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1.
Ethiop J Health Sci ; 32(3): 597-604, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35813670

RESUMO

Background: Histologically affirmed meningiomas represent 37.6% of all essential central nervous system tumors and half of all types of critical central nervous system tumors. This study compares computed tomography (CT) scans of the head with histological findings to establish the characteristics of different types of meningiomas observed in eastern Indonesia. Methods: This prospective study evaluated 224 patients by examining the correlation between histological and CT data collected from January to December 2020 at Wahidin Sudirohusodo Hospital, Makassar, Indonesia. We assessed data including the location of pre- and post-contrast CT scans, number of tumors, margin, density, contrast enhancement, bony reaction, calcification, and perifocal edema. Patients underwent biopsies followed by an examination of the anatomical pathology tissue. Results: The female-to-male ratio of participants was 4.2 to 1, and the highest incidence was observed in participants of both genders aged 40-60 years. The most common meningioma subtype was meningothelial, while the most commonly observed locations involved the convexity and sphenoid regions. Most meningiomas had well-defined margins on CT imaging: 54.5% of patients exhibited isodense lesions on pre-contrast scans, and 64.7% exhibited high-contrast enhancement. Bone destruction developed in 4.1% of patients, while hyperostosis was observed in 17.4%, and calcification was present in 10.3% of the participants. Edema was identified in 65.2% of cases, of which moderate edema was the most common manifestation. Conclusion: Meningioma should be highly suspected in female patients aged 40-60 with isodense lesions on pre-contrast CT scans and high-contrast enhancement on post-contrast CT scans. Meningiomas were primarily classified as convexity meningiomas with well-defined margins. The presence of hyperostosis, calcification, and brain edema supported the meningioma diagnosis.


Assuntos
Hiperostose , Neoplasias Meníngeas , Meningioma , Estudos de Coortes , Edema , Feminino , Humanos , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/patologia , Meningioma/diagnóstico por imagem , Meningioma/patologia , Estudos Prospectivos , Estudos Retrospectivos
2.
Curr Opin Rheumatol ; 34(4): 209-217, 2022 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-35699334

RESUMO

PURPOSE OF REVIEW: The purpose of this review is to present the up-to-date evidence on the epidemiology, pathogenesis, musculoskeletal manifestations, and imaging of the synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome and to discuss its relationship with spondyloarthritis (SpA). RECENT FINDINGS: SAPHO is a rare inflammatory disorder of bone, joints, and skin, with a worldwide distribution that predominantly affects the middle-age adults. The hallmark of the syndrome is a constellation of sterile inflammatory osteitis, hyperostosis, and synovitis involving the anterior chest wall, associated with acneiform and neutrophilic dermatoses, such as palmoplantar pustulosis and severe acne. The axial skeleton, sacroiliac, and peripheral joints can be involved in a similar fashion to SpA. The pathogenesis of the syndrome is multifactorial. The diagnosis is mainly based on the clinical and typical radiological features. The treatment approach is based on the off-label use of antibiotics, bisphosphonates, disease-modifying antirheumatic drugs, and anticytokine biologics. SUMMARY: The SAPHO syndrome shares common features with SpA-related diseases, yet also shows some unique pathogenetic and clinical features. The nosology of SAPHO remains a subject of controversy, awaiting further research into the pathogenetic and clinical aspects of this syndrome. A better understanding of these aspects will improve the diagnostics and clinical care of patients with SAPHO.


