2,568 results match your criteria CREST Syndrome

Maigne Syndrome - A potentially treatable yet underdiagnosed cause of low back pain: A review.

J Back Musculoskelet Rehabil 2021 Jun 15. Epub 2021 Jun 15.

Department of Physical Medicine and Rehabilitation, Schulich School of Medicine and Dentistry, Western University, St Joseph's Health Care, London, Ontario, Canada.

Background: First discussed by Dr. Robert Maigne in the late 1980s, Maigne Syndrome is an often unrecognized and treatable cause of low back pain. It can be separated into two distinct entities. Read More

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Cerebrofacial vascular metameric syndrome associated with Moyamoya syndrome: a rare case report.

Childs Nerv Syst 2021 Jun 18. Epub 2021 Jun 18.

Graduated in Medicine, CESMAC University Center, Maceió, Alagoas, Brazil.

Introduction: Neural crest and mesoderm cell dysfunction of certain metameric level result in vascular malformations, i.e., cerebrofacial arteriovenous metameric syndrome (CAMS) and cerebrofacial venous metameric syndrome (CVMS). Read More

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Forecasting the spread of COVID-19 using LSTM network.

BMC Bioinformatics 2021 Jun 10;22(Suppl 6):316. Epub 2021 Jun 10.

Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, 230-0045, Japan.

Background: The novel coronavirus (COVID-19) is caused by severe acute respiratory syndrome coronavirus 2, and within a few months, it has become a global pandemic. This forced many affected countries to take stringent measures such as complete lockdown, shutting down businesses and trade, as well as travel restrictions, which has had a tremendous economic impact. Therefore, having knowledge and foresight about how a country might be able to contain the spread of COVID-19 will be of paramount importance to the government, policy makers, business partners and entrepreneurs. Read More

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Quantitative circular flow immunoassays with trained object recognition to detect antibodies to SARS-CoV-2 membrane glycoprotein.

Biochem Biophys Res Commun 2021 Aug 29;565:8-13. Epub 2021 May 29.

Department of Biology, State University, San Diego, USA. Electronic address:

Amidst infectious disease outbreaks, a practical tool that can quantitatively monitor individuals' antibodies to pathogens is vital for disease control. The currently used serological lateral flow immunoassays (LFIAs) can only detect the presence of antibodies for a single antigen. Here, we fabricated a multiplexed circular flow immunoassay (CFIA) test strip with YOLO v4-based object recognition that can quickly quantify and differentiate antibodies that bind membrane glycoprotein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) or hemagglutinin of influenza A (H1N1) virus in the sera of immunized mice in one assay using one sample. Read More

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Development of a Conceptual Framework for Severe Self-Neglect (SN) by Modifying the CREST Model for Self-Neglect.

Front Med (Lausanne) 2021 17;8:654627. Epub 2021 May 17.

Biology Academic Department, Fort Valley State University, Fort Valley, GA, United States.

Self-neglect is an inability or refusal to meet one's own basic needs as accepted by societal norms and is the most common report received by state agencies charged with investigating abuse, neglect and exploitation of vulnerable adults. Self-neglect is often seen in addition to one or multiple conditions of frailty, mild to severe dementia, poor sleep and depression. While awareness of elder self-neglect as a public health condition and intervention has significantly risen in the past decade as evidenced by the increasing amount of literature available, research on self-neglect still lacks comprehensiveness and clarity since its inception to the medical literature in the late 1960s. Read More

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Augmented BMP4 signal impairs tongue myogenesis.

J Mol Histol 2021 Jun 2. Epub 2021 Jun 2.

School and Hospital of Stomatology, Fujian Medical University, Fuzhou, Fujian, People's Republic of China.

Tongue muscles are derived from mesodermal cells, while signals driven by cranial neural crest cells (CNCCs) regulate tongue myogenesis via tissue-tissue interaction. Based on such mechanisms of interaction, congenital tongue defects occur in CNC-related syndromes in humans. This study utilized a pathologic model for the syndrome of congenital bony syngnathia, Wnt1-Cre;pMes-Bmp4 mouse line, to explore impacts of enhanced CNCCs-originated BMP4 signal on tongue myogenesis via tissue-tissue interaction. Read More

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PAK1 inhibition reduces tumor size and extends the lifespan of mice in a genetically engineered mouse model of Neurofibromatosis Type 2 (NF2).

