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Arch Pathol Lab Med 2019 Feb 20. Epub 2019 Feb 20.

From the Department of Dermatology, Saint Louis University, St Louis, Missouri (Dr Abate);the Departments of Dermatology (Dr Battle),and Pathology (Drs Gardner and Shalin),University of Arkansas for Medical Sciences, Little Rock; and the Department of Dermatology, University of Mississippi Medical Center, Jackson (Dr Emerson).

Context.—: Fatal dermatologic diseases and ones with high morbidity can occur in the inpatient setting. In such cases, prompt and accurate assessment of a bedside skin biopsy is required. Read More

PLoS One 2019 8;14(2):e0212045. Epub 2019 Feb 8.

Physical & Life Sciences Directorate, Lawrence Livermore National Laboratory, Livermore, California, United States of America.

Microarrays have proven to be useful in rapid detection of many viruses and bacteria. Pathogen detection microarrays have been used to diagnose viral and bacterial infections in clinical samples and to evaluate the safety of biological drug materials. In this study, the Axiom Microbiome Array was evaluated to determine its sensitivity, specificity and utility in microbiome analysis of veterinary clinical samples. Read More

BMC Infect Dis 2019 Feb 4;19(1):113. Epub 2019 Feb 4.

Ontario Veterinary College, University of Guelph, 50 Stone Road E, Guelph, ON, N1G 2W1, Canada.

Background: Middle East respiratory syndrome coronavirus (MERS-CoV) is endemic in dromedary camels in the Arabian Peninsula, and zoonotic transmission to people is a sporadic event. In the absence of epidemiological data on the reservoir species, patterns of zoonotic transmission have largely been approximated from primary human cases. This study aimed to identify meteorological factors that may increase the risk of primary MERS infections in humans. Read More

Cold Spring Harb Mol Case Stud 2019 Jan 29. Epub 2019 Jan 29.

Mayo Clinic;

Gardner Syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), characterized primarily by extracolonic lesions including osteomas, dental abnormalities, epidermal cysts, and soft tissue tumors. We describe a two-year old boy presenting with a 2 cm soft tissue mass of the forehead. Pathologic evaluation revealed a nuchal-type/Gardner-associated fibroma. Read More

Cardiovasc Toxicol 2019 Jan 25. Epub 2019 Jan 25.

Department of Physiology, LSU Health Sciences Center, 1901 Perdido Street, New Orleans, LA, 70112, USA.

Fetal alcohol syndrome (FAS) is the most severe condition of fetal alcohol spectrum disorders (FASD) and is associated with congenital heart defects. However, more subtle defects such as ventricular wall thinning and cardiac compliance may be overlooked in FASD. Our studies focus on the role of cardiac fibroblasts in the neonatal heart, and how they are affected by prenatal alcohol exposure (PAE). Read More

J Neurosurg 2019 Jan 11:1-6. Epub 2019 Jan 11.

OBJECTIVELarge interhemispheric subdural hematomas (iSDHs) causing falx syndrome are rare; therefore, a paucity of data exists regarding the outcomes of contemporary management of iSDH. There is a general consensus among neurosurgeons that large iSDHs with neurological deficits represent a particular treatment challenge with generally poor outcomes. Thus, radiological and clinical outcomes of surgical and nonsurgical management for iSDH bear further study, which is the aim of this report. Read More

Parkinsonism Relat Disord 2019 Jan 8. Epub 2019 Jan 8.

Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH, USA.

Introduction: We sought to assess the effect of subthalamic deep brain stimulation (STN DBS) on Parkinson's disease (PD)-associated postural abnormalities.

