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HARP Syndrome


Presentation

  • When compared with placebo, simvastatin did not significantly reduce the number of ventilator-free days in patients presenting with acute respiratory distress syndrome. 2.[2minutemedicine.com]
  • A defect of vertical gaze noted in the present case report was also recorded in 3 sisters reported by Swisher et al.[pediatricneurologybriefs.com]
  • The "eye-of-the-tiger" sign, used to describe the pallidal nuclei in Hallervorden-Spatz syndrome, was present on T2-weighted MRIs (GE Signa, 1.5 T).[ncbi.nlm.nih.gov]
  • An 18-year-old woman presented with intellectual subnormality, night blindness, and dysarthria and dysphagia associated with orobucco-lingual dystonia. T2-weighted MRI showed the “eye-of-the-tiger” sign.[pediatricneurologybriefs.com]
  • To those readers who can recall the name of a syndrome, the alphabetical presentation should facilitate a review of the major diagnostic characteristics.[books.google.com]
Progressive Dementia
  • Abstract We describe the clinical and laboratory studies of an 11-year-old girl with prominent orofacial dyskinesia, dystonia, and progressive dementia.[ncbi.nlm.nih.gov]
  • Barton First published January 1, 1992, DOI: Abstract We describe the clinical and laboratory studies of an 11-year-old girl with prominent orofacial dyskinesia, dystonia, and progressive dementia.[neurology.org]
  • Development was normal until age 3 years, when spasticity began in the lower extremities and this was followed by language deterioration, generalized dystonia, orofacial dyskinesia, progressive dementia, and deterioration of visual acuity.[pediatricneurologybriefs.com]
  • Progressive dementia occurs in atypical pantothenate kinase–associated neurodegeneration. The one-to-one correlation between a specific radiographic finding, the eye-of-the-tiger sign, and mutations in a single gene, PANK2, is extraordinary.[nejm.org]
  • dementia, dystonia, spasticity, pallidal and retinal degeneration) with acanthocytosis; and (4) HARP syndrome (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration with iron deposition).[medtextfree.wordpress.com]
Sepsis
  • The findings of this study, taken along with the results from the Statins for Acutely Injured Lungs from Sepsis (SAILS) trial, suggest that there is little value in using statins to treat ARDS.[2minutemedicine.com]
  • The main causes of ARDS were pneumonia and sepsis.[nejm.org]
Camping
  • I give credit for my discovery of TMS to Jeff Galloway , whom I met at his Tahoe running camp in 2003. I was a bit of a mess. Galloway listened with earnest sympathy. Then he said, “There is a book you might want to read.” ( Healing Back Pain by Dr.[cynthiakuni.wordpress.com]
  • She went camp in the summers and had a tight group of friends that included her sister Mari. When she got upset at her older sister, Lillie, she'd dump all Lillie's belongings from their shared bedroom into the hallway.[indystar.com]
Collapse
  • If the hands are in a mechanically advantageous relationship to the harp, when you pluck the strings with released, not relaxed (collapsed) wrists, then you will be on your way to healing your carpal tunnel syndrome.[ethankind.com]
Limb Pain
  • […] paresthetica, shoulder tendinitis, failed back surgery syndrome, muscle pain, ankle arthritis, tendon rupture, nerve root injury, sports injury, hip arthritis, thigh pain, lumbar spinal stenosis, wrist pain, occipital neuralgia, hand injury, phantom limb[nyulangone.org]
Respiratory Distress
  • When compared with placebo, simvastatin did not significantly reduce the number of ventilator-free days in patients presenting with acute respiratory distress syndrome. 2.[2minutemedicine.com]
  • The Acute Respiratory Distress Syndrome Network. Ventilation with lower tidal volumes as compared with traditional tidal volumes for acute lung injury and the acute respiratory distress syndrome. N Engl J Med 2000 ;342: 1301 - 1308 10.[nejm.org]
Dysphagia
  • An 18-year-old woman presented with intellectual subnormality, night blindness, and dysarthria and dysphagia associated with orobucco-lingual dystonia. T2-weighted MRI showed the “eye-of-the-tiger” sign.[pediatricneurologybriefs.com]
  • […] acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome), in an 18-year-old woman who presented with longstanding intellectual subnormality, night blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria and dysphagia[ncbi.nlm.nih.gov]
Night Blindness
  • An 18-year-old woman presented with intellectual subnormality, night blindness, and dysarthria and dysphagia associated with orobucco-lingual dystonia. T2-weighted MRI showed the “eye-of-the-tiger” sign.[pediatricneurologybriefs.com]
  • blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria and dysphagia.[ncbi.nlm.nih.gov]
Strabismus
