52,258 results match your criteria Brown Syndrome

Markers of early changes in cognition across cohorts of adults with Down syndrome at risk of Alzheimer's disease.

Alzheimers Dement (Amst) 2021 2;13(1):e12184. Epub 2021 May 2.

Institute of Psychiatry, Psychology, and Neuroscience Department of Forensic and Neurodevelopmental Sciences King's College London London UK.

Introduction: Down syndrome (DS), a genetic variant of early onset Alzheimer's disease (AD), lacks a suitable outcome measure for prevention trials targeting pre-dementia stages.

Methods: We used cognitive test data collected in several longitudinal aging studies internationally from 312 participants with DS without dementia to identify composites that were sensitive to change over time. We then conducted additional analyses to provide support for the utility of the composites. Read More

View Article and Full-Text PDF

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Nat Commun 2021 May 7;12(1):2558. Epub 2021 May 7.

Department of Pediatric Neurophysiology AP-HP, Necker Enfants Malades Hospital, Paris University, Paris, France.

GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of spliceosomes. Here, we have identified 30 affected individuals from 22 unrelated families presenting with developmental delay, hypotonia, and cerebellar ataxia harboring biallelic variants in the GEMIN5 gene. Mutations in GEMIN5 perturb the subcellular distribution, stability, and expression of GEMIN5 protein and its interacting partners in patient iPSC-derived neurons, suggesting a potential loss-of-function mechanism. Read More

View Article and Full-Text PDF

Combination anti-PD1 and ipilimumab therapy in patients with advanced melanoma and pre-existing autoimmune disorders.

J Immunother Cancer 2021 May;9(5)

Department of Medical Oncology, Westmead and Blacktown Hospital, New South Wales, New South Wales, Australia

Background: Clinical trials of immunotherapy have excluded patients with pre-existing autoimmune disease. While the safety and efficacy of single agent ipilimumab and anti-PD1 antibodies in patients with autoimmune disease has been examined in retrospective studies, no data are available for combination therapy which has significantly higher toxicity risk. We sought to establish the safety and efficacy of combination immunotherapy for patients with advanced melanoma and pre-existing autoimmune diseases. Read More

View Article and Full-Text PDF

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Am J Hum Genet 2021 May;108(5):857-873

GeneDx, Gaithersburg, MD 20877, USA.

The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe an autosomal dominant disorder associated with de novo missense variants in the degron of AFF3, a nine amino acid sequence important for its binding to ubiquitin ligase, or with de novo deletions of this region. The sixteen affected individuals we identified, along with two previously reported individuals, present with a recognizable pattern of anomalies, which we named KINSSHIP syndrome (KI for horseshoe kidney, NS for Nievergelt/Savarirayan type of mesomelic dysplasia, S for seizures, H for hypertrichosis, I for intellectual disability, and P for pulmonary involvement), partially overlapping the AFF4-associated CHOPS syndrome. Read More

View Article and Full-Text PDF

Challenges in the Diagnosis and Assessment in Patients with Tourette Syndrome and Comorbid Obsessive-Compulsive Disorder.

Neuropsychiatr Dis Treat 2021 30;17:1253-1266. Epub 2021 Apr 30.

Clinic of Psychiatry, Socialpsychiatry and Psychotherapy, Hannover Medical School, Hannover, Germany.

Tourette syndrome (TS) is characterized by the presence of vocal and motor tics with an onset in childhood. In almost 80% of patients psychiatric comorbidities coexist, particularly, attention deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD) or behavior (OCB), depression, anxiety, rage attacks, and self-injurious behaviour (SIB). In this review, we discuss current state of the art regarding diagnosis and assessment of tics and OCD in patients with TS as well as challenges related to differential diagnosis between tics and OCD-related phenomena based on a systematic literature search. Read More

View Article and Full-Text PDF

Rapid resolution of a third nerve palsy from pituitary apoplexy.

BMJ Case Rep 2021 May 6;14(5). Epub 2021 May 6.

Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada

A 49-year-old man presented with new onset headache and diplopia, with right ptosis and limitation of extraocular movements consistent with a third nerve palsy. He had a known diagnosis of a non-functioning pituitary adenoma, and his presentation and neuroimaging were consistent with ischaemic pituitary apoplexy. The patient was otherwise stable with no signs of optic neuropathy or endocrine abnormality. Read More

View Article and Full-Text PDF

Two degree-of-freedom robotic eye: design, modeling, and learning-based control in foveation and smooth pursuit.

