Malformaciones müllerianas: actualización y revisión a propósito de casos clínicos, 2022 / Müllerian malformations: update and review of clinical cases, 2022

Las malformaciones müllerianas (MM) son un grupo de anomalías estructurales originadas por fallas de desarrollo de los conductos paramesonéfricos o de Müller durante las primeras 16 semanas de gestación. Un oportuno diagnóstico y una correcta clasificación permiten ofrecer el mejor manejo y diferenciar aquellas pacientes que requieren tratamiento quirúrgico. Se realizó una revisión de la literatura sobre MM en las bases de datos Epistemonikos, SciELO, Cochrane y PubMed. Se rescataron todas las pacientes ingresadas con diagnóstico de MM. En el año 2021, la American Society of Reproductive Medicine publicó un consenso en el que se estandarizó la nomenclatura, se amplió el espectro y se simplificó la clasificación. La clínica es variada, e incluye pacientes asintomáticas cuyo diagnóstico es un hallazgo por imágenes. Los mejores estudios imagenológicos son la resonancia magnética (RM) y la ultrasonografía 3D, dejando la histeroscopia y la laparoscopia (método de referencia) como procedimiento diagnóstico-terapéutico. Se presentan casos clínicos desarrollados durante el primer trimestre de 2022. Recomendamos la utilización sistemática de la RM para el diagnóstico de anomalías complejas u obstructivas del aparato genital. El tratamiento de estas patologías debe ser realizado por ginecólogos endoscopistas expertos, e incluye tratamiento médico y quirúrgico, el cual debe ser enfocado en cada paciente dependiendo del tipo de MM y de los deseos de fertilidad.

Müllerian malformations (MM) are a group of structural anomalies caused by developmental failure of the paramesonephric or Müllerian ducts during the first 16 weeks of gestation. Timely diagnosis and classification allow us to offer the best management and to differentiate those patients who require surgical treatment. Literature review on MM in Epistemonikos, SciELO, Cochrane and PubMed databases. All patients admitted with a diagnosis of MM were rescued. In 2021, the American Society of Reproductive Medicine publishes a consensus where it standardizes the nomenclature, broadens the spectrum, and simplifies the classification. The clinical picture is varied and includes asymptomatic patients whose diagnosis is an imaging finding. The best imaging studies are magnetic resonance imaging (MRI) and 3D ultrasonography, leaving hysteroscopy and laparoscopy (gold standard) as diagnostic therapeutic. Clinical cases developed during the first trimester 2022 are presented. We recommend the routine use of MRI for the diagnosis of complex and/or obstructive anomalies of the genital tract. The treatment of these pathologies should be performed by expert endoscopic gynecologists and include medical and surgical treatment, which should be focused on each patient, depending on the type of MM and fertility desires.

Laryngeal cleft: A literature review.

INTRODUCTION: Laryngeal cleft is a congenital condition in which an opening in the posterior laryngotracheal wall allows food and liquid to pass from the esophageal lumen to the airway and causes aspiration. The severity of a laryngeal cleft is measured using the Benjamin-Inglis system, and can be managed conservatively or with a variety of surgical options With increased awareness, higher suspicion among primary physicians, advanced technology and improved intensive neonatal care services, more babies with laryngeal clefts survive in the modern era. Therefore, the focus has shifted from infant survival to treatment of laryngeal clefts and the challenging, complex medical conditions they create. OBJECTIVE: To understand current laryngeal cleft management and post-operative outcomes. METHODS: Literature review of laryngeal cleft studies from 2010 to 2021. RESULTS: A total of 1033 patients were included. Based on 415 cases for whom sufficient classification data were available, the predominate symptom for patients with type I, III, and IV clefts is swallowing dysfunction, while the predominant symptoms for patients with type II clefts are stridor and aspiration. A wide variety of comorbidities involving several major organs has been reported with laryngeal clefts, which tend to impact clinical outcomes negatively. Approximately 19% of type I clefts have been treated conservatively successfully, but the majority was treated surgically. Most studies that used injection laryngoplasty for type I clefts reported highly successful repairs without complications or delays in additional procedures. Ninety-eight percent all type II clefts were treated with endoscopic repair; 87% of patients with type III clefts received endoscopic repair; and 66% of patients with type IV clefts underwent open surgery. Approximately 62% of resolved cases were reported within 12 months, while 50.87% of failed cases were reported within 6 weeks. CONCLUSIONS: There are multiple treatment approaches, each of which may be applicable depending on factors such as laryngeal cleft type, severity of presentation, and comorbidities. Conservative approaches appear to be most useful for type I clefts or in patients with mild symptoms, while surgical management can be considered for any type of laryngeal cleft. The benefit of injection laryngoplasty, endoscopic repair and open surgery can also vary, but injection laryngoplasty and endoscopic repair are used most commonly. Open surgery should be to be considered if patients present with severe cleft types or if it is unsafe to perform other surgical techniques. Familiarity with this literature review should help clinicians understand clinical characteristics, direct medical management, and guide successful resolution of laryngeal clefts.

