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1.
Ann Agric Environ Med ; 27(2): 314-316, 2020 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-32588613

RESUMO

Degenerative lesions with hyperostosis on the anterior surface of cervical spine are common in clinical practice. In addition to pain being an effect of spinal dysfunction, they sometimes cause difficulties in swallowing or speaking as well as breathing disorders. A 52-year-old farmer with 4-year history of gradually intensifying dysphagia was admitted to hospital due to inability to intake a solid food, significant weight loss, and because of the appearance of a new symptom - dysphonia. Previous conservative treatment for swallow difficulties was ineffective. CT revealed a bone excrescence on the anterior surface of two cervical vertebrae which caused an oesophageal obstruction and compression of the vocal folds. Structural abnormalities of cervical spine should be considered in differential diagnosis of symptoms from the oesophagus and upper respiratory tract, especially when a first-line conservative treatment is not effective. In these cases, surgical removal of the osteophyte is an effective way of treatment.


Assuntos
Vértebras Cervicais/diagnóstico por imagem , Transtornos de Deglutição/diagnóstico , Disfonia/etiologia , Hiperostose/complicações , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/cirurgia , Diagnóstico Diferencial , Disfonia/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Resultado do Tratamento
2.
BMC Med Genet ; 21(1): 102, 2020 05 12.
Artigo em Inglês | MEDLINE | ID: mdl-32397996

RESUMO

BACKGROUND: Syndrome of synovitis acne pustulosis hyperostosis osteitis (SAPHO) and chronic recurrent multifocal osteomyelitis (CRMO) present two diseases of a dermatologic and rheumatologic spectrum that are variable in manifestation und therapeutic response. Genetic risk factors have long been assumed in both diseases, but no single reliable factor has been identified yet. Therefore, we aimed to clinically characterize a patient group with syndrome of synovitis acne pustulosis hyperostosis osteitis (SAPHO) (n = 47) and chronic recurrent multifocal osteomyelitis (CRMO)/ chronic non-bacterial osteomyelitis (CNO) (n = 9) and analyze a CRMO candidate gene. METHODS: Clinical data of all patients were collected and assessed for different combinations of clinical symptoms. SAPHO patients were grouped into categories according to the acronym; disease-contribution by pathogens was evaluated. We sequenced coding exons of FBLIM1. RESULTS: Palmoplantar pustular psoriasis (PPP) was the most common skin manifestation in CRMO/CNO and SAPHO patients; most SAPHO patients had sterno-costo-clavicular hyperostosis. The most common clinical category of the acronym was S_PHO (n = 26). Lack of pathogen detection from bone biopsies was more common than microbial isolation. We did not identify autosomal-recessive FBLIM1 variants. CONCLUSIONS: S_PHO is the most common combination of symptoms of its acronym. Genetic analyses of FBLIM1 did not provide evidence that this gene is relevant in our patient group. Our study indicates the need to elucidate SAPHO's and CRMO/CNO's pathogenesis.


Assuntos
Síndrome de Hiperostose Adquirida/genética , Moléculas de Adesão Celular/genética , Proteínas do Citoesqueleto/genética , Predisposição Genética para Doença , Osteomielite/genética , Síndrome de Hiperostose Adquirida/fisiopatologia , Adolescente , Adulto , Criança , Feminino , Humanos , Hiperostose/genética , Hiperostose/fisiopatologia , Masculino , Osteomielite/fisiopatologia , Psoríase/genética , Psoríase/fisiopatologia , Fatores de Risco
3.
J Craniofac Surg ; 31(2): 510-512, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31977710

RESUMO

SAPHO (synovitis-acne-pustulosis-hyperostosis-osteitis) syndrome is a chronic inflammatory disease involving multiple organs such as skin and bones. At present, its etiology and pathogenesis are still unclear. Due to the variety of clinical manifestations and the small number of SAPHO syndrome involving the mandible, accurate diagnosis is difficult for oral and maxillofacial surgeons. Here, the authors report that a male patient with SAPHO syndrome involving the maxillofacial skin and mandible, followed for 3 years. We used Tc-MDP (technetium-99 conjugated with methylene disphosphonate) (commercially known as Yunke) to treat this disease and achieved significant clinical treatment. This suggests that Tc-MDP can be used as a bisphosphonate to treat SAPHO syndrome.


