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Pediatrics International : Official... 2024
Topics: Humans; Intestinal Volvulus; Rubinstein-Taybi Syndrome; Ileal Diseases; Male; Cecal Diseases; Female
PubMed: 38780194
DOI: 10.1111/ped.15762 -
Techniques in Hand & Upper Extremity... Jun 2024Syndactyly release aims to address skin deficits by resurfacing web spaces and sides of digits to allow independent digital motion while minimizing the risk of web creep...
Syndactyly release aims to address skin deficits by resurfacing web spaces and sides of digits to allow independent digital motion while minimizing the risk of web creep and scar contractures. Conventional methods include the use of a dorsal and interdigitating flaps with full-thickness skin grafts. More recently, there have been several descriptions of "graftless" syndactyly release without skin grafts, thus avoiding a further (usually distant) donor site. However, the indications of when and when not to use these techniques remain unclear. In addition, the inevitable scarring from extra recruitment of local adjacent skin is perhaps underemphasized. In this article, we revisit the trilobed flap technique which serves to balance the amount of skin needed for resurfacing digits while minimizing local donor site scarring. The geometry and nuances of the flap inset are illustrated in detail to guide those embarking on this technique. The trilobed syndactyly release technique is a reproducible, safe, and reliable method for the release of simple syndactyly.
Topics: Humans; Syndactyly; Surgical Flaps; Cicatrix
PubMed: 38764415
DOI: 10.1097/BTH.0000000000000472 -
The Kurume Medical Journal Jul 2024In general anesthesia for Klippel-Feil syndrome (KFS) patients, there is a potential risk of difficult intubation. However, airway assessment to predict difficult...
In general anesthesia for Klippel-Feil syndrome (KFS) patients, there is a potential risk of difficult intubation. However, airway assessment to predict difficult intubation for KFS patients is not known. In Patient 1, cervical spine computed tomography (CT) revealed airway compression due to cervical fusion. For airway assessment, bronchofiberscopy, three-dimensional (3-D) CT, and virtual bronchoscopic image (VBI) construction were performed. Based on these images, fiberoptic nasotracheal awake intubation was performed. In Patient 2, magnetic resonance imaging and bronchofiberscopy showed no airway compression due to cervical fusion; therefore, tracheal intubation was performed using a video laryngoscope after anesthetic administration. Airway compression due to cervical fusion is considered one of the risk factors for difficult intubation in KFS patients.
Topics: Humans; Klippel-Feil Syndrome; Intubation, Intratracheal; Cervical Vertebrae; Tomography, X-Ray Computed; Male; Bronchoscopy; Female; Magnetic Resonance Imaging; Adult; Imaging, Three-Dimensional; Airway Obstruction; Fiber Optic Technology; Anesthesia, General; Laryngoscopy; Middle Aged
PubMed: 38763739
DOI: 10.2739/kurumemedj.MS7012009 -
Orphanet Journal of Rare Diseases May 2024Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism. This condition often requires surgical...
BACKGROUND
Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism. This condition often requires surgical correction for morphological and functional indications. Metopic ridges also originate from premature metopic closure but are only associated with mid-frontal bulging; their surgical correction is rarely required. Differential diagnosis between these two conditions can be challenging, especially in minor trigonocephaly.
METHODS
Two hundred seven scans of patients with trigonocephaly (90), metopic rigdes (27), and controls (90) were collected. Geometric morphometrics were used to quantify skull and orbital morphology as well as the interfrontal angle and the cephalic index. An innovative method was developed to automatically compute the frontal curvature along the metopic suture. Different machine-learning algorithms were tested to assess the predictive power of morphological data in terms of classification.
RESULTS
We showed that control patients, trigonocephaly and metopic rigdes have distinctive skull and orbital shapes. The 3D frontal curvature enabled a clear discrimination between groups (sensitivity and specificity > 92%). Furthermore, we reached an accuracy of 100% in group discrimination when combining 6 univariate measures.
CONCLUSION
Two diagnostic tools were proposed and demonstrated to be successful in assisting differential diagnosis for patients with trigonocephaly or metopic ridges. Further clinical assessments are required to validate the practical clinical relevance of these tools.
