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BACKGROUND: Crushed cartilage grafts improve augmentation and contour irregularities in rhinoplasty; however, they are associated with complications including resorption, asymmetries, palpability, and need for revision surgery. METHODS: A systematic review and meta-analysis following the preferred reporting items for systematic reviews and meta-analyses guidelines was performed on all recorded history up to November 2022 using the search query ("crush" or "crushed") AND cartilage AND rhinoplasty for PubMed, World of Science, Embase, and Cochrane online registries. Data were collected on study information, patient demographics, surgical details, and outcomes. Graft resorption and revision surgery were pooled in a random-effects model, and a subgroup analysis was performed for coverage/non-coverage of the cartilage and degree of crushing. RESULTS: The initial search yielded 163 results, with 11 studies included in the final full-text review. A total of 1132 patients were analyzed, with 456 (40.3%) women, mean age of 48.0 years, and an average follow-up period of 24.9 months. Cartilage resorption rates were statistically higher in graft preparation using severely crushed cartilage (3.4%) compared to non-severely crushed cartilage (0.9%, p = 0.049). There was no significant difference in resorption rate for patients with covered cartilage graft (1.3%) compared to those with non-covered grafts (1.8%, p = 0.7). There were significantly more revision surgeries for severely crushed (17.9%) compared to non-severely crushed (3.5%, p = 0.003) cartilage grafts. CONCLUSIONS: Severely crushed cartilage grafting provides smooth contour and less palpability compared to other degrees of crushing but demonstrates significantly higher rate of resorption.
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Complicaciones Posoperatorias , Rinoplastia , Humanos , Rinoplastia/métodos , Rinoplastia/efectos adversos , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/epidemiología , Reoperación/estadística & datos numéricos , Cartílago/trasplanteRESUMEN
OBJECTIVE: Our report describes clinical, genetic, and biochemical features of participants with a molecularly confirmed congenital disorder of glycosylation (CDG) enrolled in the Frontiers in Congenital Disorders of Glycosylation (FCDGC) Natural History cohort at year 5 of the study. METHODS: We enrolled individuals with a known or suspected CDG into the FCDGC Natural History Study, a multicenter prospective and retrospective natural history study of all genetic causes of CDG. We conducted a cross-sectional analysis of baseline study visit data from participants with confirmed CDG who were consented into the FCDGC Natural History Study (5U54NS115198) from October 2019 to November 2023. RESULTS: Three hundred thirty-three subjects consented to the FCDGC Natural History Study. Of these, 280 unique individuals had genetic data available that was consistent with a diagnosis of CDG. These 280 individuals were enrolled into the study between October 8, 2019 and November 29, 2023. One hundred forty-one (50.4%) were female, and 139 (49.6%) were male. Mean and median age at enrollment was 10.1 and 6.5 years, respectively, with a range of 0.22 to 71.4 years. The cohort encompassed individuals with disorders of N-linked protein glycosylation (57%), glycosylphosphatidylinositol anchor disorder (GPI anchor) (15%), disorders of Golgi homeostasis, trafficking and transport (12%), dolichol metabolism disorders (5%), disorders of multiple pathways (6%), and other (5%). The most frequent presenting symptom(s) leading to diagnosis were developmental delay/disability (77%), followed by hypotonia (56%) and feeding difficulties (42%). Mean and median time between first related symptom and diagnosis was 2.7 and 0.8 years, respectively. One hundred percent of individuals in our cohort had developmental differences/disabilities at the time of their baseline visit, followed by 97% with neurologic involvement, 91% with gastrointestinal (GI)/liver involvement, and 88% with musculoskeletal involvement. Severity of disease in individuals was scored on the Nijmegen Progression CDG Rating Scale (NPCRS) with 27% of scores categorized as mild, 44% moderate, and 29% severe. Of the individuals with N-linked protein glycosylation defects, 83% of those with data showed a type 1 pattern on carbohydrate deficient transferrin (CDT) analysis including 82/84 individuals with PMM2-CDG, 6% a type 2 pattern, 1% both type 1 and type 2 pattern and 10% a normal or nonspecific pattern. One hundred percent of individuals with Golgi homeostasis and trafficking defects with data showed a type 2 pattern on CDT analysis, while Golgi transport defect showed a type II pattern 73% of the time, a type 1 pattern for 7%, and 20% had a normal or nonspecific pattern. Most of the variants documented were classified as pathogenic or likely pathogenic using ACMG criteria. For the majority of the variants, the predicted molecular consequence was missense followed by nonsense and splice site, and the majority of the diagnoses are inherited in an autosomal recessive pattern but with disorders of all major nuclear inheritance included. DISCUSSION: The FCDGC Natural History Study serves as an important resource to build future research studies, improve clinical care, and prepare for clinical trial readiness. Herein is the first overview of CDG participants of the FCDGC Natural History Study.
