Donohue Syndrome

Syndrome

Donohue syndrome

List of pathologists

Elfin facies

Rabson-Mendenhall syndrome

Pointy ears

Genetic causes of type 2 diabetes

Type 2 diabetes

Insulin receptor

Patterson syndrome

Hypoplastic left heart syndrome

Chromosome 19

Leprechaun (disambiguation)

Disulfiram-alcohol reaction

Signs and symptoms

List of syndromes

Donohue

Escherichia coli O157:H7

Latissimus dorsi muscle

List of causes of hypoglycemia

The Sarah Jane Brain Foundation

GnRH neuron

Darius McCollum

La Salle Military Academy

Reperfusion therapy

BACH1

Mood disorder

Fonteyn Kill

Nathan Azrin

Mucus

Alzheimer's Disease Neuroimaging Initiative

Mutations10

• Known mutations to the gene which can cause Donohue syndrome include a nonsense mutation that resulted in early termination of the protein, an addition or deletion mutation that resulted in a frame shift, a single missense mutation and in the milder form mentioned above, a single codon change that altered isoleucine to methionine in the receptor protein. (wikipedia.org)
• Some mutations to the gene instead result in insulin resistant diabetes without Donohue syndrome. (wikipedia.org)
• Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. (eurospe.org)
• Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. (sitoolsbiotech.com)
• Background: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant condition characterized by osteoporosis, acro-osteolysis, short stature and specific craniofacial features and is caused by mutations in the NOTCH2 gene which codes for a single-pass transmembrane protein that plays a critical role in skeletal development and bone remodelling. (eurospe.org)
• Homozygous or compound heterozygous mutations in INSR are usually linked with Rabson-Mendenhall or Donohue syndromes whilst heterozygous INSR mutations are associated with type A insulin resistance. (eurospe.org)
• 2015). Mutations in mitochondrial genes have also been identified in patients with Leigh syndrome: see MTTV (590105), MTTK (590060), MTTW (590095), and MTTL1 (590050). (beds.ac.uk)
• Leigh syndrome may also be caused by mutations in components of the pyruvate dehydrogenase complex (e.g. (beds.ac.uk)
• LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. (jefferson.edu)
• In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1. (jefferson.edu)

Insulin resistan1

• 2007) Regression of acanthosis nigricans correlates with disappearance of anti-insulin receptor autoantibodies and achievement of euglycemia in type B insulin resistance syndrome. (symptoma.com)

Abnormalities4

• Introduction: Coffin-Siris Syndrome (CSS) is a rare multisystem genetic disorder which arises from genetic abnormalities within genes encoding for the SWI/SNF complex (ARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCA2, SMARCE1). (eurospe.org)
• Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. (beds.ac.uk)
• Biochemical studies in patients with Leigh syndrome tend to show increased lactate and abnormalities of mitochondrial oxidative phosphorylation (summary by Lake et al. (beds.ac.uk)
• It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (nih.gov)

Leprechaunism1

• Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder. (wikipedia.org)

Partial lipodystrophy1

• Caramaschi P, Biasi D, Lestani M, Chilosi M. A case of acquired partial lipodystrophy associated with POEMS syndrome. (medscape.com)

Diseases1

• In 2009, the Technical Advisory Group on Immunization and Vaccine Preventable Diseases (TAG) in the Western Pacific Region (WPR) endorsed the 2015 targets for accelerating control of rubella and preventing congenital rubella syndrome (CRS). (who.int)

Severe insulin1

• Rituximab therapy for the type B syndrome of severe insulin resistance. (symptoma.com)

Diabetes2

• In 1956, S. M. Rabson and E. N. Mendenhall described this familial syndrome comprising insulin-resistant diabetes, pineal hyperplasia, and various somatic anomalies. (mhmedical.com)
• Obesity, heart disease metabolic syndrome and diabetes are our new norm, and it is NOT ok with me. (prdnewswire.com)

Metabolic syndrome3

• Arthritis Rheum 57: 109-115,2007 ［YM 追加］ 13） Vazquez-Mellado J, Garcia CG, Vazquez SG, et al: Metabolic syndrome and ischemic heart disease in gout. (symptoma.com)
• Dr. Lombo's special interests include portable echocardiography technology, transcatheter aortic valve replacement (TAVR), metabolic syndrome, hypertension, and the development of online platforms that provide free access to educational materials for the medical community. (yalemedicine.org)
• High plasma levels of insulin and glucose due to insulin resistance are a major component of the metabolic syndrome . (thediabeticpharmacist.com)