Methods: A computerized analysis of posture was used to quantify the thoracolumbar, thoracic, and cervical-occipital ventral angles, as well as the thoracolumbar and cervical-occipital lateral angles from the video-repository of three specialized movement disorder centers (n = 158 patients). Data was extracted from frames from video-recordings in the pre-surgical medication-ON (dopaminergic therapy) and post-surgical stimulation-ON/medication-ON states (STN DBS plus dopaminergic therapy). Read More

N Engl J Med 2019 01;380(2):163-170

From the Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases (D.H.M., D.V., E.C., Q.L., P.M.M.), the Laboratories of Cellular Oncology (D.V.P., C.B.B.) and Pathology (S.P.), National Cancer Institute, the Department of Laboratory Medicine, Clinical Center (K.R.C.), the National Institute of Dental and Craniofacial Research (P.J.G.), and the National Institute on Deafness and Other Communication Disorders (D.A.B.), National Institutes of Health, and Kozloff and Trout MDs (H.H.T.), Bethesda, MD; the Infectious Diseases Unit and Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Pediatric University Hospital (J.F.N.), and Centro de Imunodeficiências Primárias, Academic Medical Center of Lisbon (S.L.S.), Lisbon, Portugal; and the University of Chicago Medical Center, Chicago (E.A.B., E.M.L.).

WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis), a primary immunodeficiency disorder involving panleukopenia, is caused by autosomal dominant gain-of-function mutations in CXC chemokine receptor 4 (CXCR4). Myelokathexis is neutropenia caused by neutrophil retention in bone marrow. Patients with WHIM syndrome are often treated with granulocyte colony-stimulating factor (G-CSF), which can increase neutrophil counts but does not affect cytopenias other than neutropenia. Read More

Front Nutr 2018 12;5:127. Epub 2018 Dec 12.

CanCog Technologies, Toronto, ON, Canada.

Cognitive dysfunction syndrome (CDS) is a common condition in senior dogs, which may be analogous to dementia such as Alzheimer's disease (AD) in people. In humans, AD has been associated with many risk factors such as reduced cerebral glucose metabolism, docosahexaenoic acid (DHA) deficiency, chronic oxidative stress, and chronic inflammation. By targeting some of these risk factors, we have developed two nutritional solutions (medium chain triglyceride, MCT and Brain Protection Blend, BPB) to enhance cognitive function and slow aging-induced cognitive decline. Read More

Biol Blood Marrow Transplant 2018 Dec 25. Epub 2018 Dec 25.

The University of Texas M.D. Anderson Cancer Center, Houston, Texas. Electronic address:

Chimeric antigen receptor (CAR) T cell therapy is rapidly emerging as one of the most promising therapies for hematologic malignancies. Two CAR T products were recently approved in the United States and Europe for the treatment of patients up to age 25 years with relapsed or refractory B cell acute lymphoblastic leukemia years "?>and/or adults with large B cell lymphoma. Many more CAR T products, as well as other immunotherapies, including various immune cell- and bi-specific antibody-based approaches that function by activation of immune effector cells, are in clinical development for both hematologic and solid tumor malignancies. Read More

J Clin Immunol 2019 Jan 20;39(1):75-80. Epub 2018 Dec 20.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, UK.

Purpose: Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. Pathogenic variants in IFIH1 have previously been associated with the classic Singleton-Merten syndrome, while variants in DDX58 has been described in association with a milder phenotype, which is suggested to have a better prognosis. We studied a family with severe, "classic" Singleton-Merten syndrome. Read More

Stomatologija 2018 ;20(2):59-64

Department of restorative and periodontology, University of Greifswald, Friedrich Ebert Str. 69, 34119 Kassel, Germany.

Gardner syndrome is an autosomal dominant disease. It is characterized by a combination of familial adenomatous polyposis (FAP) of the intestine with extraintestinal changes as multiple osteomas and fibromas. Odontogenic Myxoma is a benign, aggressive intraosseous neoplasm. Read More

J Assoc Genet Technol 2018 ;44(4):137-140

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

Objectives: While the complete form of trisomy 22 is seemingly incompatible with life, the mosaic form is a rare syndrome associated with developmental delays, intellectual disability, and dysmorphic features. Due in part to the difficulty of analyzing chromosomal mosaicism, many instances either go undiagnosed or have their diagnosis delayed. We report a case of mosaic trisomy 22 in a diamnionic-dichorionic twin with marked growth discordance and intra-uterine growth restriction, diagnosed in a 2-year-old with developmental delays, sensorineural hearing loss, cardiac and gastrointestinal abnormalities, and osteopenia of prematurity. Read More

J Assoc Genet Technol 2018 ;44(4):135-136

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

Objectives: The GATA family of DNA binding proteins consists of six different transcription factors (GATA1-6), each with a diverse biologic function. The transcription factors GATA1-3 function primarily to orchestrate hematopoiesis; however, they have roles in non-hematopoietic cells as well. Much of our current knowledge of the GATA transcription factors has come through observation of disease states with known GATA mutations. Read More

Ann Rheum Dis 2019 Feb 24;78(2):249-260. Epub 2018 Nov 24.

