Background Infantile hemangioma (IH) is a frequently encountered tumor with a potentially complicated course. Recently, propranolol was discovered to be an effective treatment option. Objective To ...describe the effects and side effects of propranolol treatment in 28 children with (complicated) IH. Methods A protocol for treatment of IH with propranolol was designed and implemented. Propranolol was administered to 28 children (21 girls and 7 boys, mean age at onset of treatment: 8.8 months). Results All 28 patients had a good response. In two patients, systemic corticosteroid therapy was tapered successfully after propranolol was initiated. Propranolol was also an effective treatment for hemangiomas in 4 patients older than 1 year of age. Side effects that needed intervention and/or close monitoring were not dose dependent and included symptomatic hypoglycemia (n = 2; 1 patient also taking prednisone), hypotension (n = 16, of which 1 is symptomatic), and bronchial hyperreactivity (n = 3). Restless sleep (n = 8), constipation (n = 3) and cold extremities (n = 3) were observed. Limitations Clinical studies are necessary to evaluate the incidence of side effects of propranolol treatment of IH. Conclusions Propranolol appears to be an effective treatment option for IH even in the nonproliferative phase and after the first year of life. Potentially harmful adverse effects include hypoglycemia, bronchospasm, and hypotension.
Objective
The objective of this study was to investigate how cleft surgeons classify palatal fistulas. We focused on three different anatomical locations (ie, hard palate, soft palate, junction ...hard/soft palate) to analyze agreement/disagreement at various anatomical locations.
Design
Cross-sectional survey study.
Participants
Participants in an international webinar that focused on palatal fistula treatment were included.
Intervention
Participants were presented with a survey pre- and post-webinar.
Main outcomes
Frequency of used classification systems for classifying oronasal fistulas and the inter-rater reliability of the Pittsburgh classification system.
Results
A total of 141 participants completed the questionnaires prior to the webinar and 109 participants completed the survey after the webinar. In total, four classification systems were used (ie, Pittsburgh, Pakistan Comprehensive Fistula Classification PCFC, anatomical and ‘other’). The Pittsburgh classification was the most commonly used system in all cases. However, Pittsburgh inter-rater reliability was low (κ = 0.136 pre-webinar, and κ = 0.174 post-webinar). Surprisingly, a substantial shift was observed from the anatomical to Pittsburgh classification after the webinar, indicating increased awareness of the usability of the Pittsburgh classification system.
Conclusions
This study demonstrates a large heterogeneity with regards to the classification of cleft palate fistulas. Interestingly, a shift was observed from the anatomical to Pittsburgh classification after the webinar. However, the inter-rater reliability for using the Pittsburgh classification was low. Classifying palatal fistulas in a homogenous fashion could enhance comparison of primary palate repair and could improve treatment of palatal fistulas.
Objective
Some studies have suggested that introducing a second-trimester anomaly scan (SAS) leads to increased rates of termination of pregnancy (TOP) in fetuses with orofacial clefts (OFCs). The ...aim of this study was to evaluate the impact of a nationwide introduction of SAS on the prevalence of live births with OFCs in the Netherlands.
Design
Retrospective cohort study.
Setting
Tertiary setting.
Population
Included in the study were all patients diagnosed with OFCs as recorded in the “Dutch Association for Cleft Palate Anomalies” database between 1997 and 2019.
Interventions
Patients were divided into three categories: cleft lip with or without alveolus (CL/A), cleft lip, alveolus and palate (CLAP) and cleft palate (CP) based on anatomical landmarks at the first consultation.
Main outcome measures
Prevalence rates of OFCs before and after the nationwide introduction of the SAS on January 1, 2007 were compared.
Result
Overall, 1899 patients were diagnosed with CL/A, 2586 with CLAP and 2927 with CP. The prevalence of clefts before and after introduction of the SAS did not differ (P = 0.85). The prevalence of CL/A decreased (P = 0.04), and that of CLAP decreased (P = 0.01) and that of CP increased (P = 0.02).
Conclusions
This study demonstrates a significant decrease in the prevalence of CL/A and CLAP after introduction of the SAS. However, due to an increase in CP, the prevalence of all patients born with OFCs has not changed in the Netherlands between 1997 and 2019.
