External links [ edit ] Classification D ICD - 10 : G56.3 ICD - 9-CM : 354.3 MeSH : D020425 External resources eMedicine : neuro/587 Scholia has a topic profile for Radial neuropathy . v t e Diseases relating to the peripheral nervous system Mononeuropathy Arm median nerve Carpal tunnel syndrome Ape hand deformity ulnar nerve Ulnar nerve entrapment Froment's sign Ulnar tunnel syndrome Ulnar claw radial nerve Radial neuropathy Wrist drop Cheiralgia paresthetica long thoracic nerve Winged scapula Backpack palsy Leg lateral cutaneous nerve of thigh Meralgia paraesthetica tibial nerve Tarsal tunnel syndrome plantar nerve Morton's neuroma superior gluteal nerve Trendelenburg's sign sciatic nerve Piriformis syndrome Cranial nerves See Template:Cranial nerve disease Polyneuropathy and Polyradiculoneuropathy HMSN Charcot–Marie–Tooth disease Dejerine–Sottas disease Refsum's disease Hereditary spastic paraplegia Hereditary neuropathy with liability to pressure palsy Familial amyloid neuropathy Autoimmune and demyelinating disease Guillain–Barré syndrome Chronic inflammatory demyelinating polyneuropathy Radiculopathy and plexopathy Brachial plexus injury Thoracic outlet syndrome Phantom limb Other Alcoholic polyneuropathy Other General Complex regional pain syndrome Mononeuritis multiplex Peripheral neuropathy Neuralgia Nerve compression syndrome v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline
Genetic conditions. If you have Marfan syndrome or a related condition, such as Loeys-Dietz syndrome or vascular Ehlers-Danlos syndrome, you have a significantly higher risk of a thoracic aortic aneurysm. ... They may reduce how fast the aorta is widening in people with Marfan syndrome. Angiotensin 2 receptor blockers. ... They are often recommended for people who have Loeys-Dietz syndrome even if they don't have high blood pressure. ... Aortic aneurysms near the aortic root may be related to Marfan syndrome and other related conditions. A surgeon removes part of the aorta and sometimes the aortic valve. ... Do you have a family history of aneurysms or genetic diseases, such as Marfan syndrome? Have you ever smoked? Have you ever been told you have high blood pressure?
It may be associated with Trisomy 18, also known as Edwards syndrome . [5] Intrauterine growth restriction has been found to be associated. ... categoryid=54&subcategoryid=128 ^ Cereda, Anna; Carey, John C (2012). "The trisomy 18 syndrome" . Orphanet Journal of Rare Diseases . 7 (1): 81. doi : 10.1186/1750-1172-7-81 . ... External links [ edit ] Classification D ICD - 10 : P02.6 , Q27.0 ICD - 9-CM : 747.5 MeSH : D058529 DiseasesDB : 34592 v t e Conditions originating in the perinatal period / fetal disease Maternal factors complicating pregnancy, labour or delivery placenta Placenta praevia Placental insufficiency Twin-to-twin transfusion syndrome chorion / amnion Chorioamnionitis umbilical cord Umbilical cord prolapse Nuchal cord Single umbilical artery presentation Breech birth Asynclitism Shoulder presentation Growth Small for gestational age / Large for gestational age Preterm birth / Postterm pregnancy Intrauterine growth restriction Birth trauma scalp Cephalohematoma Chignon Caput succedaneum Subgaleal hemorrhage Brachial plexus injury Erb's palsy Klumpke paralysis Affected systems Respiratory Intrauterine hypoxia Infant respiratory distress syndrome Transient tachypnea of the newborn Meconium aspiration syndrome Pleural disease Pneumothorax Pneumomediastinum Wilson–Mikity syndrome Bronchopulmonary dysplasia Cardiovascular Pneumopericardium Persistent fetal circulation Bleeding and hematologic disease Vitamin K deficiency bleeding HDN ABO Anti-Kell Rh c Rh D Rh E Hydrops fetalis Hyperbilirubinemia Kernicterus Neonatal jaundice Velamentous cord insertion Intraventricular hemorrhage Germinal matrix hemorrhage Anemia of prematurity Gastrointestinal Ileus Necrotizing enterocolitis Meconium peritonitis Integument and thermoregulation Erythema toxicum