Association of Gestational Opioid Exposure and Risk of Major and Minor Congenital Malformations.

Importance: The rapid increase of opioid-related overdoses and deaths has become a public health concern in the US. Use of prescription opioids in pregnant women has increased; results from teratogenicity studies remain controversial. Objective: To evaluate the association between maternal prescription opioid use (excluding opioid use disorders) during pregnancy and the incidence of congenital malformations. Design, Setting, and Participants: This retrospective population-based cohort study evaluated linked Rhode Island Medicaid claims and vital statistics data of live births from January 1, 2008, to December 31, 2016. Data analysis was conducted from May 1, 2019, to May 31, 2020. Women who had a live birth during the study period, but no cancer or opioid use disorder, were followed up from 3 months before pregnancy to the end of pregnancy. Exposures: Data on the mother's prescription opioid exposure were obtained through pharmacy claims and exposure was defined as dispensing of at least 1 prescription opioid during the first, second, or third trimester. Main Outcomes and Measures: The primary outcome was overall major or minor congenital malformations, defined as 1 or more major or minor congenital malformation. Secondary outcomes were defined as 10 specific categories of congenital malformations classified by organ systems using International Classification of Diseases diagnosis codes. Results: Of 12 424 included pregnancies, 891 mothers (7.2%) received prescription opioids during pregnancy and 3153 infants (25.4%) were diagnosed with major or minor congenital malformations. Comparing prescription opioid exposure vs nonexposure, no excess risk was observed for major birth defects in infants with opioid exposure in trimester 1 (adjusted relative risk [aRR], 1.40; 95% CI, 0.84-2.34), and higher risks were found for overall minor birth defects in trimester 3 (aRR, 1.26; 95% CI, 1.04-1.53) and minor birth defects in the musculoskeletal system in trimester 2 (aRR, 1.50; 95% CI, 1.10-2.03) and trimester 3 (aRR, 1.65; 95% CI, 1.23-2.22). Significant dose responses in selected minor malformations and effects of specific opioids were also identified. Hydrocodone in trimester 2 (aRR, 3.01; 95% CI, 1.80-5.03) and oxycodone in trimester 3 (aRR, 2.43; 95% CI, 1.37-4.02) were associated with plagiocephaly, polydactyly, and other specified congenital deformities of the hip. Conclusions and Relevance: The findings of this study suggest a higher risk of minor congenital malformations associated with use of prenatal prescription opioids in trimester 3, which seems to be dose-dependent. Further investigation is needed to establish causality and explore the physiologic plausibility of the association.

Management of Type 1 Laryngeal Clefts: A Systematic Review and Meta-analysis.

