355 results match your criteria Caffey Disease Imaging


Attentional bias modification treatment for depression: Study protocol for a randomized controlled trial.

Contemp Clin Trials 2018 Dec 26;75:59-66. Epub 2018 Oct 26.

University of Texas at Austin, USA.

Theoretical models and empirical research point to negatively biased attention as a maintaining factor in depression. Although preliminary studies suggest experimentally modifying attentional biases (i.e. Read More

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December 2018
1 Read

Contribution of DNA replication to the FAM111A-mediated simian virus 40 host range phenotype.

J Virol 2018 Oct 17. Epub 2018 Oct 17.

Program in Virology, Division of Medical Sciences, Harvard Medical School, Boston, Massachusetts, USA

Host range mutants (HR) of simian virus 40 (SV40) containing mutations in the C-terminus of large T antigen fail to replicate efficiently or form plaques in restrictive cell types. HR mutant viruses exhibit impairments at several stages of the viral life cycle, including early and late gene and protein expression, DNA replication and virion assembly, although the underlying mechanism for these defects is unknown. Host protein FAM111A, whose depletion rescues early and late gene expression and plaque formation for SV40 HR viruses, has been shown to play a role in cellular DNA replication. Read More

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October 2018
4 Reads

Garre's Osteomyelitis of the Mandible Caused by Infected Tooth.

Case Rep Dent 2018 8;2018:1409539. Epub 2018 Jul 8.

Department of Oral and Maxillofacial Radiology, Faculty of Dentistry, Ataturk University, Erzurum, Turkey.

Aim: Garre's osteomyelitis is a local thickening of the periosteum caused by a slight irritation or infection. We aimed to present the extraoral, intraoral, and radiographic findings and postoperative pursuits of two patients diagnosed with Garre's osteomyelitis. In this case report, although clinical findings indicate infection source, these clinical findings are strongly supported by cone-beam computed tomography images. Read More

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The rice blast resistance gene Ptr encodes an atypical protein required for broad-spectrum disease resistance.

Nat Commun 2018 05 23;9(1):2039. Epub 2018 May 23.

Department of Plant Pathology and Environmental Microbiology, Huck Institute of the Life Sciences, The Pennsylvania State University, University Park, PA, 16802, USA.

Plant resistance genes typically encode proteins with nucleotide binding site-leucine rich repeat (NLR) domains. Here we show that Ptr is an atypical resistance gene encoding a protein with four Armadillo repeats. Ptr is required for broad-spectrum blast resistance mediated by the NLR R gene Pi-ta and by the associated R gene Pi-ta2. Read More

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May 2018
1 Read

Quintupling Inhaled Glucocorticoids to Prevent Childhood Asthma Exacerbations.

N Engl J Med 2018 Mar 3;378(10):891-901. Epub 2018 Mar 3.

From the Department of Pediatrics, University of Wisconsin School of Medicine and Public Health (D.J.J., R.F.L.J.), and the University of Wisconsin-Madison (C.A.S.) - both in Madison; the Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis (L.B.B., A.B.); the Department of Public Health Sciences, Penn State University, Hershey (D.T.M., S.B.), and the University of Pittsburgh Asthma Institute at University of Pittsburgh Medical Center-University of Pittsburgh School of Medicine (F.H.) and the Department of Pediatrics, Allegheny General Hospital (D.A.G.), Pittsburgh - all in Pennsylvania; the Department of Pediatrics, Case Western Reserve University School of Medicine, Rainbow Babies and Children's Hospital, Cleveland (J.F.C., R.E.M., K.R.); the Department of Pediatrics, Emory University, Atlanta (A.M.F.); the Divisions of Respiratory Diseases (J.M.G.) and Allergy-Immunology, Boston Children's Hospital (W.P., W.J.S., S.N.B.), Harvard Medical School, and Brigham and Women's Hospital, Harvard Medical School (E.I.) - all in Boston; the Arizona Respiratory Center, University of Arizona, Tucson (W.J.M., F.D.M.); Wake Forest University School of Medicine, Winston-Salem, NC (S.P.P.); the Departments of Pediatrics (M.D.C., N.L.), Epidemiology (M.D.C.), Biostatistics (M.D.C.), and Medicine (S.C.L.), University of California, San Francisco (UCSF), and UCSF Benioff Children's Hospital (M.D.C.) - both in San Francisco; Ann and Robert H. Lurie Children's Hospital of Chicago (J.A.P., R.G.R.), University of Illinois at Chicago (J.A.K., H.V.K.), and the Department of Pediatrics, Stroger Hospital of Cook County, Rush University Medical Center (J.N.M.) - all in Chicago; UCSF Benioff Children's Hospital Oakland, Oakland (M.B., D.L., J.M.); Nemours Children's Health System, Jacksonville (K.B., J.J.L.), and Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando (J.E.L.) - both in Florida; the Department of Pediatrics, National Jewish Health, Denver (R.C., J.T.O.); and the Department of Pediatrics, University of New Mexico, Albuquerque (H.H.R.).

