Syndrome In Pediatric Patients Research Articles

A change in QT interval and ST-segment after radiofrequency catheter ablation in pediatric patients with Wolff–Parkinson–White syndrome

BackgroundFew studies have examined QT, JT interval, and ST-segment changes due to radiofrequency catheter ablation (RFA) in manifest Wolff–Parkinson–White (WPW) syndrome in pediatric patients. MethodsThe study involved 27 patients (male-to-female, 13:14; age, 12 (5–16) years) who were diagnosed with WPW syndrome and underwent RFA in our hospital between 2009 and 2022. Electrocardiographic (ECG) changes were compared between the group with ventricular preexcitation due to an accessory pathway (manifest group, n = 16) and those without it (concealed group, n = 11). ResultsThe QT interval before RFA was significantly longer in the manifest group than in the concealed group (402 [362–482] vs. 344 [323–427]; p = 0.001). The QT interval was significantly shortened in the manifest group before and after RFA (402 [362–482] vs. 360 [298–422] msec; p = 0.01). At 1 month, the QT interval difference between the manifest and concealed groups disappeared (366 [305–437] vs. 335 [301–436] msec; p = 0.001). ST-segment changes were found after RFA in 56 % (9/16) of the patients in the manifest group but not in the concealed group. ECG changes presenting the Brugada-pattern was found in one patient. One month later, ECG abnormalities persisted in only one patient. ConclusionsIn pediatric patients, the QT interval was prolonged in manifest WPW syndrome but shortened after RFA. In the manifest group, transient ST-segment change and T-wave abnormalities were often observed after RFA; however, the ECG normalized in approximately 1 month.

Management of Postural Orthostatic Tachycardia Syndrome in Pediatric Patients: A Clinical Review

Postural orthostatic tachycardia syndrome (POTS) is a chronic illness with unknown mortality and high morbidity, often diagnosed in the adolescent years. Published literature regarding POTS primarily focuses on the adult population, and guidance on treatment in pediatrics is sparse. The purpose of this clinical review is to evaluate the current literature on the management of POTS in pediatric patients. A search was conducted using the Cochrane database, Google Scholar, and PubMed. Studies were included if they evaluated the management of POTS, primarily in pediatric patients. Case reports and series were excluded. Eight published studies met the inclusion and exclusion criteria. To date, there are no US Food and Drug Administration-approved agents for the treatment of POTS. However, select pharmacological therapies have shown positive outcomes by addressing symptom origins, such as providing heart rate control, peripheral autonomic modulation, and targeting hypovolemia. Targeted pharmacological therapies studied in children and young adults include ivabradine, metoprolol, midodrine, pyridostigmine, intravenous crystalloid fluids, and fludrocortisone. Before adding pharmacotherapeutic interventions, non-pharmacologic interventions such as patient education, avoidance of symptom-triggering environments and medications, dietary fluid and sodium supplementation, exercise, and use of compression garments should be first attempted. Although the body of evidence for the management of POTS is expanding, additional research is needed to determine safe and efficacious dosing and establish clear guidelines for POTS in the pediatric population.

Incidence of Tethered Cord Syndrome in Pediatric Patients With Neurofibromatosis Type 1

ObjectiveThe link between Tethered Cord Syndrome (TCS) and Neurofibromatosis Type 1 (NF1) remains unclear. To date, only two studies have indicated a high occurrence of TCS in the pediatric NF1 patient population. Our study aims to ascertain the incidence of TCS among Chinese pediatric patients with NF1. MethodsA single-institution, 8-year retrospective analysis at a tertiary-level children's hospital was conducted for patients with NF1 who underwent surgery for TCS. The clinical features, imaging characteristics, genetic testing outcomes, and histopathological findings of pediatric NF1 patients with TCS were analyzed. ResultsDuring the study period, a total of 115 pediatric patients were diagnosed with NF1. Among these 115 NF1 patients, 11 individuals, accounting for 9.6% of the sample, were confirmed to have TCS. This rate of occurrence is significantly higher than the incidence rate of TCS in the general population, which stands at 0.17%. All 11 of the pediatric NF1 patients underwent surgery for TCS. Out of the 11 patients who were advised to have tethered cord release surgery, 4 (which is 36.4%) were girls, and the average age of these 11 patients was 8.6 years old, with ages ranging from 2 to 17 years old. The conus medullaris position of the 11 pediatric NF1 patients ranged from L1 to L2, and 10 of them (91%) had a filum terminale lipoma, characterized by high signal intensity on T1-weighted magnetic resonance (MR) images. Another patient was diagnosed with Occult Tethered Cord Syndrome (OTCS). All 11 pediatric NF1 patients exhibited symptoms associated with TCS, such as neuromotor dysfunction, abnormalities in urination, defecation, skeletal system abnormalities, or pain. Eight of the 11 pediatric NF1 patients had undergone genetic testing, which is a crucial part of the diagnostic process for NF1. The histopathological examination of the 11 pediatric NF1 patients who underwent surgery revealed that 10 patients had fatty infiltration of the filum terminale (FT), while the remaining patient exhibited fibrosis of the filum terminale (FT). ConclusionsIn the group of pediatric patients with NF1, the incidence of TCS, presenting to the pediatric neurosurgery clinic for any reason, is significantly higher than that of the general population. However, the pathophysiological relationship between NF1 and TCS is still not clear. It is essential to provide counseling to NF1 patients and their families about the symptoms of TCS to make sure they are aware and can seek the necessary care when needed. This underscores the importance of not only diagnosing NF1 but also staying alert for related conditions like TCS, which may have a higher occurrence in this demographic.

