Multidisciplinary Follow-up Research Articles

"I Wish There had been Resources": A Photo-Elicitation Study of Rectal Cancer Survivorship Care Needs.

Rectal cancer survivors experience unique, prolonged posttherapy symptoms. Previous data indicate that providers are not skilled at identifying the most pertinent rectal cancer survivorship issues. Consequently, survivorship care is incomplete with the majority of rectal cancer survivors reporting at least one unmet posttherapy need. This photo-elicitation study combines participant-submitted photographs and minimally structured qualitative interviews to explore one's lived experiences. Twenty rectal cancer survivors from a single tertiary canter provided photographs representative of their life after rectal cancer therapy. The iterative steps informed by inductive thematic analysis were used to analyze the transcribed interviews. Rectal cancer survivors had several recommendations to improve their survivorship care, which fell into three major themes: (1) informational needs (e.g., more details about posttherapy side effects); (2) continued multidisciplinary follow up care (e.g., dietary support); and (3) suggestions for support services (e.g., subsidized bowel altering medications and ostomy supplies). Rectal cancer survivors desired more detailed and individualized information, access to longitudinal multidisciplinary follow-up care, and resources to ease the burdens of daily life. These needs may be met through the restructuring of rectal cancer survivorship care to include disease surveillance, symptom management, and support services. As screening and therapy continues to improve, providers must continue to screen and to provide services that address the physical and psychosocial needs of rectal cancer survivors.

Post-acute phase and sequelae management of epidermal necrolysis: an international, multidisciplinary DELPHI-based consensus

BackgroundLong-term sequelae are frequent and often disabling after epidermal necrolysis (Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN)). However, consensus on the modalities of management of these sequelae is lacking.ObjectivesWe conducted an international multicentric DELPHI exercise to establish a multidisciplinary expert consensus to standardize recommendations regarding management of SJS/TEN sequelae.MethodsParticipants were sent a survey via the online tool “Survey Monkey” consisting of 54 statements organized into 8 topics: general recommendations, professionals involved, skin, oral mucosa and teeth, eyes, genital area, mental health, and allergy workup. Participants evaluated the level of appropriateness of each statement on a scale of 1 (extremely inappropriate) to 9 (extremely appropriate). Results were analyzed according to the RAND/UCLA Appropriateness Method.ResultsFifty-two healthcare professionals participated. After the first round, a consensus was obtained for 100% of 54 initially proposed statements (disagreement index < 1). Among them, 50 statements were agreed upon as ‘appropriate’; four statements were considered ‘uncertain’, and ultimately finally discarded.ConclusionsOur DELPHI-based expert consensus should help guide physicians in conducting a prolonged multidisciplinary follow-up of sequelae in SJS-TEN.

Anorectal Malformations: Ideal Surgery Timing to Reduce Incontinence and Optimize QoL.

Anorectal malformations (ARMs) are rare and involve a wide spectrum of malformations. Prenatal diagnosis is often incomplete, and the diagnostic pathway is started during the newborn period to identify the type of malformation and the correct treatment. This retrospective study included patients between 8 and 18 y.o. diagnosed with ARM, referring to Our Clinic. We proposed two questionnaires, Rintala Bowel Function Score and the Fecal Incontinence Quality of Life Scale, and we defined four groups referring to surgical timing (age in months < 3, 3-6, 6-9, >9). In total, 74 patients were recruited (mean age 13.05 ± 2.80 y.o.), and data analysis showed a significant relationship between comorbidity and surgical timing. Moreover, timing was related to outcome in terms of fecal continence (better if surgery performed before 3 months) and Quality of Life (QoL). QoL, however, is influenced by other factors (emotional and social life, psychological sphere and take of care of chronic disease). We considered rehabilitation programs, more often practiced by children who underwent surgery after 9 months, to maintain an appropriate relational life. This study highlights the importance of surgical timing as the first step of a multidisciplinary follow-up, taking care of the child in every phase of his growth, tailored to the single patient.

Structured Multidisciplinary Follow-Up After Pediatric Intensive Care: A Model for Continuous Data-Driven Health Care Innovation.