Background: Asthma exacerbations occur frequently despite the regular use of asthma-controller therapies, such as inhaled glucocorticoids. Clinicians commonly increase the doses of inhaled glucocorticoids at early signs of loss of asthma control. However, data on the safety and efficacy of this strategy in children are limited. Read More

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March 2018
21 Reads

Birth Order and Maternal Age for Reported Cases of Severe Prenatal Cortical Hyperostosis (Caffey–Silverman Disease)

AJP Rep 2017 07 11;7(3):e174-e180. Epub 2017 Sep 11.

Departments of Pediatrics, Hennepin County Medical Center and University of Minnesota, Minneapolis, Minnesota.

The spectrum of prenatal cortical hyperostosis includes a mild phenotype that typically presents after 35 weeks of gestation, and a severe form that presents earlier. The skeletal and systemic manifestations of the severe phenotype remain unexplained. A review of reported cases indicates that older mothers and firstborn infants are overrepresented. Read More

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July 2017
4 Reads

Child protection and the development of child abuse pediatrics in New York City.

J Forensic Leg Med 2017 Nov 14;52:159-167. Epub 2017 Sep 14.

New York University School of Medicine, Frances L. Loeb Child Protection and Development Center, 465 First Avenue, RM GC-65, New York, NY 10016, United States. Electronic address:

The history of child abuse pediatrics reflects the development of medicine as a profession influenced by social movements reacting to poverty, economic exploitation, and child maltreatment. As physicians began to specialize in caring for children, egregious cases led them to recognize children were affected by special medical problems and diseases which were compounded by poor conditions and abuse and neglect. They developed the fields of pediatrics and child abuse pediatrics to advocate for their needs in courts and communities. Read More

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November 2017
1 Read

Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in gene.

Int J Pediatr Endocrinol 2017 25;2017. Epub 2017 Jan 25.

Department of Endocrinology, Princess Margaret Hospital, Perth, Australia.

Background: Hypoparathyroidism in children is a heterogeneous group with diverse genetic etiologies. To aid clinicians in the investigation and management of children with hypoparathyroidism, we describe the phenotype of a 6-year-old child with hypoparathyroidism and short stature diagnosed with Kenny-Caffey syndrome (KCS) Type 2 and the subsequent response to growth hormone (GH) treatment.

Case Presentation: The proband presented in the neonatal period with hypocalcemic seizures secondary to hypoparathyroidism. Read More

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January 2017
7 Reads

Canine models of human rare disorders.

Rare Dis 2016 28;4(1):e1241362. Epub 2016 Sep 28.

Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland; The Folkhälsan Institute of Genetics, Helsinki, Finland.

Millions of children worldwide are born with rare and debilitating developmental disorders each year. Although an increasing number of these conditions are being recognized at the molecular level, the characterization of the underlying pathophysiology remains a grand challenge. This is often due to the lack of appropriate patient material or relevant animal models. Read More

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September 2016

[Infantile cortical hyperostosis: Case report].

Rev Chil Pediatr 2016 Sep - Oct;87(5):401-405. Epub 2016 Mar 26.

Servicio Urgencias Pediátricas, Instituto Nacional de Pediatría, Ciudad de México, México.

