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    Cost-effectiveness of the 2014 U.S. Preventive Services Task Force (USPSTF) Recommendations for Intensive Behavioral Counseling Interventions for Adults With Cardiovascular Risk Factors.
    Diabetes Care 2017 Feb 17. Epub 2017 Feb 17.
    Division of Diabetes Translation, Centers for Disease Control and Prevention, Atlanta, GA.
    Objective: In 2014, the U.S. Preventive Services Task Force (USPSTF) recommended behavioral counseling interventions for overweight or obese adults with the following known cardiovascular disease risk factors: impaired fasting glucose (IFG), hypertension, dyslipidemia, or metabolic syndrome. Read More

    Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas.
    Virchows Arch 2017 Feb 10. Epub 2017 Feb 10.
    Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
    McCune-Albright Syndrome (MAS) is a rare sporadic syndrome caused by post-zygotic mutations in the GNAS oncogene, leading to constitutional mosaicism for these alterations. Somatic activating GNAS mutations also commonly occur in several gastrointestinal and pancreatic neoplasms, but the spectrum of abnormalities in these organs in patients with MAS has yet to be systematically described. We report comprehensive characterization of the upper gastrointestinal tract in seven patients with MAS and identify several different types of polyps, including gastric heterotopia/metaplasia (7/7), gastric hyperplastic polyps (5/7), fundic gland polyps (2/7), and a hamartomatous polyp (1/7). Read More

    Fibrous Dysplasia versus Juvenile Ossifying Fibroma: A Dilemma.
    Case Rep Dent 2016 22;2016:6439026. Epub 2016 Dec 22.
    Department of Oral Medicine and Radiology, AJ Institute of Dental Sciences, Mangalore, Karnataka, India.
    Fibrous dysplasia (FD) is a condition characterized by excessive proliferation of bone forming mesenchymal cells which can affect one bone (monostotic type) or multiple bones (polyostotic type). It is predominantly noticed in adolescents and young adults. Fibrous dysplasia affecting the jaws is an uncommon condition. Read More

    Monostotic fibrous dysplasia of the metacarpal: a case report.
    Rev Bras Ortop 2016 Nov-Dec;51(6):730-734. Epub 2016 Oct 26.
    Hospital Sarah Brasília, Cirurgia Plástica e Cirurgia de Mão, Brasília, DF, Brazil.
    Fibrous dysplasia is a bone disease characterized by abnormal differentiation of fibrous tissue in the bones; it is often asymptomatic. It may affect one bone (monostotic) or several bones (polyostotic). The monostotic form primarily affects the ribs, but hardly ever affects the hand. Read More

    Clinical characteristics and management of growth hormone excess in patients with McCune-Albright syndrome.
    Eur J Endocrinol 2017 Mar 22;176(3):295-303. Epub 2016 Dec 22.
    Key Laboratory of Endocrinology of National Health and Family Planning CommissionDepartment of Endocrinology
    Objective: McCune-Albright syndrome (MAS) is a sporadic, postzygotic disease presenting with fibrous dysplasia, cafe-au-lait spots and multiple endocrinopathies. Growth hormone (GH) excess is an uncommon but potentially severe complication of MAS. This study aims to describe the clinical manifestations of GH excess in the context of MAS and analyze the responses of these patients to treatments. Read More

    Prevalence of Different Forms and Involved Bones of Craniofacial Fibrous Dysplasia.
    J Craniofac Surg 2017 Jan;28(1):21-25
    Cranio-maxillo-facial Surgery Department, Plastic Surgery Hospital of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
    Background: The purposes of this study were to analyze the prevalence of various craniofacial bones involved in patients with craniofacial fibrous dysplasia (CFD) and to demonstrate the most common form and bone involvement in patients with CFD for surgeons.

    Methods: To address the research purpose, the authors designed and performed a systematic review with meta-analysis. A comprehensive electronic search without date was performed in August 2013. Read More

    Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia.
    Orphanet J Rare Dis 2016 Nov 28;11(1):160. Epub 2016 Nov 28.
    Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Oxford NIHR Musculoskeletal Biomedical Research Unit, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.
    Background: Health-related quality of life of adults with osteogenesis imperfecta (OI), fibrous dysplasia (FD) and X-linked hypophosphatemia (XLH) remains poorly described. The aim of this study was to describe the HRQoL of adults with osteogenesis imperfecta, fibrous dysplasia and X-linked hypophophataemia and perform a cost-utility simulation to calculate the maximum cost that a health care system would be willing to pay for a hypothetical treatment of a rare bone disease.

