Force Balance Reconstruction of the Orbicularis Oris in Secondary Unilateral Cleft Lip Deformity.

BACKGROUND: Secondary unilateral cleft lip deformities are commonly observed in patients with cleft lip and traditional surgical methods can't completely tackle this problem. The purpose of this study was to evaluate the outcomes of a novel surgical technique using force balance reconstruction of the orbicularis oris. METHODS: 53 patients with secondary unilateral cleft lip deformity were included in this study, in which the orbicularis oris muscle was reconstructed symmetrically to achieve optimal force balance. Photometric 2d indexes were employed to evaluate the outcome of 27 patients, and 3d indexes for the remaining 26 patients. Aesthetic evaluation and parent-patient satisfaction surveys were also recorded. RESULTS: Significant differences were found in the following: (1) LH (the lip height), LW (the lip width), D1(the vertical distance from the white roll to the vermilion bottom at the christa philtra points) and D2(the vertical distance from the christa philtra points to the facial midline) when comparing preoperative and postoperative 2D images; (2) LH, LW, D1 and D2 when comparing preoperative and follow-up 2D images; (3) RMS (root mean of square) when comparing preoperative and postoperative 3D images. Aesthetic evaluation in the follow-up period was a mean of 4.29, while parent-patient satisfaction of the overall appearance was a mean of 4.41. CONCLUSIONS: The results suggest this new muscle reconstruction technique can significantly improve the surgical outcome of secondary unilateral cleft lip deformities. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 ."

Crowdsourcing the Impact of Illustration in Cleft Surgery Education.

OBJECTIVE: This study aimed to (1) assess layperson preferences for how surgical information is presented; (2) evaluate how the format of visual information relates to layperson comfort with undergoing surgery, perceptions of surgeon character traits, and beliefs about artistic skill impacting plastic surgery practice; and (3) identify sociodemographic characteristics associated with these outcomes. DESIGN: A survey was developed in which one of five standardized sets of information depicting a unilateral cleft lip repair was presented as (1) text alone, (2) quick sketches, (3) simple drawings, (4) detailed illustrations, or (5) photographs. SETTING: Online crowdsourcing platform. PARTICIPANTS: Raters aged 18 years and older from the United States. INTERVENTIONS: None. MAIN OUTCOME MEASURE(S): After viewing the surgical information, participants answered three sets of Likert scale questions. Ratings were averaged to produce three composite scores assessing (1) comfort with undergoing surgery (2) perceptions of surgeon character traits, and (3) beliefs about plastic surgery and artistry. RESULTS: Four hundred seventy-nine participants were included. Surgeon character traits score was highest among participants who viewed detailed illustrations at 4.46 ± 0.59, followed by photographs at 4.43 ± 0.54, text alone at 4.28 ± 0.59, simple drawings at 4.17 ± 0.67, and quick sketches at 4.17 ± 0.71 (p = 0.0014). Participants who viewed detailed illustrations rated surgical comfort score and plastic surgery and artistry score highest, although differences did not achieve statistical significance. CONCLUSIONS: Viewing detailed cleft lip repair illustrations was significantly associated with positive perceptions of surgeon character traits. Our data help to contextualize methods of communication and education valued by the public when seeking cleft care.

Evaluation of Secondary Alveolar Bone Grafting for Unilateral Complete Cleft Alveolus: A Retrospective Cone Beam Computed Tomography-Based Study.

Background: In patients with cleft lip and palate (CLP), secondary alveolar bone grafting (SABG) with particulate cancellous bone marrow (PCBM) is recommended. Objective: To compare bone graft outcomes in patients with unilateral CLP, when SABG is completed before or after canine tooth eruption (ACE or BCE), as measured by cone beam computed tomography (CBCT). Methods: Patients were allocated into two cohorts, ACE and BCE. The outcomes were evaluated using CBCT, followed by univariate and multifactorial analyses. Results: A total of 468 patients (age 11.61 ± 4.03 years; male/female 288/180) were analyzed, including 282 in the BCE group (9.41 ± 1.59 years, 175/107) and 186 in the ACE group (14.95 ± 4.31 years, 113/73). Although 5-level assessment revealed no significant difference in clinical success rate (>4 points) between the BCE and ACE groups (53.90% vs. 47.85%, p = 0.20), BCE group showed significantly higher rate of bone bridges formation (73.05% vs. 62.90%, p = 0.02), which can be attributed to variations in orthodontic participation and follow-up time. Independent predictors of graft failure were wide cleft, severe oronasal fistula, no palatal bone wall, and insufficient PCBM filling (p < 0.01). Conclusions: SABG should be performed before canine eruption with more aggressive PCBM filling and oral fistula management.