Infantile Cortical Hyperostosis, or Caffey-Silverman disease, is a rare condition characterised by generalised bone proliferation mediated by an acute inflammatory process. Diagnosis can be made through clinical evaluation and X-ray studies. The course is generally self-limiting and prognosis is excellent. Read More

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April 2017
2 Reads

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

Am J Hum Genet 2016 Oct 22;99(4):974-983. Epub 2016 Sep 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy. Electronic address:

Tubulinopathies constitute a family of neurodevelopmental/neurodegenerative disorders caused by mutations in several genes encoding tubulin isoforms. Loss-of-function mutations in TBCE, encoding one of the five tubulin-specific chaperones involved in tubulin folding and polymerization, cause two rare neurodevelopmental syndromes, hypoparathyroidism-retardation-dysmorphism and Kenny-Caffey syndrome. Although a missense mutation in Tbce has been associated with progressive distal motor neuronopathy in the pmn/pmn mice, no similar degenerative phenotype has been recognized in humans. Read More

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October 2016
23 Reads

Distribution of arsenic and other metals in crayfish tissues (Procambarus clarkii) under different production practices.

Sci Total Environ 2017 Jan 14;574:322-331. Epub 2016 Oct 14.

H. Rouse Caffey Rice Research Station, Louisiana State University Agricultural Center, Rayne, LA, USA.

Louisiana is one of the world's largest producer of crayfish. Arsenic (As) and other metals (Cd, Cu, Pb and Zn) concentrations were determined in crayfish tissues, plant and soil samples collected from Louisiana paddy rice fields, where crayfish/rice rotation farming is a common practice. The samples were collected from November 2013 to April 2014 from three different crayfish farming systems. Read More

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January 2017
2 Reads

Hyperostosis in siblings.

S Afr Med J 2016 May 25;106(6 Suppl 1):S98-9. Epub 2016 May 25.

Department of Endocrinology and Metabolic Diseases, Charité-Universitätsmedizin, Berlin; and Division of Medical Genetics, Children's Hospital, University of Freiburg, Germany.

Infantile cortical hyperostosis - Caffey-Silverman disease - is a familial disorder manifesting in the late fetal period or infancy with excessive periosteal bone formation. Signs and symptoms regress spontaneously within months and result in expanded, deformed bones. The paucity of clinical symptoms may lead to delayed investigation and confusion of the remaining bone changes with those in other conditions. Read More

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May 2016
3 Reads

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

PLoS Genet 2016 05 17;12(5):e1006037. Epub 2016 May 17.

Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland.

One to two percent of all children are born with a developmental disorder requiring pediatric hospital admissions. For many such syndromes, the molecular pathogenesis remains poorly characterized. Parallel developmental disorders in other species could provide complementary models for human rare diseases by uncovering new candidate genes, improving the understanding of the molecular mechanisms and opening possibilities for therapeutic trials. Read More

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May 2016
7 Reads

Prenatal Presentation of Lethal Variant Infantile Cortical Hyperostosis (Caffey Disease).

Ultrasound Q 2016 Dec;32(4):338-341

*Department of Medical Imaging, University of Toronto; and †Abdominal Imaging Division, Obstetrical Ultrasound Centre, Sunnybrook Health Science Centre, Toronto, Ontario, Canada.

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December 2016
1 Read

Jaw Hyperostosis in Infants: Keep in Mind Caffey's Disease.

J Belg Soc Radiol 2016 Jan 29;100(1):10. Epub 2016 Jan 29.

Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, PT.

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January 2016

Familial mutation in Caffey disease with reduced penetrance: A case report.

Turk J Pediatr 2016 ;58(6):650-653

Department of Medical Genetics, Pamukkale University Faculty of Medicine, Denizli, Turkey.

Caffey disease is a rare condition of early infancy, characterized by soft tissue swelling, bone lesions, and hyperirritability. Its typical radiological finding is periosteal new bone formation. It can be sporadic or inherited in an autosomal dominant manner. Read More

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January 2016
2 Reads

[Kenny-Caffey syndrome and its related syndromes].