Sclerema neonatorum Nervous system Perinatal asphyxia Periventricular leukomalacia Musculoskeletal Gray baby syndrome muscle tone Congenital hypertonia Congenital hypotonia Infections Vertically transmitted infection Neonatal infection rubella herpes simplex mycoplasma hominis ureaplasma urealyticum Omphalitis Neonatal sepsis Group B streptococcal infection Neonatal conjunctivitis Other Miscarriage Perinatal mortality Stillbirth Infant mortality Neonatal withdrawal v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline v t e Congenital vascular defects / Vascular malformation Great arteries / other arteries Aorta Patent ductus arteriosus Coarctation of the aorta Interrupted aortic arch Double aortic arch Right-sided aortic arch Overriding aorta Aneurysm of sinus of Valsalva Vascular ring Pulmonary artery Pulmonary atresia Stenosis of pulmonary artery Subclavian artery Aberrant subclavian artery Umbilical artery Single umbilical artery Great veins Superior / inferior vena cava Congenital stenosis of vena cava Persistent left superior vena cava Pulmonary vein Anomalous pulmonary venous connection ( Total , Partial ) Scimitar syndrome Arteriovenous malformation Cerebral arteriovenous malformation
A number sign (#) is used with this entry because X-linked lissencephaly with ambiguous genitalia (LISX2, XLAG), as well as hydranencephaly and abnormal genitalia, can be caused by mutation in the ARX gene (300382). See also Proud syndrome (300004), an allelic disorder with an overlapping phenotype. ... LISX2 is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from hydranencephaly and lissencephaly to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008). ... Therefore, Dobyns et al. (1999) proposed that this disorder comprises a novel X-linked malformation syndrome, which they referred to as X-linked lissencephaly with ambiguous genitalia. ... Most of the patients had XLAG, but 2 had hydranencephaly and abnormal genitalia (see, e.g., 300382.0016) and 3 males from 1 family had Proud syndrome (300382.0015). Two of the families had been reported by Bonneau et al. (2002), and were found to have the same mutation (E78X; 300382.0020). Genotype/Phenotype Correlations In a review of 29 males with ARX mutations, Kato et al. (2004) found that those with premature termination or nonsense mutations had brain malformation syndromes, including XLAG and Proud syndrome, whereas those with expansion of the polyalanine tract (300382.0001 and 300382.0002) had epileptic encephalopathy (308350) or mental retardation (309510; 300419) without brain malformations.
Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). ... The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome; see this term), autistic features and nonsyndromicintellectual deficit.
X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males. XLAG is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. Individuals without any folds in the brain (agyria) typically have more severe symptoms than people with reduced folds and grooves (pachygyria). Individuals with XLAG may also have a lack of development (agenesis) of the tissue connecting the left and right halves of the brain (corpus callosum). The brain abnormalities can cause severe intellectual disability and developmental delay, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties.
PMID 22275846 . ^ a b c d Pichichero ME (2009). "The PANDAS syndrome" . Hot Topics in Infection and Immunity in Children V . ... PMID 21378617 . ^ a b c Singer HS (2011). "Tourette syndrome and other tic disorders". Hyperkinetic Movement Disorders . ... PMID 19339765 . ^ a b c d e f Lombroso PJ, Scahill L (2008). "Tourette syndrome and obsessive–compulsive disorder" . ... "Contemporary assessment and pharmacotherapy of Tourette syndrome" . NeuroRx . 3 (2): 192–206. doi : 10.1016/j.nurx.2006.01.009 . ... PMID 19246689 . ^ a b Swerdlow NR (September 2005). "Tourette syndrome: current controversies and the battlefield landscape" .
