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1.
Pediatr Surg Int ; 40(1): 105, 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38602580

RESUMO

BACKGROUND: Sternal cleft (SC), a rare thoracic malformation, is associated with pectus excavatum (PE) in 2.6-5% of cases. It remains unclear if these conditions are congenitally linked or if SC repair triggers PE. To investigate the potential higher frequency of PE in SC cases, we conducted a retrospective study of our SC patients. METHODS: We assessed PE incidence, progression, and management in SC patients treated at our institute from 2006 to 2022. When available, we collected pre-SC repair CT scan data, calculating the Haller Index (HI) and Correction Index (CI) and compared them to a selected control group. RESULTS: Among 8 SC patients, 7 had concomitant PE (87.5%), varying in severity. PE management ranged from observation to thoracoplasty, depending on its degree. We observed a significant pre-operative CI difference between SC and control group patients (p < 0.00001). In the last two SC repair cases, we attempted concurrent PE prevention or treatment. CONCLUSION: Our findings suggest an underestimated association between PE and SC in the existing literature. SC patients may exhibit a predisposition to PE from birth, which may become more apparent with growth after SC repair. Consequently, PE prevention or treatment should be considered during SC repair procedures.


Assuntos
Tórax em Funil , Anormalidades Musculoesqueléticas , Esterno/anormalidades , Humanos , Tórax em Funil/complicações , Tórax em Funil/diagnóstico por imagem , Tórax em Funil/epidemiologia , Estudos Retrospectivos , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Anormalidades Musculoesqueléticas/epidemiologia , Anormalidades Musculoesqueléticas/cirurgia , Genótipo
2.
Am J Med Genet A ; 185(5): 1486-1493, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33683002

RESUMO

The RASopathies are a group of similar genetic syndromes with cardiovascular abnormalities, characteristic facial features, short stature, abnormalities of the skin and musculoskeletal system, and variable neurodevelopmental challenges. The most common cardiovascular abnormalities include pulmonary valvular stenosis and hypertrophic cardiomyopathy. Congenital polyvalvular disease (CPVD) refers to congenital dysplasia of two or more cardiac valves. We diagnosed a RASopathy in two individuals with CPVD and noted that CPVD in RASopathies has rarely been reported in the literature. Thus, we performed a retrospective chart review and literature review to investigate the association and characterize the phenotype of CPVD in the RASopathies. CPVD was present in 2.5% (n = 6/243) of individuals in our RASopathy cohort. Involvement of two cardiac valves, commonly the aortic and pulmonic valves, was seen in the majority of individuals (6/8; 75%) in our cohort, but only 27% (3/11) of reported CPVD and RASopathy cases in the literature. CPVD should be considered an associated cardiovascular phenotype of the RASopathies, which has implications for diagnosis and management.


Assuntos
Cardiomiopatia Hipertrófica/genética , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Proteínas Proto-Oncogênicas B-raf/genética , Estenose da Valva Pulmonar/genética , Adolescente , Valva Aórtica/patologia , Cardiomiopatia Hipertrófica/epidemiologia , Cardiomiopatia Hipertrófica/patologia , Anormalidades Cardiovasculares/epidemiologia , Anormalidades Cardiovasculares/genética , Anormalidades Cardiovasculares/patologia , Criança , Pré-Escolar , Nanismo/genética , Nanismo/patologia , Fácies , Feminino , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Anormalidades Musculoesqueléticas/epidemiologia , Anormalidades Musculoesqueléticas/genética , Anormalidades Musculoesqueléticas/patologia , Síndrome de Noonan , Fenótipo , Estenose da Valva Pulmonar/epidemiologia , Estenose da Valva Pulmonar/patologia , Anormalidades da Pele/genética , Anormalidades da Pele/patologia , Proteínas ras/genética
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 , Procedimentos de Cirurgia Plástica/estatística & dados numéricos , Polidactilia/diagnóstico , Polidactilia/cirurgia , 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.
Am J Med Genet A ; 182(5): 953-956, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32128942

RESUMO

Wiedemann-Steiner syndrome (WWS) is a rare disorder characterized by hypotonia, postnatal growth restriction, striking facial dysmorphism, and hirsutism. It is caused by heterozygous pathogenic variants in KMT2A. This gene has an established role in histone methylation, which explains the overlap of WWS with syndromes caused by genes involved in chromatin remodeling. We describe an infant with a novel single base pair deletion in KMT2A with features consistent with WWS, as well as additional features of stenosis of aqueduct of Sylvius and broad toes. The usefulness of Face2Gene as a tool for identification of dysmorphology syndromes is discussed, as in this patient, it suggested WWS as the top candidate disorder. To the best of our knowledge, this is the first patient of WWS reported from India, with a novel genotype and expanded phenotype.