Assuntos
Síndrome de Hiperostose Adquirida/tratamento farmacológico , Doenças Mandibulares/tratamento farmacológico , Medronato de Tecnécio Tc 99m/uso terapêutico , Acne Vulgar/tratamento farmacológico , Adulto , Doença Crônica , Humanos , Hiperostose/tratamento farmacológico , Masculino , Osteíte/tratamento farmacológico , Sinovite/tratamento farmacológico
4.
Acta Orthop ; 91(2): 171-176, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31960731

RESUMO

Background and purpose - Compressive osseointegration fixation is an alternative to intramedullary fixation for endoprosthetic reconstruction. Mechanical failure of compressive osseointegration presents differently on radiographs than stemmed implants, therefore we aimed to develop a reliable radiographic method to determine stable integration.Patients and methods - 8 reviewers evaluated 11 radiographic parameters from 29 patients twice, 2 months apart. Interclass correlation coefficients (ICCs) were used to assess test-retest and inter-rater reliability. We constructed a fast and frugal decision tree using radiographic parameters with substantial test-retest agreement, and then tested using radiographs from a new cohort of 49 patients. The model's predictions were compared with clinical outcomes and a confusion matrix was generated.Results - 6 of 8 reviewers had non-significant intra-rater ICCs for ≥ one parameter; all inter-rater ICCs were highly reliable (p < 0.001). Change in length between the top of the spindle sleeve and bottom of the anchor plug (ICC 0.98), bone cortex hypertrophy (ICC 0.86), and bone pin hypertrophy (ICC 0.81) were used to create the decision tree. The sensitivity and specificity of the training cohort were 100% (95% CI 52-100) and 87% (CI 74-94) respectively. The decision tree demonstrated 100% (CI 40-100) sensitivity and 89% (CI 75-96) specificity with the test cohort.Interpretation - A stable spindle length and at least 3 cortices with bone hypertrophy at the implant interface predicts stable osseointegration; failure is predicted in the absence of bone hypertrophy at the implant interface if the pin sites show hypertrophy. Thus, our decision tree can guide clinicians as they follow patients with compressive osseo-integration implants.


Assuntos
Interface Osso-Implante/diagnóstico por imagem , Árvores de Decisões , Extremidade Inferior/cirurgia , Osseointegração , Falha de Prótese/etiologia , Estudos de Coortes , Fêmur/diagnóstico por imagem , Fêmur/cirurgia , Humanos , Hiperostose , Extremidade Inferior/diagnóstico por imagem , Variações Dependentes do Observador , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/etiologia , Prognóstico , Implantação de Prótese/efeitos adversos , Implantação de Prótese/métodos , Radiografia/métodos , Sensibilidade e Especificidade , Estresse Mecânico
5.
Biomed Res Int ; 2019: 7623562, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31828128

RESUMO

As the initial part in the development of osteoarthritis (OA), subchondral bone sclerosis has been considered to be initiated by excess mechanical loading and proven to be correlated to other pathological changes. Sclerostin, which is an essential mechanical stress response protein, is encoded by the SOST gene. It is expressed in osteocytes and mature chondrocytes and has been proven to be closely correlated to OA. However, the relationship and mechanism between the SOST gene and the development of OA remain unclear. The aim of the present study was to investigate the role of the SOST gene in OA pathogenesis in the subchondral bone. A knee anterior cruciate ligament transection (ACLT) mouse osteoarthritis (OA) model on SOST-knockout (SOST KO) and wild-type (WT) mice was established. The pathogenic and phenotypic changes in the subchondral bone were investigated by histology, micro-CT, immunohistochemistry, TRAP staining, Masson staining, and Toluidine blue staining. It was found that sclerostin expression decreased in both the calcified cartilage and mineralized subchondral structures during the development of OA. Joint instability induced a severe cartilage degradation phenotype, with higher OARSI scores in SOST KO mice, when compared to WT mice. SOST KO mice with OA exhibited a higher BMD and BV/TV ratio, as well as a higher rate of bone remodeling and TRAP-positive cell number, when compared to the WT counterparts, but the difference was not significant between the sham-operation groups. It was concluded that loss of sclerostin aggravates knee OA in mice by promoting subchondral bone sclerosis and increasing catabolic activity of cartilage.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Hiperostose/genética , Osteoartrite/genética , Esclerose/genética , Sindactilia/genética , Animais , Densidade Óssea/genética , Remodelação Óssea/genética , Osso e Ossos/metabolismo , Osso e Ossos/fisiopatologia , Condrócitos/metabolismo , Condrócitos/patologia , Modelos Animais de Doenças , Fêmur/diagnóstico por imagem , Fêmur/metabolismo , Fêmur/fisiopatologia , Expressão Gênica/genética , Humanos , Hiperostose/diagnóstico por imagem , Hiperostose/fisiopatologia , Instabilidade Articular/diagnóstico por imagem , Instabilidade Articular/fisiopatologia , Camundongos , Camundongos Knockout , Osteoartrite/diagnóstico por imagem , Osteoartrite/fisiopatologia , Osteócitos/metabolismo , Osteócitos/patologia , Esclerose/diagnóstico por imagem , Esclerose/fisiopatologia , Sindactilia/diagnóstico por imagem , Sindactilia/fisiopatologia
6.
J Vet Sci ; 20(5): e52, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31565895

