1,949 results match your criteria Gardner Syndrome


Validation of laboratory tests for infectious diseases in wild mammals: review and recommendations.

J Vet Diagn Invest 2020 May 29:1040638720920346. Epub 2020 May 29.

Department of Health Management, Atlantic Veterinary College, University of Prince Edward Island, Charlottetown, Canada (Jia, Gardner).

Evaluation of the diagnostic sensitivity (DSe) and specificity (DSp) of tests for infectious diseases in wild animals is challenging, and some of the limitations may affect compliance with the OIE-recommended test validation pathway. We conducted a methodologic review of test validation studies for OIE-listed diseases in wild mammals published between 2008 and 2017 and focused on study design, statistical analysis, and reporting of results. Most published papers addressed infection in one or more wildlife species. Read More

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http://dx.doi.org/10.1177/1040638720920346DOI Listing

Epigenetics and survivorship in pediatric brain tumor patients.

J Neurooncol 2020 May 25. Epub 2020 May 25.

Department of Neurology and Rehabilitation Medicine, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

Introduction: Brain tumors make up over a quarter of pediatric malignancies. Depending on the age of presentation and treatment, pediatric brain tumor survivors experience varying degrees of treatment induced morbidity and sequelae. Epigenetic mechanisms play a critical role in silencing of tumor suppressor genes and activation of driver genes involved in oncogenesis in different types of brain tumors. Read More

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http://dx.doi.org/10.1007/s11060-020-03535-3DOI Listing

Viral metagenomic analysis of fecal samples reveals an enteric virome signature in irritable bowel syndrome.

BMC Microbiol 2020 May 19;20(1):123. Epub 2020 May 19.

Health Policy Research Center, Institute of Health, Shiraz University of Medical Sciences, Shiraz, Iran.

Background: Changes in the enteric microbiota have been suggested to contribute to gastrointestinal diseases, including irritable bowel syndrome. Most of the published work is on bacterial dysbiosis with meager data on the role of the virome in irritable bowel syndrome and other gastrointestinal diseases. In the current study, we therefore aimed to investigate the viral community composition of the gut and test for potential dysbiosis linked to irritable bowel syndrome. Read More

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http://dx.doi.org/10.1186/s12866-020-01817-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236503PMC

Is there a relationship between femoral neck-shaft angle and ischiofemoral impingement in patients with hip pain?

J Hip Preserv Surg 2020 Jan 5;7(1):43-48. Epub 2020 Feb 5.

Houston Methodist Hospital Orthopaedics & Sports Medicine, 6445 Main Street, Outpatient Center, Suite 2500, Houston, TX 77030, USA.

Ischiofemoral impingement (IFI) is a cause of deep gluteal space syndrome. The prevalence of radiographic findings in patients with hip pain is unknown. To assess if there is a correlation between femoral neck-shaft angle (NSA) and the distance of the ischiofemoral space (IFS) and quadratus femoris space (QFS) and to determine the prevalence of quadratus femoris (QF) edema in patients with hip pain. Read More

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http://dx.doi.org/10.1093/jhps/hnaa006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195935PMC
January 2020

[A Surgical Case of Desmoid Tumor in the Transverse Mesocolon with Pancreatic Invasion].

Gan To Kagaku Ryoho 2020 Jan;47(1):71-75

Dept. of Surgery, NTT Medical Center Tokyo.

A 40-year-old man with no previous history of abdominal surgery or noteworthy family history presented to our hospital because of a palpable abdominal mass. Abdominal CT revealed a 9 cm diameter mass in the mesocolon. The differential diagnosis included desmoid tumor, and right hemicolectomy with partial resection of the pancreas head and duodenum was performed. Read More

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January 2020

The COronavirus Pandemic Epidemiology (COPE) Consortium: A Call to Action.

Cancer Epidemiol Biomarkers Prev 2020 May 5. Epub 2020 May 5.

Twin Research & Genetic Epidemiology Unit St Thomas' Hospital.

The rapid pace of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) (COVID-19) pandemic presents challenges to the real-time collection of population-scale data to inform near-term public health needs as well as future investigations. We established the COronavirus Pandemic Epidemiology (COPE) consortium to address this unprecedented crisis on behalf of the epidemiology research community. As a central component of this initiative, we have developed a COVID-19 Symptom Tracker mobile application as a common data collection tool for epidemiologic cohort studies with active study participants. Read More

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http://dx.doi.org/10.1158/1055-9965.EPI-20-0606DOI Listing
May 2020
4.125 Impact Factor

Rapid implementation of mobile technology for real-time epidemiology of COVID-19.