    Results: Participants completed the EQ-5D-5 L questionnaire between September 2014 and March 2016. Read More

    Nonclassic features of pseudohypoparathyroidism type 1A.
    Curr Opin Endocrinol Diabetes Obes 2017 Feb;24(1):33-38
    aDivision of Pediatric Endocrinology, Vanderbilt University, Nashville, TN bEndocrine Unit and Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
    Purpose Of Review: To provide readers with a review of contemporary literature describing the evolving understanding of the pseudohypoparathyroidism type 1A (PHP1A) phenotype.

    Recent Findings: The classic features of PHP1A include multihormone resistance and the Albright Hereditary Osteodystrophy phenotype (round facies, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity. Obesity may be because of a decrease in resting energy expenditure because most patients do not report significant hyperphagia. Read More

    McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism - case report.
    Clujul Med 2016 20;89(4):559-564. Epub 2016 Oct 20.
    Department of Radiology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
    McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations. Read More

    A unique case of multiple non-ossifying fibromas with polyostotic monomelic distribution and aggressive clinical course.
    Skeletal Radiol 2017 Feb 8;46(2):233-236. Epub 2016 Nov 8.
    Department of Orthopaedic Surgery, Aghia Sofia Children's Hospital, Athens, Greece.
    Multiple non-ossifying fibromas (MNOFs) occur either isolated or in association with other anomalies, are usually localized in the long bones of the lower limbs, may be radiographically confused with other skeletal lesions, and tend to heal spontaneously with the completion of the skeletal growth. Segmental distribution, either monomelic or polymelic and ipsilateral, is rare and commonly observed in the context of developmental diseases known as "RASopathies", which are caused by mutations in genes that encode components or regulators within the Ras/mitogen-activated protein kinase signaling pathway. We describe here the radiographic and pathologic features of an 18-year-old Caucasian boy, whose clinical history started at the age of 3 when the diagnosis of aneurysmal bone cyst was made on a lytic lesion of his left clavicle. Read More

    [Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance].
    Biol Aujourdhui 2016 4;210(3):167-170. Epub 2016 Nov 4.
    Service de Génétique et Biochimie Moléculaires, AP-HP Hôpital Cochin, Paris, France et Centre de référence des maladies rares du métabolisme phosphocalcique, Filière OSCAR  - UMR-S 1169 Inserm-UP Sud, Le Kremlin-Bicêtre, France.
    Acrodysostosis refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsa, as observed in PHP1a. Read More

    Anti-Müllerian hormone as a marker of steroid and gonadotropin action in the testis of children and adolescents with disorders of the gonadal axis.
    Int J Pediatr Endocrinol 2016 28;2016:20. Epub 2016 Oct 28.
    Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina ; Departamento de Biología Celular, Histología, Embriología y Genética, Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina.
    In pediatric patients, basal testosterone and gonadotropin levels may be uninformative in the assessment of testicular function. Measurement of serum anti-Müllerian hormone (AMH) has become increasingly widespread since it provides information about the activity of the male gonad without the need for dynamic tests, and also reflects the action of FSH and androgens within the testis. AMH is secreted in high amounts by Sertoli cells from fetal life until the onset of puberty. Read More

    Osteosarcoma of the Mandible Arising in Fibrous Dysplasia-A Case Report.
    J Oral Maxillofac Surg 2016 Nov 21;74(11):2229.e1-2229.e4. Epub 2016 Jun 21.
    Department Chair, Division Chief, and Associate Professor, Department of Oral and Maxillofacial Surgery, Case Western Reserve University and University Hospitals/Case Medical Center, Cleveland, OH. Electronic address:
    Fibrous dysplasia (FD) is a benign fibro-osseous lesion that typically behaves as a painless, slowly expanding tumor. On rare occasion, FD will undergo malignant transformation. When sarcomatous change occurs, osteosarcoma is the typical variant, followed by chondrosarcoma and fibrosarcoma. Read More

    Etiology and therapeutic outcomes of children with gonadotropin-independent precocious puberty.
    Ann Pediatr Endocrinol Metab 2016 Sep 30;21(3):136-142. Epub 2016 Sep 30.
    Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
    Purpose: This study was performed to investigate the etiology, clinical features, and outcomes of patients with gonadotropin-independent precocious puberty (GIPP).

