Multidisciplinary Long-term Follow-up Research Articles

GORLIN-GOLTZ Syndrome: Diagnosis, Management and Follow-Up of a Little-Known Pathology

Introduction: Gorlin syndrome is a genetically predisposed inherited disorder caused by mutation of the PTCH tumour suppressor gene. Its clinical manifestations are variable, but odontogenic keratocysts, basal cell nevi and carcinomas, and costal and vertebral anomalies are the most common. Materials and Method: A retrospective study was carried out including patients operated on for maxillo-mandibular cysts in the context of basal cell nevomatosis. Results: Seven cases were collected. The mean age was 21 years, with a clear female predominance (80%). Odontogenic keratocysts were responsible for facial asymmetry in all patients. They were located twice as often on the mandible. The other major and minor criteria were variably associated. The diagnosis was based on the criteria defined by Kimonis, with confirmation by a genetic study in one patient. Treatment was surgical. Recurrences occurred in 40% of cases, with an average follow-up time of 2 years. Average follow-up was 4 years. Conclusion: Gorlin syndrome should be considered in cases of recurrent keratocysts in young subjects, associated with other signs, with long-term multidisciplinary follow-up to provide the best possible care for these patients.

Management of hemifacial microsoma with ear tags: a case report and three years follow-up

Hemifacial microsomia is a congenital disorder characterized by asymmetric facial development, affecting the ear, eye, and facial nerves. The etiology is multifactorial, involving genetic and environmental factors. Clinical manifestations can range from mild facial asymmetry to severe craniofacial deformities, often requiring multidisciplinary intervention. Physical examination for facial asymmetry and ear abnormalities. Imaging studies (CT, MRI) to assess craniofacial structures. Detailed medical history to identify any familial patterns or associated syndromes. This case underscores the importance of approach in managing Hemifacial microsomia. Multidisciplinary Long-term follow-up and staged surgical interventions are crucial for achieving optimal functional and aesthetic outcomes. Further research is needed to refine treatment protocols and improve patient quality of life.

Progress in neurosurgical treatment of neurofibromatosis type 1

To summarize the latest developments in neurosurgical treatments for neurofibromatosis type 1 (NF1) and explore therapeutic strategies to provide comprehensive treatment guidelines for clinicians. The recent domestic and international literature and clinical cases in the field of NF1 were reviewed. The main types of neurological complications associated with NF1 and their treatments were thorough summarized and the future research directions in neurosurgery was analyzed. NF1 frequently results in complex and diverse lesions in the central and peripheral nervous systems, particularly low-grade gliomas in the brain and spinal canal and paraspinal neurofibromas. Treatment decisions should be made by a multidisciplinary team. Symptomatic plexiform neurofibromas and tumors with malignant imaging evidence require neurosurgical intervention. The goals of surgery include reducing tumor size, alleviating pain, and improving appearance. Postoperative functional rehabilitation exercises, long-term multidisciplinary follow-up, and psychosocial interventions are crucial for improving the quality of life for patients. Advanced imaging guidance systems and artificial intelligence technologies can help increase tumor resection rates and reduce recurrence. Neurosurgical intervention is the primary treatment for symptomatic plexiform neurofibromas and malignant peripheral nerve sheath tumors when medical treatment is ineffective and the lesions progress rapidly. Preoperative multidisciplinary assessment, intraoperative electrophysiological monitoring, and advanced surgical assistance devices significantly enhance surgical efficacy and safety. Future research should continue to explore new surgical techniques and improve postoperative management strategies to achieve more precise and personalized treatment for NF1 patients.

Long-term health outcome and quality of life in children with multisystem inflammatory syndrome: findings from multidisciplinary follow-up at an Italian tertiary-care paediatric hospital.

