PubMed Journals Articles About "Alendronate To Treat Polyostotic Fibrous Dysplasia And McCune-Albright Syndrome" RSS

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Showing "Alendronate Treat Polyostotic Fibrous Dysplasia McCune Albright Syndrome" PubMed Articles 1–25 of 7,900+


Fibrous dysplasia (FD) is a rare disorder characterized by pain, deformity, and pathological fractures. McCune-Albright syndrome (MAS) includes a combination of FD, hyperfunctional endocrinopathy, and/or café-au-lait pigmentation. Surgery is generally ineffective in treating FD. This study aims to evaluate the efficacy and safety of bisphosphonates (BPs), and to compare the efficacy of different bisphosphonates in FD patients.

Fibrous dysplasia of the jaws: Integrating molecular pathogenesis with clinical, radiological and histopathological features.

Fibrous dysplasia is a non-neoplastic developmental process that affects the craniofacial bones, characterized by painless enlargement as a result of bone substitution by abnormal fibrous tissue. Postzygotic somatic activating mutations in the GNAS1 gene cause fibrous dysplasia and have been extensively investigated, as well as being helpful in the differential diagnosis of the disease. Fibrous dysplasia may involve one (monostotic) or multiple bones (polyostotic), sporadically or in association with McCune...

Serum periostin levels and severity of fibrous dysplasia of bone.

Fibrous dysplasia of bone (FD) is a rare congenital bone disease, characterized by a fibrous component in the bone marrow. Periostin has been extensively researched because of its implication in various fibrotic or inflammatory diseases. Periostin may be associated with the burden or the severity of FD. The case control PERIOSDYS study aimed at assessing serum periostin levels in FD patients. Sixty four patients with monostotic or polyostotic disease were included, in order to evaluate whether the concentra...

McCune-Albright Syndrome and the shepherd crook deformity.

Pathological fracture of the humerus and subsequent diagnosis of polyostotic fibrous dysplasia.

A Case of Fibrous Dysplasia with Bilateral Shepherd Crook Deformity Treated with Dynamic Hip Screw Fixation.

Fibrous dysplasia is a rare benign disorder of the skeletal system characterized by fibro-osseous proliferation with intervening areas of normal or immature bone in the intramedullary region. It can either be a monostotic (involves one bone) or a polyostotic (involves more than one bone) presentation and usually occurs equally in males and females. Deformities such as scoliosis and shepherd's crook deformity are frequently encountered in the polyostotic form. We report the management of a rare managed case ...

A new multi-system disorder caused by the Gαs mutation p.F376V.

The alpha-subunit of the stimulatory G-protein (Gαs) links numerous receptors to adenylyl cyclase. Gαs, encoded by GNAS, is expressed predominantly from the maternal allele in certain tissues. Thus, maternal heterozygous loss-of-function mutations cause hormonal resistance, as in pseudohypoparathyroidism type Ia, while somatic gain-of-function mutations cause hormone-independent endocrine stimulation, as in McCune-Albright Syndrome.

Fibrous dysplasia with secondary aneurysmal bone cyst-a rare case report and literature review.

Fibrous dysplasia (FD) and aneurysmal bone cyst (ABC) are uncommon non-neoplastic intraosseous lesions, and the occurrence of concomitant FD and ABC is extremely rare.

Dental Implants in a Patient with Left Mandibular Fibrous Dysplasia: Two-Year Outcomes on the Normal and Affected Sides.

Dental rehabilitation raises specific challenges in patients with mandibular fibrous dysplasia. We report the 2-year post-operative outcomes on the normal and affected sides in a 64-year-old female with focal left mandibular fibrous dysplasia and bilateral posterior edentulism. On the left, bone shaving of the lesion to restore sufficient vertical height was followed by the insertion of two dental implants. Three dental implants were inserted into the normal bone on the right. Dental prostheses were added 6...

Cystic degeneration of craniofacial fibrous dysplasia: a case report.

Fibrous dysplasia (FD) is most often a slowly progressive benign disease in which the normal bone structure is replaced by fibrous and osteoid tissue. Case description A 16-year-old adolescent, known with FD in the sphenoid bone, suffered an acute decreased visual acuity with papilledema on the left eye. The radiological images were best compatible with cystic degeneration of the known FD with optic nerve compression in the optic canal. Decompression of the optic nerve was performed through an endoscopic ex...

Mosaic Effects of Growth Hormone on Fibrous Dysplasia of Bone.

A new Technique: Laparoscopic Resection of Fibrous Ring and Placing Extravascular Stent in Patients with Nutcracker Syndrome: a report of 5 cases.

To evaluate the feasibility and safety of a new laparoscopic technique for resection of a fibrous ring and extravascular stent implantation in patients with nutcracker syndrome (NCS).

Clinical and Translational Pharmacological Aspects of the Management of Fibrous Dysplasia of Bone.

Fibrous dysplasia (FD) is a genetic, non-inheritable rare bone disease caused by a post-zygotic activating mutation of the alpha subunit of the stimulatory G-protein (Gαs) causing increased abnormal bone formation leading to pain, deformity and fractures. To date, no cure has been identified for FD/MAS and treatment is symptomatic and aimed at decreasing pain and/or local bone turnover. Various drugs have been used to achieve clinical improvement in FD/MAS patients including bisphosphonates and denosumab, ...