PANDAS is a subtype of pediatric acute-onset neuropsychiatric syndrome (PANS) . Signs and symptoms of PANDAS align with current guidelines for diagnosing PANDAS, and include: The presence of obsessive-compulsive disorder (OCD) and/or tics (uncontrolled, sudden, repetitive movements or sounds), which are severe enough to interfere the ability to function.
PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders. Epidemiology The prevalence is unknown but the boy-to-girl ratio is 2.6:1. Clinical description The current diagnostic criteria for the PANDAS are: presence of OCD and/or a tic disorder, very young age at onset (prepubertal), sudden and dramatic onset of symptoms, association between streptococcal infections and episodic relapsing-remitting exacerbations manifesting as neuropsychiatric symptoms (motor hyperactivity or adventitious movements including choreiform movements or tics). The increased severity of symptoms usually persists for at least several weeks, but may last for several months or longer, followed by a slow, gradual improvement. The major distinctive feature of PANDAS is the temporal association between neuropsychiatric symptom exacerbations and streptococcal infections.
Idiopathic ventricular fibrillation occurs with a reputed incidence of approximately 1% of all cases of out-of-hospital arrest, as well as 3–9% of the cases of ventricular fibrillation unrelated to myocardial infarction , and 14% of all ventricular fibrillation resuscitations in patients under the age of 40. [8] It follows then that, on the basis of the fact that ventricular fibrillation itself is common, idiopathic ventricular fibrillation accounts for an appreciable mortality. Recently described syndromes such as the Brugada Syndrome may give clues to the underlying mechanism of ventricular arrhythmias. In the Brugada syndrome, changes may be found in the resting ECG with evidence of right bundle branch block (RBBB) and ST elevation in the chest leads V1-V3, with an underlying propensity to sudden cardiac death. [9] The relevance of this is that theories of the underlying pathophysiology and electrophysiology must account for the occurrence of fibrillation in the apparent "healthy" heart. ... In certain forms of long QT syndrome, the potassium inward rectifier channel is affected. ... "Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report". J. Am. ... PMID 6344674 . ^ Hoffa M et al. 1850 ^ Vulpian A 1874 ^ MacWilliam JA 1887 ^ Hoffman A 1912 ^ Kerr, WJ et al. 1922 ^ De Boer S 1923 ^ Katz LN 1928 ^ Wiggers, CJ et al. 1940 External links [ edit ] Classification D ICD - 10 : I49.0 ICD - 10-CM : I49.01 ICD - 9-CM : 427.41 MeSH : D014693 DiseasesDB : 13798 External resources MedlinePlus : 007200 Patient UK : Ventricular fibrillation Interactive models and information on ventricular fibrillation and other arrhythmias v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever
Overview Ventricular fibrillation is a type of irregular heart rhythm (arrhythmia). During ventricular fibrillation, the lower heart chambers contract in a very rapid and uncoordinated manner. As a result, the heart doesn't pump blood to the rest of the body. Ventricular fibrillation is an emergency that requires immediate medical attention. It's the most frequent cause of sudden cardiac death. Emergency treatment for ventricular fibrillation includes cardiopulmonary resuscitation (CPR) and shocks to the heart with a device called an automated external defibrillator (AED). Medications, implanted devices or surgery may be recommended to prevent episodes of ventricular fibrillation.
A number sign (#) is used with this entry because of evidence that Turnpenny-Fry syndrome (TPFS) is caused by heterozygous mutation in the PCGF2 gene (600346) on chromosome 17q12. Description Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. ... In 9 unrelated children with Turnpenny-Fry syndrome, Turnpenny et al. (2018) identified heterozygosity for the P65L mutation in the PCGF2 gene.
