Long-term Outcomes Of Pediatric Patients Research Articles

Outcomes after surgical and nonsurgical treatment of pediatric cerebral cavernous malformation.

Pediatric cerebral cavernous malformation (CCM) is a rarely encountered vascular entity. Comparative study on surgical excision and nonsurgical management outcomes of CCM in pediatrics is limited. To determine the demographic characteristics, hemorrhage rate, and long-term outcomes of pediatric patients with CCM. A retrospective study of pediatric patients with CCM in Chinese PLA General Hospital was conducted between January 2004 and January 2019. We compared the clinical characteristics, radiological features, and outcomes of the surgical and nonsurgical groups. Seventy-nine children were included, with 69.6% being boys, and the average age was 11.8 ± 5.5 years. The annual retrospective hemorrhagic rate was 5.7% per patient per year. Fifty-six children (70.9%) underwent surgical excision, and they were more likely to present with seizure symptoms (P = 0.011), have a higher proportion of larger lesion size (P = 0.008), less likely to have durations ≤10 days (P = 0.048), and less likely to have supratentorial deep CCM (P = 0.014) compared to children who received nonsurgical management. Total resection was achieved in most surgical cases (55, 98.2%). During the 143.9 ± 50.8 months of follow-up, 44 patients (78.6%) achieved improvement, 12 patients (17.8%) remained the same, and two (3.6%) experienced worsening. In the nonsurgical management group, 14 children (60.9%) experienced symptom improvement, eight (34.8%) remained the same, and one (4.3%) worsened, with a re-hemorrhagic risk of 8.7%. Surgical removal of pediatric CCM can eliminate the risk of hemorrhage and lead to satisfactory outcomes. For children undergoing nonsurgical management, long-term close monitoring is essential due to the life-long risk of hemorrhage.

Does Free Fibular Flap Reconstruction Affect the Quality of Life in Pediatric Patients With Various Extend of Mandible Defects?

The long-term outcomes in pediatric patients with various extents of mandible defects have not been well-documented. A retrospective case series in which this study looked at pediatric patients under the age of 13 who had mandibular reconstruction with free fibular flap and had not received another operation in the previous 6 months. The eating, swallowing, speech function, and quality of life are evaluated with EORTC QLQ-H&N35 after the mandible growth spurt has occurred. A total of 7 patients were included in this study with operation ages ranging from 6 years 1 month to 12 years 2 months. The etiology of malignant tumors was found in 2 patients and benign tumors in 5 patients. The mandibular defect distribution consists of 1 class Ic, 1 class II, 2 class IIc, 2 class III, and 1 class IVc. All patients reported no swallowing or speech difficulties. However, transient eating trouble was seen in 1 patient due to the extensive defect size that causes tooth loss. Only 1 patient received dental rehabilitation. The patients displayed an overall good quality of life with an average score of 2.857. Free fibular flap for mandibular reconstruction in children who have not reached their mandibular growth peak have a satisfying outcome, both in their function and quality of life.

Clinical characteristics and outcome of children with acute cryptorchid testicular torsion: A single-center, retrospective case series study

BackgroundCryptorchidism and testicular torsion (TT) are relatively common conditions in clinical practice; however, sparse information about cryptorchid TT is available in the current literature. MethodsWe retrospectively reviewed the clinical characteristics, treatment modalities, and long-term outcomes of pediatric patients treated for acute cryptorchid TT. ResultsWe found eight patients with unilateral acute cryptorchid TT with a prevalence of 8.9% (8/90) among all TT cases. The left testis was affected in six patients. The median age of patients at the time of the surgery was 65 months (interquartile range (IQR) 4–136 months). The median duration of symptoms was 16 h (IQR 9–25 h), while the median time to treatment was 60 min (IQR 59–63 min). The most common symptoms were pain (abdominal and inguinal) and inguinal mass with no palpable testis in the ipsilateral hemiscrotum. Preoperative color Doppler ultrasonography revealed absent or decreased testicular blood flow in the affected testes in 7/8 of patients. Various degrees of testicular torsion (median 540°, min 360°, max 1260°) were found during surgery. A necrotic testis that led to orchidectomy was found in 4/8 of patients. The median follow-up period was 42.6 months (IQR 12.5–71.2 months), revealing only one patient with testicular atrophy. The final testicular salvage rate was 35%. ConclusionsGreater awareness among caregivers and primary care physicians about acute cryptorchid TT is required to improve their timely diagnosis and treatment. A physical examination of the external genitalia and inguinal regions should be mandatory to attain a proper diagnosis and treatment without delay.