RESUMO

A 3-year-old mixed-breed female cat was diagnosed with a ventricular septal defect of the heart through an echocardiogram. After a 9-month treatment, progressive and diffuse hard thickening of all limbs was observed, which on radiographic examinations, revealed a marked thickening of the long bones. The necropsy findings were limited to the appendicular skeleton and thoracic vertebrae, in addition to a severe cardiac interventricular septal defect and lung edema. The histological evaluation revealed severe replacement of the cortical bone by spongy bone in all bone fragments examined. This is the first report of hypertrophic osteopathy occurring in association with a cardiac malformation in a cat.


Assuntos
Doenças do Gato/patologia , Comunicação Interventricular/veterinária , Hiperostose/veterinária , Animais , Doenças do Gato/diagnóstico , Gatos , Ecocardiografia/veterinária , Feminino , Comunicação Interventricular/diagnóstico por imagem , Hiperostose/diagnóstico , Hiperostose/patologia
7.
J Comput Assist Tomogr ; 43(5): 708-712, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31356523

RESUMO

OBJECTIVE: Meningioma-related skull magnetic resonance imaging findings other than hyperostosis are not widely recognized. We evaluated the novel findings of the skull adjacent to meningiomas. METHODS: Records from patients with meningiomas located adjacent to the skull on magnetic resonance imaging (n = 32) were included. Three skull findings (intramedullary prominent vessel, intramedullary enhancement, intramedullary T2-hyperintensity) and the widely known hyperostosis were retrospectively visually assessed. The frequency of these 3 findings and the relevance to each other, and their relationships with hyperostosis, size, length adjacent to the skull, and relative signal intensity of the meningioma were examined. RESULTS: The incidence of the three findings was 46.88%, 53.13%, and 62.5%, respectively, and that of hyperostosis was 46.88%. Each association involving the findings was strong, and they were significantly related to the size and length. CONCLUSIONS: Intramedullary prominent vessel, intramedullary enhancement, and intramedullary T2-hyperintensity may be novel characteristic skull findings associated with meningioma.


Assuntos
Imageamento Tridimensional/métodos , Imagem por Ressonância Magnética/métodos , Neoplasias Meníngeas/diagnóstico por imagem , Meningioma/diagnóstico por imagem , Crânio/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Meios de Contraste , Feminino , Humanos , Hiperostose/diagnóstico por imagem , Hiperostose/cirurgia , Interpretação de Imagem Assistida por Computador , Masculino , Neoplasias Meníngeas/cirurgia , Meningioma/cirurgia , Pessoa de Meia-Idade , Estudos Retrospectivos , Crânio/cirurgia
9.
J Orthop Surg Res ; 14(1): 156, 2019 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-31133027