  • […] bird-headed dwarfism A popular term for Seckel syndrome, an autosomal recessive condition characterised by growth and mental retardation, a beak-like nose, micrognathism, microcephaly, prominent maxilla and eyes, hypertelorism, strabismus, anti-mongoloid[medical-dictionary.thefreedictionary.com]
  • Ocular abnormalities include limbal dermoids, strabismus. Otorhinolaryngological features include microtia, partial to complete atresia of external acoustic meatus, preauricular skin tags, deafness, macrosomia.[en.wikipedia.org]
Joint Dislocation
  • ., kyphoscoliosis, joint dislocations, clubbing of fingers) and genitourinary defects (e.g., cryptorchidism).[medical-dictionary.thefreedictionary.com]
  • dislocation 143095 CHST3 603799 7 Spondylometaphyseal dysplasia, Kozlowski typeSMDK 184252 TRPV4 605427 14 Spondyloperipheral dysplasiaSEMDSTWK 271700 COL2A1 120140 25 Stapes ankylosis with broad thumb and toes 184460 NOG 602991 7 Stickler syndrome,[medizinische-genetik.at]
Hip Pain
  • About Me Conditions and Treatments back pain, joint pain, musculoskeletal pain, sciatica, neck pain, hip pain, knee injury, muscle strain, degenerative disc disease, spinal cord stimulation, fibromyalgia, injury of the lumbar spine, knee ligament tear[nyulangone.org]
  • Back pain, hip pain, and foot pain took turns ruling my life, except when they all popped up at once. Occasionally other body parts chimed in.[cynthiakuni.wordpress.com]
Foot Pain
  • Back pain, hip pain, and foot pain took turns ruling my life, except when they all popped up at once. Occasionally other body parts chimed in.[cynthiakuni.wordpress.com]
  • […] dystrophy syndrome, herniated disk, spinal compression fracture, spinal narrowing, thoracic outlet syndrome, carpal tunnel syndrome, rheumatoid arthritis, ankle sprain, central post-stroke pain, spine fracture, peripheral neuropathy, plantar fasciitis, foot[nyulangone.org]
Back Pain
  • Recommended reading: Healing Back Pain by Dr. John E. Sarno. He has written a number of books but that one remains my favorite.[cynthiakuni.wordpress.com]
  • About Me Conditions and Treatments back pain, joint pain, musculoskeletal pain, sciatica, neck pain, hip pain, knee injury, muscle strain, degenerative disc disease, spinal cord stimulation, fibromyalgia, injury of the lumbar spine, knee ligament tear[nyulangone.org]
Metatarsalgia
  • The shifting cloud of diagnoses that hung over me included IT Band injury, Neuroma, Greater Trocanteric Bursitis, Shin splints, Metatarsalgia, Sacroiliac joint dysfunction, and Degenerative Disc Disease.[cynthiakuni.wordpress.com]
Premature Balding
  • balding, short trunk, variable musculoskeletal changes (e.g., kyphoscoliosis, joint dislocations, clubbing of fingers) and genitourinary defects (e.g., cryptorchidism).[medical-dictionary.thefreedictionary.com]
Hypertelorism
  • […] bird-headed dwarfism A popular term for Seckel syndrome, an autosomal recessive condition characterised by growth and mental retardation, a beak-like nose, micrognathism, microcephaly, prominent maxilla and eyes, hypertelorism, strabismus, anti-mongoloid[medical-dictionary.thefreedictionary.com]
Distractibility
  • Likewise, your brain can repress an undesirable emotion by distracting you with pain. The mechanism used is the same one as for blushing: the autonomic nervous system. 2. Certain kinds of people get TMS more often than others.[cynthiakuni.wordpress.com]
  • Treatment [ edit ] Treatment is usually confined to such surgical intervention as may be necessary to help the child to develop e.g. jaw distraction/bone grafts, ocular dermoid debulking (see below), repairing cleft palate/lip, repairing heart malformations[en.wikipedia.org]
  • Harp Therapy as a Healing Instrument When used as a form of therapy, the harp's music, paired with its aesthetically pleasing image, can provide comfort, distraction, and relief from anxiety and pain; as well as evoke pleasant associations and memories[practicalpainmanagement.com]
Happy Personality
  • TMS is not about being a happy person. It is not even about stress, though it certainly appears that way sometimes. TMS is about distraction. Curing TMS is about thinking the unthinkable. “Whoa.[cynthiakuni.wordpress.com]
Denial
  • I do not mean this post as a denial of the reader’s personal medical situation. Although I hope that someone will find guidance by reading my story, I do not believe my experience can be applied to everyone.[cynthiakuni.wordpress.com]
Cryptorchidism
  • ., cryptorchidism). Molecular pathology Bird-headed dwarfism is divided into four types based on the gene (or locus if the gene has yet to be identified) found defective.[medical-dictionary.thefreedictionary.com]
Tantrums
  • Child Primitive is rolling on the ground in full tantrum mode: “I don’t want to go! I don’t want to have my worth/skills/strength (insert one) tested! I hate this job! I hate having no power!”[cynthiakuni.wordpress.com]
Palilalia
  • In several patients with atypical disease whose first major symptom was palilalia, psychiatric abnormalities were misinterpreted as the cause of the speech defect.[nejm.org]