Pediatric ACL Reconstruction in Children-An Evaluation of the Transphyseal Technique's Efficacy and Safety.

Injuries of the anterior cruciate ligament (ACL) are commonly found in the general population, both among adult and pediatric patients, and their incidence has been increasing in recent years. Most of the late literature agrees that surgical reconstruction of the ACL is effective in improving long-term outcomes in pediatric patients, while others in the past have pleaded for non-surgical management. Our study aims to verify if ACL reconstruction (ACLR) using transphyseal technique in skeletally immature patients will provide angular deviations or growth restrictions. Retrospective cohort study; Level of evidence 4. We perfomed a retrospective study to verify if transphyseal ACLR in children with less than or equal to 2 years of remaining growth leads to either limb length discrepancies or axis deviations. Most patients who were treated using transphyseal technique showed significant improvements in their functional scores. There were statistically significant differences in lateral distal femoral angles (LDFA) and medial proximal tibial angles (MPTA), with no clinical impact. There was no significant limb length discrepancy (LLD) during the 2-year follow-up. Transphyseal ACLR is safe among children who have less than or equal to 2 years of remaining growth and brings no risk of axis deviations or limb length discrepancy.

The outcome in pediatric acute myeloblastic leukemia; results of the first-line treatment and contribution of hematopoietic stem cell transplantation to survival of relapsed patients.

To analyze the long-term outcome of pediatric patients with acute myeloblastic leukemia. Data from 69 patients 0-18 years of age diagnosed between December 2001 and October 2019 were analyzed in April 2023. Patients received MRC-AML10 chemotherapy (2ADE+MACE+MidAC). No maintenance chemotherapy or preventive cranial radiotherapy was administered. Twelve patients with Down syndrome and 15 patients with promyelocytic leukemia were in the cohort. Patients with Down syndrome received reduced chemotherapy (cumulative anthracycline 420 mg/m2, cytarabine 3.4 g/m2, etoposide 1400 mg/m2). ATRA was added to chemotherapy in promyelocytic leukemia. Four patients (5.8%) died in the induction (two typhlitis, one intracranial hemorrhage, and one resistant disease). The complete remission rate of 66 patients was 87.8%. There was one death due to cardiotoxicity. Total infection-related deaths were 7.2%. Seven patients with high-risk criteria and one with resistant disease underwent hematopoietic stem cell transplantation (HSCT) following the first-line treatment. All seven patients in remission were alive and disease-free. The relapse rate was 34.4% (n = 21). Four patients developing marrow relapse were disease-free in the second remission after salvage and maintenance chemotherapy. Thirteen patients (18.84%) underwent HSCT in the second remission and 8 are alive and disease-free. The mean follow-up period of patients from diagnosis was 185 ± 13 months. Thirty-four patients (49.2%) were alive and disease-free in the first remission whereas another two patients in the first remission developed secondary malignancy. In good, standard, and poor risk groups, event-free survival (EFS) rates were 68.2%, 52.9%, and 10%, and overall survival (OS) rates were 86.4%, 79.4%, and 20%, respectively. Fifteen years of EFS and OS of the whole cohort were 49.3% and 69.6%, respectively. When compared with national data and multicenter studies of developed countries, survival rates were acceptable.

Very long-term outcomes of pediatric patients treated for optic pathway gliomas: A longitudinal cohort study.