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Trastornos Congénitos de Glicosilación , Humanos , Trastornos Congénitos de Glicosilación/genética , Trastornos Congénitos de Glicosilación/patología , Masculino , Femenino , Estudios Transversales , Niño , Preescolar , Adolescente , Glicosilación , Adulto , Estudios Retrospectivos , Lactante , Adulto Joven , Estudios Prospectivos , Estudios de CohortesRESUMEN
BACKGROUND: Device classification and preclinical data requirements for animal-derived wound care products were recently reviewed by the FDA. Given the possible performance differences for these products, we evaluated the FDA data requirements as well as the published literature for all animal-derived wound care products ever cleared through the FDA. STUDY DESIGN: The publicly available online database was queried for all animal-derived wound products; premarket data requirements for each product were recorded. A PubMed search was conducted to determine the number of published clinical studies for each product, and manufacturer websites were accessed to obtain the price for each product. RESULTS: A total of 132 animal-derived wound products have been cleared by the FDA since the Center for Devices and Radiological Health was established in 1976. Of these, 114 had a publicly available clearance statement online. Preclinical biocompatibility testing was performed in 85 products (74.6%) and referenced in 10 (8.8%). Preclinical animal wound healing testing took place in 17 (14.9%). Only 9 products (7.9%) had clinical safety testing, and no products had clinical effectiveness data. We found no published peer-reviewed clinical data for 97 products (73%). Cost was infrequently available but ranged from $4.79 to $2,178 per unit. CONCLUSIONS: Although the current pathway is appropriate for efficiently clearing new wound care products, clinical effectiveness is not included in the regulatory review process. Wound care products are primarily evaluated by the FDA for safety and biocompatibility. Thus, any claims of clinical effectiveness require independent validation, which is often lacking.
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Aprobación de Recursos , Animales , Estados Unidos , United States Food and Drug Administration , Resultado del Tratamiento , Bases de Datos FactualesRESUMEN
BACKGROUND: The optimal target for systemic oxygenation in critically ill children is unknown. Liberal oxygenation is widely practiced, but has been associated with harm in paediatric patients. We aimed to evaluate whether conservative oxygenation would reduce duration of organ support or incidence of death compared to standard care. METHODS: Oxy-PICU was a pragmatic, multicentre, open-label, randomised controlled trial in 15 UK paediatric intensive care units (PICUs). Children admitted as an emergency, who were older than 38 weeks corrected gestational age and younger than 16 years receiving invasive ventilation and supplemental oxygen were randomly allocated in a 1:1 ratio via a concealed, central, web-based randomisation system to conservative peripheral oxygen saturations ([SpO2] 88-92%) or liberal (SpO2 >94%) targets. The primary outcome was the duration of organ support at 30 days following random allocation, a rank-based endpoint with death either on or before day 30 as the worst outcome (a score equating to 31 days of organ support), with survivors assigned a score between 1 and 30 depending on the number of calendar days of organ support received. The primary effect estimate was the probabilistic index, a value greater than 0·5 indicating more than 50% probability that conservative oxygenation is superior to liberal oxygenation for a randomly selected patient. All participants in whom consent was available were included in the intention-to-treat analysis. The completed study was registered with the ISRCTN registry (ISRCTN92103439). FINDINGS: Between Sept 1, 2020, and May 15, 2022, 2040 children were randomly allocated to conservative or liberal oxygenation groups. Consent was available for 1872 (92%) of 2040 children. The conservative oxygenation group comprised 939 