Morbidity after PICU admission for critical illness is a growing concern. Sequelae may occur in various domains of functioning and can only appropriately be determined through structured follow-up. Here, we describe the process of designing and implementing a structured multidisciplinary follow-up program for patients and their parents after PICU admission and show the first results illustrating the significance of our program. Prospective observational cohort study. Outpatient PICU follow-up clinic. Patients 0-18 years old admitted to our PICU. None. In our structured multidisciplinary follow-up program, follow-up care is provided by a pediatric intensivist and psychologist and in addition, depending on patient's critical illness and received PICU treatment(s), by a pediatric pulmonologist, cardiologist, neurologist, and/or neuropsychologist. All consultations are scheduled consecutively. Collected data are stored in a hospital-wide data warehouse and used for yearly health care evaluation sessions as well as scientific research. Challenges in organizing this follow-up program include technological challenges, providing time-efficient care, participation rate, and completeness of questionnaires. In our experience, a dedicated team is essential to tackle these challenges. Our first results, obtained in 307 of 388 referred patients (79.1%), showed the diversity of problems arising after PICU discharge, including physical, neurocognitive, and psychosocial sequelae. In addition, our data also reflected the risk of psychosocial problems among parents. Within the limited operation time of our follow-up program, the program has evolved based on our experiences and the data collected. We successfully developed and implemented a structured multidisciplinary follow-up program for patients and their parents after PICU admission. This program may help to timely initiate appropriate interventions, improve the standard of care during and after PICU admission, and facilitate scientific research on outcome and prognosis after PICU admission.

Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy: A Case Report and Literature Review

Introduction: Pseudohypoparathyroidism (PHP) is a rare disease and the first example of hormone resistance to be observed. It combines a particular morphotype, subcutaneous calcifications and bone and kidney resistance to parathyroid hormone. Other hormone resistances are possible. Case Presentation: Patient of 16 years old, had a progressive onset of right foot/ankle deformity at age of 12 years, then 6 months later contralateral ankle deformity, associated to Macrocrania, rounded forehead, enlarged nose, micrognatism, short neck, brachydactyly, deformities, Genu valgum. Workup; corrected hypocalcaemia 46.9mg/l hyperphosphaemia 66mg/l high PTH 1739pg/ml, normal renal function. Diagnosis retained: Pseudohypo-parathyroidism Type 1A or 1C associated with Albright hereditary osteodystrophy (AHO), genetic confirmation in progress. Discussion &amp; Conclusion: PHP is a rare autosomal dominant inherited disorder of variable penetrance and expression, most severe when maternally inherited. Genetic studies have identified inactivating mutations in Gs-alpha, encoded by the GNAS gene, responsible for several phenotypes. Management consists of multidisciplinary follow-up and early and specific interventions. Prognosis is variable, normal life expectancy in mild forms, significant morbidity and mortality in severe forms.

Childhood Uveitic Glaucoma: Complex Management in a Fragile Population

Uveitic glaucoma (UG) is a potentially blinding complication of intraocular inflammation and is one of the most common causes of secondary glaucoma in pediatric ophthalmology. Overall management of UG is often challenging and requires a multidisciplinary assessment and careful follow-up. The overlap with steroid-induced glaucoma (SIG) is quite common, as well as the failure of medical and surgical therapy; nevertheless, few recent papers have dealt with this topic. We review the features and the clinical approach to UG in childhood, discussing the treatments available in the pediatric population.

The psychological support for women who underwent a stillbirth during their pregnancy: the quality of midwifery care.

This review aims to investigate the role of midwifery care in perinatal death. Specifically, it aims to investigate the type and implications in the clinical practice of psychological and psychiatric support interventions for women/couples. A scoping review was conducted following the PRISMA methodology. For this purpose, the following databases were queried: PubMed, APA PsycInfo, CINAHL Plus with Full Text, and ERIC, considering only studies published in the 2002-2022 time frame. 14 studies were found to be eligible by the literature review. These researches were divided into 3 macro-topics representing the most crucial factors in influencing the quality of care: the healthcare setting, the experience and training of caregivers, and the experience of parents. The healthcare figure who experiences such a tragic event most closely is the midwife. The health and geographic context in which care is provided - understood to be low-medium-high resources - have a fundamental impact on the quality of midwifery care and caregiver satisfaction. The training was found to be incomplete, and midwives' experiences revealed how they felt unprepared. Parents' experiences indicate the need for multidisciplinary care, better communicability, and follow-up including psychological/psychiatric support for mothers who are increasingly alone in coping with bereavement. To date, there are no guidelines for psychological support for this specific event in the literature. Birth-death management should be a structured part of professional courses so that new generations of midwives can improve the quality of care for affected families. Future research should focus on how to improve communication processes, and hospital centers should adopt protocols adapted to the needs of parents, including a midwifery-led model policy based on psychological support for the mothers/couples involved, as well as increase follow-ups.

