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1.
Int Orthod ; 21(4): 100808, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37647676

RESUMO

OBJECTIVES: To evaluate treatment changes after total maxillary arch distalization using the casted palatal plate compared with buccal miniscrews. MATERIAL AND METHODS: This was a randomized, parallel, two-arm, single center trial. Participants were young adults with class II dental relationships and normal or horizontal growth patterns. The patients were treated with total distalization of the maxillary arch and were randomly allocated, according to the anchorage devices, between the plate group and the minivis group. The primary outcomes were sagittal, vertical and angular changes of molars and incisors, while the secondary outcomes were skeletal and soft tissue changes. Outcomes were evaluated on lateral cephalograms and blinding of outcome assessment was implemented. A multivariate analysis of Variance (MANOVA) tests were used and Bonferroni correction for multiple comparisons with P<0.001. RESULTS: Forty patients (33 females and 7 males; mean age 20±3.1 years) where enrolled. A significant distalization of U6 was observed in both groups (4.33mm in the plate group and 1.88mm in the miniscrews group). It was combined with significant intrusion and non-significant distal tipping of the U6 in the plate group (1.85mm and 3.10°, respectively), while intrusion and distal tipping were non-significant in the miniscrew group (0.8mm and 2°, respectively). Both groups showed significant retraction and palatal inclination without vertical changes of U1. Only the plate group produced significant reduction of ANB and Wits. Upper and lower lips were retracted and the nasolabial angle increased significantly in both groups. There was no significant main effect of the appliance type on the comparison of treatment effects between the two groups (P=0.623). However, univariate comparisons showed that the plaque group showed greater distalization of the U6 (P<0.001). CONCLUSIONS: Both the casted palatal plate and buccal miniscrews can be viable devices for total distalization of the maxillary arch in the treatment of class II patients. The casted plate may be considered when more extensive distalization is required.


Assuntos
Má Oclusão Classe II de Angle , Procedimentos de Ancoragem Ortodôntica , Masculino , Feminino , Adulto Jovem , Humanos , Adolescente , Adulto , Má Oclusão Classe II de Angle/diagnóstico por imagem , Má Oclusão Classe II de Angle/terapia , Técnicas de Movimentação Dentária , Cefalometria , Maxila , Desenho de Aparelho Ortodôntico
2.
J Forensic Leg Med ; 93: 102471, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36584500

RESUMO

Neurocysticercosis is endemic in many parts of the underdeveloped and developing countries, with continuous presence in developed countries due to the influx of migrants from regions where the diseases are endemic. Neuroimaging, anatomic pathological techniques, immunodiagnostic tests, clinical examination and epidemiologic considerations will easily provide the diagnosis. However, physicians in developed countries are perhaps progressively missing the diagnosis, and need to re-acquaint themselves with the condition and acquire a high suspicion index. The authors present a medicolegal case where the forensic team made a conclusion of neurocysticercosis (among other diagnoses), following post mortem examination of a largely skeletonized and mummified human remains. Characteristic changes were observed in the calvarium of the decedent at autopsy. Review of the antemortem medical records revealed that Computed Tomography (CT) scan had 12 years earlier, suggested diagnostic features in a Hispanic migrant, but the attending surgeons failed to consider the possibility of the condition. Physicians should pay attention to suggestive clinical findings especially when attending to individuals coming from endemic parts of the world. Cysticercosis remains endemic and a misdiagnosis can potentially attract medical malpractice suits. Forensic pathologists should also consider the possibility of uncommon clinical disorders, even in skeletonized remains. Perhaps an earlier diagnosis might have altered the outcome in the decedent.


Assuntos
Neurocisticercose , Humanos , Neurocisticercose/diagnóstico , Neurocisticercose/epidemiologia , Neurocisticercose/patologia , Restos Mortais , Autopsia , Neuroimagem/métodos , Tomografia Computadorizada por Raios X
3.
Rev. Paul. Pediatr. (Ed. Port., Online) ; 41: e2021298, 2023. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1431375

RESUMO

Abstract Objective: To evaluate the presence of axial skeletal deviations in children and adolescents and to relate them to body mass index (BMI), age and sex. Methods: 101 patients aged 7 to 17 years old were included in this study; exclusion criteria were primary orthopedic diseases and syndromes or treatments that affect growth. Patients were grouped according to their BMI Z-score: eutrophic (n=29), overweight (n=18) and obese (n=54). They underwent static clinical inspection was made by simetrographic technique. Intermaleolar distance was obtained, Adam's forward bend and tiptoe tests were performed. Results: When comparing obese and eutrophic patients, changes in the cervical spine (p<0.01), spine (p<0.001), hip (p<0.01) and shoulders (p<0.001) were present in more than half of the obese patients (62.5%, 62.2%, 79.9% and 55.4%, respectively). Changes in the knees were more frequent among obese (p<0.001) when compared to eutrophic patients. There was no variation regarding age or sex (p>0.05). Conclusions: being overweight influences skeletal deviations in children and adolescents.