Diagnosis and management of prune belly syndrome in pediatric patients

Prune-Belly Syndrome has been defined as a rare urological congenital anomaly. Worldwide, a prevalence of 1 per 50,000 live births was described. Among the characteristics that identify this syndrome are the deficiency of the abdominal wall musculature, dilation of the urinary tract and bilateral cryptorchidism. Management requires great interdisciplinary knowledge and even urological surgery. The objective of this work was to identify the main methods of diagnosis and management of Prune Belly Syndrome in pediatric patients through a bibliographic review. The bibliographic review was carried out with articles published from 2017 to 2023 in high-impact journals, 25 articles were found, 8 had case reports and 17 were a theoretical source of information. In short, the key diagnosis is established by means of a prenatal ultrasound, with respect to management it can be conservative or surgical and multidisciplinary management with specialists is important.

Frequency of Non-Thyroidal Illness Syndrome in Pediatric Patients with Sepsis and Septic Shock

Abstract Background Non-Thyroidal Illness Syndrome (NTIS) is considered when patients demonstrate abnormal thyroid functions and levels decrease at onset of infection and keep decreasing with disease progression. Levels usually get normalized after the illness is cured. NTIS is not studied well in pediatric population. Aim of the Work Assess the hormonal changes of NTIS in sepsis and septic shock patients. Furthermore, Follow up the severity of NTIS and its effect on outcome. Patients and Methods This study (1st phase: Cross-sectional, 2nd phase: Prospective) included 40 critically ill children categorized into two groups: (i) Sepsis group : was defined according to standard international criteria using pediatric Sequential Organ Failure Assessment (p SOFA) score and sepsis was considered when p SOFA score > 2 (ii) Septic shock group: was defined by a vasopressor requirement to maintain a mean arterial pressure ≥ 65 mm Hg and having a serum lactate level > 2 mmol/L despite adequate fluid resuscitation (Singer et al., 2016), with 20 patients in each group. Patients were admitted to the pediatric intensive care unit (PICU). Thyroid hormone levels were assessed and compared in day 1 and day 5 in all patients and subgroups. All patients were followed up until discharge or death. ROC curve and Univariate and multivariate approaches were used to assess the link between thyroid hormones and prediction of mortality. Results NTIS was found in 47.5% of patients. NTIS was higher among septic shock group than sepsis 65.5% versus 30% (p value = 0.027). NTIS was associated with each of ventilation, catecholamines infusion and SOFA score (p value =0.044, 0,027 and 0.033) respectively. FT3 (Free triiodothyronine) levels were lower and rT3 (reverse T3) levels were higher in day 5 of illness than day 1 (p value =0.041and 0.000) respectively. Furthermore, FT3 levels in day 5 were lower, and rT3 levels in day 1 and day 5 were higher in non survivors than survivors (p value =.0.002, 0.015 and 0.003) respectively. ROC curve to assess thyroid hormone levels, SOFA score and CRP (C-reactive protein) as predictors of mortality revealed that FT3 levels in day 5 was the best in predicting PICU mortality (sensitivity 100%, and specificity 68.42%), Followed by SOFA score day 5 (sensitivity 100%, and specificity 57.89%). In the multivariate regression analysis, we discovered that high rT3 levels in day1 and CRP in day 5 were independently associated with PICU mortality. Conclusion NTIS is common among critically ill children and higher among septic shock group than sepsis. Also, Beside the SOFA score, FT3 measured in day5 of illness and rT3 measured in day1 of illness were the best predictors of PICU mortality.

