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ANE Syndrome

Alopecia - Neurologic Defects - Endocrinopathy Syndrome


Presentation

  • Acronym ANES Synonyms Alopecia-progressive neurological defect-endocrinopathy ANE syndrome Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • […] by , Last updated May 7, 2017 aka Microbial Mystery 007 A 15 year-old female presents with fever (T39.0), vomiting and diarrhoea, widespread muscle aches and a confluent erythematous macular rash resembling sunburn all over her body.[lifeinthefastlane.com]
  • The final part of the volume therefore presents an accurate account of the vast psychological consequences of this disease.[books.google.com]
  • The aim of the present study was to characterize the endocrine phenotype of ANE syndrome and to delineate its pathogenesis.[ncbi.nlm.nih.gov]
  • Hypotonia may be present in Williams syndrome, and this disorder of muscle tone should warn of a possible interaction with anaesthetic agents.[williams-syndrome.org]
Masseter Spasm
  • There are, however, no data that suggest an increased incidence of masseter spasm or malignant hyperthermia in these patients. The incidence of masseter spasm varies depending on the anaesthetic technique.[williams-syndrome.org]
Jaw Stiffness
  • Van der Spek et al. measured mouth opening after induction of muscle relaxation with suxamethonium, pancuronium and vecuronium in children and found there was a highly significant reduction in mouth opening and increase in jaw stiffness with suxamethonium[williams-syndrome.org]
Conjunctival Hyperemia
  • hyperemia Renal : BUN or creatinine at least twice the upper limit of normal or urinary sediment with pyuria ( 5 leukocytes/hpf) in the absence of urinary tract infection Hepatic : Total bilirubin, AST, and ALT at least twice the upper limit of normal[lifeinthefastlane.com]
Alopecia
  • Gov't MeSH terms Alopecia/metabolism* Alopecia/physiopathology Cells, Cultured Endocrine System Diseases/metabolism* Endocrine System Diseases/physiopathology Gene Expression Regulation* Genes, Reporter Hair/growth & development Hair Follicle/growth &[ncbi.nlm.nih.gov]
  • ., Intramural MeSH terms Alopecia/physiopathology* Circular Dichroism Endocrine System Diseases/physiopathology* Humans Intellectual Disability/physiopathology* Magnetic Resonance Spectroscopy Models, Biological Mutant Proteins/chemistry Mutant Proteins[ncbi.nlm.nih.gov]
  • Definition Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair.[uniprot.org]
  • We investigated an autosomal-recessive phenotype characterized by alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome).[ncbi.nlm.nih.gov]
Alteration of Consciousness
  • […] in consciousness without focal neurologic signs when fever and hypotension are absent 6.[lifeinthefastlane.com]

Workup

Pyuria
  • : Severe myalgia or creatine phosphokinase level at least twice the upper limit of normal Mucous membrane : Vaginal, oropharyngeal, or conjunctival hyperemia Renal : BUN or creatinine at least twice the upper limit of normal or urinary sediment with pyuria[lifeinthefastlane.com]
Staphylococcus Aureus
  • Negative results on the following tests, if obtained: Blood, throat, or CSF cultures (blood culture may be positive for Staphylococcus aureus ) Rise in titer to Rocky Mountain spotted fever, leptospirosis, or rubeola Based on the available information[lifeinthefastlane.com]

Treatment

  • Tese processes (e.g., detailed protocols for chemotherapy application, treatment fowcharts, clinical pathways) are continuously tested and validated in clinical practice.[books.google.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • What is the treatment? Supportive care IV fluids and vasopressor support to maintain systemic perfusion.[lifeinthefastlane.com]
  • Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr 2008;167:267–77 2.[journals.lww.com]
  • Fewer people develop AIDS now because treatment for HIV means that more people are staying well. Although there is no cure for HIV, with the right treatment and support, people living with HIV can enjoy long and healthy lives.[avert.org]