    Methods: The study included 16 patients (14 female and 2 male patients) who manifested secondary sexual characteristics, elevated sex hormones, or adrenal androgens with prepubertal luteinizing hormone levels after gonadotropin releasing hormone stimulation diagnosed between May 1994 and December 2015. Patients with congenital adrenal hyperplasia were excluded. Read More

    Malignant transformation of polyostotic fibrous dysplasia with aberrant keratin expression.
    Hum Pathol 2016 Oct 19. Epub 2016 Oct 19.
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
    Malignant transformation of fibrous dysplasia (FD) is exceedingly rare, occurring in <1% of all FD cases, and has been described in both monostotic and polyostotic forms of this entity. We report a case of a large proximal femur mass arising in a 45-year-old man. The biopsy revealed a high-grade pleomorphic malignancy that focally expressed multiple keratins. Read More

    Fibrous dysplasia. Clinical review and therapeutic management.
    Med Clin (Barc) 2016 Dec 17;147(12):547-553. Epub 2016 Oct 17.
    Servicio de Reumatología, Hospital Clínic, Universidad de Barcelona, Barcelona, España.
    Fibrous dysplasia is a skeletal disorder that is associated with a wide spectrum of clinical manifestations, including localized asymptomatic forms and extensive severe forms with severe bone deformities and endocrinological alterations, depending on age, location, extent and associated processes. Although the treatment of choice is based on bisphosphonates, the therapeutic efficacy of these agents in the control of disease activity remains uncertain. This article reviews the current data available on the treatment of this disease as well as the preliminary data on new therapeutic approaches. Read More

    Screening for genetic causes of growth hormone hypersecretion.
    Growth Horm IGF Res 2016 Oct - Dec;30-31:52-57. Epub 2016 Oct 12.
    Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium. Electronic address:
    Growth hormone (GH) secreting pituitary tumors may be caused by genetic abnormalities in a variety of genes including AIP, MEN1, CDKN1B, and PRKAR1A. These can lead to GH secreting pituitary adenomas as an isolated occurrence (e.g. Read More

    Novel Genetic Causes of Pituitary Adenomas.
    Clin Cancer Res 2016 Oct;22(20):5030-5042
    Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
    Recently, a number of novel genetic alterations have been identified that predispose individuals to pituitary adenomas. Clinically relevant pituitary adenomas are relatively common, present in 0.1% of the general population. Read More

    Polyostotic Fibrous Dysplasia in McCune-Albright Syndrome Demonstrated on 68Ga-DOTATATE PET/CT.
    Clin Nucl Med 2016 Dec;41(12):982-985
    From the *Nuclear Medicine and PET Department, Nepean Hospital, Penrith; and †Nepean Medical School, University of Sydney, New South Wales, Australia.
    A 33-year-old woman with McCune-Albright syndrome was referred for a Ga-DOTATATE PET/CT study for evaluation and staging of a biopsy-proven pancreatic tail neuroendocrine tumor. The scan demonstrated intense focal octreopeptide uptake corresponding to the known neuroendocrine tumor at the pancreatic tail/splenic hilum. There was no evidence of octreopeptide-avid metastases. Read More

    Calciphylaxis: A Disease of Pannicular Thrombosis.
    Mayo Clin Proc 2016 Oct;91(10):1395-1402
    Department of Medicine, Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN.
    Objective: To identify coagulation risk factors in patients with calciphylaxis and the relationship between anticoagulation use and overall survival.

    Patients And Methods: Study subjects were 101 patients with calciphylaxis seen at Mayo Clinic from 1999 to September 2014. Data including thrombophilia profiles were extracted from the medical records of each patient. Read More

    [Fibrous dysplasia: a heterogeneous disease].
    Ned Tijdschr Geneeskd 2016 ;160(0):D304
    LUMC, Centrum voor Botkwaliteit, Leiden.
    Fibrous dysplasia is a rare genetic bone disorder with a wide variation in clinical expression, ranging from asymptomatic patients to severely affected patients with extensive bone disease, pain, repetitive fractures and deformities and serious endocrinological symptoms (McCune-Albright syndrome). Here, we report on three different cases of fibrous dysplasia. First, a 46-year-old woman with a small solitary lesion in the proximal femur. Read More