Optic pathway gliomas (OPGs) represent 5% of childhood brain tumors. Successive relapses lead to multiple treatments exposing to late complications. We included patients treated at Gustave Roussy (GR) between January 1980 and December 2015 for OPG, before 18 years old and alive at 5 years from diagnosis. Mortality and physical health conditions data were extracted from medical data files and updated, thanks to the GR long-term follow-up program and French national mortality registry for patients included in the French Childhood Cancer Survivor Study. We included 182 5-year OPG-childhood survivors in the analysis (sex ratio M/F 0.8, 35% with neurofibromatosis type 1 [NF1]). With a median follow-up of 17.2 years (range = 5-41), we registered 82 relapses, 9 second malignancies, and 15 deaths as first events after 5 years, resulting in 20-year conditional overall survival (C-OS) and late events-free survival of 79.9% (95% confidence interval [CI] = 71-86) and 43.5% (95% CI = 36-51), respectively. Radiotherapy exposure in NF1 patients (hazard ratio [HR] = 6, 95% CI = 1.7-21.2) and hypothalamic involvement (HR = 3.2, 95% CI = 1.4-7.3) were significantly associated with C-OS in multivariable analyses. Ninety-five percent of 5-year OPG survivors suffered from any health condition, especially visual acuity "<1/10" (n = 109), pituitary deficiency (n = 106), and neurocognitive impairment (n = 89). NF1 (HR 2.1) was associated with precocious puberty. With a median time post-diagnosis of 4.2 years, 33 cerebrovascular events were observed in 21 patients. Late relapses, second malignancies, and cerebrovascular diseases are severe late events resulting in premature mortality. Morbidity is high and needs after-cancer care to improve quality of life. Risk factors could be considered to better stratify long-term follow-up.

Retrospective, single-center analysis of autoimmune hepatitis in Jordanian children: clinical features, treatments, and outcomes

ObjectivesThis study describes clinical, biochemical, and histological features and long-term outcomes in pediatric patients diagnosed with autoimmune hepatitis (AIH) at King Abdullah University Hospital, Jordan.DesignRetrospective, single-center study.SettingKing Abdullah University Hospital, Jordan.ParticipantsInclusion of all pediatric patients with AIH diagnosed at our hospital from 2015 to 2023. Exclusion criteria was patients aged over 18 at time of diagnosis and those diagnosed elsewhere.Outcome measuresUnderstanding clinical, biochemical, and histological AIH features in children, evaluating treatment responses, and reporting short- and long-term complications, including mortality.ResultsSixteen pediatric cases were diagnosed, with an average age of 9.84 ± 4.13 years. Females comprised 75% of patients, and 31.3% presented with acute liver failure. Jaundice was the most common symptom, and hepatosplenomegaly was observed in 18% of cases. Most patients had elevated transaminase levels, along with positive anti-smooth muscle antibody (ASMA) and antinuclear antibodies (ANA). Common hematological abnormalities included anemia (56.3%) and thrombocytopenia (37.5%). All patients underwent liver biopsy, with interface hepatitis present in 81.3% of cases. Treatment mainly involved prednisone and azathioprine. Three patients died, one discontinued therapy, two patients were lost to follow-up, and 10 remained on treatment.ConclusionAutoimmune hepatitis affects Jordanian children, primarily female children. Jaundice is the most common presenting symptoms. Only Type I AIH occurred in our cohort. Although of good response to conventional treatment with steroids and immunosuppression, mortality reached 18.8%.

Outcomes of Portosystemic Shunts in Children with and without Liver Transplantation.

Limited data exist regarding outcome and morbidity associated with portosystemic shunts in the pediatric transplant population. Our study assesses the outcomes of pediatric patients who underwent a portosystemic shunt procedure, both with and without liver transplantation (LT). This study retrospectively reviewed the medical records of pediatric patients aged 0-19 years who underwent shunt placement between 2003 and 2017 at a tertiary care center. The analysis included cases of shunt placement with or without LT. A total of 13 pediatric patients were included in the study with median age of 8.8 years. Among the cases, 11 out of 13 (84.6%) underwent splenorenal shunt, 1 (7.7%) underwent a mesocaval shunt, and another 1 (7.7%) underwent a Modified Rex (mesoportal) shunt. Additionally, 5 out of 13 (38.5%) patients had LT, with 4 out of 5 (80.0%) receiving the transplant before shunt placement, and 1 out of 5 (20.0%) receiving it after shunt placement. Gastrointestinal bleeding resulting from portal hypertension was the indication in all cases. A total of 10 complications were reported in 5 patients; the most common complication was anemia in 3 (23.1%) patients. At the most recent follow-up visit, the shunts were functional without encephalopathy, and no deaths were reported. Shunt placement plays a crucial role in the management of patients with portal hypertension. Our study demonstrates favorable long-term outcomes in pediatric patients who underwent shunt placement. Long term shunt outcomes were similar and unremarkable in patients with LT and without LT.