children (528 [57%] of 927 were female and 399 [43%] of 927 were male) and the liberal oxygenation group included 933 children (511 [56%] of 920 were female and 409 [45%] of 920 were male). Duration of organ support or death in the first 30 days was significantly lower in the conservative oxygenation group (probabilistic index 0·53, 95% CI 0·50-0·55; p=0·04 Wilcoxon rank-sum test, adjusted odds ratio 0·84 [95% CI 0·72-0·99]). Prespecified adverse events were reported in 24 (3%) of 939 patients in the conservative oxygenation group and 36 (4%) of 933 patients in the liberal oxygenation group. INTERPRETATION: Among invasively ventilated children who were admitted as an emergency to a PICU receiving supplemental oxygen, a conservative oxygenation target resulted in a small, but significant, greater probability of a better outcome in terms of duration of organ support at 30 days or death when compared with a liberal oxygenation target. Widespread adoption of a conservative oxygenation saturation target (SpO2 88-92%) could help improve outcomes and reduce costs for the sickest children admitted to PICUs. FUNDING: UK National Institute for Health and Care Research Health Technology Assessment Programme.
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Enfermedad Crítica , Hospitalización , Niño , Humanos , Masculino , Femenino , Enfermedad Crítica/terapia , Unidades de Cuidado Intensivo Pediátrico , Oxígeno/uso terapéutico , Reino UnidoRESUMEN
Background: Aspiring medical students behave based on their perception of what is valued in the selection process. While research experience is not explicitly considered in most Canadian admissions policies, it is commonly held as valuable within aspiring medical student communities. The purpose of this study is to describe the perceptions and behaviours of aspiring medical students with respect to gaining research experience in support of their medical school applications. Methods: We surveyed prospective applicants of Canadian medical schools between August 2021 and November 2021, then compiled descriptive statistics pertaining to their perceptions and behaviours. Results: Respondents affirmed the belief that research experience is valued in medical school admissions processes. They reported spending approximately 13 hours per week engaged in research, which usually did not yield publication or presentation recognition. Conclusion: Aspiring medical students invest substantial time and energy in research experiences to benefit their applications. There is room for medical schools to be more transparent about the value of research experience in their admissions processes.
Contexte: Le comportement des candidats aux études de médecine est déterminé par leur perception de ce qui est valorisé dans le processus de sélection. Tandis que la plupart des établissements canadiens ne mentionnent pas explicitement l'expérience en recherche comme prérequis d'admission, les futurs candidats, eux, voient une telle expérience comme un atout précieux. L'objectif de cette étude est de décrire les perceptions et les comportements des futurs étudiants en médecine par rapport à l'acquisition d'une expérience en recherche en appui à leur demande d'admission dans une école de médecine. Méthodes: Nous avons interrogé des postulants potentiels aux programmes de médecine au Canada entre août 2021 et novembre 2021, et nous avons compilé des statistiques descriptives relatives à leurs perceptions et à leurs comportements. Résultats: Les répondants ont affirmé croire que l'expérience en recherche est valorisée dans les processus d'admission aux facultés de médecine. Ils ont déclaré consacrer environ 13 heures par semaine à la recherche, qui, le plus souvent, n'a pas mené à des publications ou des présentations. Conclusion: Les futurs candidats aux études de médecine investissent beaucoup de temps et d'énergie dans des activités de recherche afin d'améliorer leur dossier de candidature. Les facultés de médecine devraient se prononcer de manière transparente sur l'importance attribuée à l'expérience en recherche dans le cadre de leur processus d'admission.