Nihon Rinsho 2015 Nov;73(11):1959-64

Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. Two types of KCS were known: the autosomal recessive form (KCS type 1), which is caused by mutations of the TBCE gene, and the autosomal dominant form (KCS type 2), which is caused by mutations of the FAM111A gene. TBCE mutation also causes hypoparathyroidism-retardation-dysmorphism syndrome, and FAM111A mutation also causes gracile bone dysplasia. Read More

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November 2015
5 Reads

John Caffey: Shaken Infant Syndrome.

J Emerg Med 2016 Feb 14;50(2):356-9. Epub 2015 Nov 14.

Division of Emergency Medicine, Community Hospital of the Monterey Peninsula, Monterey, California.

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February 2016
3 Reads

Impact of an Antibiotic-specific Sepsis Bundle on Appropriate and Timely Antibiotic Administration for Severe Sepsis in the Emergency Department.

J Emerg Med 2016 Jan 10;50(1):79-88.e1. Epub 2015 Dec 10.

Division of Pulmonary and Critical Care Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

Background: Guidelines recommend initiation of appropriate antimicrobial therapy within 1 h of severe sepsis diagnosis. Few sepsis bundles exist in the literature emphasizing initiation of specific antibiotic therapy.

Objective: To determine the impact of an antibiotic-specific sepsis bundle on the timely initiation of appropriate antibiotics. Read More

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January 2016
3 Reads

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.

Clin Endocrinol (Oxf) 2015 Dec 19;83(6):790-6. Epub 2015 Oct 19.

Department of Paediatrics, Asan Medical Centre Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Context: Hypoparathyroidism is characterized by hypocalcaemia, hyperphosphataemia, and low or inappropriately normal parathyroid hormone (PTH) levels. Idiopathic or genetic drivers are the predominant causes of hypoparathyroidism in paediatric-age patients.

Objective: This study investigated the aetiology and clinical course of primary hypoparathyroidism in infancy and childhood. Read More

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December 2015
9 Reads

Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype.

Quant Imaging Med Surg 2015 Jun;5(3):476-9

1 Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK ; 2 BUPA Cromwell Hospital, London, UK ; 3 St Mary's Hospital, Imperial College NHS trust, London, UK ; 4 St George's Hospital, NHS Foundation Trust, London, UK ; 5 Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK ; 6 King's College Hospital, NHS Foundation Trust, London, UK.

Kenny Caffey syndrome (KCS) is a rare syndrome reported almost exclusively in Middle Eastern populations. It is characterized by severe growth retardation-short stature, dysmorphic features, episodic hypocalcaemia, hypoparathyroidism, seizures, and medullary stenosis of long bones with thickened cortices. We report a 10-year-old boy with KCS with an unusually severe respiratory and gastrointestinal system involvement-features not previously described in the literature. Read More

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June 2015
2 Reads

One-Year Feasibility Study of Replenish MicroPump for Intravitreal Drug Delivery: A Pilot Study.

Transl Vis Sci Technol 2014 May 1;3(4). Epub 2014 Jul 1.

Replenish Inc., Pasadena, CA ; Department of Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, CA.

Purpose: To determine the feasibility of the surgical procedure and to collect some safety data regarding the bioelectronics of a novel micro drug pump for intravitreal drug delivery in a Beagle dog model for up to 1 year.

Methods: Thirteen Beagle dogs were assigned to two groups. The experimental group ( = 11) underwent pars plana implantation of MicroPump; the body of which was sutured episclerally, while its catheter was secured at a pars plana sclerotomy. Read More

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May 2014
6 Reads

Implantable MicroPump for Drug Delivery in Patients with Diabetic Macular Edema.

Transl Vis Sci Technol 2014 Oct 1;3(6). Epub 2014 Dec 1.

Replenish, Inc., Pasadena, CA, USA.

Purpose: To demonstrate the safety and surgical feasibility of the first-in-man ocular implant of a novel Posterior MicroPump Drug Delivery System (PMP) in patients with diabetic macular edema (DME) and to report on the device capabilities for delivering a programmable microdose.

