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The Cleft Palate-craniofacial Journal :... Jul 2024This study aims to analyze the readability of online craniosynostosis materials from the perspective of a caregiver, and to assess if readability levels conform to...
OBJECTIVE
This study aims to analyze the readability of online craniosynostosis materials from the perspective of a caregiver, and to assess if readability levels conform to recommendations by the American Medical Association (AMA) and National Institutes of Health (NIH).
DESIGN
This is a cross-sectional investigation in which an internet search was conducted simulating the search terms of a caregiver of a patient with craniosynostosis. The first three pages of resulting records were calculated for comprehension ease using validated readability indices. Records were also classified by author type, including hospital system, national health organization, academic journal, and other.
MAIN OUTCOME MEASURES
Flesch-Kincaid Reading Grade Level, Gunning fog Index, SMOG Index, and Coleman Liau Index.
RESULTS
Thirty records were identified for which the mean readability level was 12.8 ± 2.6 grade levels (range, 7.6-15.9). There were no significant differences in mean readability across readability indices or author type. None of the thirty records met levels recommended by the AMA or NIH and were 6.8 grade levels above these guidelines on average.
CONCLUSIONS
Online material pertaining to craniosynostosis is written, on average, at the reading level of a first-year undergraduate student. The AMA and NIH recommend that articles be written at approximately a sixth-grade reading level to promote comprehension. Therefore, there is significant room for improvement of current online materials. Authors should consider consulting publicly available guides in preparing future resources.
Topics: Humans; Craniosynostoses; Cross-Sectional Studies; Internet; Comprehension; United States; Health Literacy; Caregivers
PubMed: 36744419
DOI: 10.1177/10556656231154843 -
The Journal of Craniofacial SurgeryAlthough perinatal lethal hypophosphatasia (HPP) was once a disease with a universally poor prognosis, it has now become a rare but treatable condition with the advent...
Although perinatal lethal hypophosphatasia (HPP) was once a disease with a universally poor prognosis, it has now become a rare but treatable condition with the advent of enzyme replacement therapy with asfotase alfa. As a result, a greater population of patients with perinatal HPP are presenting with abnormal head shape and craniosynostosis. The authors present here 3 cases of perinatal lethal HPP, 1 treated with traditional open cranial vault remodeling and 2 treated utilizing distraction osteogenesis techniques. All patients demonstrated outcomes comparable to those previously reported with traditional observation or open cranial vault repair. Thorough consideration and discussion between the surgical team and patient's family is needed to determine a treatment plan that best addresses the goals of patient and family in light of recent advances in medical treatment in this rare patient population in which surgical interventions were previously nearly impossible. This article further supports the safety and efficacy of surgical intervention and explores the utility of distraction osteogenesis to address craniosynostosis in this patient population.
Topics: Pregnancy; Female; Humans; Hypophosphatasia; Alkaline Phosphatase; Craniosynostoses; Enzyme Replacement Therapy; Osteogenesis, Distraction
PubMed: 37610006
DOI: 10.1097/SCS.0000000000009641 -
European Journal of Orthopaedic Surgery... Dec 2023Reconstructive surgery of the clavicle using free vascularised fibula grafting (FVFG) is sometimes required for the management of severe bone loss or non-union. As the... (Review)
Review
Reconstructive surgery of the clavicle using free vascularised fibula grafting (FVFG) is sometimes required for the management of severe bone loss or non-union. As the procedure is relatively rare, there is no universal agreement on the management and outcome. This systematic review aimed to first, identify the conditions for which FVFG has been applied; second, to gain an understanding of the surgical techniques used; and third, to report outcomes related to bone union, infection eradication, function and complications. A PRISMA strategy was used. Medline, Cochrane Central Register of Controlled Trials, Scopus and EMBASE library databases were interrogated using pre-defined MeSH terms and Boolean operators. Quality of evidence was evaluated based on OCEBM and GRADE systems. Fourteen studies based on 37 patients were identified with a mean follow-up time of 33.3 months. The most common reasons for the procedure were: fracture non-union; tumours requiring resection; post-radiation treatment osteonecrosis and osteomyelitis. The operation approaches were similar, involving graft retrieval, insertion and fixation and vessels chosen for reattachment. The mean clavicular bone defect size was 6.6 cm (± 1.5), prior to FVFG. Bone union occurred in 94.6% with good functional outcomes. Complete infection eradication occurred in those with preceding osteomyelitis. The main complications were broken metalwork, delayed union/non-union and fibular leg paraesthesia (n = 20). The mean re-operation number was 1.6 (range 0-5.0). The study demonstrates that FVFG is well tolerated and has a high success rate. However, patients should be advised about complication development and re-intervention requirement. Interestingly, overall data is sparse with no large cohort groups or randomised trials.
