Search

Recent evidence shows a shift in neonatal mortality causes, with an increasing proportion due to birth defects. This study aimed to determine the prevalence and treatment outcomes of congenital anomalies (CAs) at a tertiary referral center in Northern India. This retrospective observational study was conducted over 7 years (May 2014-December 2021) and included all inborn and outborn neonates admitted with a diagnosis of CA as per ICD-10 classification in a level 3 NICU in North India. The prevalence of CAs was 8.9% (332 out of 3734 neonates). The most commonly affected systems were cardiovascular (33.4%), gastrointestinal (19.8%), and genitourinary (19.8%). While 57.5% of these defects could potentially be addressed through pediatric and cardiovascular surgery, only a small proportion of eligible neonates received timely surgical intervention due to delayed referrals and financial constraints. The mortality rate was 16.8%. This study highlights the significant burden of CAs in Northern India, emphasizing the need for enhanced capacity building, better facilities, and increased awareness for timely referrals. The findings underscore the importance of multidisciplinary collaborations and upgraded healthcare services to inspire further research and preventive strategies to mitigate birth defects. Given the context of a low- and middle-income country, this study's insights into the prevalence, challenges, and outcomes of CAs are particularly relevant, highlighting the necessity of accessible and affordable healthcare solutions in such settings., (© The Author(s) [2024]. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Delivery room resuscitation of infants with surgical conditions can be complex and depends on an experienced and cohesive multidisciplinary team whose performance is more important than that of any individual team member. Existing resuscitation algorithms were not developed for infants with congenital anomalies, and delivery room resuscitation is largely dictated by expert opinion extrapolating physiologic expectations from infants without anomalies. As prenatal diagnosis rates improve, there is an increased ability to plan for the unique delivery room needs of infants with surgical conditions. In this review, we share expert opinion, including our center's delivery room management for neonatal noncardiac surgical conditions, and highlight knowledge gaps and the need for further studies and evidence-based practice to be incorporated into the delivery room care of infants with surgical conditions. Future research in this area is essential to move from an expert-based approach to a data-driven approach to improve and individualize delivery room resuscitation of infants with surgical conditions., (Copyright © 2024 by the American Academy of Pediatrics.)

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian aplasia, is a congenital condition characterized by uterine and upper vaginal aplasia. It affects females with a normal female karyotype and typical secondary sex characteristics. The aim of this case report was to highlight the multidisciplinary management approach for MRKH syndrome, focusing on tailored interventions to address physical and psychological challenges and improve reproductive prospects. A 26-year-old married female presented to Acharya Vinoba Bhave Rural Hospital (AVBRH), Sawangi, Wardha, India, in January 2023 with primary amenorrhea. Physical examination revealed a blind vagina and a hypoplastic uterus, indicative of MRKH syndrome. Further evaluation, including pelvic magnetic resonance imaging (MRI), confirmed Müllerian duct abnormalities and bilateral ovarian anomalies. The absence of a functional vagina significantly impacted the patient's quality of life, leading to difficulties with sexual intercourse and emotional distress related to infertility. A collaborative approach involving a gynecologist and a psychiatrist at AVBRH was initiated to address these challenges. The patient underwent vaginoplasty to create a neovagina, enhancing the sexual function and intimate relationship with the spouse. However, due to the hypoplastic uterus, achieving motherhood through traditional means was not possible. Therefore, assisted reproductive techniques, in particular surrogacy, were explored. Normal, functional ovaries were harvested from the patient for use in surrogacy procedures. This comprehensive management strategy exemplifies the challenges associated with MRKH syndrome and underscores the importance of tailored interventions and long-term follow-up. The case highlights the significance of collaborative care in improving the quality of life and reproductive prospects for individuals with MRKH syndrome., Competing Interests: All the authors declare that there are no conflicts of interest., (© 2024 The Author(s).)

Objectives: To report the sexual functional outcomes of vaginal dilation therapy in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients. Methods: From March 2020 to February 2023, 97 MRKH syndrome patients performed vaginal dilation therapy with guidance from Peking Union Medical College Hospital, and 45 of them engaged in penetrative intercourse and were included in this prospective cohort study. The Chinese version of female sexual function index (FSFI) was used to assess sexual function. Functional success was defined as FSFI>23.45. Forty age-matched healthy women were selected as controls. Kaplan-Meier survival analysis was used to calculate the median time to success. Pearson correlation analysis was used to explore the relationship between neovagina length and sexual function. Complications were collected using follow-up questionnaires. Results: The functional success rate of vaginal dilation therapy was 89% (40/45) with a median time to success of 4.3 months (95% CI : 3.0-6.1 months). Compared to controls, MRKH syndrome patients had significantly lower scores in the orgasm domain (4.72±1.01 vs 4.09±1.20; P =0.013) and pain domain (5.03±0.96 vs 4.26±0.83; P <0.001). However, there were no significant differences in the FSFI total score (26.77±2.70 vs 26.70±2.33; P =0.912), arousal domain (4.43±0.77 vs 4.56±0.63; P =0.422) and satisfaction domain (4.88±0.98 vs 4.65±0.86; P =0.269) between MRKH syndrome patients and controls. MRKH syndrome patients had significantly higher scores in the desire domain (3.33±0.85 vs 3.95±0.73; P <0.001) and lubrication domain (4.37±0.56 vs 5.20±0.67; P <0.001). The prevalence of sexual dysfunction in MRKH patients was non-inferior to controls: low desire [3% (1/40) vs 23% (9/40); P =0.007], arousal disorder [3% (1/40) vs 3% (1/40); P >0.999], lubrication disorder [5% (2/40) vs 25% (10/40); P =0.012], orgasm disorder [40% (16/40) vs 20% (8/40); P =0.051], sexual pain [30% (12/40) vs 15% (6/40); P =0.108]. Conclusions: MRKH syndrome patients undergoing non-invasive vaginal dilation therapy could achieve satisfactory sexual life. Given its high functional success rate and slight complication, vaginal dilation therapy should be recommended as the first-line option, reducing the need for unnecessary surgeries.