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Estudiantes de Medicina , Humanos , Facultades de Medicina , Canadá , Encuestas y CuestionariosRESUMEN
Background: College of Family Physicians of Canada accreditation policies contemplate exemplary ratings for postgraduate family medicine programs that train residents in sites aligned with the Patient's Medical Home (PMH) vision. This may overrepresent the PMH in training relative to what is available in independent practice. Methods: We appraised training sites to describe the degree to which PMH features are present in family medicine education across the country. Results: More than half (70.7%) of Canadian training sites reflect PMH features. Conclusion: Education policy that incentivizes PMH in training may create downstream tension for physicians who find these practices unavailable upon graduation.
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Medicina Familiar y Comunitaria , Internado y Residencia , Humanos , Canadá , Medicina Familiar y Comunitaria/educación , Médicos de Familia , CurriculumRESUMEN
PURPOSE: Dupuytren disease can be managed with an injection of collagenase Clostridium histolyticum enzyme followed by manual manipulation. Although the recommended time from injection to manipulation is 24-72 hours, patient and physician schedules may not accommodate this time frame. Therefore, we sought to study the impact of time from injection to manipulation on outcomes and complications of collagenase injection. METHODS: We performed a review of 309 patients who underwent an injection of collagenase Clostridium histolyticum for Dupuytren disease with manipulation at two, five, or seven days after injection. We compared preinjection and postinjection contracture angles as well as frequency of skin tears and tendon ruptures. RESULTS: Of the 309 patients, 207 underwent manipulation at two days, 32 at five days, and 70 at seven days. Patients had similar preinjection contracture angles. All patients demonstrated improvement in contracture after manipulation. Rates of skin tears and tendon ruptures were similar in all three groups. Significant predictors of complications included number of cords injected and history of previous collagenase injection, but not history of previous Dupuytren diagnosis. CONCLUSIONS: Although collagenase injection for Dupuytren disease is typically performed with plans for manipulation at 24-72 hours, postinjection manipulation could be performed as late as seven days without adversely affecting the frequency of skin and tendon complications. TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV.
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BACKGROUND: Fat injection has become increasingly popular in aesthetic surgery, but there is a sparsity of literature regarding its role during genioplasty. In this study, we present the largest series of patients receiving fat injections to the chin for various indications. METHODS: Data were collected from January 2016 to December 2021 for patients who underwent chin fat injection for a variety of chin refinements. Patients with chin fat injection were divided into isolated genioplasty with fat injection (CF), combined facial and chin fat injection (CFC) and combined chin fat injection and osseous genioplasty (CFG). Complication rates and reoperations were compared using Fischer's exact test between each cohort. RESULTS: 181 patients were included in final analysis, with 14 patients in CF cohort, 130 patients in CFC cohort, 24 patients in CFG cohort, and 13 patients who underwent genioplasty alone. Repeat fat injections were required in 17 (9.4%) patients overall, which included 14 patients (10.8%) of CFC subcohort and three patients (12.5%) of CFG subcohort (p > 0.05). No patients who underwent genioplasty alone or CF required reoperation. There were no significant differences in complications between genioplasty alone group (0%) in comparison to CF (7.1%; p = 1.00), CFC (6.2%; p = .53), or CFG cohorts (7.7%; p = 1.00). CONCLUSION: Fat injection can safely correct minor chin deficiency or asymmetry, as either an isolated procedure or in combination with osteotomies. Additionally, fat injection enables advancement of the caudal segment to achieve superior outcomes by preventing unaesthetic deepening of labiomental groove which will not be advanced during sliding osteotomy. 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 .
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Cara , Mentoplastia , Humanos , Mentoplastia/métodos , Mentón/cirugía , Osteotomía/métodos , ReoperaciónRESUMEN
Rhinoplasty is a perplexing procedure due to the variety of complex interplays between anatomical structures of the nose and the maneuvers used to accomplish the intended objective. Although every rhinoplasty is individualized, having a systematic order and an algorithm is crucial to achieve the designed aesthetic goals and a superior outcome, considering the interactions between maneuvers. Otherwise, the accumulated, unanticipated effects will result in displeasing outcomes due to over or under correction. In this report, we describe the sequential steps of rhinoplasty based on knowledge that the senior author has garnered over four decades of experience and having studied the rhinoplasty dynamics continually. Furthermore, we explain the detailed reasoning for each maneuver based on surgical indications and the resulting interplays.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 http://www.springer.com/00266.
