SCA5 belongs to type III ADCA (see this term) and represents a pure ataxia syndrome with on average earlier age of symptomatic disease onset ranging from 14 to 50 years.
A number sign (#) is used with this entry because spinocerebellar ataxia-20 (SCA20) is caused by a heterozygous 260-kb duplication on chromosome 11q12, and is thus a contiguous gene duplication syndrome. Description SCA20 is an autosomal dominant adult-onset disorder characterized by dysarthria due to spasmodic dysphonia followed by slowly progressive ataxia (summary by Knight et al., 2004).
., not inherited) cases, possibly representing a unique degenerative syndrome [Sperling & Herrmann 1985] Rarely, in multiple-system atrophy, cerebellar type In early adult-onset Alexander disease, in which bulbar palsy and spastic tetraparesis are also seen. ... In a dominant branchial myoclonus syndrome with ataxia (OMIM 113610) [de Yebenes et al 1988], which may be a phenotypic variant of adult-onset Alexander disease Dysphonia (which is apparent in SCA20 rather than confirmed on formal voice analysis) may also be seen with ataxia and motor neuropathy (OMIM 606183) [Barbieri et al 2001]; this latter syndrome appears to be inherited in an autosomal recessive manner. The presence of motor neuropathy and the absence of dentate calcification and palatal tremor also serve to distinguish this syndrome from SCA20. Management Evaluations Following Initial Diagnosis To establish the extent of disease in an individual diagnosed with spinocerebellar ataxia type 20 (SCA20), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended: Careful clinical and neurologic evaluation Speech assessment Consultation with a clinical geneticist and/or genetic counselor Treatment of Manifestations Affected persons should be followed by a neurologist with consultation from physiatrists and physical and occupational therapists.
Type 2 diabetes in children is often associated with metabolic syndrome and polycystic ovarian syndrome. Metabolic syndrome When certain conditions occur with obesity, they are associated with insulin resistance and can increase the risk of diabetes — and heart disease and stroke. A combination of the following conditions is often called metabolic syndrome: High blood pressure Low levels of high-density lipoproteins (HDL), the "good" cholesterol High triglycerides High blood sugar levels Large waist size Polycystic ovary syndrome Polycystic ovary syndrome (PCOS) affects young females after puberty. ... Your health care provider will also periodically check your child's: Growth Blood pressure Cholesterol levels Kidney and liver function Eyes — usually annually Feet Risk of polycystic ovary syndrome and obstructive sleep apnea Your child's health care provider will likely recommend a flu shot for your child every year, and may recommend the pneumonia vaccine and the COVID-19 vaccine if your child is age 5 or older.
Wiltshire et al. (2008) analyzed the K198N polymorphism of the EDN1 gene in 1,109 individuals from the general population of Western Australia and 556 patients with coronary artery disease, and found no association with hypertension, systolic blood pressure, lipid levels, insulin resistance, or metabolic syndrome in either population. Auriculocondylar Syndrome 3 In patients from 2 unrelated consanguineous families with auriculocondylar syndrome-3 (ARCND3; 615706), Gordon et al. (2013) identified homozygosity for missense mutations in the EDN1 gene (131240.0002 and 131240.0003) that segregated with disease in each family. ... Gordon et al. (2013) suggested a model in which heterozygous-null EDN1 alleles result in isolated question mark ears, whereas hypomorphic alleles result in an auriculocondylar syndrome phenotype in homozygotes and no phenotype in heterozygotes. ... The phenotype of the homozygous ET1 deficient mice was quite similar to first pharyngeal arch syndromes, such as Pierre Robin syndrome (261800) and Treacher Collins syndrome (154500).