Six-month multidisciplinary follow-up in multisystem inflammatory syndrome in children: An Italian single-center experience.

A severe multisystem inflammatory syndrome in children (MIS-C) related to SARS-CoV-2 has been described after infection. A limited number of reports have analyzed the long-term complications related to pro-inflammatory status in MIS-C. We evaluated multiorgan impairment at the 6-month follow-up in MIS-C. We enrolled 33 pediatric patients consecutively hospitalized for MIS-C and monitored for almost 6 months. The inter-relationship of patient's features and disease severity at admission with long term complications was studied by multivariate analysis. Endo-metabolic derangement, cardiac injury, respiratory, renal and gastrointestinal manifestations and neurological involvement are part of the initial presentation. The most abnormalities appear to resolve within the first few weeks, without significant long term dysfunction at the 6-months follow-up, except for endocrine (non-thyroidal illness syndrome in 12.1%, insulin resistance in 21.2%) and neurological system (27.3% cognitive or psychological, behavioral, adaptive difficulties). Endocrine and heart involvement at admission represent a significant factor on the long term sequelae; however no association between severity score and long-term outcome was noted. The severity of initial clinical presentation may be associated to organ domain, however it is not related to long term sequelae. The prevalent organ restoration supports a predominant indirect immune-mediated injury triggered by a systemic inflammatory response; however a direct damage due to the viral entry could be not excluded. Eventhought our preliminary results seem to suggest that MIS-C is not a long-term risk condition for children health, a longer follow-up is mandatory to confirm this hypothesis.

Development of a telematic pharmaceutical care app (Haemoassist) for multidisciplinary follow-up of patients with congenital coagulopathies

ABSTRACT Background Guidelines for congenital coagulopathies recommend that patients record treatment administrations and bleeding episodes to help healthcare professionals monitor the disease. Research design and methods We studied over two years which patient profiles (age, treatment regimen, treatment compliance) were most likely to accept the use of an app to collect this information. We validated the quality of patient-reported data by comparing it with data obtained from hospital electronic records, pharmacy dispensing records and patient interview, collected in an access database used as a reference. Patient and professional opinions were solicited through open-ended interviews. Results The app was used by 52% of 315 patients studied. Younger patients were the most frequent users. Patients with better treatment compliance used the app more, although data collection was incomplete for most patients. The best rated by patients were the reminders of days of administration and the minimum stock alerts at home. Healthcare professionals rated the app positively. Conclusions Healthcare professionals valued the app as useful for managing treatment of congenital coagulopathies. Patients need support and time to use the app and improve the quality of the data entered. Patients who used the app rated it positively. The treatment compliance improved.

An evaluation of clinical psychology input into burns multidisciplinary follow-up clinics.

Research highlights the complex psychological needs that patients and their families can face following a burn injury, regardless of the objective severity of the injury and often beyond the timeframe of physical healing. Identification of psychological needs at different stages post-burn recovery is therefore a key role of clinical psychologists working in burn care services. This paper presents audit data collected across a two-year period in routine paediatric and adult multidisciplinary team follow-up clinics in a UK burns service. 808 clinical contacts (331 adults, 477 paediatrics) were recorded. Data gathered related to the identification of patient and/or family psychological need and the level of psychology input within clinic. For 43% of adult patients and 46% of paediatric patients seen in clinic, some degree of psychological need for the patient and/or family was identified during the consultation. A large majority of concerns related directly to the burn injury. This is consistent with previous research into the psychological impact of burns. Even for patients with no identified psychological needs, psychology presence enabled the opportunity for brief screening, preventative advice or signposting to take place during clinic. A substantial number of individuals and families presented with some level of psychological concern in relation to a burn injury when attending burns multidisciplinary team follow-up clinics. A substantial number of patients and families presented with psychological needs in relation to a burn injury when attending burns MDT follow-up clinics. The presence of Clinical Psychologists at burns MDT follow-up clinics is beneficial for the identification of burns and non-burns related psychological concerns and is a valuable use of psychological resources within a burns service. The Regional Burns Centre holds regular outpatient scar clinics to monitor recovery and healing. As well as the medical professionals, the clinics are joined by Clinical Psychologists who can assess, refer, and support individuals struggling with their burn or scarring on a mental level. Over 15 months, data was collected about patients attending the clinics and the involvement of the psychologists. 43% of adult patients and 46% of paediatric patients were identified as having some psychological need, either related to their burn or to other aspects of their life. This demonstrates the benefits of having psychology presence within scar clinics, as nearly half of the patients seen in clinic received an assessment and further support (such as signposting and referrals to psychological support). Burns staff also felt that psychology presence enhanced conversations and increased collaboration with decision making around treatment.

