Unknown Pseudocholinesterase Deficiency in a Patient Undergoing TIVA with Planned Motor Evoked Potential Monitoring: A Case Report.

Pseudocholinesterase abnormalities are a genetic cause of aberrant metabolism of the depolarizing muscle relaxant succinylcholine. This article examines a case where succinylcholine was chosen to facilitate intubation due to its ultra short duration and the request of the surgeon to monitor motor evoked potentials. Following succinylcholine administration the neurophysiologist was unable to obtain motor evoked potentials. This case study highlights the intraoperative and postoperative management of an elderly patient with an unknown pseudocholinesterase deficiency.

Deconstructing Black Swans: An Introductory Approach to Inherited Metabolic Disorders in the Neonate.

BACKGROUND: Inherited metabolic disorders (IMDs) are individually rare but collectively common disorders that frequently require rapid or urgent therapy. PURPOSE: This article provides a generalized approach to IMDs, as well as some investigations and safe therapies that may be initiated pending the metabolic consult. METHODS/SEARCH STRATEGY: An overview of the research supporting management strategies is provided. In addition, the newborn metabolic screen is reviewed. FINDINGS/RESULTS: Caring for infants with IMDs can seem difficult because each of the types is rarely seen; however, collectively the management can be seen as similar. IMPLICATIONS FOR PRACTICE: When an IMD is suspected, a metabolic specialist should be consulted for expert advice regarding appropriate laboratory investigations and management. Because rapid intervention of IMDs before the onset of symptoms may prevent future irreversible sequelae, each abnormal newborn screen must be addressed promptly. IMPLICATIONS FOR RESEARCH: Management can be difficult. Research in this area is limited and can be difficult without multisite coordination since sample sizes of any significance are difficult to achieve.

Home enteral tube feeding in children with inherited metabolic disorders: a review of long-term carer knowledge and technique.

BACKGROUND: Home enteral tube feeding (HETF) is commonly used in children with inherited metabolic disorders (IMD). It is unclear how caregiver knowledge and their safety in using tube feeding techniques changes over time. METHODS: Caregivers of children with IMD on HETF from one UK IMD centre had annual interviews over 3 years using a structured questionnaire and observation to assess HETF knowledge and safety techniques. RESULTS: Thirty-two caregivers of IMD children (median age 5.3 years; range 0.3-13.6 years) were studied. Seventy-eight percent (n = 25) of subjects had been on HETF for >5 years. Over 3 years, many caregivers' HETF techniques deteriorated: accurate feed ingredient measurement decreased from 36% to 11%; correct flushing of tubes decreased from 56% to 44%; checking tube position as recommended decreased from 72% to 56%; and correct hand washing decreased from 38% to 25%. Despite improvements, knowledge of some aspects remained poorly understood: dangers of incorrect tube placement increased from 41% to 56%; correct position for night feeding increased from 38% to 56%; and feed ingredient storage decreased from 87% to 38%. CONCLUSIONS: The HETF techniques of caregivers of children with IMD declined over time. Caregivers need to understand that HETF, particularly in IMD, is a serious procedure associated with life-threatening risks. Poor HETF practices may cause feed contamination, incorrect feed concentration, feed intolerance, aspiration, peritonitis and even metabolic decompensation. HETF skills should be reassessed annually, with compulsory retraining if basic 'core' HETF competencies are not demonstrated.