RESUMO

BACKGROUND: An increased occurrence of cortical hypertrophy (CH) was observed 1-2 years after implanting short curved Fitmore hip stems. There are no published data about either the clinical relevance or the progression of CH over the long term. METHODS: Ninety-six primary total hip arthroplasties were performed between 2008 and 2010 using the Fitmore hip stem. Clinical and radiological parameters were recorded preoperatively and at 1, 2, 3, and 5 year follow-up. RESULTS: CH appeared mainly on antero-posterior radiographs in Gruen Zones 2, 3, 5, and 6. After 1 year, the diameter was 10 ± 2 mm and remained constant thereafter. The CH rate after 1 year was 69% and after 5 years 71%. Subsidence after 1 year was 1.6 ± 1.55 mm and 1.93 ± 1.72 mm after 5 years. Cortical thinning was 46% after 1 year and 56% after 5 years, mainly in Gruen Zones 7 and 8. In the first year radiolucencies were found in 51% in all Gruen Zones, and in 20% after 5 years. Patient, implant, and surgical factors did not correlate with radiological outcomes except that larger stems had more CH. After 5 years, the Harris Hip Score had improved from 59 to 94 and the Oxford Hip Score from 22 to 41. Radiographic parameters, notably CH, were not associated with clinical outcomes except that cortical thinning correlated with lower outcome scores. CONCLUSIONS: CH correlated neither with clinical outcome nor with patient, surgical or implant factors, except for a positive correlation with stem size. The Fitmore hip stems settled within the first year to a stable fixation and then remained almost unchanged. However, cortical thinning is common in Gruen Zone 7 and 8 meaning that there is stress-shielding.


Assuntos
Artroplastia de Quadril/instrumentação , Artroplastia de Quadril/tendências , Osso Cortical/diagnóstico por imagem , Prótese de Quadril/tendências , Hiperostose/diagnóstico por imagem , Desenho de Prótese/tendências , Idoso , Estudos de Coortes , Feminino , Seguimentos , Prótese de Quadril/normas , Humanos , Hiperostose/etiologia , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Desenho de Prótese/normas
10.
World Neurosurg ; 128: 37-46, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31048045

RESUMO

BACKGROUND: Intracranial meningiomas are brain tumors that have probably been known the longest, largely because of the occasional production of grotesque cranial deformities that have attracted the attention and interest of humankind. Because of the tendency of some intracranial meningiomas to cause skull deformation and thickening, these tumors have given rise to various speculations and theories related to their origin, starting in prehistoric times up to the present. METHODS: From the Steinheim skull and "pharaonic meningiomas" to the first meningioma monograph and the first explanations of Harvey Cushing regarding the mechanism of hyperostosis, this review aims to weave again the story of Arachne. We identify the main contributors who have tried to understand and explain the tendency of some of these tumors to cause hyperostosis or other skull bone involvements. CONCLUSIONS: The contribution of neurosurgeons or pathologists over the centuries is of undeniable importance and is the basis for understanding future molecular mechanisms.


Assuntos
Hiperostose/história , Neoplasias Meníngeas/história , Meningioma/história , História do Século XVI , História do Século XVII , História do Século XVIII , História do Século XIX , História do Século XX , História Antiga , Humanos , Hiperostose/complicações , Hiperostose/terapia , Neoplasias Meníngeas/complicações , Neoplasias Meníngeas/terapia , Meningioma/complicações , Meningioma/terapia , Crânio/patologia
12.
World Neurosurg ; 127: e497-e502, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30926555

RESUMO

BACKGROUND: Replacing the skull defect with synthetic materials for hyperostotic bone secondary to meningioma is recommended owing to the possibility of tumor invasion. In our institution, neurosurgeons have been putting back the refashioned hyperostotic bone flap after meningioma excision because of budget constraints. The aim of this study was to review the long-term meningioma recurrence rate in these patients. METHODS: This was a nonrandomized, prospective observational study conducted from September 2011 to January 2015 on patients with intracranial convexity and parasagittal meningiomas. Preoperative computed tomography brain scans were obtained in all patients to confirm bony hyperostosis. Intraoperatively, part of the hyperostotic bone was sent for histopathologic examination. The rest of the bone flap was refashioned by drilling off the hyperostotic part. The bone flap was put back over the craniotomy site after soaking in distilled water. All patients were followed up for tumor recurrence. RESULTS: The study included 34 patients with convexity or parasagittal meningioma World Health Organization grade I-II who underwent Simpson grade Ia and IIa excision. Median follow-up was 63.5 months (mean 64.9 ± 9.4 months). The hyperostotic bone flap showed presence of tumor in 35% of patients. There were 2 patients with parasagittal meningiomas after Simpson grade IIa resections who developed tumor recurrences. CONCLUSIONS: Our study found that meningioma recurrence was unlikely when autologous cranioplasty was done with refashioned hyperostotic bone. This could be done in the same setting with meningioma excision. There was no recurrence in convexity meningiomas at mean 5-year follow-up.