Aim: The aim of this paper is to present the evidence on the effectiveness of non-surgical interventions to improve health and well-being in women living with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome., Design: Systematic review guided by Preferred Reporting Items for Systematic Reviews checklist., Data Sources: The search was conducted between June and September 2022 across the following databases: CINAHL, EMBASE, Medline, PsycINFO and Cochrane. Trial registries (clinicaltrials. gov, World Health Organization International Clinical Trials Registry Platform (ICTRP), Cochrane Controlled Trials Register-CCTR), Google scholar, dissertations, conference proceedings and reference lists of included studies were also searched. Corresponding authors, formal and informal MRKH groups were contacted to obtain any significant studies or reviews., Review Methods: Eligible were only English-language empirical studies of any time period. The review followed narrative synthesis., Results: Twenty-three studies were identified that fit the inclusion criteria which included 1540 MRKH syndrome affected women. Four studies were on psychological interventions (n = 85) and 19 studies (vaginal dilation therapy n = 897, coital dilation n = 57) focused on non-surgical vaginal dilation as a measure to vaginal agenesis in MRKH syndrome., Conclusions: Clearly, vaginal dilation is a viable initial treatment option for women with MRKH syndrome. There is limited evidence that 'coital dilation' is an effective method of dilation for vaginal agenesis. The literature, however, supports the need for psychological intervention to improve health and well-being., Impact: Women with MRKH syndrome who require dilation can receive guidance and support from their healthcare providers, particularly sexual and reproductive health nurses, clinical nurse specialists and gynaecologists. From the point of diagnosis, clinical psychologists should be involved. As much as feasible, family and partner support can be encouraged., Patient or Public Contribution: No patient or public contribution., (© 2023 John Wiley & Sons Ltd.)

Background: Congenital anomalies are responsible for approximately 20% of all neonatal deaths worldwide. Improvements in antenatal screening and diagnosis have significantly improved the prenatal detection of birth defects; however, these improvements have not translated into the improved neonatal prognosis of babies born with congenital anomalies., Objectives: An attempt has been made to summarise the prenatal interventions, if available, the optimal route, mode and time of delivery and discuss the minimum delivery room preparations that should be made if expecting to deliver a fetus with a congenital anomaly., Methods: The recent literature related to the perinatal management of the fetus with prenatally detected common congenital anomalies was searched in English peer-reviewed journals from the PubMed database to work out an evidence-based approach for their management., Results: Fetuses with prenatally detected congenital anomalies should be delivered at a tertiary care centre with facilities for neonatal surgery and paediatric intensive care if needed. There is no indication for preterm delivery in the majority of cases. Only a few congenital malformations, like highrisk sacrococcygeal teratoma, congenital lung masses with significant fetal compromise, fetal cerebral lesions or neural tube defects with Head circumference >40 cm or the biparietal diameter is ≥12 cm, gastroschisis with extracorporeal liver, or giant omphaloceles in the fetus warrant caesarean section as the primary mode of delivery., Conclusion: The prognosis of a fetus with congenital anomalies can be significantly improved if planning for delivery, including the place and time of delivery, is done optimally. A multidisciplinary team should be available for the fetus to optimize conditions right from when it is born., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Congenital malformations of the pinna and aural atresia can result in major aesthetic and functional deficits. Knowledge about embryologic developments and established classification systems is an essential requirement when dealing with affected patients. Early detection of deficiencies and introduction of appropriate diagnostic measures is vital to initiate adequate therapies and prevent long-term disabilities. Treatment for malformations of the pinna-if requested-is mostly surgical, infrequently an epithesis is applied. As in other surgical fields, tissue engineering will likely play a crucial role in the future. Treatment of aural stenosis and atresia aims at improvement of hearing levels and prevention of secondary complications like cholesteatoma and chronic otorrhea. Auditory rehabilitation comprises a spectrum from conventional hearing aids to invasive hearing implants, the latter being favored in recent years., (© 2023. The Author(s).)

Competing Interests: None to declare.

Objective:  The aim of this study was to evaluate the use of vaginal molds, made with three-dimensional (3D) printing, for conservative treatment through vaginal dilation in patients with vaginal agenesis (VA)., Methods:  A total of 16 patients with a diagnosis of VA (Mayer-Rokitansky-Küster-Hauser syndrome, total androgen insensitivity syndrome, and cervicovaginal agenesis) from the Federal University of São Paulo were selected. Device production was performed in a 3D printer, and the polymeric filament of the lactic polyacid (PLA) was used as raw material. A personalized treatment was proposed and developed for each patient., Results:  There were 14 patients who reached a final vaginal length of 6 cm or more. The initial total vaginal length (TVL) mean (SD) was 1.81(1.05) and the final TVL mean (SD) was 6.37 (0.94); the difference, analyzed as 95% confidence interval (95% CI) was 4.56 (5.27-3.84) and the effect size (95% CI) was 4.58 (2.88-6.28)., Conclusion:  The 3D printing molds for vaginal dilation were successful in 87.5% of the patients. They did not present any major adverse effects and offered an economical, accessible, and reproducible strategy for the treatment of VA., Competing Interests: The authors have no conflict of interests to declare., (Federação Brasileira de Ginecologia e Obstetrícia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/).)

Background: There is a paucity of data on the frequency of transfusion during pediatric surgery index cases and guidelines for pretransfusion testing, defined as type and screen and crossmatch testing, prior to operation are not standardized. This study aimed to determine the incidence of perioperative blood transfusions during index neonatal operations and identify risk factors associated with perioperative blood transfusion to determine which patients benefit from pretransfusion testing., Methods: A retrospective review of infants who underwent index neonatal cases between 2013 and 2019 was performed. Data were collected for patients who underwent operations for Hirschsprung's disease, esophageal atresia/tracheoesophageal fistula (EA/TEF), biliary atresia, anorectal malformation, omphalocele, gastroschisis, duodenal atresia, congenital diaphragmatic hernia (non-ECMO) or pulmonary lobectomy. Infants under 6 months were included except in the case of lobectomy where infants up to 12 months were included., Results: Analysis was performed on 420 patients. Twenty-five (6.0%) patients received perioperative blood transfusion. Patients who received perioperative transfusion most commonly underwent EA/TEF repair. Patients who received perioperative transfusion had higher rates of structural heart disease (52.0% vs 17.7%, p<0.001), preoperative transfusion (48.0% vs 8.9%, p<0.001), and prematurity (52.0% vs 25.6%, p = 0.005). Presence of all three risk factors resulted in a 48% probability of requiring perioperative transfusion., Conclusions: Blood transfusion during the perioperative period of neonatal index operations is rare. Factors associated with increased risk of perioperative transfusion include prematurity, structural heart disease, and history of previous blood transfusion., Level of Evidence: III., Competing Interests: Declaration of Competing Interest The authors have no conflicts of interest. No grant funding was used to support this research. Institutional funding was provided by the Colorado Firefighter Endowed Chair, Children's Hospital Colorado Center for Research in Outcomes in Children's Surgery, and generous support from the Colorado Firefighter Calendar., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Background: Vaginal agenesis is an uncommon condition with an estimated incidence of 1/5000 live female births. There are surgical and non-surgical treatment options for neo-vagina creation. Vaginal dilatation has been used to treat vaginal agenesis for over 80 years, but outcome data to date have had poor definitions for 'success'. The optimal method for neo-vagina creation varies with vaginal dilator therapy being the most successful first line therapy in women with Mayer-Rokistansky-Kuster-Hauser syndrome, with little literature to guide best practice in women with more complex congenital conditions. There is a paucity of data from Australian and New Zealand paediatric and adolescent gynaecology services on management of women requiring a functional vagina, for any underlying aetiology., Aims: To determine if creation and maintenance of a functional neo-vagina for vaginal agenesis with non-surgical management (via vaginal dilators) should be the first line treatment., Materials and Methods: Retrospective observational study between January 2005 and June 2015., Results: Of the 23 women, 21 (91.3%) achieved a successful vaginal length defined as achieving vaginal length >6 cm and maximum width using the largest dilator if not sexually active, or ability to have sexual intercourse without discomfort., Conclusion: Vaginal dilator therapy remains an effective first line treatment for neo-vagina creation and maintenance and can be achieved in an outpatient setting with appropriate support., (© 2022 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.)