Clinical and Laboratory Profile of Dengue Syndrome in Pediatric patients: Study in a Tertiary Care Hospital, Dhaka, Bangladesh

Introduction: Dengue fever is a mosquito-borne arboviral (arthropod-borne virus) disease which is of global concern. This fever is a benign syndrome caused by an arthropod-borne virus and is characterized by Biphasic fever, myalgia, arthralgia, rash, leukopenia, and lymphadenopathy. Aim of the study: This study aimed to evaluate the clinical and laboratory profile of dengue fever in children less than 15 years old admitted to an urban hospital. Methods: This retrospective study was conducted in the Department of Paediatrics of Anwer Khan Modern Medical College Hospital (AKMMCH), Dhaka, Bangladesh during the period from 4 April 2019 to 9 September 2019. They have followed up on the symptoms, platelet count and management of the patients. Data were analysed by using MS-Excel-2016. Result: In total 98 patients from both groups completed the study. In our study, we found a maximum of 54.08% were male, more than half 53(54.08%) patients were below five years of age, about 95(96.94%) of the patients had a fever. Maximum patients, 81(82.65%), were managed by I/V fluid, more than 72(73.47%) of the patients were managed by paracetamol. Others by antibiotics 16(16.33%), platelet transfusion 14(14.29%) and blood transfusion 12(12.24%). Other management also includes plasma, & dopamine. Conclusion: These study children about 0-15 years of age more commonly suffer from dengue fever. As the vaccine is not available in Bangladesh, these patients need a timely diagnosis and critical monitoring during the disease course to prevent severity and mortality.

Risk of Acute Compartment Syndrome in Pediatric Patients With Tibial Tubercle Avulsion Fractures: A Retrospective Review.

Tibial tubercle avulsion fractures (TTAFs) represent 0.4% to 2.7% of pediatric physeal injuries. These injuries are thought to confer a risk of acute compartment syndrome (ACS), and these patients are often admitted for compartment monitoring and, in many cases, undergo prophylactic fasciotomy. This study sought to review our institution's experience with TTAF and associated compartment syndrome in pediatric patients. All patients aged 8 to 18 years with TTAF at our institution from January 1, 2017 to January 1, 2023 were retrospectively reviewed. Patient demographics, injury mechanism, fracture morphology, and postinjury course were reviewed. ACS was diagnosed by clinical exam or necessitating therapeutic compartment fasciotomy. A total of 49 TTAFs in 47 patients were included in the final analysis. The mean age was 14.5 ± 1.2 years (range: 11 to 17), and males were significantly older than females (14.6 ± 1.1 vs 13.3 ± 1.3 y, P = 0.01). The average body mass index was 27.1 ± 7.0, and males had a significantly lower body mass index than females (26.3 ± 6.5 vs 34.1 ± 8.5, P = 0.03). Basketball was the most common mechanism of injury (49%), followed by soccer (13%), football (11%), trampoline (6%), fall (6%), jumping (4%), lacrosse (4%), running (4%), and softball (2%). The Ogden fracture types were as follows: I: 10%; II: 16%; III: 41%; IV: 24%; V: 8%. Thirty-four patients (69%) were admitted to the hospital for at least one night after presentation. Forty-six (96%) underwent surgical fixation an average of 3.5 days after injury. No patients developed ACS during their post-injury or postoperative course. Three patients underwent the removal of hardware. No other complications were observed. The average follow-up duration was 238 days. The results of this study suggest that the risk of ACS in pediatric patients with TTAF may be small enough to allow for same-day discharge after diagnosis or operative management in patients deemed to be sufficiently low risk by clinical judgment. Level III-retrospective comparative study.

Novel therapeutic approaches for steroid-resistant nephrotic syndrome in paediatric patients: a comprehensive review

Steroid-resistant nephrotic syndrome poses a significant therapeutic challenge in paediatric nephrology. Previously exact cause of steroid-resistant nephrotic syndrome was mostly unknown. Recently, advancements in diagnostic intervention, they are found to be a heterogeneous entity having an immune basis and genetic aetiology. With a better understanding of the pathogenesis of SRNS, leading to the development of novel therapeutic strategies. Novel therapeutic options include extracorporeal therapy, monoclonal antibodies, stem cell therapy, ACTH and galactose. The aim of this study was to provide an overview of emerging therapies for SRNS in paediatric populations.