Psychosocial Status and Self-Perception in Patients with Cleft Lip and/or Palate.

OBJECTIVE: To describe how the psychosocial status of patients with cleft lip and/or palate (CL/P) relates to patient-reported outcomes (PROs). DESIGN: Cross-sectional retrospective chart review. SETTING: Tertiary care pediatric hospital. PATIENTS/PARTICIPANTS: Patients aged 8 to 29 years attending cleft team evaluations during a 1-year period. MAIN OUTCOME MEASURES: CLEFT-Q. RESULTS: Patients (N = 158) with isolated or syndromic CL/P and mean age 13.4 ± 3.0 years were included. Fifteen (9%) patients had siblings who also had CL/P. Of 104 patients who met with the team psychologist, psychosocial concerns were identified in 49 (47%) patients, including 25 (24%) with Attention-Deficit/Hyperactivity Disorder or behavior concerns, 28 (27%) with anxiety, and 14 (13%) with depression or mood concerns. Younger age and having siblings with cleft were associated with better PROs, while psychosocial concerns were associated with worse PROs on Speech, Psychosocial, and Face Appearance scales. CONCLUSIONS: Patient perception of cleft outcomes is linked to psychosocial factors.

Complex lumbosacral spinal cord lipomas: A longitudinal study on outcomes from a Singapore children's hospital.

BACKGROUND: Total/near-total resection (TR/NTR) of complex lumbosacral lipomas (CSL) is reported to be associated with better long-term functional outcomes and lower symptomatic re-tethering rates. We report our institutional experience for CSL resection in affected children. METHODS: This is a single-institution, retrospective study. Inclusion criteria consist of patients with CSL with dorsal, transitional and chaotic lipomas based on Pang et al's classification. The study population is divided into 2 groups: asymptomatic patients with a normal preoperative workup referred to as 'prophylactic intent' and 'therapeutic intent' for those with pre-existing neuro-urological symptoms. Primary aims are to review factors that affect post-operative clean intermittent catheterization (CIC), functional outcomes based on Necker functional score (NFS), and re-tethering rates. RESULTS: 122 patients were included from 2000 to 2021. There were 32 dorsal lipomas (26.2 %), 74 transitional lipomas (60.7 %), and 16 chaotic lipomas (13.1 %). 82 % patients achieved TR/NTR. Favourable NFS at 1-year was 48.2 %. The re-tethering rate was 6.6 %. After multivariable analysis, post-operative CIC was associated with median age at surgery (p = 0.026), lipoma type (p = 0.029), conus height (p = 0.048) and prophylactic intent (p < 0.001). Next, extent of lipoma resection (p = 0.012) and the post-operative CSF leak (p = 0.004) were associated with re-tethering. Favourable NFS was associated with lipoma type (p = 0.047) and prophylactic intent surgery (p < 0.001). CONCLUSIONS: Our experience shows that TR/NTR for CSL is a feasible option to prevent functional deterioration and re-tethering. Efforts are needed to work on factors associated with post-operative CIC.

Bilateral Buccal Flap Revision Palatoplasty to Correct Velopharyngeal Dysfunction: Perceptual Speech, Acoustic, and Aerodynamic Outcomes.

