Etiology and Anatomical Variation in Treacher Collins Syndrome

2022 ◽  
pp. 285-296
Author(s):  
Francis Joel Smith
Keyword(s):  
Anatomical Variation ◽  
Treacher Collins Syndrome

Carotid endarterectomy in patients with foetal-type posterior circle of Willis: Is there an indication for local anaesthesia?

VASA ◽  
2011 ◽  
Vol 40 (5) ◽  
pp. 404-407
Author(s):  
Maras ◽  
Tzormpatzoglou ◽  
Papas ◽  
Papanas ◽  
Kotsikoris ◽  
...  
Keyword(s):  
Carotid Endarterectomy ◽  
Local Anaesthesia ◽  
Anatomical Variation ◽  
Anatomical Variations ◽  
Circle Of Willis ◽  
Variable Degree ◽  
Operative Complications ◽  
The Right ◽  
Ica Stenosis ◽  
Symptomatic Stenosis

Foetal-type posterior circle of Willis is a common anatomical variation with a variable degree of vessel asymmetry. In patients with this abnormality, carotid endarterectomy (CEA) may create cerebral hypo-perfusion intraoperatively, and this may be underestimated under general anaesthesia. There is currently no evidence that anatomical variations in the circle of Willis represent an independent risk factor for stroke. Moreover, there is a paucity of data on treating patients with such anatomical variations and co-existing ICA stenosis. We present a case of CEA under local anaesthesia (LA) in a 52-year-old female patient with symptomatic stenosis of the right ICA and coexistent foetal-type posterior circle of Willis. There were no post-operative complications and she was discharged free from symptoms. She was seen again 3 months later and was free from complications. This case higlights that LA should be strongly considered to enable better intra-operative neurological monitoring in the event of foetal-type posterior circle of Willis.

Palmar Musculature: Does It Affect the Development of Carpal Tunnel Syndrome? A Pilot Study

2021 ◽  
Author(s):  
Trevor Simcox ◽  
Lauren Seo ◽  
Kevin Dunham ◽  
Shengnan Huang ◽  
Catherine Petchprapa ◽  
...  
Keyword(s):  
Carpal Tunnel Syndrome ◽  
Correlation Coefficient ◽  
Carpal Tunnel ◽  
Case Control Study ◽  
Anatomical Variation ◽  
Case Control ◽  
Transverse Carpal Ligament ◽  
Large Variability ◽  
Tunnel Syndrome ◽  
Control Study

Abstract Background The etiology of carpal tunnel syndrome (CTS) is multifactorial. Static mechanical characteristics of CTS have been described, but dynamic (muscular) parameters remain obscure. We believe that musculature overlying the transverse carpal ligament may have an effect on carpal tunnel pressure and may explain the prevalence of CTS in manual workers. Questions/Purposes To utilize magnetic resonance imaging (MRI) imaging to estimate the amount of muscle crossing the area of the carpal tunnel and to compare these MRI measurements in patients with and without documented CTS. Methods A case–control study of wrist MRI scans between January 1, 2018, and December 1, 2019, was performed. Patients with a diagnosis of CTS were matched by age and gender with controls without a diagnosis of CTS. Axial MRI cuts at the level of the hook of the hamate were used to measure the thenar and hypothenar muscle depth overlying the carpal tunnel. Muscle depth was quantified in millimeters at three points: midcapitate, capitate–hamate border, capitate–trapezoid border. Average depth was calculated by dividing the cross-sectional area (CSA) by the transverse carpal ligament width. Statistical analysis included Student's t-test, chi-square test, and Pearson's correlation coefficient calculation. Results A total of 21 cases and 21 controls met the inclusion criteria for the study. There were no significant differences in demographics between case and control groups. The location and depth of the musculature crossing the carpal tunnel were highly variable in all areas evaluated. A significantly positive correlation was found between proximal median nerve CSA and muscle depth in the capitate–hamate area (correlation coefficient = 0.375; p = 0.014). CSA was not significantly associated with chart documented CTS. Conclusions We found large variability in our measurements. This likely reflects true anatomical variation. The significance of our findings depends on the location of the muscles and the line of pull and their effect on the mechanics of the transverse carpal ligament. Future research will focus on refining measurement methodology and understanding the mechanical effect of the muscular structure and insertions on carpal tunnel pressure. Level of Evidence This is a Level 3, case–control study.