Long-term outcomes of surgery for obstructive hypertrophic cardiomyopathy in a pediatric cohort

BackgroundSeptal reduction therapy via septal myectomy or a modified Konno procedure is the mainstay of therapy for drug-refractory obstructive hypertrophic cardiomyopathy (HCM), although outcomes data on septal myectomy in pediatric patients are limited. We evaluated long-term outcomes following surgery for obstructive HCM in a pediatric cohort. MethodsWe retrospectively reviewed patients age ≤18 years with obstructive HCM who underwent a left and/or right ventricular septal myectomy at our institution between 1992 and 2022. Primary endpoints were transplantation-free survival, freedom from HCM-related death, and cumulative probability of HCM-related reintervention. We further evaluated outcomes in patients with and without Noonan syndrome or other RASopathies. ResultsThirty-seven patients (median age, 7.4 years; interquartile range [IQR], 3.4-12.9 years) underwent transaortic septal myectomy. A combined modified Konno procedure was performed in 5 patients (13.9%). Sixteen patients (43.2%) had a RASopathy. A concomitant right ventricular outflow tract resection was performed in 9 patients (24.3%). There was 1 (2.7%) in-hospital death and 4 late deaths at a median follow-up of 10.5 years (IQR, 0.1-29.3). Twenty-year transplant-free survival and freedom from HCM-related death were 80.6% (95% confidence interval [CI], 64.2%-100%) and 87.1% (95% CI, 71.8%-100%), respectively. The 20-year cumulative probability of HCM-related reintervention was 34.2% (95% CI, 12.8%-57.1%). Seven patients required a septal reintervention. There was no difference in any primary endpoints between patients with and without a RASopathy. ConclusionsSurgery for obstructive HCM, including septal myectomy with and without a modified Konno procedure, may be performed with low morbidity and good long-term outcomes in pediatric patients. Recurrent outflow tract obstruction is not uncommon.

Does subtotal resection ameliorate hypothalamic morbidity in pediatric craniopharyngioma? A 30-year retrospective cohort study.

The optimal extent of resection of craniopharyngiomas to minimize the long-term risks of hypothalamic and endocrine dysfunction (obesity and panhypopituitarism) in children remains uncertain. The purpose of this study was to report long-term outcomes of pediatric patients with craniopharyngioma undergoing surgical treatment and to study rates of endocrinological and hypothalamic dysfunction in association with extent of resection. This retrospective study was performed in a cohort of children who underwent resection for craniopharyngioma at Children's of Alabama between 1990 and 2020. The primary outcome was hypothalamic dysfunction defined as a 0.5 increase in body mass index (BMI) Z-score and as a BMI > 2 SDs with or without psychiatric disturbances. Univariable analysis was performed using ANOVA, Wilcoxon rank-sum test, Pearson's chi-square test, and Fisher's exact test as appropriate. Missing data on the primary outcome were handled via multiple imputations. Relative risks were estimated using a multivariable generalized linear model with a priori variables selected using a modified Poisson regression approach with robust error variance to estimate risk ratios. The cohort includes 39 patients (24 girls and 15 boys; age range 1 month-16 years) who underwent resection of craniopharyngioma at the authors' center between 1990 and 2020. The preoperative goal of treatment was cyst decompression (CD) in 5, subtotal resection (STR) in 13, and gross-total resection (GTR) in 21 patients. The median long-term follow-up after surgery was 8.11 years (average 8.21, range 0.4-24.33 years). Univariate analysis demonstrated a statistically significant increase in hypothalamic dysfunction in patients undergoing GTR when compared to those undergoing STR or CD at 1 month postoperatively (p = 0.006) and 6-11 months postoperatively (p = 0.010), but with this difference not persisting beyond 1 year. Multivariable analysis showed patients older than 10 years at time of surgery to be the most affected and at highest risk of developing significant hypothalamic dysfunction. There was no significant difference in pituitary or neurological function between the STR/CD and GTR groups at 12-24 months or at most recent follow-up. There was no significant difference in BMI Z-scores between the STR/CD and GTR groups at 6-12 months or at most recent follow-up. Both STR and GTR of craniopharyngioma were associated with significant endocrinological sequelae after 1 year. These potential complications should be discussed with patients and their families, and postoperative protocols should include early nutritional and endocrinological interventions with endocrinologist consultation.