Assuntos
Neoplasias Meníngeas/cirurgia , Meningioma/cirurgia , Recidiva Local de Neoplasia/cirurgia , Crânio/cirurgia , Adulto , Idoso , Craniotomia/efeitos adversos , Feminino , Humanos , Hiperostose/complicações , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Retalhos Cirúrgicos/cirurgia
13.
PLoS One ; 14(3): e0213369, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30845224

RESUMO

INTRODUCTION: Portugal underwent significant political, demographic and epidemiological transitions during the 20th century resulting in migration to urban areas with subsequent overcrowding and issues with water sanitation. This study investigates population health during these transitions and interprets results within a framework of recent history and present-day public health information. We investigate skeletal evidence for anemia (cribra orbitalia and porotic hyperostosis) as indicators of stress and frailty-i.e., whether the lesions contribute to susceptibility for disease or increased risk of death. METHODS: The presence and severity of skeletal lesions were compared against known sex and cause of death data to investigate potential heterogeneity in frailty and the relationship between lesions and risk of dying over time. Additionally, we tested for the presence of selective mortality in our data (i.e., whether or not the sample is biased for individuals with higher frailty). Our sample derives from a large, documented, modern Portuguese collection from Lisbon and is the first study of its kind using a documented collection. The collection represents primarily middle-class individuals. RESULTS AND CONCLUSIONS: Analyses indicated that porotic hyperostosis became more common and severe over time, while cribra orbitalia severity increased over time. Neither process was linked to cause of death. However, there was a significant relationship to sex; males exhibited a higher prevalence and severity of lesions and increased mortality. A Gompertz function showed decreased survivorship in early life but increased survivorship over age 60. Using comorbidities of anemia, we were unable to detect selective mortality-i.e., in our sample, lesions do not represent a sign of poor health or increased frailty and are not significantly linked with a decreased mean age-at-death. However, lesion prevalence and severity do reflect the socioeconomic processes in urban Lisbon during the 1800s and 1900s and the possibility of water-borne parasites as the contributing factor for iron deficiency anemia.


Assuntos
Anemia Ferropriva/complicações , Fragilidade/etiologia , Sistema Musculoesquelético/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Humanos , Hiperostose/patologia , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Órbita/patologia , Saúde da População , Portugal , Adulto Jovem
15.
Clin Exp Rheumatol ; 37(4): 663-669, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30767869

RESUMO

OBJECTIVES: To evaluate the clinical efficacy of bisphosphonates treatment for spinal bone marrow oedema (BME) in patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. METHODS: SAPHO syndrome patients presenting to Peking Union Medical College Hospital from 2015 to 2016 were recruited. Patients were administered pamidronate disodium 1 mg/kg/d intravenously, for 3 days, at baseline and 3 months later. The symptoms were evaluated using the Visual Analog Score (VAS) for pain, and other clinical measures including, spinal BME scores, ß-crosslaps, osteocalcin, and inflammatory factors, were collected. RESULTS: A total of 30 patients (20 women and 10 men) with a median age of 47.2 (interquartile range 8.8) years were recruited. In a short time, the patients showed a significant decrease in VAS (before vs. after; first treatment: 5.70±1.62 vs. 2.30±1.29 cm, second treatment: 4.03±1.88 vs. 2.17±1.23 cm) and ß-crosslaps (first treatment: 0.4441±0.1923 vs. 0.0859±0.0374 pg/ml, second treatment: 0.2891±0.1983 vs. 0.0962±0.0324 pg/ml) (all p<0.05). At 12-month follow-up, compared with the baseline, we noticed a significant drop in the VAS (5.70±1.62 vs. 2.43±1.25 cm), erythrocyte sedimentation rate (28.87±25.26 vs. 18.00±18.65 mm/h), high-sensitivity C-reactive protein level (11.76±10.19 vs. 5.84±5.88 mg/L), osteocalcin (2.30±1.27 vs. 1.65±0.80 ng/ml), and BME (30.50±24.09 vs. 22.13±27.79) (all p<0.05). No one had serious adverse events. CONCLUSIONS: Bisphosphonates can significantly and rapidly relieve symptoms in patients with SAPHO syndrome and have a long-term effect on inflammation and spinal BME. We suggest that bisphosphonates could be used as the first-line therapeutic drug for SAPHO syndrome, especially in patients with spinal BME.