OBJECTIVE: Endoscopic surgical management or injection laryngoplasty of type 1 laryngeal clefts in pediatric patients is used in those who do not respond to conservative treatment. This study compares conservative treatment, endoscopic surgical repair, and injection laryngoplasty for the management of type 1 laryngeal clefts. DATA SOURCES: PubMed, Web of Science, and Embase. REVIEW METHODS: This systematic review included studies of patients with type 1 laryngeal clefts who were managed with conservative treatment, injection laryngoplasty, or endoscopic repair, and all studies reported postintervention outcomes. Two independent investigators assessed study eligibility, rated the quality, and extracted data for analysis. A random effects model was used for meta-analysis of pooled data. RESULTS: Of the 1209 studies identified, 27 met inclusion criteria. There were 543 patients with type 1 laryngeal clefts represented in the studies, with outcomes reported for 537. Conservative therapy had a 52% (95% CI, 37%-66%; I2 = 63%) success rate at improving symptoms, while endoscopic repair had a significantly higher percentage resolution of symptoms (70%; 95% CI, 59%-79%; I2 = 62%, P < .001) as compared with conservative treatment (51%; 95% CI, 36%-65%; I2 = 62%) or injection laryngoplasty (36%; 95% CI, 20%-57%; I2 = 70%). The quality scores of the studies ranged from 7 to 12 out of 16. CONCLUSION: Our systematic review demonstrated significant improvement and resolution of symptoms for patients with type 1 laryngeal clefts treated with endoscopic repair as compared with other modalities. More prospective and controlled studies comparing treatment strategies with validated instruments to measure outcomes are necessary to determine their efficacy in the management of type 1 laryngeal clefts.

Modified Woodward Technique for Sprengel Deformity and a Modification of the Cavendish Classification.

INTRODUCTION: Sprengel deformity (SD) is the most common congenital anomaly of the shoulder. Surgery is required for moderate and severe forms. The modified Woodward procedure is the most widely used procedure for the surgical treatment. METHODS: SD patients who applied to our institution between 2005 and 2018 were retrospectively reviewed. A modification of the Cavendish classification was used for preoperative and postoperative evaluations. RESULTS: Eighteen shoulders of 17 (mean age: 8.5 y, range: 2 to 18 y, 5 males and 12 females) patients were included. The right, left, and bilateral shoulders were affected in 9, 7, and 1 cases, respectively. The mean follow-up time was 62.9 months (12 to 161 mo). Preoperatively, 3 shoulders were type 2, 12 shoulders were type 3, and 3 shoulders were type 4 according to the Cavendish classification and 2 shoulders were type 0, 6 shoulders were type 1, and 10 shoulders were type 2 postoperatively. CONCLUSIONS: Periscapular congenital malformations play a significant role in range of motion limitation. The modified Woodward procedure is a viable alternative in the surgical treatment of SD and the proposed modification of Cavendish classification (grade 0) is functional.

[Congenital middle ear malformation: clinical analysis and discussion of classification].

Objective: To analyze the clinical characteristics and appropriate surgical procedures, and discuss the classification of congenital middle ear malformation. Methods: All cases were from the Center of Otorhinolaryngology, the Sixth Medical Center of Department of PLA General Hospital. All of these cases, including 26 male patients (ears) , 10 female patients (11 ears) , aged from 7 to 57 years old, had normal external auditory canal, tympanic membrane, conductive hearing loss, type A tympanogram and negative Gelle's test. Tympanoplasty was performed in all cases. The deformity was classified to three types,i.e., Type I (stapes foot plate mobility): Ⅰa, ossicular chain deformity with normal stapes suprastructure; Ⅰb, ossicular chain deformity with abnormal stapes suprastructure; Type Ⅱ (stapes foot plate fixation): Ⅱ a,normal ossicular chain, Ⅱ b, ossicular chain malformation; and Type Ⅲ: vestibular window osseous atresia or undeveloped, or with round window atresia. The malformation of type Ⅱ and Ⅲ may be accompanied with abnormal facial nerve. In addition, the papers on middle ear malformation published from 1982 to 2017 were analyzed retrospectively. The clinical data of 451 ears malformation were summarized. Results: According to the revisional classification criteria in 37 ear samples from our hospital, 20 ears were type I. 6 type Ⅰa cases were used PORP (partial ossicular replacement prosthesis) to reconstruct the ossicular chain; 14 type Ⅰb cases were used TORP (total ossicular replacement prosthesis) to reconstruct the ossicular chain. For the 5 ears of type Ⅱ, 2 of which were type Ⅱ a and 3 were type Ⅱ b. 4 ear samples of type Ⅱ were implanted with Piston ossicular prosthesis, 1 was implanted with TORP in which the ossificated foot plate was removed with periosteum preserved. 12 ear samples were type Ⅲ, with vestibular window osseous atresia, facial nerve malformation, and stapes suprastructure malformation. The pistons ossicular prosthesis were implanted in vestibular window in 3 ears with facial nerve covering vestibular window partially. The surgery had to be given up in 5 ears, and TORP was implanted in 4 ears at the opening with preserved periosteum at the beginning of the tympanic scala because of facial nerve covering vestibular window totally. 30 ears with complete follow-up data had no sensorineural hearing loss and the average air-bone conduction decreased 23.3±10.7 dB (P<0.05).There were 234 ears of type Ⅰ in 451 ears of congenital middle ear malformation reported in the literature. 113 of which were type Ⅰa, the basic surgery was ossicular chain shaking and artificial or autogenous PORP implantation. Type Ⅰb was 121 ears, with autogenous or artificial TORP and PORP. Type Ⅱ was125 ears, including type Ⅱa 22 ears, Ⅱb 60 ears, and no subclassification for 43 ears. The surgery of type Ⅱ was the same as otosclerosis. The vestibular window atresia of type Ⅲ was 92 ears, the surgery of 17 ears had to be abandoned, the other ears underwent vestibular window, promontory or semicircular canal opening to reconstruct hearing with Piston, autogenous or artificial TORP. Conclusion: Referring to the classification of congenital middle ear malformation combining with appropriate surgical materials and methods, otologists can better understand and choose appropriate surgical method to the middle ear malformation.