Centre for Translational Inflammation Research, Institute of Inflammation and Ageing, College of Medical & Dental Sciences, University of Birmingham, Research Laboratories, Queen Elizabeth Hospital, Birmingham, UK

Background: The phosphatidylinositol 3-kinase delta isoform (PI3Kδ) belongs to an intracellular lipid kinase family that regulate lymphocyte metabolism, survival, proliferation, apoptosis and migration and has been successfully targeted in B-cell malignancies. Primary Sjögren's syndrome (pSS) is a chronic immune-mediated inflammatory disease characterised by exocrine gland lymphocytic infiltration and B-cell hyperactivation which results in systemic manifestations, autoantibody production and loss of glandular function. Given the central role of B cells in pSS pathogenesis, we investigated PI3Kδ pathway activation in pSS and the functional consequences of blocking PI3Kδ in a murine model of focal sialoadenitis that mimics some features of pSS. Read More

JACC Clin Electrophysiol 2018 Nov 29;4(11):1473-1479. Epub 2018 Aug 29.

University of British Columbia, Vancouver, British Columbia, Canada. Electronic address:

Objectives: This study explored early repolarization (ER) pattern inheritance between survivors of unexplained cardiac arrest (UCA) and their first-degree relatives.

Background: ER is considered a factor that confers an increased risk of sudden death. A monogenic explanation for ER is seldom evident after cascade screening. Read More

Toxicon 2019 Jan 14;157:8-11. Epub 2018 Nov 14.

Facultad de Veterinaria, Universidad de León, Campus de Vegazana, León, Spain.

A disease characterized by ataxia, tremors and nystagmus had been observed in goats in Nicaragua. The main histologic lesions were loss and neuronal vacuolation of Purkinje cells and Wallerian-like degeneration mainly in the cerebellum, suggesting a glycoprotein storage disease. Ipomoea carnea and Ipomoea trifida found in the paddocks were negative for swainsonine, but contained calystegines at 0. Read More

Parkinsonism Relat Disord 2018 Nov 5. Epub 2018 Nov 5.

Department of Neuroscience "Rita Levi Montalcini", University of Turin, Torino, Italy. Electronic address:

Introduction: Pisa syndrome is a disabling, medication-resistant, postural abnormality that may affect 7-10% of patients with Parkinson's disease. In this study, we sought to assess the efficacy of botulinum toxin injections in Parkinson's disease-associated Pisa syndrome using a Magnetic Resonance Imaging-, Ultrasonography-, and Electromyography-guided combined approach.

Methods: We conducted a pilot study to evaluate the efficacy of botulinum toxin type-A injection in paraspinal and non-paraspinal axial muscles after a Magnetic Resonance Imaging and ultrasound-guided electromyography evaluation. Read More

Zoonoses Public Health 2019 02 12;66(1):35-46. Epub 2018 Nov 12.

University of Guelph, Guelph, Ontario, Canada.

Middle East respiratory syndrome coronavirus (MERS-CoV) is an emerging zoonotic pathogen discovered in 2012. The purpose of this scoping review was to summarize the empirical evidence for MERS-CoV in animals in order to map knowledge gaps and to extract data for modelling disease transmission in dromedary camels. A review protocol was developed a priori, and a systematic search, data extraction and summary were conducted using the Arksey and O'Malley framework. Read More

Spec Care Dentist 2019 Jan 12;39(1):65-71. Epub 2018 Nov 12.

Postgraduate Program, Dental College, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, RS, Brazil.

