L1 syndrome is an X-linked disorder manifesting with congenital hydrocephalus, adducted thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung disease, with mutations in the L1CAM gene thought to underlie both. We present a novel pathogenic L1CAM variant in someone with L1 syndrome and Hirschsprung disease.

Multifocal lesions with necrotic center and peripheral enhancement can be a diagnostic challenge. Magnetic resonance imaging with advanced sequences, such as perfusion, can be confusing, as some inflammatory lesions can show hyperperfusion, mimicking tumors. We present a case of neurotuberculosis with multifocal lesions which diagnosis was confirmed by brain biopsy.

Herniation of intra-abdominal viscera through pelvic bone defects represents an extremely uncommon complication following orthopaedic interventions in the bony pelvis. We report a rare case of acute colonic obstruction through a defect in the iliac bone, following bone graft harvesting from the iliac crest, aiming to raise clinical awareness.

A patient presented with cauda equina syndrome signs on a background of intrathecal pump implantation for chronic pain. Initial investigations were consistent with a granuloma, a common complication of intrathecal pumps. CSF cytometery revealed a lymphocytosis. This patient represented 2 months later with neck signs secondary to a B-cell-lymphoma.

Mathematical modeling of uncertain FIDEs is an extremely significant topic in electric circuits, signal processing, electromagnetics, and anomalous diffusion systems. Based on the RKA, a touching numerical approach is considering in this study to solve groups of FFIDEs with ABC fractional distributed order derivatives. The solution-based approach ‎lies in generating infinite orthogonal basis from kernel functions, where uncertain condition is fulfilled. Thereafter, an orthonormal basis is erected to figurate fuzzy ABC solutions with series shape in idioms of η-cut extrapolation in Hilbert space A(D) and B(D). In this orientation, fuzzy ABC fractional integral, fuzzy ABC fractional derivative, and fuzzy ABC FIDE are utilized and comprised. The competency and accuracy of the suggested approach are indicating by employing several experiments. From theoretical viewpoints, the acquired results signalize that the utilize approach has several merits in feasibility and opportunity for treating with many fractional ABC distributed order models. In the end, highlights and future suggested research work are eluded.

The first-principles methods based on the density functional theory were employed to study the structural stability, segregation and work function of Mg doped with fourteen metal elements existing in human body. The calculated results show that there is a simple correlation between solid solution and segregation. Doping Sn, Y, Li, Gd, Nd, Sc and Zn atoms have a negative formation energy as well as a positive segregation energy. This suggests that these elements which are not easier to be dissolved in Mg matrix tend to segregate on the Mg (0001) surface. An opposite trend was observed for Ba, Fe, Mn, W, Sr, Ca and Mo. On the other hand, the electronic work function of Mg (0001) surface was increased significantly for doping Mo, W, Fe, and Mn, and was reduced markedly for Ba, Ca and Sr. For Li, Sn, Sc, Gd, and Y, their doping on Mg surface generate a relatively small change in work function. In addition, the relationships of corrosion behavior to segregation and work function were discussed. This study may provide an avenue for seeking a more appropriate alloying element of Mg alloys with improved corrosion resistance in biomedical applications.

Field measurements were conducted to study the influence of aquatic vegetation on flow structures in floodplains with the hydrodynamic conditions dominated by combined current and wind-driven wave. Wave and turbulent flow velocity components were decomposed from the time series of instantaneous velocity and analyzed separately. With the ratio of wave excursion to stem spacing less than 0.5, the interaction between wave and vegetation was weak in present study, leading to the vertical distributions of time-averaged velocity (Uhoriz) and turbulent kinetic energy (TKE) with the presence of vegetation similar with the vegetated flow structures under pure current conditions. For emergent vegetations, Uhoriz and TKE distributed uniformly through the entire water column or increased slightly from bed to water surface. Similar distributions were present in the lower part of submerged vegetations. Within the upper part of submerged vegetations, Uhoriz and TKE increased rapidly toward water surface and TKE reached its maximum near the top of vegetation. With small Ew/S the wave orbital velocity (Uw) within vegetation was not attenuated when compared with the Uw above vegetation, and Uw through the entire water column can be predicted by the linear wave theory. However, wind-driven waves made the turbulence generated near the top of canopy penetrate a deeper depth into vegetation than predictions under pure current conditions.

