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1.
Medicine (Baltimore) ; 99(34): e21837, 2020 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-32846830

RESUMO

RATIONALE: Repair of soft tissue defects on the dorsum of the hand with accompanying tendon defects is a challenging problem in clinical practice. PATIENT CONCERNS: Here, we describe the case of a 3-year-old boy with a 1-week old soft tissue injury with infection due to a soft tissue defect on the dorsum of his right hand, and further describe its treatment. DIAGNOSIS: A diagnosis of a soft tissue defect of the dorsum with extensor tendon defects in the fore, middle, ring, and little fingers of the right hand was made. INTERVENTIONS: The defects were repaired using a dorsal foot flap combined with the extensor digitorum brevis tendon, under spinal anesthesia, and a small dose of the sedative phenobarbital (Lumina) was administered via pump injection after the surgery. OUTCOMES: The patient was followed-up for 6 months. The shape of the dorsal hand flap recovered satisfactorily and the skin color was almost normal. Protective sensation was restored and the tendon graft functioned well in vivo. Satisfactory outcomes were achieved in the flexion and extension of each finger. LESSONS: This case study provides evidence that for soft tissue defects on the dorsum of the hand with tendon defects, 1-stage transfer of a dorsal foot flap with the extensor digitorum brevis tendon can be effective for recovery of appearance and extensor function. In case of infant patients, postoperative use of low-dose sedation can effectively reduce the risk of vascular crisis, thus promoting survival of the flap graft, and ensuring the success of the operation.


Assuntos
Anormalidades Musculoesqueléticas/cirurgia , Retalhos Cirúrgicos/transplante , Transferência Tendinosa/métodos , Tendões/cirurgia , Assistência ao Convalescente , Pré-Escolar , Traumatismos da Mão/complicações , Traumatismos da Mão/cirurgia , Humanos , Masculino , Anormalidades Musculoesqueléticas/etiologia , Infecções dos Tecidos Moles/microbiologia , Lesões dos Tecidos Moles/complicações , Tendões/anormalidades , Resultado do Tratamento
2.
Wiad Lek ; 73(6): 1267-1271, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32723967

RESUMO

OBJECTIVE: The aim is to determine the risk factors of sternal cleft and segmental facial hemangiomas association in children with PHACES syndrome. PATIENTS AND METHODS: Materials and methods: 32 inpatient children with segmental facial hemangiomas and 19 children with sternal cleft were investigated concerning the Metry criteria of PHACES syndrome. RESULTS: Results: In 6 children PHACE syndrome was diagnosed. Patients with bilateral S3 hemangiomas (50%, 3/6) had airway involvement with respiratory disorders. Conservative treatment was propranolol monotherapy (66.7%, 4/6), or combination of prednisolone and propranolol (33.3%, 2/6). Duration of propranolol treatment in children with PHACES syndrome was on an average 24.25 ± 4.49 months exceeding the duration of propranolol therapy in children with isolated soft tissue lesions (p<0.05). Primary surgical treatment of sternal cleft performed in children aged 2 (n=3) and 4 (n=1) months. The later period of surgery associated with the localization of hemangioma in the surgery region. Primary repair of sternal cleft was completed successfully in all cases; partial resection of the thymus made closure easier. CONCLUSION: Conclusions: Primary surgical correction of a sternal cleft performed in young children provides good results. Partial resection of the thymus prevents respiratory and cardiovascular complications. Preoperative propranolol treatment averts the hemorrhagic complications in children with hemangiomas in surgical region.