Gardner syndrome is a hereditary disease in which patients develop gastrointestinal polyps, osteomas, desmoid tumors, epidermoid cysts, fibromas, lipomas, and retinal lesions. Dental abnormalities such as supernumerary or impacted teeth, odontomas and dentigerous cysts are also reported. The most serious concern in this syndrome is the extremely high risk of gastrointestinal polyps undergoing malignant transformation. Read More

N Engl J Med 2018 11 7;379(22):2097-2107. Epub 2018 Nov 7.

From the Division of Cardiology, University of Colorado School of Medicine, Aurora (G.G.S.); Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris Diderot University, Sorbonne Paris Cité, FACT (French Alliance for Cardiovascular Trials), and INSERM Unité 1148 (P.G.S.), and Sanofi (C.H., G.L.) - all in Paris; the National Heart and Lung Institute, Imperial College, Royal Brompton Hospital, London (P.G.S.); the State University of New York Downstate School of Public Health, Brooklyn (M.S.), and Regeneron Pharmaceuticals, Tarrytown (R.P., W.J.S.) - both in New York; Brigham and Women's Hospital Heart and Vascular Center and Harvard Medical School, Boston (D.L.B.); the Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham (V.A.B.); Estudios Cardiológicos Latinoamérica, Instituto Cardiovascular de Rosario, Rosario, Argentina (R.D.); Sanofi, Bridgewater, NJ (J.M.E., A.M., J.-F.T.); the Canadian VIGOUR Centre, University of Alberta, Edmonton, and St. Michael's Hospital, University of Toronto, Toronto - both in Canada (S.G.G.); Stanford Center for Clinical Research, Department of Medicine, Stanford University, Stanford, CA (R.A.H., K.W.M.); the Department of Cardiology, Leiden University Medical Center, Leiden, the Netherlands (J.W.J.); Duke Clinical Research Institute, Duke University Medical Center (K.Q., M.T.R., P.T.), and the Division of Cardiology, Department of Medicine, Duke University School of Medicine (M.T.R.), Durham, NC; Green Lane Cardiovascular Services, Auckland City Hospital, Auckland, New Zealand (H.D.W.); and the Department of Medicine III, Goethe University, Frankfurt am Main, Germany (A.M.Z.).

Background: Patients who have had an acute coronary syndrome are at high risk for recurrent ischemic cardiovascular events. We sought to determine whether alirocumab, a human monoclonal antibody to proprotein convertase subtilisin-kexin type 9 (PCSK9), would improve cardiovascular outcomes after an acute coronary syndrome in patients receiving high-intensity statin therapy.

Methods: We conducted a multicenter, randomized, double-blind, placebo-controlled trial involving 18,924 patients who had an acute coronary syndrome 1 to 12 months earlier, had a low-density lipoprotein (LDL) cholesterol level of at least 70 mg per deciliter (1. Read More

Med Sci (Paris) 2018 Oct 7;34 Focus issue F1:20-25. Epub 2018 Nov 7.

M.S., D.D.S., Attending doctor, Department of Oral and Maxillofacial Surgery, First Affiliated Hospital, College of Medicine, Zhejiang University. 79# Qingchun Road, Hangzhou 310003, People's Republic of China.

Gardner's syndrome (GS) is an autosomal dominant disease characterized by the presence of familial adenomatous polyposis (FAP) as well as extraintestinal manifestations such as osteomas, dental anomalies, epidermoid cysts and ocular abnormalities. These intestinal polyps carry a 100% risk of malignant change, so early diagnosis is crucial. As craniofacial osteomas and dental anomalies of GS usually precede gastrointestinal symptoms, otolaryngologists, oral surgeons and dentists play an important role in the diagnosis of GS. Read More

Childs Nerv Syst 2019 Mar 25;35(3):395-402. Epub 2018 Oct 25.

Department of Anatomical Sciences, St. George's University, St. George, Grenada.

Introduction: Debilitating facial pain can seriously affect an individual's daily living. Given that the pathophysiology behind neuropathic and myofascial pain is not fully understood, when chronic facial pain goes undiagnosed, it has been proposed that one of the two is the likely cause. Since their discovery, glossopharyngeal neuralgia (GN) and Eagle's syndrome have been considered mostly conditions afflicting the adult population. Read More

Mol Genet Genomic Med 2019 Jan 21;7(1):e00476. Epub 2018 Oct 21.