Metabolopatias. La importancia de una buena actuación enfermera / Metabolopathies. The importance of a good performance nurse

La detección precoz de las enfermedades metabólicas ha constituido un gran paso a lo largo de la historia médica científica, ya que realizando una buena técnica se pueden diagnosticar enfermedades mejorando su pronóstico. Algunas de ellas son: hipotiroidismo, hiperplasia suprarrenal congénita, hiperfenilalaninemia, hemoglobinopatías y fibrosis quística, entre otras. La muestra se puede recoger de dos modos: la llamada extracción única (al tercer día de vida) o la extracción doble (1ª muestra a las 48 horas de vida y la 2ª muestra a partir del cuarto día de vida). Se debe destacar la importancia de protocolizar una idónea técnica para obtener buenos resultados y no dar lugar a muestras erróneas o falsos positivos(AU)

The possibility for early detection of metabolic disorders has been a big step forward in medical history due to using a good technique by which diseases can be diagnosed, improving their outcome. The main disorders that these tests are designed to detect are hypothyroidism, congenital adrenal hyperplasia, hyperphenylalaninemia, hemoglobinopathies, and cystic fibrosis, among others. Samples can be collected by two methods: the single draw (taken on the third day of life) or the double draw (the first sample is taken at 48 hours of life and the second after the fourth day). It is important to institute a good technique in order to obtain good results and prevent erroneous samples or false positives(AU)

Care of the infant with inherent metabolic disease.

Early detection and prompt management of metabolic crisis are crucial to favourable outcomes in the infant with an inherent metabolic disease for which treatment is available. The nursing role includes monitoring, support and information giving as well as fluid and dietary management. As technology improves, more infants and children will be diagnosed and survive, requiring care from nurses in a wider range of settings.

[Neonatal screening for congenital metabolic pathologies. Ethical and social aspects. Implications for nurses and midwives]. / Cribado neonatal de metabolopatías congénitas. Aspectos eticos y sociales. Implicaciones para enfermeras y matronas.

The authors describe the diseases which are detectable by means of neonatal screening programs available in the different Spanish Autonomous Communities. They analyze some of the ethical and social implications which may occur and they emphasize what those programs mean for nursing professionals, fundamentally midwives and nurses who work in primary health care units or pediatric units.

Cribado neonatal de metabolopatías congénitas. Aspectos éticos y sociales. Implicaciones para enfermeras y matronas / Neonatal screening for congenital metabolic. Pathologies ethical and social aspects. Implications for nurses and midwives

Se describen las enfermedades detectables, mediante los programas de cribado neonatal de las distintas Comunidades Autónomas españolas, analizando algunas de las implicaciones éticas y sociales que pueden presentarse y haciendo hincapié en lo que dichos programas suponen para los profesionales de enfermería, fundamentalmente matronas y enfermeras de asistencia primaria y pediátrica

The authors describe the diseases which are detectable by means of neonatal screening programs available in the different Spanish Autonomous Communities. They analyze some of the ethical and social implications which may occur and they emphasize what those programs mean for nursing professionals, fundamentally midwives and nurses who work in primary health care units or pediatric units

Plasma cholinesterase deficiency.

Plasma cholinesterase (PCE) is an enzyme necessary for the metabolism of certain anesthetic-related medications. Individuals with abnormal cholinesterase activity (e.g., insufficient quantity of functional PCE or atypical PCE genotypes) may exhibit a prolonged paralytic response to the muscle relaxants succinylcholine and mivacurium. A review of perianesthesia nursing considerations and treatment modalities relating to patients presenting with this interesting clinical picture will be offered.

Management and counseling of children with inherited metabolic disorders.

Although rare individually, as a group inborn errors of metabolism are relatively common in the pediatric population. Families need assistance with evaluation and referral, accurate counseling, and management issues. An overview of inherited metabolic disorders is presented, followed by discussion and examples of selected categories of disease.

Newborn screening: the miracle and the challenge.

Modern newborn screening programs are coordinated multi-disorder systems for prevention of infant death and disability, which include statewide infant screening, rapid retrieval, early intervention, and long-term follow-up. Screening programs are dynamic, with new tests being evaluated and added. Because nurses are actively involved in all phases of newborn screening, they must be knowledgeable about each disorder and changing screening requirements. This article reviews basic defects, genetics, incidence, symptoms, treatment, and specific newborn screening requirements for the eight disorders most widely incorporated into statewide newborn screening programs, and discusses practical nursing interventions.