The liver is affected in a minority of patients and shows hepatomegaly, edema, ascites, cholestatic jaundice, portal hypertension, and Budd-Chiari syndrome (summary by Marques-da-Silva et al., 2017). ... One of the patients had nephrotic syndrome and a severe decrease of B cells with a complete absence of serum immunoglobulin G (IgG). ... Harshman et al. (2016) reported a patient with congenital nephrotic syndrome and CDG Ik confirmed by genetic analysis. ... The patient also had hypoalbuminemia, proteinuria, and microscopic hematuria, and a renal biopsy performed because of progressive renal dysfunction was suggestive of congenital nephrotic syndrome. He had progressive neurologic deterioration, with seizures that were refractory to multiple antiepileptic medications. ... In a patient with CDG Ik and nephrotic syndrome, Harshman et al. (2016) identified homozygosity for the previously identified S258L mutation in the ALG1 gene (605907.0001).
ALG1 -congenital disorder of glycosylation ( ALG1 -CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems. Individuals with ALG1 -CDG often have intellectual disability, delayed development, and weak muscle tone (hypotonia). Many affected individuals develop seizures that can be difficult to treat. Individuals with ALG1 -CDG may also have movement problems such as involuntary rhythmic shaking (tremor) or difficulties with movement and balance (ataxia). People with ALG1 -CDG often have problems with blood clotting , which can lead to abnormal clotting or bleeding episodes.
Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency.
Differential diagnosis [ edit ] Pulmonary veno-occlusive disease Associations [ edit ] This condition has been reported in patients with Ehlers Danlos syndrome , [7] CREST syndrome [8] and scimitar syndrome . [9] Treatment [ edit ] The only definitive treatment for this condition currently is lung transplantation . ... Chest 151(4):821-828 ^ Park MA, Shin SY, Kim YJ, Park MJ, Lee SH (2017) Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report.Medicine (Baltimore) 96(47):e8853 ^ Diao XL, Mu XD, Jin ML (2017) Pulmonary capillary hemangiomatosis associated with CREST syndrome: A challenge of diagnosis and treatment. Chin Med J (Engl) 130(21):2645-2646 ^ Güttinger E, Vrugt B, Speich R, Ulrich S, Schwitz F, Arrigo M, Huber LC (2016) Reactive pulmonary capillary hemangiomatosis and pulmonary veno-acclusive disease in a patient with repaired scimitar syndrome. Case Rep Cardiol 2016:9384126 ^ Ma L, Bao R (2015) Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis.
A number sign (#) is used with this entry because pulmonary venoocclusive disease-2 (PVOD2) is caused by homozygous or compound heterozygous mutation in the EIF2AK4 gene (609280) on chromosome 15q15. Description Pulmonary venoocclusive disease-2 is an autosomal recessive subtype of primary pulmonary hypertension (PPH; see 178600). It is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. The disorder can cause occult alveolar hemorrhage. High-resolution CT imaging of the chest shows patchy centrilobular ground-glass opacities, septal lines, and lymph node enlargement (summary by Eyries et al., 2014). For a discussion of genetic heterogeneity of pulmonary venoocclusive disease, see PVOD1 (265450).