    Genetics of gigantism and acromegaly.
    Growth Horm IGF Res 2016 Oct - Dec;30-31:37-41. Epub 2016 Aug 10.
    Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA. Electronic address:
    Gigantism and acromegaly are rare disorders that are caused by excessive GH secretion and/or high levels of its mediator, IGF-1. Gigantism occurs when excess GH or IGF-1 lead to increased linear growth, before the end of puberty and epiphyseal closure. The majority of cases arise from a benign GH-secreting pituitary adenoma, with an incidence of pituitary gigantism and acromegaly of approximately 8 and 11 per million person-years, respectively. Read More

    Outcome of Long-Term Bisphosphonate Therapy in McCune-Albright Syndrome and Polyostotic Fibrous Dysplasia.
    J Bone Miner Res 2017 Feb 8;32(2):264-276. Epub 2016 Nov 8.
    Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
    McCune-Albright syndrome (MAS) is a rare bone disorder characterized by fibrous dysplasia (FD), endocrinopathies, and café-au-lait patches. FD patients have been shown to respond favorably to treatment with bisphosphonates, but data are scarce in the more severe polyostotic form (PFD), including MAS, and factors determining treatment outcome are not known, particularly in the long-term. We evaluated the biochemical (bone turnover markers [BTMs]) and clinical (pain reduction) outcome of bisphosphonate therapy in 11 patients with MAS and 30 patients with PFD: median duration of treatment 6 years (range, 2 to 25 years). Read More

    Syndromic Gastric Polyps: At the Crossroads of Genetic and Environmental Cancer Predisposition.
    Adv Exp Med Biol 2016;908:347-69
    Department of Pathology, The Johns Hopkins University School of Medicine, 401 N Broadway Weinberg 2242, Baltimore, MD, 21231, USA.
    Gastric polyps occur in 1-4 % of patients undergoing gastroscopy. Although most are sporadic, some gastric polyps are part of an underlying hereditary syndrome. Gastric polyps can be seen in each of the well-known gastrointestinal polyposis syndromes, but also in Lynch syndrome and in several rare not primarily gastrointestinal syndromes. Read More

    Skin manifestations of growth hormone-induced diseases.
    Rev Endocr Metab Disord 2016 Sep;17(3):259-267
    Division of Endocrinology, Diabetes and Metabolism, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
    The human skin is a well-organized organ bearing different types of cells in a well-structured interference to each other including epidermal and follicular keratinocytes, sebocytes, melanocytes, dermal papilla cells and fibroblasts, endothelial cells, sweat gland cells as well as nerves. Several hormones act on different cell types of the skin, while it is also considered an endocrine organ secreting hormones that act at several sites of the organism. GH receptors are found in almost all cell types forming the skin, while IGF-1 receptors' expression is restricted to the epidermal keratinocytes. Read More

    Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome.
    Eur J Endocrinol 2016 Nov 25;175(5):477-483. Epub 2016 Aug 25.
    Section on Skeletal Disorders and Mineral HomestasisCraniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA.
    Objective: McCune-Albright syndrome (MAS) is a rare disorder with a broad spectrum including precocious puberty (PP) due to recurrent estrogen-secreting ovarian cysts. This study evaluates the long-term safety and efficacy of letrozole treatment in large cohort of girls with MAS-associated PP.

    Design: Retrospective cohort analysis. Read More

    Growth hormone and risk for cardiac tumors in Carney complex.
    Endocr Relat Cancer 2016 Sep 18;23(9):739-46. Epub 2016 Jul 18.
    National Institute of Child Health and Human Development (NICHD)NIH, Bethesda, Maryland, USA
    Carney complex (CNC) is a multiple neoplasia syndrome that is caused mostly by PRKAR1A mutations. Cardiac myxomas are the leading cause of mortality in CNC patients who, in addition, often develop growth hormone (GH) excess. We studied patients with CNC, who were observed for over a period of 20 years (1995-2015) for the development of both GH excess and cardiac myxomas. Read More

    [Rarer causes of thyrotoxicosis].
    Przegl Lek 2016 ;73(4):250-61
    Thyrotoxicosis is a pathological syndrome in which tissue is exposed to excessive amounts of circulating thyroid hormones. Including its subclinical form, it is considered as one of the most frequent endocrine disorders in the general population. If not detected in a timely fashion, thyrotoxicosis can have serious health consequences. Read More