Measurement of auricle parameters for planning and post-operative evaluation presents substantial challenges due to the complex 3D structure of the human auricle. Traditional measurement methods rely ...on manual techniques, resulting in limited precision. This study introduces a novel automated surface-based three-dimensional measurement method for quantifying human auricle parameters. The method was applied to virtual auricles reconstructed from Computed Tomography (CT) scans of a cadaver head and subsequent measurement of important clinically relevant aesthetical auricular parameters (length, width, protrusion, position, auriculocephalic angle, and inclination angle). Reference measurements were done manually (using a caliper and using a 3D landmarking method) and measurement precision was compared to the automated method. The CT scans were performed using both a contemporary high-end and a low-end CT scanner. Scans were conducted at a standard scanning dose, and at half the dose. The automatic method demonstrated significantly higher precision in measuring auricle parameters compared to manual methods. Compared to traditional manual measurements, precision improved for auricle length (9×), width (5×), protrusion (5×), Auriculocephalic Angle (5-54×) and posteroanterior position (23×). Concerning parameters without comparison with a manual method, the precision level of supero-inferior position was 0.489 mm; and the precisions of the inclination angle measurements were 1.365 mm and 0.237 mm for the two automated methods investigated. Improved precision of measuring auricle parameters was associated with using the high-end scanner. A higher dose was only associated with a higher precision for the left auricle length. The findings of this study emphasize the advantage of automated surface-based auricle measurements, showcasing improved precision compared to traditional methods. This novel algorithm has the potential to enhance auricle reconstruction and other applications in plastic surgery, offering a promising avenue for future research and clinical application.
Objectives
To (1) appraise current international classification and clinical management strategies for craniofacial microsomia (CFM) and microtia, and (2) to assess agreement with the European ...Reference Network “European Guideline Craniofacial Microsomia” recommendations on screening and monitoring.
Design
This was a cross-sectional online survey study. The survey consisted of 44 questions on demographics, diagnostics and classification, obstructive sleep apnea, feeding difficulties, speech and language development, hearing, ocular abnormalities, visual development, orthodontic screening, genetic counselling, psychological wellbeing, and extracraniofacial anomalies.
Participants
Respondents were participants of 3 international cleft and craniofacial conferences, members of the American Cleft Palate and Craniofacial Association and members of the International Society for Auricular Reconstruction. Respondents were requested to complete 1 questionnaire per multidisciplinary team.
Results
Fifty-seven responses were received from 30 countries (response rate ∼3%).The International Consortium for Health Outcomes Measurement diagnostic criteria were used by 86% of respondents, though 65% considered isolated microtia a mild form of CFM. The Orbit, Mandible, Ear, Facial Nerve and Soft Tissue classification system was used by 74% of respondents. Agreement with standardized screening and monitoring recommendations was between 61% and 97%. A majority of respondents agreed with screening for extracraniofacial anomalies (63%-68%) and with genetic counselling (81%).
Conclusions
This survey did not reveal consistent agreement on the diagnostic criteria for CFM. Respondents mostly supported management recommendations, but frequently disagreed with the standardization of care. Future studies could focus on working towards international consensus on diagnostic criteria, and exploring internationally feasible management strategies.
Objective
To assess which information about microtia and the possible reconstructive options health care providers (HCPs), patients and parents believe should be included in a patient decision aid ...(PtDA).
Design
A mixed-methods study comprised of an online survey of HCPs and focus group discussions with patients and parents.
Participants
Survey respondents were members of the International Society for Auricular Reconstruction (ISAR). Focus group participants were patients with microtia and their parents, recruited through the microtia outpatient clinic at Amsterdam UMC, and through a Dutch patient organization for cleft and craniofacial conditions.
Methods
An online, investigator-made survey was sent to ISAR members in December 2021. Semi-structured focus group discussions were held in February 2022. Quantitative results were summarized, and qualitative results were thematically grouped.
Results
Thirty-two HCPs responded to the survey (response rate 41%). Most respondents (n = 24) were plastic surgeons, who had a median of 15 years of experience (IQR: 7-23 years). Two focus groups were held with a total of five patients and two parents. HCPs, patients and parents generally agreed on the information needed in a PtDA, emphasizing the importance of realistic expectation management. Patients and parents also considered psychosocial and functional outcomes, patient experiences, as well as patients’ involvement in decision-making important.
Conclusions
A PtDA for microtia reconstruction should target all patients with microtia, and include information on at least technique-related information, expected esthetic results, possible adverse effects, psychosocial and functional outcomes and patient experiences. Preference eliciting questions should be developed for both pediatric patients and their parents.
Objective:
To analyze the incidence of submucous cleft palate (SMCP) in a large national database and raise awareness among referring providers: pediatricians, speech pathologists, and dentists to ...minimize delay in diagnosis.
Design:
Retrospective cohort study.
Setting:
Tertiary setting.
Patients:
Patients were extracted from the “Dutch Association for Cleft and Craniofacial Anomalies” database. A total of 6916 patients were included from 1997 until 2018 and divided into 2 groups (ie, SMCP versus cleft palate CP). Patients born before 1997 and adopted patients were excluded.