Assuntos
Neoplasias Faciais , Hemangioma , Anormalidades Musculoesqueléticas , Criança , Pré-Escolar , Tratamento Conservador , Humanos , Lactente , Esterno/anormalidades
3.
Niger Postgrad Med J ; 27(3): 237-241, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32687125

RESUMO

Context: Although congenital hand anomalies are among the more common musculoskeletal anomalies worldwide, we do not know its prevalence in our practice. Aims: The aim of the study was to determine the pattern of congenital hand anomalies presenting to our tertiary plastic surgery outpatient service in South-Western Nigeria. Materials and Methods: This is a cross-sectional retrospective analysis of outpatient cases of congenital hand anomalies presenting over a 10-year period. Descriptive and inferential statistics were performed using frequencies, Student's t-test and Chi-square as appropriate. The data were analysed using IBM SPSS Statistics 23.0. The statistical significance value was set at P < 0.05. Results: One hundred and twenty-two cases were identified. The highest number of cases was seen in the year 2012, 23 patients (19.3%). There was a male preponderance of 66 patients (55.1%). Thirty-two patients (26.2%) presented as neonates and 36 (29.5%) as infants. Bilateral anomalies were seen in 67 patients (54.9%). The most common anomaly was failure of differentiation, 88 patients (72.1%) followed by duplication, 26 patients (21.3%). Syndactyly with 43 patients (35.2%) was the most common anomaly under failure of differentiation. No significant associations were found between the type of anomaly and gender or laterality. Conclusions: Syndactyly was the most common congenital hand anomaly in this study. There was a preponderance of bilateral involvement in both syndactyly and polydactyly.


Assuntos
Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/cirurgia , Polidactilia/diagnóstico , Polidactilia/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/estatística & dados numéricos , Centro Cirúrgico Hospitalar/estatística & dados numéricos , Sindactilia/diagnóstico , Sindactilia/cirurgia , Adolescente , Adulto , Distribuição por Idade , Criança , Pré-Escolar , Estudos Transversais , Deformidades Congênitas da Mão/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Anormalidades Musculoesqueléticas/epidemiologia , Nigéria/epidemiologia , Polidactilia/epidemiologia , Estudos Retrospectivos , Distribuição por Sexo , Cirurgia Plástica , Sindactilia/epidemiologia , Adulto Jovem
4.
Orthop Clin North Am ; 51(3): 345-360, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32498953

RESUMO

Lower extremity deformities in children rely on osteotomies for correction. Percutaneous osteotomies offer a method for cutting bone that is advantageous for soft tissue healing. These low-energy osteotomies preserve the blood supply to bone, which maximizes the ability of bone to heal. Some of these techniques are technically demanding and should be performed first with an experienced operator. The key to maintaining safety in these osteotomies is to remain in a subperiosteal location. The categories of percutaneous osteotomy include multiple drill hole osteotomy, corticotomy, and Gigli saw osteotomy. This article discusses the advantages and indications for each type of osteotomy.


Assuntos
Osso e Ossos/anormalidades , Osso e Ossos/cirurgia , Anormalidades Musculoesqueléticas/cirurgia , Osteotomia/métodos , Criança , Humanos , Procedimentos Cirúrgicos Minimamente Invasivos/métodos
5.
Nat Commun ; 11(1): 3168, 2020 06 23.
Artigo em Inglês | MEDLINE | ID: mdl-32576830

RESUMO

In humans, mutations in the PIEZO2 gene, which encodes for a mechanosensitive ion channel, were found to result in skeletal abnormalities including scoliosis and hip dysplasia. Here, we show in mice that loss of Piezo2 expression in the proprioceptive system recapitulates several human skeletal abnormalities. While loss of Piezo2 in chondrogenic or osteogenic lineages does not lead to human-like skeletal abnormalities, its loss in proprioceptive neurons leads to spine malalignment and hip dysplasia. To validate the non-autonomous role of proprioception in hip joint morphogenesis, we studied this process in mice mutant for proprioceptive system regulators Runx3 or Egr3. Loss of Runx3 in the peripheral nervous system, but not in skeletal lineages, leads to similar joint abnormalities, as does Egr3 loss of function. These findings expand the range of known regulatory roles of the proprioception system on the skeleton and provide a central component of the underlying molecular mechanism, namely Piezo2.