Topics: Humans; Fibula; Treatment Outcome; Clavicle; Fractures, Bone; Osteomyelitis; Bone Transplantation; Synostosis
PubMed: 37289244
DOI: 10.1007/s00590-023-03598-8 -
Scientific Reports Jan 2024Despite the undertaken treatment, children with nonsyndromic sagittal craniosynostosis (NSC) are burdened with problems with speech development, visuospatial and other...
Despite the undertaken treatment, children with nonsyndromic sagittal craniosynostosis (NSC) are burdened with problems with speech development, visuospatial and other cognitive deficits. The electroencephalographic assessment has not influenced the diagnostics and treatment strategy of craniosynostosis so far but the introduction of quantitative EEG (QEEG) protocols renewed an interest in the functional aspect of this disease. In this study we retrospectively assessed the QEEG records of 25 children with NSC aged 1-18 months (mean age 9.62 months) before and after surgery. In each case, the amplitude, interhemispheric (ICoh) and intrahemispheric (HCoh) coherence indices were calculated. Obtained data were compared to age-matched control group of 25 normocephalic children. Children with NSC presented significantly lower values of amplitudes and intrahemispheric coherence in occipital, posterior parietal and posterior temporal regions than normocephalic children. The values of amplitudes, ICoh and HCoh in pre- and postoperative QEEG records mostly remained unchanged, with a slight improvement in HCoh in centro-parietal area. These findings suggest that NSC children present their own QEEG profile. The operative treatment improves an intrahemispheric connectivity, but there still exists a significant difference in the occipitotemporal, frontotemporal and centro-frontal areas, which may be considered as a functional substrate of reported speech and neurocognitive problems. QEEG findings in nonsyndromic sagittal craniosynostosis.
Topics: Child; Humans; Infant; Retrospective Studies; Craniosynostoses; Electroencephalography; Temporal Lobe; Cognition Disorders
PubMed: 38221524
DOI: 10.1038/s41598-024-51858-2 -
JAMA May 2024
Topics: Humans; Infant; Infant, Newborn; Craniosynostoses; Head; Head Protective Devices; Syndrome
PubMed: 38602706
DOI: 10.1001/jama.2023.26048 -
Clinical Genetics Aug 2023Spondylocostal dysostosis (SCD), a condition characterized by multiple segmentation defects of the vertebrae and rib malformations, is caused by bi-allelic variants in...
Spondylocostal dysostosis (SCD), a condition characterized by multiple segmentation defects of the vertebrae and rib malformations, is caused by bi-allelic variants in one of the genes involved in the Notch signaling pathway that tunes the "segmentation clock" of somitogenesis: DLL3, HES7, LFNG, MESP2, RIPPLY2, and TBX6. To date, seven individuals with LFNG variants have been reported in the literature. In this study we describe two newborns and one fetus with SCD, who were found by trio-based exome sequencing (trio-ES) to carry homozygous (c.822-5C>T) or compound heterozygous (c.[863dup];[1063G>A]) and (c.[521G>T];[890T>G]) variants in LFNG. Notably, the c.822-5C>T change, affecting the polypyrimidine tract of intron 5, is the first non-coding variant reported in LFNG. This study further refines the clinical and molecular features of spondylocostal dysostosis 3 and adds to the numerous investigations supporting the usefulness of trio-ES approach in prenatal and neonatal settings.
Topics: Humans; Infant, Newborn; Spine; Abnormalities, Multiple; Hernia, Diaphragmatic; Alleles; T-Box Domain Proteins; Membrane Proteins; Intracellular Signaling Peptides and Proteins
PubMed: 37038048
DOI: 10.1111/cge.14336 -
The Journal of Craniofacial Surgery Sep 2023Characteristics of patients with craniofacial microsomia (CFM) vary in type and severity. The diagnosis is based on phenotypical assessment and no consensus on...