Science 2020 May 5. Epub 2020 May 5.

The rapid pace of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic (COVID-19) presents challenges to the robust collection of population-scale data to address this global health crisis. We established the COronavirus Pandemic Epidemiology (COPE) consortium to bring together scientists with expertise in big data research and epidemiology to develop a COVID-19 Symptom Tracker mobile application that we launched in the UK on March 24, 2020 and the US on March 29, 2020 garnering more than 2.8 million users as of May 2, 2020. Read More

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http://dx.doi.org/10.1126/science.abc0473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200009PMC
May 2020
31.477 Impact Factor

Epidural hematoma due to Gardner-Wells Tongs placement during pediatric spinal deformity surgery.

Spine Deform 2020 Apr 20. Epub 2020 Apr 20.

Department of Orthopaedic Surgery, Columbia University College of Physicians and Surgeons, 5141 Broadway, New York, NY, 10034, USA.

Background: To our knowledge, this is the first documented report of an operative cranial epidural hematoma secondary to skull fracture due to placement of Gardner-Wells Tongs (GWT) in the setting of a spinal deformity reconstruction.

Purpose: The objective is to illustrate the possibility of cranial pathology secondary to GWT placement and the need to properly correlate intraoperative neuromonitoring findings.

Study Design: Case report. Read More

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http://dx.doi.org/10.1007/s43390-020-00116-2DOI Listing

Bowen disease with matrical differentiation: report of an exceptional histopathologic presentation.

J Cutan Pathol 2020 Apr 16. Epub 2020 Apr 16.

Dermatopathology Bodensee, Friedrichshafen, Germany.

Matrical differentiation is the distinctive feature of pilomatricoma and other purely matrical adnexal neoplasms; additionally, foci of matrical differentiation have been also described in hybrid cysts of Gardner syndrome, as well as in a wide variety of benign and malignant cutaneous tumors, including basal cell carcinoma. We report an exceptional case of Bowen disease exhibiting multiple foci of matrical differentiation, as confirmed by means of immunohistochemical studies. Several types of divergent, non-squamous differentiation have been exceptionally reported in cutaneous squamous cell carcinoma in situ (cSCCIS), including sebaceous, mucinous/glandular, poroid, tricholemmal, and neuroendocrine differentiation; matrical differentiation may be added to this list. Read More

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http://dx.doi.org/10.1111/cup.13714DOI Listing

Complex Case of Aggressive Intra-abdominal Desmoid-type Fibromatosis Status Post Cholecystectomy.

Cureus 2020 Mar 6;12(3):e7193. Epub 2020 Mar 6.

Radiology, University of Mississippi Medical Center, Jackson, USA.

Desmoid-type fibromatosis (DF), also known as desmoid tumor, is an extremely rare, benign, mesenchymal fibrous tumor with no potential for metastasis. It can arise from any part of the body, most commonly extra-abdominally. Intra-abdominal DF can present sporadically, in sites of previous trauma, surgical scars and irradiation, or in association with familial adenomatous polyposis and Gardner syndrome. Read More

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http://dx.doi.org/10.7759/cureus.7193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137654PMC

Primrose syndrome: Characterization of the phenotype in 42 patients.

Clin Genet 2020 Jun 20;97(6):890-901. Epub 2020 Apr 20.

Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.

Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. The syndrome is caused by de novo heterozygous missense variants in ZBTB20. Most of the 29 published patients are adults as characteristics appear more recognizable with age. Read More

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http://dx.doi.org/10.1111/cge.13749DOI Listing

Cutaneous pleomorphic fibromas arising in patients with germline TP53 mutations.

J Cutan Pathol 2020 Mar 18. Epub 2020 Mar 18.

Department of Pathology, Stanford University School of Medicine, Stanford, California.

Pleomorphic fibromas are rare benign cutaneous neoplasms associated with deletion/loss of chromosomes 13q and 17p, where RB1 and TP53 are located, respectively. Herein, we report five cases of pleomorphic fibroma arising in patients with germline TP53 mutations, suggesting a potential link with Li-Fraumeni syndrome. All three patients were female and young (mean age 27) with a strong personal and/or family oncologic history and confirmed pathogenic germline TP53 mutations. Read More

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http://dx.doi.org/10.1111/cup.13686DOI Listing

Pineoblastoma in children less than six years of age: The Head Start I, II, and III experience.

Pediatr Blood Cancer 2020 Jun 18;67(6):e28252. Epub 2020 Mar 18.

The Division of Hematology, Oncology and Blood and Marrow Transplant, Nationwide Children's Hospital and The Ohio State University, Columbus, Ohio.

