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Journal of Medical Genetics Apr 2023Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS...
BACKGROUND
Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with distinct phenotypes, but our understanding is incomplete, complicated by the rarity of the condition.
METHODS
Genetic and phenotypic characterisation of the largest reported ARS cohort through comprehensive genetic and clinical data analyses.
RESULTS
128 individuals with causative variants in or , including 81 new cases, were investigated. Ocular anomalies showed significant overlap but with broader variability and earlier onset of glaucoma for -related ARS. Systemic anomalies were seen in all individuals with -related ARS and the majority of those with -related ARS. -related ARS demonstrated typical umbilical anomalies and dental microdontia/hypodontia/oligodontia, along with a novel high rate of Meckel diverticulum. -related ARS exhibited characteristic hearing loss and congenital heart defects as well as previously unrecognised phenotypes of dental enamel hypoplasia and/or crowding, a range of skeletal and joint anomalies, hypotonia/early delay and feeding disorders with structural oesophageal anomalies in some. Brain imaging revealed highly penetrant white matter hyperintensities, colpocephaly/ventriculomegaly and frequent arachnoid cysts. The expanded phenotype of -related ARS identified here was found to fully overlap features of De Hauwere syndrome. The results were used to generate gene-specific management plans for the two types of ARS.
CONCLUSION
Since clinical features of ARS vary significantly based on the affected gene, it is critical that families are provided with a gene-specific diagnosis, -related ARS or -related ARS. De Hauwere syndrome is proposed to be a FOXC1opathy.
Topics: Humans; Homeodomain Proteins; Transcription Factors; Anterior Eye Segment; Eye Abnormalities; Forkhead Transcription Factors; Mutation
PubMed: 35882526
DOI: 10.1136/jmg-2022-108646 -
Journal of Nuclear Medicine Technology Sep 2020: For CE credit, you can access the test for this article, as well as additional JNMT CE tests, online at https://www.snmmilearningcenter.org Complete the test online no... (Review)
Review
: For CE credit, you can access the test for this article, as well as additional JNMT CE tests, online at https://www.snmmilearningcenter.org Complete the test online no later than September 2023. Your online test will be scored immediately. You may make 3 attempts to pass the test and must answer 80% of the questions correctly to receive 1.0 CEH (Continuing Education Hour) credit. SNMMI members will have their CEH credit added to their VOICE transcript automatically; nonmembers will be able to print out a CE certificate upon successfully completing the test. The online test is free to SNMMI members; nonmembers must pay $15.00 by credit card when logging onto the website to take the test.
Topics: Artifacts; Humans; Image Interpretation, Computer-Assisted; Meckel Diverticulum; Molecular Imaging; Patient Education as Topic
PubMed: 32883776
DOI: 10.2967/jnmt.120.251918 -
Cureus May 2021Meckel's diverticulum is the most common congenital anomaly of the small intestine. It is a true diverticulum containing all layers of the intestinal wall and results...
Meckel's diverticulum is the most common congenital anomaly of the small intestine. It is a true diverticulum containing all layers of the intestinal wall and results from the incomplete resolution of the omphalomesenteric duct. The majority of the cases are asymptomatic; however, diagnostic challenges arise when it becomes inflamed, causes gastrointestinal hemorrhage, intestinal obstruction, or when it protrudes through a potential abdominal opening (Littre's hernia). We present a rare case of strangulated Meckel's diverticulum as a result of axial torsion presenting with right lower quadrant abdominal pain.
PubMed: 34094771
DOI: 10.7759/cureus.14817 -
Academic Pathology 2022
PubMed: 35600744
DOI: 10.1016/j.acpath.2022.100014 -
Ugeskrift For Laeger Apr 2024Meckel's diverticulum is the most common congenital gastrointestinal defect with a prevalence of 2%. It is mostly asymptomatic and it rarely causes acute abdomen in...
Meckel's diverticulum is the most common congenital gastrointestinal defect with a prevalence of 2%. It is mostly asymptomatic and it rarely causes acute abdomen in adults. In this case report, a 28-year-old male with no previous abdominal surgery presented with clinical symptoms of small bowel obstruction. Surgery revealed a Meckel's diverticulum adherent to the abdominal wall, causing internal herniation with small bowel obstruction. The diverticulum was openly resected and no post-operative complications occurred. Laparoscopy seems safe, and surgical removal of the symptomatic Meckel's diverticulum is recommended.
Topics: Humans; Meckel Diverticulum; Adult; Male; Ileus; Tomography, X-Ray Computed; Intestinal Obstruction
PubMed: 38704710
DOI: 10.61409/V10230632 -
Journal of Nuclear Medicine Technology Sep 2020
Topics: Diagnostic Imaging; Humans; Image Processing, Computer-Assisted; Meckel Diverticulum
PubMed: 32883774
DOI: 10.2967/jnmt.120.244137 -
Journal of Imaging Jun 2023Gastrointestinal (GI) disorders comprise a diverse range of conditions that can significantly reduce the quality of life and can even be life-threatening in serious... (Review)
Review
Gastrointestinal (GI) disorders comprise a diverse range of conditions that can significantly reduce the quality of life and can even be life-threatening in serious cases. The development of accurate and rapid detection approaches is of essential importance for early diagnosis and timely management of GI diseases. This review mainly focuses on the imaging of several representative gastrointestinal ailments, such as inflammatory bowel disease, tumors, appendicitis, Meckel's diverticulum, and others. Various imaging modalities commonly used for the gastrointestinal tract, including magnetic resonance imaging (MRI), positron emission tomography (PET) and single photon emission computed tomography (SPECT), and photoacoustic tomography (PAT) and multimodal imaging with mode overlap are summarized. These achievements in single and multimodal imaging provide useful guidance for improved diagnosis, staging, and treatment of the corresponding gastrointestinal diseases. The review evaluates the strengths and weaknesses of different imaging techniques and summarizes the development of imaging techniques used for diagnosing gastrointestinal ailments.
PubMed: 37367463
DOI: 10.3390/jimaging9060115