Assuntos
Canais Iônicos/metabolismo , Anormalidades Musculoesqueléticas/metabolismo , Sistema Musculoesquelético/metabolismo , Neurônios/metabolismo , Propriocepção/fisiologia , Anormalidades Múltiplas , Animais , Remodelação Óssea , Subunidade alfa 3 de Fator de Ligação ao Core/metabolismo , Modelos Animais de Doenças , Proteína 3 de Resposta de Crescimento Precoce/metabolismo , Predisposição Genética para Doença/genética , Luxação do Quadril/genética , Luxação do Quadril/metabolismo , Luxação do Quadril/patologia , Articulação do Quadril/anatomia & histologia , Articulação do Quadril/metabolismo , Articulação do Quadril/patologia , Canais Iônicos/genética , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Anormalidades Musculoesqueléticas/genética , Anormalidades Musculoesqueléticas/patologia , Sistema Musculoesquelético/patologia , Escoliose
6.
PLoS One ; 15(6): e0235285, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32598402

RESUMO

Spindly leg syndrome (SLS) is a relatively common musculoskeletal abnormality associated with captive-rearing of amphibians with aquatic larvae. We conducted an experiment to investigate the role of environmental calcium and phosphate in causing SLS in tadpoles. Our 600-tadpole experiment used a fully-factorial design, rearing Atelopus varius tadpoles in water with either high (80mg/l CaCO3), medium (50mg/l CaCO3), or low calcium hardness (20mg/l CaCO3), each was combined with high (1.74 mg/l PO4) or low (0.36 mg/l PO4) phosphate levels. We found that calcium supplementation significantly improved tadpole survival from 19% to 49% and that low calcium treatments had 60% SLS that was reduced to about 15% at the medium and high calcium treatments. Phosphate supplementation significantly reduced SLS prevalence in low calcium treatments. This experimental research clearly links SLS to the calcium: phosphate homeostatic system, but we were unable to completely eliminate the issue, suggesting an interactive role of other unidentified factors.


Assuntos
Bufonidae/anormalidades , Cálcio/efeitos adversos , Anormalidades Musculoesqueléticas/patologia , Fosfatos/efeitos adversos , Animais , Bufonidae/crescimento & desenvolvimento , Cálcio/administração & dosagem , Meio Ambiente , Anormalidades Musculoesqueléticas/etiologia , Fosfatos/administração & dosagem , Síndrome
7.
BMJ ; 369: m1494, 2020 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-32434758

RESUMO

OBJECTIVE: To examine the risk of congenital malformations associated with exposure to oral fluconazole at commonly used doses in the first trimester of pregnancy for the treatment of vulvovaginal candidiasis. DESIGN: Population based cohort study. SETTING: A cohort of pregnancies publicly insured in the United States, with data from the nationwide Medicaid Analytic eXtract 2000-14. PARTICIPANTS: Pregnancies of women enrolled in Medicaid from three or more months before the last menstrual period to one month after delivery, and infants enrolled for three or more months after birth. INTERVENTIONS: Use of fluconazole and topical azoles was established by requiring one or more prescriptions during the first trimester of pregnancy. MAIN OUTCOME MEASURES: Risk of musculoskeletal malformations, conotruncal malformations, and oral clefts (primary outcomes), associated with exposure to oral fluconazole, diagnosed during the first 90 days after delivery, were examined. RESULTS: The study cohort of 1 969 954 pregnancies included 37 650 (1.9%) pregnancies exposed to oral fluconazole and 82 090 (4.2%) pregnancies exposed to topical azoles during the first trimester. The risk of musculoskeletal malformations was 52.1 (95% confidence interval 44.8 to 59.3) per 10 000 pregnancies exposed to fluconazole versus 37.3 (33.1 to 41.4) per 10 000 pregnancies exposed to topical azoles. The risks of conotruncal malformations were 9.6 (6.4 to 12.7) versus 8.3 (6.3 to 10.3) per 10 000 pregnancies exposed to fluconazole and topical azoles, respectively; risks of oral clefts were 9.3 (6.2 to 12.4) versus 10.6 (8.4 to 12.8) per 10 000 pregnancies, respectively. The adjusted relative risk after fine stratification of the propensity score was 1.30 (1.09 to 1.56) for musculoskeletal malformations, 1.04 (0.70 to 1.55) for conotruncal malformations, and 0.91 (0.61 to 1.35) for oral clefts overall. Based on cumulative doses of fluconazole, the adjusted relative risks for musculoskeletal malformations, conotruncal malformations, and oral clefts overall were 1.29 (1.05 to 1.58), 1.12 (0.71 to 1.77), and 0.88 (0.55 to 1.40) for 150 mg of fluconazole; 1.24 (0.93 to 1.66), 0.61 (0.26 to 1.39), and 1.08 (0.58 to 2.04) for more than 150 mg up to 450 mg of fluconazole; and 1.98 (1.23 to 3.17), 2.30 (0.93 to 5.65), and 0.94 (0.23 to 3.82) for more than 450 mg of fluconazole, respectively. CONCLUSIONS: Oral fluconazole use in the first trimester was not associated with oral clefts or conotruncal malformations, but an association with musculoskeletal malformations was found, corresponding to a small adjusted risk difference of about 12 incidents per 10 000 exposed pregnancies overall.


