Presentations were further screened by presenting complaint as categorized by the Canadian Emergency Department Information System (CEDIS). [bmcemergmed.biomedcentral.com]

The various findings in these patients increase our understanding of the diversity of the clinical presentation of cholesterol biosynthesis disorders. © 2015 Wiley Periodicals, Inc. [ncbi.nlm.nih.gov]

Some patients may present without chest pain; in one review,2 sudden dyspnea was the sole presenting feature in 4 to 14 percent of patients with acute myocardial infarction. [aafp.org]

Methods: We separately present analysis of data from retrospective files and prospectively recruited patients presenting with TT (35 retrospective and 42 prospective), NSTEMI (48 retrospective and 75 prospective) and STEMI (20 retrospective and 39 prospective [academic.oup.com]

We describe a new patient from the Indian subcontinent who presented with dysmorphism, global developmental delay and epilepsy. We also add left ventricular concentric hypertrophy and sensory neuropathy, which have not been reported previously. [ingentaconnect.com]

• Thin Fingers

  All have distinctive facial features, a thin habitus, and relatively long, thin fingers and toes. Some have scoliosis and kyphosis. Strabismus is common. Optic atrophy is also reported. [ncbi.nlm.nih.gov]

• Almond-Shaped Eyes

  bushy eyebrows XLD SLC9A6 #300243 CK SYNDROME Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes XLR NSDHL #300831 COCKAYNE SYNDROME Pigmentary retinopathy, cataracts, nystagmus, strabismus, optic atrophy, hyperopia, corneal [eyewiki.aao.org]

• Long Narrow Face

  narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. [orpha.net]

• Hyperactivity

  Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. [orpha.net]

  Hyperactivity MedGen UID: 98406 •Concept ID: C0424295 • Finding Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. [ncbi.nlm.nih.gov]

  Patients also have behavior problems, including aggression, attention deficit hyperactivity disorder, and irritability. Some have scoliosis and kyphosis. [genome.jp]

• Irritability

  Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. [orpha.net]

  Patients also have behavior problems, including aggression, attention deficit hyperactivity disorder, and irritability. Some have scoliosis and kyphosis. [genome.jp]

  Irritability MedGen UID: 397841 •Concept ID: C2700617 • Mental Process A proneness to anger, i.e., a condition of being easily bothered or annoyed. [ncbi.nlm.nih.gov]

• Global Developmental Delay

  We describe a new patient from the Indian subcontinent who presented with dysmorphism, global developmental delay and epilepsy. We also add left ventricular concentric hypertrophy and sensory neuropathy, which have not been reported previously. [ingentaconnect.com]

  Global developmental delay MedGen UID: 107838 •Concept ID: C0557874 • Finding A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social [ncbi.nlm.nih.gov]

• Delayed Speech and Language Development

  Delayed speech and language development MedGen UID: 105318 •Concept ID: C0454644 • Finding A degree of language development that is significantly below the norm for a child of a specified age. [ncbi.nlm.nih.gov]

• Muscle Tone Abnormalities

  Generalized hypotonia MedGen UID: 346841 •Concept ID: C1858120 • Finding Generalized muscular hypotonia (abnormally low muscle tone). [ncbi.nlm.nih.gov]

B – Lumbar strain doesn’t require specific treatment or workup. B – Diabetes get diabetic nephropathy. Don’t over-think things. [benwhite.com]

See Workup for more detail. [emedicine.medscape.com]

Despite the widespread acceptance of hsTnT assays as the superior laboratory diagnostic modality for AMI [8], CK continues to be routinely measured alongside hsTnT in the workup of chest pain at many emergency departments. [bmcemergmed.biomedcentral.com]

Biochemical markers will continue to play a traditional role in the workup of MI patients, but they are also developing into an important adjunct for patient decision-making along with the EGG and, most importantly, clinical judgment. [clinchem.aaccjnls.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

See Treatment and Medication for more detail. [emedicine.medscape.com]

"SUNCT, SUNA and pituitary tumors: clinical characteristics and treatment.". Cephalalgia 33 (3): 160-70. doi : 10.1177/0333102412468672. PMID 23197348. [ck-wissen.de]

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]

Prevention, and Complications Prognosis very good to excellent with appropriate medical management, education, and therapy Prevention no known preventive measures are available at this time Complications infertility Please rate topic. [medbullets.com]

The decision to conduct early catheterization for unstable AP primarily depends on whether the patient's prognosis and whether he/she responds to medical therapy. [amboss.com]

Diagnosis, treatment and prognosis of Guillain-Barré syndrome (GBS). Presse Med. 2013 Jun. 42(6 Pt 2):e193-201. [Medline]. [emedicine.medscape.com]