Assuntos
Acne Vulgar , Síndrome de Hiperostose Adquirida , Hiperostose , Osteíte , Espondilartrite , Sinovite , Acne Vulgar/tratamento farmacológico , Acne Vulgar/etiologia , Síndrome de Hiperostose Adquirida/diagnóstico , Síndrome de Hiperostose Adquirida/tratamento farmacológico , Síndrome de Hiperostose Adquirida/patologia , Adulto , Humanos , Hiperostose/patologia , Pessoa de Meia-Idade , Osteíte/diagnóstico , Osteíte/tratamento farmacológico , Osteíte/etiologia , Espondilartrite/complicações , Espondilartrite/diagnóstico , Espondilartrite/tratamento farmacológico , Sinovite/patologia
4.
AJNR Am J Neuroradiol ; 43(7): 978-983, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35772803

RESUMO

BACKGROUND AND PURPOSE: Diagnosing spontaneous intracranial hypotension and associated CSF leaks can be challenging, and additional supportive imaging findings would be useful to direct further evaluation. This retrospective study evaluated whether there was a difference in the prevalence of calvarial hyperostosis in a cohort of patients with spontaneous intracranial hypotension compared with an age- and sex-matched control population. MATERIALS AND METHODS: Cross-sectional imaging (CT of the head or brain MR imaging examinations) for 166 patients with spontaneous intracranial hypotension and 321 matched controls was assessed by neuroradiologists blinded to the patient's clinical status. The readers qualitatively evaluated the presence of diffuse or layered calvarial hyperostosis and measured calvarial thickness in the axial and coronal planes. RESULTS: A significant difference in the frequency of layered hyperostosis (31.9%, 53/166 subjects versus 5.0%, 16/321 controls, P < .001, OR = 11.58) as well as the frequency of overall (layered and diffuse) hyperostosis (38.6%, 64/166 subjects versus 13.2%, 42/321 controls, P < .001, OR = 4.66) was observed between groups. There was no significant difference in the frequency of diffuse hyperostosis between groups (6.6%, 11/166 subjects versus 8.2%, 26/321 controls, P = .465). A significant difference was also found between groups for calvarial thickness measured in the axial (P < .001) and coronal (P < .001) planes. CONCLUSIONS: Layered calvarial hyperostosis is more prevalent in spontaneous intracranial hypotension compared with the general population and can be used as an additional noninvasive brain imaging marker of spontaneous intracranial hypotension and an underlying spinal CSF leak.


Assuntos
Hiperostose , Hipotensão Intracraniana , Estudos de Casos e Controles , Vazamento de Líquido Cefalorraquidiano , Anormalidades Craniofaciais , Humanos , Hiperostose/diagnóstico por imagem , Hipotensão Intracraniana/complicações , Hipotensão Intracraniana/diagnóstico por imagem , Hipotensão Intracraniana/epidemiologia , Imageamento por Ressonância Magnética/métodos , Mielografia/métodos , Estudos Retrospectivos
5.
BMJ Case Rep ; 15(6)2022 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-35725289

RESUMO

Rhabdomyosarcoma is the most common soft-tissue sarcoma in paediatric patients and may arise as a primary orbital neoplasm. Imaging studies show a unilateral solitary orbital lesion. With larger tumours, erosion of the adjacent orbital walls is a common accompanying bony change. We present an unusual case of rhabdomyosarcoma in a preschool girl with proptosis and temporal bossing. Imaging studies showed a homogeneous, well-delineated, extraconal mass of the right orbit with hyperostosis of the adjacent sphenoid bone. After excision of the mass and debulking of the sphenoid bone, histopathology showed embryonal rhabdomyosarcoma with no malignant infiltration of the adjacent bone. This is the first reported case of hyperostosis associated with rhabdomyosarcoma. Periosteal reaction is the proposed underlying mechanism.


Assuntos
Hiperostose , Neoplasias Orbitárias , Rabdomiossarcoma Embrionário , Rabdomiossarcoma , Criança , Pré-Escolar , Feminino , Humanos , Órbita/diagnóstico por imagem , Órbita/patologia , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/patologia , Neoplasias Orbitárias/cirurgia , Rabdomiossarcoma/diagnóstico por imagem , Rabdomiossarcoma/cirurgia , Rabdomiossarcoma Embrionário/diagnóstico por imagem , Rabdomiossarcoma Embrionário/cirurgia , Tomografia Computadorizada por Raios X
6.
Bone ; 160: 116401, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35381389

