See also: Peripheral Neuropathy and Carpal tunnel syndrome This article is an orphan , as no other articles link to it . ... Autonomic nerve damage [ edit ] This “affects the axons in small-fibre neuropathies”. [4] Excess sweating, heat intolerance, unstable blood pressure, and gastrointestinal abnormalities are all symptoms that can be linked to autonomic nerve damage. [4] Some peripheral neuropathic and mono-neuropathic disorders that stem from autonomic nerve damage include: "diabetes... Guillain-Barre syndrome, carpal tunnel syndrome, meralgia paresthetica... ... Diabetes, alcoholism, poor nutrition, particular medications, cancer and/or chemotherapy, can all be classified as causes for acquired neuropathies. [1] Hereditary neuropathies - these neuropathies stem from diseased genetically passed material that inherently make up the child’s peripheral nervous system, such as Charcot-Marie-Tooth disease type1. [1] Idiopathic neuropathies - these types of neuropathies are developed from an unknown cause. [1] Causes of Peripheral Neuropathy based on clinical presentation [5] Conditions causing mononeuropathy Acute (trauma related) Chronic (nerve entrapment) Disorders causing mononeuropathy multiplex Acute Diabetes mellitus Multifocal motor neuropathy Vasculitis syndromes Chronic Acquired immunodeficiency syndrome Leprosy Sarcoidosis Conditions causing neuropathy with autonomic features Alcoholism Amyloidosis Chemotherapy-related neuropathy Diabetes Heavy metal toxicity Paraneoplastic syndrome Porphyria Primary dysautonomia Vitamin B12 deficiency Conditions causing painful neuropathy Alcoholism Amyloidosis Chemotherapy (heavy metal toxicity) Diabetes Idiopathic polyneuropathy Porphyria Diagnosis [ edit ] Due to the fact that the symptoms of peripheral mononeuropathy and neuropathy can be so diverse, means that the diagnosis of neuropathies can often be difficult and therefore require more medical testing to ensure the appropriate diagnosis. [4] Diagnosing neuropathic disorders often includes: Medical history - this will include any previous diagnoses or disorders, triggers or symptoms that usually arise, and other factors such as work environment and social habits etc. [4] Physical and neurological exams - the doctor will examine the patient to see if any other diseases or disorders have developed over time, and if it effects the diagnosis of a neuropathic disorder. [4] Body fluid tests - blood tests are more valuable to detect things like diabetes of vitamin deficiencies, whilst other bodily fluids are not used as commonly. [4] Genetic testing - used to see if any forms of neuropathy have been inherited from the patient’s parents or grandparents. [4] Treatment [ edit ] Peripheral mononeuropathy can be complex in the sense that it can be diagnoses and treated in numerous ways, because of its diversity of symptoms and causes. [4] Therefore, treating peripheral mononeuropathy depends on what nerve area is damaged and the patient’s symptoms. ... Interestingly, mice deficient of TNF receptor 1 develop mechanical allodynia after CCI (Chronic Constrictive Injury) but not thermal hyperalgesia, indicating a greater influence of endogenous TNF on thermal than on mechanical thresholds”. [7] Another study by Jianren Mao et al. examined how “intrathecal treatment with dextrorphan or ketamine potently reduces pain-related behaviours in a rat model of peripheral mononeuropathy”. [8] Mao understands that “the experimental neuropathic pain syndrome seen in CCI rats is similar in many respects to the neuropathic pain syndrome seen in man”. [8] Mao et al. concludes that “Mechanisms of dextrorphan and ketamine induced attenuation of nociceptive behaviours in CCI rats are likely to be related to their effects on NMDA (N-methyl-D-aspartate) receptor-mediated central nervous system excitability that may occur following peripheral nerve injury. ... Since peripheral anaesthesia of the injured sciatic nerve after the development of pain-related behaviours was also found to attenuate thermal hyperalgesia in CCI rats, dextrorphan or ketamine treatment, alone or in combination with local nerve anaesthesia, may prove to be a useful therapeutic means for clinical management of neuropathic pain syndromes”. [8] The third research experiment that will be presented on this article is Patrick M.