PMID: 36331250 Prognosis Spielmann L, Nespola B, Séverac F, Andres E, Kessler R, Guffroy A, Poindron V, Martin T, Geny B, Sibilia J, Meyer A Ann Rheum Dis 2019 Aug;78(8):1101-1106. Epub 2019 May 24 doi: 10.1136/annrheumdis-2018-214439. [ncbi.nlm.nih.gov]

[…] behavior Delayed speech and language development Global developmental delay Hyperactivity Intellectual disability Irritability Pachygyria Polymicrogyria Seizure Sleep disturbance Ear malformation Posteriorly rotated ears Growth abnormality Slender build Etiology [ncbi.nlm.nih.gov]

(Feb 2009). " SUNCT syndrome responding absolutely to steroids in two cases with different etiologies. ". J Headache Pain 10 (1): 55-7. doi : 10.1007/s10194-008-0080-4. PMID 19020800. [ck-wissen.de]

Experimental biology and medicine (Maywood, N.J.), 231(2): 221-8 [ CR ] [ EČ ][ GS ] Park, J., Seo, M., Gil, H., Yang, J., Lee, E., Hong, S. (2013) Incidence, Etiology, and Outcomes of Rhabdomyolysis in a Single Tertiary Referral Center. [scindeks.ceon.rs]

Non-Mendelian etiologic factors in neuropsychiatric illness: pleiotropy, epigenetics, and convergence. Behav Brain Sci. 2012 Oct; 35(5):363-4. PMID: 23095384. View in: PubMed O'Brien LM, Ziegler DA, Deutsch CK, Frazier JA, Herbert MR, Locascio JJ. [profiles.umassmed.edu]

[…] pericardium Dressler syndrome ( postmyocardial infarction syndrome ) : pericarditis occurring 2–10 weeks post- MI without an infective cause ( pleuritis may also occur) Circulating antibodies against cardiac muscle cells can be detected (autoimmune etiology [amboss.com]

Aim Our objective was to develop and evaluate serological assays applicable in large-scale sero-epidemiological studies. [eurosurveillance.org]

[…] study reported a decreased GBS incidence following administration of tetanus toxoid containing vaccinations when compared with the baseline population [54] An epidemiologic study failed to show any conclusive epidemiologic association between GBS and [emedicine.medscape.com]

Relevant External Links for NSDHL Genetic Association Database (GAD) NSDHL Human Genome Epidemiology (HuGE) Navigator NSDHL Atlas of Genetics and Cytogenetics in Oncology and Haematology: NSDHL No data available for Genatlas for NSDHL Gene Mutations in [genecards.org]

References: [3] Epidemiological data refers to the US, unless otherwise specified. Pathophysiology Unstable plaque development References: [1] [4] Clinical features General symptoms : See also angina pectoris. [amboss.com]

Aetiology and pathophysiology PRIS is thought to be secondary to an imbalance between energy demand and utilization caused by impairment of mitochondrial oxidative phosphorylation and free fatty acid utilization, ultimately leading to lactic acidosis [academic.oup.com]

Propofol infusion syndrome: update of clinical manifestation and pathophysiology. Minerva Anestesiol. 2009 May;75(5):339-44. [lifeinthefastlane.com]

Pathophysiology [ edit ] CHILD syndrome is inherited in an X-linked dominant fashion and is associated with a mutation of the NSDHL gene. [en.wikipedia.org]

The exact pathophysiology of elevated CK in GBS remains poorly understood. [e-jnc.org]

History, pathophysiology, and clinical significance. J Electrocardiol 1995;28:49–58. [8]. Yan GX, Antzelevitch C. Cellular basis for the electrocardiographic J wave. Circulation 1996;93:372–9. [journals.lww.com]

and Complications Prognosis very good to excellent with appropriate medical management, education, and therapy Prevention no known preventive measures are available at this time Complications infertility Please rate topic. [medbullets.com]

Patient Care, Patient Safety, Quality Improvement, Secondary Prevention, Troponin < Back to Listings [acc.org]

Preventing renal failure in patients with rhabdomyolysis: do bicarbonate and mannitol make a difference? J Trauma 2004;56(6):1191-1196. Accepted 17 October 2011. [samj.org.za]

Antihistamines and systemic steroids were not useful to prevent flares. At examination, at distance of a flare, chronic red-brownish plaques were found on the legs, trunk, and back, resembling granuloma annulare. [ijpd.in]

Lastly, cross-training is a great idea for athletes who suspect that they are over-working certain muscles and want to prevent injury. [insidetracker.com]