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]

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]

Acronym CKS Synonyms Mental retardation X-linked with thin body habitus and cortical malformation Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

[…] intellectual disability-microcephaly-cortical malformation-thin habitus syndrome Prevalence: Inheritance: X-linked recessive Age of onset: Infancy, Neonatal ICD-10: - OMIM: 300831 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

• Short Stature

  An autosomal recessive disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. [nectarmutation.org]

• Osteopenia

  An autosomal recessive disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. [nectarmutation.org]

• Joint Limitation

  It is distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations. [ read more ] 12881513 15523624 [nectarmutation.org]

• Almond-Shaped Eyes

  […] constriction XLD CHM #303100 CHRISTIAN SYNDROME Cranial nerve VI palsy X-linked - %309620 CHRISTIANSON SYNDROME Ophthalmoplegia, deep-set eyes, bushy eyebrows XLD SLC9A6 #300243 CK SYNDROME Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped [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]

  Attention deficits, Attention-Deficit Hyperactivity Disorder, and intellectual disabilities. Dev Disabil Res Rev. 2008; 14(4):285-92. PMID: 19072752. View in: PubMed Charlot L, Deutsch CK, Albert A, Hunt A, Connor DF, McIlvane WJ. [profiles.umassmed.edu]

• 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]

  Other signs include: Lethargy Mild leg soreness Muscle and joint pain Headaches Moodiness and irritability Decreased appetite Sudden drop in performance Compromised immune system, which results in an increased number of colds Increased number of injuries [insidetracker.com]

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

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

• Sinus Arrest

  Sinus arrest. The sinus node activity pauses, causing skipped beats. Bradycardia-tachycardia syndrome. The heart rate alternates between abnormally fast and slow rhythms, usually with a long pause (asystole) between heartbeats. [mayoclinic.org]

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

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]

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]

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

It occurs transiently in about 1% of hospitalized patients and indicates a poor prognosis, except in children. 6 Characteristic Findings in Patients With Macro CK* Type 1 Type 2 *Adapted from Lee KN, Csako G, Bernhardt P, Elin RJ. [labcorp.com]

(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]

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]

Etiology GBS is considered to be a postinfectious, immune-mediated disease targeting peripheral nerves. [emedicine.medscape.com]

[…] 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]

[…] lovastatin tablets 5g (10-20-40-80 mg); mix with cholesterol NF powder (NDC# 51927-1203-00, PCCA) 5g; mix with preserved water while mixing (eventually mixing for 1/2 hour with electronic mortar and pestle) to bring to full volume with preserved water. 8 oz Epidemiology [en.wikipedia.org]

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]

Centers for Disease Control and Prevention. Available at . 2016 Feb 11; Accessed: 2016 Feb 12. Souayah N, Nasar A, Suri MF, Qureshi AI. [emedicine.medscape.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]