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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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Reporting and recording are crucial in data documentation. The timely, thorough, and accurate documentation of facts is essential when recording patient data. Failure to record findings during an assessment or interpretation of a problem will result in loss of information and make the patient document unreliable. The reader is left with general impressions if the information is not specific. A recording is documenting data of the individual's health information in a traceable, secure, and...
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Anesthesia is a medical procedure that uses drugs for CNS suppression to enable painless surgeries and procedures. The selection of anesthetics is influenced by their pharmacokinetic properties, side effects, and patient characteristics. Various types of anesthesia include general, local, regional, spinal, and inhalational.
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Anesthesia for patients with PTRF mutations: a case report.

Atsuko Hirano1, Tomohiko Takada2, Mariko Senda2

  • 1Department of Anesthesiology, Tokyo Metropolitan Bokutoh Hospital, 4-23-15 Kotobashi, Sumida-ku, Tokyo, 130-8575, Japan. atsuko_handa@tmhp.jp.

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|February 20, 2018
PubMed
Summary

Anesthesia for patients with Polymerase I and transcript release factor (PTRF) mutations requires careful planning. A lipid-free, non-inhalational anesthetic approach proved safe and effective for a patient with PTRF mutations undergoing minor surgery.

Keywords:
General anesthesiaLipodystrophyLong QT syndromeMalignant hyperthermiaNeuromuscular diseasePTRF mutation

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Area of Science:

  • Anesthesiology
  • Genetics
  • Metabolic Disorders

Background:

  • Polymerase I and transcript release factor (PTRF) mutations cause a rare genetic disorder.
  • This disorder is characterized by congenital generalized lipodystrophy and myopathy.
  • Patients often present with complex comorbidities including long QT syndrome and abnormal lipid metabolism.

Purpose of the Study:

  • To describe the anesthetic management of a patient with a PTRF mutation.
  • To evaluate the safety and efficacy of a specific anesthetic technique in this patient population.

Main Methods:

  • A 29-year-old male patient with a confirmed PTRF mutation underwent mandibular dentigerous cystectomy.
  • Anesthesia involved continuous dexmedetomidine infusion, midazolam, remifentanil, and rocuronium.
  • Local anesthesia was supplemented with titrated dexmedetomidine and remifentanil throughout the procedure.
  • Dexmedetomidine and remifentanil were titrated throughout the surgery, with reversal agents administered at the end.

Main Results:

  • The surgical procedure was performed without complications.
  • The patient was successfully extubated post-operatively.
  • Vital signs and bispectral index were monitored throughout the surgery.

Conclusions:

  • Patients with PTRF mutations necessitate meticulous anesthetic planning due to their complex medical profiles.
  • A lipid-free, non-inhalational anesthetic strategy is a viable and safe option for minor surgical procedures in these patients.
  • This case highlights the successful application of a tailored anesthetic approach for a patient with rare genetic lipodystrophy and myopathy.