It shows that CyN is a stem cell disorder. [25] Yearly bone marrow examinations are not recommended. [23] Prognosis [ edit ] There is a very high risk of life-threatening infections and death at an early age. [13] The quality of life and survival greatly improves with G-CSF treatment, which is practiced since the late 1980s. [21] Unlike severe congenital neutropenia, individuals with cyclic neutropenia have a better response to G-CSF and do not have a risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). [1] [3] However, in long-term observation of over 300 patients with CyN, there has been one case of developing chronic myelogenous leukemia (CML) and one of AML, [21] [24] indicating it is also a pre-leukemic condition, but the risk is "very low" (1% [18] ), [26] and the risk is "correlated with disease severity rather than with occurrence of an ELANE mutation". [10] According to Donadieu et al. (2011), "the cumulative risk of experiencing at least one serious (potentially life-threatening) infection by age 20 years is similar in patients with permanent and cyclic neutropenia, although the former patients tend to have earlier manifestations". [13] History [ edit ] First described in 1910, [21] [2] it was suggested and confirmed to have an autosomal dominant (AD) inheritance in the 1940s and 1960s, [27] but was differentiated from congenital neutropenias until the 1990s when were analyzed pedigrees and identified genetic mutations shared by patients with severe congenital neutropenia . [13] See also [ edit ] Leukopenia Agranulocytosis References [ edit ] ^ a b c d e f g h i j k l m n o p q r s t Dale DC, Makaryan V (2018) [2002]. ... External links [ edit ] Severe Chronic Neutropenia International Registry " Understanding Neutropenia: The 20 Year Experience of the Severe Chronic Neutropenia International Registry (SCNIR) " (2014) Classification D ICD - 9-CM : 288.02 OMIM : 162800 MeSH : C536227 DiseasesDB : 30103 External resources GeneReviews : ELANE-Related Neutropenia v t e Oral and maxillofacial pathology Lips Cheilitis Actinic Angular Plasma cell Cleft lip Congenital lip pit Eclabium Herpes labialis Macrocheilia Microcheilia Nasolabial cyst Sun poisoning Trumpeter's wart Tongue Ankyloglossia Black hairy tongue Caviar tongue Crenated tongue Cunnilingus tongue Fissured tongue Foliate papillitis Glossitis Geographic tongue Median rhomboid glossitis Transient lingual papillitis Glossoptosis Hypoglossia Lingual thyroid Macroglossia Microglossia Rhabdomyoma Palate Bednar's aphthae Cleft palate High-arched palate Palatal cysts of the newborn Inflammatory papillary hyperplasia Stomatitis nicotina Torus palatinus Oral mucosa – Lining of mouth Amalgam tattoo Angina bullosa haemorrhagica Behçet's disease Bohn's nodules Burning mouth syndrome Candidiasis Condyloma acuminatum Darier's disease Epulis fissuratum Erythema multiforme Erythroplakia Fibroma Giant-cell Focal epithelial hyperplasia Fordyce spots Hairy leukoplakia Hand, foot and mouth disease Hereditary benign intraepithelial dyskeratosis Herpangina Herpes zoster Intraoral dental sinus Leukoedema Leukoplakia Lichen planus Linea alba Lupus erythematosus Melanocytic nevus Melanocytic oral lesion Molluscum contagiosum Morsicatio buccarum Oral cancer Benign: Squamous cell papilloma Keratoacanthoma Malignant: Adenosquamous carcinoma Basaloid squamous carcinoma Mucosal melanoma Spindle cell carcinoma Squamous cell carcinoma Verrucous carcinoma Oral florid papillomatosis Oral melanosis Smoker's melanosis Pemphigoid Benign mucous membrane Pemphigus Plasmoacanthoma Stomatitis Aphthous Denture-related Herpetic Smokeless tobacco keratosis Submucous fibrosis Ulceration Riga–Fede disease Verruca vulgaris Verruciform xanthoma White sponge nevus Teeth ( pulp , dentin , enamel ) Amelogenesis imperfecta Ankylosis Anodontia Caries Early childhood caries Concrescence Failure of eruption of teeth Dens evaginatus Talon cusp Dentin dysplasia Dentin hypersensitivity Dentinogenesis imperfecta Dilaceration Discoloration Ectopic enamel Enamel hypocalcification Enamel hypoplasia Turner's hypoplasia Enamel pearl Fluorosis Fusion Gemination Hyperdontia Hypodontia Maxillary lateral incisor agenesis