Spectrum of Type I and Type II Syndromes and Associated Malformations in Chinese Patients with Mayer-Rokitansky-Küster-Hauser Syndrome: A Retrospective Analysis of 274 Cases.

STUDY OBJECTIVE: To analyze the spectrum of type I and type II malformations in Chinese patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: This was a cross-sectional descriptive study that used data from a National Clinical Research Center for Obstetrical and Gynecological Diseases of China, reviewed from January 2009 to July 2017. Data of in- and outpatients with MRKH syndrome were reviewed and analyzed. RESULTS: A total of 274 cases were included in the analysis: 197/274 (71.9%) with type I MRKH syndrome and the remaining 77/274 (28.1%) with type II MRKH syndrome. The rate of concurrent deformities was 32/244 (13.1%) for renal malformation, and 49/125 (39.2%) for skeletal malformation. Nine patients had renal and skeletal malformations (Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia). Cardiac, neurologic, and other malformations (eg, anal atresia) were sporadic. The percentage of type II MRKH syndrome in our cohort was considerably higher than that reported 43/594 (7.2%) in a previous large-scale study in southern China, but lower than that 489/1259 (46.2%) reported for Caucasian individuals. CONCLUSION: The spectrum of type I and type II MRKH syndrome varies across different races and geological locations.

Diseño de un protocolo de telegenética como asistencia al proceso de diagnóstico y registro de los recién nacidos con anomalías congénitas en las regiones de Los Lagos y de Arica y Parinacota / Design of a telegenetic protocol to assist in the diagnosis and registration process of newborns with congenital anomalies in the Los Lagos and Arica and Parinacota regions

The majority of clinical geneticists in Chile work in the Metropolitan Region (78%). To expand the area of Telemedicine and support the management of the Ministry of Health, we present this Telegenetics development project that includes innovation of assistance and educational nature directed to regions. The implementation of the National Registry of Congenital Anomalies in Chile (RENACH) in the public and private systems, in December 2015, and the obligation to record and describe the anomalies in all newborns, constitutes a favorable scenario that would benefit from the support of clinical geneticists. This proposal brings together a team of 18 specialists and 6 fellows, professionals from different Universities and / or Hospitals of Health Services, in a collaborative project in the area of clinical genetics, which, supported by the HCUCH + CIMT Telemedicine project, will contribute to two regions of Chile better tools for the diagnosis and comprehensive management of newborn patients with congenital anomalies. It can serve as a pilot for a new way to support the registration of malformations throughout Chile and teach clinical genetics concepts. The expected benefits are to improve the quality of care and health management in patients with little-known diseases. (AU)

Caracterización fenotípica de pacientes sometidos a autopsia perinatal en el Hospital Universitario San Ignacio / Phenotypical Characterization of Patients Submitted to Perinatal Autopsy at the Hospital Universitario San Ignacio