Assuntos
Síndrome de Hiperostose Adquirida , Conservadores da Densidade Óssea/uso terapêutico , Difosfonatos/uso terapêutico , Acne Vulgar , Síndrome de Hiperostose Adquirida/tratamento farmacológico , Feminino , Humanos , Hiperostose , Masculino , Pessoa de Meia-Idade , Osteíte , Estudos Prospectivos , Sinovite , Resultado do Tratamento
17.
Braz J Otorhinolaryngol ; 85(1): 43-49, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-29174644

RESUMO

INTRODUCTION: Although the nose and lungs are separate organs, numerous studies have reported that the entire respiratory system can be considered as a single anatomical and functional unit. The upper and lower airways affect each other either directly or through reflex mechanisms. OBJECTIVE: In this study, we aimed to evaluate the effects of the radiofrequency ablation of persistent inferior turbinate hypertrophy on nasal and pulmonary function. METHODS: Twenty-seven patients with bilateral persistent inferior turbinate hypertrophy without septal deviation were included in this study. All of the patients were evaluated using anterior rhinoscopy, nasal endoscopy, acoustic rhinometry, a visual analogue scale, and flow-sensitive spirometry on the day before and 4 months after the radiofrequency ablation procedure. RESULTS: The post-ablation measurements revealed that the inferior turbinate ablation caused an increase in the mean cross-sectional area and volume of the nose, as well as in the forced expiratory volume in 1s, forced vital capacity, and peak expiratory flow of the patients. These differences between the pre- and post-ablation results were statistically significant. The post-ablation visual analogue scale scores were lower when compared with the pre-ablation scores, and this difference was also statistically significant. CONCLUSION: This study demonstrated that the widening of the nasal passage after the reduction of the inferior turbinate size had a favorable effect on the pulmonary function tests.


Assuntos
Hiperostose/cirurgia , Obstrução Nasal/fisiopatologia , Obstrução Nasal/cirurgia , Ablação por Radiofrequência/métodos , Sistema Respiratório/fisiopatologia , Conchas Nasais/fisiopatologia , Conchas Nasais/cirurgia , Adulto , Endoscopia/métodos , Feminino , Volume Expiratório Forçado , Humanos , Hiperostose/fisiopatologia , Masculino , Pessoa de Meia-Idade , Obstrução Nasal/diagnóstico por imagem , Tamanho do Órgão , Pico do Fluxo Expiratório , Período Pós-Operatório , Estudos Prospectivos , Valores de Referência , Rinometria Acústica , Estatísticas não Paramétricas , Resultado do Tratamento , Conchas Nasais/diagnóstico por imagem , Conchas Nasais/patologia , Escala Visual Analógica , Capacidade Vital , Adulto Jovem
18.
World Neurosurg ; 121: 127-130, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30321672

RESUMO

BACKGROUND: Hydrocephalus is an international disease process that is commonly treated surgically with a ventriculoperitoneal shunt. This device may be prone to malfunction, most commonly from obstruction, disconnection, or infection. CASE DESCRIPTION: A 35-year-old female with hydrocephalus and a ventriculoperitoneal shunt presented with altered mental status and imaging concerning for a shunt malfunction. Intraoperatively, she was found to have bone growing over and compressing the proximal occluder of the shunt valve, causing a mechanical obstruction. Removal of the bone allowed for egress of cerebrospinal fluid and return of proper shunt function. The patient did well postoperatively. CONCLUSION: Hydrocephalus, ventriculoperitoneal shunts, and shunt revisions represent a significant health burden and cost. Here we present an unusual cause of a shunt malfunction caused by bony overgrowth.