Introduction: The urachus is an embryologic remnant which is formed from the obliteration of the allantois. Urachal abnormalities are caused when defective obliteration of the urachus happens. They are an infrequent condition. Incidence is estimated to be between 5,000 and 8,000 live births. Its diagnosis and management remain a challenge due to the lack of an specific clinical picture and the controversy about the management., Objective: The objective of this study is to assess the clinical presentation, diagnosis, therapeutic management, and outcomes of urachal anomalies in our health area., Materials and Methods: We performed a retrospective review of all cases of urachal anomalies recorded Tenerife (southern health area), La Gomera, and El Hierro Islands during a 5 year period., Results: Twenty-three cases of urachal pathology were included. The mean age of presentation was 32 years old. 73.9% were male. 65% were diagnosed in adults. In 30.3% of the cases, it was a casual finding. Symptoms included fever, umbilical exudate, hematuria, abdominal pain, and umbilical granuloma. The main diagnostic tests were ultrasound and computed tomography scan. Treatments were selected conservative management (43.5%), selective resection, partial cystectomy, and radical cystectomy. All patients had a good evolution. However, 2 cases where benign tumors were suspected, clinically, had a final histology of cancer in the specimen., Conclusions: Due to the lack of a specific clinical picture and undefined findings in image tools, diagnosis is difficult and it may be inaccurate. Despite more data are needed, our results suggest that the systematic excision of urachal lesions could result in safer outcomes since cases where a benign lesion is clinically suspected might result in malignant tumors., (© 2021 S. Karger AG, Basel.)

Background: Vaginal agenesis, most commonly referred as Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome, is mostly diagnosed as primary amenorrhea in teenage girls; although there is plenty of literature concerning the formation of a neovagina, limited research has focused on the psychological burden of this diagnosis to the girls., Aim: To enlighten health providers into the finer aspects of sexuality through the own words and experiences of girls with MRKH under our care., Methods: Women currently undergoing vaginal dilation or who had completed vaginal dilation within the past year were recruited from February 2019 to January 2020. A gynecologist with training in Sexual Medicine conducted a semistructured interview, which was recorded and then transcribed to identify common themes among interviewees., Outcomes: The main outcome explored was the narrative experiences of women with MRKH., Results: 7 women participated, with a mean age of 19.7 (range 17-22 years). None of the girls felt stigmatized, however one reported significant distress at diagnosis, stemming from the attitude of health care professionals and exacerbated by an earlier age at disclosure. All girls accepted that VDT was successful, when it was initiated after they had felt sexual interest and arousal. Exact quantification of the vaginal length at onset, worried 4 as they felt pressurized to achieve a specific length. A few girls reported anxiety over sharing the diagnosis with an intimate partner. All of them pretended at some point to have menses. Childbearing was an important issue for most of the interviewees, but it did not concern them for the time being. All girls had supporting families. However, 5 did not want to share information about VDT with them. One girl reported that openness in discussing genital anatomy, VDT and sexuality, helped her both in completing treatment and adapting in a sexual relationship., Clinical Implications: A multidisciplinary team should aim for age-appropriate disclosure and consultation and guide women through VDT and their sexual relations., Strengths and Limitations: This is a thorough account of women's perceptions regarding VDT and sexuality in MRKH. However, our conclusions may be limited by the small number of participants., Conclusion: Gradual provision of information at disclosure and adjusted timing at VDT may reduce stress in girls with MRKH. Tsitoura A, Michala L. The Sexuality of Adolescents and Young Women With MRKH Syndrome: A Qualitative Study. J Sex Med 2021;18:2012-2019., (Copyright © 2021 International Society for Sexual Medicine. Published by Elsevier Inc. All rights reserved.)

Rapid genome sequencing impacted real-time diagnostic and therapeutic management for patients in a nonacademic community hospital. A retrospective chart review of 24 patients identified that more than 60% had a change in medical management as a result of rapid genome sequencing., (Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)

BACKGROUND The aim of this study was to assess the effectiveness of bone conduction hearing aids in children under 2 years old who have congenital microtia and atresia. MATERIAL AND METHODS This prospective study involved 42 children under 2 years old with congenital microtia and atresia who were divided into 2 groups: 21 with unilateral defect and 21 with bilateral defect. All children were provided with bone conduction hearing aids on a softband. Air and bone auditory thresholds were assessed by auditory brainstem responses (ABRs). The LittlEARS questionnaire was used to evaluate auditory development at baseline and after 6 months of hearing aids use. Behavioral observation audiometry (BOA) was used to assess auditory thresholds and compare aided and unaided hearing. RESULTS After 6 months of hearing aid use, the total score of the LittlEARS questionnaire in children with unilateral defect was 24±5.60, while children with bilateral defect achieved a result of 26.29±6.17. Hearing thresholds in both groups with bone conduction hearing aids improved significantly and approached the normal level. CONCLUSIONS Our results confirm that bone conduction hearing aids provide an effective method of auditory rehabilitation for children with conductive and mixed hearing loss caused by microtia and atresia. Using bone conduction hearing aids in such children is crucial for proper hearing, speech, and language development.

Trisomy 13 is one of the three most common aneuploidy syndromes in live-born infants. It is associated with mortality rates as high as 90% within the first year of life, in large part, due to the high prevalence of severe congenital abnormalities that increase mortality and morbidity. However, life-saving and life-prolonging medical interventions are being performed at a higher rate for these infants, resulting in increased rates of survival. Although cardiac complications have been well described in infants with trisomy 13, these patients also experience other complications such as respiratory, neurological, genitourinary, abdominal, otolaryngologic, and orthopedic complications that can impact their quality of life. The goal of this review is to present a comprehensive description of complications in children with trisomy 13 to aid in the development of monitoring and treatment guidelines for the increasing number of providers who will be caring for these patients throughout their lives. Where the evidence is available, this review presents screening recommendations to allow for more rapid detection and documentation of these complications., (© 2021 Wiley Periodicals LLC.)