Assuntos
Antifúngicos/efeitos adversos , Candidíase Vulvovaginal/tratamento farmacológico , Fluconazol/efeitos adversos , Complicações Infecciosas na Gravidez/tratamento farmacológico , Anormalidades Induzidas por Medicamentos/epidemiologia , Administração Oral , Adulto , Antifúngicos/uso terapêutico , Candidíase Vulvovaginal/etnologia , Fissura Palatina/induzido quimicamente , Fissura Palatina/epidemiologia , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Síndrome de DiGeorge/induzido quimicamente , Síndrome de DiGeorge/epidemiologia , Feminino , Fluconazol/uso terapêutico , Humanos , Recém-Nascido , Anormalidades Musculoesqueléticas/induzido quimicamente , Anormalidades Musculoesqueléticas/epidemiologia , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Primeiro Trimestre da Gravidez , Risco , Sensibilidade e Especificidade , Estados Unidos/epidemiologia
8.
Radiol Clin North Am ; 58(3): 639-652, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32276708

RESUMO

Congenital entities sharing imaging characteristics with true pathologies occasionally are discovered incidentally in adults. These may occur in the neck, chest, abdomen/pelvis, or musculoskeletal systems. Although these incidental findings share imaging features with true pathologic processes, up-to-date knowledge and assessment with the most appropriate imaging modalities generally allow a distinction between congenital entities that may be safely dismissed and pathologic processes requiring further assessment and treatment. This article reviews several of the most common congenital processes that may present incidentally in adult patients mimicking disease. Emphasis is on findings that can be used to distinguish congenital process from true disease processes.


Assuntos
Branquioma/diagnóstico por imagem , Diagnóstico por Imagem/métodos , Achados Incidentais , Rim/anormalidades , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Anormalidades do Sistema Respiratório/diagnóstico por imagem , Timo/anormalidades , Timo/diagnóstico por imagem , Adulto , Criança , Humanos
11.
Instr Course Lect ; 69: 417-432, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32017743

RESUMO

Bone defects may occur after trauma, infection, or oncologic resection. A critical sized defect is any defect that is unable to spontaneously heal and will require secondary procedure(s) to obtain union. Autologous grafting is widely used, but may be insufficient to obtain union in these situations. Other options include the induced membrane technique, bone transport through distraction osteogenesis, or free vascularized bone transfer. This chapter will review options for obtaining graft, and the aforementioned special techniques for managing these challenging problems.