Topics: Humans; Craniosynostoses; Female; Male; Infant; Imaging, Three-Dimensional; Skull
PubMed: 38762603
DOI: 10.1186/s13023-024-03197-8 -
Nature Biotechnology May 2024
Topics: Humans; Long QT Syndrome; Autistic Disorder; Syndactyly; Genetic Therapy; Mutation
PubMed: 38760554
DOI: 10.1038/s41587-024-02258-4 -
European Journal of Human Genetics :... Jul 2024Carpenter syndrome (CRPTS) is a rare autosomal recessive condition caused by biallelic variants in genes that encode negative regulators of hedgehog signalling (RAB23...
Carpenter syndrome (CRPTS) is a rare autosomal recessive condition caused by biallelic variants in genes that encode negative regulators of hedgehog signalling (RAB23 [CRPT1] or, more rarely, MEGF8 [CRPT2]), and is characterised by craniosynostosis, polysyndactyly, and other congenital abnormalities. We describe a further six families comprising eight individuals with MEGF8-associated CRPT2, increasing the total number of reported cases to fifteen, and refine the phenotype of CRPT2 compared to CRPT1. The core features of craniosynostosis, polysyndactyly and (in males) cryptorchidism are almost universal in both CRPT1 and CRPT2. However, laterality defects are present in nearly half of those with MEGF8-associated CRPT2, but are rare in RAB23-associated CRPT1. Craniosynostosis in CRPT2 commonly involves a single midline suture in comparison to the multi-suture craniosynostosis characteristic of CRPT1. No patient to date has carried two MEGF8 gene alterations that are both predicted to lead to complete loss-of-function, suggesting that a variable degree of residual MEGF8 activity may be essential for viability and potentially contributing to variable phenotypic severity. These data refine the phenotypic spectrum of CRPT2 in comparison to CRPT1 and more than double the number of likely pathogenic MEGF8 variants in this rare disorder.
Topics: Humans; Male; Phenotype; Female; Acrocephalosyndactylia; Child; Child, Preschool; Infant; rab GTP-Binding Proteins; Pedigree; Membrane Proteins; Adolescent; Mutation
PubMed: 38760421
DOI: 10.1038/s41431-024-01624-9 -
Human Genetics Jun 2024Histone deacetylases (HDACs) are enzymes pivotal for histone modification (i.e. acetylation marks removal), chromatin accessibility and gene expression regulation. Class...
Histone deacetylases (HDACs) are enzymes pivotal for histone modification (i.e. acetylation marks removal), chromatin accessibility and gene expression regulation. Class I HDACs (including HDAC1, 2, 3, 8) are ubiquitously expressed and they often participate in multi-molecular protein complexes. To date, three neurodevelopmental disorders caused by mutations in genes encoding for HDACs (HDAC4, HDAC6 and HDAC8) and thus belonging to the group of chromatinopathies, have been described. We performed whole exome sequencing (WES) for a patient (#249) clinically diagnosed with the chromatinopathy Rubinstein-Taybi syndrome (RSTS) but negative for mutations in RSTS genes, identifying a de novo frameshift variant in HDAC2 gene. We then investigated its molecular effects in lymphoblastoid cell lines (LCLs) derived from the patient compared to LCLs from healthy donors (HD). As the variant was predicted to be likely pathogenetic and to affect the sequence of nuclear localization signal, we performed immunocytochemistry and lysates fractionation, observing a nuclear mis-localization of HDAC2 compared to HD LCLs. In addition, HDAC2 total protein abundance resulted altered in patient, and we found that newly identified variant in HDAC2 affects also acetylation levels, with significant difference in acetylation pattern among patient #249, HD and RSTS cells and in expression of a known molecular target. Remarkably, RNA-seq performed on #249, HD and RSTS cells shows differentially expressed genes (DEGs) common to #249 and RSTS. Interestingly, our reported patient was clinically diagnosed with RSTS, a chromatinopathy which known causative genes encode for enzymes antagonizing HDACs. These results support the role of HDAC2 as causative gene for chromatinopathies, strengthening the genotype-phenotype correlations in this relevant group of disorders.
Topics: Humans; Histone Deacetylase 2; Exome Sequencing; Acetylation; Rubinstein-Taybi Syndrome; Chromatin; Male; Female; Mutation; Frameshift Mutation; Cell Line
PubMed: 38753158
DOI: 10.1007/s00439-024-02675-0 -
BMJ Case Reports May 2024The duplicated origin of the vertebral artery (VA) is an uncommon anatomical variant, which is generally identified incidentally during angiography and can be...