Pediatric Spinal Hemangioblastomas: Clinical Features and Surgical Outcomes of 39 Cases.

Spinal hemangioblastomas (HBs) are a rare pathology, especially in the pediatric population. The natural history and long-term outcomes of pediatric patients with spinal HBs remain unclear due to their scarcity. A retrospective review of the clinical data and treatment outcomes of children with spinal HBs in our institution from 2012 to 2021 was conducted. Thirty-nine pediatric patients were included, with an average age of 15.9 ± 2.9 years (range, 8-18 years), and 51.3% were female. Children were more likely to have von Hippel-Lindau (VHL) disease (p < 0.001), a family history of VHL (p < 0.001), multiple symptoms (p = 0.006), a shorter duration of symptoms (p < 0.001), and a larger lesion size (p = 0.004) and volume (p = 0.008) than their adult counterparts. The VHL-associated group of patients was more likely to present with multiple symptoms (p = 0.026), have a family history of VHL (p < 0.001), have multiple HBs (p < 0.001) and have synchronous intracranial lesions (p < 0.001) than the sporadic group. After surgery, 15 patients (38.5%) showed improved clinical outcomes, 17 patients (43.6%) remained unchanged, 4 patients (10.2%) worsened, and 3 patients (7.7%) died of tumor progression. During follow-up, there was a high rate of recurrence and repeated surgery, especially for children in the VHL-associated group. Pediatric patients with spinal HBs appear to have a higher relapse risk than their adult counterparts. Therefore, life-long follow-up of these patients is necessary, especially for VHL-associated cases. Surgery can benefit children with HBs and should be considered early to avoid irreversible neurological deterioration.

Pediatric Lyme disease: systematic assessment of post-treatment symptoms and quality of life.

Lyme disease is common among children and adolescents. Antibiotic treatment is effective, yet some patients report persistent symptoms following treatment, with or without functional impairment. This study characterized long-term outcome of pediatric patients with Lyme disease and evaluated the case definition of post-treatment Lyme disease (PTLD) syndrome. The sample included 102 children with confirmed Lyme disease diagnosed 6 months-10 years prior to enrollment (M = 2.0 years). Lyme diagnosis and treatment information was extracted from the electronic health record; parent report identified presence, duration, and impact of symptoms after treatment. Participants completed validated questionnaires assessing health-related quality of life, physical mobility, fatigue, pain, and cognitive impact. Most parents reported their child's symptoms resolved completely, although time to full resolution varied. Twenty-two parents (22%) indicated their child had at least one persistent symptom >6 months post-treatment, 13 without functional impairment (PTLD symptoms) and 9 with functional impairment (PTLD syndrome). Children with PTLD syndrome had lower parent-reported Physical Summary scores and greater likelihood of elevated fatigue. In the current study, most children with Lyme disease experienced full resolution of symptoms, including those who initially met PTLD syndrome criteria. Effective communication about recovery rates and common symptoms that may persist post-treatment is needed. The majority of pediatric patients treated for all stages of Lyme disease reported full resolution of symptoms within 6 months. 22% of pediatric patients reported one or more symptom persisting >6 months, 9% with and 13% without accompanying functional impairment. Effective communication with families about recovery rates and common symptoms that may persist post-treatment of Lyme disease is needed.