Persistent Xerophthalmia in a Patient with Rheumatological Disease and Priiviary Sjogren’s Syndrome: Case Report from Northern Brazil

This case study aims to contribute to the literature in order to highlight the importance of this collaboration between medical specialties. A female patient R.N.N. F, age 66, from the city of Manaus, with a previous diagnosis of Sjogren’s syndrome in regular follow-up by the Rheumatology team at the Araujo Lima outpatient clinic and referred to the Ophthalmology sector for complementary evaluation related to visual discomfort. The fundoscopy performed in the patient was within normal limits, but the symptoms experienced by her proved to be an important clinical finding, which has ratified the need for regular and multidisciplinary follow-up. This report unequivocally demonstrates that even in the face of tests considered within the expected limits for a given population, the clinical presentation can be specific and particular for each analyzed individual. Early screening exams should contemplate the patient in a holistic and individualized way whenever possible.

Effectiveness of Case Manager Led Multi-Disciplinary Team Approach on Glycemic Control Amongst T2DM Patients in Primary Care in Riyadh: A Retrospective Follow-Up Study.

Our study aims to assess the effectiveness of implementing a case manager-led Multidisciplinary Team approach in the primary healthcare setting on improving glycemic control and reducing cardiovascular risks for T2DM patients over a 6-month period. This retrospective record-based follow-up study was carried out on 3060 uncontrolled T2DM patients in primary healthcare centers in Riyadh First Health Cluster over a period of 6 months. The patient records are investigated and analyzed, including demographic characteristics and measurements of Hemoglobin A1c (HbA1c), Low-Density Lipoprotein Cholesterol (LDL-C), total cholesterol, and BP levels at enrollment and after 6 months of Multi-Disciplinary Team follow-up. The changes in the study variables and their correlations to each other are tested using Statistical Package for the Social Sciences software. At enrollment, our patients were characterized by poor glycemic control (HbAIC > 8%). Most of them have high body weight with a mean BMI of (31.2 ± 1.7), and nearly two-thirds are either hypertensive or have dyslipidemia (43.4% and 47.3% respectively). After 6 months of MDT follow-up, there is a significant improvement in glycemic control among 1971 patients (64.4%), with a reduction in the mean level of different outcomes relative to baseline HbA1c (-15%, P < .001), total cholesterol (-9.0%, P < .001), LDL-C (-11.0%, P < .001), systolic BP (-7.7%, P < .001), and diastolic BP (-10.5%, P < .001). The improved glycemic control showed a significant positive correlation with the number of MDT visits but negatively correlated with BMI and the number of comorbidities. In addition, the improvements in secondary outcomes were positively and significantly correlated with such improvements in glycemic control. Case-manager-led MDT approach significantly improves glycemic control and significantly improves control over dyslipidemia and hypertension, reducing cardiovascular risks, and unfavorable events among such diabetic patients. We highly recommend developing more MDTs, training case managers, and rigorously evaluating the MDT approach.

Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene

BackgroundOsteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease; about 90 cases have been reported to date. It is associated with mutations (heterozygous for female subjects and hemizygous for males) of the AMER1 gene, located at Xq11.2, and shows an X-linked pattern of transmission. Typical clinical manifestations include macrocephaly, characteristic facial features (frontal bossing, epicanthal folds, hypertelorism, depressed nasal bridge, orofacial cleft, prominent jaw), hearing loss and developmental delay. Males usually present a more severe phenotype than females and rarely survive. Diagnostic suspicion is based on clinical signs, radiographic findings of cranial and long bones sclerosis and metaphyseal striations, subsequent genetic testing may confirm it.Case presentationHereby, we report on a female newborn with frontal and parietal bossing, narrow bitemporal diameter, dysplastic, low-set and posteriorly rotated ears, microretrognathia, cleft palate, and rhizomelic shortening of lower limbs. Postnatally, she manifested feeding intolerance with biliary vomiting and abdominal distension. Therefore, in the suspicion of bowel obstruction, she underwent surgery, which evidenced and corrected an intestinal malrotation. Limbs X-ray and skull computed tomography investigations did not show cranial sclerosis and/or metaphyseal striations. Array-CGH analysis revealed normal findings. Then, a target next generation sequencing (NGS) analysis, including the genes involved in skeletal dysplasias, was performed and revealed a de novo heterozygous nonsense mutation of the AMER1 gene. The patient was discharged at 2 months of age and included in a multidisciplinary follow-up. Aged 9 months, she now shows developmental and growth (except for relative macrocephaly) delay. The surgical correction of cleft palate has been planned.ConclusionsOur report shows the uncommon association of intestinal malrotation in a female newborn with OS-CS. It highlights that neonatologists have to consider such a diagnosis, even in absence of cranial sclerosis and long bones striations, as these usually appear over time. Other syndromes with cranial malformations and skeletal dysplasia must be included in the differential diagnosis. The phenotypic spectrum is wide and variable in both genders. Due to variable X-inactivation, females may also show a severe and early-onset clinical picture. Multidisciplinary management and careful, early and long-term follow-up should be offered to these patients, in order to promptly identify any associated morbidities and prevent possible complications or adverse outcomes.

Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction

BackgroundCongenital syphilis (CS) depends on the placental transmission of Treponema pallidum (TP) spirochetes from an infected mother to fetus during pregnancy. It shows a wide clinical variability with cutaneous and visceral manifestations, including stillbirths, neonatal death, and asymptomatic cases. Preterm infants with CS may have more severe features of disease than the term ones, due to the combined pathogenic effect of both CS and prematurity.Case presentationWe report on a female preterm (32+6 weeks of gestation) newborn showing most of the typical CS manifestations, in addition to gastrointestinal disorders including feeding difficulties, colon stenosis and malabsorption leading to postnatal growth restriction. The mother resulted positive at the syphilis screening test of the first trimester of pregnancy, but she did not undergo any treatment. At birth, our newborn was VDRL positive (antibody titer four times higher compared to the mother), and she was treated with intravenous benzathine benzylpenicillin G for 10 days (50,000 IU/Kg three times per day). Poor tolerance to enteral nutrition (abdominal distension, increased biliary type gastric secretions) was observed. A barium enema X-Ray identified a colon stenosis within the descending tract. However, the poor general conditions due to a concurrent fungal sepsis did not allow to perform any surgical procedure, and a conservative approach with total parenteral nutrition was started. The following evolution was marked by difficulties in enteral feeding including refusal of food and vomiting, to which also contributed the neurological abnormalities related to a perinatal asphyxia, and the affective deprivation for the physical absence of the mother during hospitalization. At 5 months of age, after the introduction of an amino acid-based formula (Neocate LCP Nutricia ®), an improvement of enteral feeding was observed, with no further and significantly decreased episodes of abdominal distension and vomiting respectively, and regular stool emission. A psychological support offered to the family allowed a more stable bond between the mother and her baby, thus providing a significant additional benefit to food tolerance and growth. She was discharged at 5 months of age, and included in a multidisciplinary follow-up. She at present shows global growth delay, and normal development apart from mildly increased tone of lower limbs.ConclusionsOur report highlights less common clinical CS manifestations like gastrointestinal disorders including feeding difficulties, colon stenosis and malabsorption leading to postnatal growth delay. Moreover, it underlines how prematurity may worsen the clinical evolution of such congenital infection, due to the additional pathogenic effect of possible associated diseases and/or conditions like sepsis, hypoxic/ischemic injury, or use of drugs. CS may be observed also in high-income countries, with high rates of antenatal screening and availability of prenatal treatment. A multidisciplinary network must be guaranteed to the affected subjects, to ensure adequate care and improve the quality of life for patients and their families.

