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Related Concept Videos

Assessment of apical radial pulse01:25

Assessment of apical radial pulse

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Apical-Radial (A-R) Pulse Assessment
The A-R pulse assessment involves simultaneous evaluation of the apical and radial pulses. When the apical and radial pulse rates vary, this assessment helps identify a pulse deficit.
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Assessment of radial pulse01:11

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Assessment of Radial Pulse
The radial pulse, located at the wrist, is often the preferred site for assessing peripheral pulse because of its accessibility and dependability. The process of determining the radial pulse involves several steps:
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Deformation in a Circular Shaft01:10

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One of the distinctive characteristics of circular shafts is their ability to maintain their cross-sectional integrity under torsion. In other words, each cross-section continues to exist as a flat, unaltered entity, simply rotating like a solid, rigid slab. To understand the distribution of shearing stress within such a shaft, consider a cylindrical section inside this circular shaft. This section has a length of L and a radius of R, with one end fixed. The radius of the cylindrical section is...
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Imaging Studies for Cardiovascular System III: X-Ray01:20

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The most common cardiovascular diagnostic test is an X-ray. It produces images of the heart, blood vessels, and adjacent structures.
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Creating Radio-cephalic Arteriovenous Fistula in the Forearm with a Modified No-Touch Technique
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Associated Anomalies in Radial Ray Deficiency.

Claude Stoll1, Yves Alembik1, Marie-Paule Roth1

  • 1Faculté de Médecine, Laboratoire de Génétique Médicale, Strasbourg, France.

American Journal of Medical Genetics. Part A
|September 24, 2024
PubMed
Summary
This summary is machine-generated.

Radial ray deficiency (RRD) frequently co-occurs with other congenital anomalies. This study found 75.9% of RRD cases had associated conditions, including chromosomal abnormalities and syndromes.

Keywords:
congenital anomalieslimb anomalieslimb reduction defectsmultiple congenital anomaliesradial ray deficiency

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Public Health

Background:

  • Radial ray deficiency (RRD) is a spectrum of congenital anomalies affecting the thumb and forearm.
  • The occurrence of RRD alongside other congenital anomalies is variable and not well-characterized.
  • Understanding co-occurring anomalies is crucial for comprehensive patient management.

Purpose of the Study:

  • To determine the prevalence and types of congenital anomalies co-occurring with RRD.
  • To analyze these co-occurring anomalies within a large, defined population.
  • To provide data for improved clinical assessment of RRD cases.

Main Methods:

  • Population-based cohort study in northeastern France (1979-2007).
  • Inclusion of live births, stillbirths, and terminations of pregnancy.
  • Ascertainment of 83 RRD cases from 387,067 births, with detailed analysis of co-occurring conditions.

Main Results:

  • The prevalence of RRD was 2.14 per 10,000 births.
  • A significant proportion (75.9%) of RRD cases exhibited co-occurring anomalies.
  • Common co-occurring conditions included chromosomal abnormalities (e.g., Trisomy 18), syndromic conditions (e.g., TAR syndrome, VACTERL association), and multiple congenital anomalies (MCA) affecting various organ systems.

Conclusions:

  • Radial ray deficiency often presents with associated congenital anomalies, necessitating thorough investigation.
  • A multidisciplinary approach is recommended for the evaluation and management of individuals with RRD.
  • This study highlights the importance of population-based data for understanding the spectrum of RRD.