Assuntos
Anormalidades Musculoesqueléticas/terapia , Osteogênese por Distração , Transplante Ósseo , Humanos , Cicatrização
12.
Instr Course Lect ; 69: 625-640, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32017756

RESUMO

It is important to review the physics of current MRI developments in nontraumatic spinal imaging and their specific applications for assessing the bone marrow. Techniques include chemical shift imaging and its use in differentiating aggressive from benign lesions and in confirming the presence of diffuse red marrow conversion, which may mimic diffuse marrow infiltration in metastatic disease. The principles of dynamic contrast MRI and its uses in multiple myeloma and discriminating between postoperative change/scarring versus recurrence in soft-tissue tumors warrant discussion. The basic physics of diffusion-weighted imaging (DWI) in bone marrow pathologies are distinguished from the principles of DWI as applied to solid organs, and DWI is used in the staging of multiple myeloma and in differentiating between benign versus malignant compressive vertebral fractures. The orthopaedic surgeon should be knowledgeable about whole-body MRI principles and its uses in staging multiple myeloma and sarcoma. Knowledge about PET-MRI principles and its limitations as well as its potential use in assessing the subchondral bone plate and bony remodeling is also important. This technique may play a role in the future for predicting progression to osteoarthritis.


Assuntos
Medula Óssea/anormalidades , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Coluna Vertebral , Humanos , Imagem por Ressonância Magnética , Mieloma Múltiplo , Recidiva Local de Neoplasia , Fraturas da Coluna Vertebral
13.
J Clin Neurosci ; 72: 79-83, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31937500

RESUMO

Spinal vascular malformations are difficult to diagnose lesions that can be associated with significant permanent morbidity. The angioarchitecture of spinal vascular anatomy and the associated pathologies have only recently been illuminated by the advent of spinal angiography. However, conventional spinal digital subtraction angiography is often limited by significant variability, overlapping vessels, as well as an inability to understand the precise location of the nidus or fistula in relation to the spinal cord and spine. In this study, we present 4 unique cases wherein 3-dimensional rotational angiography (3DRA) with dual volume acquisition was useful in defining the anatomy of spinal fistulas as well as planning treatment.


Assuntos
Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Medula Espinal/diagnóstico por imagem , Coluna Vertebral/diagnóstico por imagem , Malformações Vasculares/diagnóstico por imagem , Angiografia Digital , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Anormalidades Musculoesqueléticas
14.
J Pediatr Orthop ; 40(4): e256-e265, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31923019

RESUMO

BACKGROUND: Congenital scoliosis due to hemivertebra of the cervicodorsal spine is a rare disorder. It might be accompanied by impaired cosmetic appearances such as head tilt and trunk shift. Little is known about the effect of correction of the major curve on head tilt and trunk shift in children. The purpose of this study was to assess radiographic changes of head tilt and trunk shift following posterior hemivertebra resection (PHVR). METHODS: Retrospectively, all children who underwent PHVR at the cervicodorsal spine (C6-Th6) with pedicle screw fixation with a minimum radiographic follow-up of 1 year were identified for further assessment. A total of 5 radiographic parameters were assessed on preoperative, postoperative, and final follow-up radiographs. (1) Head tilt was defined as the angle between the horizontal line and the line through both molars of the maxillary, (2) trunk shift as the angle between the line of the center of C7 to the sacrum and the central sacral vertical line, (3) Cobb angle was used to assess the major curve, (4) cranial, and (5) caudal compensatory curvature. RESULTS: Seven boys and 10 girls with a mean age of 9.0 years at surgery were evaluated. The mean radiographic follow-up was 89.5 months (range: 12 to 166 mo). The mean head tilt reoriented from 6.9 to 1.9 degrees (P<0.001); trunk shift improved from 4.3 to 2.5 degrees after surgery (P=0.100). There was a significant correlation between head tilt and trunk shift on preoperative and postoperative radiographs (P=0.030/0.031). The major curve, and compensatory curvatures were all significantly corrected (P<0.001). Head reorientation was significantly influenced by patient age at surgery. Repeated procedures due to decompensation of the compensatory curvature were performed in 2 cases. CONCLUSIONS: PHVR and pedicle screw fixation is an effective treatment for patients with congenital scoliosis. Surgery achieves a significant correction of the major curve and reorientation of the head postoperatively, and till the last follow-up. LEVEL OF EVIDENCE: Level IV.