Methods: This was a single center, single arm, open-label, prospective study. Eleven patients with DME and visual acuity equal to or worse than 20/40 were included. Read More

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October 2014
6 Reads

Prenatal Caffey disease (prenatal cortical hyperostosis): severe forms with favorable outcome.

Prenat Diagn 2015 Apr 3;35(4):409-11. Epub 2015 Mar 3.

Service obstétrique, Hôpital Femme Mère Enfants, Hospices Civils de Lyon, Lyon, France.

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April 2015
6 Reads

Infantile cortical hyperostosis - a report of Saudi family.

Sudan J Paediatr 2015 ;15(1):61-4

Department of Pediatrics , Maternity and Children Hospital, ALHasa , Saudi Arabia.

A 2-weeks-old Saudi neonate was apparently well till the 10th day of life when a swelling of the right groin was noted accompanied by irritability and fever, without history of trauma. On examination: the girl was irritable and febrile, the mass was firm, ill defined, fixed and tender. The state of the underlying skin was normal. Read More

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August 2016
1 Read

International issues in abusive head trauma.

Pediatr Radiol 2014 Dec 14;44 Suppl 4:S647-53. Epub 2014 Dec 14.

Division of Child Abuse Pediatrics, Penn State Hershey Department of Pediatrics, 500 University Drive, Hershey, PA, 17033, USA,

In the decades since Dr. John Caffey described a series of children with chronic subdural hematoma and long bone fractures, there has been a substantial increase in the medical recognition of various forms child abuse. In the United States, the term shaken baby syndrome was coined to explain a constellation of injuries assumed to be the result of violent shaking of infants. Read More

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December 2014
3 Reads

Kenny-Caffey syndrome type 1.

Avicenna J Med 2014 Jul;4(3):74-6

Pediatric Endocrinology and Metabolic Diseases Unit, University Children Hospital, Faculty of Medicine, Damascus University, Damascus, Syria.

Kenny-Caffey syndrome type 1 is a rare hereditary skeletal disorder. We present here a documented case of a 7-month-old girl with the characteristic symptoms of growth retardation, dysmorphic features, and hypoparathyroidism. Read More

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July 2014
1 Read

Whole exome sequencing to identify genetic causes of short stature.

Horm Res Paediatr 2014 20;82(1):44-52. Epub 2014 Jun 20.

Department of Genetics, Harvard Medical School, Boston, Mass., USA.

Background/aims: Short stature is a common reason for presentation to pediatric endocrinology clinics. However, for most patients, no cause for the short stature can be identified. As genetics plays a strong role in height, we sought to identify known and novel genetic causes of short stature. Read More

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March 2015
4 Reads

[Caffey disease. A case report].

Acta Ortop Mex 2013 Mar-Apr;27(2):114-8

Infantile cortical hyperostosis or Caffey-Silverman syndrome is a disorder of unknown cause that affects the skeleton and some of the contiguous fascias and muscles. It occurs under all circumstances, in cities, rural communities, in all types of climates, seasons, races, social strata, and its incidence is the same among males and females. We report herein a very rare disease, little known in world literature, in order to disseminate within the orthopedic setting the musculoskeletal alterations we found in Caffey-Silverman disease. Read More

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May 2014
2 Reads

Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His.

Clin Genet 2014 Oct 23;86(4):394-5. Epub 2013 Oct 23.

Department of Genetics Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; University of Ottawa, Ottawa, ON, Canada.

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October 2014
1 Read

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

Eur J Pediatr 2014 Jun 4;173(6):799-804. Epub 2014 Jan 4.

Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamada-oka, Suita, Osaka, 565-0871, Japan.

Unlabelled: Caffey disease, also known as infantile cortical hyperostosis, is a rare bone disease characterized by acute inflammation with swelling of soft tissues and hyperostosis of the outer cortical surface in early infancy. The common heterozygous mutation of the COL1A1 gene, p.Arg1014Cys, has been reported in patients with Caffey disease. Read More

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June 2014
5 Reads

Caffey disease: new perspectives on old questions.

Bone 2014 Mar 31;60:246-51. Epub 2013 Dec 31.