Bioinspir Biomim 2021 May 5. Epub 2021 May 5.

Electrical and Computer Engineering, George Mason University, 4400, University Drive, Fairfax, Virginia, 22030-4444, UNITED STATES.

With increasing ocular motility disorders affecting human eye movement, the need to understand the biomechanics of the human eye rises constantly. A robotic eye system that physically mimics the human eye can serve as a useful tool for biomedical researchers to obtain an intuitive understanding of the functions and defects of the extraocular muscles and the eye. This paper presents the design, modeling, and control of a two degree-of-freedom (2-DOF) robotic eye, driven by artificial muscles, in particular, made of super-coiled polymers (SCPs). Read More

View Article and Full-Text PDF

Lacosamide induced Brugada I morphology in the setting of septicemia: A case report.

Medicine (Baltimore) 2021 May;100(18):e25577

Department of Laboratory Medicine.

Introduction: Brugada syndrome may be unmasked by non-antiarrhythmic pharmaceuticals or drugs. Lacosamide is an antiepileptic agent with a novel mechanism of sodium channel inhibition and has the potential to cause cardiac sodium channel blockade.

Patient Concerns: In this report, we describe the case of patient with a history of a seizure disorder who presented with Brugada I electrocardiogram morphology in the setting of septicemia. Read More

View Article and Full-Text PDF

SARS-CoV-2-Associated Guillain-Barre Syndrome Obscured by Diabetes Mellitus Peripheral Neuropathy.

Cureus 2021 Mar 31;13(3):e14209. Epub 2021 Mar 31.

Internal Medicine, Medical College of Wisconsin, Milwaukee, USA.

Multiple neurological complications, including Guillain-Barre syndrome (GBS), have been reported in association with the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outbreak. GBS has well-known associations with viruses such as influenza, human immunodeficiency virus, Zika, severe acute respiratory syndrome, Middle East respiratory syndrome, Epstein-Barr virus, and cytomegalovirus. Till date, there have been around 50 distinct published cases of GBS occurring concurrently or shortly after SARS-CoV-2 infection. Read More

View Article and Full-Text PDF

Is Persistent Motor or Vocal Tic Disorder a Milder Form of Tourette Syndrome?

Mov Disord 2021 May 4. Epub 2021 May 4.

Department of Psychiatry, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.

Background: Persistent motor or vocal tic disorder (PMVT) has been hypothesized to be a forme fruste of Tourette syndrome (TS). Although the primary diagnostic criterion for PMVT (presence of motor or vocal tics, but not both) is clear, less is known about its clinical presentation.

Objective: The goals of this study were to compare the prevalence and number of comorbid psychiatric disorders, tic severity, age at tic onset, and family history for TS and PMVT. Read More

View Article and Full-Text PDF

Patients Undergoing Ileoanal Pouch Surgery Experience a Constellation of Symptoms and Consequences Representing a Unique Syndrome A Report from the Patient Reported Outcomes after Pouch Surgery (PROPS) Delphi Consensus Study.

Dis Colon Rectum 2021 04 30. Epub 2021 Apr 30.

Department of General Surgery, Massachusetts General Hospital, Boston, Massachusetts Department of Colorectal Surgery, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK Department of Surgery, University of Auckland, Auckland, New Zealand Division of General Surgery, Department of Surgery, Mount Sinai Hospital, University of Toronto, Toronto, Canada Division of Colon & Rectum Surgery, Beth Israel-Deaconess Health Medical Center, Harvard Medical School, Boston, Massachusetts, USA Patient Advocate, Blogger, www.rasheedclarke.com Division of Colon and Rectal Surgery, Department of Surgery, Stony Brook University Hospital. Stony Brook, New York, USA Patient Advocate, Blogger, www.colitisninja.com Department of Gastroenterology and Hepatology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands Department of Surgery, University of Michigan, Ann Arbor, Michigan, USA. Department of Colon and Rectal Surgery, Cleveland Clinic, Cleveland, Ohio, USA. Department of Surgery, Division of Colon & Rectal Surgery, Pennsylvania State University College of Medicine, Hershey, Pennsylvania, USA Department of Surgery, County Council of Östergötland, and Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden Crohn's and Colitis Center, Brigham and Women's Hospital, Boston, Massachusetts, USA Department of Colorectal Surgery, Cleveland Clinic Florida, Weston, Florida, USA Department of Surgery, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA Division of Colorectal Surgery, Cedars-Sinai Medical Center, Los Angeles, California, USA MGH Colorectal Surgery and Crohn's Colitis Centers, Department of Gastrointestinal Surgery and Surgical Oncology, Boston, Massachusetts, USA.