RESUMO Objetivo: Avaliar a presença de desvios do esqueleto axial em crianças e adolescentes e relacioná-los com índice de massa corpórea, idade e sexo. Métodos: Fizeram parte deste estudo 101 pacientes de sete a 17 anos, os quais não possuíam doenças ortopédicas primárias, síndromes ou tratamentos que afetassem o crescimento. Os pacientes foram agrupados conforme os escores Z do índice de massa corpórea em: eutróficos (n=29), com sobrepeso (n=18) e obesos (n=54). Foram avaliados por meio da inspeção clínica estática, com simetrógrafo de parede, medida da distância intermaleolar, manobra de Adams e teste da ponta dos pés. Resultados: Quando comparados os pacientes obesos com os eutróficos, alterações de coluna cervical (p<0,01), coluna (p<0,001), quadril (p<0,01) e ombros (p<0,001) ocorreram em mais da metade dos obesos (62,5, 62,2, 79,9 e 55,4%, respectivamente). Alterações nos joelhos foram mais frequentes entre os obesos (p<0,001) quando comparados aos eutróficos. Não houve variação com a idade ou o sexo (p>0,05). Conclusões: Conclui-se que o excesso de peso exerce influência sobre desvios do esqueleto em crianças e adolescentes.

4.
Ann Med ; 53(1): 1676-1687, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34569391

RESUMO

INTRODUCTION: Respiratory failure is a major cause of death in patients with Osteogenesis Imperfecta. Moreover, respiratory symptoms seem to have a dramatic impact on their quality of life. It has long been thought that lung function disorders in OI are mainly due to changes in the thoracic wall, caused by bone deformities. However, recent studies indicate that alterations in the lung itself can also undermine respiratory health. OBJECTIVES: Is there any intrapulmonary alteration in Osteogenesis Imperfecta that can explain decreased pulmonary function? The aim of this systematic literature review is to investigate to what extent intrapulmonary or extrapulmonary thoracic changes contribute to respiratory dysfunction in Osteogenesis Imperfecta. METHODS: A literature search (in PubMed, Embase, Web of Science, and Cochrane), which included articles from inception to December 2020, was performed in accordance with the PRISMA guidelines. RESULTS: Pulmonary function disorders have been described in many studies as secondary to scoliosis or to thoracic skeletal deformities. The findings of this systematic review suggest that reduced pulmonary function can also be caused by a primary pulmonary problem due to intrinsic collagen alterations. CONCLUSIONS: Based on the most recent studies, the review indicates that pulmonary defects may be a consequence of abnormal collagen type I distorting the intrapulmonary structure of the lung. Lung function deteriorates further when intrapulmonary defects are combined with severe thoracic abnormalities. This systematic review reveals novel findings of the underlying pathological mechanism which have clinical and diagnostic implications for the assessment and treatment of pulmonary function disorders in Osteogenesis Imperfecta.KEY MESSAGESDecreased pulmonary function in Osteogenesis Imperfecta can be attributed to primary pulmonary defects due to intrapulmonary collagen alterations and not solely to secondary problems arising from thoracic skeletal dysplasia.Type I collagen defects play a crucial role in the development of the lung parenchyma and defects, therefore, affect pulmonary function. More awareness is needed among physicians about pulmonary complications in Osteogenesis Imperfecta to develop novel concepts on clinical and diagnostic assessment of pulmonary functional disorders.