Aortic Injury From High-Speed Deceleration Against a Lap Belt in a 10-year-Old.

Traumatic aortic injuries in children and adolescents are rare, and even more rare are blunt traumatic injury to the abdominal aorta in this population. Therefore, there are few reports discussing the presentation and repair of such injuries, especially within the pediatric population. We report the successful repair of traumatic abdominal aortic transection in a 10-year-old female after a high speed MVC. She arrived in extremis with a seatbelt sign and was taken emergently for damage control laparotomy with subsequent postoperative CT findings of aortic transection/dissection at L3 with active extravasation. She immediately underwent open thrombectomy of the bilateral iliac arteries, and repair of her aortic injury with a 12 × 7mm Hemashield interposition graft extending just distal to the IMA and 1cm proximal to the aortic bifurcation. There are little data regarding long-term outcomes of pediatric patients undergoing different aortic repair techniques, and further research is needed.

Long-Term Outcome of Pediatric Patients with Anti-NMDA Receptor Encephalitis in a Single Center

Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is the most common autoimmune encephalitis in children. There is a high probability of recovery if treated promptly. We aimed to analyze the clinical features and long-term outcomes of pediatric patients with anti-NMDA receptor encephalitis. We conducted a retrospective study with definite diagnoses of anti-NMDA receptor encephalitis in 11 children treated in a tertiary referral center between March 2012 and March 2022. Clinical features, ancillary tests, treatment, and outcomes were reviewed. The median age at disease onset was 7.9 years. There were eight females (72.7%) and three males (27.3%). Three (27.3%) patients initially presented with focal and/or generalized seizures and eight (72.7%) with behavioral change. Seven patients (63.6%) revealed normal brain MRI scans. Seven (63.6%) had abnormal EEG results. Ten patients (90.1%) received intravenous immunoglobulin, corticosteroid, and/or plasmapheresis. After a median follow-up duration of 3.5 years, one patient was lost to follow-up at the acute stage, nine (90%) had an mRS ≤ 2, and only one had an mRS of 3. With the early recognition of anti-NMDA receptor encephalitis based on its clinical features and ancillary tests, we were able to treat patients promptly with first-line treatment and achieve favorable neurological outcomes.

Long-Term Outcomes of Pediatric Patients with Chordomas Treated with Proton Beam Radiation Therapy

<h3>Purpose/Objective(s)</h3> Chordomas are rare tumors that arise from embryonic remnants of the notochord and can arise anywhere along the spine or the base of skull. This condition is even more uncommon within the pediatric population, and standard of care treatment includes maximal safe resection with subsequent radiation. The use of proton radiation allows for a conformal delivery of radiation dose that potentially minimizes the exposure of sensitive nearby structures to harmful treatment effects. The purpose of this study is to evaluate the long-term survival and toxicity of pediatric patients with base of skull or cervical spine chordomas treated at this institution with proton-based radiation therapy. <h3>Materials/Methods</h3> This IRB-approved single-institution study examines a cohort of 36 pediatric patients (≤ 18 years old) with 39 lesions treated with proton radiation between 1994 and 2016. Patients were included if they were treated with definitive intent and had at least five years of time since completing radiation treatment. Median age at treatment of patients was 10.9 years old. 79% of lesions received subtotal resection, while 21% received gross total resection. 10 patients received chemotherapy. The vast majority of tumors was treated to 72-77.4Gy in 40-43 fractions. Two patients were treated to 66.6Gy in 37 fractions. <h3>Results</h3> Median follow-up time was 100 months. The 5-year overall survival for the entire cohort was 26/36 (72%), further stratified by gender to reveal 68% in the female cohort and 75% in the male cohort. Seven patients (19%) developed distant metastases and subsequent passed away from their disease. GTV over size of 25cc and poorly differentiated histology were associated with decreased overall survival and local control. Of the 30 patients with base of skull lesions, at most recent follow-up, 15 patients (50%) had ototoxicity with 12 of those cases related to adjuvant treatment. 17 patients had confirmed pituitary dysfunction or required pituitary hormone replacement at some timepoint after treatment, 7 patients had no dysfunction, 5 patients died without evidence of pituitary dysfunction, 1 patient did not have pituitary function tests available. No instances of brain or brainstem necrosis were seen. Of the 21 survivors, 20 were either in school or employed with no cognitive or learning disabilities present. <h3>Conclusion</h3> This single-institution experience shows the efficacy and safety of proton radiation in pediatric patients with chordomas. Limitations include small number of patients and retrospective nature of the study. Future directions include analysis at 10-year follow-up and further evaluation of long-term toxicity.