Impaction Wisdom tooth impaction Macrodontia Meth mouth Microdontia Odontogenic tumors Keratocystic odontogenic tumour Odontoma Dens in dente Open contact Premature eruption Neonatal teeth Pulp calcification Pulp stone Pulp canal obliteration Pulp necrosis Pulp polyp Pulpitis Regional odontodysplasia Resorption Shovel-shaped incisors Supernumerary root Taurodontism Trauma Avulsion Cracked tooth syndrome Vertical root fracture Occlusal Tooth loss Edentulism Tooth wear Abrasion Abfraction Acid erosion Attrition Periodontium ( gingiva , periodontal ligament , cementum , alveolus ) – Gums and tooth-supporting structures Cementicle Cementoblastoma Gigantiform Cementoma Eruption cyst Epulis Pyogenic granuloma Congenital epulis Gingival enlargement Gingival cyst of the adult Gingival cyst of the newborn Gingivitis Desquamative Granulomatous Plasma cell Hereditary gingival fibromatosis Hypercementosis Hypocementosis Linear gingival erythema Necrotizing periodontal diseases Acute necrotizing ulcerative gingivitis Pericoronitis Peri-implantitis Periodontal abscess Periodontal trauma Periodontitis Aggressive As a manifestation of systemic disease Chronic Perio-endo lesion Teething Periapical, mandibular and maxillary hard tissues – Bones of jaws Agnathia Alveolar osteitis Buccal exostosis Cherubism Idiopathic osteosclerosis Mandibular fracture Microgenia Micrognathia Intraosseous cysts Odontogenic : periapical Dentigerous Buccal bifurcation Lateral periodontal Globulomaxillary Calcifying odontogenic Glandular odontogenic Non-odontogenic: Nasopalatine duct Median mandibular Median palatal Traumatic bone Osteoma Osteomyelitis Osteonecrosis Bisphosphonate-associated Neuralgia-inducing cavitational osteonecrosis Osteoradionecrosis Osteoporotic bone marrow defect Paget's disease of bone Periapical abscess Phoenix abscess Periapical periodontitis Stafne defect Torus mandibularis Temporomandibular joints , muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities Bruxism Condylar resorption Mandibular dislocation Malocclusion Crossbite Open bite Overbite Overeruption Overjet Prognathia Retrognathia Scissor bite Maxillary hypoplasia Temporomandibular joint dysfunction Salivary glands Benign lymphoepithelial lesion Ectopic salivary gland tissue Frey's syndrome HIV salivary gland disease Necrotizing sialometaplasia Mucocele Ranula Pneumoparotitis Salivary duct stricture Salivary gland aplasia Salivary gland atresia Salivary gland diverticulum Salivary gland fistula Salivary gland hyperplasia Salivary gland hypoplasia Salivary gland neoplasms Benign: Basal cell adenoma Canalicular adenoma Ductal papilloma Monomorphic adenoma Myoepithelioma Oncocytoma Papillary cystadenoma lymphomatosum Pleomorphic adenoma Sebaceous adenoma Malignant: Acinic cell carcinoma Adenocarcinoma Adenoid cystic carcinoma Carcinoma ex pleomorphic adenoma Lymphoma Mucoepidermoid carcinoma Sclerosing polycystic adenosis Sialadenitis Parotitis Chronic sclerosing sialadenitis Sialectasis Sialocele Sialodochitis Sialosis Sialolithiasis Sjögren's syndrome Orofacial soft tissues – Soft tissues around the mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus of dental origin Cystic hygroma Gnathophyma Ludwig's angina Macrostomia Melkersson–Rosenthal syndrome Microstomia Noma Oral Crohn's disease Orofacial granulomatosis Perioral dermatitis Pyostomatitis vegetans Other Eagle syndrome Hemifacial hypertrophy Facial hemiatrophy Oral manifestations of systemic disease
A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.
Cyclic neutropenia is a rare blood disorder characterized by recurrent episodes of abnormally low levels of neutrophils (a type of white blood cell) in the body. Neutrophils are instrumental in fighting off infection by surrounding and destroying bacteria that enter the body. Symptoms of cyclic neutropenia may include fever, a general feeling of ill health, and/or sores (ulcers) of the mucous membranes of the mouth. Individuals with low levels of neutrophils (neutropenia) are highly susceptible to recurrent infections. Cyclic neutropenia may be inherited or acquired. Some cases are present at birth and appear to occur randomly for no apparent reason (sporadic).
Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia during which there is a shortage (deficiency) of neutrophils . Neutrophils are a type of white blood cell that plays a role in inflammation and in fighting infection. The episodes of neutropenia are apparent at birth or soon afterward. For most affected individuals, neutropenia recurs every 21 days and lasts about 3 to 5 days. Neutropenia makes it more difficult for the body to fight off pathogens such as bacteria and viruses, so people with cyclic neutropenia typically develop recurrent infections of the sinuses, respiratory tract, and skin.
Vibration white finger ( VWF ), also known as hand-arm vibration syndrome ( HAVS ) or dead finger , [1] is a secondary form of Raynaud's syndrome , an industrial injury triggered by continuous use of vibrating hand-held machinery. ... See also [ edit ] List of cutaneous conditions Hypothenar hammer syndrome References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
If the amount of ammonia entering the brain is increased, neurological disorders such as urea cycle enzyme deficiencies, Reye syndrome , seizures, and encephalopathies may occur. [3] The most common indicator of THAN is respiratory distress syndrome . ... Severe Transient Hyperammonemia causes neurological problems as ammonia levels in the brain are too high, which can cause infant hyptotonia as well as neonatal seizures. [5] Severe Transient Hyperammonemia can also cause respiratory distress syndrome. [5] Chest x-rays may resemble hyaline membrane disease . [5] Differentiating between UCED and THAN [ edit ] A study was done by Hudak to find the differences between transient hyperammonemia of the newborn (THAN) and urea cycle enzyme deficiency(UCED) on 33 THAN victims and 13 UCED victims. [6] Some of the clinical findings were not able to be measured in the THAN patients due to lack of equipment or lack of reported information in these 33 cases, so the numbers shown represent the number of positive clinical findings/out of the number cases in which the symptom could be observed or was documented.
People with subarachnoid hemorrhage , a blown pupil , respiratory distress , hypotension , or cerebral vasospasm are more likely to have worse outcomes. [4] People with penetrating head trauma may have complications such as acute respiratory distress syndrome , disseminated intravascular coagulation , and neurogenic pulmonary edema . [4] [8] Up to 50% of patients with penetrating brain injuries get late-onset post-traumatic epilepsy . [9] See also [ edit ] Brain herniation Traumatic brain injury References [ edit ] ^ University of Vermont College of Medicine. ... External links [ edit ] Classification D ICD - 10 : S01.9 MeSH : D020197 External resources eMedicine : med/2888 v t e Nonmusculoskeletal injuries of head ( head injury ) and neck Intracranial see neurotrauma Extracranial/ facial trauma eye : Black eye Eye injury Corneal abrasion ear : Perforated eardrum Either/both Penetrating head injury v t e Trauma Principles Polytrauma Major trauma Traumatology Triage Resuscitation Trauma triad of death Assessment Clinical prediction rules Revised Trauma Score Injury Severity Score Abbreviated Injury Scale NACA score Investigations Diagnostic peritoneal lavage Focused assessment with sonography for trauma Management Principles Advanced trauma life support Trauma surgery Trauma center Trauma team Damage control surgery Early appropriate care Procedures Resuscitative thoracotomy Pathophysiology Injury MSK Bone fracture Joint dislocation Degloving Soft tissue injury Resp Flail chest Pneumothorax Hemothorax Diaphragmatic rupture Pulmonary contusion Cardio Internal bleeding Thoracic aorta injury Cardiac tamponade GI Blunt kidney trauma Ruptured spleen Neuro Penetrating head injury Traumatic brain injury Intracranial hemorrhage Mechanism Blast injury Blunt trauma Burn Penetrating trauma Crush injury Stab wound Ballistic trauma Electrocution Region Abdominal trauma Chest trauma Facial trauma Head injury Spinal cord injury Demographic Geriatric trauma Pediatric trauma Complications Posttraumatic stress disorder Wound healing Acute lung injury Crush syndrome Rhabdomyolysis Compartment syndrome Contracture Volkmann's contracture Embolism air fat Chronic traumatic encephalopathy Subcutaneous emphysema
Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations.