Prevalence of dry eye syndrome in a South African diabetic paediatric population

BackgroundDiabetes mellitus (DM) can be defined as a metabolic disorder that results from either the inability of insulin to perform its normal functions or decreased insulin secretion. Dry eye disease is a complex ailment of the tear film resulting in discomfort characterised by pain, a feeling of heavy eyes, grittiness, burning, dryness, itchiness, foreign body sensation, and visual disturbances. Patients with chronic conditions, i.e. DM, are more susceptible to developing dry eye due to various complications that may arise, such as, peripheral neuropathy, inflammatory alterations and reduced lacrimal gland function. AimTo identify the prevalence of dry eye syndrome in paediatric patients diagnosed with Diabetes Mellitus (Type 1/2). Method37 children with diabetes and 40 healthy, age group matched controls were enrolled in this study. Participants underwent a complete dry eye assessment in the following order: Ocular Surface Disease Index (OSDI) and McMonnies questionnaire, meibomian gland evaluation using white light, Tear Break-up Test (TBUT), Phenol Red Thread (PRT) test and Tear film Osmolarity test. Duration of diabetes was used as the parameter. ResultsThe incidence of dry eye syndrome was found to be higher among diabetics, with 15 (40.5 %) from the diabetic population compared to 4 (10.0 %) from the control group. TBUT and PRT test values were significantly reduced in children with diabetes (p < 0.001). TFO values were higher in the diabetics. No statistically significant differences were found the questionnaire scores, of the two groups, however the diabetic group appeared to be less symptomatic. ConclusionDry eye is more common in the diabetic paediatric population. TBUT and PRT results were found to be lower in diabetics. Results showed a strong correlation between duration of diabetes and TBUT values. Healthcare practitioners, working with children diagnosed with diabetes, should raise awareness as well as encourage early dry eye screening and intervention. Clinical significanceDue to the steady increase in the number of children and adolescents with diabetes, the characteristics and prevalence of dry eye syndrome in this population has become more valuable.

Evaluation of Plummer-Vinson syndrome in pediatric patients with dysphagia

Aim: In our study, after excluding all other causes of dysphagia in the pediatric age, we tried to present the patients who were followed up and treated with the diagnosis of Plummer-Vinson syndrome(PWS) with iron deficiency anemia and dysphagia. Our aim is to emphasize that there may be dysphagia that can only be cured with anemia treatment and that it can be improved with treatment by a pediatrician. Material method: Pediatric patients who applied to our hospital with the complaint of dysphagia between May 2019-November 2020 were included in the study. After excluding all other causes of dysphagia, patients diagnosed with PWS were evaluated retrospectively. It was aimed to evaluate the age, gender, type, characteristics and duration of dysphagia of the patients retrospectively and to present them in the light of the literature. Results: PWS was detected in 24 of 200 pediatric patients who presented with dysphagia. The proportion of male patients was 37.5%, and their mean age was 97 months. The mean duration of dysphagia complaints was 11.2 months. Four patients had difficulty swallowing liquid food only, 12 patients had solid swallowing difficulties, and 8 patients had difficulty swallowing both solid and liquid food. Anemia was diagnosed by performing a complete blood count and having hemoglobin and hematocrit levels below 2 standard deviations appropriate for age; Those with vitamin B12 levels below 200 pg/ml were defined as cobalamin deficiency. Esophageal web was detected in 4 patients who underwent contrast esophagography. In esophagogastroduodensoscopy, stenosis was treated endoscopically in patients with web. In 20 patients, dysphagia did not persist after six months of iron deficiency anemia treatment. Conclusion: Although the diagnosis of PVS is rare in children, it should be considered and treated in all children with dysphagia associated with iron deficiency anemia. Patients whose complaints continue after treatment at the appropriate dose and duration should be referred for pediatric gastroenterology evaluation.

Retrospective analysis of veno-occlusive disease/sinusoidal obstruction syndrome in paediatric patients undergoing hematopoietic cell transplantation -a multicentre study