Clinical features and neurological outcomes in pediatric immune-mediated thrombotic thrombocytopenic purpura: A report from a large pediatric hematology center.

Thrombotic thrombocytopenic purpura (TTP) is a potentially life-threatening disorder characterized by microangiopathic hemolytic anemia, thrombocytopenia, and severely reduced or absent ADAMTS13 (A disintegrin and metalloprotease with thrombospondin type 1 repeats, member 13) activity, with varying degrees of organ dysfunction. As TTP is rare in pediatrics, most of the medical and scientific literature has largely reported on adult patients. As a result, limited data exist regarding the clinical features, comorbidities, treatment response, and long-term outcomes in pediatric patients with immune-mediated TTP. A single-center retrospective cohort study was conducted of all children and adolescents presenting to Children's Healthcare of Atlanta, Atlanta, Georgia, between the years 2001 and 2021 with immune-mediated TTP (iTTP). Clinical features, treatments, and outcomes, including long-term neurocognitive function, were analyzed. Eighteen individuals were identified, six of whom had a total of 10 relapses, amounting to 28 episodes overall. Thirty-eight percent of the patients experienced exacerbations but, ultimately, 85% achieved a clinical response and clinical remission. Only one in-hospital death occurred (mortality rate 5.5%). Seventy-three percent of analyzed patients demonstrated long-term neurocognitive abnormalities, including cognitive delay, learning difficulties, and severe depression. Children and adolescents recovering from iTTP are at high risk for neurocognitive deficits from initial and possibly ongoing microvascular disease. Due to risk for long-term neurological deficits, we recommend neuropsychological testing in addition to monitoring of other organ functions in all children with TTP, as well as long-term surveillance of ADAMTS13 activity during remission to detect and promptly treat early relapse.

Clinical Characteristics of Pediatric Patients with Urea Cycle Disorders

Objective: Urea cycle disorders (UCDs) are inherited deficiencies of the enzymes or transport molecules involved in the cellular excretion of excess ammonia produced during protein metabolism. The aim of this study was to evaluate the clinical characteristics and long-term outcome of pediatric patients with UCDs. Material and Methods: Our research was conducted between September 2020-March 2021 in Dr. Sami Ulus Maternity and Child Health Training and Research Hospital. Clinical characteristics in 16 patients with UCDs [carbamoyl phosphate synthetase I deficiency (n=1), N-acetylglutamate synthase deficiency(n=1), argininosuccinate lyase deficiency (n=4), argininosuccinate synthetase deficiency (n=4), arginase deficiency (n=2), ornithine transcarbamylase deficiency (n=2), hyperammonemia hyperornithinemia homocitrullinuria syndrome (n=2)] were defined. The term “neonatal-onset” UCD was used if symptoms occurred within 28 days of life, and “late-onset” if symptoms started after the neonatal period. Results: Eight patients presented with acute metabolic crisis during newborn period. Core clinical phenotype in neonatal-onset UCDs included sepsis-like findings, whereas epilepsy and mental retardation was predominant in lateonset UCDs. For patients with neonatal-onset UCDs, hyperammonemia was more severe at the initial period. Conclusion: Despite evolving treatment opportunities, still high mortality rates were found in neonatal-onset UCD. UCDs should be suspected in pediatric patients with hyperammonemia and metabolic investigations should be performed immediately to enlighten diagnosis. Neonatal-onset UCD usually present with symptoms of acute hyperammonemia, while moresubtle neurological manifestations are frequent initial findings in the late onset UCD.