Characteristics of patients with craniofacial microsomia (CFM) vary in type and severity. The diagnosis is based on phenotypical assessment and no consensus on standardized clinical diagnostic criteria is available. The use of diagnostic criteria could improve research and communication among patients and healthcare professionals. Two sets of phenotypic criteria for research were independently developed and based on multidisciplinary consensus: the FACIAL and ICHOM criteria. This study aimed to assess the sensitivity of both criteria with an existing global multicenter database of patients with CFM and study the characteristics of patients that do not meet the criteria. A total of 730 patients with CFM from were included. Characteristics of the patients were extracted, and severity was graded using the O.M.E.N.S. and Pruzansky-Kaban classification. The sensitivity of the FACIAL and ICHOM was respectively 99.6% and 94.4%. The Cohen's kappa of 0.38 indicated a fair agreement between both criteria. Patients that did not fulfill the FACIAL criteria had facial asymmetry without additional features. It can be concluded that the FACIAL and ICHOM criteria are accurate criteria to describe patients with CFM. Both criteria could be useful for future studies on CFM to create comparable and reproducible outcomes.
Topics: Humans; Goldenhar Syndrome; Facial Asymmetry; Face; Health Personnel; Patients
PubMed: 37264504
DOI: 10.1097/SCS.0000000000009446 -
Child's Nervous System : ChNS :... Dec 2023The cloverleaf skull deformity remains among the most complicated craniofacial conditions to successfully manage. Many cases achieve largely unsatisfactory outcomes due... (Review)
Review
The cloverleaf skull deformity remains among the most complicated craniofacial conditions to successfully manage. Many cases achieve largely unsatisfactory outcomes due to the requirement for frequent reoperation on the cranial vault and failure to deal with all the elements of the craniofaciostenosis in a timely fashion. Early cranial vault surgery without addressing the cranial base deformity and its attendant cerebrospinal fluid flow changes is invariably challenging and disappointing. A recent focus on the expansion of the posterior cranial vault as a primary procedure with the greater volume change allows a delay in fronto-orbital advancement and reduced need for repeat surgery. We herein describe three cases of complex multisuture craniosynostosis with cloverleaf skull deformity who underwent neonatal posterior cranial vault decompression along with foramen magnum decompression. Our report examines the safety and rationale for this pre-emptive surgical approach to simultaneously deal with the cranial vault and craniocervical junction abnormalities and thus change the early trajectory of these complex cases.
Topics: Infant, Newborn; Humans; Infant; Craniosynostoses; Skull; Reoperation
PubMed: 37698651
DOI: 10.1007/s00381-023-06147-0 -
Surgical and Radiologic Anatomy : SRA Jun 2024The use of 3D-printing in every field of medicine is expanding, notably as an educational tool. The aim of this study was to assess how visuospatial abilities (VSA) of...
PURPOSE
The use of 3D-printing in every field of medicine is expanding, notably as an educational tool. The aim of this study was to assess how visuospatial abilities (VSA) of students may impact learning helped with 3D-printed models.
METHODS
Participants were undergraduate medical school students during their clinical rotation in oral and maxillofacial surgery in two French Universities. Students were included prospectively and consecutively from September 2021 to June 2023. First, a lecture about craniosynostosis was performed with the help of 3D-printed models of craniosynostotic skulls. Then, a mental rotation test (MRT) followed by a multiple-choice questions (MCQs) form about craniosynostosis presentations were submitted to the students.
RESULTS
Forty undergraduate students were finally included. Median MRT score was 15 (10.75;21) and median score to the MCQs was 13 (11.75;14). There was a significantly weak correlation between the MRT-A score and the score to the MCQs (r = 0.364; p = 0.022). A simple linear regression was calculated to predict the result to the MCQs on MRT-A score [ (F(1,39) = 281.248; p < 0.0001), with a R2 of 0.878 ].
CONCLUSION
This study showed that VSA has an impact on the recognition of complex clinical presentations, i.e. skulls with craniosynostosis. The correlation found between VSA and complex 3D shape recognition after learning aided with 3D-printed model is emphasizing the importance of VSA when using innovative technologies. Thus, VSA training should be envisioned during the curriculum.
Topics: Humans; Printing, Three-Dimensional; Education, Medical, Undergraduate; Male; Female; Craniosynostoses; Prospective Studies; Students, Medical; Models, Anatomic; Young Adult; Surgery, Oral; Educational Measurement; France
PubMed: 38652251
DOI: 10.1007/s00276-024-03370-5 -
Nature Reviews. Drug Discovery Jun 2024
Topics: Humans; Syndactyly; Autistic Disorder; Long QT Syndrome; Primary Immunodeficiency Diseases
PubMed: 38714847
DOI: 10.1038/d41573-024-00075-7