Background: We report the outcomes of patients with pineoblastoma and trilateral retinoblastoma syndrome enrolled on the Head Start (HS) I-III trials.

Methods: Twenty-three children were enrolled prospectively between 1991 and 2009. Treatment included maximal surgical resection followed by five cycles of intensive chemotherapy and consolidation with marrow-ablative chemotherapy and autologous hematopoietic cell rescue (HDCx/AuHCR). Read More

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http://dx.doi.org/10.1002/pbc.28252DOI Listing
June 2020
2.562 Impact Factor

Noonan Syndrome: Common Molecular Alterations and the Consequences.

J Assoc Genet Technol 2020 ;46(1):21-23

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT.

Objectives: Noonan syndrome (NS) is a relatively common autosomal dominant disorder with characteristic features and molecular alterations. The most common recurrent alteration is in the PTPN11 gene, a proto-oncogene that encodes a cytoplasmic receptor tyrosine phosphatase and helps regulate kinase activity and control cell survival and replication. Mutations in this gene can increase the risk for the development of multiple different malignancies, particularly hematopoietic. Read More

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January 2020

Bilateral presentation of different supernumerary teeth in nonsyndromic patients: case reports.

Gen Dent 2020 Mar-Apr;68(2):39-42

Supernumerary teeth--teeth in excess of the normal dental complement--are usually asymptomatic, and their presence is detected incidentally on radiographs. Mesiodentes are the most common type of supernumerary teeth, followed by maxillary distomolars, maxillary lateral incisors, mandibular fourth molars, and maxillary premolars. Bilateral occurrence of supernumerary teeth is rare. Read More

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February 2020

Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases.

Sci Rep 2020 Feb 25;10(1):3368. Epub 2020 Feb 25.

Gerhard-Domagk-Institute of Pathology, Münster University Hospital, Münster, Germany.

Desmoid-type fibromatosis (DTF, aggressive fibromatosis) is a non-metastasizing mesenchymal neoplasm of deep soft tissue with a tendency towards local recurrence. Genetic alterations affecting canonical Wnt/β-catenin signaling are reported in the majority of DTF. While most sporadic DTF harbor somatic mutations in CTNNB1, germline mutations in adenomatous polyposis coli (APC) are known to occur in hereditary DTF types (FAP, Gardner-Syndrome). Read More

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http://dx.doi.org/10.1038/s41598-020-60237-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042250PMC
February 2020

An interactive web-based dashboard to track COVID-19 in real time.

Lancet Infect Dis 2020 05 19;20(5):533-534. Epub 2020 Feb 19.

Department of Civil and Systems Engineering, Johns Hopkins University, Baltimore, MD 21218, USA. Electronic address:

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http://dx.doi.org/10.1016/S1473-3099(20)30120-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7159018PMC

Outpatient intensive induction chemotherapy for acute myeloid leukemia and high-risk myelodysplastic syndrome.

Blood Adv 2020 Feb;4(4):611-616

Division of Hematology, Department of Medicine, University of Washington School of Medicine, Seattle, WA.

To improve patient quality of life and reduce health care costs, many conditions formerly thought to require inpatient care are now treated in the outpatient setting. Outpatient induction chemotherapy for acute myeloid leukemia (AML) may confer similar benefits. This possibility prompted a pilot study to explore the safety and feasibility of intensive outpatient initial or salvage induction chemotherapy administration for adults with AML and high-risk myelodysplastic syndrome (MDS). Read More

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http://dx.doi.org/10.1182/bloodadvances.2019000707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042997PMC
February 2020

Gardner-Diamond Syndrome: A Psychodermatological Condition in the Setting of Immunodeficiency.

J Clin Aesthet Dermatol 2019 Dec 1;12(12):44-46. Epub 2019 Dec 1.

Ms. Dick is with the Creighton School of Medicine in Omaha, Nebraska.

Gardner-Diamond syndrome (GDS) is a psychological and dermatologic syndrome involving painful, ecchymotic, purpuric lesions that typically appear after a period of stress or minor trauma. This syndrome most commonly occurs in young women, though it has also been less commonly reported in men and adolescents. It is an uncommon condition and appropriate diagnosis is important to properly manage symptoms and minimize risks to patients. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7002047PMC
December 2019

[Turcot syndrome and Gardner's syndrome in a female patient with familial colon adenomatosis. A case report and literature review].

Zh Vopr Neirokhir Im N N Burdenko 2019 ;83(6):72-77

Ryzhikh State Scientific Center of Coloproctology, Moscow, Russia.