Assuntos
Anormalidades Múltiplas/genética , Contratura/genética , Transtornos do Crescimento/genética , Histona-Lisina N-Metiltransferase/genética , Deficiência Intelectual/genética , Microcefalia/genética , Anormalidades Musculoesqueléticas/genética , Proteína de Leucina Linfoide-Mieloide/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/fisiopatologia , Contratura/diagnóstico , Contratura/epidemiologia , Contratura/fisiopatologia , Fácies , Feminino , Genótipo , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/fisiopatologia , Heterozigoto , Humanos , Índia/epidemiologia , Lactente , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/fisiopatologia , Masculino , Microcefalia/diagnóstico , Microcefalia/epidemiologia , Microcefalia/fisiopatologia , Anormalidades Musculoesqueléticas/diagnóstico , Anormalidades Musculoesqueléticas/epidemiologia , Anormalidades Musculoesqueléticas/fisiopatologia , Mutação/genética , Fenótipo
5.
Spine (Phila Pa 1976) ; 45(6): 390-396, 2020 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-31593057

RESUMO

STUDY DESIGN: A cross-sectional study. OBJECTIVE: This study investigates the prevalence of incidental vertebral marrow signal abnormality (VMSA) in thoracolumbar spine magnetic resonance imaging (MRI) ordered for the evaluation of back and/or leg pain and assess the clinical work-up for VMSAs. SUMMARY OF BACKGROUND DATA: Patients presenting with back pain are often referred for spine MRI for diagnostic evaluation. VMSA is most frequently found in the lumbar spine and is of clinical concern because it can represent malignancy. Standardized procedures for reporting and managing VMSAs do not exist. METHODS: The radiology database at the Oregon Health & Science University health system was queried to identify patients with thoracolumbar spine MRI scans performed between January 2014 and June 2016. Patients 16 years or older with MRIs ordered by providers at a multidisciplinary spine specialty clinic for the diagnostic evaluation of back and/or leg pain were included. Radiology reports were searched for keywords pertaining to VMSAs, such as "malignancy." Medical records of these patients were further reviewed for the clinical work-up and final diagnoses pertaining to the VMSA. RESULTS: The study sample included 1503 individual patients, of whom 65 (4%) had MRI radiology reports that described a VMSA. Thirty-one (48%) of the 65 patients with VMSAs had further evaluation recommended by radiology. Ten (32%) of these 31 patients were followed clinically without further diagnostic testing for the VMSA. Of the 65 patients with VMSAs, only one was diagnosed with malignancy (multiple myeloma). CONCLUSION: While VMSAs are not frequently found on thoracolumbar MRIs ordered to evaluate back and/or leg pain, there is a large amount of heterogeneity in how these abnormalities are documented and managed. This may indicate the need for clinical guidelines for the reporting and management of VMSAs detected on spine MRI and for improvement in communication between radiologists and ordering providers. LEVEL OF EVIDENCE: 3.


Assuntos
Medula Óssea/diagnóstico por imagem , Doenças do Tecido Conjuntivo/diagnóstico por imagem , Achados Incidentais , Vértebras Lombares/diagnóstico por imagem , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Vértebras Torácicas/diagnóstico por imagem , Adulto , Idoso , Dor nas Costas/diagnóstico por imagem , Dor nas Costas/etiologia , Doenças do Tecido Conjuntivo/complicações , Doenças do Tecido Conjuntivo/epidemiologia , Estudos Transversais , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Anormalidades Musculoesqueléticas/complicações , Anormalidades Musculoesqueléticas/epidemiologia , Prevalência
6.
Rev. Assoc. Med. Bras. (1992) ; 65(10): 1249-1253, Oct. 2019. tab
Artigo em Inglês | LILACS | ID: biblio-1041030

RESUMO

SUMMARY 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.


RESUMO OBJETIVO Pretende-se, neste estudo, identificar a prevalência de variáveis clínicas em crianças com microcefalia. MÉTODOS Trata-se de um estudo transversal e observacional com dados coletados de prontuários de pacientes admitidos no ambulatório de microcefalia de um centro de referência em Teresina (PI). Foram coletados dados demográficos (gênero Ve idade) e clínicos (presença de epilepsia, disfagia, irritabilidade e comorbidades associadas). A frequência de Zika vírus como provável etiologia foi determinada a partir de padrões da tomografia computadorizada e da exclusão de outras etiologias por exames sorológicos. RESULTADOS Foram avaliados 67 prontuários de pacientes, sendo 31 do sexo masculino e 36 do sexo feminino, com idade média de 1 ano e 10 meses. As variáveis clínicas mais prevalentes foram epilepsia, presente em 47 das crianças (70,2%), e irritabilidade, em 37 (55,2%). Também com elevada frequência, 22 possuíam quadro de disfagia (32,8%) e 13 apresentavam comorbidades osteomusculares (19,4%). Apenas três pacientes da amostra tinham quadro de alterações cardiológicas (4,5%) e nenhuma comorbidade endocrinológica foi encontrada. Trinta e oito crianças da amostra (56,7%) apresentaram ZIKV como provável etiologia e, nesses casos, houve maior frequência de epilepsia e disfagia em comparação com outras etiologias, embora não de forma significativa estatisticamente. CONCLUSÕES Epilepsia, irritabilidade, disfagia e comorbidades osteomusculares foram as variáveis clínicas mais frequentes em crianças com microcefalia. Houve uma prevalência alta de síndrome de microcefalia congênita por ZIKV nessa amostra.