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Rinoplastia , Humanos , Rinoplastia/métodos , Nariz/cirugía , Estética , Medicina Basada en la Evidencia , Resultado del TratamientoRESUMEN
BACKGROUND: There has recently been a resurgence of interest in preservation rhinoplasty (PR) for dorsal hump elimination or dorsal projection reduction. However, no studies have scrutinized aesthetic outcomes to identify common pattern of flaws seen in published images to aid those with ardent enthusiasm for this technique to become aware of the frequency of these flaws and find ways to reduce imperfections. METHODS: A systematic literature review was performed using search terms ("preservation" OR "let down", "push down") AND "rhinoplasty" on PubMed, Cochrane, SCOPUS, and EMBASE databases for studies between January 2000 and December 2022. Patient images from these studies were analyzed by three reviewers (MWW, IAC, and BG) for dorsal flaws. Raw interrater agreement percentage and Krippendorff's alpha were calculated to determine interrater reliability. A descriptive and comparative analysis with Fisher's exact test was performed for the aggregate data. RESULTS: There were 59 patient images with 464 views from 24 studies included for final analysis. Optimal dorsal aesthetic lines (DAL) were noted in 12 patients (20.3%), while optimal profile was observed in 15 patients (25.4%) (p = 0.66). Combined ideal front and profile view of dorsum was not observed on any patients. The most common flaws were DAL irregularities (n = 45; 78.0%), dorsal deviation (n = 32, 54.2%), and residual hump (n = 25, 42.4%). There was excellent interrater agreement. CONCLUSIONS: While PR may have some advantages, it has shortcomings in outcomes, particularly dorsal irregularities, dorsal deviation, and residual humps. Awareness of these imperfections may compel those performing this procedure to modify their techniques and improve their results. LEVEL OF EVIDENCE III: 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 .
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Procedimientos de Cirugía Plástica , Rinoplastia , Humanos , Estudios de Seguimiento , Reproducibilidad de los Resultados , Resultado del Tratamiento , Rinoplastia/métodos , Estética , Nariz/cirugíaRESUMEN
INTRODUCTION: The underlying principles of preservation rhinoplasty (PR) center around maintaining the soft tissue envelope, dorsum, and alar cartilage through surgical manipulations and tip suture techniques. In particular, the let-down (LD) and push-down (PD) techniques have been described, although reports of indications and outcomes in the literature are sparse. METHODS: A systematic review of the literature was performed using search terms "preservation" OR "let down" OR "push down" AND "rhinoplasty" on PubMed, Cochrane, SCOPUS, and EMBASE databases. Patient demographic information, operative details, and surgical outcomes were recorded. Sub-cohorts for patients who underwent LD and PD techniques were analyzed utilizing Fischer's exact test for categorical variables and Student's t test for continuous variables. RESULTS: Overall, there were 5967 PR patients in 30 studies in the final analysis, with 307 patients in the PD cohort and 529 patients in the LD cohort. The Rhinoplasty Outcome Evaluation Questionnaire showed a significant increase of patient satisfaction after PR compared to before PR (62.13 vs 91.14; p < 0.001). There was a significantly lower rate of residual dorsal hump or recurrence of 1.3% (n = 4) in the PD when compared to 4.6% (n = 23) in LD cohorts (p = 0.02). The revision rate of PD (0%, n = 0) was also significantly lower than that of LD (5.0%, n = 25) (p < 0.001). CONCLUSION: Based on these published articles, it seems that preservation rhinoplasty is safe and efficacious procedure with improved dorsal aesthetic lines, reduced dorsal contour irregularities, and claimed excellent patient satisfaction. In particular, the PD technique has fewer reported complications and revisions than LD approach, although PD is often indicated in patients with smaller dorsal humps. LEVEL OF EVIDENCE III: 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 .