The mechanisms that might explain the long-term persistence of both metabolic alterations and neuro-behavioural outcomes and their possible relationship are far from being clarified. Our study points out to the potential long-term effects of pandemics and to the importance of a multidisciplinary follow-up to detect potential negative sequelae in different areas of health, both physical and psychosocial. • Multisystem inflammatory syndrome in children (MIS-C) is a severe complication of SARS-CoV-2 infection. • Few data exist on the medium- and long-term outcomes of MIS-C, mostly focused on cardiac involvement. Emerging evidence shows neurological and psychological sequelae at mid- and long-term follow-up. • This study reveals that MIS-C may lead to long-term glycometabolic dysfunctions joined to impairment in the realm of general well-being and decline in quality of life, in a subgroup of children. • This study highlights the importance of a long-term multidisciplinary follow-up of children hospitalised with MIS-C, in order to detect the potential long-term sequelae in different areas of health, both physical and psychosocial well-being.

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A

BackgroundPseudohypoparathyroidism (PHP) is caused by loss-of-function mutations at the GNAS gene (as in the PHP type 1A; PHP1A), de novo or inherited at heterozygous state, or by epigenetic alterations at the GNAS locus (as in the PHP1B). The condition of PHP refers to a heterogeneous group of disorders that share common clinical and biological features of PTH resistance. Manifestations related to resistance to other hormones are also reported in many patients with PHP, in association with the phenotypic picture of Albright hereditary osteodystrophy characterized by short stature, round facies, subcutaneous ossifications, brachydactyly, mental retardation and, in some subtypes, obesity. The purpose of our study is to report a new mutation in the GNAS gene and to describe the significant phenotypic variability of three sisters with PHP1A bearing the same mutation.Case presentationWe describe the cases of three sisters with PHP1A bearing the same mutation but characterized by a significantly different phenotypic picture at onset and during follow-up in terms of clinical features, auxological pattern and biochemical changes. Clinical exome sequencing revealed a never before described heterozygote mutation in the GNAS gene (NM_000516.5 c.118_139 + 51del) of autosomal dominant maternal transmission in the three siblings, confirming the diagnosis of PHP1A.ConclusionsThis study reported on a novel mutation of GNAS gene and highlighted the clinical heterogeneity of PHP1A characterized by wide genotype–phenotype variability. The appropriate diagnosis has crucial implications for patient care and long-term multidisciplinary follow-up.

Maintaining Survival While Improving Quality of Life: An Advanced Practitioner-Led Pilot Feasibility Study to Reduce Radiation Dose in Children With Brain Tumors.

Oncology advanced practitioners (APs) are on the front line in treating adverse effects. Among children with brain tumors, treatments such as craniospinal irradiation (CSI) cause neurocognitive injury, endocrinopathies, and ototoxicity. High-dose CSI with concurrent chemotherapy allows high-risk embryonal tumors (non-anaplastic) good survival (70%), but significant distressing effects are commonly treated by APs in multidisciplinary long-term follow-up. The aim of this study was to test feasibility of reducing radiation dose with an AP-led protocol. An interdisciplinary team developed this pilot study with the primary outcome of fewer than two deaths in 10 patients (80% survival). Secondary outcomes were feasibility of an AP-led treatment protocol and acute/late effects of treatment. The AP held a pioneering role as principal investigator of a tumor treatment study. Exclusion criteria included age less than 3 years and anaplasia. The CSI was reduced from 36 to 24 Gy. All other treatment was standard. Survival rate exceeded the primary outcome threshold (88%); the accrual rate (80%) and follow-up neurocognitive testing rate (75%) were acceptable. Eight children ages 3 to 19 years (M = 8) with tumors of varied molecular subtyping were enrolled. The single death occurred 2.5 years from diagnosis of multiorgan failure (without evidence of tumor). The mean survival is 11 years, with two college and one graduate degrees. Acute and late effects were decreased compared with the higher-dose CSI. APs who treat cancer adverse effects can also conduct clinical prospective studies to maintain survival rates and improve quality-of life-outcomes.

Primary intradural extraosseous Ewing's sarcoma of the L3 nerve root: illustrative case.