    The Role of gsp Mutations on the Development of Adrenocortical Tumors and Adrenal Hyperplasia.
    Front Endocrinol (Lausanne) 2016 27;7:104. Epub 2016 Jul 27.
    Unidade de Suprarrenal, Disciplina de Endocrinologia e Metabologia, Laboratorio de Hormonios e Genetica Molecular LIM/42, Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo , Sao Paulo , Brazil.
    Somatic GNAS point mutations, commonly known as gsp mutations, are involved in the pathogenesis of McCune-Albright syndrome (MAS) and have also been described in autonomous hormone-producing tumors, such as somatotropinoma, corticotrophoma, thyroid cancer, ovarian and testicular Leydig cell tumors, and primary macronodular adrenocortical hyperplasia (PMAH) (1-3). The involvement of gsp mutations in adrenal tumors was first described by Lyons et al. Since then, several studies have detected the presence of gsp mutations in adrenal tumors, but none of them could explain its presence along or the mechanism that leads to tumor formation and hormone hypersecretion. Read More

    Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study.
    Orphanet J Rare Dis 2016 Aug 9;11(1):113. Epub 2016 Aug 9.
    Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.
    Background: McCune-Albright syndrome (MAS) is a rare disease defined by the triad of fibrous dysplasia (FD), café au lait spots, and peripheral precocious puberty (PP). Because of the rarity of this disease, only a few individuals with MAS have been reported in Korea. We describe the various clinical and endocrine manifestations and genetic analysis of 14 patients with MAS in Korea. Read More

    Lower limbs deformities in patients with McCune-Albright syndrome: Tomography and treatment.
    Afr J Paediatr Surg 2016 Jul-Sep;13(3):125-30
    Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.
    Background: The skeletal changes in McCune-Albright disease are usually severe because of the polyostotic form of the disease. Trendelenberg gait and limited mobility are the most common presenting features. The constellation of Café-au lait spots and polyostotic bone involvement is commonly referred to as McCune-Albright's syndrome (MAS). Read More

    Celecoxib treatment of fibrous dysplasia (FD) in a human FD cell line and FD-like lesions in mice with protein kinase A (PKA) defects.
    Mol Cell Endocrinol 2017 Jan 4;439:165-174. Epub 2016 Aug 4.
    Section on Endocrinology and Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA. Electronic address:
    Osteochondromyxomas (OMX) in the context of Carney complex (CNC) and fibrous dysplasia (FD)-like lesions (FDLL) in mice, as well as isolated myxomas in humans may be caused by inactivation of PRKAR1A, the gene coding for the type 1a regulatory subunit (R1α) of cAMP-dependent protein kinase (PKA). OMXs and FDLL in mice lacking Prkar1a grow from abnormal proliferation of adult bone stromal cells (aBSCs). Prkar1a and Prkaca (coding for Cα) haploinsufficiency leads to COX2 activation and prostaglandin E2 (PGE2) production that, in turn, activates proliferation of aBSCs. Read More

    Fibrous dysplasia of bone: craniofacial and dental implications.
    Oral Dis 2016 Aug 5. Epub 2016 Aug 5.
    Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
    Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and elevated levels of cyclic AMP, which act on downstream signaling pathways and cause normal bone to be replaced with fibrous tissue and abnormal (woven) bone. The bone disease may occur in one bone (monostotic), multiple bones (polyostotic), or in combination with hyperfunctioning endocrinopathies and hyperpigmented skin lesions (in the setting of McCune-Albright Syndrome). FD is common in the craniofacial skeleton, causing significant dysmorphic features, bone pain, and dental anomalies. Read More

    Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives.
    Curr Osteoporos Rep 2016 Oct;14(5):178-86
    Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive Room 228 MSC 4320, Bethesda, MD, 20892, USA.
    Fibrous dysplasia (FD) is an uncommon and debilitating skeletal disorder resulting in fractures, deformity, functional impairment, and pain. It arises from post-zygotic somatic activating mutations in GNAS, in the cAMP-regulating transcript α-subunit, Gsα. Constitutive Gs signaling results in activation of adenylyl cyclase and dysregulated cAMP production. Read More