BACKGROUND: The purpose of this study was to analyze perceptual, acoustic, and aerodynamic changes in speech and velopharyngeal function after bilateral buccal flap revision palatoplasty (BBFRP) in patients with repaired cleft palate. METHODS: Ten consecutive patients ages 4 to 18 years with velopharyngeal dysfunction treated with BBFRP by a single surgeon were evaluated. Using a visual analog scale, nine blinded speech-language pathologists independently rated hypernasality, hyponasality, audible nasal emission, and speech acceptability. Measurements of the acoustic speech signal were used to quantify changes in hypernasality and nasal emission. The pressure flow technique was used to determine changes in velopharyngeal gap size. RESULTS: Complete records were available for eight patients. After surgery, hypernasality decreased ( P < 0.001) and speech acceptability increased ( P < 0.001) significantly. Audible nasal emission was significantly reduced ( P < 0.001). Postoperative acoustic measures showed a reduction of nasal emission and nasalization. Velopharyngeal gap size significantly decreased after BBFRP ( P < 0.001), correlating with lower visual analog scale ratings of hypernasality ( P = 0.015). Hyponasality did not change significantly after surgery ( P = 0.964). No patient developed sleep-disordered breathing. CONCLUSION: BBFRP resulted in a measurable improvement in hypernasal speech, audible nasal emission, and speech acceptability without significant changes in hyponasality or risk of obstructive sleep apnea. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.

Turner syndrome (45,X) is caused by a complete or partial absence of a single X chromosome. Vascular malformations occur due to abnormal development of blood and/or lymphatic vessels. They arise from either somatic or germline pathogenic variants in the genes regulating growth and apoptosis of vascular channels. Aortic abnormalities are a common, known vascular anomaly of Turner syndrome. However, previous studies have described other vascular malformations as a rare feature of Turner syndrome and suggested that vascular abnormalities in individuals with Turner syndrome may be more generalized. In this study, we describe two individuals with co-occurrence of Turner syndrome and vascular malformations with a lymphatic component. In these individuals, genetic testing of the lesional tissue revealed a somatic pathogenic variant in PIK3CA-a known and common cause of lymphatic malformations. Based on this finding, we conclude that the vascular malformations presented here and likely those previously in the literature are not a rare part of the clinical spectrum of Turner syndrome, but rather a separate clinical entity that may or may not co-occur in individuals with Turner syndrome.

Single and 7-day handgrip and squat exercise prevents endothelial ischemia-reperfusion injury in individuals with cardiovascular disease risk factors.

Whole body exercise provides protection against endothelial ischemia-reperfusion (IR) injury. In this crossover study, we examined the effects of 1) single bout of local exercise (handgrip, squats) on endothelial responses to IR, and 2) if 7 days of daily local exercise bolsters these effects in individuals with cardiovascular disease (CVD) risk factors. Fifteen participants (9 women, 58 ± 5 yr, ≥2 CVD risk factors) attended the laboratory for six visits. Subsequent to familiarization (visit 1), during visit 2 (control) brachial artery flow-mediated dilation (FMD) was measured before and after IR (15-min upper-arm ischemia, 15-min reperfusion). One week later, participants were randomized to 4 × 5-min unilateral handgrip (50% maximal voluntary contraction, 25 rpm) or squat exercises (15 rpm), followed by IR plus FMD measurements. Subsequently, home-based exercise was performed (6 days), followed by another visit to the laboratory for the IR protocol plus FMD measurements (18-24 h after the last exercise bout). After a 2-wk washout period, procedures were repeated with the alternative exercise mode. For a single exercise bout, we found a significant IR injury × exercise mode interaction (P < 0.01) but no main effect of injury (P = 0.08) or condition (P = 0.61). A lower post-IR FMD was evident after control (pre-IR: 4.3 ± 2.1% to post-IR: 2.9 ± 1.9%, P < 0.01) but not after handgrip (pre-IR: 3.8 ± 1.6% to post-IR: 3.4 ± 1.5%, P = 0.31) or squats (pre-IR: 3.9 ± 1.8% to post-IR: 4.0 ± 1.9%, P = 0.74). After 7 days of daily exercise, we found no change in FMD post-IR following handgrip (pre-IR: 4.3 ± 1.9% to post-IR: 4.7 ± 3.2%) or squats (pre-IR: 3.7 ± 2.1% to post-IR: 4.7 ± 3.0%, P > 0.05). Single bouts of dynamic, local exercise (handgrip, squats) provide remote protection against endothelial IR-induced injury in individuals with CVD risk factors, with 1-wk daily, home-based exercise preserving these effects for up to 24 h following the last exercise bout.NEW & NOTEWORTHY We show that single bouts of dynamic handgrip and squat exercise provide remote protection against endothelial ischemia-reperfusion (IR)-induced injury in individuals with cardiovascular disease (CVD) risk factors, with 1-wk daily, home-based exercise preserving these effects for up to 24 h following the last exercise bout.