Ewing's sarcoma is an uncommon, aggressive malignancy that typically presents as an osseous lesion, most commonly in children and adolescents. Very rarely Ewing's sarcoma can present as an intradural extramedullary mass mimicking more common tumors. A 32-year-old female had a left L3 nerve root-associated lesion identified in the setting of recent-onset radiculopathy. Contrast-enhanced magnetic resonance imaging of the lumbar spine was favored to demonstrate a schwannoma or neurofibroma. Hemilaminectomy, facetectomy, and resection of the mass led to improved radiculopathy and a tissue diagnosis of Ewing's sarcoma. Immediate referral to medical oncology facilitated expeditious initiation of adjuvant chemotherapy and radiation. The differential diagnosis for newly identified nerve root-associated tumors should remain broad, including common benign pathologies and rare malignant entities. Tissue remains the gold standard for diagnosis, as preoperative imaging suggested a nerve sheath tumor. Malignant pathologies such as Ewing's sarcoma must be considered, especially in the setting of rapidly progressive symptoms or interval growth on serial imaging. Early diagnosis allows for the timely initiation of comprehensive oncological care. Long-term multidisciplinary follow-up is necessary for the surveillance of disease progression.

Importance of prenatally diagnosed portosystemic vascular shunts in clinical outcomes

To report two cases of prenatal diagnosis of portosystemic vascular shunts and review the importance of this rare pathology in its neonatal and pediatric evolution. Case 1: pregnancy with fetal growth restriction, 2nd percentile, polyhydramnios, without fetal malformations and abnormal patterns on fetal Doppler. Abnormal blood flow through the ductus venous and abnormal venous communication in the liver were identified. Normal genetic study. Male newborn (NB) delivered at 36 weeks, because of severe fetal growth restriction, by emergency cesarean section. He evolved asymptomatic, with normal liver function, and did not continue follow-up. Case 2: pregnancy with fetal growth restriction < percentile 1. Agenesis of the ductus venous and abnormal communication between the portal vein and the left suprahepatic vein were identified with no other malformations or signs of heart failure. Severe SGA newborn was delivered by induction of labor at 35 weeks. He evolved asymptomatic. Normal complementary study. A home check-up at 2 months showed persistent vascular anomaly without systemic involvement. Even though in the cases presented there were no neonatal complications, this kind of malformations require a high index of suspicion in cases with fetal growth restriction, as well as a long-term multidisciplinary follow-up.

To Determine the Quality of Life in Indian Women After Peripartum Hysterectomy Using a Hindi Version of the SF-36 Questionnaire.

The objective of the study was to determine the quality of life in women after peripartum hysterectomy using a Hindi version of the SF-36 questionnaire. There are long-term effects on quality of life in women after peripartum hysterectomy. The effects on physical, mental, and social functioning have a prolonged recovery. No studies have been done in Indian women after peripartum hysterectomy to evaluate quality of life. Patients who underwent peripartum hysterectomy from January 2017 to May 2021 were contacted to participate in the study. To determine the quality of life post-surgery, a Hindi version of the 36-item Short-Form Health Survey (SF-36) was used for a face-to-face personal interview-based assessment. The participants were divided into two groups based on the duration between surgery and the interview. The aggregate scores for the eight components of SF-36 were calculated, and responses were analyzed. Out of the 138 post-hysterectomy women, 118 were enrolled in the study. Women who could not be contacted [14 (10.14%)] and those who died post-procedure [6 (4.35%)] were excluded. Out of the total, 43 assessed participants were within 2years of surgery, and 75 were after 2years of surgery. The group that was assessed after 2years of surgery had a significantly lower quality of life in six, out of the eight aspects of SF-36 domains. Women after peripartum hysterectomy undergo a prolonged recovery phase with effects on physical, mental, and social functioning. A multi-disciplinary long-term follow-up including physiotherapy and psychotherapy is required and that should be guided by a dedicated clinical team.