Turcot syndrome is a rare hereditary syndrome characterized by a combination of brain tumors and colorectal cancer. According to the literature, about 150 such cases have been reported. This article presents a rare clinical case and a literature review. Read More

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http://dx.doi.org/10.17116/neiro20198306172DOI Listing

ACG Clinical Guideline: Chronic Pancreatitis.

Am J Gastroenterol 2020 03;115(3):322-339

Division of Gastroenterology, Hepatology and Nutrition, Departments of Medicine, Cell Biology and Molecular Physiology, and Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

Chronic pancreatitis (CP) is historically defined as an irreversible inflammatory condition of the pancreas leading to varying degrees of exocrine and endocrine dysfunction. Recently however, the paradigm for the diagnosis has changed in that it breaks with the traditional clinicopathologic-based definition of disease, focusing instead on diagnosing the underlying pathologic process early in the disease course and managing the syndrome more holistically to change the natural course of disease and minimize adverse disease effects. Currently, the most accepted mechanistically derived definition of CP is a pathologic fibroinflammatory syndrome of the pancreas in individuals with genetic, environmental, and/or other risk factors who develop persistent pathologic responses to parenchymal injury or stress. Read More

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http://dx.doi.org/10.14309/ajg.0000000000000535DOI Listing

Sleep for Stroke Management and Recovery Trial (Sleep SMART): Rationale and methods.

Int J Stroke 2020 Feb 4:1747493020903979. Epub 2020 Feb 4.

Department of Neurology and Sleep Disorders Center, University of Michigan, Ann Arbor, MI, USA.

Rationale: Obstructive sleep apnea is common among patients with acute ischemic stroke and is associated with reduced functional recovery and an increased risk for recurrent vascular events.

Aims And/or Hypothesis: The Sleep for Stroke Management and Recovery Trial (Sleep SMART) aims to determine whether automatically adjusting continuous positive airway pressure (aCPAP) treatment for obstructive sleep apnea improves clinical outcomes after acute ischemic stroke or high-risk transient ischemic attack.

Sample Size Estimate: A total of 3062 randomized subjects for the prevention of recurrent serious vascular events, and among these, 1362 stroke survivors for the recovery outcome. Read More

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http://dx.doi.org/10.1177/1747493020903979DOI Listing
February 2020
3.833 Impact Factor

The management of desmoid tumours: A joint global consensus-based guideline approach for adult and paediatric patients.

Authors:

Eur J Cancer 2020 Mar 28;127:96-107. Epub 2020 Jan 28.

Desmoid tumor (DT; other synonymously used terms: Desmoid-type fibromatosis, aggressive fibromatosis) is a rare and locally aggressive monoclonal, fibroblastic proliferation characterised by a variable and often unpredictable clinical course. Previously surgery was the standard primary treatment modality; however, in recent years a paradigm shift towards a more conservative management has been introduced and an effort to harmonise the strategy amongst clinicians has been made. We present herein an evidence-based, joint global consensus guideline approach to the management of this disease focussing on: molecular genetics, indications for an active treatment, and available systemic therapeutic options. Read More

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http://dx.doi.org/10.1016/j.ejca.2019.11.013DOI Listing

Recurrent painful ecchymosis in an adolescent female.

JAAD Case Rep 2020 Jan 24;6(1):30-32. Epub 2019 Dec 24.

Apex Dermatology and Skin Surgery Center, Mayfield Heights, Ohio.

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http://dx.doi.org/10.1016/j.jdcr.2019.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938817PMC
January 2020

[Familial adenomatous polyposis, desmoid tumors and Gardner syndrome].

Bull Cancer 2020 Mar 24;107(3):352-358. Epub 2019 Dec 24.

Hôpital Saint-Antoine, service d'oncologie médicale, 184, rue Faubourg Saint-Antoine, 75012 Paris, France. Electronic address:

About 15 % of patients with familial adenomatous polyposis "PAF" develop one or more desmoid tumors in their lifetime. These are benign mesenchymal tumors with local aggressivity but with no potential for metastases. Most of the desmoids tumors result from a sporadic genetic anomaly in the β catenin gene. Read More

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http://dx.doi.org/10.1016/j.bulcan.2019.10.011DOI Listing

Seeing though the clutter: A case report of Posterior Cortical Atrophy and patient-centered care.

Appl Neuropsychol Adult 2019 Dec 19:1-7. Epub 2019 Dec 19.

Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Posterior cortical atrophy (PCA) is a neurodegenerative disease, with complex and heterogeneous neurological/neuropsychological sequelae but with similar pathophysiology to Alzheimer's disease. This case report demonstrated the complexity of this disorder and the challenges from the provider and patient perspective. Case report focused on a 57-year-old, Caucasian, right-handed woman. Read More

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http://dx.doi.org/10.1080/23279095.2019.1704286DOI Listing
December 2019

EEG Correlates of Delirium in Children and Young Adults With CD19-Directed CAR T Cell Treatment-Related Neurotoxicity.

J Clin Neurophysiol 2019 Dec 13. Epub 2019 Dec 13.

Division of Pediatric Neurology, Department of Neurology, University of Washington, Seattle, Washington, U.S.A.

Introduction: EEG patterns in chimeric antigen receptor T cell treatment-associated neurotoxicity (immune effector cell-associated neurotoxicity syndrome) have not yet been systematically studied. We tested the hypothesis that EEG background abnormalities in immune effector cell-associated neurotoxicity syndrome correlate with clinical signs of neurotoxicity. In addition, we describe ictal and interictal EEG patterns to better understand the natural history of immune effector cell-associated neurotoxicity syndrome-associated seizures. Read More

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http://dx.doi.org/10.1097/WNP.0000000000000669DOI Listing
December 2019

Superior vena cava syndrome due to mediastinal Gardner fibroma presenting as syncope.

BMJ Case Rep 2019 Dec 4;12(12). Epub 2019 Dec 4.

Radio-diagnosis and Imaging, Baby Memorial Hospital, Calicut, Kerala, India.

Superior vena cava (SVC) syndrome refers to the clinical manifestation due to an obstruction in the SVC; resulting in decreased venous return from the head, neck and upper extremities. The obstruction can occur either due to tumour invasion of the vessel wall with associated thrombus or due to vessel wall compression by the tumour mass. The patient being reported is a young male who presented with recurrent episodes of syncope and was found to have mediastinal Gardner fibroma causing SVC syndrome. Read More

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http://dx.doi.org/10.1136/bcr-2019-232433DOI Listing
December 2019

Corticosteroids for Posttransplant Immune Reconstitution Syndrome in Meningoencephalitis: Case Report and Literature Review.

Open Forum Infect Dis 2019 Nov 23;6(11):ofz460. Epub 2019 Oct 23.

Department of Infectious Diseases, Denver Health Medical Center, Denver, Colorado, USA.

represents an emerging fungal pathogen of immunocompromised and immunocompetent hosts in the United States. To our knowledge, this is the first case of posttransplant immune reconstitution syndrome due to meningoencephalitis successfully treated with corticosteroids. We also report successful maintenance phase treatment with isavuconazole, a novel triazole, following fluconazole-induced prolonged QT syndrome. Read More

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http://dx.doi.org/10.1093/ofid/ofz460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6847472PMC
November 2019

A Case of Early FAP Diagnosis with Extraintestinal Manifestations on the Face.

Acta Med Acad 2019 Aug;48(2):217-224

Anatomy Department, School of Medicine, Democritus University of Thrace, Alexandroupolis, Greece.

Objective: Gardner's syndrome is a variant of familial adenomatous polyposis, characterized by gastrointestinal polyps, multiple osteomas, and skin and soft tissue lesions. Diagnosis by means of an understanding of its various symptoms is of great importance.

Case Reposrt: This report presents the case of a 32-year-old man with obvious asymmetry and disfigurement on his face, due to multiple osteomas and soft tissue lesions. Read More

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http://dx.doi.org/10.5644/ama2006-124.260DOI Listing

Preemptive mitigation of CD19 CAR T-cell cytokine release syndrome without attenuation of antileukemic efficacy.

Blood 2019 12;134(24):2149-2158

Seattle Children's Research Institute, Seattle, WA.

Immunotherapy with the adoptive transfer of T cells redirected with CD19-specific chimeric antigen receptors (CARs) for B-lineage acute lymphoblastic leukemia (ALL) can salvage >80% of patients having relapsed/refractory disease. The therapeutic index of this emerging modality is attenuated by the occurrence of immunologic toxicity syndromes that occur upon CAR T-cell engraftment. Here, we report on the low incidence of severe cytokine release syndrome (CRS) in a subject treated with a CAR T-cell product composed of a defined ratio CD4:CD8 T-cell composition with a 4-1BB:zeta CAR targeting CD19 who also recieved early intervention treatment. Read More

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http://dx.doi.org/10.1182/blood.2019001463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6908832PMC
December 2019
10.452 Impact Factor

Tau PET and multimodal brain imaging in patients at risk for chronic traumatic encephalopathy.

Neuroimage Clin 2019 17;24:102025. Epub 2019 Oct 17.

Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, CA, 94158, United States; Departments of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, CA 94158, United States; Life Sciences Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, United States; Helen Wills Neuroscience Institute, University of California Berkeley, Berkeley, CA 94720, United States.

Objective: To characterize individual and group-level neuroimaging findings in patients at risk for Chronic Traumatic Encephalopathy (CTE).

Methods: Eleven male patients meeting criteria for Traumatic Encephalopathy Syndrome (TES, median age: 64) underwent neurologic evaluation, 3-Tesla MRI, and PET with [F]-Flortaucipir (FTP, tau-PET) and [C]-Pittsburgh compound B (PIB, amyloid-PET). Six patients underwent [F]-Fluorodeoxyglucose-PET (FDG, glucose metabolism). Read More

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http://dx.doi.org/10.1016/j.nicl.2019.102025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831941PMC
October 2019
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EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.

Eur J Med Genet 2020 Apr 23;63(4):103799. Epub 2019 Oct 23.

Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, 5000, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia; Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia. Electronic address:

Mutations in ATP6V1B2, which encodes the B2 subunit of the vacuolar H + ATPase have previously been associated with Zimmermann-Laband syndrome 2 (ZLS2) and deafness-onychodystrophy (DDOD) syndrome. Recently epilepsy has also been described as a potentially associated phenotype. Here we further uncover the role of ATP61VB2 in epilepsy and report autosomal dominant inheritance of a novel missense variant in ATP6V1B2 in a large Polish family with relatively mild gingival and nail problems, no phalangeal hypoplasia and with generalized epilepsy. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.103799DOI Listing

Burnout syndrome in athletes and their association with body image dissatisfaction at a private university.

J Sports Med Phys Fitness 2020 Apr 16;60(4):650-655. Epub 2019 Oct 16.

School of Medicine, Peruvian University of Applied Sciences, Lima, Perú -

Background: Burnout syndrome, from the sporting point of view, is the integration of both physical and emotional signs, caused by the high demands in competition. According to several studies, the prevalence of burnout syndrome is influenced by several factors that would lead to athlete's body image dissatisfaction.

Methods: The study design is cross-sectional analysis. Read More

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http://dx.doi.org/10.23736/S0022-4707.19.07965-9DOI Listing

To pool or not to pool? Guidelines for pooling samples for use in surveillance testing of infectious diseases in aquatic animals.

J Fish Dis 2019 Nov;42(11):1471-1491

Department of Agriculture, Canberra, ACT, Australia.

Samples from multiple animals may be pooled and tested to reduce costs of surveillance for infectious agents in aquatic animal populations. The primary advantage of pooling is increased population-level coverage when prevalence is low (<10%) and the number of tests is fixed, because of increased likelihood of including target analyte from at least one infected animal in a tested pool. Important questions and a priori design considerations need to be addressed. Read More

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http://dx.doi.org/10.1111/jfd.13083DOI Listing
November 2019

Syndromes associated with multiple pilomatricomas: When should clinicians be concerned?

Pediatr Dermatol 2020 Jan 16;37(1):9-17. Epub 2019 Oct 16.

Board Certified Dermatologist, Aurora Health Care, Milwaukee, Wisconsin.

Background: Multiple pilomatricomas have been linked to various syndromes. However, these associations are poorly defined, leaving practitioners conflicted on management of these patients.

Objective: To perform a comprehensive review to clarify the strength of these relationships and identify which patients may benefit from additional screening and/or genetic screening. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/pde.13947
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http://dx.doi.org/10.1111/pde.13947DOI Listing
January 2020
1 Read

Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots: A Case Report.

J Pediatr Hematol Oncol 2019 Oct 9. Epub 2019 Oct 9.

Departments of Pediatric Gastroenterology, Hepatology, and Nutrition.

Introduction: Adenomatous polyps in the gastrointestinal system rarely occur in childhood and are accompanied by syndromes such as Familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MUTYH-associated polyposis, Gardner and Turcot syndrome, and also mismatch repair (MMR) gene defects. In this article, we want to present a rare patient who had adenomatous polyposis and in situ carcinoma and was detected biallelic MMR gene defect.

Case: A 16-year-old female patient admitted with painless rectal bleeding, chronic abdominal pain, and anorexia for 1 year. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001614DOI Listing
October 2019
1 Read

Risk of Misdiagnosing Chronic Traumatic Encephalopathy in Men With Depression.

J Neuropsychiatry Clin Neurosci 2020 7;32(2):139-146. Epub 2019 Oct 7.