Speech Outcomes and Rates of Secondary Speech Surgery from Childhood to Skeletal Maturity Following Modified-Furlow Palatoplasty.

BACKGROUND: This study updates our institutional experience with modified Furlow palatoplasty, evaluating speech outcomes and incidence of secondary speech surgery throughout development and at skeletal maturity. METHODS: Nonsyndromic patients undergoing primary modified Furlow palatoplasty between 1985 and 2005 with post-operative speech evaluations were retrospectively reviewed. Secondary speech surgery and Pittsburgh Weighted Speech Scale (PWSS) scores prior to secondary speech or orthognathic surgeries were assessed in the 5-7, 8-11, 12-14, and 15+ age groups and analyzed by Veau cleft type. RESULTS: Five hundred fifty-one patients with 895 total speech assessments were analyzed. Of 364 patients followed to age 15 or older, 19.8% underwent secondary speech surgery. Speech assessment of patients aged 15 or older without prior secondary speech surgery showed competent velopharyngeal mechanisms in 77% of patients. PWSS nasal emission scores were worse in the 5-7 age range (p=0.02), while resonance scores remained stable throughout development (p=0.2). Patients with Veau type I or II clefts had worse overall PWSS classifications in the age 5-7 and 8-11 age groups (p=0.01, p=0.03), with greater odds of secondary speech surgery relative to those with Veau type III (OR 2.9, p<0.001) or IV clefts (OR 3.6, p=0.001). CONCLUSIONS: Most patients undergoing primary modified Furlow palatoplasty do not require secondary speech surgery and achieve socially acceptable speech at skeletal maturity. However, Veau type I and II clefts are associated with increased risk for early velopharyngeal dysfunction and secondary speech surgery. Incidence of secondary speech surgery was 19.8%, an increase from our previously reported rate of 8%.

How does CLEFT-Q change the way we practice? A prospective study integrating patient-reported outcomes.

OBJECTIVE: The CLEFT-Q is a validated instrument designed to elicit patient-reported outcomes among people affected by cleft lip and/or palate. However, it has not been reported how use of CLEFT-Q data alters routine cleft care. This study analyzed the impact of CLEFT-Q data integration on patient care and clinical decision making. METHODS: Patients were sequentially, prospectively evaluated during scheduled cleft team visits. The CLEFT-Q was completed prior to the clinic encounter but results were initially masked from the surgeon and family. In the encounter, a study observer characterized patients' verbalized attitudes across seven specific domains of appearance and function and the provisional assessment and plan was noted. CLEFT-Q data was then introduced in the clinical encounter and discussed. Discordance between patients' initially verbalized attitudes and their self-reported scores on the CLEFT-Q was documented along with any resultant modifications to their care plan. RESULTS: Seventy patient visits were observed; mean patient age was 12.7 years (range 8-19). Forty-one patients (59%) had cleft lip and palate/alveolus and 29 (41%) had isolated cleft palate. Discordance was observed in 36% of visits and in 9.2% of specific domains assessed. Highest discordance rates were observed in domains of psychosocial function (12.5%,) speech function/distress (11.6%,) and lips/lip scar appearance (11.6%). No age group or gender was associated with increased discordance. Integration of CLEFT-Q results altered the assessment and plan in 11 (16%) visits. CONCLUSIONS: The CLEFT-Q provides clinically-relevant insight into patient perspectives that are not captured by routine interview and examination alone, and regularly leads to a change in the management plan.

Associations between the timing of tongue reduction surgery, (Epi)genotype, and dentoskeletal development in patients with Beckwith-Wiedemann syndrome.