Assuntos
Osteogênese Imperfeita/complicações , Insuficiência Respiratória/fisiopatologia , Humanos , Pulmão , Osteogênese Imperfeita/patologia , Qualidade de Vida , Testes de Função Respiratória , Insuficiência Respiratória/etiologia , Escoliose
5.
J World Fed Orthod ; 10(2): 59-69, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33785320

RESUMO

BACKGROUND: The use of fixed functional appliances (FFAs) in conjunction with temporary anchorage devices (TADs) has been proposed to enhance skeletal changes and reduce proclination of the lower incisors. OBJECTIVES: To systematically investigate the skeletal and dentoalveolar effects of FFAs with TADs on Class II malocclusion in adolescents. METHODS: Electronic searches of databases and manual searches of references were performed up to August 30, 2020. Randomized controlled trials (RCTs) and clinical controlled trials (CCTs) focusing on adolescent patients treated with FFAs combining TADs were included. The modified Cochrane risk-of-bias tool (R.O.B 2.0) and ROBINS-I (Risk of Bias in Non-randomized Studies-of Interventions) Tool were used to assess the risk of bias in RCTs and CCTs, respectively. Meta-analyses of SNA, SNB, ANB, Co-Gn, SN-MP, the lower and upper incisor inclination changes were performed. Subgroup analyses and sensitivity analyses were conducted based on TAD types, FFA types, record types and types of study designs. RESULTS: Ten studies were included with a sample size of 281. Meta-analyses revealed significant differences in the changes in SNB (mean difference [MD] 0.67; 95% confidence interval [CI] 0.04-1.29), ANB (MD -1.22, 95% CI -2.04 to -0.39), Co-Gn (MD 1.57; 95% CI 0.22-2.92), inclination of the lower incisors (MD -5.64, 95% CI -7.78 to -3.50)] and inclination of the upper incisors (MD -1.91; 95% CI -3.69 to -0.13). TAD types and FFA types seem to affect the treatment outcome. CONCLUSIONS: Compared with FFAs alone, FFAs with TADs exhibit superior skeletal effects and reduce the inclination of the lower incisors in the short term; however, the evidence showed moderate to high risk of bias. Registration number CRD42020177611.


Assuntos
Má Oclusão Classe II de Angle , Aparelhos Ortodônticos Funcionais , Adolescente , Humanos , Incisivo , Má Oclusão Classe II de Angle/terapia , Aparelhos Ortodônticos Fixos , Resultado do Tratamento
6.
J Orofac Orthop ; 80(5): 254-265, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31444543

RESUMO

INTRODUCTION: To three-dimensionally analyze the skeletal and pharyngeal airway changes induced by Twin Block (TWB) and Forsus Fatigue Resistance Device (FFRD) in skeletal Class II female patients compared with untreated controls. MATERIALS AND METHODS: The study comprised 62 growing female patients with skeletal Class II malocclusion due to mandibular retrusion treated with either TWB (n = 23) or FFRD (n = 21), or neither (n = 18; controls). Pre- and posttreatment/observational cone beam computed tomography images were used to evaluate the treatment changes. RESULTS: TWB induced more obvious mandibular skeletal changes and caused significant retrusive effects on the maxilla. Similarly, the sagittal and vertical jaw relationships were affected more obviously with TWB (P <0.001) compared to FFRD. Changes in oropharyngeal volume and minimal axial area were more obvious with TWB. DISCUSSION: The TWB functional appliance induced significant skeletal and pharyngeal airway changes. These changes were more obvious relative to the slight changes induced by FFRD or by natural growth.


Assuntos
Má Oclusão Classe II de Angle , Aparelhos Ortodônticos Funcionais , Retrognatismo , Cefalometria , Tomografia Computadorizada de Feixe Cônico , Feminino , Humanos , Mandíbula , Faringe
7.
Int J Pediatr Otorhinolaryngol ; 125: 59-65, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31260809

RESUMO

OBJECTIVES: Among children with ß-thalassaemia, skeletal changes and abnormalities, such as decreased volume or obliteration of the sinus, result primarily from hypertrophy and expansion of the erythroid marrow due to ineffective erythropoiesis. This study evaluated the volumes and surface areas of the maxillary sinuses of children with ß-thalassaemia using cone beam computed tomography (CBCT), and compared these findings with corresponding measurements in age- and sex-matched control children. METHODS: CBCT images were retrospectively evaluated for 16 children with ß-thalassaemia, 19 children with a class I skeletal pattern (class I group), and 18 children with a class II skeletal pattern (class II group). After three-dimensional analyses and segmentation of each maxillary sinus, the volumes and surface areas were calculated. RESULTS: The volumes and surface areas of the right (p > 0.05 and p > 0.05) and left maxillary sinuses (p > 0.05 and p > 0.05) and SNA angles (p > 0.05) were not significantly different among the groups. The ANB (p < 0.05) and SNGoMe (p < 0.05) angles were significantly greater and the SNB (p < 0.05) angle was significantly smaller in the class II and thalassaemia groups than in the class I group. CONCLUSION: Children with thalassaemia tended to have lower maxillary sinus volumes and surface areas on both right and left sides, compared to those of children with class I and class II skeletal patterns; however, these differences were not statistically significant. In children with thalassaemia, a large intermaxillary discrepancy (ANB) indicated a tendency toward the class II skeletal pattern.