Background: Functional outcomes after ileoanal pouch creation have been studied; however, there is great variability in how relevant outcomes are defined and reported. More importantly, the perspective of patients has not been represented in deciding which outcomes should be the focus of research.

Objective: The primary aim was to create a patient-centered definition of core symptoms that should be included in future studies of pouch function. Read More

View Article and Full-Text PDF

A Rare Case of Cutaneous T-Cell Lymphoma Accompanied by Acute Monoblastic Leukemia and Diffuse Large B-Cell Lymphoma.

Ann Dermatol 2021 Apr 8;33(2):178-181. Epub 2021 Mar 8.

Department of Dermatology, Hallym University Sacred Heart Hospital, Anyang, Korea.

A 70-year-old female was referred for brown-to-gray colored papules and nodules on her lower legs. She had been diagnosed with diffuse large B-cell lymphoma (DLBCL) in her stomach, and myelodysplastic syndrome (MDS) by bone marrow biopsy. Three years after complete remission of DLBCL, she experienced DLBCL recurrence in her small bowel and was hospitalized. Read More

View Article and Full-Text PDF

Nicotinamide provides neuroprotection in glaucoma by protecting against mitochondrial and metabolic dysfunction.

Redox Biol 2021 Apr 24;43:101988. Epub 2021 Apr 24.

Department of Clinical Neuroscience, Division of Eye and Vision, St. Erik Eye Hospital, Karolinska Institutet, Stockholm, Sweden. Electronic address:

Nicotinamide adenine dinucleotide (NAD) is a REDOX cofactor and metabolite essential for neuronal survival. Glaucoma is a common neurodegenerative disease in which neuronal levels of NAD decline. We assess the effects of nicotinamide (a precursor to NAD) on retinal ganglion cells (the affected neuron in glaucoma) in normal physiological conditions and across a range of glaucoma relevant insults including mitochondrial stress and axon degenerative insults. Read More

View Article and Full-Text PDF

Comparative Effectiveness and Safety of Prasugrel versus Ticagrelor following Percutaneous Coronary Intervention: An Observational Study.

Pharmacotherapy 2021 May 1. Epub 2021 May 1.

College of Pharmacy, University of Rhode Island, Kingston, Rhode Island.

Background: Observational studies comparing ticagrelor and prasugrel in patients with acute coronary syndrome (ACS) undergoing percutaneous coronary intervention (PCI) have yielded contradictory results, but these studies often did not consider differential censoring (e.g., for treatment switching or insurance disenrollment) or confounding by time-dependent factors. Read More

View Article and Full-Text PDF

Superior oblique split lengthening procedure for brown syndrome, outcomes and complications.

Br J Ophthalmol 2021 Apr 30. Epub 2021 Apr 30.

Pediatric Surgery, Division of Pediatric Ophthalmology, National Guard Health Affairs, Riyadh, Saudi Arabia

Introduction: To evaluate the outcomes of the superior oblique split tendon lengthening (SOSL) procedure for Brown syndrome (BS).

Methods: At a single institution, all patients who underwent SOSL surgery for BS from 2013 to 2019 were reviewed retrospectively. We looked at the surgical outcomes and complications in a total of 20 eyes of 18 patients. Read More

View Article and Full-Text PDF

Humility and Acceptance: Working Within Our Limits With Long COVID and Myalgic Encephalomyelitis/Chronic Fatigue Syndrome.

J Orthop Sports Phys Ther 2021 05;51(5):197-200

Synopsis: The term was coined by patients to describe the long-term consequences of COVID-19. One year into the pandemic, it was clear that all patients-those hospitalized with COVID-19 and those who lived with the disease in the community-were at risk of developing debilitating sequelae that would impact their quality of life. Patients with long COVID asked for rehabilitation. Read More

View Article and Full-Text PDF

[Prism-Induced Gaze Shift and Strabismus Treatment for Ocular Motility Disorders and Anomalous Head Posture].

Klin Monbl Augenheilkd 2021 Apr 30;238(4):474-477. Epub 2021 Apr 30.

Augenklinik, Kantonsspital St. Gallen, Schweiz.