Pediatric Nephrology Unit and Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. Electronic address:

The autosomal dominant form of Caffey disease is a largely self-limiting infantile bone disorder characterized by acute inflammation of soft tissues and localized thickening of the underlying bone cortex. It is caused by a recurrent arginine-to-cysteine substitution (R836C) in the α1(I) chain of type I collagen. However, the functional link between this mutation and the underlying pathogenetic mechanisms still remains elusive. Read More

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March 2014
2 Reads

Reducing liver transplant length of stay: a Lean Six Sigma approach.

Prog Transplant 2013 Dec;23(4):350-64

University of North Carolina Health Care, Chapel Hill.

Context: Organ transplant centers are under increasing scrutiny to maintain outcomes while controlling cost in a challenging population of patients. Throughout health care and transplant specifically, length of stay is used as a benchmark for both quality and resource utilization.

Objective: To decrease our length of stay for liver transplant by using Lean Six Sigma methods. Read More

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December 2013
4 Reads

Unusual cause of hypocalcemic seizures in a neonate.

Indian J Pediatr 2014 Aug 3;81(8):831-2. Epub 2013 Dec 3.

Department of Pediatrics, University College of Medical Sciences and Guru Tegh Bahadur Hospital, Delhi, 110095, India,

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August 2014
1 Read

Determining the effect of environmental accidents on responses to a Gulf of Mexico recreational for-hire fishing industry survey.

J Fish Biol 2013 Oct 5;83(4):1035-45. Epub 2013 Jun 5.

Center for Natural Resource Economics and Policy, Louisiana State University Agricultural Center, Department of Agricultural Economics and Agribusiness, 101 Woodin Hall, Baton Rouge, LA 70803, U.S.A.; Louisiana Sea Grant College Program, 179 Woodin Hall, Baton Rouge, LA, 70803, U.S.A.

A survey designed to collect economic, attitudinal and policy data from the recreational for-hire (RFH) fishing industry in the U.S. Gulf of Mexico was conducted before and during the largest marine oil spill in U. Read More

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October 2013

A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.

J Bone Miner Res 2014 Apr;29(4):992-8

Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Kenny-Caffey syndrome (KCS) is a rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. The autosomal dominant form of KCS (KCS type 2 [KCS2]) is distinguished from the autosomal recessive form of KCS (KCS type 1 [KCS1]), which is caused by mutations of the tubulin-folding cofactor E (TBCE) gene, by the absence of mental retardation. In this study, we recruited four unrelated Japanese patients with typical sporadic KCS2, and performed exome sequencing in three patients and their parents to elucidate the molecular basis of KCS2. Read More

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April 2014
15 Reads

Ellis-van Creveld syndrome: its history.

Pediatr Radiol 2013 Aug 12;43(8):1030-6. Epub 2013 Jun 12.

Division of Pediatric Surgery, Department of Surgery, Weill Cornell Medical College, New York Presbyterian Hospital, New York, NY 10065, USA.

The story of Ellis-van Creveld syndrome is one of serendipity. By chance, Simon van Creveld and Richard Ellis purportedly met on a train and combined their independently encountered patients with short stature, dental anomalies and polydactyly into one landmark publication in 1940. They included a patient used in work published previously by Rustin McIntosh without naming McIntosh as a coauthor. Read More

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August 2013
13 Reads

FAM111A mutations result in hypoparathyroidism and impaired skeletal development.

Am J Hum Genet 2013 Jun 16;92(6):990-5. Epub 2013 May 16.

Department of Pediatrics, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland; Medical Genetics Service, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland.

Kenny-Caffey syndrome (KCS) and the similar but more severe osteocraniostenosis (OCS) are genetic conditions characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. We studied five individuals with KCS and five with OCS and found that all of them had heterozygous mutations in FAM111A. One mutation was identified in four unrelated individuals with KCS, and another one was identified in two unrelated individuals with OCS; all occurred de novo. Read More

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June 2013
12 Reads

Infantile cortical hyperostosis (Caffey disease): a case report and review of the literature--where are we after 70 years?

