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Data Reporting and Recording01:24

Data Reporting and Recording

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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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Types of Reports I: Hands-off Report01:25

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Types of Reports II: Incident or Occurrence Report01:21

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An Incident or Occurrence Report in a healthcare setting is a crucial document used to record any unexpected occurrence that may or may not have affected a patient, employee, or visitor. Such reports are critical to improving patient safety and include all details leading up to and including the event.
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Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
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Types of Reports III: Telephone and Verbal Reports01:26

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Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
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16p11.2 microdeletion syndrome: a case report.

D Dell'Edera1, C Dilucca2, A Allegretti3

  • 1Unit of Cytogenetic and Molecular Genetics, "Madonna delle Grazie" Hospital, 75100, Matera, Italy. domenicodelledera68@gmail.com.

Journal of Medical Case Reports
|April 4, 2018
PubMed
Summary
This summary is machine-generated.

The 16p11.2 microdeletion, a genetic cause of autism spectrum disorder, can present with variable symptoms. This case shows a daughter with growth issues, unlike her mother, highlighting phenotypic diversity in 16p11.2 deletion syndrome.

Keywords:
16p11.2 microdeletion syndromeCGH-arrayDevelopmental delayIntellectual disabilitySubmicroscopic chromosomal changes

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • The 16p11.2 microdeletion is a known genetic cause of autism spectrum disorder (ASD) and other neurodevelopmental disorders.
  • This recurrent deletion is associated with conditions such as overweightness.

Observation:

  • A 2-year-old girl presented with poor height and weight development and anorexia.
  • Genetic analysis revealed a 600 kb deletion in the 16p11.2 region, inherited from her mother.

Findings:

  • The microdeletion in the daughter presented with growth failure and anorexia, contrasting with the typical association with overweightness.
  • Phenotypic variability was observed between the mother and daughter, despite both carrying the 16p11.2 deletion.

Implications:

  • This case expands the known phenotypic spectrum associated with the 16p11.2 microdeletion.
  • Highlights the importance of clinical evaluation of the proband and family history to understand variable genetic conditions.
  • Emphasizes the need to consider familial genetic pathologies with diverse clinical outcomes.