Introducción: Los trastornos cromosómicos son causa de alta mortalidad en el grupo de edad fetal y perinatal; sin embargo, los estudios citogenéticos o moleculares todavía no se realizan rutinariamente en el medio colombiano. Métodos: Estudio que caracteriza la morfología de pacientes sometidos a autopsia perinatal en el HUSI durante 2012 y 2013, con la impresión diagnóstica de trastorno cromosómico y se revisan las características clínicas prenatales. Resultados: Se incluyeron 42 casos; la mayoría contaba con placenta, correspondían al segundo trimestre de la gestación (mediana de 15,5 semanas) y las madres estaban entre los 18 y los 35 años. Los cambios morfológicos predominaron en cabeza, cuello y extremidades. Conclusiones: El conocimiento de los cambios morfológicos desde la autopsia perinatal es una herramienta que complementa el análisis de la mortalidad en este grupo de edad.

Introduction: Chromosomal disorders are a cause of high mortality in the fetal and perinatal age group; however, cytogenetic or molecular studies are not routinely performed in our setting. Methods: Study where the morphology of patients undergoing perinatal autopsy in the HUSI during 2012 and 2013 is characterized, with the diagnostic impression of chromosomal disorder and the prenatal clinical characteristics are reviewed. Results: Forty-two cases were included. The majority of cases had placenta, corresponded to the second trimester of pregnancy (median of 15.5 weeks) and mothers were between 18 and 35 years. The morphological changes predominated in the head, neck and extremities. Conclusions: The knowledge of the morphological changes from perinatal autopsy is a tool that complements the analysis of mortality in this age group.

Effectiveness of endoscopic septoplasty in different types of nasal septal deformities: our experience with NOSE evaluation.

Septal deviations are the most frequent cause of nasal obstruction, and represent a common complaint in rhinologic practice. Since the first description of Lanza et al. in 1991, the use of the endoscope for the correction of septal deformities is increasingly more frequent. The purpose of this study is to evaluate the effectivenes of the endoscopic septoplasty for the correction of each of the 7 types of septal deformities according to the Mladina's classification. A retrospective chart review was performed in 59 consecutive patients presenting to our Department for Endoscopic Septoplasty from February 2012 to August 2014. For each deviation, descriptive statistics (mean and standard deviation, significant increase/decrease) was used to asses the corrective capacity and time-dependent effects at follow-up. This study shows that the corrective power of endoscopic septoplasty is different according to the type of deviation. To our knowledge this is the first study that evaluates the corrective capacity of this technique for each deviation by analysing pre- and postoperative objective outcomes as well as subjective outcomes gathered from the validated NOSE questionnaire. Even if endoscopic septoplasty may now be considered a reliable alternative to the classic technique, it is essential to identify the right deformity preoperatively in order to provide the correct therapeutic choice.

Cardiopatías congénitas en edad pediátrica, aspectos clínicos y epidemiológicos / Congenital heart disease in pediatric age, clinical and epidemiological aspects

RESUMEN Las malformaciones cardíacas congénitas constituyen un perfil de mortalidad que se planifica modificar de acuerdo con los objetivos, propósitos y directrices declarados por el Ministerio de Salud Pública. Para los pediatras es una preocupación el control de la morbilidad y mortalidad por esta causa, así como las acciones que contribuyen a facilitar las prioridades de salud de acuerdo a la evaluación de los resultados alcanzados en los programas y servicios implementados en relación con estas afecciones, por lo que el estudio de las cardiopatías congénitas deviene en una prioridad. Ante esta situación se decidió describir las características generales de esta afección mediante una revisión bibliográfica donde se expongan sus principales manifestaciones clínicas, factores etiológicos, clasificación, fisiopatología, aspectos demográficos, diagnóstico y tratamiento. Para ello se realizó una revisión bibliográfica de los trabajos más relevantes publicados a escala nacional e internacional y con ello contribuir en el proceso de educación médica continuada que se está ejecutando en la Universidad Médica y en todo el sector salud en nuestra provincia. Adicionalmente, el trabajo pudiera facilitar la creación de planes de acción que permitan en el futuro disminuir la prevalencia de cardiopatías congénitas en la provincia (AU).