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Rinoplastia , Humanos , Rinoplastia/métodos , Estudios de Seguimiento , Resultado del Tratamiento , Cartílagos Nasales/cirugía , Satisfacción del Paciente , Estética , Nariz/cirugía , Tabique Nasal/cirugía , Estudios RetrospectivosRESUMEN
BACKGROUND: Minimally invasive techniques for treatment-resistant migraine have been developed on recent insights into the peripheral pathogenesis of migraines. Although there is a growing body of evidence supporting these techniques, no study has yet compared the effects of these treatments on headache frequency, severity, duration, and cost. METHODS: PubMed, Embase, and Cochrane Library databases were searched to identify randomized placebo-controlled trials that compared radiofrequency ablation, botulinum toxin type A (BT-A), nerve block, neurostimulation, or migraine surgery to placebo for preventive treatment. Data on changes from baseline to follow-up in headache frequency, severity, duration, and quality of life were analyzed. RESULTS: A total of 30 randomized controlled trials and 2680 patients were included. Compared with placebo, there was a significant decrease in headache frequency in patients with nerve block ( P = 0.04) and surgery ( P < 0.001). Headache severity decreased in all treatments. Duration of headaches was significantly reduced in the BT-A ( P < 0.001) and surgery cohorts ( P = 0.01). Quality of life improved significantly in patients with BT-A, nerve stimulator, and migraine surgery. Migraine surgery had the longest lasting effects (11.5 months) compared with nerve ablation (6 months), BT-A (3.2 months), and nerve block (11.9 days). CONCLUSIONS: Migraine surgery is a cost-effective, long-term treatment to reduce headache frequency, severity, and duration without significant risk of complication. BT-A reduces headache severity and duration, but it is short-lasting and associated with greater adverse events and lifetime cost. Although efficacious, radiofrequency ablation and implanted nerve stimulators have high risks of adverse events and explantation, whereas benefits of nerve blocks are short in duration.
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Toxinas Botulínicas Tipo A , Trastornos Migrañosos , Bloqueo Nervioso , Humanos , Calidad de Vida , Trastornos Migrañosos/cirugía , Trastornos Migrañosos/tratamiento farmacológico , Toxinas Botulínicas Tipo A/uso terapéutico , Cefalea , Ensayos Clínicos Controlados Aleatorios como AsuntoRESUMEN
ATP6AP1-CDG is an X-linked disorder typically characterized by hepatopathy, immunodeficiency, and an abnormal type II transferrin glycosylation pattern. Here, we present 11 new patients and clinical updates with biochemical characterization on one previously reported patient. We also document intrafamilial phenotypic variability and atypical presentations, expanding the symptomatology of ATP6AP1-CDG to include dystonia, hepatocellular carcinoma, and lysosomal abnormalities on hepatic histology. Three of our subjects received successful liver transplantation. We performed N-glycan profiling of total and fractionated plasma proteins for six patients and show associations with varying phenotypes, demonstrating potential diagnostic and prognostic value of fractionated N-glycan profiles. The aberrant N-linked glycosylation in purified transferrin and remaining plasma glycoprotein fractions normalized in one patient post hepatic transplant, while the increases of Man4GlcNAc2 and Man5GlcNAc2 in purified immunoglobulins persisted. Interestingly, in the single patient with isolated immune deficiency phenotype, elevated high-mannose glycans were detected on purified immunoglobulins without glycosylation abnormalities on transferrin or the remaining plasma glycoprotein fractions. Given the diverse and often tissue specific clinical presentations and the need of clinical management post hepatic transplant in ATP6AP1-CDG patients, these results demonstrate that fractionated plasma N-glycan profiling could be a valuable tool in diagnosis and disease monitoring.