Assuntos
Humanos , Masculino , Feminino , Gravidez , Lactente , Pré-Escolar , Adulto Jovem , Complicações Infecciosas na Gravidez/epidemiologia , Epilepsia/epidemiologia , Infecção por Zika virus/epidemiologia , Microcefalia/virologia , Anormalidades Musculoesqueléticas/epidemiologia , Complicações Infecciosas na Gravidez/etiologia , Centros de Reabilitação , Anormalidades Congênitas/etiologia , Anormalidades Congênitas/epidemiologia , Brasil , Comorbidade , Prontuários Médicos , Prevalência , Estudos Transversais , Estudos Retrospectivos , Infecção por Zika virus/congênito , Infecção por Zika virus/reabilitação , Microcefalia/reabilitação
7.
J Pediatr Orthop ; 39(8): e608-e613, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31393300

RESUMO

BACKGROUND: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. METHODS: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. OUTCOME MEASURES: Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. RESULTS: Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. CONCLUSIONS: Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating perioperative complications if not detected preoperatively, and full MRI workups should be considered in all patients with spinal abnormalities. LEVEL OF EVIDENCE: Level III.


Assuntos
Comunicação Interatrial/epidemiologia , Atresia Intestinal/epidemiologia , Anormalidades Musculoesqueléticas/epidemiologia , Defeitos do Tubo Neural/epidemiologia , Escoliose/epidemiologia , Coluna Vertebral/anormalidades , Adolescente , Criança , Pré-Escolar , Comorbidade , Anormalidades Congênitas/epidemiologia , Bases de Dados Factuais , Humanos , Incidência , Lactente , Recém-Nascido , Intestino Grosso/anormalidades , Rim/anormalidades , Nefropatias/congênito , Nefropatias/epidemiologia , Síndrome de Klippel-Feil/epidemiologia , Prevalência , Estudos Retrospectivos , Adulto Jovem
8.
BMC Res Notes ; 12(1): 495, 2019 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-31399144

RESUMO

OBJECTIVE: Although infant mortality because of birth defect has increased in both developed and developing countries, had not got attention like other health issues at national, regional, or local levels. Documenting the risk factors that influence the occurrence of birth defects and its seasonality will help to inform the community and to develop preventive strategies for the country. RESULTS: Factors associated with higher likelihood of a major structural birth defects included maternal age; neonates born from women living in urban; and in Dega; history of fever during pregnancy; intake of herbal medicine; and drinking alcohol. Counselling for pregnancy preparation and folic acid supplementation was found protective for the likelihood of birth defect.


Assuntos
Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Anormalidades Congênitas/epidemiologia , Anormalidades Musculoesqueléticas/epidemiologia , Defeitos do Tubo Neural/epidemiologia , Adulto , Consumo de Bebidas Alcoólicas/efeitos adversos , Estudos de Casos e Controles , Fenda Labial/etiologia , Fenda Labial/prevenção & controle , Fissura Palatina/etiologia , Fissura Palatina/prevenção & controle , Anormalidades Congênitas/etiologia , Anormalidades Congênitas/prevenção & controle , Países em Desenvolvimento , Suplementos Nutricionais , Etiópia/epidemiologia , Feminino , Febre/complicações , Ácido Fólico/administração & dosagem , Humanos , Lactente , Recém-Nascido , Masculino , Idade Materna , Anormalidades Musculoesqueléticas/etiologia , Anormalidades Musculoesqueléticas/prevenção & controle , Defeitos do Tubo Neural/etiologia , Defeitos do Tubo Neural/prevenção & controle , Parto , Gravidez , Encaminhamento e Consulta , Fatores de Risco , Estações do Ano , População Urbana
9.
J Vasc Surg Venous Lymphat Disord ; 6(4): 511-516, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29909856

