Wilkie's syndrome: a fortuitous finding.
1General Surgery, George Regional Hospital, South Africa.
Summary
Superior mesenteric artery (SMA) syndrome, or Wilkie's syndrome, is a rare duodenal compression condition. Affecting approximately 500 cases globally, its low incidence highlights its rarity in medical literature.
Area of Science:
- Gastroenterology
- Vascular Surgery
- Rare Diseases
Background:
- Superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, involves duodenal compression.
- This occurs between the abdominal aorta and the superior mesenteric artery.
- It is a rare condition with limited documented cases.
Purpose of the Study:
- To summarize the current understanding of SMA syndrome.
- To highlight its rarity and incidence based on available literature.
Main Methods:
- Literature review of documented cases of SMA syndrome.
- Analysis of reported incidence rates from global studies.
Main Results:
- Approximately 500 cases of SMA syndrome have been reported worldwide.
- The reported incidence ranges from 0.013% to 0.3%.
Conclusions:
- SMA syndrome is a rare condition with a low reported incidence.
- The limited number of cases underscores the need for continued awareness and research.
Related Concept Videos
01:33Pleiotropy
43.2K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.2K
02:30Genomic Imprinting and Inheritance
36.8K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
36.8K
01:17Karyotyping
68.1K
Overview
68.1K
01:11Genome-wide Association Studies-GWAS
15.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
15.3K
02:41Lethal Alleles
17.7K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
17.7K
01:29Nondisjunction
81.8K
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
81.8K