Background: Genetic diseases are chronic conditions with relevant impact on the lives of patients and their families. In USA and Europe it is estimated a prevalence of 60 million affected subjects, 75% of whom are in developmental age. A significant number of newborns are admitted in the Neonatal Intensive Care Units (NICU) for reasons different from prematurity, although the prevalence of those with genetic diseases is unknown. It is, then, common for the neonatologist to start a diagnostic process on suspicion of a genetic disease or malformation syndrome, or to make and communicate these diagnoses. Many surveys showed that the degree of parental satisfaction with the methods of communication of diagnosis is low. Poor communication may have short and long-term negative effects on health and psychological and social development of the child and his family. We draw up recommendations on this issue, shared by 6 Italian Scientific Societies and 4 Parents' Associations, aimed at making the neonatologist's task easier at the difficult time of communication to parents of a genetic disease/malformation syndrome diagnosis for their child., Methods: We used the method of the consensus paper. A multidisciplinary panel of experts was first established, based on the clinical and scientific sharing of the thematic area of present recommendations. They were suggested by the Boards of the six Scientific Societies that joined the initiative: Italian Societies of Pediatrics, Neonatology, Human Genetics, Perinatal Medicine, Obstetric and Gynecological Ultrasound and Biophysical Methodologies, and Pediatric Genetic Diseases and Congenital Disabilities. To obtain a deeper and global vision of the communication process, and to reach a better clinical management of patients and their families, representatives of four Parents' Associations were also recruited: Italian Association of Down People, Cornelia de Lange National Volunteer Association, Italian Federation of Rare Diseases, and Williams Syndrome People Association. They worked from September 2019 to November 2020 to achieve a consensus on the recommendations for the communication of a new diagnosis of genetic disease., Results: The consensus of experts drafted a final document defining the recommendations, for the neonatologist and/or the pediatrician working in a fist level birthing center, on the first communication of genetic disease or malformation syndrome diagnosis. Although there is no universal communication technique to make the informative process effective, we tried to identify a few relevant strategic principles that the neonatologist/pediatrician may use in the relationship with the family. We also summarized basic principles and significant aspects relating to the modalities of interaction with families in a table, in order to create an easy tool for the neonatologist to be applied in the daily care practice. We finally obtained an intersociety document, now published on the websites of the Scientific Societies involved., Conclusions: The neonatologist/pediatrician is often the first to observe complex syndromic pictures, not always identified before birth, although today more frequently prenatally diagnosed. It is necessary for him to know the aspects of genetic diseases related to communication and bioethics, as well as the biological and clinical ones, which together outline the cornerstones of the multidisciplinary care of these patients. This consensus provide practical recommendations on how to make the first communication of a genetic disease /malformation syndrome diagnosis. The proposed goal is to make easier the informative process, and to implement the best practices in the relationship with the family. A better doctor-patient/family interaction may improve health outcomes of the child and his family, as well as reduce legal disputes with parents and the phenomenon of defensive medicine.

Congenital ear abnormalities present an aesthetic and psychosocial concern for pediatric patients and their parents. Diagnosis of external ear deformities is based on clinical examination and is facilitated by an understanding of normal ear anatomy. Ear anomalies can be categorized as malformations or deformations. Malformations are characterized by absent anatomical structures of the ear (or absence of the ear itself), as exemplified by microtia and anotia. Ear deformations are characterized by ear anatomical landmarks that are present but are distorted or abnormal, with Stahl ear, constricted ear, and prominent ear being common presentations. Ear malformations will not improve with growth of the patient and uniformly require surgical intervention to recreate an anatomically typical ear. Although a small percentage of ear deformations can self-resolve, most patients with ear deformations will require nonsurgical or surgical reconstruction to achieve a normal or more aesthetic ear. In recent decades the use of nonsurgical ear splinting or molding has been recognized as a highly effective method in correcting a variety of congenital ear deformations when treatment is initiated in the first 8 weeks of life. The urgency in initiating nonsurgical treatment of ear deformations at an early age makes prompt recognition of these ear deformations essential because surgical correction remains the only viable reconstructive option in older infants and children., (© American Academy of Pediatrics, 2021. All rights reserved.)

Retinal congenital malformations known as microphthalmia, anophthalmia, and coloboma (MAC) are associated with alterations in genes encoding epigenetic proteins that modify chromatin. We review newly discovered functions of such chromatin modifiers in retinal development and discuss the role of epigenetics in MAC in humans and animal models. Further, we highlight how advances in epigenomic technologies provide foundational and regenerative medicine-related insights into blinding disorders. Combining knowledge of epigenetics and pluripotent stem cells (PSCs) is a promising avenue because epigenetic factors cooperate with eye field transcription factors (EFTFs) to direct PSC fate - a foundation for congenital retinal disease modeling and cell therapy., Competing Interests: Declaration of Interests There are no interests to declare., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Objective: To describe 5 cases with complete urinary bladder duplication, their associated conditions, and their respective treatment. Urinary bladder duplication is an extremely rare congenital anomaly of the urinary system. So far about 70 cases have been published in the English literature, most of them as case reports and a few case series., Methods and Results: All consecutive patients with bladder duplication treated at our institution between 2000 and 2015 were included. Patient records were retrospectively analyzed, and 5 patients with urinary bladder duplication were identified (see Summary Figure). Two patients were male. All duplications were recognized by health care providers. In 1 case recognition was prenatal (MRI in utero at 22 weeks of gestation), the latest recognition was at 12 months of age. A voiding cystourethrography was performed in 4 patients to confirm the diagnosis. In 4 patients the bladder duplication could be classified according to Abrahamson with 3 complete reduplications and one complete sagittal septum. All patients suffered from associated congenital diseases, but only one patient had urinary tract infections. Surgical treatment was only performed in one patient. Median follow-up was 34 months., Discussion: Urinary bladder duplications reflect extremely seldom disorders that are almost always associated with other congenital anomalies. Treatment depends on patients' symptoms and associated conditions and hence needs to be individualized to each patient., (Copyright © 2020. Published by Elsevier Inc.)

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%; I 2 = 63%) success rate at improving symptoms, while endoscopic repair had a significantly higher percentage resolution of symptoms (70%; 95% CI, 59%-79%; I 2 = 62%, P < .001) as compared with conservative treatment (51%; 95% CI, 36%-65%; I 2 = 62%) or injection laryngoplasty (36%; 95% CI, 20%-57%; I 2 = 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.