The duplicated origin of the vertebral artery (VA) is an uncommon anatomical variant, which is generally identified incidentally during angiography and can be misdiagnosed as dissection in the setting of posterior circulation stroke. Here, we describe a case of the right V1 VA duplication with embryological aspects in a patient with Klippel-Feil anomaly, which was diagnosed during preoperative evaluation. Surgeons must be aware to avoid vascular injury from a duplicated VA before head-neck and spinal surgery.
Topics: Humans; Klippel-Feil Syndrome; Vertebral Artery; Male; Adult; Computed Tomography Angiography; Female
PubMed: 38749522
DOI: 10.1136/bcr-2024-260605 -
Clinical Neurology and Neurosurgery Jul 2024Craniosynostosis, a developmental craniofacial anomaly, can impair brain development and cause abnormal skull shape due to premature closure of one or more cranial... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Craniosynostosis, a developmental craniofacial anomaly, can impair brain development and cause abnormal skull shape due to premature closure of one or more cranial sutures. Traditional surgical treatments have evolved from open operations to minimally invasive endoscopic techniques. This systematic review and meta-analysis aim to evaluate the effectiveness and safety of the endoscopic approach in craniosynostosis correction.
METHODS
Adhering to Cochrane Group standards and the PRISMA framework, this review utilized databases like PubMed, Embase, and Web of Science, focusing on clinical and surgical outcomes of endoscopic craniosynostosis operations up to December 2023. Inclusion criteria emphasized studies with at least five patients undergoing endoscopic procedures, while exclusion criteria involved non-English papers, incomplete texts, and overlapping data. Statistical analysis used R software with various packages, and methodological bias was assessed using the ROBINS-I framework.
RESULTS
The review included 30 studies (4 prospective, 26 retrospective) with 2561 patients. The median age at operation was 3.20 months. Findings showed a mean operative time of 68.06 min, median hospital stay of 1.28 days, and mean blood loss of 29.89 ml. Blood transfusion was required in 9.97% of cases. Helmet therapy post-operation was common, with a median duration of 9 months. The rate of postoperative complications was 1.86%, and the reoperation rate was 3.07%. No procedure-related mortality was observed. The study noted substantial variations in the handling of craniosynostosis and a lack of consensus on the optimal timing and surgical approach.
CONCLUSION
Endoscopic techniques for craniosynostosis repair demonstrate safety and effectiveness, characterized by low complication risks and favorable surgical outcomes. However, due to the limitations of observational studies and inherent heterogeneity, further comprehensive and controlled trials are needed to validate these findings and understand the long-term outcomes of the endoscopic approach.
Topics: Craniosynostoses; Humans; Neuroendoscopy; Treatment Outcome; Postoperative Complications; Endoscopy; Infant; Operative Time; Length of Stay
PubMed: 38749357
DOI: 10.1016/j.clineuro.2024.108296 -
Anais Da Academia Brasileira de Ciencias 2024Brachycephalic breeds of dogs, most of which show signs of the brachycephalic syndrome may have greater parasympathetic stimulation than other breeds, leading to higher...
Brachycephalic breeds of dogs, most of which show signs of the brachycephalic syndrome may have greater parasympathetic stimulation than other breeds, leading to higher values of heart rate variability and vagal tone index. The aim of this study was to establish a computerized electrocardiographic study and an assessment of the vagus sympathetic balance through heart rate variability and vagal tone index of five brachycephalic breeds compared to mesocephalic dogs. Sixty dogs were used, divided into groups made up of Boxers, English Bulldogs, French Bulldogs, Pugs, Shih-Tzu and no defined breed mesocephalic dogs. Statistical analysis was carried out using the Shapiro-Wilk test, Kruskal-Wallis and Dunn's test or ANOVA and Bonferroni (p<0.05). In the evaluation of vagal sympathetic balance among all the dogs, there was a negative correlation between heart rate and HRV 10RR (r = - 0.7678; p < 0.0001), HRV 20RR (r = - 0.8548, p < 0.0001) and VVTI (r = - 0.2770; p = 0.0321). It can therefore be concluded that the dog's breed and morphology did not alter its electrocardiographic parameters or heart rate variability. The vagal tone index, which in other studies differed in brachycephalic dogs, showed no difference when compared separately in brachycephalic breeds.
Topics: Animals; Dogs; Heart Rate; Vagus Nerve; Electrocardiography; Male; Female; Craniosynostoses
PubMed: 38747800
DOI: 10.1590/0001-3765202420231250