BackgroundSinusoidal obstructive syndrome is a potentially fatal complication following hematopoietic cell transplantation, high-intensity chemotherapies and increasingly seen with calicheamicin based leukaemia therapies. Paediatric specific European Society for Blood and Marrow Transplantation (pEBMT) diagnostic criteria have demonstrated benefit in single centre studies compared to historic criteria. Yet, the extent to which they have been universally implemented remains unclear. MethodsWe conducted a retrospective multi-centre study to examine the potential impact of the Baltimore, modified Seattle and pEBMT criteria on the incidence, severity, and outcomes of sinusoidal obstructive syndrome among paediatric hematopoietic cell transplantation patients. FindingsThe incidence of sinusoidal obstructive syndrome in this cohort (n=488) was higher by pEBMT (21·5%) versus historic modified Seattle (15·6%) and Baltimore (7·0%) criteria (p<0·001). Application of pEBMT criteria identified 44 patients who were not previously diagnosed with sinusoidal obstructive syndrome. Overall, 70·5% of all patients diagnosed with sinusoidal obstructive syndrome ultimately developed severe/very severe disease and almost half of diagnosed patients required critical care support. Overall survival was significantly lower in patients who were diagnosed with sinusoidal obstructive syndrome versus those who were not. InterpretationTaken together, pEBMT criteria may be a sensitive method for prompter diagnosis of patients who subsequently develop severe/very severe sinusoidal obstructive syndrome. To our knowledge, this is the first multi-centre study in the United States (US) to demonstrate that pEBMT guidelines are associated with earlier detection of sinusoidal obstructive syndrome. Since early initiation of definitive treatment for sinusoidal obstructive syndrome has been associated with improved survival in paediatric patients and implementation of pEBMT criteria appears feasible in the US, universal adoption should facilitate prompter diagnosis and lead to improved outcomes of children with sinusoidal obstructive syndrome.Funding: None

CAFES: Chest X-ray Analysis using Federated Self-supervised Learning for Pediatric COVID-19 Detection.

Chest X-rays (CXRs) play a pivotal role in cost-effective clinical assessment of various heart and lung related conditions. The urgency of COVID-19 diagnosis prompted their use in identifying conditions like lung opacity, pneumonia, and acute respiratory distress syndrome in pediatric patients. We propose an AI-driven solution for binary COVID-19 versus non-COVID-19 classification in pediatric CXRs. We present a Federated Self-Supervised Learning (FSSL) framework to enhance Vision Transformer (ViT) performance for COVID-19 detection in pediatric CXRs. ViT's prowess in vision-related binary classification tasks, combined with self-supervised pre-training on adult CXR data, forms the basis of the FSSL approach. We implement our strategy on the Rhino Health Federated Computing Platform (FCP), which ensures privacy and scalability for distributed data. The chest X-ray analysis using the federated SSL (CAFES) model, utilizes the FSSL-pre-trained ViT weights and demonstrated gains in accurately detecting COVID-19 when compared with a fully supervised model. Our FSSL-pre-trained ViT showed an area under the precision-recall curve (AUPR) of 0.952, which is 0.231 points higher than the fully supervised model for COVID-19 diagnosis using pediatric data. Our contributions include leveraging vision transformers for effective COVID-19 diagnosis from pediatric CXRs, employing distributed federated learning-based self-supervised pre-training on adult data, and improving pediatric COVID-19 diagnosis performance. This privacy-conscious approach aligns with HIPAA guidelines, paving the way for broader medical imaging applications.

Review of Opsoclonus-Myoclonus Ataxia Syndrome in Pediatric Patients.

Opsoclonus-myoclonus ataxia syndrome (OMAS), also known as Kinsbourne syndrome, is a rare disorder that presents with myoclonus, ataxia, abnormal eye movements, irritability, and sleep disruptions, often in young children. We report a case of an infant barely 6 months old, with no significant past medical history, who presented to the emergency department with tremors, jerking motions of the head and arms, and rapid eye movements. After an extensive workup, she was found to have a neuroblastoma, which was subsequently surgically removed via thoracotomy. Despite an initial improvement in symptoms post-resection, the patient's symptoms recurred. She was subsequently treated with dexamethasone, intravenous immunoglobulin (IVIG), and rituximab. After treatment, the patient was noted to have mild global developmental delays but was otherwise well. This case report highlights the rare occurrence of OMAS in an infant barely 6 months old at diagnosis. Using the PubMed database, a systematic review was conducted to highlight the clinical presentation, diagnosis, and management of OMAS.

Mimics of Guillain-Barré Syndrome in Pediatric Patients Admitted to the Neuro-Intensive Care Unit of a Tertiary Care Hospital-A Case Series.

Guillain-Barré syndrome is the most common cause of acute flaccid paralysis in children, but several diseases mimic GBS. We aimed to identify and report the clinical pointers and battery of tests required to differentiate Guillain-Barré syndrome from its observed mimics in the pediatric population admitted to our neuro-critical care unit. We conducted a retrospective record analysis of all pediatric patients admitted over ten years from 2008-2018, whose initial presentation was compatible with a clinical diagnosis of GBS. Eighty-three patients were at first treated as GBS, of which seven (8.4%) were found to have an alternate diagnosis-three cases of paralytic rabies, one case each of acute disseminated encephalomyelitis, cervical myeloradiculopathy, neuromyelitis optica, and a case of community-acquired Staphylococcus aureus pneumonia associated sepsis. Neurophysiological and neuro-virological testing, central nervous system imaging, and sepsis screening helped to confirm the alternate diagnosis. Our case series provides knowledge of subtle clinical differences along with the mindful use of diagnostic testing to facilitate the accurate diagnosis of GBS mimics.