The physical and psychological symptoms of the disease are very severe, including a propensity to develop post traumatic stress syndrome . [3] Strict definitions of chronic critical illness vary. ... It is estimated that 5-10% of patients who require mechanical ventilation as part of their initial illness will go on to develop chronic critical illness. [2] Overall prevalence has been estimated at 34.4 per 100 000 of the population. [4] Most adult patients do not survive chronic critical illness, and furthermore even those who are discharged from hospital frequently die soon after discharge. [3] One-year mortality in adults is 48-68%. [2] However, children fare better with two-thirds surviving to 5 years or beyond. [5] See also [ edit ] Post-intensive care syndrome References [ edit ] ^ Girard K, Raffin TA. ... PMID 25962079 v t e Intensive care medicine Health science Medicine Medical specialities Respiratory therapy General terms Intensive care unit (ICU) Neonatal intensive care unit (NICU) Pediatric intensive care unit (PICU) Coronary care unit (CCU) Critical illness insurance Conditions Organ system failure Shock sequence SIRS Sepsis Severe sepsis Septic shock Multiple organ dysfunction syndrome Other shock Cardiogenic shock Distributive shock Anaphylaxis Obstructive shock Neurogenic shock Spinal shock Vasodilatory shock Organ failure Acute renal failure Acute respiratory distress syndrome Acute liver failure Respiratory failure Multiple organ dysfunction syndrome Neonatal infection Polytrauma Coma Complications Critical illness polyneuropathy / myopathy Critical illness–related corticosteroid insufficiency Decubitus ulcers Fungemia Stress hyperglycemia Stress ulcer Iatrogenesis Methicillin-resistant Staphylococcus aureus Oxygen toxicity Refeeding syndrome Ventilator-associated lung injury Ventilator-associated pneumonia Dialytrauma Diagnosis Arterial blood gas Catheter Arterial line Central venous catheter Pulmonary artery catheter Blood cultures Screening cultures Life-supporting treatments Airway management Chest tube Dialysis Enteral feeding Goal-directed therapy Induced coma Mechanical ventilation Therapeutic hypothermia Total parenteral nutrition Tracheal intubation Drugs Analgesics Antibiotics Antithrombotics Inotropes Intravenous fluids Neuromuscular-blocking drugs Recombinant activated protein C Sedatives Stress ulcer prevention drugs Vasopressors ICU scoring systems APACHE II Glasgow Coma Scale PIM2 SAPS II SAPS III SOFA Physiology Hemodynamics Hypotension Level of consciousness Acid–base imbalance Water-electrolyte imbalance Organisations Society of Critical Care Medicine Surviving Sepsis Campaign European Society of Paediatric and Neonatal Intensive Care Related specialties Anesthesiology Cardiology Internal medicine Neurology Pediatrics Pulmonology Surgery Traumatology v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline Medicine portal
In some families, endometrial cancer is associated with colorectal cancer in the same individual or individuals with hereditary nonpolyposis colorectal cancer type 1 (HNPCC1) or HNPCC2, also known as Lynch syndrome (120435). 'Lynch syndrome II' refers to extracolonic cancers, including endometrial cancers. ... Barnetson et al. (2007) noted that the phenotype associated with biallelic MUTYH mutations may include extracolonic manifestations, including endometrial cancer and sebaceous carcinoma, as seen in other inherited colorectal cancer syndromes such as Muir-Torre syndrome (158320) and Lynch syndrome (120435). ... INHERITANCE - Somatic mutation - Autosomal dominant NEOPLASIA - Endometrial cancer MISCELLANEOUS - Often seen in cancer predisposition syndromes such as hereditary nonpolyposis colorectal cancer (see 614350 and 604395 ) MOLECULAR BASIS - Caused by somatic mutation in the mutS homolog 3 gene (MSH3, 600887.0001 ) - Caused by somatic mutation in the mutS homolog 6 gene (MSH6, 600678.0005 ) - Susceptibility conferred by mutation in the DNA mismatch repair protein MLH3 gene (MLH3, 604395.0006 ) - Caused by somatic mutation in the cadherin 1 gene (CDH1, 192090.0001 ) ▲ Close
Some patients with GMPPB mutations may show features consistent with a congenital myasthenic syndrome (see, e.g., CMS1A; 601462), such as fatigability and decremental compound muscle action potential response to repetitive nerve stimulation; these patients may show a positive therapeutic response to treatment with pyridostigmine (Belaya et al., 2015). ... Clinical Variability Belaya et al. (2015) reported 7 patients from 5 unrelated families who were diagnosed with a muscle disorder consistent with a congenital myasthenic syndrome. The patients presented in adolescence or adulthood with proximal muscle weakness causing decreased walking tolerance and inability to run and lift weights. ... The patients had increased serum creatine kinase, which Belaya et al. (2015) noted was an unusual finding for a congenital myasthenic syndrome. None had cognitive impairment. ... In 7 patients from 5 unrelated families with MDDGC14 with features of congenital myasthenic syndrome, Belaya et al. (2015) identified homozygous or compound heterozygous mutations in the GMPPB gene (see, e.g., 615320.0007; 615320.0009-615320.0011). The mutations in the first patient were found by whole-exome sequencing; mutations in subsequent patients were found by screening of the GMPPB gene in a cohort of patients diagnosed with congenital myasthenic syndrome. The patients with GMPPB mutations showed decrement of compound muscle action potentials on repetitive nerve stimulation as well as myopathic findings on muscle biopsy and increased serum creating kinase.