Sacral-Alar-Iliac (SAI) Fixation in Children With Spine Deformity: Minimum 10-Year Follow-Up.

Sacral-alar-iliac (SAI) screws are utilized to achieve pelvic fixation in spine deformity patients. The primary purpose of this study is to investigate the long-term outcomes of pediatric patients with scoliosis treated with posterior spinal fusion and SAI fixation at 10-year clinical and radiographic follow-up. We reviewed the clinical and radiographic records of patients aged 18 years or below treated for scoliosis with posterior spinal fusion using SAI fixation. Pelvic obliquity and the major coronal curve were determined at the preoperative visit and 6-week, 1-year, 5-year, and 10-year postoperative visits. SAI screw-specific data collected included screw dimensions, rate of screw revision, pain at the SAI screw sites, presence of lucency >2 mm around the screw, screw loosening or breaking, and deep surgical site infections. Ninety-seven of 151 patients (75%) were included. The average age at index surgery was 13.5±3.1 years, and the most common diagnosis was cerebral palsy (67%). The mean duration of follow-up was 11±3 years. The mean pelvic obliquity measured 20±8.0 degrees preoperatively, and 8.7±4.0 degrees at the 10-year follow-up. There were no significant difference in pelvic obliquity when comparing the 10-year follow-up visit with the 6-week postoperative follow-up. Average screw dimensions were 8.4×68.8 mm. By the 10-year follow-up, 4 patients (4%) had at least 1 SAI screw-related complication. Of these patients, 2 (2%) had pain at 1 SAI screw, 4 (4%) had lucency around the screw, and 3 (3%) had broken or loose screws. Two (2%) required SAI screw revision because of late deep wound infection, and underwent exchange with a longer screw. There were no intrapelvic protrusions, vascular, or neurological complications. SAI screws are a safe and effective method for pelvic fixation in children with spinal deformity. The outcomes at ≥10 years are satisfactory, with low rates of long-term complications and excellent postoperative correction and subsequent maintenance of coronal curvature and pelvic obliquity over time. Level IV.

Long-term Outcomes of Pediatric Tracheostomy Home Care in a Limited Resource Setting of Professional Home Nurse

Long-term outcomes of pediatric patients with a tracheostomy in developing countries where professional home nurse is not accessible has rarely been reported. We, therefore, investigated the prevalence and associating factors of long-term outcomes in these children. Retrospective chart review was conducted in 85 tracheostomized children who were discharged to home during January 2012 to December 2020. Tracheostomy home care was provided by caregivers who completed the tracheostomy home care program. Prevalence of unplanned readmission with acute respiratory problems within 30 days after the first hospital discharge was 17.6%. Lower respiratory tract infection (LRTI) after hospital discharge was found in 72.9% (median frequency of 1.0 episode/case/year). Among 80 children who had surveillance airway endoscopy, 46.3% demonstrated late tracheostomy-related airway complications. Independent factor associated with late tracheostomy-related airway complications was a follow-up period longer than 1 year. Decannulation success was found in 21.2%. Most of them had tracheostomy for their upper airway anomalies. The mortality rate was 7%. Most of them died from their underlying diseases. In conclusion, pediatric tracheostomy home care undertaken by caregivers is feasible in developing countries where home nurse is not available. The prevalence of unplanned readmission with acute respiratory problems within 30 days after hospital discharge and late tracheostomy-related airway complications were comparable with those reported in developed countries. However, we still had a high prevalence of post-tracheostomy LRTI which was a challenging problem that needed to be investigated and resolved.

128 - CD45RA-Depleted Haploidentical Transplantation Combined with NK Cell Addback Results in Promising Long-Term Outcomes in Pediatric Patients with High-Risk Hematologic Malignancies

128 - CD45RA-Depleted Haploidentical Transplantation Combined with NK Cell Addback Results in Promising Long-Term Outcomes in Pediatric Patients with High-Risk Hematologic Malignancies