ABSTRACT Congenital cardiac malformations constitute a mortality profile that is planned to be modified in accordance with the objectives, purposes and guidelines declared by the Ministry of Public Health. For pediatricians, it is a concern to control morbidity and mortality for this cause, and actions that contribute to facilitate health priorities with the evaluation of the results achieved in the programs and services implemented in relation to these conditions, the study of congenital heart disease becomes a priority. In view of this situation, the general objective of this condition is to describe the general characteristics of this condition by means of a bibliographical review that brings together its main clinical manifestations, etiological factors, classification, pathophysiology, demographic aspects, diagnosis and treatment. This will raise the level of knowledge about these diseases to identify risk factors preconceptionally and establish action plans that will in the future reduce the prevalence of congenital heart disease in the province (AU).

Appendiceal Duplication: A Comprehensive Review of Published Cases and Clinical Recommendations.

BACKGROUND: Duplex appendix is very rare (incidence 0.004%) but has clinical relevance given the frequency of appendicectomies performed. Failure to recognise duplication can result in failure of treatment and medico-legal consequences. A review of published cases was undertaken to identify factors that may help in managing this rare condition. METHODS: All English and non-English publications were identified in PubMed, Embase and Cochrane databases. Patient demographics, intraoperative findings, anatomical details and histopathology were analysed. RESULTS: A total of 141 cases were identified [male/female ratio 1.4:1, median age 20 years (range foetus to 69 years)]. Duplication of the appendix ranges from branching of the appendix trunk to a fully matured appendix located elsewhere along the colon. Most can be categorised by the Cave-Wallbridge classification. There were 22 Type A, 8 Type B1, 46 Type B2 and 10 Type C cases (Cave-Wallbridge). There were six cases of horseshoe and two cases of triple appendix. Six reports gave anatomical descriptions that could not be classified by Cave-Wallbridge categories and in 11 cases there were no anatomical descriptions. CONCLUSIONS: An anteriorly placed appendix, away from the convergence of the taenia, or a normal appendix in the presence of convincing clinical or radiological signs of appendicitis should instigate a careful examination of the caecal pole and possible exploration of the retrocaecal space for appendiceal duplication. If the patient had previous surgery for congenital abnormalities, Type B1 or Type C duplication should be considered.

Proposal of a Classification System for the Assessment and Treatment of Prominent Ear Deformity.

BACKGROUND: Prominent ear is the most common external ear deformity. To comprehensively treat prominent ear deformity, adequate comprehension of its pathophysiology is crucial. In this article, we analyze cases of prominent ear and suggest a simple classification system and treatment algorithm according to pathophysiology. METHODS: We retrospectively reviewed a total of 205 Northeast Asian patients' clinical data who underwent an operation for prominent ear deformity. Follow-up assessments were conducted 3, 6, and 12 months after surgery. Prominent ear deformities were classified by diagnostic checkpoints. Class I (simple prominent ear) includes prominent ear that developed with the absence of the antihelix without conchal hypertrophy. Class II (mixed-type prominent ear) is defined as having not only a flat antihelix, but also conchal excess. Class III (conchal-type prominent ear) has an enlarged conchal bowl with a well-developed antihelix. RESULTS: Among the three types of prominent ear, class I was most frequent (162 patients, 81.6%). Class II was observed in 28 patients (13.6%) and class III in 10 patients (4.8%). We used the scaphomastoid suture method for correction of antihelical effacement, the anterior approach conchal resection for correction of conchal hypertrophy, and Bauer's squid incision for lobule prominence. The complication rate was 9.2% including early hematoma, hypersensitivity, and suture extrusion. Unfavorable results occurred in 4% including partial recurrence, overcorrection, and undercorrection. CONCLUSIONS: To reduce unfavorable results and avoid recurrence, we propose the use of a classification and treatment algorithm in preoperative evaluation of prominent ear. 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 .

Using State Birth Defects Registries to Evaluate Regional Critical Congenital Heart Disease Newborn Screening.