RESUMO

Bone formation by osteoblasts is achieved through remodeling-based bone formation (RBBF) and modeling-based bone formation (MBBF). The former is when bone formation occurs after osteoclastic bone resorption to maintain bone mass and calcium homeostasis. The latter is when new bone matrices are added on the quiescent bone surfaces. Administration of anti-sclerostin neutralizing antibody promotes MBBF in ovariectomized rats and postmenopausal women. However, it remains to be elucidated which mode of bone formation mainly occurs in Sost-deficient mice under physiological conditions. Here, we show that two-thirds of bone formation involves RBBF in 12-week-old Sost-deficient mice (C57BL/6 background). Micro-computed tomography and histomorphometric analyses showed that the trabecular bone mass in Sost-KO mice was higher than that in Sost+/- mice. In contrast, the osteoclast number remained unchanged in Sost-KO mice, but the bone resorption marker TRAP5b in serum was slightly higher in those mice. Treatment with anti-RANKL antibody increased the trabecular bone mass of Sost+/- or Sost-KO mice. Bone formation markers such as osteoid surfaces, the mineral apposition rate, and bone formation rate were almost completely suppressed in Sost+/- mice treated with anti-RANKL antibody compared with vehicle-treated Sost+/- mice. In Sost-KO mice, treatment with anti-RANKL antibody suppressed those parameters by more than half. These findings indicate that RBBF accounts for most of the bone formation in Sost+/- mice, whereas approximately two-thirds of bone formation is estimated to be remodeling-based in 12-week-old Sost-deficient mice. Furthermore, anti-RANKL antibody may be useful for detecting MBBF on trabecular bone.


Assuntos
Reabsorção Óssea , Osteogênese , Proteínas Adaptadoras de Transdução de Sinal , Animais , Feminino , Glicoproteínas/metabolismo , Humanos , Hiperostose , Peptídeos e Proteínas de Sinalização Intercelular , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Osteogênese/fisiologia , Ratos , Sindactilia , Microtomografia por Raio-X
8.
Medicina (Kaunas) ; 58(2)2022 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-35208525

RESUMO

Background and Objectives: Sclerostin is an SOST gene product that inhibits osteoblast activity and prevents excessive bone formation by antagonizing the Wnt signaling pathway. Sclerosteosis has been linked to loss of function mutations in the SOST gene. It is a rare autosomal recessive disorder characterized by craniotubular hyperostosis and can lead to fatal cerebellar herniation. Our aim is to describe the clinical and radiological features and the new underlying SOST mutation in a patient with sclerosteosis. Case: A 25-year-old female who was referred to the endocrine clinic for suspected excess growth hormone. The patient complained of headaches, progressive blurred vision, hearing disturbances, increased size of feet, proptosis, and protrusion of the chin. She had normal antenatal history except for syndactyly. Images showed diffuse osseous thickening and high bone mineral density. Biochemical and hormonal tests were normal. Due to progressive compressive optic neuropathy, optic nerve fenestration with decompression hemicraniotomy was performed. Sclerosteosis was suspected due to the predominant craniotubular hyperostosis with syndactyly. Using peripheral leucocyte DNA, genomic sequencing of the SOST gene was performed. This identified a novel deletion homozygous mutation in the SOST gene (c.387delG, p.Asp131ThrfsTer116) which disrupts sclerostin function, causing sclerosteosis. Conclusions: Discovery of the molecular basis of sclerosteosis represents an important advance in the diagnosis and management of this fatal disease.