Therapeutic options for hemarthrosis in severe hemophilic patients

the coagulation factors VIII (FVIII) or IX (FIX), respectively. The primary therapeutic approach is to replace the deficient coagulation factor, which can be achieved with factors derived from human plasma or recombinants. However, despite having a therapeutic approach, most severe cases are symptomatic and may have complications, mainly in the muscles and joints. One example of such disorder is hemarthrosis. This manifestation tends to affect mainly the knee, ankle, or elbow joints in about 80% of cases. Objective: to describe the primary forms of treatment for joint bleeding in patients with severe hemophilia. Methods: This is a qualitative research of the integrative review type meant to identify productions on topics associated with hemarthrosis and severe hemophilia. The articles were searched through the databases PubMed, Scientific Electronic Library Online (Scielo) and Virtual Health Library (BVS) with the following search descriptors: “hemarthrosis andhemophilia”; “joint diseases and Hemophilia” and corresponding terms in Portuguese. The inclusion criteria were as follows:a) scientific articles b) available in full-text c) studies available in Portuguese, English, or Spanish d) randomized clinical trials e) articles published between 2016 and 2021 f) articles containing hemarthrosis caused by severe hemophilia. As exclusion criteria, texts that had no relation to the theme, did not answer the guiding question, other types of articles that did not include randomized clinical trials and/or presented duplicates were discarded. Results: In total, 42 articles were found in the selected databases; eight were duplicated, and 25 were excluded for not being randomized clinical trials or because they did not contemplate the theme. After careful reading, nine articles that met the inclusion and exclusion criteria were identified. Of the eligible studies, one reported factor replacement, and eight reported physiotherapeutic treatment. Conclusion: Factor replacement for hemophilic patients is essential and, based on the information obtained, early replacement is beneficial for the patient to avoid joint complications. Prophylaxis is indicated in severe hemophilia and its main objective is to prevent recurrent hemarthrosis, which can cause permanent functional deformities. Some physiotherapeutic interventions are indicated to prevent joint damage in severe hemophilic patients. The findings show diversity in the physical therapy modalities employed. The complete prevention of joint damage is still a challenge. A combination of treatments and a multidisciplinary team follow-up is necessary to ensure health and quality of life of patients.

Diagnostic Inexperience of Takayasu Arteritis in Pediatric Neurology: A Case Report and Mini-Review of the Literature

Takayasu arteritis (TA) is a chronic inflammatory vasculitis involving the aorta and its main branches. It usually starts with systemic inflammatory signs after ten years of age. Neurological symptoms seen depend on aneurysmatic, stenotic and thromboembolic events in the affected vessels. It is rarely seen in childhood and presentation with epileptic seizure is extremely rare in infantile age. In this case report, a 22-month-old child who was admitted with epileptic seizure and had a large infarction in the area matching the right middle cerebral artery (MCA) watershed. Symptoms and imaging findings due to infarction developed hours after epileptic seizure. First, low molecular weight heparin treatment was started. Following the development of multiple aneurysmatic-stenotic lesions in the left brachial artery and profunda branch, diagnosed as TA. It was added to oral steroid and azathioprine. Resistant seizures were controlled with levetiracetam and valproic acid in the poststroke period. Multidisciplinary follow-up is ongoing with anticoagulant, antiepileptic and immunosuppressive treatments. TA rarely occurs in the infantile period with acute neurological symptoms such as epileptic seizure and stroke. It is important to make diagnosis early in order to reduce the neurological comorbidities that may occur in the long term.

Peri- and neonatal factors influencing mortality and morbidity 2years after esophageal atresia primary repair: a single center retrospective study.

Post-operative ventilation and feeding management strategies may represent an opportunity for quality-of-care improvement to positively impact long-term outcomes after primary esophageal atresia repair. • Children operated on for esophageal atresia experience long-term digestive, respiratory, and neurologic morbidity, especially after multiple-stage esophageal repair. • Exclusive oral feeding at discharge is associated with a decreased risk of medical complications in the first years of life, in studies including all types of esophageal atresia repair.Outcomes of children after primary repair (non-long gap populations) have been less documented. • In our retrospective cohort of children with one-stage esophageal atresia repair, ventilatory support for more than 8 days and inability to achieve full oral feeding before hospital discharge in the neonatal period were independently associated with adverse digestive, respiratory, and neurologic outcomes at 2 years in survivors. • Both these factors are potentially modifiable, representing an opportunity for quality-of-care improvement to positively impact long-term outcomes.These results might also help identify children at risk of unfavorable evolution, to customize a multi-disciplinary follow-up program.