Prognosis

  • Treatment and prognosis ANEC carries a very poor prognosis; the mortality rate is near 70%. Treatment is mainly supportive, as the precise etiology remains unknown.[radiopaedia.org]
  • Treatment and prognosis Not surprisingly, the degree of involvement of the cord and degree of swelling herald a poor prognosis, with many patients not being able to walk and requiring long-term urinary catheterization.[radiopaedia.org]
  • What is the prognosis? Mortality rate is now Some patients are predisposed to relapse of TSS. This may be due to failure of an antibody response from interferon-gamma suppression of polyclonal immunoglobulin production.[lifeinthefastlane.com]
  • In most cases, TBMD has a benign course, meaning that the long-term prognosis for most people are good and people with the disease generally live normal lives. However, in some cases complications arise and further treatment is required.[kidney.org]
  • Treatment Stopping drugs that affect the serotonin receptors Prescribing a sedative When serotonin syndrome is recognized and treated promptly, the prognosis is usually good. All drugs that affect the serotonin receptors should be stopped.[merckmanuals.com]

Etiology

  • A viral etiology has been proposed in some cases; viral prodrome hence may precede the neurological deficits. The etiology and the pathogenesis of ANEC remain partially clear.[radiopaedia.org]
  • The demographic of affected individuals will reflect the underlying cause, although generally, two peaks are present with different etiologies. In childhood, most cases are due to trauma or cardiac malformations 5.[radiopaedia.org]
  • 雑誌 Am J Hum Genet 82:1114-21 (2008) DOI: 10.1016/j.ajhg.2008.03.014 文献 PMID: 20231366 著者 Spiegel R, Shalev SA, Adawi A, Sprecher E, Tenenbaum-Rakover Y タイトル ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency[genome.jp]
  • Acute hemorrhagic leukoencephalitis, also known as Weston-Hurst syndrome, is an excessive immunological response of unknown etiology. So far, an association with multiple sclerosis has not been reported.[jneuroinflammation.biomedcentral.com]
  • Interestingly, four of these five genes have been implicated in the etiology of long QT syndrome but with mutations in the opposite sense, that’s to say, loss of function mutations instead of gain of function mutations of potassium channels.[escardio.org]

Epidemiology

  • Increased knowledge of tumor biology, epidemiology, molecular genetics, growth reg- lation, and cellular functions has led to novel therapeutic paradigms.[books.google.com]
  • He has since completed further training in emergency medicine, clinical toxicology, clinical epidemiology and health professional education.[lifeinthefastlane.com]
  • Functionally, the fabella is believed to have a role similar to the patella in redirecting extension forces of the knee joint from one point to another whereas the fabella redirects forces on the flexor side Epidemiology /Aetiology The presence of the[physio-pedia.com]
  • Epidemiology Many landmark HF trials did not include patients with significant CKD; therefore, the majority of epidemiologic information of CKD in the HF population stems from large registries such as the Acute Decompensated Heart Failure National Registry[cjasn.asnjournals.org]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology of the syndrome is unknown. I report a patient who developed the syndrome during treatment for schizophrenia with the antipsychotic agent molindone hydrochloride.[link.springer.com]
  • However, the pathophysiology of kidney disease in HF is quite different from the pathophysiology of cardiovascular complications in the setting of CKD ( 6 ).[cjasn.asnjournals.org]
  • "Pathophysiology of Irritable Bowel Syndrome." UpToDate. Updated: Aug 11, 2016.[medicinenet.com]
  • The pathophysiology of PRIS is complex. Propofol infusion syndrome has a higher incidence in critically ill patients compared with healthy patients receiving propofol for routine anesthesia.[annalsofintensivecare.springeropen.com]

Prevention

  • Patients with Hunter syndrome undergo multiple surgeries during their average lifespan of 1 However, the recently approved therapeutic agent iduronate may perhaps slow or prevent new glycosaminoglycan accumulation, extending patient lifespan further into[journals.lww.com]
  • Surgical treatment removal of foreign material if present in the vagina incision and drainage of any infected foci Antibiotics may not alter the course of the acute illness but aims to eradicate the causative organism and prevent relapses. e.g. clindamycin[lifeinthefastlane.com]
  • […] appropriate discharges Prevention of symptomatic episodes of atrial fibrillation However, drugs must be used with caution since the long-term efficacy of drug therapy in preventing serious arrhythmic events has been studied only in SQTS 1 patients and[escardio.org]
  • There's generally no prevention for most cases of aplastic anemia.[mayoclinic.org]
  • First, imagine your gut is a house and your gut lining is a 24/7 security guard that prevents unwanted guests from entering.[blog.kettleandfire.com]

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