BACKGROUND: Most states have now passed legislation mandating pulse oximetry for all newborns, or have promulgated regulations or guidelines to encourage use of routine pulse oximetry. State-based birth defects registries may be well positioned to track and evaluate critical congenital heart disease (CCHD) screening coverage and outcomes. This purpose of this study was to determine: (1) the proportion of cases detected by screening, (2) health services use by children with CCHDs during the first year of life, and (3) mortality outcomes. METHODS: Records of children born in 2012 to 2013 with any of seven CCHD lesions were identified in New England birth defects databases. Information was abstracted from each child's medical record. Descriptive statistics were used to report results. RESULTS: From nearly 160,000 live births, 208 CCHD diagnoses were noted in the records of 157 children. Screening was noted in 67% of records of confirmed cases of CCHDs. Data completeness varied by state; for example, information was available regarding prenatal diagnosis in 91% of records and age at first surgery in 85% among states with active surveillance compared with 35% and 75%, respectively, with passive surveillance. Documentation of screening results in medical records was inconsistent. The one year survival was 85% (77/91). CONCLUSION: Birth defects surveillance systems can provide information on outcomes for infants with CCHDs. However, information varies by surveillance method and by hospital practices. Engaging hospitals in standardizing recording procedures and enhancing training and quality control could increase the value of birth defects registries records in assessing outcomes for children identified through CCHD screening. Birth Defects Research 109:1414-1422, 2017.© 2017 Wiley Periodicals, Inc.

[Pediatric laryngeal clefts: an experience in the diagnosis and management of 13 cases].

Objective: To investigate the diagnosis and management of laryngeal cleft. Method: The clinical data of 13 cases of laryngeal cleft treated between 2007 and 2015 was analyzed retrospectively. Results: The children with laryngeal cleft were classified according to the classification of Benjamin-Inglis, as type Ⅰ(11 cases), typeⅡ(1 case) and type Ⅲ(1 case). All patients were confirmed by microlaryngobronchoscopy under general anaesthetic. Eleven typeⅠ and 1 type Ⅱ clefts were managed conservatively, with which all type Ⅰ patients were successfully managed, while the type Ⅱ patient was resolved by surgical endoscopy. The type Ⅲ patient was treated by open repair but the results was poor. Conclusions: Patients who suffered with choking on feeding or recurrent aspiration pneumonia, especially coexisted with other congenital malformation, needed detailed evaluation for laryngeal cleft, although which was a rare congenital abnormality. Electronic laryngoscope could be the first step to screen the cleft, while microlaryngobronchoscopy is the gold standard for diagnosis of laryngeal cleft. The majority of children with lower type clefts can be managed conservatively. Surgical endoscopy has high success rate when strictly following the indication. Type Ⅲ and Ⅳ clefts have high mortality for usually combining with severe complications and abnormalities.

New Classification System for Tear Trough Deformity.

BACKGROUND: Tear trough deformities (TTD) refer to a set of conditions leading to different shapes in the junction between the lower eyelid and the cheek. Tear trough deformity is a major aesthetic concern for a lot of individuals seeking periorbital rejuvenation and is one of the most discussed landmarks in facial aesthetic surgery. OBJECTIVE: To describe a new morphologically related classification system, providing an objective means to evaluating the deformity. METHODS: The article proposes a new classification system exhibiting 5 different forms of a TTD based on the author's clinical experience and review of medical literature. CONCLUSION: Five forms of a TTD include a "hill" due to the superficial infraorbital fat pad herniation; a "valley" caused by fat reduction and skin changes; a "hill-valley" resulting from the weakening of the orbital portion of the orbicularis oculi muscle and its retaining ligaments, followed by fat reduction and skin changes; a "hill-valley-hill-valley" formed by a series of changes in portions of the orbicularis oculi muscle and its retaining ligaments; and a "mixed" form depicting a range of any of the 4 deformities. Classification of TTD is of great value to aid the treating physician in choosing the appropriate treating options.

Classification of Newborn Ear Malformations and their Treatment with the EarWell Infant Ear Correction System.

BACKGROUND: A single practice's treatment protocol and outcomes following molding therapy on newborn ear deformations and malformations with the EarWell Infant Ear Correction System were reviewed. A classification system for grading the severity of constricted ear malformations was created on the basis of anatomical findings. METHODS: A retrospective chart/photograph review of a consecutive series of infants treated with the EarWell System from 2011 to 2014 was undertaken. The infants were placed in either deformation or malformation groups. Three classes of malformation were identified. Data regarding treatment induction, duration of treatment, and quality of outcome were collected for all study patients. RESULTS: One hundred seventy-five infant ear malformations and 303 infant ear deformities were treated with the EarWell System. The average age at initiation of treatment was 12 days; the mean duration of treatment was 37 days. An average of six office visits was required. Treated malformations included constricted ears [172 ears (98 percent)] and cryptotia [three ears (2 percent)]. Cup ear (34 ears) was considered a constricted malformation, in contrast to the prominent ear deformity. Constricted ears were assigned to one of three classes, with each subsequent class indicating increasing severity: class I, 77 ears (45 percent); class II, 81 ears (47 percent); and class III, 14 ears (8 percent). Molding therapy with the EarWell System reduced the severity by an average of 1.2 points (p < 0.01). Complications included minor superficial excoriations and abrasions. CONCLUSION: The EarWell System was shown to be effective in eliminating or reducing the need for surgery in all but the most severe malformations. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