The Department of Physical Medicine and Rehabilitation, Harvard Medical School, Boston (Iverson); Spaulding Rehabilitation Hospital and Spaulding Research Institute, Boston (Iverson); the Sports Concussion Program, MassGeneral Hospital for Children, Boston (Iverson); Home Base, A Red Sox Foundation and Massachusetts General Hospital Program, Boston (Iverson); the Sports Concussion Program, Hunter New England Local Health District, New South Wales, Australia (Gardner); and the Centre for Stroke and Brain Injury, School of Medicine and Public Health, University of Newcastle, Callaghan, New South Wales, Australia (Gardner).

Objective: In recent years, it has been proposed that depression represents one clinical subtype of chronic traumatic encephalopathy (CTE). This is the first study to examine the specificity of the research criteria for the clinical diagnosis of CTE in men with depression from the general population.

Methods: Data from the National Comorbidity Survey Replication, an in-person survey that examined the prevalence and correlates of mental disorders in the United States, were used for this study. Read More

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http://dx.doi.org/10.1176/appi.neuropsych.19010021DOI Listing
October 2019

Force of infection of Middle East respiratory syndrome in dromedary camels in Kenya.

Epidemiol Infect 2019 09 24;147:e275. Epub 2019 Sep 24.

University of Guelph, Guelph, Ontario, Canada.

Middle East respiratory syndrome coronavirus (MERS-CoV) is a zoonotic disease transmitted from dromedary camels to people, which can result in outbreaks with human-to-human transmission. Because it is a subclinical infection in camels, epidemiological measures other than prevalence are challenging to assess. This study estimated the force of infection (FOI) of MERS-CoV in camel populations from age-stratified serological data. Read More

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http://dx.doi.org/10.1017/S0950268819001663DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6805735PMC
September 2019
1 Read

[Gardner's syndrome, a rare disease].

Magy Seb 2019 Sep;72(3):107-111

Sebészeti Osztály, Fejér Megyei Szent György Egyetemi Oktató Kórház 8000 Székesfehérvár, Seregélyesi út 3.

Gardner's syndrome is a clinical subgroup of Familial Adenomatosus Polyposis, arare, autosomal disease. It is characterized by gastrointestinal polyps and extra-intestinal manifestations including multiple osteomas, skin and tissue tumours. The authors describe a case of a male patient, and discuss the diagnosis, treatment and follow-up of patients with Gardner's syndrome. Read More

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http://dx.doi.org/10.1556/1046.72.2019.3.4DOI Listing
September 2019
2 Reads

Imaging of Thoracic Wall Abnormalities.

Korean J Radiol 2019 Oct;20(10):1441-1453

Department of Radiology, Jewish General Hospital, Montreal, Canada.

Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. Read More

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http://dx.doi.org/10.3348/kjr.2019.0181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6757005PMC
October 2019
3 Reads
1.807 Impact Factor

Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas.

Neuro Oncol 2020 01;22(1):128-138

Curie Institute, SIREDO Cancer Center (Care, Innovation and Research in Pediatric, Adolescents, and Young Adults Oncology), Paris, France.

Background: Medulloblastomas may occur in a predisposition context, including familial adenomatosis polyposis. Medulloblastomas related to a germline pathogenic variant of adenomatous polyposis coli (APC) remain rare and poorly described. Their similarities with sporadic WNT medulloblastomas still require description. Read More

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http://dx.doi.org/10.1093/neuonc/noz154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6954432PMC
January 2020
5 Reads

Diagnosing acute compartment syndrome-where have we got to?

Int Orthop 2019 11 29;43(11):2429-2435. Epub 2019 Aug 29.

Department of Trauma & Orthopaedics, Aberdeen Royal Infirmary, Foresterhill, Aberdeen, AB25 2ZN, UK.

Purpose: Acute compartment syndrome is a condition whereby tissue ischaemia occurs due to increased pressure in a closed myofascial compartment. It is a surgical emergency, with rapid recognition and treatment-the keys to good outcomes.

Methods: The available literature on diagnostic aids was reviewed by one of the senior authors 15 years ago. Read More

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http://link.springer.com/10.1007/s00264-019-04386-y
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http://dx.doi.org/10.1007/s00264-019-04386-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848051PMC
November 2019
2 Reads

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 Jan 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

Background: The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo heterozygous copy number loss or truncating mutations cause haploinsufficiency culminating in a recognizable syndrome with intellectual disability and signature brain and congenital abnormalities. In contrast, the involvement of USP9X in male neurodevelopmental disorders remains tentative. Read More

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020
13 Reads
10.255 Impact Factor

High-grade B-Cell lymphoma with and rearrangements associated with Richter transformation of chronic lymphocytic leukemia.