How the long-term follow-up is organized in young adult survivors of childhood cancer

SummaryThe survival after childhood cancer has improved substantially, therefore the population of childhood cancer survivors is increasing. This growing population of childhood cancer survivors, however, is at risk of a spectrum of adverse health outcomes. Unfortunately, until now, there was a lack of comprehensive follow-up recommendations.The purpuse of this article is to provide information on recently developed harmonized evidence-based guidelines and the structure to provide complex long term follow up for childhood cancer survivors. We pointed out the need for a multidisciplinary pediatric and adult specialist team, who together develop multidisciplinary long-term follow-up clinics.

Maternal-Fetal Infections (Cytomegalovirus, Toxoplasma, Syphilis): Short-Term and Long-Term Neurodevelopmental Outcomes in Children Infected and Uninfected at Birth.

(1) Background: Infections in pregnancy can lead to miscarriage, premature birth, infections in newborns, and developmental disabilities in babies. Infected infants, symptomatic at birth, can have long-term sequelae, and asymptomatic babies are also at increased risk of developing long-term sensorineural outcomes. Targeted therapy of the pregnant mother can reduce fetal and neonatal harm. (2) Aim of the study: To explore the association between symptoms and time of onset of long-term sequelae in infected children born from mothers who contracted an infection during pregnancy, by a long-term multidisciplinary follow-up. (3) Methods: For up to 2-4 years, we evaluated cognitive, motor, audiological, visual, and language outcomes in infants with symptomatic and asymptomatic congenital infections and in uninfected infants. (4) Results: 186 infants born from women who acquired Cytomegalovirus infection (n = 103), Toxoplasma infection (n = 50), and Syphilis (n = 33) during pregnancy were observed. Among them, 119 infants acquired the infection in utero. Infected infants, symptomatic at birth, obtained lower scores on the Cognitive and Motor Scale on Bayley-III compared to asymptomatic and uninfected infants (p = 0.026; p = 0.049). Many severe or moderate sequelae rose up within the first year of life. At 24 months, we observed sequelae in 24.6% (14/57) of infected children classified as asymptomatic at birth, compared to 68.6% (24/35) of symptomatic ones (χ2 = 15.56; p &lt; 0.001); (5) Conclusions: Infected babies symptomatic at birth have a worse prognosis than asymptomatic ones. Long-term sequelae may occur in infected children asymptomatic at birth after the first year of life. Multidisciplinary follow-up until 4-6 years of age should be performed in all infected children, regardless of the presence of symptoms at birth.

Telemedicine for Preventing and Treating Pressure Injury After Spinal Cord Injury: Systematic Review and Meta-analysis.

BackgroundPressure injury is a common complication after a spinal cord injury. Long-term multidisciplinary follow-up is difficult after such patients have been discharged. Telemedicine promises to provide convenient and effective support for the prevention and treatment of pressure injury, but previous attempts to demonstrate that have produced inconsistent results.ObjectiveThe aim of this study is to evaluate the effectiveness of telemedicine in preventing and treating pressure injury among community-dwelling patients with spinal cord injury, and determine which telemedicine form is more effective.MethodsThis systematic review was performed according to the PRISMA-NMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Network Meta-Analysis) standards. Ten databases were searched to identify randomized controlled trials and quasi-experimental studies related to the effectiveness of telemedicine intervention in patients with spinal cord injury. Two researchers worked independently and blindly selected studies, extracted data, and assessed the risk of bias. The results were described as relative risk (RR) and weighted mean difference and 95% CI.ResultsThe 35 studies comprised 25 randomized controlled trials and 10 quasi-experimental studies involving 3131 patients. The results showed that telemedicine can significantly (P<.05) reduce the incidence of pressure injury (RR 0.24, 95% CI 0.14-0.41; P<.05; I2=0%), promote faster healing (RR 0.73, 95% CI 0.62-0.85; P<.05; I2=0%), and yield lower scores on the pressure ulcer scale of healing (weighted mean difference=–1.98, 95% CI –3.51 to –0.46; P<.05; I2=0%). Cumulative ranking estimates showed that combining telemedicine with conventional intervention (93.5%) was the most effective approach.ConclusionsTelemedicine is a feasible way to prevent pressure injury among patients with spinal cord injuries. It can decrease the incidence and severity of pressure injury and accelerate patients’ healing without imposing economic burden. It is best used in tandem with other, more conventional interventions. Due to the limited quality and quantity of included studies, large-scale and well-designed randomized controlled trials are warranted.