Assuntos
Seio Maxilar/diagnóstico por imagem , Talassemia beta/epidemiologia , Criança , Tomografia Computadorizada de Feixe Cônico , Feminino , Humanos , Imageamento Tridimensional , Masculino , Estudos Retrospectivos , Talassemia beta/complicações
8.
Sleep Med ; 60: 75-80, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30630675

RESUMO

OBJECTIVE: The objective of this study was to evaluate the skeletal effects of rapid maxillary expansion (RME) therapy performed using teeth as anchors, in obstructive sleep apnea (OSA) children, by low-dose computed tomography (CT) of the midpalatal suture opening, maxillary base width, nasal cavities width, first molar angulation and, unlike most studies in the literature, on the pterygoid processes distance. METHODS: Fourteen children (mean age 8.68 years) with OSA presenting a malocclusion characterized by upper-jaw contraction had 16-Multislice CT (MSCT) scans taken before (T0) and after (T1) RME. All exams were performed using a rigid protocol to ensure reproducibility of image collection over time, with a 16-row MSCT scanner equipped with a Dentascan reconstruction program. Scanning parameters were as follows: scout view in the anteroposterior (AP) and laterolateral (LL); 1.25-mm slice thickness with 0.6-mm collimation from the dentoalveolar and basal areas of the maxilla up to the nasal cavity, parallel to the palatal plane; 80 kV, 100 mA with an 11.25-mm table speed/rotation, rotation time 0.6 s. Matrix size was 512 × 512. RESULTS: Opening of the midpalatal suture was demonstrated in all cases. The results showed statistically significant T0 to T1 increments in all treated cases and clear imaging findings. CONCLUSION: Use of three-dimensional (3D)-CT for follow-up studies requires a very rigid protocol to maintain reproducible positions in the scanner over time. The images confirm the real remodeling of craniofacial structure. However, to be valid such an imaging approach needs great attention to reproducibility of anatomic images over time. The changes in volume of the UA, even with a rigid protocol, cannot be affirmed with 3D-CT. There is a need to improve the definition of markers using this imaging approach when performing longitudinal studies; currently this issue is unresolved.


Assuntos
Má Oclusão , Técnica de Expansão Palatina , Apneia Obstrutiva do Sono/cirurgia , Tomografia Computadorizada por Raios X , Criança , Anormalidades Craniofaciais , Feminino , Seguimentos , Humanos , Masculino , Cavidade Nasal/diagnóstico por imagem , Reprodutibilidade dos Testes
9.
Int J Health Sci (Qassim) ; 12(4): 3-10, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30022897

RESUMO

OBJECTIVE: The objective of this to find the prevalence of skeletal and visceral changes in thalassemics and its relationship with variation in blood components. METHODOLOGY: This is a cross-sectional study conducted in tertiary care hospital in Karachi among patients diagnosed with thalassemia major who require regular blood transfusions. RESULT: Among 200 individuals, 95 were females, whereas 105 were males. 96.5% of the study sample showed normocytic normochromic blood picture. Mean pre-transfusion hemoglobin (Hb) for 200 patients was 8.91 g/dl, while the mean post-transfusion Hb was 12.07 g/dl. Among all the variables, some strong predictors of change were age and HbA which were found associated with the development of cardiac change in transfusion-dependent thalassemia patients. Hepatomegaly was observed in 66.5% of the patients while normal liver span was observed in 33.5%. 6% of patients showed evidence of skeletal changes on X-ray. Splenomegaly was observed in 26.5%, while in 4.5% of the patients, spleen was not visualized due to splenectomy. Cardiac involvement was observed in 8% of the patients on T2*magnetic resonance imaging. CONCLUSION: Visceral changes particularly hepatomegaly is very common among transfusion-dependent thalassemia patients. Blood studies for Hb and ferritin levels help to detect these changes when conventional investigations are not possible.