Cardiac Inherited Disease Group, Auckland, New Zealand.

Background: Isolated cardiac arrhythmia due to a variant in CACNA1C is of recent knowledge. Most reports have been of singleton cases or of quite small families, and estimates of penetrance and expressivity have been difficult to obtain. We here describe a large pedigree, from which such estimates have been calculated. Read More

J Cutan Med Surg 2018 Nov/Dec;22(6):607

1 Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

BMJ Case Rep 2018 Sep 28;2018. Epub 2018 Sep 28.

Department of Otorhinolaryngology, Royal Manchester Children's Hospital, Manchester, UK.

We present the first case of upper airway obstruction secondary to a retropharyngeal Gardner-associated fibroma (GAF). A 16-month-old infant presented with a 3-month history of worsening dyspnoea and apnoeic episodes. Examination revealed stridor and left-sided retropharyngeal asymmetry. Read More

Int J Dermatol 2018 Sep 20. Epub 2018 Sep 20.

Division of Hematology/Oncology, Creighton University School of Medicine, Omaha, NE, USA.

Gardner-Diamond syndrome (GDS) is a rare psychodermatological condition characterized by the formation of spontaneous, painful skin lesions that develop into ecchymosis following episodes of severe physiological or psychological stress. The majority of GDS cases occur in young adult females, and although the etiology of this rare disorder is unknown, there appears to be a psychological component correlated with the coexistence of previous psychiatric diagnoses. Due to the rare nature of this disorder, there exist few guidelines for prompt clinical diagnosis and optimal treatment. Read More

Antiviral Res 2018 Nov 17;159:35-44. Epub 2018 Sep 17.

This article summarizes progress in research on Middle East Respiratory Syndrome (MERS) since a FAO-OIE-WHO Global Technical Meeting held at WHO Headquarters in Geneva on 25-27 September 2017. The meeting reviewed the latest scientific findings and identified and prioritized the global activities necessary to prevent, manage and control the disease. Critical needs for research and technical guidance identified during the meeting have been used to update the WHO R&D MERS-CoV Roadmap for diagnostics, therapeutics and vaccines and a broader public health research agenda. Read More

J Surg Case Rep 2018 Sep 1;2018(9):rjy209. Epub 2018 Sep 1.

Department of Surgery, University of California, Irvine, CA, USA.

Mesenteric fibromatosis (MF) is a locally aggressive proliferative spindle cell lesion of the mesentery. A 34-year-old male presented with increasing abdominal pain and constipation. On workup, patient was found to have a large pelvic mass on CT A/P concerning for cancer. Read More

Hua Xi Kou Qiang Yi Xue Za Zhi 2018 Aug;36(4):457-460

Dept. of Oral and Maxillofacial Surgery, Xiangya Stomatological Hospital, Central South University, Changsha 410008, China.

Gardner syndrome is a rare autosomal dominant disease. Its symptoms include multiple intestinal polyps, soft tissue tumors, dental disorders, osteoma, and congenital hypertrophy of the retinal pigment epithelium. Here, we present a patient with Gardner syndrome and chronic osteomyelitis of the jaw to highlight the serious damage that can be caused by Gardner syndrome. Read More

Int J Cancer 2019 Mar 9;144(5):1115-1127. Epub 2018 Oct 9.

Laboratorio de Oncología Molecular y Nuevos Blancos Terapéuticos, Instituto de Biología y Medicina Experimental (IBYME), CONICET, Buenos Aires, Argentina.

Metabolic syndrome (MeS) increases prostate cancer (PCa) risk and aggressiveness. C-terminal binding protein 1 (CTBP1) is a transcriptional co-repressor of tumor suppressor genes that is activated by low NAD /NADH ratio. Previously, our group established a MeS and PCa mice model that identified CTBP1 as a novel link associating both diseases. Read More

Methods Mol Biol 2018 ;1845:17-30

Rheumatology Research Group, Institute of Inflammation and Ageing (IIA), University of Birmingham, Queen Elizabeth Hospital, Birmingham, UK.