Assuntos
Hiperostose , Sindactilia , Proteínas Adaptadoras de Transdução de Sinal , Adulto , Proteínas Morfogenéticas Ósseas/química , Proteínas Morfogenéticas Ósseas/genética , Proteínas Morfogenéticas Ósseas/metabolismo , Feminino , Marcadores Genéticos , Humanos , Hiperostose/diagnóstico por imagem , Hiperostose/genética , Hiperostose/metabolismo , Mutação , Gravidez , Sindactilia/diagnóstico por imagem , Sindactilia/genética
9.
J Dent Res ; 101(7): 793-801, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35114849

RESUMO

The roles of Wnt/ß-catenin signaling in regulating the morphology and microstructure of craniomaxillofacial (CMF) bones was explored using mice carrying a constitutively active form of ß-catenin in activating Dmp1-expressing cells (e.g., daßcatOt mice). By postnatal day 24, daßcatOt mice exhibited midfacial truncations coupled with maxillary and mandibular hyperostosis that progressively worsened with age. Mechanistic insights into the basis for the hyperostotic facial phenotype were gained through molecular and cellular analyses, which revealed that constitutively activated ß-catenin in Dmp1-expressing cells resulted in an increase in osteoblast number and an increased rate of mineral apposition. An increase in osteoblasts was accompanied by an increase in osteocytes, but they failed to mature. The resulting CMF bone matrix also had an abundance of osteoid, and in locations where compact lamellar bone typically forms, it was replaced by porous, woven bone. The hyperostotic facial phenotype was progressive. These findings identify for the first time a ligand-independent positive feedback loop whereby unrestrained Wnt/ß-catenin signaling results in a CMF phenotype of progressive hyperostosis combined with architecturally abnormal, poorly mineralized matrix that is reminiscent of craniotubular disorders in humans.


Assuntos
Hiperostose , beta Catenina , Animais , Camundongos , Osteoblastos/metabolismo , Osteócitos/metabolismo , Via de Sinalização Wnt , beta Catenina/metabolismo
11.
Clin Exp Dermatol ; 47(5): 978-980, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35089610

RESUMO

We report the use of ixekizumab in treating synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome, the first such report to our knowledge. The patient presented with palmoplantar pustulosis and sternoclavicular joint pain, which was markedly improved with ixekizumab treatment.


Assuntos
Acne Vulgar , Síndrome de Hiperostose Adquirida , Hiperostose , Osteíte , Sinovite , Acne Vulgar/tratamento farmacológico , Síndrome de Hiperostose Adquirida/diagnóstico , Síndrome de Hiperostose Adquirida/tratamento farmacológico , Anticorpos Monoclonais Humanizados , Humanos , Osteíte/diagnóstico , Osteíte/tratamento farmacológico , Sinovite/tratamento farmacológico
12.
J Clin Rheumatol ; 28(2): e545-e551, 2022 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-33843770

RESUMO

ABSTRACT: Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is a rare chronic disease with marked clinical and radiological heterogeneity. It is characterized by a combination of dermatological and osteoarticular manifestations. The treatment of SAPHO syndrome is not yet codified. It includes several therapeutic options such as anti-inflammatory drugs, bisphosphonates, antibiotics, conventional disease-modifying antirheumatic drugs, and biological treatment.This article aims to provide an updated review of the different pharmacological options for SAPHO syndrome. We also propose a therapeutic algorithm for the management of this disease.


Assuntos
Acne Vulgar , Síndrome de Hiperostose Adquirida , Hiperostose , Osteíte , Sinovite , Acne Vulgar/diagnóstico , Acne Vulgar/tratamento farmacológico , Síndrome de Hiperostose Adquirida/diagnóstico , Síndrome de Hiperostose Adquirida/tratamento farmacológico , Algoritmos , Humanos , Hiperostose/diagnóstico , Hiperostose/tratamento farmacológico , Hiperostose/etiologia , Osteíte/diagnóstico , Osteíte/tratamento farmacológico , Osteíte/etiologia
13.
Skeletal Radiol ; 51(6): 1173-1178, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34664089