J Oral Maxillofac Surg 2013 Jul 21;71(7):1195-201. Epub 2013 Mar 21.

Department of Oral and Maxillofacial Surgery, Bharati Vidyapeeth Deemed University Medical College, Pune, Maharashtra, India.

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July 2013
4 Reads

Recurrence of infantile cortical hyperostosis: a case report and review of the literature.

J Pediatr Orthop 2013 Mar;33(2):e10-7

Hôpital Sainte-Justine, Université de Montréal, Montréal, QC, Canada.

Objective: Also named Caffey disease, infantile cortical hyperostosis is a rare disease that usually affects children of a few weeks of age. The clinical picture is that of irritability, soft tissue swelling at various sites (mandible, clavicle, limbs) with local warmth, and pain on palpation. Radiographs demonstrate an important cortical thickening of the affected bony structures. Read More

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Kenny-Caffey syndrome type 1 in an Egyptian girl.

Indian J Endocrinol Metab 2012 Sep;16(5):827-9

Department of Pediatrics, Pediatric Endocrinology Unit, Assiut Children University Hospital, Assiut, Egypt.

Kenny-Caffey syndrome type 1 (KCS1) (OMIM 244460) is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age and normal intelligence. The primary outcome of KCS1 is short stature. We present here an Egyptian girl aged 32 months with typical feature of KCS1. Read More

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September 2012
1 Read

[Neonatal cortical hyperostosis (Caffey disease)].

An Pediatr (Barc) 2013 Sep 22;79(3):189-90. Epub 2012 Oct 22.

Servicio de Pediatría, Hospital Universitario Ramón y Cajal, Universidad de Alcalá de Henares, Madrid, España.

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September 2013
2 Reads

Caffey disease in neonatal period: the importance of the family!

BMJ Case Rep 2012 Oct 9;2012. Epub 2012 Oct 9.

Department of Paediatrics, Hospital Santa Maria, Centro Hospitalar Lisboa Norte, Lisbon, Portugal.

A male newborn was apparently well until his second day of life, when increased irritability and a swelling in his right leg were noted. He was rooming-in with his mother since birth. On examination, a mass on the anterior surface of the right leg was noticed. Read More

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October 2012
2 Reads

Oral manifestations of patients with Kenny-Caffey Syndrome.

Eur J Med Genet 2012 Aug-Sep;55(8-9):441-5. Epub 2012 Mar 30.

Paediatric Dentistry, Garancière Paris Diderot University, France.

Kenny-Caffey syndrome (KCS) is a rare osteosclerotic bone dysplasia characterized by hypocalcemia, short stature, ophthalmological features, and teeth anomalies. The TBCE gene coding for a tubulin-specific chaperone E, is located at chromosome 1q42-q43, and is responsible for the recessive form. After reviewing the literature, we found around 60 cases, however with limited dental data. Read More

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November 2012
9 Reads

Familial occurrence of Caffey-Silverman syndrome.

Ortop Traumatol Rehabil 2012 Jan-Feb;14(1):75-83

Department of Paediatric Orthopedics and Traumatology, Pomeranian Medical University, Szczecin, Poland.

Caffey-Silverman syndrome, or infantile hyperostosis, is a rare condition of unclear etiology and pathogenesis affecting the skeletal system and the surrounding soft tissues. It is characterized by indurated swelling of soft tissues and cortical bone hyperostosis. The changes are usually multiple and affect such parts as the mandible, scapulae, ribs, clavicles, and forearm and shank bones. Read More

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July 2012
2 Reads

A rare variant of Caffey's disease - X-rays, bone scan and FDG PET findings.

Indian J Nucl Med 2011 Apr;26(2):112-4

Bio-imaging Unit, Tata Memorial Hospital, E. Borges Road, Parel, Mumbai, India.

An 18-month-old boy with history of fever of 4 months duration and with swelling of the limbs was referred for a bone scan. There were multiple swellings over his upper and lower limbs, with bowing of the lower limbs. His radiological skeletal survey revealed marked periosteal new bone formation surrounding the diaphysis of long bones. Read More

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April 2011
1 Read