Inflammatory immune cells recruited at the site of chronic inflammation form structures that resemble secondary lymphoid organs (SLO). These are characterized by segregated areas of prevalent T- or B-cell aggregation, differentiation of high endothelial venules, and local activation of resident stromal cells, including lymphatic endothelial cells. B-cell proliferation and affinity maturation toward locally displayed autoantigens have been demonstrated at these sites, known as tertiary lymphoid structures (TLS). Read More

Front Immunol 2018 2;9:1511. Epub 2018 Jul 2.

Sepsis and Critical Illness Research Center, Department of Surgery, University of Florida College of Medicine, Gainesville, FL, United States.

Dysregulated host immune responses to infection often occur, leading to sepsis, multiple organ failure, and death. Some patients rapidly recover from sepsis, but many develop chronic critical illness (CCI), a debilitating condition that impacts functional outcomes and long-term survival. The "" (PICS) has been postulated as the underlying pathophysiology of CCI. Read More

J Nat Prod 2018 Jul 16;81(7):1682-1686. Epub 2018 Jul 16.

National Institute of Agricultural Research (INIA) , La Estanzuela, Colonia , CR 70.000 , Uruguay.

Indole diterpene alkaloids have been isolated from Ipomoea asarifolia and I. muelleri and are associated with a tremorgenic syndrome in livestock. To better characterize the tremorgenic activity of the major indole diterpene alkaloids in these two plants, terpendole K (1), 6,7-dehydroterpendole A (2), 11-hydroxy-12,13-epoxyterpendole K (3), terpendole C (5), paxilline (6), and a new compound, 6,7-dehydro-11-hydroxy-12,13-epoxyterpendole A (4), were isolated and evaluated for tremorgenic activity in a mouse model. Read More

Pediatr Dermatol 2018 Sep 1;35(5):548-551. Epub 2018 Jul 1.

Larrey Hospital, Paul Sabatier University, Toulouse, France.

Pilomatricoma is a common benign tumor in children. We present a review of the literature with the aim of helping clinicians manage these patients. A detailed review of the literature was performed in the PubMed database using an exhaustive list of Medical Subject Heading words. Read More

J Biomed Inform 2018 Aug 21;84:82-92. Epub 2018 Jun 21.

Research Center for Internal Medicine, University of Oulu, Oulu, Finland; Department of Internal Medicine, Oulu University Hospital, Oulu, Finland; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.

The formation of healthy habits is considered to play a fundamental role in health behavior change. A variety of studies on Health Behavior Change Support Systems (HBCSS) have been conducted recently, in which individuals use such systems to influence their own attitudes or behaviors to achieve their personal goals. However, comparatively much less research has been devoted to studying how the users of these systems form habits with the help of HBCSS, or to understanding how to design these systems to support habit formation. Read More

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. Read More

Parkinsonism Relat Disord 2018 Jul 8;52:1-5. Epub 2018 Jun 8.

Department of Neurology, UKSH, Christian-Albrechts University Kiel, Germany. Electronic address:

Introduction: Camptocormia is characterized by a pathological forward flexion of the trunk, which is reversible when lying and worsened by standing and walking. So far there is no consensus on how to measure the angle of flexion, and studies therefore give differing results. Harmonization is needed for both research and clinical practice. Read More

Proc (Bayl Univ Med Cent) 2018 Jul 9;31(3):347-349. Epub 2018 May 9.

Department of Dermatology, Baylor University Medical Center, Dallas, Texas.

We report the first case of a 34-year-old woman with histiocytoid Sweet syndrome (HSS) that was successfully treated with etanercept. HSS is a rare histological variant of acute febrile neutrophilic dermatosis that was described by Requena et al in 2005. It is distinguished by dermal infiltration by mononuclear cells with a histiocytic morphology. Read More

Int J Pediatr Otorhinolaryngol 2018 07 25;110:31-33. Epub 2018 Apr 25.

Department of Otolaryngology-Head and Neck Surgery, University of Colorado School of Medicine, Aurora, CO, USA; Department of Pediatric Otolaryngology, Children's Hospital Colorado, Aurora, CO, USA. Electronic address:

Mol Med Rep 2018 Jul 23;18(1):987-992. Epub 2018 May 23.