A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.
Epileptic myoclonus is an elementary electroclinical manifestation of epilepsy involving descending neurons, whose spatial (spread) or temporal (self-sustained repetition) amplification can trigger overt epileptic activity. [1] Diagnosis [ edit ] There are two syndromes and several related disorders. ... These symptoms often worsen over time and can be fatal. [3] MERRF syndrome is also known as myoclonic epilepsy with ragged-red fibers. This rare inherited disorder affects muscles cells. [4] Features of MERRF, along with myoclonus epilepsy seizures, include ataxia , peripheral neuropathy , and dementia . [4] Lafora disease is also known as Lafora progressive myoclonus epilepsy, which is an autosomal recessive inherited disorder involving recurrent seizures and degradation of mental capabilities. [5] Lafora disease usually occurs in late childhood and usually leads to death around 10 years after first signs of the disease. [5] Unverricht-Lundborg disease is an autosomal recessive inherited disorder seen in individuals as young as six years. [6] It is associated with possible loss of consciousness, rigidity, ataxia, dysarthria , declination of mental functioning, and involuntary shaking. [6] Neuronal ceroid lipofuscinosis is a group of diseases that cause blindness, loss of mental abilities, and loss of movement. [7] All diseases in this group are lysosomal-storage disorders that also lead to death roughly ten years after onset of the disease. [7] Related disorders [ edit ] Lennox–Gastaut syndrome is often associated with intellectual deficits as well as a lack of response to anti-epileptic drugs . [8] It usually begins in the first years of life. [8] Reticular reflex myoclonus is a generalized form of epilepsy originating from the brain stem. ... GeneReviews. ^ a b Niedermeyer, Ernst (1992). "Epileptic Syndromes: A Remarkable Contribution of EEG to Epileptology". ... External links [ edit ] Classification D MeSH : D004831 v t e Diseases of the nervous system , primarily CNS Inflammation Brain Encephalitis Viral encephalitis Herpesviral encephalitis Limbic encephalitis Encephalitis lethargica Cavernous sinus thrombosis Brain abscess Amoebic Brain and spinal cord Encephalomyelitis Acute disseminated Meningitis Meningoencephalitis Brain / encephalopathy Degenerative Extrapyramidal and movement disorders Basal ganglia disease Parkinsonism PD Postencephalitic NMS PKAN Tauopathy PSP Striatonigral degeneration Hemiballismus HD OA Dyskinesia Dystonia Status dystonicus Spasmodic torticollis Meige's Blepharospasm Athetosis Chorea Choreoathetosis Myoclonus Myoclonic epilepsy Akathisia Tremor Essential tremor Intention tremor Restless legs Stiff-person Dementia Tauopathy Alzheimer's Early-onset Primary progressive aphasia Frontotemporal dementia / Frontotemporal lobar degeneration Pick's Dementia with Lewy bodies Posterior cortical atrophy Vascular dementia Mitochondrial disease Leigh syndrome Demyelinating Autoimmune Inflammatory Multiple sclerosis For more detailed coverage, see Template:Demyelinating diseases of CNS Episodic/ paroxysmal Seizures and epilepsy Focal Generalised Status epilepticus For more detailed coverage, see Template:Epilepsy Headache Migraine Cluster Tension For more detailed coverage, see Template:Headache Cerebrovascular TIA Stroke For more detailed coverage, see Template:Cerebrovascular diseases Other Sleep disorders For more detailed coverage, see Template:Sleep CSF Intracranial hypertension Hydrocephalus