Assuntos
Anormalidades Musculoesqueléticas , Escoliose , Fusão Vertebral , Criança , Feminino , Alemanha , Humanos , Masculino , Anormalidades Musculoesqueléticas/complicações , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Parafusos Pediculares , Radiografia/métodos , Estudos Retrospectivos , Escoliose/congênito , Escoliose/cirurgia , Fusão Vertebral/instrumentação , Fusão Vertebral/métodos , Resultado do Tratamento
15.
Ann Thorac Surg ; 109(1): e51-e53, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31207243

RESUMO

Complete congenital cleft sternum associated with pectus excavatum is a rare abnormality. Case reports and case series currently provide the technical standards for comparison in surgical repair. We present a case report of surgical repair of cleft sternum and anterior pericardial defect associated with pectus excavatum in a 13-year-old girl. The surgical repair of the cleft sternum and pectus excavatum was performed with a modified Ravitch procedure, closure of the defect with stainless steel wires, and insertion of a pectus bar. Preoperative imaging is important in better defining the defect.


Assuntos
Anormalidades Múltiplas/cirurgia , Tórax em Funil/cirurgia , Anormalidades Musculoesqueléticas/cirurgia , Esterno/anormalidades , Adolescente , Feminino , Tórax em Funil/complicações , Humanos , Anormalidades Musculoesqueléticas/complicações , Procedimentos Ortopédicos/métodos , Esterno/cirurgia
16.
J Craniofac Surg ; 31(3): 632-636, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31856136

RESUMO

The purpose of this study was to document changes in social perceptions and facial esthetics, and document occlusion outcomes in a series of short face (SF) dentofacial deformity (DFD) subjects. The investigators hypothesized that subjects would achieve positive change in social perceptions and facial esthetics, and maintain a long-term corrected occlusion after undergoing bimaxillary and chin osteotomies.A retrospective cohort study was implemented. Photographic records and occlusion parameters were studied preoperatively and >2 years after surgery. The first outcome variable was social perceptions of SF subjects, judged by laypersons. The second outcome variable was facial esthetics, judged by professionals. The third outcome variable was occlusion maintained long-term.Fifteen subjects met inclusion criteria. Mean age at operation was 33 years. Consistent facial contour deformities at presentation included deficient maxillary dental show and downturned oral commissures. As a group, there was improvement (P < 0.05) in 11 of 12 social perceptions, judged by laypersons, all subjects achieved correction of the facial esthetic parameters studied by professionals, and all subjects maintained a favorable occlusion long-term.In SF DFD subjects, bimaxillary and chin surgery proved effective to improve social perceptions, to correct facial contour deformities, and in achieving a long-term corrected occlusion.


Assuntos
Queixo/cirurgia , Deformidades Dentofaciais/cirurgia , Face/cirurgia , Maxila/cirurgia , Anormalidades Musculoesqueléticas/cirurgia , Adolescente , Adulto , Queixo/diagnóstico por imagem , Oclusão Dentária , Deformidades Dentofaciais/diagnóstico por imagem , Face/diagnóstico por imagem , Feminino , Humanos , Masculino , Maxila/diagnóstico por imagem , Pessoa de Meia-Idade , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Procedimentos Cirúrgicos Ortognáticos , Fotografação , Estudos Retrospectivos , Percepção Social , Cirurgia Plástica , Resultado do Tratamento , Adulto Jovem
17.
Rev Assoc Med Bras (1992) ; 65(10): 1249-1253, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31721956