RESUMO

OBJECTIVE: Patients with Klippel-Trénaunay syndrome (KTS) and congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal abnormalities (CLOVES) syndrome have central phlebectasia and enlarged persistent embryonic veins that are often incompetent and prone to thromboembolism. The purpose of the study was to determine the presence of phlebectasia and the incidence of symptomatic pulmonary embolism (PE). METHODS: A retrospective review was conducted of patients referred to the Vascular Anomalies Center at our institution during a 21-year period who were diagnosed with KTS and CLOVES syndrome. Of these, the patients who had PE were screened for thromboembolic risk factors in addition to phlebectasia and the presence of persistent embryonic veins. Treatment outcomes following subsequent endovascular and medical therapies were reported. RESULTS: A total of 12 KTS patients of 96 (12.5%) and 10 CLOVES syndrome patients of 110 (9%) suffered PE. Fourteen patients (64%) developed PE after surgery or sclerotherapy. All of the patients had abnormally dilated central or persistent embryonic veins; 20 patients were treated with anticoagulation (1 died at the time of presentation, and no information was available for 1) after PE, and 14 (66%) patients underwent subsequent endovascular treatment. Five patients developed recurrent PE despite anticoagulation. Two of the patients died of PE. No patients treated with endovascular closure of dilated veins had subsequent evidence of PE. CONCLUSIONS: Patients with KTS and CLOVES syndrome are at high risk for PE, particularly in the postoperative period.


Assuntos
Síndrome de Klippel-Trenaunay-Weber/epidemiologia , Lipoma/epidemiologia , Anormalidades Musculoesqueléticas/epidemiologia , Nevo/epidemiologia , Embolia Pulmonar/epidemiologia , Varizes/epidemiologia , Malformações Vasculares/epidemiologia , Veias/anormalidades , Adolescente , Adulto , Anticoagulantes/uso terapêutico , Boston/epidemiologia , Criança , Pré-Escolar , Protocolos Clínicos , Angiografia por Tomografia Computadorizada , Dilatação Patológica , Procedimentos Endovasculares/efeitos adversos , Feminino , Humanos , Incidência , Lactente , Síndrome de Klippel-Trenaunay-Weber/diagnóstico , Síndrome de Klippel-Trenaunay-Weber/terapia , Lipoma/diagnóstico , Lipoma/terapia , Masculino , Anormalidades Musculoesqueléticas/diagnóstico , Anormalidades Musculoesqueléticas/terapia , Nevo/diagnóstico , Nevo/terapia , Flebografia/métodos , Embolia Pulmonar/diagnóstico por imagem , Embolia Pulmonar/terapia , Estudos Retrospectivos , Fatores de Risco , Escleroterapia/efeitos adversos , Fatores de Tempo , Varizes/diagnóstico por imagem , Varizes/terapia , Malformações Vasculares/diagnóstico , Malformações Vasculares/terapia , Procedimentos Cirúrgicos Vasculares/efeitos adversos , Veias/diagnóstico por imagem , Adulto Jovem
10.
J Hand Surg Am ; 43(5): 455-463, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29602650

RESUMO

Despite their relatively low prevalence in the population, anomalous muscles of the forearm may be encountered by nearly all hand and wrist surgeons over the course of their careers. We discuss 6 of the more common anomalous muscles encountered by hand surgeons: the aberrant palmaris longus, anconeus epitrochlearis, palmaris profundus, flexor carpi radialis brevis, accessory head of the flexor pollicis longus, and the anomalous radial wrist extensors. We describe the epidemiology, anatomy, presentation, diagnosis, and treatment of patients presenting with an anomalous muscle. Each muscle often has multiple variations or subtypes. The presence of most anomalous muscles is difficult to diagnose based on patient history and examination alone, given that symptoms may overlap with more common pathologies. Definitive diagnosis typically requires soft tissue imaging or surgical exploration. When an anomalous muscle is present and symptomatic, it often requires surgical excision for symptom resolution.


Assuntos
Antebraço/anatomia & histologia , Músculo Esquelético/anormalidades , Humanos , Anormalidades Musculoesqueléticas/diagnóstico , Anormalidades Musculoesqueléticas/epidemiologia , Exame Físico
11.
J Hand Surg Asian Pac Vol ; 22(4): 484-489, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29117832

RESUMO

BACKGROUND: Palmaris Longus is being widely used in reconstructive, plastic and cosmetic surgeries due to its long tendon. It is the most readily available source for tendon grafting. The objective of this study was to determine the prevalence of absence of Palmaris Longus and its association with gender, hand dominance and absence of FDS (flexor digitorum superficialis) tendon to little finger among Malay population. METHODS: An analytical cross sectional study design was used and a self-administered proforma was distributed for data collection. 1239 Malay secondary school children in Putrajaya were tested for absence of Palmaris Longus using Schaffer's test. 4 additional tests namely Thompson's test, Mishra's test I, Mishra's test II and Pushpakumar's 'two-finger sign' method were used to confirm its absence in respondents with negative Schaffer's test. Function of Flexor Digitorum Superficialis tendon to little finger was determined by flexing PIP of little finger while hyperextend the other fingers. RESULTS: The prevalence of absence of Palmaris Longus was 11.7%. Left side absence of Palmaris Longus was much common. There was a significant association between absence of Palmaris Longus with gender in which female had higher prevalence of absence of Palmaris Longus than male. CONCLUSIONS: In conclusion, the prevalence of absence of Palmaris Longus in Malay population was lower than Indian but higher than Chinese population. Females had higher prevalence of absence of Palmaris Longus and no association can be found with hand dominance and absence of Flexor Digitorum Superficialis tendon to little finger.