Disorder7

• Donohue syndrome is an autosomal recessive genetic disorder. (wikipedia.org)
• Brugada syndrome is a disorder characterized by sudden death associated with one of several ECG patterns characterized by incomplete right bundle-branch block and ST-segment elevations in the anterior precordial leads. (medscape.com)
• Down Syndrome Education International summarizes educational research on children with Down syndrome and autism or an autistic spectrum disorder. (nads.org)
• Introduction: Bardet-Biedl syndrome (BBS) is a rare, pleiotropic, autosomal recessive disorder, with prevalence between 1 in 100,000 160,000 in Europe and the USA. (eurospe.org)
• A patient with posterior alien hand syndrome of vascular aetiology is reported and the findings are discussed in the light of a conceptualisation of posterior alien hand syndrome as a disorder which may be less associated with specific focal neuropathology than are its callosal and callosal-frontal counterparts. (bmj.com)
• Introduction: Beckwith-Wiedemann syndrome (BWS) is a multisystem imprinting disorder. (eurospe.org)
• Leigh syndrome is a clinically and genetically heterogeneous disorder resulting from defective mitochondrial energy generation. (beds.ac.uk)

Lesions5

• The alien hand syndrome, as originally defined, was used to describe cases involving anterior corpus callosal lesions producing involuntary movement and a concomitant inability to distinguish the affected hand from an examiner's hand when these were placed in the patient's unaffected hand. (bmj.com)
• Three varieties of alien hand syndrome have been reported, involving lesions of the corpus callosum alone, the corpus callosum plus dominant medial frontal cortex, and posterior cortical/subcortical areas. (bmj.com)
• Two frontal varieties of alien hand syndrome have been described-one associated with lesions of the language dominant medial frontal cortex and the anterior corpus callosum affecting the dominant hand and the other with of the corpus callosum alone affecting the non-dominant hand. (bmj.com)
• 7 In the second case, the infrequency of non-dominant hand callosal-frontal alien hand syndrome would be attributable to hypokinesia, which often follows non-dominant medial frontal lesions, and which would tend to negate any released exploratory drive. (bmj.com)
• 8 A few cases of alien hand syndrome have been reported after posterior lesions 9-13 resulting either from corticobasal degeneration involving primarily posterior cortical degeneration or from cerebrovascular accidents. (bmj.com)

Deficiency2

• Deficiency of coenzyme Q10 (607426) can present as Leigh syndrome. (beds.ac.uk)
• Some forms of combined oxidative phosphorylation deficiency can present as Leigh syndrome (see, e.g., 617664). (beds.ac.uk)

Acute1

• Objective: Children are usually mildly affected by Severe Acute Respiratory Syndrome Coronavirus 2 infection (SARS-CoV-2, COVID-19). (eurospe.org)

Chromosome1

• What was previously thought as the best mouse model of Down syndrome has traits derived from genes that are not relevant to human chromosome 21. (nih.gov)

Corpus callosum1

• 1 2 Although such early reports suggested considerable neuropathological specificity (a lesion of the anterior corpus callosum), a reliable anatomically derived definition of alien hand syndrome has been elusive. (bmj.com)

Alien hand syn4

• Alien hand syndrome is a loosely defined cluster of symptoms characterised by involuntary movement of an upper limb in conjunction with the experience of estrangement from or personification of the movements of the limb itself. (bmj.com)
• Alien hand syndrome was initially used to describe cases involving a disconnection of the hemispheres via corpus callosal lesion. (bmj.com)
• 3 More recent acceptable usage of the term alien hand syndrome requires only the "feeling that one limb is foreign or "has a will of its own," together with (emphasis in original) observable involuntary motor activity. (bmj.com)
• 12 13 We present a case of the second, posterior variety of alien hand syndrome and discuss considerations regarding its aetiology and differences from the two anterior varieties. (bmj.com)

Diagnosis2

• The NADS group, Down Syndrome and More , serves families whose child with Down syndrome has an additional diagnosis, such as Autism or ADHD. (nads.org)
• For more information about Down syndrome and Autism, including signs and symptoms, obtaining an evaluation for autism, and related behaviors, see the dual-diagnosis section on the website of the National Down Syndrome Society. (nads.org)

Cardiac3

• To date, the only treatment that has proven effective in treating ventricular tachycardia and fibrillation and preventing sudden death in patients with Brugada syndrome is implantation of an automatic implantable cardiac defibrillator (ICD). (medscape.com)
• Leigh syndrome can also have detrimental multisystemic affects on the cardiac, hepatic, gastrointestinal, and renal organs. (beds.ac.uk)
• Cardiac transplantation in children with Noonan syndrome. (jefferson.edu)

Clinical4

• Individuals with DS or trisomy 21 develop a clinical syndrome of dementia with clinical and neuropathologic characteristics almost identical to those of AD as described in individuals without DS. (medscape.com)
• A mouse model that more precisely captures the genetics of Down syndrome has important implications for human clinical trials that aim to improve cognition," said Diana W. Bianchi, M.D., director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, senior investigator in the National Human Genome Research Institute (NHGRI) Center for Precision Health Research and senior author of the study. (nih.gov)
• The possibility of treating intellectual disabilities in the context of Down syndrome goes to the core of changing conceptions about the nature of disability, its medical and clinical aspects, and what we, often pejoratively, consider 'normal' and 'desirable' in the context of medical care and in society," underscores Christopher R. Donohue, Ph.D., NHGRI senior historian. (nih.gov)
• Pulmonologists are learning how they can help direct treatment for asthma patients, but with this additional clinical research we are demonstrating that because of overlap disease it can also help for care of their patients with COPD who may have an asthma component (Overlap Syndrome). (technologynetworks.com)

