedad genética hereditaria caracterizada por su heterogeneidad causada por defectos del tejido conectivo con el rasgo de fragilidad ósea determinante de múltiples fracturas, incluso prenatales; deformidades de huesos largos y columna vertebral y otros síntomas extra-esqueléticos, como escleróticas de color azul, dentinogénesis imperfecta, trastorno de audición y afectación cardiovascular. Objetivo: Presentar un paciente con las características clínicas e imagenológicas de osteogénesis imperfecta de tipo III. Presentación del caso: Niño ecuatoriano de 4 años de edad de baja talla con antecedente de fracturas múltiples desde los 8 meses de nacido, con deformidad en columna vertebral demostrada por radiología por cifoescoliosis en forma de "S" y fracturas vertebrales, con deformidad progresiva en huesos largos; ha sufrido 16 fracturas, no deambula, sensorio presente, orientado en tiempo y espacio, desarrollo cognitivo normal para la edad. La fragilidad ósea del niño según el fenotipo clasifica al diagnóstico de tipo III de osteogénesis imperfecta, el cual es progresivo e invalidante por las deformidades óseas y múltiples fracturas demostradas en exámenes imagenológicos, sin modificaciones en el color de escleróticas, de herencia presumiblemente dominante. Conclusiones: La descripción clínica y radiológica de osteogénesis imperfecta, afección poco conocida, correspondiente al fenotipo III de la enfermedad, reportada en niño ecuatoriano de 4 años de edad, con talla baja que no deambula, expresión de la severidad de su afección genética, con severas alteraciones óseas por su fragilidad con fracturas múltiples en huesos largos y vértebras(AU)

Introduction: Osteogenesis imperfecta is a rare hereditary genetic disease characterized by its heterogeneity caused by connective tissue defects with the feature of bone fragility determining multiple fractures, even prenatal ones; also deformities of long bones and spine, and other extra-skeletal symptoms, such as blue sclerotic, dentinogenesis imperfecta, hearing disorder and cardiovascular affectations. Objective: To present a patient with clinical and radiological findings of osteogenesis imperfect type III. Case presentation: Ecuadorean male child of 4 years old, with a short height, history of multiple fractures from 8 months of age, with spinal deformity demonstrated by radiology due to "S" shaped kyphoscoliosis and vertebral fractures, with progressive deformity in long bones. The boy has suffered 16 fractures, he does not wander, and he is sensory present, oriented in time and space, with normal cognitive development for his age. The bone fragility of the child according to the phenotype classifies in the type III diagnosis of osteogenesis imperfecta, which is progressive and invalidating due to bone deformities and multiple fractures evidenced in imaging tests, without changes in the color of sclerotics and of presumably dominant inheritance. Conclusions: The clinical and radiological description of osteogenesis imperfecta, which is little-known pathology, corresponding to type III phenotype is reported in a 4-year-old boy who, due to his involvement, has a short height and does not wander as a consequence of the severity of bone affectations with fractures in long bones and vertebrae, mainly produced by the fragility of the bones due to his genetic disease(AU)

Humans , Male , Child, Preschool , Osteogenesis Imperfecta/diagnosis , Osteogenesis Imperfecta/diagnostic imaging , Rare Diseases/prevention & control , Early Diagnosis , Ecuador
Horiz. méd. (Impresa) ; 19(3): 84-88, Set. 2019. ilus
Article in Spanish | LILACS, LIPECS | ID: biblio-1022504


La osteogénesis imperfecta (OI) pertenece al grupo de enfermedades raras, dada su baja incidencia mundial. Esta dolencia consiste en una formación inadecuada del hueso, cuya principal consecuencia, desde el punto de vista clínico, es la tendencia a fracturas patológicas por excesiva fragilidad ósea, lo que lleva, muchas veces, a una calidad de vida limitada en las personas afectadas, con deformidades e invalidez. Para el diagnóstico prenatal de esta enfermedad, se emplean procedimientos invasivos, y no invasivos que permiten realizar el diagnóstico a edades gestacionales tempranas. Presentaremos el caso de una paciente vista en el Hospital de Rivera, de 35 años, portadora de osteogénesis imperfecta tipo IV, que curso su segunda gestación, con sospecha prenatal y confirmación diagnóstica al nacimiento de misma patología en el recién nacido.