10.
J Orthod Sci ; 7: 5, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29765917

RESUMO

OBJECTIVE: The aim of this systematic review and meta-analysis is to quantitatively compare previous studies that evaluated skeletal and dentoalveolar effects of the Forsus™ Fatigue Resistance Device (FRD) in the treatment of Class II malocclusion with a matched untreated control group. MATERIALS AND METHODS: Four electronic searches PubMed, Web of Science, Cochrane Library, and Science Direct that were limited to articles on human studies comparing the effect of Forsus appliance with a matched control group in the treatment of Class II malocclusion from the year (2000-2017). An additional manual search was carried out by examining the references of the included articles, SEARCH terms included; Forsus and Class II malocclusion. The quality of the included studies was assessed using the modified methodological score for clinical trials. The data were analyzed using Michael Borenstein's Comprehensive Meta-Analysis Software (V3.3.070, Biostat, Inc., US). RESULTS: Seven studies were included comprising 273 participants (Forsus group = 142; control group = 131). The results indicated a statistical significant skeletal effect of the Forsus appliance on increasing the occlusal plane only (P < 0.001). The results also indicated a statistical significant (P < 0.001) dentoalveolar effects of the Forsus appliance on the following outcomes; protruding, proclining, and intruding lower incisors; retroclining upper incisors, distalizing and intruding upper molars, as well as reducing overjet and overbite. CONCLUSIONS: The Forsus™ showed positive effects on the maxillary incisors and first molars as well as overjet and overbite. However, multiple negative effects were reported on the occlusal plane and lower incisors that need to be considered when using such appliance in treating Class II malocclusion.

11.
J Craniomaxillofac Surg ; 44(4): 427-35, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26874555

RESUMO

Accurate prediction of hard and soft tissue changes is essential in orthognathic surgery. The aim of the present study was to systematically investigate the relation between soft and hard tissue relocation after mandibular setback surgery. A systematic search was performed, correlation coefficients and ratios were retrieved from the eligible studies, and the risk of bias was assessed. The random effects method was used to combine data. The five eligible studies showed that sagittal changes in pogonion, point B, and incision inferius incisalis are highly correlated with respective soft tissue movements and exhibit ratios ranging from 0.915 to 1.051. Only two studies were classified as having a moderate risk of bias. Although the characteristics of the included data limit the formation of definite conclusions, the soft to hard tissue movement ratios produced constitute initial clinically relevant guidance. Further long-term standardized and well-conducted trials are needed.


Assuntos
Mandíbula/cirurgia , Procedimentos Cirúrgicos Ortognáticos/métodos , Cefalometria , Queixo/cirurgia , Face , Humanos , Cirurgia Ortognática , Osteotomia , Complicações Pós-Operatórias , Prognatismo/cirurgia
12.
Int J Pediatr Otorhinolaryngol ; 79(12): 2253-9, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26553397

RESUMO

OBJECTIVES: Skeletal changes among beta (ß) thalassemia children are well documented, but without available data regarding sino-nasal passages alterations. The authors investigated the maxillary sinuses and sino-nasal passages changes in ß-thalassemia children and correlated such changes with the amount of transfused red cells and the erythroid marrow activity. METHODS: Clinical analyses including otorhinolaryngical examination (ORL) were obtained in twenty ß-thalassemia children and 20 matched healthy controls. Hemoglobin (Hb), serum ferritin, soluble transferrin receptor (sTfR) levels and bone mineral density of the lumbar spine (BMD ls) were assayed. The two groups were analyzed for the CT image parameters: bone thickness, anterior and posterior choanae diameters, extramedullary hematopoiesis and chronic rhinosinusitis (CRS) RESULTS: Nasal congestion/obstruction was identified in 14 (70%) children. Eight patients (40%) had criteria of chronic rhinosinusitis. In comparison with the normal controls, the increase in the roof, floor, medial, anterior, lateral and posterior maxillary bony walls thickness was significantly higher (1.26, 2.46, 2.6, 2.9, 3.23 and 5.34-folds, respectively). The mean posterior choanae horizontal, vertical diameters and their surface area were significantly reduced in the patients compared to the controls. The mean anterior maxillary wall bone thickness directly correlated with sTfR (P=0.047) while that of the posterior wall correlated inversely with Hb level (P=0.013). The mean vertical posterior choanae diameter had positive correlation with the amount of transfused red cells (P=0.001) and negative correlation with sTfR (P=0.001). The Hounsfield unit of maxillary sinus wall had direct relation with BMDls (P=0.003) CONCLUSIONS: Thalassemia children are at risk of different folds increase of maxillary sinuses walls thicknesses utmost at posterior and lateral walls. Other sino-nasal morbidities include diminished posterior choanal diameter, nasal obstruction and CRS. Certain morbidities had relations to the erythroid marrow activity and the transfusion adequacy.