RESUMO

OBJECTIVE: In this study, we intend to identify the prevalence of clinical variables in children with microcephaly. METHODS: This is a cross-sectional and observational study with data collected from medical records of patients admitted to the microcephaly outpatient clinic of a referral center in Teresina-PI. Demographic (gender and age) and clinical data (presence of epilepsy, dysphagia, irritability, and associated comorbidities) were collected. The frequency of Zika virus as a probable etiology was determined from computed tomography patterns and the exclusion of other etiologies by serological tests. RESULTS: A total of 67 patient records were evaluated, of which 31 were male and 36 were female, with a mean age of 1 year and 10 months. The most prevalent clinical variables were epilepsy, present in 47 children (70.2%), and irritability in 37 (55.2%). Also with a high frequency, 22 had dysphagia (32.8%), and 13 had musculoskeletal comorbidities (19.4%). Only three patients in the sample had cardiac abnormalities (4.5%), and no endocrine comorbidity was found. A total of 38 children in the sample (56.7%) presented ZIKV as a probable etiology and, in these cases, there was a higher frequency of epilepsy and dysphagia compared to other etiologies, although not statistically significant. CONCLUSION: Epilepsy, irritability, dysphagia, and musculoskeletal comorbidities were the most frequent clinical variables in children with microcephaly. There was a high prevalence of congenital ZIKV microcephaly syndrome in this sample.


Assuntos
Epilepsia/epidemiologia , Microcefalia/virologia , Anormalidades Musculoesqueléticas/epidemiologia , Complicações Infecciosas na Gravidez/epidemiologia , Infecção por Zika virus/epidemiologia , Brasil/epidemiologia , Pré-Escolar , Comorbidade , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Registros Médicos , Microcefalia/reabilitação , Gravidez , Complicações Infecciosas na Gravidez/etiologia , Prevalência , Centros de Reabilitação , Estudos Retrospectivos , Infecção por Zika virus/congênito , Infecção por Zika virus/reabilitação
18.
Probl Sotsialnoi Gig Zdravookhranenniiai Istor Med ; 27(Special Issue): 687-692, 2019 Aug.
Artigo em Russo | MEDLINE | ID: mdl-31747162

RESUMO

Today, in our country, as well as throughout the world, there is no single approach to the tactics of managing patients with deformations of the anterior chest wall. These patients constitute a large and heterogeneous group. The team acquired great experience in treating children with pectus excavatum and pectus carinatum, as well as a unique experience in the surgical treatment of pediatric thoracic outlet syndrome and sternum clefts. Now in the world there are a lot of surgical methods used for the correction of congenital deformities of the chest wall, however, the majority of them are extremely traumatic for the patient, and the postoperative scar often presents a minor cosmetic problem than the deformation itself. In addition, almost all methods require the use of expensive technologies, the patient's long hospital stay and the use of potent drugs. As for the children with thoracic outlet syndrome and sternum clefts, these patients are extremely difficult in terms of timely diagnosis and surgical care, due to the fact that pediatric surgeons and pediatricians are very little aware of this pathology. The team of authors developed a number of techniques, based on the collaborative work of surgeons, anesthesiology and resuscitation specialists and pediatric services. They resulted in successful surgical correction of these malformations and gave patients the opportunity to lead a normal life.


Assuntos
Tórax em Funil , Procedimentos Cirúrgicos Minimamente Invasivos , Anormalidades Musculoesqueléticas , Parede Torácica , Criança , Tórax em Funil/cirurgia , Humanos , Esterno , Tecnologia , Parede Torácica/cirurgia , Resultado do Tratamento
19.
Curr Opin Pediatr ; 31(6): 747-753, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31693582