Pseudo-endocarditis secondary to ruptured posteromedial papillary muscle with anatomical variation: A Case Report

2020 ◽  
pp. 179
Author(s):  
Keyword(s):  
Myocardial Infarction ◽  
Mitral Valve ◽  
Papillary Muscle ◽  
Anatomical Variation ◽  
Low Grade ◽  
Papillary Muscle Rupture ◽  
Atypical Chest Pain ◽  
Anatomical Variant ◽  
Muscle Rupture ◽  
Mitral Valve Vegetation

Myocardial infarction is the leading cause of papillary muscle rupture. This complication occurs in up to 5% of cases post MI and although rare, it constitutes a cardiac emergency if left untreated. On this basis, a 59-year-old male presented with low-grade fever and atypical chest pain with raised inflammatory markers and troponin levels. He was treated for infective endocarditis after echocardiography revealed a mass on the mitral valve, which was presumed to be a mitral valve vegetation and so he completed a 6-weeks course of antibiotics followed by elective mitral valve replacement surgery. During surgery, it was discovered that there was no endocarditis. Instead an unusually small muscle head of one of the posteromedial papillary muscle groups had ruptured secondary to an inferior myocardial infarction. This ruptured muscle head was highly mobile and mimicked a mitral valve vegetation. The mitral valve was successfully repaired, and the right coronary artery grafted. He made a full recovery but developed new-onset atrial fibrillation for which he is awaiting elective cardioversion. One should have a high index of suspicion for diagnosing papillary muscle rupture as it may mimic valvular vegetation on echocardiography, especially if the papillary muscle involved is an anatomical variant.

Echographic characteristics of the malformations associated with abnormal urorectal septum development

2017 ◽  
Author(s):  
A.M. Stygar , S.I. Buryakova , Yu.I. Kucherov ey all
Keyword(s):  
Prenatal Diagnosis ◽  
Anatomical Variation

Three cases of prenatal diagnosis of malformations associated with abnormal urorectal septum development were presented at 12, 20 and 31 weeks of gestation. The difficulty to diagnose this group of malformations is reported to depend on the characteristics of the echographic pattern at various stages of pregnancy due to a complex multi-system anatomical variation.

Obstructive uropathy in the context of ureteroinguinal hernia: experience of challenges in surgical management of an unwell patient

2020 ◽  
Vol 13 (8) ◽  
pp. e235060
Author(s):  
Mitchell Egerton Barns ◽  
Arvind Vasudevan ◽  
Emma Lucy Marsdin
Keyword(s):  
Obstructive Uropathy ◽  
Anatomical Variation ◽  
Surgical Patients ◽  
Definitive Treatment ◽  
Ureteric Stent ◽  
Common Presentation ◽  
Iatrogenic Damage ◽  
Vesicoureteric Junction ◽  
Collecting System

This case exemplifies an unusual anatomical variation of a common presentation and highlights the importance of perioperative diagnosis and planning in complex surgical patients. A 72-year-old comorbid man presented to the emergency department with an infected obstructed right kidney secondary to an obstructing 12 mm vesicoureteric junction calculi. However, imaging also showed concurrent ureteroinguinal hernia associated with a 130 cm-long ureter, too long for conventional treatment with a ureteric stent. Acutely, the patient’s collecting system was decompressed via nephrostomy, but due to the rarity of this anatomical variation, definitive treatment had to be rethought to help reduce the risk of iatrogenic damage and the associated long-term complications.

A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome

2021 ◽  
Vol 141 ◽  
pp. 110561
Author(s):  
Haisheng Zeng ◽  
Mingyu Xie ◽  
Jianbo Li ◽  
Haoqiang Xie ◽  
Xiaomei Lu
Keyword(s):  
Nonsense Mutation ◽  
Treacher Collins Syndrome

scholarly journals Extended endoscopic frontal nasal sinus surgery in management of chronic and recurrent frontal sinus diseases

2021 ◽  
Vol 37 (1) ◽  
Author(s):  
Ahmed Sobhi Abdelaal ◽  
Mohamed Kamel Al Awady ◽  
Tawfik Abdelaty Elkholy
Keyword(s):  
Frontal Sinus ◽  
Anatomical Variation ◽  
Sinus Surgery ◽  
Frontal Sinusitis ◽  
Office Visits ◽  
Nasal Sinus ◽  
Frontal Sinus Surgery ◽  
Operative Care ◽  
Intimate Relation

Abstract Background The anatomical variation of the frontal sinus and its intimate relation to the skull base and orbit makes its surgery demanding. The extended endoscopic frontal sinus surgery allows wide better drainage and preventing the recurrence of the disease. Fourteen patients underwent EEFSS from May 2017 to May 2019. These patients are nine patients presented by chronic recurrent frontal sinusitis, three patients presented by chronic recurrent fronto ethmoidal mucocele and two patients with chronic recurrent external frontal fistula. Draff III done for ten patients of them and Draff IIB done for four patients of them. This study is designed for evaluating the efficacy of the extended endoscopic frontal sinus surgery (E E F S S) in management of chronic and recurrent frontal sinus diseases. Results The neo opening of the restored frontal sinus was remained opened with Draff III with high success rate; two patients from four patients with Draff IIb were with closed nasofrontal duct. The main follow-up was 12 months; the patients were followed up post-operatively for many office visits without any other manifestations. Conclusion The chronic recurrent frontal sinus diseases can be treated successfully with extended endoscopic frontal sinus surgery (E E F S S). The extended endoscopic frontal sinus surgery (Draff III) provides good results with low morbidity and less post-operative care.

Sign in / Sign up

Export Citation Format

Share Document