Normal pressure hydrocephalus Choroid plexus papilloma Idiopathic intracranial hypertension Cerebral edema Intracranial hypotension Other Brain herniation Reye syndrome Hepatic encephalopathy Toxic encephalopathy Hashimoto's encephalopathy Both/either Degenerative SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal hereditary motor neuronopathies Spinal muscular atrophies SMA SMAX1 SMAX2 DSMA1 Congenital DSMA Spinal muscular atrophy with lower extremity predominance (SMALED) SMALED1 SMALED2A SMALED2B SMA-PCH SMA-PME Progressive muscular atrophy Progressive bulbar palsy Fazio–Londe Infantile progressive bulbar palsy both: Amyotrophic lateral sclerosis
Worsening of neurologic symptoms in multiple sclerosis Uhthoff's phenomenon Specialty Neurology Differential diagnosis degeneration of condition of Multiple sclerosis Uhthoff's phenomenon (also known as Uhthoff's syndrome , Uhthoff's sign , and Uhthoff's symptom ) is the worsening of neurologic symptoms in multiple sclerosis (MS) and other neurological, demyelinating conditions when the body gets overheated from hot weather , exercise , fever , or saunas and hot tubs . ... S2CID 12555514 . v t e Multiple sclerosis and other demyelinating diseases of the central nervous system Signs and symptoms Ataxia Depression Diplopia Dysarthria Dysphagia Fatigue Incontinence Nystagmus Optic neuritis Pain Uhthoff's phenomenon Investigations and diagnosis Multiple sclerosis diagnosis McDonald criteria Poser criteria Clinical Clinically isolated syndrome Expanded Disability Status Scale Serological and CSF Oligoclonal bands Radiological Radiologically isolated syndrome Lesional demyelinations of the central nervous system Dawson's fingers Approved [ by whom? ] treatment Management of multiple sclerosis Alemtuzumab Cladribine Dimethyl fumarate Fingolimod Glatiramer acetate Interferon beta-1a Interferon beta-1b Mitoxantrone Natalizumab Ocrelizumab Ozanimod Siponimod Teriflunomide Other treatments Former Daclizumab Multiple sclerosis research Demyleinating diseases Autoimmune Multiple sclerosis Neuromyelitis optica Diffuse myelinoclastic sclerosis Inflammatory Acute disseminated encephalomyelitis MOG antibody disease Balo concentric sclerosis Marburg acute multiple sclerosis Neuromyelitis optica Diffuse myelinoclastic sclerosis Tumefactive multiple sclerosis Experimental autoimmune encephalomyelitis Hereditary Adrenoleukodystrophy Alexander disease Canavan disease Krabbe disease Metachromatic leukodystrophy Pelizaeus–Merzbacher disease Leukoencephalopathy with vanishing white matter Megalencephalic leukoencephalopathy with subcortical cysts CAMFAK syndrome Other Central pontine myelinolysis Marchiafava–Bignami disease Mitochondrial DNA depletion syndrome Other List of multiple sclerosis organizations List of people with multiple sclerosis Multiple sclerosis drug pipeline Pathophysiology v t e Symptoms and signs relating to the nervous system Neurological examination · Cranial nerve examination Central nervous system Head Battle's sign Kernig's sign Macewen's sign Myerson's sign Stroop test Hirano body Other increased intracranial pressure Cushing's triad Lhermitte's sign Charcot's neurologic triad Peripheral nervous system Reflexes Combination Jendrassik maneuver Legs Plantar reflex Chaddock reflex Oppenheim's sign Westphal's sign Arms Hoffmann's sign Other Arms Froment's sign carpal tunnel syndrome Tinel sign Phalen maneuver Legs Gowers' sign Hoover's sign Lasègue's sign Trendelenburg's sign Torso Beevor's sign General Pain stimulus