Introduction: Cryptotia is characterized by an absence of the upper part of the temporoauricular sulcus with the superior third of the auricle buried under the temporal skin. The principle of correction of cryptotia is to achieve both a functional and aesthetic ear., Methodology: A 4-year prospective study was carried out in a single centre on infants with cryptotia. We introduce a two-staged approach for non-surgical correction of cryptotia and a treatment algorithm based on the age of the patient. In the first stage, we unbury the auricle over 2 weeks. The second stage involves 2 additional weeks of helical moulding to correct the underlying or residual deformation. In our algorithm, patients more than 6 weeks of age undergo only the first stage of cryptotia correction, whereas those less than 6 weeks of age progress to the second stage of treatment., Results: A total of 5 patients (7 ears) were treated with ages ranging from 1 day to 7 months. Two patients underwent 2-stage treatment and 3 underwent 1-stage treatment. At 1 year, all buried helices remained retracted. Four out of 7 ears treated had "Excellent" outcomes and 3 out of 7 ears had "Good" outcomes. All caregivers were extremely satisfied with the outcomes., Conclusion: This simple and efficacious two-stage technique and algorithm is effective in the correction of cryptotia, even if the treatment is initiated beyond the traditional moulding window in the first six weeks of life. Using this approach, patients with cryptotia benefit by avoiding or simplifying surgical reconstruction in the future., (Copyright © 2020. Published by Elsevier Ltd.)

Background: The true incidence of congenital anomalies in sub-Saharan Africa is unknown. Owing to complex challenges associated with congenital anomalies, many affected babies may never present to a health facility, resulting in an underestimation of disease burden., Methods: Interviews were conducted with Ugandans between September 2018 and May 2019. Responses from community members versus families of children with congenital anomalies were compared., Results: A total of 198 Ugandans were interviewed (91 family members, 80 community members). All participants (N = 198) believed that seeking surgical care would lead to poverty, 43% (n = 84) assumed fathers would abandon the child, and 26% (n = 45) thought a child with a congenital anomaly in their community had been left to die. Causes of anomalies were believed to be contraceptive methods (48%, n = 95), witchcraft (17%, n = 34), or drugs (10%, n = 19). Of family members, 25 (28%) were advised to allow the child to die. Families with affected children were more likely to have a lower income (P < .001), believe anomalies could be treated (P = .007), but thought that allowing the child to die was best for the family (32% vs 9%; P < .0001). Monthly household income <50,000 Uganda shillings ($13 United States dollars) was a significant predictor of the father leaving the family (P = .024), being advised to not pursue medical care (P = .046), and believing that God should decide the child's fate (P = .047)., Conclusion: Families face significant financial and social pressures when deciding to seek surgical care for a child with a congenital anomaly. Many children with anomalies may die and never reach a health facility to be counted, thus contributing to a hidden mortality., (Copyright © 2020 Elsevier Inc. All rights reserved.)

As we confront COVID-19, the global public health emergency of our times, new knowledge is emerging that, combined with information from prior epidemics, can provide insights on how to manage this threat in specific patient populations. Severe Acute Respiratory Syndrome (SARS) and Middle East Respiratory Syndrome (MERS), both caused by coronaviruses, caused serious respiratory illness in pregnant women that resulted in adverse perinatal outcomes. Thus far, COVID-19 appears to follow a mild course in the vast majority of pregnant women. A significant proportion of pregnant women appear to be asymptomatic carriers of SARS-CoV-2. However, there is limited information on how COVID-19 impacts the fetus and whether vertical transmission occurs. While these knowledge gaps are addressed, it is important to recognize the highly efficient transmission characteristics of SARS-C0V-2 and its potential for causing serious disease in vulnerable individuals, including health care workers. This review provides perspectives from a single center in New York City, the epicenter of the pandemic within the United States. It offers an overview of the preparations required for deliveries of newborns of mothers with COVID-19 and the management of neonates with particular emphasis on those born with complex issues., Competing Interests: Declaration of Competing Interest The authors do not have any conflicts of interest., (Copyright © 2020. Published by Elsevier Inc.)

Background: Congenital anomalies are one component of the overwhelming surgical disease burden in low- and middle-income countries (LMICs). Lymphatic malformations (LMs) are a common congenital deformity of the head and neck in which the utilization of sclerotherapy may avoid surgery and yield superior outcomes. To be useful in LMICs, sclerosing agents must be widely available, inexpensive, and effective., Methods: A retrospective review of 10 pediatric patients with macrocystic or mixed LMs who were treated with self-compounded doxycycline sclerotherapy at Rwanda's Central University Teaching Hospital of Kigali was performed. Doxycycline oral tablets were crushed by hand, mixed with normal saline at a concentration of doxycycline 10 mg/mL, and injected directly into LMs of the head and neck., Results: Ten pediatric patients underwent 21 sclerotherapy sessions with a mean of 2.1 sessions per patient (SD 1.3, range 1-5). Of the 8 patients that were seen in follow-up, all achieved at least 80% resolution, 6 of 8 achieved 100% resolution, and none required surgery. One patient developed an infection at the injection site which resolved with antibiotics., Conclusions: Self-compounded doxycycline sclerotherapy is a safe, effective, and widely available treatment option for sclerotherapy of LMs in LMICs.

Objective: To report the nonsurgical correction of congenital auricular deformities in children older than 3 months, analysis the effect and the recurrence and the influencing factors. Method: Patients with auricular deformities who came to our department from July 2017 to August 2019 were collected. EarWell correction was performed for non-invasive correction. Follow-up was performed for at least 3 months after treatment. Data was collected to analysis the effect and the recurrence and the influencing factors. Result: At the end of follow-up, 76 cases of 88 ears were collected, at the end of treatment in this group, the efficiency was 87.5%, and the recurrence rate was 19.48%, 3 months after the end of treatment. There was a statistically significant difference in the distribution of auricle deformities（ P =0.018） and the age of first treatment（ P =0.028） between children in the effective group and those in the ineffective group. Of all the auricle deformities, the treatment of cryptotia was the most effective, and the effectiveness of prominent ears was the lowest. The family history（ P =0.314）, gender（ P =0.421）, and feeding method（ P =0.557） of the effective and ineffective groups. There was no significant difference in the gestational weeks at birth（ P =0.641）, the mode of production（ P =0.849）, and birth weight（ P =0.08）. There was no significant difference in age between the relapsed group and the non-relapsed group at the age of first treatment（ P =0.833）.There was significant difference in the distribution of auricle deformities between the relapsed group and the non-relapsed group（ P =0.013）. There was no statistically significant difference between the effective group and the ineffective group at the age of first diagnosis and treatment time if we exclude cryptotia. Conclusion: For children who are treated beyond the treatment time window, the main factor affecting the treatment effect is the type of deformity. Nonsurgical correction can still be tried for older than 3 months with auricular deformities, especially for cryptotia, ear wheel deformities, and auricular cavity deformities. We do not recommend to try nonsurgical correction for children older than 3 months with prominent ears and cup ears., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