RESUMO

OBJECTIVE: Incidental rib hyperostosis is defined as asymmetric cortical thickening and sclerosis of the medial posterior ribs and is important because it may lead to unnecessary laboratory testing, additional imaging and occasionally biopsy. The purpose of this study is to identify the incidence of rib hyperostosis within different patient groups known to have an increased propensity towards osteophyte formation and ankylosis. METHODS: This study was a retrospective cohort study reviewing chest CT examinations in a control group of patients over 50 years old and three different patient populations: psoriatic arthritis, ankylosing spondylitis, and diffuse idiopathic skeletal hyperostosis (DISH). Each CT was evaluated by an attending musculoskeletal and cardiothoracic radiologist to identify rib hyperostosis, osteophyte formation, ankylosis, and spinal curvature. Two senior radiology residents also performed consensus reads and inter-reader reliability was calculated between the two groups. RESULTS: Two hundred eighty-two individuals were included in the study of which 38 (13.5%) had at least one hyperostotic rib. The ankylosing spondylitis population and the DISH population had the highest incidence of rib hyperostosis with a relative risk of 5.6 (p = 0.012) and 5.3 (p = < 0.001) when compared to the control group. There was good inter-reader reliability for the presence of rib hyperostosis with a kappa estimate of 0.739. CONCLUSION: Incidentally detected rib hyperostosis is most likely the sequela of abnormal stress on the ribs secondary to rib hypomobility from fusion at the costovertebral joint. The incidence of rib hyperostosis is markedly increased in the DISH and ankylosis spondylitis study populations.


Assuntos
Hiperostose Esquelética Difusa Idiopática , Hiperostose , Osteófito , Espondilite Anquilosante , Humanos , Hiperostose/complicações , Hiperostose Esquelética Difusa Idiopática/diagnóstico por imagem , Hiperostose Esquelética Difusa Idiopática/epidemiologia , Incidência , Pessoa de Meia-Idade , Osteófito/complicações , Reprodutibilidade dos Testes , Estudos Retrospectivos , Costelas/diagnóstico por imagem , Costelas/patologia , Tomografia Computadorizada por Raios X/métodos
14.
Mod Rheumatol ; 32(4): 665-674, 2022 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-34967407

RESUMO

Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis (SAPHO) syndrome is a rare inflammatory osteoarticular disorder, which encompassed many diseases, including pustulotic arthro-osteitis (PAO). Musculoskeletal manifestations, including osteitis, synovitis, and hyperostosis, are the hallmarks of the SAPHO syndrome and affect a variety of regions of the body. Recent survey indicated that more than 80% of cases of SAPHO syndrome in Japan were PAO, originally proposed by Sonozaki et al. in 1981, whereas severe acne was the most commonly reported skin ailment amongst participants with SAPHO syndrome in Israel. Prevalence of SAPHO syndrome remains unavailable, whereas the prevalence of palmoplantar pustulosis (PPP) was reported to be 0.12% in Japan, and 10-30% of patients with PPP had PAO. SAPHO syndrome and PAO are predominantly found in patients in the third through fifth decades of life, and a female predominance is seen in both groups. The diagnosis is typically made by a rheumatologist or dermatologist. Identification of a variety of the clinical, radiological, and laboratory features outlined, as well as diagnostic criteria, are used to make the diagnosis. Goals of treatment seek to maximize health-related quality of life, preventing structural changes and destruction, and normalizing physical function and social participation. Finally, we review the non-pharmacological and pharmacological managements.


Assuntos
Acne Vulgar , Síndrome de Hiperostose Adquirida , Hiperostose , Osteíte , Psoríase , Dermatopatias Vesiculobolhosas , Sinovite , Síndrome de Hiperostose Adquirida/diagnóstico por imagem , Síndrome de Hiperostose Adquirida/epidemiologia , Doença Crônica , Feminino , Humanos , Masculino , Osteíte/diagnóstico , Qualidade de Vida , Doenças Raras
15.
J Int Med Res ; 49(12): 3000605211065314, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34932408