Assuntos
Seio Maxilar/diagnóstico por imagem , Obstrução Nasal/complicações , Rinite/complicações , Sinusite/complicações , Talassemia beta/complicações , Estudos de Casos e Controles , Criança , Doença Crônica , Transfusão de Eritrócitos , Feminino , Hemoglobinas/análise , Humanos , Masculino , Tomografia Computadorizada Multidetectores , Nasofaringe/diagnóstico por imagem , Estudos Prospectivos
13.
Clin Case Rep ; 3(9): 762-6, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26401283

RESUMO

We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother's radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic distal phalanges.

14.
Pediatr Blood Cancer ; 62(9): 1645-9, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25820806

RESUMO

INTRODUCTION: Hematopoietic stem cell transplantation (HSCT) is the only known curative treatment of malignant infantile osteopetrosis (MIOP). In this study, short-term serial bone surveys were used to assess radiologic evolution of skeletal changes after HSCT in MIOP. MATERIALS AND METHODS: Baseline whole-body bone survey was performed in all patients. HSCT was successful in 14 patients (11 with full chimerism, three with mixed chimerism) in whom follow-up bone surveys were carried out at 6 and 12 months after HSCT. RESULTS: Normal corticomedullary differentiation was evident in five (P = 0.06) and 12 (P < 0.005) patients at 6 and 12 months, respectively. Abnormal endobone appearance in long bones, present in 11 participants at baseline exam, disappeared in eight (P = 0.008) and all (P = 0.001) patients at 6 and 12 months, respectively. In 6-month follow-up, rachitic changes significantly disappeared (P < 0.01) in long bones; however, they were evident in ribs of 12 patients (P = 0.50). No patient had rickets in ribs or long bones after 12 months. CONCLUSION: We observed considerable resolution of MIOP skeletal changes after HSCT in all patients with either full or mixed chimerism. Rachitic changes in long bones, attenuated corticomedullary differentiation, and endobone appearance were the first to resolve. We propose using single long bone plain x-ray to demonstrate short-term skeletal response to HSCT.


Assuntos
Osso e Ossos/diagnóstico por imagem , Transplante de Células-Tronco Hematopoéticas , Osteopetrose/terapia , Biópsia , Osso e Ossos/patologia , Pré-Escolar , Feminino , Seguimentos , Sobrevivência de Enxerto , Humanos , Lactente , Masculino , Osteopetrose/congênito , Osteopetrose/diagnóstico por imagem , Osteopetrose/patologia , Estudos Prospectivos , Radiografia , Transplantados , Quimeras de Transplante , Resultado do Tratamento
15.
Am J Med Genet A ; 164A(2): 516-21, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24311527

RESUMO

An adolescent female presented with intellectual disability, stimulus-induced drop episodes (SIDEs), facial characteristics that include wide set eyes, short nose with wide columella, full and everted lips with wide mouth and progressive skeletal changes: scoliosis, spondylolisthesis and pectus excavatum. These findings were suggestive of Coffin-Lowry syndrome (CLS), and this was confirmed by the identification of a novel mutation in RPS6KA3, a heterozygous one basepair duplication at nucleotide 1570 (c.1570dupA). This mutation occurs within the C-terminal kinase domain of the protein, and, therefore contradicts the previous report that SIDEs is only associated with premature truncation of the protein in the N-terminal kinase domain or upstream of this domain. As CLS is X-linked, it is unusual for a female to have such a classic phenotype.


Assuntos
Síndrome de Coffin-Lowry/diagnóstico , Síndrome de Coffin-Lowry/genética , Genótipo , Fenótipo , Proteínas Quinases S6 Ribossômicas 90-kDa/genética , Criança , Pré-Escolar , Análise Mutacional de DNA , Fácies , Feminino , Humanos , Lactente , Mutação , Domínios e Motivos de Interação entre Proteínas , Radiografia , Proteínas Quinases S6 Ribossômicas 90-kDa/química , Escoliose/diagnóstico por imagem , Escoliose/genética
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