Purpose: Perineal groove is a rare congenital anomaly of the perineum, and only a few papers describing a small number of cases have been reported in the medical literature. This study aimed to evaluate the clinical characteristics and proper management of perineal groove., Methods: We performed a retrospective review of 26 pediatric patients who were diagnosed with perineal groove between January 2012 and October 2018 at our institution., Results: Perineal groove was extremely prevalent among the females: 25 of the 26 patients were girls, and only one patient was a boy. All the patients presented with an unusual lesion at the anus or perineum, but no symptoms related to this anomaly. The median age at the first visit to our clinic was 1.5 month (range, 0.3-11.4 month). Two types, complete and partial, were used to categorize the appearance of perineal groove. In a sample group, 55% (12/22) of the patients had complete perineal groove while 45% (10/22) had partial perineal groove. One patient underwent an anoplasty at another hospital following the diagnosis of an imperforate anus. One male and 13 female patients were followed beyond the age of two, and 10 patients (71%) showed a natural healing process., Conclusion: Perineal groove manifested as two types of appearance and showed excellent results with conservative treatment in our study. A natural healing process can be expected in the long-term follow-up. Perineal groove must be differentiated from other defects to avoid unnecessary surgical treatment., Levels of Evidence: Therapeutic Study, Level IV., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Vaginal dilation, currently considered as the first-line therapy for vaginal aplasia in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a safe and effective treatment that aims to create a functional neovagina. However, rigid vaginal dilators classically described in the literature usually cause physical discomfort and side effects that can lead to vaginal necrosis. Here, we present two cases of MRKH syndrome patients with vaginal agenesis whose main complaint was the inability to have sexual intercourse with their partners. Considering unavailability of acrylic dilators and previous studies reporting good responses with the use of silicone dilators in women with post-radiotherapy vaginal stenosis, the medical team and patients opted for creation of a neovagina through the daily use of silicone vaginal dilators. Patient 1 developed an 8-cm vagina after 6 months of treatment and had a satisfactory sex life with her partner. Patient 2 developed a 7-cm vagina and reported significant symptom improvement. None of the patients developed side effects after the treatment. The use of inexpensive and easily accessible silicone vaginal dilators may be an effective and noninvasive alternative with few side effects for women with vaginal agenesis, particularly in the developing countries.

Objective: To describe the reports of parents of newborns (NB) with congenital malformations hospitalized in a Neonatal Intensive Care Unit (NICU) who received bad news, in order to identify the issues related to the perception of bad news given adequately or inadequately., Methods: A cross-sectional study was conducted from January to October 2018, in which parents of newborns with congenital malformations hospitalized in NICUs were interviewed at visiting hours, according to inclusion criteria. The questionnaire had semi-structured questions related to reception of bad news. Analysis of the data was descriptive., Results: 28 mothers and two fathers were interviewed and 16 (53.3%) reported having had at least one bad news in the NICU. Of those, 10 (62.5%) considered appropriate the way in which the news was given. The justifications were: sincerity of the professional, delicacy to give the news, giving hope to the family, use of appropriate words and demonstration of caring about the newborn. Six participants (37.5%) considered inadequate the way of breaking bad news. The reasons were: unpreparedness and lack of knowledge about the child's case, use of difficult language, haste or anxiety and discouragement of family hope. Most of the news was given by a professional alone, often by a medical resident., Conclusions: The communication of bad news was considered adequate by the parents, although this perception was not unanimous. This study, therefore, indicates that it is necessary to improve the communication of bad news in this NICU. Training professionals can assist in this process.

Objective: Families' experiences of children diagnosed with birth defects vary greatly in navigating care systems and there is no comprehensive national protocol or standards for support and referral processes at birth. This study builds on the results of previous literature examining these variations in access to care. A survey was conducted among providers from across Florida to determine current practices and recommendations for providing information, medical/community referrals, discharge planning, and family-centered care in hospital settings., Methods: Fifty-four hospital health care providers across Florida completed an online survey for 11 congenital conditions through closed and open-ended responses. Survey questions were based on a literature review that focused on identifying and understanding the current practices related to providing information, support and referrals to families of infants born with birth defects. Analyses included descriptive statistics, and content analysis of the open-ended responses., Results: Survey respondents identified key personnel, practices, and challenges related to family-centered care in birth hospitals. While information and referral are often provided to the family by the physician or nurse, other health care providers and community agencies also play an important role. Processes for information and referral vary by birth defect; however common structures that support Family-centered management include written materials for family information and support, participatory discharge planning, interdisciplinary communication and coordination, and provider training/awareness., Conclusion: Through additional resources, staffing, increased communication, education, and coordination between health care providers, families and hospitals improvements can be made in the management of birth defect diagnosis and referrals. Best practices must be agreed upon, operationalized, disseminated, and evaluated so that parents consistently receive sensitive, individualized, timely information and referrals relative to their child's condition.

Background and Objective: Research has shown that it is important to initiate ear molding early for children with auricular malformations in order to achieve the best results. Currently our institute relies on the traditional primary care physician (PCP) referral system, which does not recognize the time sensitivity of the visit in patients with auricular malformations. The purpose of the current research is to implement a new screening protocol for identifying auricular malformations in the newborn population and thus expedite the clinic visit and necessary intervention., Methods: The hearing screen technicians (HSTs) were trained to identify some of the most common auricular malformations. A picture guide of 11 types of auricular malformations were given to the HSTs to use as a reference. At the time of the newborn hearing screen, the HSTs examined the pinnas of each baby. When an auricular malformation was identified, the auricular malformation team was immediately alerted and a bedside consultation with ENT occurred., Results: Comparison was made of the referral rate between pre- and post-implementation of the protocol which showed an increased rate of identification (five referrals in the 12-month period pre-implementation versus eighteen referrals in the 15-month period post-implementation)., Conclusion: We successfully implemented an auricular malformation screening protocol that was linked to newborn hearing screenings. The frequency of identification has increased with the implementation of the new screening protocol and has resulted in earlier initial ENT consultations for ear molding with the goal of improving patient satisfaction and results., Competing Interests: Declaration of competing interest None., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Introduction: Birth defects affect 2-3% of births contributing an important load to the causes of infant morbidity and mortality during the first five years of life. In Colombia, they are the second cause of infant mortality according to reports from the Departamento Administrativo Nacional de Estadística (DANE) 2011. Objective: To describe the state of health and barriers in the health care of children with congenital defects born between 2011 and 2017 in two institutions of Cali. Materials and methods: We conducted a descriptive cross-sectional observational study. We included babies born between January, 2011, and December, 2017, with at least one congenital defect who were followed up by telephone. Results: Out of 54,193 births during the period, 1,389 (2.56%) newborns had at least one congenital defect. All cases were classified according to the prognostic scale and 881 were included in the follow-up. The most frequent congenital defect was congenital cardiac malformation with 88 cases (9.99%), followed by malformation/defect of the kidney with 73 cases (8.29%), Down syndrome with 72 cases (8.17%), and testicular abnormalities with 56 cases (6.36%). Out of the 454 cases with effective follow-up, 161 (35.46%) of the caregivers stated that they had experienced at least one type of barrier during health care. Conclusion: Follow-up programs should be implemented for patients with birth defects to contribute to reducing morbidity and mortality.