Tongue reduction surgery is often pursued to manage the adverse effects of macroglossia in patients with Beckwith-Wiedemann syndrome (BWS). This study characterized dental outcomes in patients with BWS based on surgical timing and molecular diagnosis. A retrospective study was designed to include patients with BWS over the age of two who had clinical or radiographic documentation of dental development. Patients were grouped by history of tongue reduction surgery and surgical timing (early: <12 months). One hundred three patients were included (55 no tongue reduction, 18 early, 30 late). Patients who underwent late surgery had lower odds of class I occlusion (OR 0.11, 95% CI 0.02-0.58, p = 0.009) and higher odds of anterior open bite (OR 7.5, 95% CI 1.14-49.4, p = 0.036). Patients with clinical diagnoses and negative molecular testing had anterior open bite less frequently than patients with imprinting center 2 loss of methylation and paternal uniparental isodisomy of 11p15.5 (p = 0.009). Compared to reference values, patients who had tongue reductions had an increased mandibular plane angle (32.0 ± 4.5° versus 36.9 ± 5.0°, p = 0.001), indicative of hyperdivergent growth. The results of this study help to understand the complex nature of dentoskeletal growth in BWS and shed insight on how surgical timing and molecular diagnosis influence prognosis.

Direct visualization of electronic transport in a quantum anomalous Hall insulator.

A quantum anomalous Hall (QAH) insulator is characterized by quantized Hall and vanishing longitudinal resistances at zero magnetic field that are protected against local perturbations and independent of sample details. This insensitivity makes the microscopic details of the local current distribution inaccessible to global transport measurements. Accordingly, the current distributions that give rise to transport quantization are unknown. Here we use magnetic imaging to directly visualize the transport current in the QAH regime. As we tune through the QAH plateau by electrostatic gating, we clearly identify a regime in which the sample transports current primarily in the bulk rather than along the edges. Furthermore, we image the local response of equilibrium magnetization to electrostatic gating. Combined, these measurements suggest that the current flows through incompressible regions whose spatial structure can change throughout the QAH regime. Identification of the appropriate microscopic picture of electronic transport in QAH insulators and other topologically non-trivial states of matter is a crucial step towards realizing their potential in next-generation quantum devices.

Long-Term Patient-Reported Outcomes in Internationally Adopted Children with Cleft Lip and Palate.

OBJECTIVE: To compare patient-reported outcomes (PROs) in internationally adopted patients with cleft lip and palate to those in non-adopted peers. DESIGN: Cross-sectional study. SETTING: Multidisciplinary cleft team at tertiary care hospital. PATIENTS: Patients aged ≥ 8 with cleft lip and palate attending routine cleft team evaluations September 2021 - September 2022. MAIN OUTCOME MEASURE: CLEFT-Q PRO scores. RESULTS: Sixty-four internationally adopted patients and 113 non-adopted patients with a mean age of 13 years were included. Compared to non-adopted peers, adopted patients demonstrated worse satisfaction with face appearance (mean 59 vs. 66, p = .044), speech function (mean 69 vs. 78, p = .005), and speech distress (mean 80 vs. 84, p = .032). No significant differences were observed on the nose, nostrils, teeth, lips, lip scar, jaws, psychological function, or social function scales (p > .05). Objective clinical evaluation corroborated these findings, with adopted patients demonstrating worse Pittsburgh Weighted Speech scores (mean 3.0 vs 1.9, p = .027) and greater incidence of articulation errors (64% vs 46%, p = .021). No significant differences were observed in rates of mood, anxiety, or behavior concerns identified on psychosocial assessment (p = .764). Among adopted patients, undergoing palatoplasty prior to adoption was associated with worse satisfaction with speech, appearance, school, and social function (p < .05). CONCLUSIONS: Patient-reported outcomes among internationally adopted adolescents and young adults with cleft lip and palate show slightly lower satisfaction with facial appearance and speech but otherwise demonstrate similar results to non-adopted peers on most appearance and psychosocial measures. PRO data correlated well with objective speech assessment and did not portend worse psychosocial function.

A Retrospective and Prospective Cohort Study Comparing Pediatric Patients With Cleft Lip and Palate From the United States and Guatemala.