Osteogenesis imperfecta (OI) belongs to the group of rare diseases due to its low incidence in the world population. It is a disorder which involves an inadequate bone formation that, from the clinical point of view, mainly leads to pathological fractures caused by extremely brittle bones. This frequently causes affected people to have a limited quality of life because of deformities and disability. Before birth, there are both invasive and noninvasive procedures that allow us to diagnose the disorder at early gestational ages. This is the case of a 35-year-old patient treated at the Hospital de Rivera, who had OI type IV and was pregnant with her second child. The same condition was suspected prenatally in the baby and subsequently confirmed at birth.

Pregnancy , Osteogenesis Imperfecta , Prenatal Diagnosis , Pregnancy
Rev. ecuat. pediatr ; 20(1): 4-9, Agosto2019.
Article in Spanish | LILACS | ID: biblio-1010308


La osteogénesis imperfecta (OI) abarca un grupo de enfermedades de origen genético, caracterizadas por un aumento de la fragilidad ósea, debido a una alteración cualitativa y cuantitativa de la masa ósea, que conlleva un riesgo mayor de recurrencia de fracturas y produce deformidades de diversa magnitud, especialmente en los huesos largos. La incidencia en el ámbito mundial es de aproximadamente 1 en 12 000 a 15 000 nacidos vivos. En nuestro país esta patología es poco conocida y además se lleva un sub-registro de los casos que se presentan. Conclusión: La OI es el trastorno hereditario más común del tejido conectivo; en el 90 % de los casos, se debe a las mutaciones de colágeno tipo I. Los tipos I a V son autosómicos dominantes y del VI al XIII son autosómicos recesivos. Las intervenciones terapéuticas existentes no son curativas. El manejo con bifosfonatos puede mejorar significativamente la historia natural de la enfermedad de tipo III y IV.

Osteogenesis imperfecta (OI) covers a group of diseases of genetic origin, is characterized by an increase in fragility of the bones due to a qualitative and quantitative alteration of bone mass, which entails a higher risk of fractures and produce deformities specially of long bones. The incidence worldwide is approximately 1 in 12,000 to 15,000 live births. In our country this pathology is little known and there is an under-reporting of OI cases. Conclusion: OI is the most common inherited disorder of connective tissue. 90% is due to mutations of type I collagen. Type I to type V are autosomal dominant and type VI to type XIII are autosomal recessive. The existing therapeutic interventions are not curative. Management with bisphosphonates can improve the natural history of type III and type IV disease.

Humans , Infant, Newborn , Osteogenesis Imperfecta , Frailty , Fractures, Spontaneous , Collagen , Inheritance Patterns , Diphosphonates
Acta ortop. mex ; 33(2): 63-66, mar.-abr. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1248636


Resumen: Introducción: La osteogénesis imperfecta (OI) es un grupo heterogéneo de enfermedades hereditarias, las cuales cursan con la presencia de fragilidad ósea, fracturas frecuentes, deformidades óseas y talla baja. El tratamiento con bifosfonatos en los pacientes con diagnóstico de OI ha demostrado un decremento en la frecuencia de fracturas, así como una mejoría en la densidad ósea vertebral. Existe poca evidencia sobre la calidad de vida en pacientes con OI posterior al tratamiento con bifosfonatos. ¿Los bifosfonatos mejoran la calidad de vida de los pacientes con OI? Material y métodos: Se trata de un ensayo prospectivo, de intervención deliberada, ensayo clínico autocontrolado. Nueve pacientes que se encontraban entre las edades de dos y 13 años con diagnóstico de OI fueron tratados con ácido zolendrónico. Se realizó una medición de la calidad de vida en los pacientes previa y posteriormente. Para la medición de la calidad de vida de los pacientes utilizamos la encuesta de calidad de vida PedsQL 4.0 que fue aplicada tanto a los niños como a los padres. Resultados: En la encuesta de calidad de vida efectuada a los padres se observó un incremento en las cuatro dimensiones evaluadas. En la encuesta realizada a los niños se apreció un aumento en dos dimensiones. El número de fracturas disminuyó posterior al tratamiento. Conclusiones: Existe una correlación entre la disminución del número de fracturas y la percepción que tienen tanto los padres como los niños en la calidad de vida posterior al tratamiento con bifosfonatos.