Hum Mol Genet 2021 Jun 1. Epub 2021 Jun 1.

Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana.

Neurofibromatosis Type II (NF2) is an autosomal dominant cancer predisposition syndrome in which germline haploinsufficiency at the NF2 gene confers a greatly increased propensity for tumor development arising from tissues of neural crest derived origin. NF2 encodes the tumor suppressor, Merlin, and its biochemical function is incompletely understood. One well established function of Merlin is as a negative regulator of group A serine/threonine p21 activated kinases (PAKs). Read More

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Variation in phenotypes from a Bmp-Gata3 genetic pathway is modulated by Shh signaling.

PLoS Genet 2021 May 25;17(5):e1009579. Epub 2021 May 25.

Department of Molecular Biosciences, University of Texas at Austin, Austin, Texas, United States of America.

We sought to understand how perturbation of signaling pathways and their targets generates variable phenotypes. In humans, GATA3 associates with highly variable defects, such as HDR syndrome, microsomia and choanal atresia. We previously characterized a zebrafish point mutation in gata3 with highly variable craniofacial defects to the posterior palate. Read More

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Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.

Transl Pediatr 2021 Apr;10(4):733-745

Clinical Genetic Center, Children's Hospital of Fudan University, Shanghai, China.

Background: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant disorder caused by pathogenic variants in paired-like homeobox 2B () gene. Characteristics of neonatal-onset CCHS cases have not been well assessed. The aim of this study is to expand current knowledge of clinical and genetic features of neonates with CCHS and provide data on the genotype-phenotype correlation. Read More

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Impact of Prior Stroke on Long-Term Outcomes in Patients With Acute Coronary Syndrome.

Circ Rep 2021 Apr 9;3(5):267-272. Epub 2021 Apr 9.

Department of Cardiovascular Biology and Medicine, Juntendo University Graduate School of Medicine Tokyo Japan.

Cerebrovascular disease often coexists with coronary artery disease (CAD), and it has been associated with worse clinical outcomes in CAD patients. However, the prognostic effect of prior stroke on long-term outcomes in patients with acute coronary syndrome (ACS) is still unclear. An observational cohort study of ACS patients who underwent emergency percutaneous coronary intervention (PCI) between January 1999 and May 2015 was conducted. Read More

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The Chromatin Regulator Controls Palate and Cranial Bone Development.

Front Cell Dev Biol 2021 29;9:645386. Epub 2021 Apr 29.

Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.

Epigenetic and chromatin regulation of craniofacial development remains poorly understood. Ankyrin Repeat Domain 11 () is a chromatin regulator that has previously been shown to control neural stem cell fates via modulation of histone acetylation. gene variants, or microdeletions of the 16q24. Read More

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Altered regulation of cell migration in IRF6-mutated orofacial cleft patients-derived primary cells reveals a novel role of Rho GTPases in cleft/lip palate development.

Cells Dev 2021 Mar 17;166:203674. Epub 2021 Mar 17.

Department of Natural Sciences, School of Arts and Sciences, Lebanese American University, Beirut, Lebanon. Electronic address:

Orofacial clefts are the most common congenital craniofacial birth defects. They occur from a failure in cell proliferation and fusion of neural crest cells of the lip buds and/or palatal shelves. In this study, we investigate the genetic basis and molecular mechanisms in primary cells derived from a cleft and lip palate patient presenting van der Woude syndrome (VWS). Read More

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Catastrophic, Bilateral Retinal Vascular Occlusion after Intravitreal Bevacizumab Injection.

Retin Cases Brief Rep 2021 May 10. Epub 2021 May 10.

West Coast Retina Medical Group, San Francisco, California. The Department of Ophthalmology, California Pacific Medical Center, San Francisco, California. Massachusetts Eye and Ear Infirmary, Harvard Medical School, Ocular Immunology and Uveitis Service, Boston, Massachusetts. The Department of Ophthalmology, Stanford University School of Medicine, Stanford, California. The Francis I. Proctor Foundation, UCSF School of Medicine, San Francisco, California. Massachusetts Eye and Ear Infirmary, Harvard Medical School, Vitreoretinal Service, Boston, Massachusetts. Ophthalmic Consultants of Boston, Vitreoretinal Service, Boston, Massachusetts. Ophthalmic Consultants of Boston, Uveitis Service, Boston, Massachusetts.