Multidisciplinary Management of Pediatric Hepatoblastoma: A 20-Year Single-Center Experience.

Hepatoblastoma is rare cancer that responds well to risk-based chemotherapy, and surgical treatment is needed to achieve complete remission and satisfactory survival rates in hepatoblastoma patients. In this study, we evaluated the clinical features and treatment outcomes of pediatric hepatoblastoma patients treated in our clinic. Eighteen patients with hepatoblastoma who were treated and followed up in our center between June 1999 and June 2020 were analyzed retrospectively. All patients were evaluated by a multidisciplinary team and managed using a risk-based protocol (SIOPEL-1 and SIOPEL-3). The patients' mean age at diagnosis was 38.33 ± 52.34 months. Sixteen patients (89%) received neoadjuvant chemotherapy, and 2 patients (11%) who underwent complete mass excision at diagnosis received adjuvant chemotherapy. After neoadjuvant therapy, the tumor was completely resected in 8 patients (45%), while liver transplantation was performed in 6 patients (34%) because complete resection of the tumor was not possible. Two patients died before surgical treatment. One patient relapsed with lung metastasis after salvage chemotherapy. She is alive without disease at 64 months. The mean follow-up time was 59.3 ± 49.8 months; 5-year overall and disease-free survival rates were 88.9% and 80.8%, respectively. The 5-year overall survival rate was 100% for both liver transplant and resected patients, whereas 5-year disease-free survival was lower in transplant patients (75% vs 100%, P < .001). Multidisciplinary follow-up is especially important for patients who may need liver transplantation. Some patients may benefit from new treatment options such as radiofrequency ablation and cyberknife treatment.

Fetal Neurology: From Prenatal Counseling to Postnatal Follow-Up.

Brain abnormalities detected in fetal life are being increasingly recognized. Child neurologists are often involved in fetal consultations, and specific fetal neurology training has been implemented in many countries. Pediatric neurologists are asked to examine the data available and to contribute to the definition of the long-term outcomes. Ventriculomegaly, posterior fossa malformations, and agenesis/dysgenesis of corpus callosum are among the most common reasons for antenatal neurological consultations. Fetuses with central nervous system and extra-CNS anomalies should ideally be managed in secondary/tertiary hospitals where obstetricians who are experts in fetal medicine and pediatric specialists are available. Obstetricians play a critical role in screening, performing detailed neurosonography, and referring to other specialists for additional investigations. Clinical geneticists are frequently asked to propose diagnostic tests and counsel complex fetal malformations whose phenotypes may differ from those during postnatal life. Advances in fetal MRI and genetic investigations can support the specialists involved in counseling. Nevertheless, data interpretation can be challenging, and it requires a high level of expertise in a multidisciplinary setting. Postnatally, child neurologists should be part of an integrated multidisciplinary follow-up, together with neonatologists and pediatricians. The neurodevelopmental outcomes should be assessed at least up to school age. Children should be evaluated with formal tests of their gross motor, cognitive, language, fine motor/visuo-perceptual skills, and their behavior. In this perspective, fetal neurology can be regarded as the beginning of a long journey which continues with a prolonged, structured follow-up, support to the families, and transition to adult life. A review of the most common conditions is presented, along with the long-term outcomes and a proposal of the neurodevelopmental follow-up of children with CNS malformation which are diagnosed in uterus.

Acondroplasia: actualización en diagnóstico, seguimiento y tratamiento

Achondroplasia requieres a multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life and favoring their independence and social inclusion. This review is justified by the multiple publications generated in recent years that have carried out a change in its management. Different guidelines and recommendations have been developed, among which the one made by the American Academy of Pediatrics in 2005 recently updated (2020), the Japanese guide (2020), the first European Consensus (2021) and the International Consensus on the diagnosis, approach multidisciplinary approach and management of individuals with achondroplasia throughout life (2021). However, and despite these recommendations, there is currently a great worldwide variability in the management of people with achondroplasia, with medical, functional and psychosocial consequences in patients and their families. Therefore, it is essential to integrate these recommendations into daily clinical practice, taking into account the particular situation of each health system.