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Trastornos Congénitos de Glicosilación , ATPasas de Translocación de Protón Vacuolares , Humanos , Trastornos Congénitos de Glicosilación/genética , Glicoproteínas/metabolismo , Transferrina/metabolismo , Fenotipo , Polisacáridos , Hidrolasas/genética , Inmunoglobulinas/genética , Inmunoglobulinas/metabolismo , ATPasas de Translocación de Protón Vacuolares/genéticaRESUMEN
Congenital disorders of glycosylation (CDG) and Niemann-Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile-onset severe liver disease and other multisystemic manifestations. Plasma bile acid and N-palmitoyl-O-phosphocholineserine (PPCS) are screening biomarkers with proposed improved sensitivity and specificity for NPC. We report an infant with ATP6AP1-CDG who presented with cholestatic liver failure and elevated plasma oxysterols and bile acid, mimicking NPC clinically and biochemically. On further investigation, PPCS, but not the bile acid derivative N-(3ß,5α,6ß-trihydroxy-cholan-24-oyl) glycine (TCG), were elevated in plasma samples from individuals with ATP6AP1-, ALG1-, ALG8-, and PMM2-CDG. These findings highlight the importance of keeping CDG within the diagnostic differential when evaluating children with early onset severe liver disease and elevated bile acid or PPCS to prevent delayed diagnosis and treatment.
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Trastornos Congénitos de Glicosilación , Enfermedad de Niemann-Pick Tipo C , Oxiesteroles , ATPasas de Translocación de Protón Vacuolares , Lactante , Niño , Humanos , Glicosilación , Ácidos y Sales Biliares , HidrolasasRESUMEN
BACKGROUND: Lower lateral cartilage repositioning (LLCR) is an effective technique that places the lateral crus in a newly created caudal pocket, and is utilized for a variety of indications including cephalic malposition, alar asymmetries and tip rotation/projection alteration. However, there is a relative sparsity in the literature regarding this procedure and the dynamic changes that it produces. In this study, we report our experience with LLCR in regard to its indications and related interplays. METHODS: Data from our institution were collected from the most recent 100 primary rhinoplasties, most recent 100 secondary rhinoplasties and all LLCRs performed. For each LLCR, patient demographics and concurrent surgical techniques were compiled. A descriptive analysis was performed for all cohorts, while Fischer's exact test was performed to compare the associations of categorical data for the respective sample sizes of the primary and secondary rhinoplasty cohorts. RESULTS: Overall, 127 patients underwent LLCR, with eleven (11%) LLCRs in the primary rhinoplasty cohort and twelve (12%) LLCRs in the secondary rhinoplasty cohort. The most common indication for LLCR was cephalic malposition, followed by over-projection and asymmetry of the lower lateral cartilages. Intraoperative observation of dynamic changes included invariable cephalic rotation of the tip, ability to precisely control the tip projection, drastic narrowing of the domal arch often minimizing the need for the transdomal suture, alar repositioning caudally, correction of alar retraction and more elegant tip definition. However, the external valve lost its strength on majority of LLCR patients, which required almost routine use of Gunter lateral crus strut. CONCLUSION: LLCR is a powerful and versatile tool that can be utilized in either primary or secondary rhinoplasty. Its transposition results in cephalic rotation of the tip, narrowing of the domal arch, caudal reposition of the alar rim and superior tip definition. 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.
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Rinoplastia , Humanos , Cartílago/cirugía , Cartílagos Nasales/cirugía , Tabique Nasal/cirugía , Nariz/cirugía , Reoperación/métodos , Rinoplastia/métodos , Técnicas de Sutura , Resultado del TratamientoRESUMEN
Use of acellular dermal matrices (ADMs) for tissue expander breast reconstruction remains controversial with an uncertain safety and efficacy profile. This study analyzes the rates and factors for reoperation and postoperative infection in patients who underwent tissue expander breast reconstruction with and without ADM. Methods: Patients who underwent breast reconstruction with and without ADM were identified from the National Surgical Quality Improvement Program database utilizing CPT codes. Covariates included patient demographics, preoperative comorbidities, and operative characteristics, while outcomes of interest were postoperative infection and reoperation. Univariate and multivariate analyses were performed to identify predictors of adverse outcomes. Results: There were 8334 patients in the ADM cohort and 12,451 patients who underwent tissue expander breast reconstruction without ADM. There were significantly fewer reoperations in the non-ADM cohort (5.4%) compared to the ADM cohort (7.7%) (P < 0.0001), with infection and hematoma as the most common etiologies in both cohorts. Surgical infections were also more prevalent in the ADM cohort (4.7%) compared with the non-ADM cohort (3.6%) (P < 0.0001). Univariate and multivariate analysis of the tissue expander breast reconstruction cohort revealed race, obesity, hypertension, smoking status, albumin, and operative time as predictive for infection risk, while race, obesity, hypertension, smoking, albumin, operative time, and age were significant for reoperation. Conclusion: Our study of 20,817 patients revealed significantly higher risk of infection and reoperation in patients who underwent breast reconstruction utilizing ADM versus without ADM. Patients considering ADM for breast reconstruction should engage in discussion with their surgeon about complications, aesthetics, and cost.