Scharf, R. 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The symptoms/signs of pulmonary heart disease (cor pulmonale) can be non-specific and depend on the stage of the disorder, and can include blood backing up into the systemic venous system , including the hepatic vein . [7] [8] As pulmonary heart disease progresses, most individuals will develop symptoms like: [1] Shortness of breath Wheezing Cyanosis Ascites Jaundice Enlargement of the liver Raised jugular venous pressure (JVP) Third heart sound Intercostal recession Presence of abnormal heart sounds Causes [ edit ] Blood clot [9] The causes of pulmonary heart disease (cor pulmonale) are the following: Acute respiratory distress syndrome (ARDS) [10] COPD [2] Primary pulmonary hypertension [2] Blood clots in lungs [2] Kyphoscoliosis [2] Interstitial lung disease [2] Cystic fibrosis [2] Sarcoidosis [11] Obstructive sleep apnea (untreated) [2] Sickle cell anemia [12] Bronchopulmonary dysplasia (in infants) [13] Pathophysiology [ edit ] The pathophysiology of pulmonary heart disease (cor pulmonale) has always indicated that an increase in right ventricular afterload causes RV failure (pulmonary vasoconstriction , anatomic disruption/pulmonary vascular bed and increased blood viscosity are usually involved [1] ), however most of the time, the right ventricle adjusts to an overload in chronic pressure. ... External links [ edit ] Classification D ICD - 10 : I26 , I27 ICD - 9-CM : 415.0 MeSH : D011660 External resources MedlinePlus : 000129 Scholia has a topic profile for Pulmonary heart disease . 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 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 Authority control NDL : 00562815
Clinical Features Smith et al. (2008) reported 3 sibs, 2 boys and a girl, with a similar syndrome comprising hypotonia, seizures, and dysmorphic features. ... Smith et al. (2008) noted that some of the features were similar to that of Prader-Willi syndrome (176270), but none of the children had feeding problems or obesity.
It includes three different conditions, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), Prune belly sequence or syndrome and chronic intestinal pseudoobstruction (CIPO).
Linkage to early-onset disorders associated with high-grade myopia (Marfan syndrome, 154700; juvenile glaucoma, see 137750; and Stickler syndrome, see 108300) was excluded to ensure that the family did not exhibit a partial phenotypic expression of these conditions limited to the ocular findings.
Paroxysmal hand hematoma Other names Achenbach syndrome Paroxysmal hand hematoma Achenbach syndrome; it appears often on the internal surface of the finger and rather under the middle finger or forefinger at the joints of the first or second phalanx .
The father of the mother as well as the mother's brother had chronic hereditary nephritis and hearing loss (?Alport syndrome; 104200). Neutropenia, presumably benign, was demonstrated in 2 of the affected sibs in the third generation. It is possible that Meredith (1987) was describing ocular changes of Alport syndrome. INHERITANCE - Autosomal dominant HEAD & NECK Ears - Hearing loss Eyes - Retinal venous segmental beading - Focal retinal infarction - Surface retinal neovascularization - Vitreous hemorrhage - Retinal microaneurysms - Altered retinal vascular permeability with lipid exudation - Focal retinal edema - Abnormal distribution of retinal arterioles and venules - Saccular conjunctival aneurysms GENITOURINARY Kidneys - Chronic hereditary nephritis HEMATOLOGY - Benign neutropenia ▲ Close
Clinical description Most adult patients are asymptomatic, while in children nearly two thirds present with symptoms that include cough, chest pain, weight loss, fatigue and dyspnea. Many autoimmune syndromes are associated with TENs. Myasthenia gravis (see this term) is observed in 30-50% of thymoma cases. Phrenic nerve palsy and superior vena cava syndrome are usually observed in cases of thymic carcinoma.