RESUMO

Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome is an umbrella term covering a constellation of bone lesions and skin manifestations, but has rarely been clarified in the clinic. We report a 28-year-old woman who had initial onset of SAPHO syndrome with involvement of the femur, and she experienced a tortuous diagnostic course. We also performed a literature review of SAPHO syndrome cases involving the femur and summarize several empirical conclusions by integrating previous findings with our case. Furthermore, we propose our perspective that ailment of the skin caused by infection of pathogens might be the first hit for triggering or perpetuating the activation of the immune system. As a result, musculoskeletal manifestations are probably the second hit by crosstalk of an autoimmune reaction. The skin manifestations preceding bone lesions can be well explained. Current interventions for SAPHO syndrome remain controversial, but drugs aiming at symptom relief could serve as the first preference for treatment. An accurate diagnosis and appropriate treatment can cure patients in a timely manner. Although the pathogenesis of SAPHO syndrome remains to be determined, physicians and surgeons still need to heighten awareness of this entity to avoid invasive procedures, such as frequent biopsies or nonessential ostectomy.


Assuntos
Acne Vulgar , Síndrome de Hiperostose Adquirida , Neoplasias Femorais , Hiperostose , Osteíte , Sinovite , Síndrome de Hiperostose Adquirida/diagnóstico , Síndrome de Hiperostose Adquirida/tratamento farmacológico , Adulto , Feminino , Humanos , Osteíte/diagnóstico por imagem , Osteíte/tratamento farmacológico
16.
Childs Nerv Syst ; 37(12): 3695-3703, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34519872

RESUMO

PURPOSE: Autosomal recessive osteopetrosis has a variable presentation, most commonly including failure to thrive, hypocalcemia, seizures, hepatosplenomegaly, hydrocephalus, vision or hearing loss, and cytopenias. Multiple symptoms are usually seen at presentation. The variability of presentation often delays diagnosis and subsequent treatment. Here, we present a case of an infant with this condition who initially presented with triventricular hydrocephalus with Chiari I malformation. This alone is not a common presentation of this disease, and we present this case to highlight autosomal recessive osteopetrosis as a potential diagnosis in infants presenting with hydrocephalus and discuss the other associated symptoms, management, and prognosis of this condition. CASE REPORT: The patient was a full-term infant with a routine newborn period. At 6 months, the infant had macrocephaly and frontal bossing with a bulging fontanelle. She was found to have hydrocephalus with moderate ventriculomegaly involving the third and lateral ventricles with an associated Chiari 1 malformation. The infant was asymptomatic at the time. The infant was promptly referred to neurosurgery and underwent an uncomplicated ventriculoperitoneal shunt placement. Post-operative X-rays showed increased density of the skull with other bone changes suggestive of autosomal recessive osteopetrosis. Subsequent lab work and imaging studies were consistent with this condition. The diagnosis was confirmed by genetic testing, and the patient has undergone treatment with hematopoietic stem cell transplant. CONCLUSION: Hydrocephalus is a common feature of this condition, typically seen in conjunction with other systemic symptoms and laboratory findings. Our patient had a limited initial presentation of triventricular hydrocephalus with Chiari I malformation and was otherwise clinically asymptomatic. There is limited literature of such a presentation, and we highlight this case to increase awareness, as timely diagnosis of these patients is critical for treatment and future outcomes.


Assuntos
Hidrocefalia , Hiperostose , Osteopetrose , Feminino , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/etiologia , Hidrocefalia/cirurgia , Lactente , Osteopetrose/complicações , Osteopetrose/diagnóstico por imagem , Crânio , Derivação Ventriculoperitoneal
17.
J Neurooncol ; 154(2): 237-246, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34350560