Background: The therapeutic treatment of ocular motility disorders and anomalous head postures (AHP) is often challenging. We report our experience with prism use in these patients.

Patients And Methods: Retrospective case series of three patients with ocular motility disorders and associated AHP who were treated with prism correction. Read More

View Article and Full-Text PDF

[Acute Acquired Comitant Esotropia Type 2 - A Retrospective Analysis].

Klin Monbl Augenheilkd 2021 Apr 30;238(4):504-509. Epub 2021 Apr 30.

Augenklinik, UniversitätsSpital Zürich, Schweiz.

Background: Acute acquired comitant esotropia (AACE) is an uncommon form of strabismus. The main characteristics of AACE Type 2 in childhood are: acute onset of strabismus around 3 years of age, large and comitant angle of strabismus, absence of accommodative component, hyperopia of not more than 3 dpt, and measurable stereopsis. Strabismus surgery is urgently indicated in AACE Type 2 in order to avoid maldevelopment or loss of stereopsis. Read More

View Article and Full-Text PDF

[Inferior Rectus Myopexy: Indications and Long-Term Results].

Klin Monbl Augenheilkd 2021 Apr 30;238(4):499-503. Epub 2021 Apr 30.

Strabologie et ophtalmologie pédiatrique, Université de Lausanne, Hôpital ophtalmique Jules-Gonin, Fondation Asile des aveugles, Lausanne, Schweiz.

Purpose: The rectus inferior myopexy is often used in vertical incomitant deviations without significant deviation in primary position. We analysed the long-term results in different pathologies.

Methods: Retrospective study of patients operated on rectus inferior myopexy between 1984 and 2018. Read More

View Article and Full-Text PDF

[Nishida Extraocular Muscle Transposition Surgery for Abducens Nerve Palsy].

Klin Monbl Augenheilkd 2021 Apr 30;238(4):493-498. Epub 2021 Apr 30.

Augenklinik, Kantonsspital St. Gallen, Schweiz.

Background: Surgical treatment of abducens nerve palsy depends on the remaining function of the lateral rectus muscle. Vertical rectus transposition surgery is indicated if the attempted maximal abduction effort does not rotate the eye beyond the midline. After the first description more than 100 years ago, a variety of muscle transposition modifications have been suggested. Read More

View Article and Full-Text PDF

Clinical Classification of Acquired Concomitant Esotropia.

Klin Monbl Augenheilkd 2021 Apr 30;238(4):482-487. Epub 2021 Apr 30.

Department of Ophthalmology, University of Lausanne, Jules-Gonin Eye Hospital, Fondation Asile des aveugles, Lausanne, Switzerland.

Background: Classification and management of acquired concomitant esotropia is controversial. We sought to establish a simple clinical classification in order to determine in which cases further investigations in search of underlying pathologies are necessary.

Patients And Methods: Observational retrospective study of the files of 175 consecutive patients examined in our unit between 2009 and 2018 for acute convergent strabismus. Read More

View Article and Full-Text PDF

Comparing Botulinum Toxin Injections with Extraocular Muscle Surgery in Toddlers with Esotropia: A Retrospective Analysis.

Klin Monbl Augenheilkd 2021 Apr 30;238(4):478-481. Epub 2021 Apr 30.

Ophthalmology, Universitätsspital Basel Augenklinik, Basel, Switzerland.

Background: In toddlers with esotropia, early alignment of the visual axes either with extraocular muscle surgery (EOMS) or botulinum toxin injections (BTIs) into both medial rectus muscles may result in improved depth perception. We compared the outcome of BTIs with EOMS in toddlers in order to gain further insight into the advantages and disadvantages of either method.

Patients And Methods: In this retrospective study, our encrypted database was searched for toddlers with esotropia aged 35 months or younger at the time of initial treatment with either BTIs or EOMS and who had a follow-up of at least 2 years. Read More

View Article and Full-Text PDF

Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders.

Turk J Pediatr 2021 ;63(2):314-318

Department of Pediatric Metabolism, Çukurova University Faculty of Medicine, Adana, Turkey.

Background: Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder with a variable clinical presentation, caused by mutations in three different riboflavin transporter genes.

Case: An 11-year-old-boy presented with respiratory insufficiency and a rapidly progressive muscle weakness. He was the fifth child of a consanguineous marriage with a medical history of hearing loss. Read More

View Article and Full-Text PDF
January 2021

Case Report: Blurred Vision and Eruptive Nevi - Bilateral Diffuse Uveal Melanocytic Proliferation With Mucocutaneous Involvement in a Lung Cancer Patient.