Purpose: To describe two cases of catastrophic, bilateral retinal vascular occlusion following intravitreal (IVT) bevacizumab injection.

Methods: Case series. Main outcome measures included clinical and fluorescein angiography (FA) findings. Read More

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Predicting outcome following mild traumatic brain injury: protocol for the longitudinal, prospective, observational Concussion Recovery () cohort study.

BMJ Open 2021 05 13;11(5):e046460. Epub 2021 May 13.

Curtin Health Innovation Research Institute, Curtin University Faculty of Health Sciences, Bentley, Western Australia, Australia

Introduction: Mild traumatic brain injury (mTBI) is a complex injury with heterogeneous physical, cognitive, emotional and functional outcomes. Many who sustain mTBI recover within 2 weeks of injury; however, approximately 10%-20% of individuals experience mTBI symptoms beyond this 'typical' recovery timeframe, known as persistent post-concussion symptoms (PPCS). Despite increasing interest in PPCS, uncertainty remains regarding its prevalence in community-based populations and the extent to which poor recovery may be identified using early predictive markers. Read More

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Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations.

J Clin Sleep Med 2021 May 13. Epub 2021 May 13.

Department of Pediatrics, Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, CA.

Study Objectives: Congenital central hypoventilation syndrome (CCHS) is a rare disorder affecting the autonomic nervous system that is caused by variants in the PHOX2B gene. About 10% of patients with CCHS have nonpolyalanine repeat mutations (NPARM) that are associated with severe phenotypes requiring continuous assisted ventilation, Hirschsprung's disease, and increased neural crest tumor risk. However, some patients with NPARMs have milder phenotypes. Read More

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Biventricular affection in CREST syndrome.

Eur Heart J Cardiovasc Imaging 2021 May 8. Epub 2021 May 8.

Department of Cardiology, Klinikum rechts der Isar, Technical University of Munich, Ismaninger Straße 22, 81675 Munich, Germany.

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A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome.

Endocrinol Diabetes Metab Case Rep 2021 Apr 1;2021. Epub 2021 Apr 1.

Division of Endocrinology and MetabolismDepartment of Internal Medicine, School of Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan.

Summary: The underlying genetic drivers of Kallmann syndrome, a rare genetic disorder characterized by anosmia and hypogonadotropic hypogonadism due to impairment in the development of olfactory axons and in the migration of gonadotropin-releasing hormone (GNRH)-producing neurons during embryonic development, remain largely unknown. SOX10, a key transcription factor involved in the development of neural crest cells and established as one of the causative genes of Waardenburg syndrome, has been shown to be a causative gene of Kallmann syndrome. A 17-year-old male patient, who was diagnosed with Waardenburg syndrome on the basis of a hearing impairment and hypopigmented iris at childhood, was referred to our department because of anosmia and delayed puberty. Read More

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Aneurysmal Subarachnoid Hemorrhage.

Neurol Clin 2021 05 31;39(2):419-442. Epub 2021 Mar 31.

Department of Neurology, Boston University School of Medicine, Boston Medical Center, Boston, MA, USA; Department of Neurosurgery, Boston University School of Medicine, Boston Medical Center, Boston, MA, USA; Department of Radiology, Boston University School of Medicine, Boston Medical Center, Boston, MA, USA.

Aneurysmal subarachnoid hemorrhage is a neurologic emergency that requires immediate patient stabilization and prompt diagnosis and treatment. Early measures should focus on principles of advanced cardiovascular life support. The aneurysm should be evaluated and treated in a comprehensive stroke center by a multidisciplinary team capable of endovascular and, operative approaches. Read More

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Prostate-Specific Membrane Antigen Expression in Patients With Differentiated Thyroid Cancer With Thyroglobulin Elevation and Negative Iodine Scintigraphy Using 68Ga-PSMA-HBED-CC PET/CT.

Clin Nucl Med 2021 Apr 21. Epub 2021 Apr 21.

From the Radiation Medicine Centre, Bhabha Atomic Research Centre Department of Endocrinology, Seth G. S. Medical College and KEM Hospital, Mumbai, Maharashtra, India.