Clinical Medical Research Center, The Second Clinical Medical College, Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong 518020, P.R. China.

Gardner syndrome (GS), a variant of familial adenomatous polyposis, is a rare genetic disorder with autosomal dominant inheritance, characterized by the presence of multiple intestinal polyps, multiple osteomas, dental abnormalities and soft tissue tumors. To date, only a few gene mutations have been demonstrated to be responsible for GS. To explore potential unknown mutations responsible for GS, the present study used whole‑exome sequencing of two affected individuals from a family with GS to identify a candidate mutation in mutL‑homolog (MLH)1. Read More

Rev Gastroenterol Peru 2018 Jan-Mar;38(1):78-81

Universidad Peruana Cayetano Heredia. Lima, Perú.

Familial Adenomatous polyposis (FAP) it is based on an autosomal dominant mutation which results in loss of function of theAPC tumor suppressor gene. On the other hand, Gardner syndrome is a type of FAP and is characterized for multiple colonic adenomatous polyps and extracolonic abnormalities as desmoid tumors, osteomas, lipomas, dental abnormalities, dermoid cysts and duodenal adenomas. This report aims to present two patients with FAP: The first one is a patient who presented with osteomas and hematochezia, being diagnosed with Gardner Syndrome after the colonoscopy. Read More

Zhonghua Bing Li Xue Za Zhi 2018 May;47(5):354-359

Department of Pathology, First Affiliated Hospital of Yancheng City, Jiangsu Province, Yancheng 224005, China.

To investigate the clinicopathologic and molecular features of the rare cribriform morular variant of papillary thyroid carcinoma (CMV-PTC). The clinicopathologic data of 10 patients with CMV-PTC were retrospectively reviewed. Immunohistochemical (IHC) staining was done using LSAB method. Read More

Parkinsonism Relat Disord 2018 Aug 8;53:53-57. Epub 2018 May 8.

Neurology Unit, Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy. Electronic address:

Introduction: Camptocormia is defined as an involuntary, marked flexion of the thoracolumbar spine appearing during standing or walking and resolving in the supine position or when leaning against a wall. However, there is no established agreement on the minimum degree of forward flexion needed to diagnose camptocormia. Likewise, the current definition does not categorize camptocormia on the basis of the bending fulcrum. Read More

J Med Case Rep 2018 May 12;12(1):123. Epub 2018 May 12.

Department of Endocrine and Breast Surgery, First Affiliated Hospital of Chongqing Medical University, No.1 Yixueyuan Rd, Yuzhong District, Chongqing, 400016, People's Republic of China.

Background: Desmoid-type fibromatoses are rare benign and fibrous tumors that account for approximately 0.03% of total neoplasms. Within this category of neoplasms, pancreatic desmoid-type fibromatosis is an extremely rare subgroup, accounting for approximately 5% of desmoid-type fibromatoses. Read More

Synapse 2018 Aug 7;72(8):e22035. Epub 2018 Jun 7.

Neuropsychopharmacology Section, Intramural Research Program, National Institute on Drug Abuse, National Institutes of Health, Baltimore, Maryland.

Post-traumatic stress disorder (PTSD) is a debilitating psychiatric syndrome that occurs in individuals exposed to extremely threatening or traumatic events. In both animals and humans, dopamine (DA) function appears to be dysregulated in brain areas involved in the conditioned fear response(s) that underlie PTSD. In this study, we determined the effect of the selective DA D receptor antagonists YQA14A (6. Read More

Can J Psychiatry 2018 Jan 1:706743718760288. Epub 2018 Jan 1.

12 Department of Psychiatry, Imperial College London, London, UK.

Akathisia is a common and distressing neuropsychiatric syndrome associated with antipsychotic medication, characterised by subjective and objective psychomotor restlessness. The goal of this guideline is to provide clinicians with recommendations on the assessment and treatment of akathisia. We performed a systematic review of therapeutic studies assessing the treatment of antipsychotic-induced extrapyramidal symptoms. Read More