Also see acromelic frontonasal dysplasia (AFND; 603671), frontofacionasal dysplasia (FFND; 229400), oculoauriculofrontonasal syndrome (OAFNS; 601452), the acrofrontofacionasal dysostosis syndromes (201180, 239710), and craniofrontonasal syndrome (304110). ... Lees et al. (1998) suggested that these patients represent a distinct entity, which lies within the spectrum of the frontonasal dysplasia syndrome. Nevin et al. (1999) described a 2-year-old girl with anterior cranium bifidum occultum, lipoma of the genu and anterior part of the corpus callosum, and hypertelorism. ... Lopes et al. (2004) suggested that this child had a previously unrecognized syndrome. Guion-Almeida and Richieri-Costa (2009) described 10 Brazilian male patients with frontonasal dysplasia, cleft lip/palate, mental retardation, lack of language acquisition, and midline central nervous system anomalies, mainly agenesis of the corpus callosum, large interhemispheric cysts, gyral anomalies, and occasional neuronal heterotopias. Guion-Almeida and Richieri-Costa (2009) suggested that these patients represent a newly recognized recurrent-pattern syndrome of unknown cause previously subsumed under frontonasal dysplasia. ... He concluded that reports of dominant inheritance (e.g., Friede, 1954) may have represented Greig syndrome (145400). Autosomal recessive inheritance was suggested by the inbred kindred reported by Moreno Fuenmayor (1980).
Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline.
Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism ); a broad nose; a slit (cleft ) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate ); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline . Other features of frontonasal dysplasia can include additional facial malformations, absence or malformation of the tissue that connects the left and right halves of the brain (the corpus callosum ), and intellectual disability. There are at least three types of frontonasal dysplasia that are distinguished by their genetic causes and their signs and symptoms. In addition to the features previously described, each type of frontonasal dysplasia is associated with other distinctive features.
A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.
Additional features in the syndromic patients included double kidney, cleft palate, and digital anomalies; 2 patients also had anal atresia. ... Holt-Danborg et al. (2019) reported 3 additional patients with the syndromic form of DIAR3 and reviewed published cases. ... In a 10-year-old boy with intractable diarrhea of infancy associated with syndromic features including choanal atresia and corneal erosions, who was 1 of 3 affected sibs originally described by Bird et al. (2007), Sivagnanam et al. (2010) identified homozygosity for the Y163C mutation in the SPINT2 gene (605124.0002). ... All patients with SPINT2 mutations exhibited syndromic features, including superficial punctate keratitis and choanal atresia, as well as other atresias, dermatologic anomalies, and bone malformations, whereas the patients with EPCAM mutations had isolated congenital diarrhea. In 3 patients with the syndromic form of DIAR3, Holt-Danborg et al. (2019) identified homozygous or compound heterozygous mutations in the SPINT2 gene (see, e.g., Y163C, 605124.0007 and W149X, 605124.0008).
There was maternal polyhydramnios in all pregnancies, and all patients had watery secretory diarrhea and prominent abdominal distention after birth due to dilated fluid-filled loops of intestine, indicating that secretory diarrhea had begun prenatally. None of the patients exhibited syndromic features. Inflammatory bowel disease developed in 2 patients, with onset at 4 years of age in 1 patient, resulting in ileocecal resection and temporary ileostomy due to recurrent episodes of small bowel obstruction.
A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis. ... Histological findings include a structurally intact epithelium and brush border with a normal villus-to-crypt ratio. Etiology The classical (non-syndromic) form of the disorder is due to loss of function of the intestinal sodium/hydrogen exchanger 3 (NHE3; encoded by SLC9A3 , 5p15.33), resulting in abrogated sodium absorption, enhanced fluid secretion and diarrhea. ... Differential diagnosis Differential diagnosis includes the syndromic form of congenital sodium diarrhea (due to SPINT2 mutations) which is typically distinguished by the presence of uni- or bilateral choanal atresia at birth.