Assuntos
Dedos/anormalidades , Músculo Esquelético/anormalidades , Anormalidades Musculoesqueléticas/epidemiologia , Tendões/anormalidades , Adolescente , Estudos Transversais , Feminino , Lateralidade Funcional , Humanos , Malásia/epidemiologia , Masculino , Músculo Esquelético/cirurgia , Anormalidades Musculoesqueléticas/diagnóstico , Anormalidades Musculoesqueléticas/cirurgia , Exame Físico , Prevalência , Amplitude de Movimento Articular , Procedimentos de Cirurgia Plástica/métodos , Punho/fisiopatologia
12.
J Am Acad Dermatol ; 77(5): 874-878, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28822558

RESUMO

BACKGROUND: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for Wilms tumor. OBJECTIVE: To evaluate the frequency of Wilms tumor in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and macrocephaly-capillary malformation (M-CM). METHODS: Culling our Vascular Anomalies Center database, we retrospectively reviewed patients in whom DCMO and M-CM had been diagnosed and who were evaluated between 1998 and 2016 for possible development of Wilms tumor. Patients younger than 8 years of age at their last visit and not seen in more than 2 years were contacted for follow-up. RESULTS: The study comprised 89 patients: 67 with DCMO, 17 with M-CM, and 5 with an indeterminate diagnosis. No case of Wilms tumor was found in these groups. LIMITATIONS: Some patients were younger than 8 years of age at last follow-up visit and the sample size was small. CONCLUSION: Patients with DCMO do not appear to be at increased risk for Wilms tumor. Screening is probably unnecessary in DCMO unless there is associated hemihypertrophy. Although there were no cases in our cohort, there are 2 reports of M-CM associated with Wilms tumor in the literature.


Assuntos
Anormalidades Múltiplas/epidemiologia , Capilares/anormalidades , Neoplasias Renais/epidemiologia , Megalencefalia/epidemiologia , Dermatopatias Vasculares/epidemiologia , Telangiectasia/congênito , Malformações Vasculares/epidemiologia , Tumor de Wilms/epidemiologia , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/patologia , Distribuição por Idade , Capilares/diagnóstico por imagem , Capilares/patologia , Pré-Escolar , Estudos de Coortes , Comorbidade , Bases de Dados Factuais , Feminino , Seguimentos , Humanos , Incidência , Lactente , Recém-Nascido , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/patologia , Lipoma/diagnóstico por imagem , Lipoma/epidemiologia , Lipoma/patologia , Imageamento por Ressonância Magnética , Masculino , Megalencefalia/diagnóstico por imagem , Megalencefalia/patologia , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Anormalidades Musculoesqueléticas/epidemiologia , Anormalidades Musculoesqueléticas/patologia , Triagem Neonatal , Nevo/diagnóstico por imagem , Nevo/epidemiologia , Nevo/patologia , Doenças Raras , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Distribuição por Sexo , Dermatopatias Vasculares/diagnóstico por imagem , Dermatopatias Vasculares/patologia , Telangiectasia/diagnóstico por imagem , Telangiectasia/epidemiologia , Telangiectasia/patologia , Fatores de Tempo , Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/patologia , Tumor de Wilms/diagnóstico por imagem , Tumor de Wilms/patologia
13.
Pediatr Surg Int ; 33(8): 875-882, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28612139

RESUMO

PURPOSE: This study was undertaken to investigate the types of anorectal malformations (ARM), incidence of associated abnormalities and investigative methods used in patients treated at Red Cross War Memorial Children's Hospital and to determine whether these are in keeping with recent literature. Mortality rates were also reviewed. METHODS: A retrospective review of patients with ARM between 1993 and 2016 was undertaken. Clinical notes were reviewed and correlated with radiology and cardiac databases. Abnormalities were grouped according to genitourinary, musculoskeletal, gastrointestinal and cardiovascular systems. The data were separated into three periods to ascertain whether the workup strategy had changed over the years. RESULTS: A total of 282 patients were included. There were 134 (47.5%) high and 116 (41.1%) low lesions and unspecified in 32 (11.3%) patients. There were 59 (20.9%) vestibular fistulae, 46 (16.3%) combined rectourethral fistulae (rectoprostatic, rectobulbar and unspecified rectourethral) and 42 (14.9%) perineal fistulae. Associated abnormalities were detected in 152/221 (69%). Abnormalities were: Genitourinary 88/204 (43.1%), musculoskeletal 80/188 (42.5%), cardiac 44/218 (20.1%) and gastrointestinal 12/216 (5.6%). Twenty patients demised. CONCLUSION: Vestibular fistulae were most common followed by rectourethral and perineal fistulae. Musculoskeletal and genitourinary abnormalities were the most common associated findings. The mortality rate was 7% and cardiac lesions contributed to mortality. As knowledge of ARM improved, so has awareness of associated malformations. This has led to improved, more active workup, in keeping with the latest literature.