Abstract: Introduction: Osteogenesis imperfeta (OI) is defined as a heterogeneous group of hereditary diseases, which present with the presence of bone fragility, frequent fractures, bone deformities and short stature. Treatment with biphosfonates in patients with diagnosis of OI has shown a decrease in the frecuency of fractures, as well as an improvement in vertebral bone density. There is little evidence on quality of life in patients diagnosed with OI treated with bisphosphonates, Therefore this study evaluated the quality of life of patients diagnosed with OI after treatment with bisphosphonates. Material and methods: It is a prospective, deliberate intervention, self-controlled clinical trial. Nine patients with ages between two and thirteen ages and diagnosed with OI were treated with Zolendronic, a quality of life measurement was performed in the patients before and after the application. For measuring the quality of life in the patients we used the PedsQL 4.0 quality of life survey that was applied to both children and parents. Results: In the quality of life survey performed on the parents, an increase was observed in the four dimensions evaluated. In the survey made on the children two dimensions showed a significant increase. The number of fractures decreased after the treatment. Conclusions: There is a correlation between the decrease in the number of fractures and the perception that both parents and children have in the quality of life after treatment with bisphosphonates.

Humans , Child, Preschool , Child , Adolescent , Osteogenesis Imperfecta/complications , Osteogenesis Imperfecta/drug therapy , Quality of Life , Diphosphonates/therapeutic use , Bone Density Conservation Agents/therapeutic use , Prospective Studies
Rev. med. Rosario ; 85(1): 27-33, ene.-abr. 2019. ilus
Article in Spanish | LILACS | ID: biblio-1052937


La vertebroplastia percutánea es una técnica aplicable a pacientes con fractura vertebral con síndrome doloroso importante y que no mejora con un manejo ortopédico y clínico integral. Se incluye una apretada historia del procedimiento, y se revisan sus indicaciones y contraindicaciones, así como las publicaciones que analizan sus ventajas y riesgos (AU)

Percutaneous vertebroplasty is a technique for the treatment of patients with vertebral fracture who have persistent pain even after orthopedic and clinical therapeutic measures. A brief historical note of the procedure is presented, and its indications and contraindications are outlined, along with a literature overview of its advantages and risks (AU)

Female , Aged , Spinal Fractures/therapy , Vertebroplasty/history , Vertebroplasty/methods , Osteogenesis Imperfecta/complications , Osteoporosis/complications , Vertebroplasty/adverse effects
Rev. colomb. reumatol ; 26(1): 68-73, Jan.-Mar. 2019. tab, graf
Article in English | LILACS | ID: biblio-1098968


ABSTRACT Osteogenesis imperfecta (01) is an inherited disorder of phenotypically heterogeneous affec tions of the connective tissue. Until now, no definitive treatment for OI has been found. Certain drugs used in osteoporosis are used in these patients such as intravenous bisphosphonates in order to improve bone density. However, in recent years the use of denosumab, an anti-resorptive monoclonal antibody has shown positive results in bone mineral loss. There are no studies that directly compare the use of bisphosphonates and denosumab in OI. The following article presents a case of a 9-year-old patient with diagnosis of OI and a past medical history of epilepsy and cerebral palsy that was treated with bisphosphonates and denosumab.

RESUMEN La osteogénesis imperfecta (OI) es un trastorno hereditario del tejido conectivo fenotípicamente heterogéneo. Hasta ahora no se ha encontrado ningún tratamiento definitivo para la OI. Se aplican ciertos fármacos utilizados en la osteoporosis en estos pacientes como los bisfosfonatos intravenosos para mejorar la densidad ósea. Sin embargo, en los últimos arios el uso de denosumab, un anticuerpo monoclonal anti-resorción ha demostrado resultados positivos en la pérdida mineral ósea. No hay estudios que comparen directamente el uso de bisfosfonatos y denosumab en la OI. El artículo presenta un caso de OI infantil en una paciente de 9 años con antecedentes de epilepsia y parálisis cerebral, que fue tratada con bisfosfonatos y denosumab.

Humans , Child , Osteogenesis Imperfecta , Bone Density , Genetic Heterogeneity , Diphosphonates , Denosumab