Abnormality2

• Introduction: Turner s syndrome (TS) is caused by an abnormality of one of the X chromosomes. (eurospe.org)
• The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. (jefferson.edu)

Multisystem1

• Risk Factors for Multisystem Inflammatory Syndrome in Children: A Case-Control Investigation. (cdc.gov)

Overlap3

• Asthma can coexist with chronic obstructive pulmonary disease (COPD), particularly in older adults, a condition labeled overlap syndrome. (technologynetworks.com)
• The single-visit, outpatient study was conducted in 97 subjects age 40 and older with COPD or overlap syndrome. (technologynetworks.com)
• The resulting data may have important implications for the management of COPD patients who may have Overlap Syndrome. (technologynetworks.com)

Vascular1

• After covering vascular thoracic outlet syndrome a few weeks ago, we will move on to cover neurogenic thoracic outlet syndrome. (sportsmedreview.com)

Females1

• Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). (jefferson.edu)

Disease3

• Although Alzheimer disease (AD) is more frequent in individuals with Down syndrome (DS), the main contributing factor is unknown. (medscape.com)
• I worked with a wonderful young woman who came to me in the middle of her recovery of an autoimmune disease called Guillain-Barré Syndrome, which is often referred to as (GBS). (jerilawsonhealingtouch.com)
• Shiga toxin-producing Escherichia coli (STEC) is a group of enteric pathogens that cause foodborne disease ranging from uncomplicated diarrhea to hemorrhagic colitis (HC) or hemolytic uremic syndrome (HUS) ( 1 ). (cdc.gov)

Implications1

• Syndromes: Rapid Recognition and Perioperative Implications, 2e Bissonnette B, Luginbuehl I, Engelhardt T. Bissonnette B, & Luginbuehl I, & Engelhardt T(Eds. (mhmedical.com)

Abstract1

• The abstract was presented by Dr. James F. Donohue, principle investigator for the study at (American Thoracic Society meeting in Philadelphia) on (Sunday May 19, 2013). (technologynetworks.com)

Genes2

• Importantly, the previous mouse model's genome contains 45 extra genes that are irrelevant to human Down syndrome, a byproduct of how the model was developed. (nih.gov)
• To create an enhanced mouse model of Down syndrome, researchers at the University of Strasbourg, France, removed these extra 45 genes using CRISPR gene-editing technology. (nih.gov)

Developmental1

• In addition, variable developmental problems and schizoid features are also associated with this syndrome. (nih.gov)

Features1

• Facial features indicative of Donohue syndrome include protuberant and low-set ears, flaring nostrils, unusually large mouth, thick lips, and widely spaced eyes. (wikipedia.org)

Patients2

• Most patients with Brugada syndrome have a normal physical examination. (medscape.com)
• For example, quinidine, which blocks the calcium-independent transient outward potassium current (Ito), has been shown to normalize the ECG pattern in patients with Brugada syndrome. (medscape.com)

Disability1

• As cognitive treatments based on genetic models become more feasible in the future, researchers, in conversation with disability ethicists, those with Down syndrome and other healthcare professionals, should carefully weigh potential benefits versus drawbacks, including contributing to ableism in medicine, and other forms of stigma. (nih.gov)

Depression1

• 2008) An IgM-mediated immune response directed against nitro-bovine serum albumin (nitro-BSA) in chronic fatigue syndrome (CFS) and major depression: evidence that nitrosative stress is another factor underpinning the comorbidity between major depression and CFS. (andochiro.com)

Society1

• The National Down Syndrome Society provides an overview of Down syndrome and autism. (nads.org)

Years2

• Almost all adultswith Down syndrome (DS) develop neuropathological AD changes by 40 years of age. (medscape.com)
• A previous mouse model, known as Ts65Dn, has been considered the standard for Down syndrome research, used in preclinical studies for nearly 30 years. (nih.gov)

Humans2

• National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be more similar to the changes seen in humans. (nih.gov)
• Coronaviruses (CoVs) were previously known to be present in the environment and to infect humans, for example SARS-CoV and Middle East respiratory syndrome coronavirus (MERS-CoV) have appeared in the past two decades. (biomedcentral.com)

Case1

• Martin N, Durrheim D, Khandaker G, Butler M, Jones C. Using the two-source capture-recapture method to estimate the incidence and case ascertainment of congenital rubella syndrome in Australia, 1993-2013. (who.int)