Front Oncol 2021 13;11:658407. Epub 2021 Apr 13.

Eye Center, University Hospital Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

We describe a case of a 65-year old patient presenting with unusual mucocutaneous melanocytic proliferations of a Bilateral Diffuse Uveal Melanocytic Proliferation (BDUMP) imitating a multifocal melanoma in situ, which improved dramatically after plasmapheresis. The patient first presented at the dermatology department due to rapidly evolving brown and black macules on the glans penis. Further skin involvement of the perineal and perianal region, mamillae and oral mucosa was stated. Read More

View Article and Full-Text PDF

A 2-Year-Old Girl with Multisystem Inflammatory Syndrome in Children (MIS-C).

R I Med J (2013) 2021 May 3;104(4):49-52. Epub 2021 May 3.

Associate Professor of Emergency Medicine, Clinician Educator; Associate Professor of Pediatrics, Clinician Educator, Alpert Medical School of Brown University, Providence, RI.

View Article and Full-Text PDF

A Pain in the Neck Diagnosis: Crowned Dens Syndrome.

R I Med J (2013) 2021 May 3;104(4):40. Epub 2021 May 3.

Assistant Professor of Emergency Medicine, Clinical Educator, Assistant Program Director, Brown Emergency Medicine Residency, Department of Emergency Medicine, Alpert Medical School of Brown University.

View Article and Full-Text PDF

Ovariectomy-Induced Hepatic Lipid and Cytochrome P450 Dysmetabolism Precedes Serum Dyslipidemia.

Int J Mol Sci 2021 Apr 26;22(9). Epub 2021 Apr 26.

Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine, 14021 Prague, Czech Republic.

Ovarian hormone deficiency leads to increased body weight, visceral adiposity, fatty liver and disorders associated with menopausal metabolic syndrome. To better understand the underlying mechanisms of these disorders in their early phases of development, we investigated the effect of ovariectomy on lipid and glucose metabolism. Compared to sham-operated controls, ovariectomized Wistar female rats markedly increased whole body and visceral adipose tissue weight ( ˂ 0. Read More

View Article and Full-Text PDF

Cross-Sectional Exploration of Plasma Biomarkers of Alzheimer's Disease in Down Syndrome: Early Data from the Longitudinal Investigation for Enhancing Down Syndrome Research (LIFE-DSR) Study.

J Clin Med 2021 Apr 28;10(9). Epub 2021 Apr 28.

Department of Psychiatry, Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, USA.

With improved healthcare, the Down syndrome (DS) population is both growing and aging rapidly. However, with longevity comes a very high risk of Alzheimer's disease (AD). The LIFE-DSR study (NCT04149197) is a longitudinal natural history study recruiting 270 adults with DS over the age of 25. Read More

View Article and Full-Text PDF

Untargeted Metabolomics Insights into Newborns with Congenital Zika Infection.

Pathogens 2021 Apr 13;10(4). Epub 2021 Apr 13.

Departamento de Química Analítica, Instituto de Química, Universidade Federal da Bahia, Rua Barao de Jeremoabo, 147, Salvador, BA 40170-115, Brazil.

Zika virus (ZIKV), an emerging virus belonging to the Flaviviridae family, causes severe neurological clinical complications and has been associated with Guillain-Barré syndrome, fetal abnormalities known collectively as congenital Zika syndrome, and microcephaly. Studies have shown that ZIKV infection can alter cellular metabolism, directly affecting neural development. Brain growth requires controlled cellular metabolism, which is essential for cell proliferation and maturation. Read More

View Article and Full-Text PDF

Hepatic Transcriptome Profiling Reveals Lack of Expression in Polydactylous Rats with High-Fat Diet-Induced Hypertriglyceridemia and Visceral Fat Accumulation.

Nutrients 2021 Apr 25;13(5). Epub 2021 Apr 25.

Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital, 128 00 Prague, Czech Republic.

Metabolic syndrome (MetS) is an important cause of worldwide morbidity and mortality. Its complex pathogenesis includes, on the one hand, sedentary lifestyle and high caloric intake, and, on the other hand, there is a clear genetic predisposition. PD (Polydactylous rat) is an animal model of hypertriglyceridemia, insulin resistance, and obesity. Read More

View Article and Full-Text PDF