Purpose Of The Report: Prostate-specific membrane antigen (PSMA) is a member of superfamily of zinc-dependent exopeptidases that is robustly expressed in prostate cancer cells and nonprostatic solid tumor neovasculature including microvessels of thyroid tumors. Its expression in differentiated thyroid cancer (DTC) has been confirmed in many recent studies, but systematic studies exploring PSMA expression in patients with DTC with thyroglobulin elevation and negative iodine scintigraphy (TENIS) are lacking. The aim of the present study was to evaluate the role of PSMA scan in TENIS patients with DTC. Read More

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NH-terminal deletion of specific phosphorylation sites on PHOX2B disrupts the formation of enteric neurons in vivo.

Am J Physiol Gastrointest Liver Physiol 2021 Jun 21;320(6):G1054-G1066. Epub 2021 Apr 21.

Developmental Biology and Regenerative Medicine Program, The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, California.

Mutations in the paired-like homeobox 2 b () gene are associated with congenital central hypoventilation syndrome (CCHS), which is a rare condition in which both autonomic dysregulation with hypoventilation and an enteric neuropathy may occur. The majority of patients with CCHS have a polyalanine repeat mutation (PARM) in PHOX2B, but a minority of patients have nonpolyalanine repeat mutations (NPARMs), some of which have been localized to exon 1. A nonsense mutation previously generated in a human pluripotent stem cell (hPSC) line results in an NH-terminus truncated product missing the first 17 or 20 amino acids, possibly due to translational reinitiation at an alternate ATG start site. Read More

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Semaphorin Regulation by the Chromatin Remodeler CHD7: An Emerging Genetic Interaction Shaping Neural Cells and Neural Crest in Development and Cancer.

Front Cell Dev Biol 2021 1;9:638674. Epub 2021 Apr 1.

Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Milan, Italy.

CHD7 is a chromatin remodeler protein that controls gene expression the formation of multi-protein complexes with specific transcription factors. During development, CHD7 controls several differentiation programs, mainly by acting on neural progenitors and neural crest (NC) cells. Thus, its roles range from the central nervous system to the peripheral nervous system and the organs colonized by NC cells, including the heart. Read More

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A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II.

Int J Pediatr Otorhinolaryngol 2021 Jun 14;145:110711. Epub 2021 Apr 14.

Department of Otolaryngology-Head and Neck Surgery, The First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China; Regional Key Laboratory of Early Prevention and Treatment of High-Rise Tumors, Nanning, 530021, China. Electronic address:

Objective: Waardenburg syndrome type 2 (WS2) is a rare neural-crest disorder, characterized by heterochromic irides or blue eyes and sensorineural hearing loss. The aim of this study was to analyze the clinical features and investigate the genetic cause of WS2 in a small family from Guangxi Zhuang Autonomous region.

Methods: Whole-exome sequencing and mutational analysis were used to identify disease-causing genes in this family. Read More

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Molecular mechanisms of hearing loss in Nager syndrome.

Dev Biol 2021 Aug 14;476:200-208. Epub 2021 Apr 14.

Department of Molecular Pathobiology, New York University, College of Dentistry, New York, USA. Electronic address:

Nager syndrome is a rare human developmental disorder characterized by hypoplastic neural crest-derived craniofacial bones and limb defects. Mutations in SF3B4 gene, which encodes a component of the spliceosome, are a major cause for Nager. A review of the literature indicates that 45% of confirmed cases are also affected by conductive, sensorineural or mixed hearing loss. Read More

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Differential diagnosis of vitamin D-related hypercalcemia using serum vitamin D metabolite profiling.

J Bone Miner Res 2021 Apr 15. Epub 2021 Apr 15.

Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, Canada.

Genetic causes of vitamin D-related hypercalcemia are known to involve mutation of 25-hydroxyvitamin D-24-hydroxylase CYP24A1 or the sodium phosphate co-transporter SLC34A1, which result in excessive 1,25-(OH) D hormonal action. However, at least 20% of idiopathic hypercalcemia (IH) cases remain unresolved. In this case-control study, we used precision vitamin D metabolite profiling based on liquid chromatography-tandem mass spectrometry (LC-MS/MS) of an expanded range of vitamin D metabolites to screen German and French cohorts of hypercalcemia patients, to identify patients with altered vitamin D metabolism where involvement of CYP24A1 or SLC34A1 mutation had been ruled out and who possessed normal 25-OH-D :24,25-(OH) D ratios. Read More

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Imaging of peripheral nerve causes of chronic buttock pain and sciatica.