Assuntos
Anormalidades Múltiplas/epidemiologia , Malformações Anorretais/epidemiologia , Anormalidades Cardiovasculares/epidemiologia , Trato Gastrointestinal/anormalidades , Anormalidades Musculoesqueléticas/epidemiologia , Anormalidades Urogenitais/epidemiologia , Pré-Escolar , Comorbidade , Feminino , Humanos , Incidência , Lactente , Masculino , Estudos Retrospectivos , África do Sul/epidemiologia
14.
Surg Today ; 47(7): 872-876, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28028638

RESUMO

PURPOSE: To investigate the long-term morbidity of surgically treated esophageal atresia (EA) in adolescents and young adults and establish whether these long-term morbidities are affected by the type of EA. PATIENTS AND METHODS: We reviewed the medical records, including backgrounds and associated conditions, of 69 long-term survivors of EA, aged >15 years. The long-term morbidities included neurodevelopmental abnormality, nutritional impairment (short height <-2SD, low BMI <18.5), subjective symptoms, and musculoskeletal deformities. Comparisons of the results were made between Gross A-type EA (n = 6) and Gross C-type EA (n = 63). RESULTS: All patients underwent esophageal anastomosis without esophageal replacement. Cardiac anomalies and long gap were present in 26 and 18%, respectively. Esophageal dilatation, fundoplication, and aortopexy were performed in 40, 34, and 18%, respectively. The incidence of long gap and esophageal stenosis was higher in Gross A-type EA than in Gross C-type EA. The long-term morbidities included neurodevelopmental abnormality (13%), nutritional impairment (62%: as short height in 34% and as low BMI in 46%), subjective symptoms (14%), and musculoskeletal deformities (59%). There were no differences in the long-term morbidities between Gross A and Gross C. CONCLUSIONS: The incidence of the long-term morbidities is high in adolescents and young adults, regardless of the type of EA. Early detection of morbidity is important to improve the long-term outcomes of EA.


Assuntos
Procedimentos Cirúrgicos do Sistema Digestório , Atresia Esofágica/epidemiologia , Atresia Esofágica/cirurgia , Anormalidades Musculoesqueléticas/epidemiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Distúrbios Nutricionais/epidemiologia , Adolescente , Anastomose Cirúrgica , Atresia Esofágica/classificação , Feminino , Fundoplicatura , Cardiopatias Congênitas/epidemiologia , Humanos , Incidência , Masculino , Morbidade , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
15.
Rev. bras. med. trab ; 14(1)jan.-abr. 2016. graf, tab
Artigo em Português | LILACS | ID: lil-779360

RESUMO

Introdução: É evidente a preocupação do governo em regulamentar as ações relacionadas à saúde. É passível de aposentadoria por invalidez o servidor acometido de espondilite anquilosante e outras doenças osteomusculares. Objetivo: Descrever o perfil de morbidade por patologias osteomusculares dos servidores públicos do município de São Luís aposentados por invalidez. Materiais e Métodos: Trata-se de um estudo observacional, descritivo e retrospectivo, de 60 fichas de funcionários contendo informações registradas pela Comissão de Perícia Médica no período de janeiro de 2009 a dezembro de 2011. Calculou-se como indicador de impacto da aposentadoria por invalidez em doenças osteomusculares os somatórios dos anos perdidos em decorrência da aposentadoria. A condução do estudo recebeu anuência da Comissão de Perícia Médica do IPAM e dos funcionários por meio do Termo de Compromisso de Utilização de Prontuários e Termo de Consentimento Livre e Esclarecido. Resultados: A análise de aposentadoria por invalidez em razão do diagnóstico por patologias osteomusculares demonstra que ocorreu prevalência do sexo masculino (90,00%) na faixa etária de 61 a 65 anos, e as profissões mais acometidas foram professores e agente administrativo. As patologias osteomusculares ocorreram em 10,00% da amostra do estudo, e os profissionais que mais se aposentaram por invalidez tipo integral e/ou proporcional foram agente administrativo e auxiliar de serviços gerais. Conclusão: O estudo mostra a necessidade de promoção de saúde e vigilância em relação à saúde do trabalhador, propiciando melhores condições de trabalho e reduzindo o adoecimento dos servidores, diminuindo o número de aposentadoria por invalidez por patologias osteomusculares.