RESUMO

PURPOSE OF REVIEW: To provide an update of vascular malformation syndromes by reviewing the most recent articles on the topic and following the new International Society for the Study of Vascular Anomalies (ISSVA) 2018 classification. RECENT FINDINGS: This review discusses the main features and diagnostic approaches of the vascular malformation syndromes, the new genetic findings and the new therapeutic strategies developed in recent months. SUMMARY: Some vascular malformations can be associated with other anomalies, such as tissue overgrowth. PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic mutations in PI3K-AKT-mTOR pathway that encompass a heterogeneous group of rare disorder that are associated with the appearance of overgrowth. CLOVES syndrome and Klippel-Trénaunay syndrome are PROS disease. Proteus syndrome is an overgrowth syndrome caused by a somatic activating mutation in AKT1. CLOVES, Klippel-Trénaunay and Proteus syndromes are associated with high risk of thrombosis and pulmonary embolism. Hereditary hemorrhagic telangiectasia is an autosomic dominant disorder characterized by the presence of arteriovenous malformations. New therapeutic strategies with bevacizumab and thalidomide have been employed with promising results.


Assuntos
Bevacizumab/uso terapêutico , Transtornos do Crescimento/genética , Anormalidades Musculoesqueléticas/diagnóstico , Anormalidades Musculoesqueléticas/tratamento farmacológico , Fosfatidilinositol 3-Quinases/genética , Talidomida/uso terapêutico , Malformações Vasculares/diagnóstico , Malformações Vasculares/tratamento farmacológico , Anormalidades Múltiplas , Classe I de Fosfatidilinositol 3-Quinases , Transtornos do Crescimento/complicações , Humanos , Anormalidades Musculoesqueléticas/genética , Mutação , Fosfatidilinositol 3-Quinase/metabolismo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Síndrome , Serina-Treonina Quinases TOR , Malformações Vasculares/genética
20.
Am J Med Genet C Semin Med Genet ; 181(4): 650-657, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31710779

RESUMO

Specific classes of de novo heterozygous gain-of-function pathogenic variants of the PDGFRB (platelet-derived growth factor receptor-beta) cause a distinctive overgrowth syndrome, named the Kosaki overgrowth syndrome (KOGS) (OMIM #616592). Until now, six patients with this condition have been reported in the literature. In addition to skeletal overgrowth, these patients exhibit hyperelastic, translucent, and fragile skin, scoliosis, progressive loss of subcutaneous adipose tissue, skull deformity, infantile myofibromas, neuropsychiatric symptoms, and arachnoid cysts in the posterior fossa and periventricular white matter signal abnormalities on neuroimaging. This constellation of phenotypes clearly distinguishes KOGS from other PDGFRB-related disorders, including idiopathic basal ganglia calcification, infantile myofibroma, and Penttinen-type premature aging syndrome. From a molecular standpoint, PDGFRB is a dimeric receptor tyrosine kinase that plays critical roles in cell growth and tumorigenesis. The two known types of pathogenic variants (p.(Pro584Arg) and p.(Trp566Arg)) of the PDGFRB that cause KOGS are exclusively located in the juxtaglomerular domain that regulates autoactivation/inhibition of PDGFRB. In-vitro evidence suggests that p.(Pro584Arg) represents a gain-of-function pathogenic variant. Inhibition of PDGFRB activity using multi-kinase inhibitors appears to be a potentially promising therapeutic approach. Investigation of the molecular mechanisms underlying the pathogenesis of this disease using induced pluripotent stem cells is under way. Presence of skeletal overgrowth, distinctive facial features, characteristic hyperelastic and fragile skin, and cerebral white matter lesions with neuropsychiatric symptoms should prompt genetic analysis of the PDGFRB.


Assuntos
Transtornos do Crescimento/genética , Receptor beta de Fator de Crescimento Derivado de Plaquetas/genética , Adolescente , Criança , Pré-Escolar , Feminino , Transtornos do Crescimento/diagnóstico por imagem , Transtornos do Crescimento/fisiopatologia , Humanos , Masculino , Anormalidades Musculoesqueléticas/genética , Desempenho Psicomotor , Síndrome , Adulto Jovem
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