Benign congenital anomalies are common in neonates. Some of these common benign congenital anomalies include preauricular pits, sacral dimples, supernumerary digits, accessory nipple, and natal teeth. It is important for health care providers who take care of newborns to recognize these benign anomalies so that unnecessary evaluations and investigations are not performed. However, some of these anomalies may be associated with clinically significant conditions. In this article, we discuss when further evaluation should be performed in babies presenting with these common benign congenital anomalies. [Pediatr Ann. 2020;49(2):e66-e70.]., (Copyright 2020, SLACK Incorporated.)

Objective: To explore correlations between post-treatment outcomes of non-surgical correction for cryptotia and treatment time and other influence factors., Methods: Forty-seven consecutive patients with 64 cryptotias were treated with the adjusted external stretching device and followed up over 12 months. A subjective evaluation scale was designed for patients to collect clinical data. Pretreatment and posttreatment evaluation were conducted by two blinded investigators. The correlations between influence factors and outcomes were explored through fractional polynomial method, multiple logistic regression, and robust linear regression methods., Results: Thirty-five patients with 49 cryptotias were included. Twenty-nine cryptotias (23 patients) have been successfully managed. Two of 17 unilateral cryptotias achieved nearly complete symmetry. The final optimal cutoff value for initiating treatment time is 6 months and for the duration of treatment per day is 5 h per day. Positive relationships between initiating treatment time >6 months and onset time, type II and onset time, initiating treatment time >6 months and effect stabilization time were observed., Conclusions: Initiating treatment time <6 months and duration of treatment per day >5 h benefit for the posttreatment outcomes. Patients wearing the device under 6 months old would have earlier onset time and effect stabilization time. It is hard to achieve complete bilateral symmetry in unilateral patients. The adjustable devices can used for the auricles with different sizes and removed and equipped conveniently., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Introduction: Bilateral renal agenesis (BRA) is a lethal diagnosis, specifically meaning that natural survival beyond birth is not expected secondary to pulmonary hypoplasia. Limited contemporary data are available about intervention and the impact of restoring amniotic fluid volume in relation to the risk for lethal pulmonary hypoplasia and other factors that might influence survival in cases of fetal BRA., Objective: We report the largest series of patients undergoing fetal intervention and postnatal care for BRA at a single comprehensive fetal center., Methods: All patients with fetal BRA were reviewed from January 2004 to November 2017. Maternal and neonatal data were collected in an institutional review board-approved retrospective review., Results: From 2014 to 2017, 20 singleton pregnancies with isolated fetal BRA were evaluated and 14 had amnioinfusion. Eight had serial infusions. Of those, there were 6 neonatal deaths. There were 2 neonatal survivors beyond 30 days; however, both died of sepsis on dialysis. One of these survivors received amnioinfusions by percutaneous approach and one via amnioport. There were no survivors to transplantation., Conclusion: Fetal intervention via amnioinfusion may promote pulmonary survivorship after birth, but postnatal survival remains poor. Future studies must place an emphasis on standardizing the postnatal approach to this patient population., (© 2020 S. Karger AG, Basel.)

Study Objective: To evaluate the treatment of patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with a combination of oocyte retrieval and surgical vaginoplasty in a single laparoscopic procedure., Design: A case series., Setting: The study was conducted at 2 tertiary referral facilities for MRKH syndrome in Milan, Italy, between July 2017 and September 2018., Patients: Eleven patients presented with MRKH and required surgical vaginoplasty while expressing a desire for future fertility., Interventions: Two experienced surgeons and an expert in assisted reproductive technology performed concomitant vaginoplasty according to the modified technique of Davydov and laparoscopic oocyte retrieval for gamete cryopreservation., Measurements and Main Results: Before the procedure, patients underwent extensive counseling and gave written consent. At the start of surgery, 10.4 ± 4.4 (mean ± standard deviation [SD]) oocytes were retrieved laparoscopically, and 8.8 ± 3.1 (SD) mean mature oocytes were cryopreserved. After oocyte retrieval, the steps of the modified Davydov technique were followed. The total operative time was 116 ± 16 minutes (mean ± SD), and no intraoperative/postoperative complications were observed., Conclusion: This is the first report of combined oocyte retrieval and vaginoplasty for patients with MRKH syndrome. The approach was found to be feasible in patients with a desire for future fertility. It is our belief that physicians treating patients with MRKH should refer patients to centers with expertise in both vaginoplasty and assisted reproductive technology., (Copyright © 2019. Published by Elsevier Inc.)

The effects of FM system fitted into the normal hearing ear (NHE) or a cartilage conduction hearing aid (CCHA) fitted into the affected ear (AE) on the speech recognition ability in noise were examined in children with unilateral congenital aural atresia (UCAA). In children with bilateral normal hearing (BNH), speech recognition score (SRS) was significantly decreased in the noisy environment of -5 dB signal-to-noise ratio (SNR), compared with those in quiet. In children with UCAA, SRS was significantly decreased in noisy environments of 0 and -5 dB SNR, compared with those in quiet. In noisy environments of 0 and -5 dB SNR, SRS in children with UCAA was significantly decreased, compared those in children with BNH. In the noisy environment of -5 dB SNR, SRS in UCAA children aided by FM system fitted into NHE was significantly better than those in unaided children in the same group. In the noisy environment of 0 dB SNR, SRS in UCAA children aided by CCHA into AE tended to be higher than those in unaided children in the same group. FM system and CCHA can be recommended as an audiological management for the improvement of speech recognition in children with UCHL in classrooms. J. Med. Invest. 67 : 134-138, February, 2020.

Purpose of Review: The implementation of palliative care at birth has led to a significant rise in the number of couples who choose to continue with pregnancies complicated by life-limiting malformations (LLMs). Prenatal counselling and appropriate antenatal/perinatal management in these cases are poorly studied and may pose significant challenges. The purpose of this review is to outline specific obstetric risks and to suggest management for mothers who choose to continue with pregnancies with the most common LLMs., Recent Findings: In pregnancies complicated by LLMs where parents opt for expectant management, clinicians should respect parental wishes, whilst openly sharing potential serious maternal medical risks specific for the identified abnormalities. The focus of both antenatal and perinatal care should be maternal wellbeing rather than foetal survival. Follow-up ultrasound examinations and maternal surveillance should be aimed at achieving timely diagnosis and effective management of obstetric complications. A clear perinatal plan, agreed with the couples by a multi-disciplinary team including a foetal medicine specialist, a neonatologist and a geneticist, is crucial to reduce maternal morbidity., Summary: This review provides a useful framework for clinicians who face the challenges of counselling and managing cases complicated by LLMs where parents opt for pregnancy continuation.