Fetal and Newborn Management of Cloacal Malformations.

Cloaca is a rare, complex malformation encompassing the genitourinary and anorectal tract of the female in which these tracts fail to separate in utero, resulting in a single perineal orifice. Prenatal sonography detects a few cases with findings such as renal and urinary tract malformations, intraluminal calcifications, dilated bowel, ambiguous genitalia, a cystic pelvic mass, or identification of other associated anomalies prompting further imaging. Multi-disciplinary collaboration between neonatology, pediatric surgery, urology, and gynecology is paramount to achieving safe outcomes. Perinatal evaluation and management may include treatment of cardiopulmonary and renal anomalies, administration of prophylactic antibiotics, ensuring egress of urine and evaluation of hydronephrosis, drainage of a hydrocolpos, and creation of a colostomy for stool diversion. Additional imaging of the spinal cord and sacrum are obtained to plan possible neurosurgical intervention as well as prognostication of future bladder and bowel control. Endoscopic evaluation and cloacagram, followed by primary reconstruction, are performed by a multidisciplinary team outside of the neonatal period. Long-term multidisciplinary follow-up is essential given the increased rates of renal disease, neuropathic bladder, tethered cord syndrome, and stooling issues. Patients and families will also require support through the functional and psychosocial changes in puberty, adolescence, and young adulthood.

Secondary Surgery in Metopic Craniosynostosis: Outcomes in a Tertiary Care Craniofacial Center in Australia.

Metopic craniosynostosis is a condition in which the metopic suture is prematurely fused. Trigonocephaly and hypotelorism are the major abnormal findings associated with synostosis. Fronto-orbital advancement with cranial remodelling procedure is the widely practised method for correction of the deformities. Previously, a few studies have shown a low incidence of secondary raised intracranial pressure after the primary surgery. Thus, we reviewed our database to investigate the outcomes of metopic craniosynostosis treatment between 1999 and 2020 in Cleft and Craniofacial South Australia. One hundred twelve patients (77 males and 35 females) with metopic synostosis were operated. The mean age of primary surgery was 11.1 months (range 2.8-131.7 months). Ten patients (9%) who had secondary raised intracranial pressure underwent secondary surgery. Among those, the mean age of primary and secondary surgery were 5.4 and 57.1 months, respectively. Syndromic patients were significantly revealed to have a higher incidence of secondary raised intracranial pressure. There were three patients (2.7%) who had other secondary procedures (hardware removal and aesthetic contouring procedures). This cohort identified a higher incidence of secondary raised intracranial pressure requiring secondary surgery than previous studies. Syndromic patients were significantly related to secondary raised intracranial pressure. The patients who had raised intracranial pressure tended to have primary correction at younger age. Long-term multidisciplinary follow-up is mandatory. The demand for secondary surgery for metalwork complications or cosmetic contouring is uncommon.

Long-term neurodevelopment in children born with esophageal atresia: a systematic review.

SummaryBackgroundAlthough the survival rate of esophageal atresia (EA) has increased to over 90%, the risk of functional long-term neurodevelopmental deficits is uncertain. Studies on long-term outcomes of children with EA show conflicting results. Therefore, we provide an overview of the current knowledge on the long-term neurodevelopmental outcome of children with EA.MethodsWe performed a structured literature search in Embase, Medline Ovid, Web of Science, Cochrane CENTRAL, and Google scholar on November 8, 2020 with the keywords ‘esophageal atresia’, ‘long-term outcome’, ‘motor development’, ‘cognitive development’, and ‘neurodevelopment’.ResultsThe initial search identified 945 studies, of which 15 were included. Five of these published outcomes of multiple tests or tested at multiple ages. Regarding infants, one of six studies found impaired neurodevelopment at 1 year of age. Regarding preschoolers, two of five studies found impaired neurodevelopment; the one study assessing cognitive development found normal cognitive outcome. Both studies on motor function reported impairment. Regarding school-agers, the one study on neurodevelopmental outcome reported impairment. Cognitive impairment was found in two out of four studies, and motor function was impaired in both studies studying motor function.ConclusionsLong-term neurodevelopment of children born with EA has been assessed with various instruments, with contrasting results. Impairments were mostly found in motor function, but also in cognitive performance. Generally, the long-term outcome of these children is reason for concern. Structured, multidisciplinary long-term follow-up programs for children born with EA would allow to timely detect neurodevelopmental impairments and to intervene, if necessary.