Workup

  • In the neonatal SS, the workup for immunodeficiency diseases (neutrophil dysfunction and antibody testing), viral infections (especially HIV), and hematologic diseases should be performed [ 2 ].[hindawi.com]
Acanthocytes
  • Phase-contrast microscopy of whole blood showed 80-90% acanthocytes, confirmed by electron microscopy.[pediatricneurologybriefs.com]
  • Phase-contrast microscopy of whole blood showed 80 to 90% acanthocytes whose morphology was confirmed by electron microscopy. High-resolution lipoprotein electrophoresis demonstrated an absence of the pre-beta fraction.[ncbi.nlm.nih.gov]
  • Thus, defective membrane repair may be the molecular basis for acanthocyte formation in PKAN.[link.springer.com]

Treatment

  • Dystonia provides a practical review of the disorder that emphasizes cost-effective evaluation and treatment and advice on how to apply the current knowledge in clinical practice.[books.google.com]
  • The purpose of this study was to determine if simvastatin treatment would improve clinical outcomes in patients presenting with ARDS irrespective of etiology.[2minutemedicine.com]
  • The original reference is provided for historical interest, and review articles are included to show recent advances in etiology and treatment.[books.google.com]
  • There are treatments that can slow the rate of kidney decline. However, despite such treatment some people still need transplantation or dialysis.[harp3trial.org]
  • Suzanne Jackowski will test Retrophin replacement therapy library for treatment of PKAN, a rare neurodegenerative disease Jude to test for potential use in the treatment of PKAN disease.[medical-dictionary.thefreedictionary.com]

Prognosis

  • Because Stevens-Johnson is so rare that doctors can't give Mull a prognosis, she tells us. But she is warning others, if you do develop any sort of swelling or rash on an antibiotic, don't wait.[fox17online.com]
  • THERAPY, COURSE, AND PROGNOSIS The majority of hydrocytosis patients suffer from significant lifelong anemia.[medtextfree.wordpress.com]

Etiology

  • The original reference is provided for historical interest, and review articles are included to show recent advances in etiology and treatment.[books.google.com]
  • The purpose of this study was to determine if simvastatin treatment would improve clinical outcomes in patients presenting with ARDS irrespective of etiology.[2minutemedicine.com]
  • The etiology of these disorders of cation permeability is unknown.[medtextfree.wordpress.com]
  • Abstract Huntington's disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology.[nature.com]

Epidemiology

  • Relevant External Links for PANK2 Genetic Association Database (GAD) PANK2 Human Genome Epidemiology (HuGE) Navigator PANK2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PANK2 No data available for Genatlas for PANK2 Gene A novel pantothenate[genecards.org]
  • Epidemiology [ edit ] Prevalence ranges from 1 in 3,500 to 5,600 live births.[en.wikipedia.org]
  • Harper PS (1992) The epidemiology of Huntington's disease. Hum Genet 89 : 365–376 4. Stevanin G et al. (2002) CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients. Neurology 58 : 965–967 5.[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • His main research interest is in movement disorders, specifically the merging of clinical, electrophysiological and imaging methods to provide insights into the pathophysiology of conditions like dystonia and Parkinson's disease.[books.google.it]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Neuronal ceroid lipofuscinoses (NCLs) are a subset of lysosomal storage diseases that involve defective cellular processing of[mayomedicallaboratories.com]
  • Ellory JC, Gibson JS, Stewart GW: Pathophysiology of abnormal cell volume in human red cells. Contrib Nephrol 123:220, 1998. 45.[medtextfree.wordpress.com]

Prevention

  • It is to prevent mistakes. It is using physical negative reinforcement to pluck the right string.[ethankind.com]
  • Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎[books.google.es]
  • Because people’s symptoms, health risks, and needs (such as whether you’re trying to prevent pregnancy or get pregnant) vary, so will treatment plans.[refinery29.com]
  • This tendency can do real damage, as when the false claim that vaccines cause autism led parents to refuse shots, causing outbreaks of preventable diseases like measles to occur.[popsci.com]

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