X-linked recessive chondrodysplasia punctata Specialty Medical genetics X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness. [1] : 500 This condition is also known as arylsulfatase E deficiency, CDPX1, and X-linked recessive chondrodysplasia punctata 1. The syndrome rarely affects females, but they can be carriers of the recessive allele. ... Causes of BCDP can also come from genetic effects, mainly due to mutations. Keutel syndrome, deficiency of vitamin K epoxide reductase subunit 1 (VKORC1), gamma-glutamyl carboxylase (GGCX), Xp contiguous deletion syndromes, and multiple sulfatase deficiency are all genetic conditions that are associated BCDP. [5] Diagnosis [ edit ] This condition occurs almost exclusively in males.
A rare bacterial infectious disease caused by the louse-borne bacterium Bartonella quintana and characterized by a variable clinical picture with acute or insidious onset of a (potentially relapsing) febrile illness, headache, leg pain (most typically the shinbone), endocarditis, and thrombocytopenia. There may also be only non-specific symptoms that mimic other infections. The disease nowadays most commonly affects socially disadvantaged persons in urban areas.
If hyperglycerolemia results from a deletion of the glycerol kinase gene then it often is part of a contiguous gene deletion syndrome with associated Duchenne muscular dystrophy and adrenal hypoplasia congenita . [8] Diagnosis [ edit ] Glycerol and glycerol kinase activity analyses are usually not offered by routine general medical laboratories. [9] To diagnose hyperglycerolemia, blood and urine can be tested for the amounts of glycerol present. ... The infantile form is associated with severe developmental delay and results in a syndrome with Xp21 gene deletion with congenital adrenal hypoplasia and/or Duchenne muscular dystrophy . ... The juvenile form is an uncommon form characterized by Reye syndrome -like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness. [10] Treatment [ edit ] In adults, fibrates and statins have been prescribed to treat hyperglycerolemia by lowering blood glycerol levels.
The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (300679) with congenital adrenal hypoplasia (300200) and/or Duchenne muscular dystrophy (DMD; 310200), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).
Massage: Massaging an injured area can promote blood flow and swelling, and potentially cause more damage if done too early. [3] Treatment [ edit ] If severe pain persists after the first 24hours it is recommended that an individual consult with a professional who can make a diagnosis and implement a treatment plan so the patient can return to everyday activities. [5] To make a full diagnosis, a professional may use nerve conduction studies to localize nerve dysfunction (e.g. carpal tunnel syndrome ), assess severity, and help with prognosis. ... California, United States of America: North Atlantic Books. v t e Trauma Principles Polytrauma Major trauma Traumatology Triage Resuscitation Trauma triad of death Assessment Clinical prediction rules Revised Trauma Score Injury Severity Score Abbreviated Injury Scale NACA score Investigations Diagnostic peritoneal lavage Focused assessment with sonography for trauma Management Principles Advanced trauma life support Trauma surgery Trauma center Trauma team Damage control surgery Early appropriate care Procedures Resuscitative thoracotomy Pathophysiology Injury MSK Bone fracture Joint dislocation Degloving Soft tissue injury Resp Flail chest Pneumothorax Hemothorax Diaphragmatic rupture Pulmonary contusion Cardio Internal bleeding Thoracic aorta injury Cardiac tamponade GI Blunt kidney trauma Ruptured spleen Neuro Penetrating head injury Traumatic brain injury Intracranial hemorrhage Mechanism Blast injury Blunt trauma Burn Penetrating trauma Crush injury Stab wound Ballistic trauma Electrocution Region Abdominal trauma Chest trauma Facial trauma Head injury Spinal cord injury Demographic Geriatric trauma Pediatric trauma Complications Posttraumatic stress disorder Wound healing Acute lung injury Crush syndrome Rhabdomyolysis Compartment syndrome Contracture Volkmann's contracture Embolism air fat Chronic traumatic encephalopathy Subcutaneous emphysema