Background: One-third of infants have ear anomalies, and less than one-third self-correct. Correction of ear deformities by molding exploits the plasticity of the auricular cartilage because of circulating maternal estrogen during infancy. In this study, the authors assess the efficacy of the EarWell Infant Correction System in the correction of ear deformities and determine the factors that affect its outcome., Methods: The authors conducted a single-center prospective study over a 3-year period. Consecutive full-term infants who underwent ear molding with the EarWell system were recruited. Primary outcome was successful correction of ear anomaly. Secondary outcomes included complications and maintenance of ear shape. Factors identified included type of anomaly, age at application, duration of application, and breastfeeding., Results: Sixty-seven patients with a total of 105 ears were recruited. The anomalies were classified into deformations (66.7 percent) and malformations (33.3 percent). The median age group at presentation was 0 to 7 days (67 percent). Average duration of application was 4.1 weeks. Successful correction was achieved in 86 percent of patients. Ear deformations achieved a significantly higher rate of successful outcome (98 percent) compared with malformations (64 percent) (p < 0.001). Skin complications were common (46 percent) and attributed to our tropical climate. Patients with complications were of a higher mean age (22.1 days) compared with patients with no complications (10.6 days) (p = 0.037)., Conclusions: The EarWell system is an effective nonsurgical option for the treatment of ear anomalies. The type of anomaly was the only predictor of successful correction, whereas age at application, duration of molding, and breastfeeding were not. Complications were more common in older infants., Clinical Question/level of Evidence: Therapeutic, IV.

Background: Children with complex medical needs (CMN) are high healthcare resource utilizers, have varying underlying diagnoses, and experience repeated hospitalizations. Outcomes on neonatal intensive care (NICU) patients with CMN are unknown., Purpose: The primary aim is to describe the clinical profile, resource use, prevalence, and both in-hospital and postdischarge outcomes of neonates with CMN. The secondary aim is to assess the feasibility of sustaining the use of the neonatal complex care team (NCCT)., Methods: A retrospective cohort study was conducted after implementing a new model of care for neonates with CMN in the NICU. All neonates born between January 2013 and December 2016 and who met the criteria for CMN and were cared for by the NCCT were included., Results: One hundred forty-seven neonates with a mean (standard deviation) gestational age of 34 (5) weeks were included. The major underlying diagnoses were genetic/chromosomal abnormalities (48%), extreme prematurity (26%), neurological abnormality (12%), and congenital anomalies (11%). Interventions received included mechanical ventilation (69%), parenteral nutrition (68%), and technology dependency at discharge (91%). Mortality was 3% before discharge and 17% after discharge. Postdischarge hospital attendances included emergency department visits (44%) and inpatient admissions (58%), which involved pediatric intensive care unit admissions (26%)., Implications for Practice: Neonates with CMN have multiple comorbidities, high resource needs, significant postdischarge mortality, and rehospitalization rates. These cohorts of NICU patients can be identified early during their NICU course and serve as targets for implementing innovative care models to meet their unique needs., Implications for Research: Future studies should explore the feasibility of implementing innovative care models and their potential impact on patient outcomes and cost-effectiveness.

Vaginal dilator therapy is used to increase vaginal length for vaginal agenesis, to increase vaginal width for vaginal narrowing, and to prevent or treat stenosis after vaginal surgery. Although it is an effective therapy, many reproductive health providers have had little training on how to guide patients through this therapy. The purpose of this review is to educate providers on how to assess patient readiness and how to support patients through the process of vaginal dilation., (Copyright © 2019 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

Objectives: Auricular deformities therapy by external molding is possible. It must be undertaken early, ideally before the sixth week of life. Persistency of maternal hormones impregnation during the first six weeks of life permits to maintain the malleable cartilages. They can thus be molded into a new position. After the end of this hormonal therapy, the cartilages gradually become rigid in a specific position., Material and Methods: All infants under 6 weeks of age with isolated auricular deformities between July 2015 and July 2016 received a neonatal treatment with an external molding device called EarWell © or a custom-made one with silicone. The device was removed when the infant was 6 weeks old and had a treatment duration of at least 4 weeks. A 6 months minimum follow-up was carried out to evaluate the result., Results: From July 2015 to July 2016, 42 deformed ears were treated in 38 newborns. The average age to apply the device was 2 weeks of life with a treatment duration of 5 weeks. The immediate outcome was evaluated as excellent by the parents in 81% of cases, with an ear judged as "normal" and as excellent by the surgeon in 75% of cases. There were no major complications., Conclusions: External molding therapy for infants with ear deformities has proved to be effective in 75 to 81% of cases. It is a non-invasive treatment that avoids subsequent surgical treatment for the majority of patients., (Copyright © 2018 Elsevier Masson SAS. All rights reserved.)

Rationale: Esophageal duplication cyst (EDC) is a rare developmental aberration originated from the embryonic foregut. It may remain asymptomatic but produce local mass effect on surrounding organs if rapid enlarges. EDC may sometimes accompany with other congenital malformations. Congenital pulmonary airway malformation (CPAM) is a congenital lung malformation with an unknown chance of developing symptoms. Here we report a rare case of esophageal duplication cyst with type 2 congenital pulmonary airway malformation (CPAM)., Patient Concerns: A 16-month old boy with a prenatal diagnosis of type 2 CPAM presented progressive stridor and respiratory distress and was admitted to our hospital under the diagnosis of pneumonia. The patient responded poorly to antibiotics. A chest Xray (CXR) showed consolidation over the left upper lobe with trachea deviated to right side. A chest computed tomography (CT) revealed a cystic lesion sized 3.3 × 3.3 cm in the superior mediastinum., Diagnoses: Post-operative pathological report confirmed the diagnosis of esophageal duplication cyst., Interventions: We pre-medicated the patient with steroids and inhaled bronchodilators for airway maintenance. Then the patient received tumor resection via median sternotomy., Outcomes: The patient recovered without complication and discharged smoothly 4 days after the surgery., Lessons: EDC is a rare but potentially life-threatening disease owning to compression of large airways. Chest CT scan could detect the lesion non-invasively and should be considered in patients with persistent stridor, as well as CXR findings of the trachea deviated by a mass lesion in mediastinum, especially for those with CPAM.