Secondary Raised Intracranial Pressure After Cranial Vault Remodeling for Isolated Sagittal Craniosynostosis.

The management of sagittal craniosynostosis has evolved over the decades as teams seek to refine their surgical approaches to idealize head shape with the least possible morbidity. Here, the authors identify the incidence of raised intracranial pressure (ICP) and its risk factors, requiring secondary surgical intervention after cranial vault remodeling (CVR) procedure at a single tertiary referral craniofacial unit. A retrospective case-control study was performed on the patients with isolated non-syndromic sagittal craniosynostosis. All patients who underwent CVR in our unit and had a minimum of 1.5 years follow-up were included. One hundred and eighty-four patients (134 male and 50 female) who underwent primary CVR surgery for isolated sagittal craniosynostosis were included. Thirteen patients (7.07%) had clinical evidence of late raised ICP resulting in repeat CVR procedures. Higher incidence of raised ICP in patients who had primary surgery before 6 months than after or at 6 months of age (P = 0.001). There were 23.5%, 5.6%, 3.2%, and 1.9% of secondary raised ICP patients who underwent the primary surgery between 1999-2004, 2005-2010, 2011-2015 and 2016-2018, respectively (P = 0.024). The risk of secondary raised ICP was higher in patients with isolated sagittal craniosynostosis whose primary surgery occurred before the age of 6 months (two times more likely). More extensive CVR can be performed safely in sagittal synostosis with promising outcomes. The late presentation with raised ICP reinforces the importance of long-term multidisciplinary protocol-based follow-up.

Neuropsychological assessment in pediatric oncology survivorship care: utilization of services, results of evaluation, and educational and behavioral health outcomes.

Neuropsychological evaluation has become a standard component of long-term follow-up care for survivors of pediatric cancer. The purpose of the present study was to examine access to, and benefits of, neuropsychological evaluation for survivors. A retrospective chart review was conducted on cancer survivors who were referred for neuropsychological evaluation from a multidisciplinary long-term follow-up (LTFU) clinic approximately 5years following treatment cessation. Descriptive statistics were calculated, and t-tests and chi-square analyses were utilized to examine variables that may impact survivors' access to neuropsychological services. One hundred seven survivors between 6 and 26years old were referred for a neuropsychological evaluation. Referred male patients were less likely than female patients to schedule an evaluation. Consultation with a neuropsychologist in the LTFU clinic was related to more referrals but did not improve attrition rates (55%). Twenty-four percent of evaluated patients displayed severe cognitive impairment and 75% were diagnosed with a psychological disorder. Utilization of educational and behavioral health services did not significantly change following evaluation. Survivors' utilization of neuropsychological services is lower for males than females. The presence of a neuropsychologist in a multidisciplinary team clinic can improve identification of survivors that may benefit from neuropsychological evaluation. Many survivors did not receive recommended services, suggesting patients and families may need additional supports following evaluation. Future research should focus on improving survivors' access to neuropsychological services and identifying barriers to receiving recommended services.