    A Case of Primary Hypogonadism with Features of Albright's Syndrome.
    J Reprod Infertil 2016 Jul-Sep;17(3):188-90
    Department of Endocrinology, Mission Hospital, Durgapur, West Bengal, India.
    Background: McCune Albright syndrome is rare with an estimated prevalence of 1 in 100,000 to 1 in 1,000,000 persons. The classical clinical triad consists of fibrous dysplasia of the bone, café-au-lait skin spots and precocious puberty. However, in rare cases, there may be primary hypogonadism and amenorrhea. Read More

    Neonatal McCune-Albright syndrome with survival beyond two years.
    Am J Med Genet A 2016 Nov 13;170(11):3008-3012. Epub 2016 Jul 13.
    Division of Neonatal-Perinatal Medicine, Department of Pediatrics, Oregon Health and Science University, Portland, Oregon.
    McCune-Albright syndrome (MAS) is a rare disease resulting from a somatic, mosaic mutation of GNAS1 encoding the Gs α subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades. We present a patient with neonatal MAS who initially presented with neonatal diabetes and concern for congenital cardiac disease, and subsequently was found to have significant ACTH-independent neonatal Cushing syndrome. Her course included multi-system organ involvement, although she initially did not have obvious findings consistent with the MAS classic triad of café-au-lait macules, fibrous dysplasia, or peripheral precocious puberty. Read More

    Prognostic Factors From an Epidemiologic Evaluation of Fibrous Dysplasia of Bone in a Modern Cohort: The FRANCEDYS Study.
    J Bone Miner Res 2016 Dec 13;31(12):2167-2172. Epub 2016 Jul 13.
    Department of Rheumatology, Edouard Herriot Hospital, Lyon, France.
    Fibrous dysplasia of bone (FD) is a rare genetic but sporadic bone disease that can be responsible for bone pain, fracture, and bone deformity. The prognosis may be difficult to establish because of the wide spectrum of disease severity. We have analyzed the data from the French National Reference center for FD. Read More

    Recurrent Monostotic Fibrous Dysplasia in the Mandible.
    Case Rep Dent 2016 31;2016:3920850. Epub 2016 May 31.
    Private Physical Therapist, 1171 Pasaje Frankfurt, 4780000 Temuco, Chile.
    Fibrous dysplasia (FD) is a condition in which normal bone marrow is replaced by an abnormal proliferation of new fibrous connective tissue. Female patient, white, 20 years old, attended the dental clinic reporting a slow increase in volume in the right mandible region over the last 5 years. She was examined by imaging: the panoramic X-ray revealed a lesion with the appearance of ground glass while the cone-beam computed tomography showed an extensive lesion in the region of the right hemimandible. Read More

    An Unusual Case of Polyostotic Fibrous Dysplasia in a 53-Year-Old Woman With Low Back Pain.
    J Chiropr Med 2016 Jun 25;15(2):149-54. Epub 2016 May 25.
    Chair, Department of Radiology, Logan University, Chesterfield, MO.
    Objective: The purpose of this case report is to describe the features of an unusual presentation of fibrous dysplasia.

    Clinical Features: A 53-year-old woman had low back pain and numbness in the anterior upper left thigh that started 3 years earlier after a fall. She experienced pain during active lumbar flexion and extension range of motion. Read More

    [Differential diagnosis and management of intramuscular myxomas: A review of our experience].
    Cir Cir 2016 Jun 16. Epub 2016 Jun 16.
    Servicio de Cirugía General y Digestiva, Hospital General Universitario de Castellón, Castellón, España.
    Background: Intramuscular myxoma is a rare benign soft tissue tumour of mesenchymal origin, which appears as a painless mass of slow growth. Early diagnosis is important in order to differentiate it from other entities, especially soft tissue sarcoma.