Zinner syndrome in pediatric patients: rare disease leading to challenging management.

Zinner syndrome (ZS) is the association of seminal vesicle cysts, ipsilateral ejaculatory duct obstruction, and ipsilateral renal agenesis. This condition is very rare in children and both diagnosis and treatment may be challenging. We reviewed the clinical presentation and treatment describing our experience with a series of three patients. From January 2016 to January 2021, three patients (patients 1, 2, and 3) with symptomatic ZS, aged 2, 15, and 17 years, respectively, were diagnosed and treated. All three patients were symptomatic, manifesting pelvic pain and dysuria. The diagnosis was made by physical examination, ultrasonography, and abdominopelvic MRI. Patient 1 underwent open surgery, while for patients 2 and 3, laparoscopic excision was performed. The renal agenesis regarded the left side in patients 1 and 3, and the right side in patient 2. In all cases, the cystic complex was excised. The mean operating time was 4 h and the mean hospitalization time was 5 days (range 4-6 days). The mean follow-up period was 5 years (range 2-5 years). Patients 1 and 3 showed a complete resolution of the symptoms during postoperative follow-up. In patient 2, clinical symptoms relapsed because of the persistence of a 9 mm cyst requiring a redo laparoscopic excision. Seminal vesicle cyst with ipsilateral renal agenesis, even if rare in pediatric age, should be suspected in young male patients presenting with pelvic cystic masses, pelvic pain, dysuria, and ipsilateral renal absence. Conservative management should be reversed to asymptomatic patients. Surgical treatment is mandatory in symptomatic cases and the preferred approach is minimally invasive surgery to magnify the operating field to spare anatomical structures, primarily the contralateral vas deferens. Radicality is crucial to avoid the persistence of symptoms and the need for reintervention.

Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.

Bardet-Biedl Syndrome (BBS) is an autosomal recessive non-motile ciliopathy, caused by mutations in more than twenty genes. Their expression leads to the production of BBSome-building proteins or chaperon-like proteins supporting its structure. The prevalence of the disease is estimated at 1: 140,000 - 160,000 of life births. Its main clinical features are retinal dystrophy, polydactyly, obesity, cognitive impairment, hypogonadism, genitourinary malformations, and kidney disease. BBS is characterized by heterogeneous clinical manifestation and the variable onset of signs and symptoms. We present a case series of eight pediatric patients with BBS (6 boys and 2 girls) observed in one clinical center including two pairs of siblings. The patients' age varies between 2 to 13 years (average age of diagnosis: 22 months). At presentation kidney disorders were observed in seven patients, polydactyly in six patients' obesity, and psychomotor development delay in two patients. In two patients with kidney disorders, the genetic tests were ordered at the age of 1 and 6 months due to the presence of symptoms suggesting BBS and having an older sibling with the diagnosis of the syndrome. The mutations in the following genes were confirmed: BBS10, MKKS, BBS7/BBS10, BBS7, BBS9. All described patients developed symptoms related to the urinary system and kidney-function impairment. Other most common symptoms are polydactyly and obesity. In one patient the obesity class 3 was diagnosed with multiple metabolic disorders. In six patients the developmental delay was diagnosed. The retinopathy was observed only in one, the oldest patient. Despite having the same mutations (siblings) or having mutations in the same gene, the phenotypes of the patients are different. We aimed to addresses gaps in understanding BBS by comparing our data and existing literature through a narrative review. This research includes longitudinal data and explores genotype-phenotype correlations of children with BBS. BBS exhibits diverse clinical features and genetic mutations, making diagnosis challenging despite defined criteria. Same mutations can result in different phenotypes. Children with constellations of polydactyly and/or kidney disorders and/or early-onset obesity should be managed towards BBS. Early diagnosis is crucial for effective monitoring and intervention to manage the multisystemic dysfunctions associated with BBS.

A chimeric influenza virus vaccine expressing fusion protein epitopes induces protection from human metapneumovirus challenge in mice.

