Archive | April 2016

mitochondrial cytopathy

image.jpgimageMitochondrial cytopathies are clinically and biochemically heterogeneous disorders affecting energy production.

clinically heterogeneous multisystem disease characterized by defects of brain–mitochondrial encephalopathies and/or muscle–mitochondrial myopathies due to alterations in the protein complexes of the electron transport chain of oxidative phosphorylation.

Group 1 Progressive external ophthalmoplegias
• Kearns-Sayre disease Ophthalmoplegia plus syndrome
• Ocular myopathy
• Leber’s hereditary optic neuropathy–due to a point mutation
Group 2 Mitochondrial encephalomyopathies
• Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
• Myoclonus epilepsy with ragged red fibers
• Leigh syndrome
Group 3 Undefined mitochondrial encephalomyopathies, eg congenital lactic acidosis
Group 4 Mitochondrial myopathies
• Luft syndrome
• Enzyme defects, eg ATPase, cytochrome oxidase

source
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

 

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Moebius Syndrome

  • results from the underdevelopment of the VI and VII cranial nerves.
  • The VI cranial nerve controls lateral eye movement, and the VII cranial nerve controls facial expression.
  • rare neurological disorder
  • characterized by weakness or paralysis (palsy) of multiple cranial nerves
  • most often affects the 6th (abducens) and 7th (facial) nerves.
  • The disorder is congenital
  • Other abnormalities include underdevelopment of the pectoral muscles and defects of the limbs.
  • can include bone abnormalities in the hands and feet, weak muscle tone (hypotonia), and hearing loss.
  •  delayed development of motor skills (such as crawling and walking), most eventually acquire these skills.
  • may also be associated with a somewhat increased risk of intellectual disability; however, most affected individuals have normal intelligence.

Lab work 6/60

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A 6/60 is an another term for electrolyte and renal function tests: Na, K, Cl, HCO4, BUN, and creatinine.

The term 6/60 comes from a laboratory analyzer called a Sequential Multiphasic Analyzer 6/60, made originally by the Technicon Instruments Corporation in the US in the 1960s and used for decades afterward. It is an automated multichannel chemical analyzer. Its novelty was that it could do more than one test at a time. The term 6/60 became synonymous with the lab tests done by the machine.

bronchopulmonary dysplasia (BPD)

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  • affects premature infants
  • bronchopulmonary dysplasia (BPD) also called chronic lung disease
  • “Dysplasia” means abnormal changes in the structure or organization of a group of cells.
  • The cell changes in BPD take place in the smaller airways and lung alveoli, making breathing difficult and causing problems with lung function.

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Etiology:

Caused by inflammation and scarring in the lungs

A result of extended respiratory support interventions that are used to manage respiratory distress syndrome such as extended high level oxygen therapy or long duration on a ventilator.

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Prognosis:

  •  most infants fully recover with few long-term health problems
  • BPD can be serious and need intensive medical care.

 

Sources:

https://www.nlm.nih.gov/medlineplus/ency/article/001088.htm

http://kidshealth.org/en/parents/bpd.html