[The treatment efficiency of a new ear moding device in the infants with congenital ear abnormalities].

Objective:To observe the nonsurgical treatment effciency of a new ear moding device on congenital auricle deformities in order to promote clinical application. Method:Twenty-nine patients (38 ears) from Beijing Tongren Hospital Outpatient received ear molding treatment using the EarWell Infant Ear Correction System. We keep regular follow-up and close observation during the moding period. The treatment effciency was judged by the otologist, plastic surgeons and parents based on the preprocedure and postprocedure photographs and divided into 3 grades: excellent, good and poor. Result:Twenty-nine patients (38 ears) including prominent ear, 2 ears; cup ear,7 ears; lidding/lop ear deformities, 4 ears; Stahl's ear, 4 ears; helical rim abnormalities, 4 ears; conchal crus ear, 3 ears, mixed ear deformities 4 ears; cryptotia, 5 ears; ear malformation, 5 ears, 2 patients (2 ears) stop moding after 3 days treatment due to the low compliance of the infants, the remaining 36 ears received ear molding all have improved. The success rate of the EarWell Infant Ear Correction System is more than 94% (good to excellent). Conclusion:EarWell Infant Ear Correction System have a significant moding effect and can achieve satisfactory results in early time. EarWell system has a high success rate in the treatment of neonatal auricle deformations and mild auricle malformations, depending on the severity of the deformations and the initiation of treatment time. The sooner the noninvasive moding begins (especially within one week after birth), the better effect and the shorter treatment time the patients will achieve.

Modified Best-Practice Algorithm to Reduce the Number of Postoperative Videofluoroscopic Swallow Studies in Patients With Type 1 Laryngeal Cleft Repair.

IMPORTANCE: There is no consensus as to the timing of videofluoroscopic swallow studies (VFSSs) in determining resolving aspiration after laryngeal cleft repair. There is a growing literature on the effect of radiation exposure in children. OBJECTIVE: To modify a previously published best-practice algorithm based on a literature review and our clinical experience to maintain the quality of care provided after successful type 1 laryngeal cleft repair, while reducing the total number of postoperative VFSSs by 10% or greater. DESIGN, SETTING, AND PARTICIPANTS: The previously published algorithm was modified by a multidisciplinary group at a tertiary care academic medical center (Massachusetts Eye and Ear) and was prospectively applied to 31 children who underwent type 1 laryngeal cleft repair from January 1, 2013, to February 28, 2015. MAIN OUTCOMES AND MEASURES: The number of VFSSs obtained in the first 7 months after surgery was compared with the peer-reviewed literature and with a retrospective cohort of 27 patients who underwent type 1 laryngeal cleft repair from January 1, 2008, to December 31, 2012. RESULTS: The study cohort comprised 31 patients. Their ages ranged from 10 to 48 months, with a mean (SD) age of 23.94 (9.93) months, and 19% (6 of 31) were female. The mean (SD) number of postoperative VFSSs per patient before and after implementation of the algorithm was 1.22 (0.42) and 1.03 (0.55), respectively. The use of the algorithm reduced the number of VFSSs by 0.19 (95% CI, -0.07 to 0.45). This reduction in radiation exposure is equivalent to 1.47 chest radiographs per child per course of care. Surgical success was 87% (27 of 31) compared with our group's previously published success rate of 78% (21 of 27) (absolute difference, 0.09; 95% CI, -0.17 to 0.34). CONCLUSIONS AND RELEVANCE: This modified algorithm to help guide decisions on when and how often to obtain VFSSs after type 1 laryngeal cleft repair can limit patients' radiation exposure, while maintaining high surgical success rates.