Autops Case Rep 2019 Jul-Sep;9(3):e2019090. Epub 2019 Jul 19.

University of Vermont Medical Center, Department of Pathology and Laboratory Medicine. Burlington, VT, USA.

Richter transformation (RT), or Richter syndrome, is defined as the transformation of chronic lymphocytic leukemia (CLL) to an aggressive B-cell lymphoma. The vast majority, up to 99%, transform into diffuse large B-cell lymphoma (DLBCL), with a small subset (<1%) becoming classical Hodgkin lymphoma. Approximately half of RT cases progress through a pathway involving dysregulation of C-MYC. Read More

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http://dx.doi.org/10.4322/acr.2019.090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6655851PMC
July 2019
4 Reads

Reversible Central Hypoventilation Syndrome in Basilar Invagination.

World Neurosurg 2019 Nov 7;131:120-125. Epub 2019 Aug 7.

Department of Spine Services, Indian Spinal Injuries Centre, New Delhi, India.

Background: A noninvasive approach for basilar invagination (BI) and moreover, cervical traction to reduce odontoid invagination, has not been thoroughly described in the literature. We report a case of BI with Arnold-Chiari malformation in which preoperative reduction using Gardner well cervical traction was attempted and the patient developed central hypoventilation syndrome.

Case Description: A 15-year-old boy presented with a 6-month history of progressive cervical myelopathy signs and symptoms, modified Japanese orthopedic association score 12 of 18. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.07.236DOI Listing
November 2019
6 Reads
2.417 Impact Factor

The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE).

Am J Ophthalmol Case Rep 2019 Sep 24;15:100524. Epub 2019 Jul 24.

University of Kansas Medical Center - Wichita, 1010 North Kansas, Wichita, KS, USA.

Purpose: Clarify the differences between Familial Adenomatous Polyposis (FAP)-associated Congenital Hypertrophy of the Retinal Epithelium (CHRPE) and benign variants with regards to lesion characteristics and associated risk.

Observations: An eighteen-year-old man with no past medical history was found to have multiple lesions in both eyes that were consistent with FAP-associated CHRPE. Although family history was negative for colon cancer, a colonoscopy was performed, and hundreds of polyps were found extending from the rectum to the distal colon with pathological findings of tubular adenoma. Read More

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http://dx.doi.org/10.1016/j.ajoc.2019.100524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661422PMC
September 2019
4 Reads

Management and prognosis of acute traumatic cervical central cord syndrome: systematic review and Spinal Cord Society-Spine Trauma Study Group position statement.

Eur Spine J 2019 Oct 31;28(10):2390-2407. Epub 2019 Jul 31.

Department of Orthopedics, University of Pretoria, Pretoria, South Africa.

Purpose: Spinal Cord Society (SCS) and Spine Trauma Study Group (STSG) established a panel tasked with reviewing management and prognosis of acute traumatic cervical central cord syndrome (ATCCS) and recommend a consensus statement for its management.

Methods: A systematic review was performed according to the PRISMA 2009 guidelines. Delphi method was used to identify key research questions and achieve consensus. Read More

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http://dx.doi.org/10.1007/s00586-019-06085-zDOI Listing
October 2019
3 Reads

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C.

Cerebellum Ataxias 2019 15;6. Epub 2019 Jul 15.

1Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.

Background: Friedreich ataxia (FRDA) is the most common familial ataxia syndrome in Central and Southern Europe but rare in Scandinavia. Biallelic mutations in SH3 domain and tetratricopeptide repeats 2 ( cause Charcot-Marie-Tooth disease type 4C (CMT4C), one of the most common autosomal recessive polyneuropathies associated with early onset, slow disease progression and scoliosis. Beyond nystagmus reported in some patients, neither ataxia nor cerebellar atrophy has been documented as part of the CMT4C phenotype. Read More

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http://dx.doi.org/10.1186/s40673-019-0103-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6631598PMC
July 2019
8 Reads

Pancreatic steatosis: an update.

Curr Opin Gastroenterol 2019 09;35(5):440-447

Section of Gastroenterology and Hepatology, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA.

Purpose Of Review: Pancreatic steatosis is a clinical entity with emerging significance and impacts patient health in a multitude of ways. It has a high prevalence in the global population with predilections for different demographics by age, sex and ethnicity. Understanding the pathophysiology, clinical features and complications of this entity may be important to understanding the consequences of the ongoing obesity global epidemic. Read More

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http://dx.doi.org/10.1097/MOG.0000000000000566DOI Listing
September 2019
3 Reads