Background: It is clear the concern of governments to discipline the actions related to health. It is likely to disability retirement the server stricken with ankylosing spondylitis and other musculoskeletal diseases. Objective: Describe the morbidity profile for musculoskeletal pathologies of public in São Luís retired due to disability. Materials and Methods: This was an observational, descriptive and retrospective, study of 60 employee records containing information recorded by the Commission of Forensic Medicine between January 2009 and December 2011. The sums of years lost due to retirement were calculated as an indicator of the impact of disability retirement in musculoskeletal diseases. The conduct of the study received approval from the Commission of Forensic Medicine Division of IPAM and staff through the Commitment Term Use of Medical Records and Statement of Consent. Results: The analysis of disability retirement due to musculoskeletal disorders diagnosis shows that occurred primarily in men (90.00%) aged 61 ? 65 years, and the professionals most affected were teachers and administrative agent. The musculoskeletal disorders occurred in 10.00% of the study sample, and the most retired for disability integral type and/or proportional were administrative agent and assistant general services. Conclusion: The study shows the need for health promotion and surveillance in relation to workers' health, providing better working conditions and reducing illness among servers, reducing the number of disability pension for musculoskeletal pathologies.


Assuntos
Aposentadoria , Seguro por Deficiência , Anormalidades Musculoesqueléticas/epidemiologia , Doenças Profissionais , Brasil , Epidemiologia Descritiva , Estudos Retrospectivos , Empregados do Governo
16.
J Med Assoc Thai ; 99(11): 1215-9, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29901937

RESUMO

Background: Extensor hallucis capsularis is an accessory extensor tendon that is sporadically observed at the medial side of the extensor hallucis longus tendon. Knowledge regarding frequency of occurrence and size of the tendon may help surgeons decide whether to use this tendon or not when tendon graft is needed during foot surgery. Conclusion: Extensor hallucis capsularis tendon was found in the vast majority of cadavers evaluated in this study. Most originated from the extensor hallucis longus tendon and inserted into the first metatarsophalangeal joint capsule. Application of this tendon as a tendon graft should be carefully considered due to variations of the length and the narrow width which may limited strength of this tendon graft. Objective: To evaluate the frequency, size, origin, and insertion of the extensor hallucis capsularis tendon in cadaveric study subjects. Material and Method: Extensor hallucis capsularis tendon was examined via dissection of 55 cadaveric feet. Thirty-six male and 19 female cadavers were included, with an age range of 33 to 90 years (mean 67.3±14.0). One foot from each study subject was dissected and evaluated (29 left feet and 26 right feet). Demographic data (gender, age, and height) and outcome data (frequency, origin, insertion, length, and width of the tendon) were recorded. Tendon measurement reliability was evaluated by intraclass correlation coefficient. Results: Extensor hallucis capsularis tendon was found in 90.9% of cadaveric subjects. Mean tendon length and width was 11.3±4.0 cm and 1.6±0.6 mm, respectively. Most tendons branched from the extensor hallucis longus tendon and attached to the first metatarsophalangeal joint capsule. Conclusion: Extensor hallucis capsularis tendon was found in the vast majority of cadavers evaluated in this study. Most originated from the extensor hallucis longus tendon and inserted into the first metatarsophalangeal joint capsule. Application of this tendon as a tendon graft should be carefully considered due to variations of the length and the narrow width which may limited strength of this tendon graft.


Assuntos
Tornozelo , Articulação Metatarsofalângica , Anormalidades Musculoesqueléticas , Tendões , Adulto , Idoso , Idoso de 80 Anos ou mais , Tornozelo/patologia , Tornozelo/cirurgia , Feminino , Humanos , Masculino , Articulação Metatarsofalângica/anatomia & histologia , Articulação Metatarsofalângica/patologia , Articulação Metatarsofalângica/cirurgia , Pessoa de Meia-Idade , Anormalidades Musculoesqueléticas/epidemiologia , Anormalidades Musculoesqueléticas/patologia , Tendões/anormalidades , Tendões/patologia , Tendões/cirurgia
18.
Yonsei Med J ; 56(3): 753-9, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25837182

RESUMO

PURPOSE: The aim of the study was to investigate and analyze bilateral incidence and morphology of complete discoid lateral meniscus (DLM) with possible relation to tears and symptoms in knee joints. MATERIALS AND METHODS: Thirty-eight consecutive patients with symptomatic or already-torn complete DLM on magnetic resonance imaging in a unilateral knee underwent diagnostic arthroscopy on both knee joints upon agreement. The presence and shape of complete DLM as well as presence and pattern of tear were recorded accordingly. RESULTS: In total, 89.5% (34 of 38 patients) showed bilateral complete DLM, and 84.2% yielded bilateralism with identical shape. Cape-slab was the most frequent shape, comprising 68.8% of patients with identically-shaped bilateral DLM overall. Tear patterns were more frequent, in the order of longitudinal, simple horizontal, radial, and degenerative; however, the morphological shape of complete DLM was not significantly related to tear incidence or pattern. Meniscus tears and knee symptoms occurred in the contralateral knee with incidences of 32.4% and 26.5% in patients with bilateral complete DLM, respectively. CONCLUSION: Based on these findings, more aggressive warning on the presence of discoid pathology and the need for evaluation on the contralateral knee should be considered during consultation with patients with symptomatic complete DLM in a unilateral knee in the outpatient clinic.