Orofacial clefts (OFC) remain among the most prevalent congenital abnormalities worldwide. In the United States in 2010 to 2014, 16.2 of 10,000 live births are born with OFC compared with 23.6 of 10,000 in Alta Verapaz, Guatemala in 2012. Demographics and cleft severity scores were retrospectively gathered from 514 patients with isolated OFC at the Children's Hospital of Philadelphia scheduled for surgery from 2012 to 2019 and from 115 patients seen during surgical mission trips to Guatemala City from 2017 to 2020. Risk factors were also gathered prospectively from Guatemalan families. The Guatemalan cohort had a significantly lower prevalence of cleft palate only compared with the US cohort, which may be a result of greater cleft severity in the population or poor screening and subsequent increased mortality of untreated cleft palate. Of those with lip involvement, Guatemalan patients were significantly more likely to have complete cleft lip, associated cleft palate, and right-sided and bilateral clefts, demonstrating an increased severity of Guatemalan cleft phenotype. Primary palate and lip repair for the Guatemalan cohort occurred at a significantly older age than that of the US cohort, placing Guatemalan patients at increased risk for long-term complications such as communication difficulties. Potential OFC risk factors identified in the Guatemalan cohort included maternal cooking-fire and agricultural chemical exposure, poor prenatal vitamin intake, poverty, and risk factors related to primarily corn-based diets. OFC patients who primarily rely on surgical missions for cleft care would likely benefit from more comprehensive screening and investigation into risk factors for more severe OFC phenotypes.

Lobectomy versus gross total resection for glioblastoma multiforme: A systematic review and individual-participant data meta-analysis.

Overall survival (OS)for glioblastoma multiforme (GBM) has a known association with the extent of tumor resection with gross total resection (GTR) typically considered as the upper limit. In certain regions such as the anterior temporal lobe, more extensive resection by means of a lobectomy may be feasible. In our systematic review and meta-analysis, we aimed to compare the outcomes of lobectomy and GTR for GBM. PubMed and Embase were queriedfor studies that compared the outcomes after lobectomy or GTR for GBM. The primary outcomes were OS, progression-free survival (PFS), and Karnofksy Performance Status (KPS) score at the latest follow-up. The secondary outcomes were seizure control at the latest follow-up and complication rates. Meta-analysis for OS and PFS was performed using individual-participant data reconstructed from published Kaplan-Meier curves. Random-effect meta-analysis was performed for KPS. The secondary outcomes were pooled using descriptive statistics. Of the 795 records screened, 6 were included in our study. Meta-analysis revealed that anterior temporal, frontal, or occipital lobectomy was associated with significantly better OS (p < 0.001) and PFS (p < 0.001) than GTR, but not KPS (MD = 6.37; 95% CI=(-13.80, 26.54); p = 0.536). Anterior temporal lobectomy was associated with significantly better seizure control rates than GTR for temporal GBM (OR = 27; 95% CI=(1.4, 515.9); p = 0.002). There was no statistically significant difference in complication rates between anterior temporal, frontal, or occipital lobectomy and GTR. In conclusion, lobectomy was associated with significantly better OS, PFS, and seizure control than GTR for GBM.

Aesthetic evaluation of nasolabial reconstruction using abbe flap in bilateral cleft lip patients with secondary deformities.

BACKGROUND: The Abbe flap is a common technique frequently utilized in secondary surgery for bilateral cleft lip deformities, but objective indications for the Abbe flap remain unclear, and postoperative aesthetic evaluations are limited. METHODS: The study group consisted of 92 bilateral cleft lip patients with secondary deformities aged 7-39 years, and the control group consisted of 33 people aged 19-35 years. Thirteen objective nasolabial aesthetic parameters were selected to evaluate patients' nasolabial aesthetics. RESULTS: Minor secondary deformities were characterized by a smaller lip height index than severe deformities, as well as a smaller columellar angle compared with moderate and severe deformities (P < 0.05). For all patients, significant differences were found between preoperative and postoperative values of intercanthal distance/medial upper vermilion height ratio, intercanthal distance/medial upper lip height ratio, lip height index, lip vermilion height index, lip protrusion angle, columellar-labial angle, and nasal tip angle (P < 0.05). For patients with minor deformity, intercanthal distance/philtrum width ratio and intercanthal distance/medial cutaneous upper lip height ratio showed no significant change postoperatively (P > 0.05), and labial protrusion angle was smaller than the control group (P < 0.05). CONCLUSIONS: Patients undergoing secondary surgery using an Abbe flap achieved good nasolabial aesthetics. Intercanthal distance/medial upper vermilion height ratio, intercanthal distance/medial upper lip height ratio, lip height index, columellar-labial angle, nasolabial angle, nasal tip angle, and columellar angle are the objective aesthetic indicators for Abbe flap selection. Intercanthal distance/philtrum width ratio, intercanthal distance/medial cutaneous upper lip height ratio, and labial protrusion angle are reference parameters for choosing an Abbe flap for secondary bilateral cleft lip revision.