Assuntos
Falha de Equipamento , Hiperostose/complicações , Complicações Pós-Operatórias , Derivação Ventriculoperitoneal , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/cirurgia , Hiperostose/diagnóstico por imagem , Hiperostose/cirurgia
19.
Sci Rep ; 8(1): 15710, 2018 10 24.
Artigo em Inglês | MEDLINE | ID: mdl-30356088

RESUMO

Mutations in the progressive ankylosis protein (NP_473368, human ANKH) cause craniometaphyseal dysplasia (CMD), characterized by progressive thickening of craniofacial bones and widened metaphyses in long bones. The pathogenesis of CMD remains largely unknown, and treatment for CMD is limited to surgical intervention. We have reported that knock-in mice (AnkKI/KI) carrying a F377del mutation in ANK (NM_020332, mouse ANK) replicate many features of CMD. Interestingly, ablation of the Ank gene in AnkKO/KO mice also leads to several CMD-like phenotypes. Mutations causing CMD led to decreased steady-state levels of ANK/ANKH protein due to rapid degradation. While wild type (wt) ANK was mostly associated with plasma membranes, endoplasmic reticulum (ER), Golgi apparatus and lysosomes, CMD-linked mutant ANK was aberrantly localized in cytoplasm. Inhibitors of proteasomal degradation significantly restored levels of overexpressed mutant ANK, whereas endogenous CMD-mutant ANK/ANKH levels were more strongly increased by inhibitors of lysosomal degradation. However, these inhibitors do not correct the mislocalization of mutant ANK. Co-expressing wt and CMD-mutant ANK in cells showed that CMD-mutant ANK does not negatively affect wt ANK expression and localization, and vice versa. In conclusion, our finding that CMD mutant ANK/ANKH protein is short-lived and mislocalized in cells may be part of the CMD pathogenesis.


Assuntos
Doenças do Desenvolvimento Ósseo/etiologia , Anormalidades Craniofaciais/etiologia , Hiperostose/etiologia , Hipertelorismo/etiologia , Proteínas de Transporte de Fosfato/metabolismo , Animais , Doenças do Desenvolvimento Ósseo/genética , Células Cultivadas , Anormalidades Craniofaciais/genética , Humanos , Hiperostose/genética , Hipertelorismo/genética , Camundongos , Mutação , Proteínas de Transporte de Fosfato/genética , Complexo de Endopeptidases do Proteassoma/metabolismo , Estabilidade Proteica , Ratos , Saccharomyces cerevisiae , Ubiquitinação
20.
Am J Phys Anthropol ; 167(4): 896-902, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30259969

RESUMO

OBJECTIVES: Porotic lesions of the skull (cribra orbitalia and porotic hyperostosis) are one of the most common types of lesion identified in archaeological human bone and have also been found in hominins and non-human primates. Because of the frequency with which such lesions are found there has been extensive debate on the possible causes and whether they are linked, with much of the debate centering on anemia. The biological approach to diagnosis in paleopathology used by Don Ortner and recently proposed more formally as a technique to facilitate diagnosis in paleopathology by Simon Mays may offer a means of answering some of the questions surrounding these lesions. MATERIALS AND METHODS: A review was undertaken of biomedical information on changes in the distribution of marrow type and pattern of conversion of red and mixed marrow, and the potential for re-conversion of yellow marrow with age. The range and type of other conditions that might result in the development of porous lesions were also considered. RESULTS: Combining information from the biomedical literature on marrow type and patterns of conversion with age, with careful evaluation of the type and location of porous lesions in the skull and across the rest of the skeleton will assist in suggesting a diagnosis. DISCUSSION: A wide range of conditions can produce porous lesions in the cranial vault and the orbital roof, but due to anatomical structures and physiological factors such lesions are more likely to occur in the orbital roof. Anemia can produce lesions in both locations, but evidence of marrow expansion is required to confirm it as a cause.


Assuntos
Anemia , Medula Óssea/patologia , Hiperostose , Órbita/patologia , Paleopatologia/métodos , Adolescente , Adulto , Anemia/diagnóstico , Anemia/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Humanos , Hiperostose/diagnóstico , Hiperostose/patologia , Lactente , Recém-Nascido , Adulto Jovem
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