Assuntos
Artroscopia/métodos , Articulação do Joelho/patologia , Anormalidades Musculoesqueléticas/cirurgia , Lesões do Menisco Tibial , Adolescente , Adulto , Feminino , Humanos , Incidência , Imageamento por Ressonância Magnética/métodos , Masculino , Meniscos Tibiais/cirurgia , Pessoa de Meia-Idade , Anormalidades Musculoesqueléticas/complicações , Anormalidades Musculoesqueléticas/diagnóstico , Anormalidades Musculoesqueléticas/epidemiologia , Estudos Retrospectivos , Adulto Jovem
19.
Eur Spine J ; 24(7): 1510-21, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25733202

RESUMO

PURPOSE: To investigate vertebral, rib and intraspinal anomalies in patients with congenital scoliosis and their association with each other METHODS: Clinical data and preoperative imaging studies of 202 Caucasians with congenital scoliosis operated on at an educational hospital within 6 years were reviewed for vertebral, rib, and intraspinal anomalies. RESULTS: Rib and intraspinal anomalies were present in 57.4 and 21.8 % of patients, respectively. Most vertebral anomalies were located in the middle-lower thorax. Being the most common vertebral defect (53.5 %), failure of segmentation was significantly more common in males, whereas mixed defects were more frequent in females. Formation and mixed defects were associated with rib changes. Vertebral anomalies were more extensive in males than in females. The presence of multiple hemivertebrae was associated with rib deformity and intraspinal anomaly. Location of the vertebral anomalies varied with gender and rib involvement. Majority of rib changes were of simple type (70.7 %), significantly more common in males. Conversely, females had significantly more fused and bifid ribs. Two most common intraspinal anomalies were diastematomyelia (36.4 %) and syringomyelia (18.2 %). Intraspinal anomalies were located most frequently in the upper and lower thoracic regions. Syringomyelia and low conus were associated with female gender, and patients with rib changes suffered from intraspinal anomalies more frequently. No significant association was found between vertebral and intraspinal anomalies. CONCLUSIONS: The incidences of rib and intraspinal anomalies were 57.4 and 21.8 % in surgical Caucasians with congenital scoliosis, respectively. Unlike vertebral and intraspinal anomalies, rib and intraspinal anomalies were significantly associated. Male gender and intraspinal anomaly were associated with some previously suggested risk factors of curve progression.


Assuntos
Defeitos do Tubo Neural/epidemiologia , Costelas/anormalidades , Escoliose/epidemiologia , Canal Medular/anormalidades , Coluna Vertebral/anormalidades , Siringomielia/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Progressão da Doença , Feminino , Humanos , Incidência , Irã (Geográfico)/epidemiologia , Masculino , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Anormalidades Musculoesqueléticas/epidemiologia , Defeitos do Tubo Neural/diagnóstico por imagem , Radiografia , Estudos Retrospectivos , Costelas/diagnóstico por imagem , Escoliose/congênito , Escoliose/diagnóstico por imagem , Escoliose/cirurgia , Canal Medular/diagnóstico por imagem , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/cirurgia , Siringomielia/congênito , Siringomielia/diagnóstico por imagem , População Branca , Adulto Jovem
20.
Surg Radiol Anat ; 37(7): 845-51, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25552238

RESUMO

PURPOSE: Sternal foramina represent developmental defects in the sternum, which occur due to incomplete fusion of the sternal ossification centers. Sternal foramina have been correlated with several clinical implications and constitute a subject of interest for the forensic practice. The aim of this study is to define their incidence in Greek population. METHODS: The presence of midline foramen was studied in 60 dried, adult sterna derived from the Anatomy Department of Medical School of Aristotle University of Thessaloniki. Measurements were made with a 0.01-mm accuracy caliber and photographic documentation was obtained. Additionally, computed tomography scanning of the sterna was performed. RESULTS: Sternal foramina were found in 11 subjects, resulting in an incidence of 18.3% over the total population. In 27.3% of the subjects with sternal foramen, a single sternal foramen was observed in the body of the sternum, while in 45.5% of the sterna presenting sternal foramina, multiple xiphoidal foramina were noticed. In two specimens, association of xiphoidal foramina with sternal cleft was documented. CONCLUSION: Sternal foramina are variant quite common in the population, with distinct imaging pattern and awareness of their existence is important for the physician.


Assuntos
Doenças do Desenvolvimento Ósseo/epidemiologia , Esterno/anormalidades , Processo Xifoide/anormalidades , Idoso , Idoso de 80 Anos ou mais , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Cadáver , Feminino , Grécia/epidemiologia , Humanos , Incidência , Masculino , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Anormalidades Musculoesqueléticas/epidemiologia , Esterno/anatomia & histologia , Esterno/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Processo Xifoide/anatomia & histologia , Processo Xifoide/diagnóstico por imagem
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