Paediatric ventriculoperitoneal shunt failures: 12-year experience from a Singapore children's hospital.

PURPOSE: Cerebrospinal fluid (CSF) shunt failures in children are devastating. The primary aims of this study are to, firstly, review our institutional series of ventriculoperitoneal shunt (VPS) insertions and identify factors associated with shunt failure. METHODS: This is a single-institution, retrospective study conducted over a 12-year period. All patients under 18 years old with VPS inserted were included. Variables of interest such as patient characteristics, hydrocephalus aetiology, shunt implant details, and outcomes were subjected to statistical analyses. RESULTS: A total of 214 VPS patients were selected for this study. The mean age at VPS insertion was 6 months with a mean follow-up duration of 44 months. The most common type of hydrocephalus was obstructive (n = 142, 66.4%), and the most frequent aetiology was tumour-related (n = 66, 30.8%). The 30-day shunt failure rate was 9.3%: 9 infections (4.2%), 7 occlusions (3.3%), and 4 others (1.9%). After multivariable analysis, only recent central nervous system (CNS) infection prior to VPS insertion remained significant (OR 15.4 (1.3-175), p = 0.028). CONCLUSION: This is the first, large-scale local study focused on the shunt failure in Singaporean children. Significant findings in our study demonstrate that recently treated CNS infection is a factor associated with 30-day shunt failure while the values of CSF constituents were not contributory.

Genomic profiling informs diagnoses and treatment in vascular anomalies.

Vascular anomalies are malformations or tumors of the blood or lymphatic vasculature and can be life-threatening. Although molecularly targeted therapies can be life-saving, identification of the molecular etiology is often impeded by lack of accessibility to affected tissue samples, mosaicism or insufficient sequencing depth. In a cohort of 356 participants with vascular anomalies, including 104 with primary complex lymphatic anomalies (pCLAs), DNA from CD31+ cells isolated from lymphatic fluid or cell-free DNA from lymphatic fluid or plasma underwent ultra-deep sequencing thereby uncovering pathogenic somatic variants down to a variant allele fraction of 0.15%. A molecular diagnosis, including previously undescribed genetic causes, was obtained in 41% of participants with pCLAs and 72% of participants with other vascular malformations, leading to a new medical therapy for 63% (43/69) of participants and resulting in improvement in 63% (35/55) of participants on therapy. Taken together, these data support the development of liquid biopsy-based diagnostic techniques to identify previously undescribed genotype-phenotype associations and guide medical therapy in individuals with vascular anomalies.

Integration of the Cleft-Q Patient Reported Outcome Tool into a Multidisciplinary Cleft and Craniofacial Clinic: A Proof of Concept.

SUMMARY: Implementation of patient reported outcome (PRO) tools has increased internationally in a variety of clinical settings, with emerging evidence suggesting benefits for patient satisfaction, improved patient-provider communication, and management of chronic conditions. However, integrating PROs into clinical workflow remains a barrier to implementation, with common challenges including patient completion, provider review of results, and future accessibility of data. Cleft lip and/or palate (CL/P) presents with a variety of aesthetic, functional, and psychosocial sequelae optimally managed by a multidisciplinary team, and Cleft-Q is a validated twelve-module PRO that captures patient perception in these domains. Given the emerging proven benefits of using PROs in a clinical setting, the authors integrated the Cleft-Q PRO at a multidisciplinary cleft and craniofacial clinic at a large, urban, tertiary care center. We collaborated with our institution's EHR Clinical Informatics Team to automatically identify eligible CL/P patients and generate the Cleft-Q PRO prior to weekly multidisciplinary cleft and craniofacial clinic days. Patient results were automatically scored, compared to age-based normative data, and populated into the EHR patient note. Cleft-Q results were viewed by clinicians during patient visits to initiate module-specific discussion in relation to patient age-based normative results. Patient-specific Cleft-Q data were also discussed during multidisciplinary cleft and craniofacial team discussions to aid in clinical decision making. This experience may have applicability to other PRO tools in plastic surgery and other medical specialties where integrating PROs may yield superior patient experience and outcomes.