Bronchopulmonary dysplasia a radiograph of bronchopulmonary dysplasia Specialty Pediatrics Bronchopulmonary dysplasia ( BPD ; formerly chronic lung disease of infancy ) is a chronic lung disease in which premature infants, usually those who were treated with supplemental oxygen, require long-term oxygen. [1] The alveoli that are present tend to not be mature enough to function normally. [2] It is more common in infants with low birth weight (LBW) and those who receive prolonged mechanical ventilation to treat respiratory distress syndrome (RDS). It results in significant morbidity and mortality. ... Management [ edit ] Infants with bronchopulmonary dysplasia are often treated with diuretics that decrease fluid in the alveoli where gas exchange occurs and bronchodilators that relax the airway muscles to facilitate breathing. [10] Viral immunization is also important for these children who have a higher risk of infections in the respiratory tract. [11] There is evidence to show that steroids given to babies less than 8 days old can prevent bronchopulmonary dysplasia. [12] However, the risks of neurodevelopmental sequelae may outweigh the benefits. [12] It is unclear if starting steroids more than 7 days after birth is harmful or beneficial. [13] It is thus recommended that they only be used in those who cannot be taken off of a ventilator. [13] Evidence suggests that vitamin A in LBW babies is associated with a reduction in mortality and bronchopulmonary dysplasia. [14] Oxygen therapy at home is recommended in those with significant low oxygen levels. [15] Epidemiology [ edit ] The rate of BPD varies among institutions, which may reflect neonatal risk factors, care practices (e.g., target levels for acceptable oxygen saturation), and differences in the clinical definitions of BPD. [16] [17] [18] See also [ edit ] Respiratory distress syndrome Wilson–Mikity syndrome References [ edit ] ^ Merck Manual, Professional Edition , Bronchopulmonary Dysplasia. ^ "Bronchopulmonary Dysplasia" . ... Bronchopulmonary Dysplasia on National Institutes of Health External links [ edit ] Classification D ICD - 10 : P27.1 ICD - 9-CM : 770.7 MeSH : D001997 DiseasesDB : 1713 External resources MedlinePlus : 001088 eMedicine : ped/289 Patient UK : Bronchopulmonary dysplasia Orphanet : 70589 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
Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants.
"Ophthalmitis" redirects here. For the genus of geometer moth, see Ophthalmitis (moth) . Ophthalmia (also called ophthalmitis ) is inflammation of the eye. It is a medical sign which may be indicative of various conditions, including sympathetic ophthalmia (inflammation of both eyes following trauma to one eye), gonococcal ophthalmia, trachoma or " Egyptian " ophthalmia, ophthalmia neonatorum (a conjunctivitis [1] of the newborn due to either of the two previous pathogens), photophthalmia and actinic conjunctivitis (inflammation resulting from prolonged exposure to ultraviolet rays), and others. Noted historical sufferers [ edit ] Aristodemus, a Spartan captain during the Second Persian invasion of Greece , was afflicted with ophthalmia and was thus unable to fight at the Battle of Thermopylae (of the famous Spartan 300). However, he fought bravely and died at the Battle of Plataea . Due to the ophthalmia, and his absence from the first battle, he was not buried with proper funeral rites of a Spartan captain. [2] Cicero, on 1 March 49 BC wrote to Atticus that he was suffering from ophthalmia. [3] Eratosthenes , who among other things was a Greek geographer and mathematician, contracted ophthalmia as he aged, becoming blind around 195 BC, depressing him and causing him to voluntarily starve himself to death. He died in 194 BC at the age of 82. [4] Hannibal 's sight was lost in his right eye in 217 BC by what was likely ophthalmia.
A rare ophthalmic disorder characterized by inflammation involving the vitreous and/or aqueous humors, usually due to bacterial or fungal infection. It may arise endogenously from hematogenous spread of the infectious agent, or exogenously after direct inoculation, and can take an acute or chronic course. Clinical signs and symptoms include progressive vitritis, hypopyon, reduced or blurred vision, red eye, pain, and lid swelling. The condition may be complicated by panophthalmitis, corneal infiltration and perforation, affection of orbital structures, and phthisis bulbi.
A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.