    Clinical Cases: Two cases, both women with a mean age of 52. Read More

    Single Stage Treatment of Non - Union of Transcervical Neck Femur Fracture with Shepherd Crook Deformity of Proximal Femur in A Case of Fibrous Dysplasia using Dynamic Hip Screw Fixation.
    J Orthop Case Rep 2015 Jul-Sep;5(3):41-4
    Department of Orthopaedics, Seth G. S. Medical College and K. E. M. Hospital. Mumbai. India.
    Introduction: 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 like scoliosis and shepherd's crook deformity are frequently encountered in the polyostotic form. Read More

    Fibrous Dysplasia with Massive Cartilaginous Differentiation (Fibrocartilaginous Dysplasia) in the Proximal Femur: A Case Report and Review of the Literature.
    Case Rep Oncol 2016 Jan-Apr;9(1):126-33. Epub 2016 Feb 19.
    Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.
    Fibrous dysplasia (FD) is a monostotic or polyostotic benign bone lesion with spindle-cell proliferation in woven bone and stroma. Rarely, cartilaginous differentiation can be seen in the lesions of FD. FD with massive cartilaginous differentiation is called fibrocartilaginous dysplasia (FCD) and is considered a rare variant of FD. Read More

    Single Gene and Syndromic Causes of Obesity: Illustrative Examples.
    Prog Mol Biol Transl Sci 2016 23;140:1-45. Epub 2016 Mar 23.
    Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, United States of America. Electronic address:
    Obesity is a significant health problem in westernized societies, particularly in the United States where it has reached epidemic proportions in both adults and children. The prevalence of childhood obesity has doubled in the past 30 years. The causation is complex with multiple sources, including an obesity promoting environment with plentiful highly dense food sources and overall decreased physical activity noted for much of the general population, but genetic factors clearly play a role. Read More

    Surgical Management of Polyostotic Craniofacial Fibrous Dysplasia: Long-Term Outcomes and Predictors for Postoperative Regrowth.
    Plast Reconstr Surg 2016 Jun;137(6):1833-9
    Bethesda and Chevy Chase, Md.; Washington, D.C.; and Knoxville, Tenn. From the Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, the Office of the Clinical Director, National Institute of Dental and Craniofacial Research, National Institutes of Health, the Department of Plastic Surgery, Georgetown University and Medical Center; the Division of Endocrinology and Diabetes, Bone Health Program, Division of Orthopaedics and Sports Medicine, Children's National Health System; and SouthEast Eye Specialists, PLLC.
    Background: The mainstay of treatment for craniofacial fibrous dysplasia is surgical; however, optimal indications and techniques are poorly understood, particularly in polyostotic disease and McCune-Albright syndrome. This study investigated surgical indications and risk factors for recurrence in a large cohort.

    Methods: One hundred thirty-three craniofacial fibrous dysplasia subjects in a natural history study were evaluated. Read More

    Craniospinal Polyostotic Fibrous Dysplasia, Aneurysmal Bone Cysts, and Chiari Type 1 Malformation Coexistence in a Patient with McCune-Albright Syndrome.
    Pediatr Neurosurg 2016 29;51(5):253-6. Epub 2016 Apr 29.
    Department of Neurosurgery, Bahx00E7;ex015F;ehir University School of Medicine, Goztepe Medical Park Hospital, Istanbul, Turkey.
    Aneurysmal bone cysts (ABCs) are defined as benign cystic lesions of bone composed of blood-filled spaces. ABCs may be a secondary pathology superimposed on fibrous dysplasia (FD). Concomitant FD and ABC in relation with McCune-Albright syndrome is an extremely rare condition. Read More

    [Place of the microscopic examination in the diagnosis of costal fibrous dysplasia].
    Rev Pneumol Clin 2016 May 29;72(3):207-12. Epub 2016 Apr 29.
    Department of pathology, Abderrahman Mami Hospital, 2037 Tunis, Tunisie.
    Background: Fibrous dysplasia of bone is a rare benign lesion characterized by the coexistence of a fibrous tissue and an immature osteogenesis. Costal localization is rare and may be monostotic or polyostotic. The diagnosis may be suspected based on clinical and radiological findings. Read More

    Knowledge, Attitudes, and Risk for Sudden Unexpected Infant Death in Children of Adolescent Mothers: A Qualitative Study.
    J Pediatr 2016 Jul 21;174:78-83.e2. Epub 2016 Apr 21.
    Pulmonary Section, Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO.
    Objective: To investigate practices, knowledge, attitudes, and beliefs regarding infant sleep among adolescent mothers, a demographic at high risk for sudden unexpected infant death, and to identify novel public health interventions targeting the particular reasons of this population.

    Study Design: Seven targeted focus groups including 43 adolescent mothers were conducted at high school daycare centers throughout Colorado. Focus groups were recorded, transcribed, validated, and then analyzed in NVivo 10. Read More

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