E Koh

Clin Radiol 2021 Apr 4. Epub 2021 Apr 4.

Envision Medical Imaging, Wembley, Western Australia, Australia; Fiona Stanley Hospital Medical Imaging Department, Murdoch, Western Australia, Australia. Electronic address:

Chronic buttock pain is a common and debilitating symptom, which severely impacts daily activities, sleep, and may affect athletic performance. Lumbar spine, posterior hip, or hamstring pathology are usually considered as the primary diagnoses; however, pelvic neural pathology may be a significant cause of chronic buttock pain, particularly if there are prolonged (>6 months) buttock and/or radicular symptoms. The subgluteal space is the site of most pelvic causes of neural-mediated buttock pain, primarily relating to entrapment neuropathy of the sciatic nerve (deep gluteal syndrome), although other nerves within the subgluteal space including the gluteal nerves, pudendal nerve, and posterior cutaneous nerve of thigh may also be involved. Read More

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Genetic and Cellular Interaction During Cardiovascular Development Implicated in Congenital Heart Diseases.

Front Cardiovasc Med 2021 16;8:653244. Epub 2021 Mar 16.

Division of Pediatric Cardiology, Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Congenital heart disease (CHD) is the most common life-threatening congenital anomaly. CHD occurs due to defects in cardiovascular development, and the majority of CHDs are caused by a multifactorial inheritance mechanism, which refers to the interaction between genetic and environmental factors. During embryogenesis, the cardiovascular system is derived from at least four distinct cell lineages: the first heart field, second heart field, cardiac neural crest, and proepicardial organ. Read More

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Prospective Validation and Comparative Analysis of Coronary Risk Stratification Strategies Among Emergency Department Patients With Chest Pain.

J Am Heart Assoc 2021 Apr 31;10(7):e020082. Epub 2021 Mar 31.

Division of Research Kaiser Permanente Northern California Oakland CA.

Background Coronary risk stratification is recommended for emergency department patients with chest pain. Many protocols are designed as "rule-out" binary classification strategies, while others use graded-risk stratification. The comparative performance of competing approaches at varying levels of risk tolerance has not been widely reported. Read More

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Recurrent ganglioneuroma in PTPN11-associated Noonan syndrome: A case report and literature review.

Am J Med Genet A 2021 06 29;185(6):1883-1887. Epub 2021 Mar 29.

Department of Clinical Genomics, Mayo Clinic, Phoenix, Arizona, USA.

Noonan syndrome (NS) is an autosomal dominant condition with variable expressivity most commonly due to a germline pathogenic variant in PTPN11, which encodes the protein tyrosine phosphatase SHP-2. Gain-of-function variants in PTPN11 are known to promote oncogenic behavior in affected tissues. We report the clinical description of a young adult male presenting with relapsing ganglioneuromas, dysmorphic features, cardiac abnormalities, and multiple lentigines, strongly suspicious for NS. Read More

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RERE deficiency contributes to the development of orofacial clefts in humans and mice.

Hum Mol Genet 2021 May;30(7):595-602

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Deletions of chromosome 1p36 are the most common telomeric deletions in humans and are associated with an increased risk of orofacial clefting. Deletion/phenotype mapping, combined with data from human and mouse studies, suggests the existence of multiple 1p36 genes associated with orofacial clefting including SKI, PRDM16, PAX7 and GRHL3. The arginine-glutamic acid dipeptide (RE) repeats gene (RERE) is located in the proximal critical region for 1p36 deletion syndrome and encodes a nuclear receptor co-regulator. Read More

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The enteric nervous system in gastrointestinal disease etiology.

Cell Mol Life Sci 2021 May 26;78(10):4713-4733. Epub 2021 Mar 26.

Department of Pathology, GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.

A highly conserved but convoluted network of neurons and glial cells, the enteric nervous system (ENS), is positioned along the wall of the gut to coordinate digestive processes and gastrointestinal homeostasis. Because ENS components are in charge of the autonomous regulation of gut function, it is inevitable that their dysfunction is central to the pathophysiology and symptom generation of gastrointestinal disease. While for neurodevelopmental disorders such as Hirschsprung, ENS pathogenesis appears to be clear-cut, the role for impaired ENS activity in the etiology of other gastrointestinal disorders is less established and is often deemed secondary to other insults like intestinal inflammation. Read More

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