Congenital Zika syndrome associated with findings of cerebellar cortical dysplasia - Broadening the spectrum of presentation of the syndrome.

Hybrid Au@alendronate nanoparticles as dual chemo-photothermal agent for combined cancer treatment.

A gold therapeutic nanoplatform with the same molecule used as reductant, coating and therapeutic agent has been developed in a one-pot, one-phase process using alendronate, a drug from the bisphosphonate family known for its antitumor effects. In addition, the core made of gold nanoparticles (NPs) brings thermal functionalities under irradiation within the first biological window (650-900 nm). The Au@alendronate nanoplatform thus provided a combined antitumor activity through drug delivery and photothermal...

Comparison of 3 Pediatric Pelvic Osteotomies for Acetabular Dysplasia Using Patient-specific 3D-printed Models.

Children with developmental dysplasia of the hip may require a pelvic osteotomy to treat acetabular dysplasia. Three osteotomies are commonly performed in these patients (Pemberton, Dega, and San Diego), though comparative studies of each are limited. The purpose of this study was to compare changes in acetabular morphology (acetabular version, volume, and octant coverage angles) created by these 3 osteotomies using matched patient-specific 3D-printed pelvic models.

Best Practice Guidelines regarding Prenatal Evaluation and Delivery of Patients with Skeletal Dysplasia.

Skeletal dysplasia comprises a heterogeneous and collectively common group of inherited disorders of development, growth, and maintenance of the human skeleton. There is potential for increased perinatal morbidity and mortality in pregnant women who themselves have skeletal dysplasia, and for affected fetuses where skeletal dysplasia is suspected in utero.

Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia.

Basan syndrome is an autosomal dominant ectodermal dysplasia (ED) with congenital adermatoglyphia, transient neonatal acral bullae, and congenital facial milia. Autosomal dominant adermatoglyphia (ADG) is characterized as adermatoglyphia with hypohidrosis. Recently mutations in the skin-specific isoform of the gene SMARCAD1 have been found in both syndromes. This report proposes to unify these two previously distinct ED, into one syndrome. We offer a new acronym: SMARCAD syndrome (SMARCAD1-associated congen...

Type VI syndactyly with skeletal dysplasia: a new syndrome?

Rex shunt as a treatment of Type II Abernethy malformation with severe dysplasia of portal vein.

Ligation of abnormal portosystemic shunt has been used to treat type II Abernethy malformation, but it may not be suitable for all of patients. In this study, Rex shunt were carried out to manage type II Abernethy malformation with portal venous dysplasia. The outcomes are evaluated retrospectively.

Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.

Lowry-Wood syndrome (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with microcephaly, developmental delay and intellectual disability, and eye involvement. Pathogenic variants in RNU4ATAC, an RNA of the minor spliceosome important for the excision of U12-dependent introns, have been recently associated with LWS. This gene had previously also been associated with microcephalic osteodysplastic primordial dwarfism (MOPD) and Roifman syndrome (RS), two distinct condition...

Epithelioid Fibrous Histiocytoma: A Concise Review.

Epithelioid fibrous histiocytoma (EFH) is a rare lesion believed to arise from dermal microvascular unit fibroblasts and dendritic histiocytes. EFH has long been considered a morphologic variant of benign fibrous histiocytoma (dermatofibroma), with prominent epithelioid cytomorphology that can mimic both vascular and melanocytic neoplasms. The molecular basis for the relationship between EFH and benign fibrous histiocytoma has remained largely unknown, with some authors suggesting that EFH represents an ent...

Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care.

Geleophysic dysplasia is a rare skeletal dysplasia often complicated by progressive cardiac disease. Information about long-term outcomes is limited. A clinical update of the oldest surviving patient described with geleophysic dysplasia type 1 is provided. Special note is made in relation to the cardiac disease and interventions. Genetic testing of ADAMTSL2 revealed a previously reported missense mutation as well as a novel nonsense mutation, which can be added to the list of causative mutations in geleophy...

Bronchopulmonary dysplasia in neonates born to mothers with preeclampsia: Impact of small for gestational age.

Small for gestational age and preeclampsia have both been described as risk factors for bronchopulmonary dysplasia in preterm neonates, but their respective role in the occurrence of bronchopulmonary dysplasia is debated. We evaluated the relation between small for gestational age and bronchopulmonary dysplasia in neonates born to mothers with preeclampsia. We hypothesized that low birth weight is still associated with bronchopulmonary dysplasia in this homogeneous population.

Recurrent Severe Hypoinsulinemic Hypoglycemia Responsive to Temozolomide and Bevacizumab in a Patient With Doege-Potter Syndrome.

Nonislet cell tumor hypoglycemia is rare. We highlight the diagnosis and treatment of recurrent severe hypoglycemia in a 49-year-old woman with malignant solitary fibrous tumor of the pleura (Doege-Potter syndrome). The clinical, laboratory and radiologic findings of the case are presented and a brief literature review is provided. Of note, imaging studies showed a large mass in the right hemithorax and pathology and immunehistochemical stains confirmed a malignant solitary fibrous tumor of the pleura. She ...

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