Human metapneumovirus (HMPV) is a common virus associated with acute respiratory distress syndrome in pediatric patients. There are no HMPV vaccines or therapeutics that have been approved for prevention or treatment. In this study, we constructed a novel recombinant influenza virus carrying partial HMPV fusion protein (HMPV-F), termed rFLU-HMPV/F-NS, utilizing reverse genetics, which contained (HMPV-F) in the background of NS segments of influenza virus A/PuertoRico/8/34(PR8). The morphological characteristics of rFLU-HMPV/F-NS were consistent with the wild-type flu virus. Additionally, immunofluorescence results showed that fusion proteins in the chimeric rFLU-HMPV/F-NS could work well, and the virus could be stably passaged in SPF chicken embryos. Furthermore, intranasal immunization with rFLU-HMPV/F-NS in BALB/c mice induced robust humoral, mucosal and Th1-type dominant cellular immune responses in vivo. More importantly, we discovered that rFLU-HMPV/F-NS afforded significant protective efficacy against the wild-type HMPV and influenza virus challenge, with significantly attenuated pathological changes and reduced viral titers in the lung tissues of immunized mice. Collectively, these findings demonstrated that chimeric recombinant rFLU-HMPV/F-NS as a promising HMPV candidate vaccine has potentials for the development of HMPV vaccine.

Acute Compartment Syndrome in Pediatric Patients on Extracorporeal Membrane Oxygenation Support.

When acute compartment syndrome (ACS) occurs in pediatric patients requiring venoarterial extracorporeal membrane oxygen (VA ECMO) support, there is little data to guide surgeons on appropriate management. The purpose of this study is to characterize the presentation, diagnosis, timeline, and outcomes of patients who developed this complication. This is a single-center retrospective case series of children below 19 years old on VA ECMO support who subsequently developed extremity ACS between January 2016 and December 2022. Outcomes included fasciotomy findings, amputation, mortality, and documented function at the last follow-up. Of 343 patients on VA ECMO support, 18 (5.2%) were diagnosed with ACS a median 29 hours after starting ECMO. Initial cannulation sites included 8 femoral, 6 neck, and 4 central. Femoral artery cannulation was associated with an increased risk of ACS [odds ratio=6.0 (CI: 2.2 to 15), P <0.0001]. In the hospital, the mortality rate was 56% (10/18). Fourteen (78%) patients received fasciotomies a median of 1.2 hours after ACS diagnosis. Only 4 (29%) patients had all healthy muscles at initial fasciotomy, while 9 (64%) had poor muscular findings in at least 1 compartment. Patients with worse findings at fasciotomy had a significantly longer duration between ischemia onset and ACS diagnosis. Patients required a median of 1.5 additional procedures after fasciotomy, and only 1 (7%) developed a surgical site infection. Of the 7 surviving fasciotomy patients, 2 required amputations, 3 developed an equinus contracture, 1 developed foot drop, and 3 had no ACS-related deficits. Four patients did not receive fasciotomies: 3 were deemed too ill and later died, and 1 was diagnosed too late to benefit. The only surviving nonfasciotomy patient required bilateral amputations. Pediatric ECMO-associated ACS is not exclusive to patients with femoral artery cannulation. The majority of fasciotomy patients were diagnosed with ACS after muscle necrosis had already started. We were unable to definitively conclude whether fasciotomies provide better outcomes. There is a need for increased awareness and earlier recognition of this rare yet potentially devastating complication. Level IV-retrospective case series.

Analysis of Laboratory Parameters before the Occurrence of Hepatic Sinusoidal Obstruction Syndrome in Pediatric Patients after Hematopoietic Stem Cell Transplantation