Outcome of abusive head trauma in children less than 2 years: A single center study from a middle-income country

BackgroundAbusive head trauma (AHT) is a severe manifestation of physical abuse in young children. This study examines the outcome of AHT in children under 2 years and features associated with mortality and disability. MethodsRetrospective chart review of 72 children under 2 years diagnosed to have AHT between 2011 and 2018 at a tertiary teaching hospital in Malaysia. Demographic variables, clinical features, results of neuroimaging and their associations with outcome were explored. ResultsThe median age at presentation was 4 months, 78% were six months or younger and 68% were male. Two-thirds became unwell in the care of an alternative caregiver. Subdural hemorrhage was present in 98%. Mortality was 10%. Forty-nine survivors returned with median interval of 16 months (IQR 5–44 months) between discharge and last follow-up. At least 35% of 65 survivors were disabled with 29% having multiple disabilities. Multiple disabilities (61.1% versus 25.8%) and cognitive impairment (61.1% versus 22.6%) were significantly higher in children 3 years or older at last follow-up (p < 0.05). Signs of brainstem dysfunction at presentation, requirement for ventilation and hypoxic-ischemic injury on neuroimaging were associated with mortality. Needing ventilation, cerebral edema and neurological or visual impairment at discharge were associated with disability. ConclusionsOutcomes of death or disability in 42% make prevention of AHT a public health priority. Survivors require long-term multi-disciplinary follow-up for coordination of rehabilitation and educational support. Prevention should be directed at improving resources and services to support families in the care of young infants under 6 months.

Long-term outcomes of congenital diaphragmatic hernia: A single institution experience

Background/PurposeAs survival rates for patients with congenital diaphragmatic hernia (CDH) increase, long-term sequelae become increasingly prevalent. We present the outcomes of patients who underwent CDH repair at our institution and discuss standardization of follow-up care in our long-term multidisciplinary follow-up clinic. MethodsA retrospective review of patients followed in multidisciplinary clinic after CDH repair at our institution from January 1, 2005 to December 1, 2020. ResultsA total of 193 patients met inclusion criteria, 73 females (37.8%) and 120 males (62.2%). Left-sided defects were most common (75.7%), followed by right-sided defects (20.7%). Median age at repair was 4 days (IQR 3–6) and 59.6% of all defects required patch repair. Median length of stay was 29 days (IQR 16.8–50.0). Median length of follow up was 49 months (IQR 17.8–95.3) with 25 patients followed for more than 12 years. Long-term outcomes included gastroesophageal reflux disease (42.0%), diaphragmatic hernia recurrence (10.9%), asthma (23.6%), neurodevelopmental delay (28.6%), attention deficit hyperactivity disorder (7.3%), autism (1.6%), chest wall deformity (15.5%), scoliosis (11.4%), and inguinal hernia (6.7%). ConclusionAs survival of patients with CDH improves, long-term care must be continuously studied and fine-tuned to ensure appropriate surveillance and optimization of long-term outcomes.

Gynecological and psycho-sexual aspects of women with history of anorectal malformations

PurposeWomen with anorectal malformation (ARM) are expected to have a normal life span, therefore, gynecological and psycho-sexual issues are also important. Aim of the study was to assess these aspects in adult females with history of ARM.MethodsThirty-seven women from two ARM referral centers, aged ≥ 16, were identified. Gynecologic visit, cervicovaginal swab, pelvic ultrasound, FSH, LH, prolactin, progesterone, 17–β–estradiol, DHEAS, testosterone, TSH during follicular and luteal phases, and administration of FSFI questionnaire to screen the female sexual functioning were performed. Data were compared with six controls.ResultsNineteen patients, mean age 21.7 (16–45), participated to the study. Associated anomalies, mostly affecting limbs, vertebrae and genitalia, were present in 57.8% of cases. Mullerian anomalies were retrieved in 36.8%. Hormones’ levels were normal. Concerning sexual functioning, four women (21%) reported dyspareunia or impossible penetration, four did not answer the FSFI questionnaire due to lack of confidence about their sexuality, and three scored lower than the cut-off value for female sexual function.ConclusionThis study confirms the importance of a multidisciplinary long-term follow-up for ARM patients, including a careful study of the reproductive tract to detect and treat those conditions that could affect the fertility. Moreover, an appropriate psychological support should be provided.