Interventions:
Clefts were classified as either hard of soft palatal involvement based on anatomical landmarks at first consultation.
Main Outcome Measures:
Primary outcomes were the patient characteristics in both groups (ie, gender, birth weight, gestational age, and additional anomalies). Secondary outcome was the time of diagnosis among subgroups.
Results:
In total, 532 patients were diagnosed with SMCP (7.7%). Birth weight, gestational age, and additional anomalies did not differ between subgroups, but there were more males in the SMCP group (P < .001). The median age of diagnosis of the SMCP group was significantly higher than of the CP group (987 vs 27 days; P < .001). Over the course of 22 years, the time of diagnosis for SMCP did not decrease.
Conclusion:
Submucous cleft palate represents <10% of the Dutch cleft population and 19.4% of all CP. Time of diagnosis for SMCP is significantly longer when compared with time of diagnosis of CP, and this has not changed over the study period of 22 years.
Objective
Otitis media with effusion is common in infants with an unrepaired cleft palate. Although its prevalence is reduced after cleft surgery, many children continue to suffer from middle ear ...problems during childhood. While the tensor veli palatini muscle is thought to be involved in middle ear ventilation, evidence about its exact anatomy, function, and role in cleft palate surgery is limited.
This study aimed to perform a thorough review of the literature on (1) the role of the tensor veli palatini muscle in the Eustachian tube opening and middle ear ventilation, (2) anatomical anomalies in cleft palate infants related to middle ear disease, and (3) their implications for surgical techniques used in cleft palate repair.
Materials and methods
A literature search on the MEDLINE database was performed using a combination of the keywords “tensor veli palatini muscle,” “Eustachian tube,” “otitis media with effusion,” and “cleft palate.”
Results
Several studies confirm the important role of the tensor veli palatini muscle in the Eustachian tube opening mechanism. Maintaining the integrity of the tensor veli palatini muscle during cleft palate surgery seems to improve long-term otological outcome. However, anatomical variations in cleft palate children may alter the effect of the tensor veli palatini muscle on the Eustachian tube’s dilatation mechanism.
Conclusion
More research is warranted to clarify the role of the tensor veli palatini muscle in cleft palate-associated Eustachian tube dysfunction and development of middle ear problems.
Clinical relevance
Optimized surgical management of cleft palate could potentially reduce associated middle ear problems.
The aim of the present study was to determine the influence of the vomer flap during cleft palate closure.
A retrospective review was performed of all consecutive unilateral/bilateral complete cleft ...lip and palate (Veau III en IV) children who were treated by a simultaneous lip and hard palate closure using a vomer flap. Data were collected for sex, date of birth, syndrome, adoption, cleft palate type, type of repair, date of cleft repair, cleft width, lateral incisions, fistula and location of fistula.
Ninety-one children (M = 62, F 29) were operated. Mean age at time of lip closure and vomer flap was 5.8 months (range 2.9 months to 49.2 months, SD 7.1) and the mean age at palate closure was 13.6 months (range 6.3 months to 79.9 months, SD 10.8). The mean cleft width at first assessment was 13.0 mm (range 7–22 mm) compared to 8.8 mm (range 4–15 mm) at second assessment (mean difference 4.6 mm, 95% CI 3.93–5.35, p < 0.01). One patient developed a fistula (1.1%) and required secondary surgery for closure.
The vomer flap leads to a substantial decrease in cleft width, subsequently leading to a low fistula incidence (1.1%).
Skeletal dysplasia with multiple dislocations are severe disorders characterized by dislocations of large joints and short stature. The majority of them have been linked to pathogenic variants in ...genes encoding glycosyltransferases, sulfotransferases or epimerases required for glycosaminoglycan synthesis. Using exome sequencing, we identify homozygous mutations in SLC10A7 in six individuals with skeletal dysplasia with multiple dislocations and amelogenesis imperfecta. SLC10A7 encodes a 10-transmembrane-domain transporter located at the plasma membrane. Functional studies in vitro demonstrate that SLC10A7 mutations reduce SLC10A7 protein expression. We generate a Slc10a7
mouse model, which displays shortened long bones, growth plate disorganization and tooth enamel anomalies, recapitulating the human phenotype. Furthermore, we identify decreased heparan sulfate levels in Slc10a7
mouse cartilage and patient fibroblasts. Finally, we find an abnormal N-glycoprotein electrophoretic profile in patient blood samples. Together, our findings support the involvement of SLC10A7 in glycosaminoglycan synthesis and specifically in skeletal development.
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