RESUMO

PURPOSE: As sphenoid wing meningiomas (SWMs) are associated with varying degrees of bony involvement, we sought to understand potential relationships between genomic subgroup and this feature. METHODS: Patients treated at Yale-New Haven Hospital for SWM were reviewed. Genomic subgroup was determined via whole exome sequencing, while the extent of bony involvement was radiographically classified as no bone invasion (Type I), hyperostosis only (Type II), tumor invasion only (Type III), or both hyperostosis and tumor invasion (Type IV). Among additional clinical variables collected, a subset of tumors was identified as spheno-orbital meningiomas (SOMs). Machine-learning approaches were used to predict genomic subgroups based on pre-operative clinical features. RESULTS: Among 64 SWMs, 53% had Type-II, 9% had Type-III, and 14% had Type-IV bone involvement; nine SOMs were identified. Tumors with invasion (i.e., Type III or IV) were more likely to be WHO grade II (p: 0.028). Additionally, tumors with invasion were nearly 30 times more likely to harbor NF2 mutations (OR 27.6; p: 0.004), while hyperostosis only were over 4 times more likely to have a TRAF7 mutation (OR 4.5; p: 0.023). SOMs were a significant predictor of underlying TRAF7 mutation (OR 10.21; p: 0.004). CONCLUSIONS: SWMs with invasion into bone tend to be higher grade and are more likely to be NF2 mutated, while SOMs and those with hyperostosis are associated with TRAF7 variants. Pre-operative prediction of molecular subtypes based on radiographic bony characteristics may have significant biological and clinical implications based on known recurrence patterns associated with genomic drivers and grade.


Assuntos
Hiperostose , Neoplasias Meníngeas , Meningioma , Genômica , Humanos , Hiperostose/diagnóstico por imagem , Hiperostose/genética , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/genética , Meningioma/diagnóstico por imagem , Meningioma/genética , Resultado do Tratamento
18.
J AAPOS ; 25(4): 245-247, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34139343

RESUMO

A 15-year-old boy with a history of autism spectrum disorder presented with bilateral progressive blurry vision and nyctalopia. Initial examinations, including optical coherence tomography scans of the macula and optic nerve, were within normal limits. Subsequent examination revealed trace pallor of the right optic nerve. Computed tomography and magnetic resonance imaging of the brain demonstrated diffuse thickening of calvarial bone with bilateral optic nerve compression. Laboratory evaluation was notable for profound vitamin A deficiency. The patient underwent optic nerve decompression and vitamin A supplementation with postoperative improvement in visual acuity of both eyes.


Assuntos
Transtorno do Espectro Autista , Hiperostose , Deficiência de Vitamina A , Adolescente , Humanos , Masculino , Nervo Óptico/diagnóstico por imagem , Crânio , Deficiência de Vitamina A/complicações , Deficiência de Vitamina A/diagnóstico
19.
Semin Arthritis Rheum ; 51(4): 957-961, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34176644

RESUMO

OBJECTIVE: A working group was established to develop a core domain set (CDS) for Chronic Nonbacterial Osteomyelitis (CNO) and Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) following the OMERACT filter 2.1. METHODS: A scoping review to identify disease-related manifestations was performed, followed by a special interest group (SIG) session at OMERACT2020 to begin the CNO/SAPHO CDS framework. RESULTS: Candidate items were identified from the scoping review and most fell under Life Impact and Pathophysiology Manifestation core areas. A SIG agreed on the need to develop a CDS for CNO and SAPHO (100%) and for children and adults (91%). CONCLUSION: Based on candidate items identified, qualitative research and Delphi surveys will be performed as next steps.


Assuntos
Acne Vulgar , Síndrome de Hiperostose Adquirida , Hiperostose , Osteíte , Osteomielite , Sinovite , Síndrome de Hiperostose Adquirida/diagnóstico , Adulto , Criança , Humanos , Osteomielite/diagnóstico , Opinião Pública
20.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 43(2): 293-299, 2021 Apr 28.
Artigo em Chinês | MEDLINE | ID: mdl-33966713

RESUMO

The human homologue of mouse progressive ankylosis protein(ANKH)is an inorganic pyrophosphate transport regulator,which regulates tissue mineralization by controlling the level of inorganic pyrophosphate.It plays an important role in the pathogenesis and development of bone and joint diseases,such as ankylosing spondylitis,craniometaphyseal dysplasia,and articular cartilage calcification.This review summarizes the progress of research on ANKH and the above-mentioned diseases.


Assuntos
Anquilose , Hiperostose , Hipertelorismo , Artropatias , Humanos , Camundongos , Mutação
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