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INTRODUCTION: Facial transplantation has emerged as a viable option in treating devastating facial injuries.Despite the high healing rate of Le Fort III and bilateral sagittal split osteotomies (BSSO) in nontransplant patients, few studies have reported assessment of maxillary and mandibular healing in face transplant patients compared with nontransplant patients. The aim of this study was to examine differences in bone healing in our patients. PATIENTS AND METHODS: A retrospective chart review was conducted of facial allotransplantation patients at the Cleveland Clinic from December 2008 to inception. Demographics such as age, date of birth, and sex were recorded. Additional variables included procedures, revisions, reoperations, medications, and bone stability and healing. Computed tomography (CT) images assessed the alignment of skeletal components, bony union quality, and stability of fixation. RESULTS: Three patients were included: 2 had Le Fort III segment transplantation, and 1 had transplantation of both a Le Fort III segment and mandibular BSSO. The Le Fort III segment in all patients exhibited mobility and fibrous union at the Le Fort III osteotomy on CT. In contrast, the BSSO healed uneventfully after transplantation and revision surgery, with bony union confirmed by both CT and histology of the fixation area between the donor and recipient mandible bilaterally. No patients with midfacial fibrous union required revision of the nonunion as they were clinically asymptomatic. CONCLUSION: Le Fort osteotomy demonstrates inferior healing in facial transplantation compared with the nontransplant population. In contrast, the successful healing in the mandible is likely owing to the high density of rich cancellous bone.
Asunto(s)
Trasplante Facial , Humanos , Estudios Retrospectivos , Maxilar/patología , Mandíbula , Osteotomía Le Fort/métodosRESUMEN
Introduction: Vascularized lymph node transfer (VLNT) restores physiological lymphatic function. Although effective, postoperative impairment of donor-site lymphatic function and iatrogenic lymphedema following lymph node transfer remains a pressing concern. Methods: Prospective analysis of VLNT patients undergoing dual fluorescent tracers-assisted harvest was performed at our institution from September 2013 to April 2022. Reverse lymphatic mapping of the lower extremity was performed with indocyanine green (ICG). Blue dye was utilized in both white light and near-infrared spectra for visualization of donor-site lymphatic structures. Demographics, intraoperative details, and surgical outcomes were recorded. Results: Twenty-five patients were included. Median age was 52.9 years with a body mass index of 29.1 kg/m2 and mean follow-up of 44 months (range 24 to 90 months). Lymphedema stage ranged from Campisi 2 to 4. Inguinal VLNT was performed in 13 patients, and 12 patients received combined VLNT and free flap breast reconstruction. No patients required change in lymph node donor site intraoperatively. All ICG stained nodes were preserved in situ. No cases of iatrogenic lower extremity lymphedema were observed. Postoperative bioimpedance spectroscopy, circumferential, and volumetric measurements of the donor-site limb did not show evidence of subclinical or clinical lymphedema. The donor site healed appropriately in 92% of patients; one patient developed methylene blue-induced skin necrosis. Conclusion: Reverse lymphatic mapping and surgical guidance with dual ICG and blue dye fluorescent tracers provides surgeons with real-time surgical guidance without radioisotope, improves surgical visualization in both white light and near-infrared spectra, and avoids iatrogenic lymphatic dysfunction in the donor limb.