Introduction: Hepatic sinusoidal obstruction syndrome (SOS), also known as veno-occlusive disease of the liver, is a serious complication following hematopoietic stem cell transplantation (HSCT). Early diagnosis and treatment with defibrotide can improve patient outcome. The pathogenesis is not fully understood, but it is obvious that some laboratory parameters are already changed before the onset of SOS. The aim of our retrospective study was to detect laboratory parameters following HSCT that can predict the occurrence of SOS. Methods: We analyzed 182 children with a median age of 7.2 years who underwent allogeneic or autologous HSCT for the first time and without defibrotide prophylaxis. Our study population consisted of 126 patients who received allogeneic HSCT (69.2%) and 56 patients who underwent autologous HSCT (30.8%). The stem cell sources were peripheral blood stem cells (50.5%) or bone marrow (49.5%) and the most frequent underlying diseases were solid tumors (34.1%), genetic diseases (19.2%), acute lymphoblastic leukemia (18.1%), and acute myeloid leukemia (13.7%). The diagnosis of SOS was based on the pediatric criteria of European Society for Blood and Marrow Transplantation. We investigated the following 15 laboratory parameters after HSCT before the onset of SOS: international normalized ratio (INR), activated partial thromboplastin time (aPTT), reptilase time, factor VIII, factor XIII, von Willebrand factor (vWF), von Willebrand factor activity (vWF activity), fibrinogen, antithrombin III, protein C, protein S, D-dimer, alanine aminotransferase (ALT), bilirubin, and ferritin. The last laboratory values within one week before the onset of SOS were analyzed in the SOS patient group. In the non-SOS patient group, we investigated the parameters for four weeks after transplantation and calculated the median. We selected cut-off values for the continuous parameters based on receiver operating characteristic curves analyses and existing reference values. We performed Mann-Whitney U test, univariate and multivariate analyses to find significant ( P &amp;lt; .05) associations between the values of laboratory parameters and the occurrence of SOS. The probability of developing SOS was calculated using the significant independent variables. Results: The overall incidence of SOS was 14.8% at a median time of 13 days after HSCT. SOS developed in 24 of 126 allogeneic (19.1%) and in 3 of 56 autologous (5.4%) HSCT patients. Only 3 out of 27 patients (11.1%) who suffered from very severe SOS died within 100 days after HSCT. In the univariate analysis, we found significant associations between the onset of SOS and the following parameters: INR ≥ 1.3, aPTT ≥ 40 sec, reptilase time ≥ 18.3 sec, factor VIII ≤ 80%, antithrombin III ≤ 75%, protein C ≤ 48%, D-dimer ≥ 315 µg/L, bilirubin ≥ 9 µmol/L, and ferritin ≥ 3100 µg/L. In multivariate analysis, we confirmed INR ≥ 1.3 [odds ratio (OR) = 8.104, P = .006], aPTT ≥ 40 sec (OR = 10.174, P = .001), protein C ≤ 48% (OR = 5.215, P = .014), and ferritin ≥ 3100 µg/L (OR = 7.472, P = .004) as independent risk factors after HSCT before SOS. If three of the four significant cut-off values were present, the probability of developing SOS was more than 70%. The probability of SOS was 96%, if all four laboratory parameters were changed according to the cut-off values. The values of factor XIII, vWF, vWF activity, protein S, fibrinogen, and ALT were not relevant for the occurrence of SOS. Conclusions: In summary, the laboratory parameters INR, aPTT, protein C, and ferritin were very useful to predict the occurrence of SOS. These four parameters can enable earlier diagnosis and treatment leading to an improved outcome. In addition, this is the first report on a significant association between SOS and high values of INR and aPTT after HSCT before SOS.

A single-center study of clinical features of pediatric Sjögren’s syndrome

ObjectiveSjögren’s syndrome (SS) is a rare disease with unclear diagnostic criteria among the children and adolescents. The purpose of this study is to describe the clinical features of pediatric Sjögren’s syndrome and validate with Japanese diagnostic guidelines criteria of 2018.MethodsWe conducted a retrospective analysis of the clinical data of a cohort of 54 patients with pediatric Sjögren’s syndrome admitted to our hospital over a total of 10 years from September 2013 to September 2022.ResultsThe ratio of females to males was 49:5 among the 54 children (34 cases of primary SS and 20 cases of secondary SS), the average age of onset of symptoms for the first time was 9.9 years, and the average age at diagnosis was 10.2 years. In terms of subjective symptoms, 7 cases (13.0%) presented with dry mouth and 5 cases (9.3%) reported dry eyes. The positive rates were 9.3% for Schirmer I test, 70.4% for salivary gland function test, and 55.6% for salivary gland ultrasonography. The positive rates were 94.4% for Anti-Ro/SSA antibodies, 66.7% for Anti-La/SSB antibodies, 88.9% for ANA, 59.3% for RF, and the elevation rate of IgG was 63.0%. Among the EULAR Sjögren’s syndrome disease activity index (ESSDAI) domains, the biological, constitutional, glandular, cutaneous, and lymphadenopathy domains were most involved. Treatment consisted of glucocorticoids in 88.9% of the patients in our study and hydroxychloroquine in 92.6%. As per the Japanese version of the clinical practice guidance for Sjögren’s Syndrome in pediatric patients (2018), 5 cases were identified as Definite SS, 35 cases as Probable SS, and 14 cases as Possible SS. With respect to primary and secondary SS, there was essentially no significant difference between the groups in any of the above aspects.ConclusionsPatients with pediatric SS presented with a wide spectrum of clinical features, a low prevalence of reported symptoms of dry mouth and dry eyes, and various clinical manifestations with multi-system involvement. These are similar to other pediatric study cohorts in terms of epidemiology, auxiliary investigation results, disease activity scores, and treatment. The coincidence between our study and the Japanese version of the clinical practice guidance for Sjögren’s Syndrome in pediatric patients (2018) is good for the diagnosis of pediatric SS.