Background: allergic rhinitis is a common childhood disease responsible for a major impact on quality of life and health care resources. Many hypotheses have been proposed to explain the link between allergy and otitis media, although a definitive mechanism has not been identified yet. One of the major critical points is that authors failed in distinguishing among different phenotypes of middle ear inflammation. This review pointed out evidence from the laboratory and clinical experience to link allergy to different phenotypes of otitis media in children. Methods: we performed a systematic review in accordance with the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) process. Our search yielded 3010 articles that were finally screened. This resulted in 20 publications of which the full texts included for the qualitative analysis based on different phenotypes of otitis media. Results: clinical evidences and analyses of biomarkers suggested that allergy may be linked to some phenotypes of otitis media and, in particular, to otitis media with effusion and acute re-exacerbations in children with middle ear effusion. It was not possible to perform the analysis for allergy and acute and chronic otitis media because of paucity and heterogeneity of data. Conclusion: Allergy should be considered in the diagnostic work up of different phenotypes of otitis media. Clinicians should evaluate prompt and accurate treatment of allergy in improving outcomes, although futures studies are required to increase evidence supporting that anti-allergy treatment may be effective in the recovery and outcome of otitis media with effusion.

Background: Children with allergic symptoms tend to have behavioral or emotional problems. However, previous studies on this association did not control for factors such as parenting stress, demographic characteristics, or allergy presentation. This study aimed to investigate the relationship between childhood allergic symptoms and behavioral problems, adjusted for confounders such as demographic characteristics, parenting stress, and allergy-related variables. Methods: We conducted an online cross-sectional survey among caregivers of children aged 2-6 years (n=633). The Strengths and Difficulties Questionnaire (SDQ) score was used as the primary measure of children’s behavioral characteristics. Data on history of wheezing, eczema, and rhinitis were collected from the children’s caregivers, using a standardized questionnaire, based on the International Study of Asthma and Allergies in Childhood. Associations were estimated using logistic regression analyses with propensity score to adjust for confounding factors. Results: Univariate analyses showed that history of wheezing was associated with conduct problems, a behavioral component of the SDQ. History of eczema was also associated with hyperactivity. Furthermore, nose symptoms were associated with conduct and emotional problems. After adjusting for potential confounders, history of wheezing (adjusted odds ratio [OR]=1.69, 95% confidence interval [CI]: 1.04-2.75) and nose symptoms (adjusted OR=1.56, 95% CI: 1.05-2.34) remained associated with increased risk of conduct problems. Conclusions: This study revealed that history of wheezing and rhinitis in children are associated with increased risk of behavioral problems, in particular, that of conduct problems. This evidence may inform future research into childhood allergy symptoms and their behavioral problems.

Aim: In theory, long-distance dispersal (LDD) outside a species’ range contributes to genetic divergence. However, previous studies have not discriminated this process from vicariant speciation in migratory bird species. We conducted an integrative phylogeographic approach to test the LDD hypothesis, which predicts that a Japanese migratory bird subspecies diverged from a population in the coastal region of the East China Sea (CRECS) via LDD over the East China Sea (ECS). Location: East Asia Taxon: Brown Shrike (Lanius cristatus) Methods: Both a haplotype network and a multi-locus gene network of its three subspecies were reconstructed to examine from which continental population the Japanese subspecies diverged. A species distribution model (SDM) for the Japanese subspecies was constructed using bioclimatic variables under the maximum entropy algorithm. It was projected to the climate of the last glacial maximum (LGM) to infer the candidate source area of colonisation. A migratory route of the Japanese subspecies, which possibly reflects a candidate past colonisation route, was tracked by light-level geolocators. Results: Molecular phylogenetic networks suggest that the Japanese subspecies diverged from a population in the CRECS. The SDM inferred that the emerged continental shelf of the ECS and the present CRECS were suitable breeding areas for the Japanese subspecies during the LGM. A major migratory route for the Japanese subspecies was inferred between the CRECS and the Japanese archipelago across the ECS. Main conclusions: Our integrative approach supported the LDD hypothesis for divergence of the Japanese subspecies of the Brown Shrike. Shrinkage and expansion of the ECS may have been responsible for successful colonisation and isolation of the new population. Vicariance was inferred for divergence of the subspecies in the northeast Asian continent from the Japanese population. Our framework provides a new phylogeographic scenario in this region, and discriminating LDD and vicariance models should improve our understanding of the phylogeographic histories of migratory species.

Background: Esophageal histology is critical for diagnosis and surveillance of disease activity in eosinophilic esophagitis (EoE). A validated noninvasive biomarker has not been identified. We aimed to determine the utility of blood and urine eosinophil-associated proteins to identify EoE diagnosis and predict esophageal eosinophilia. Methods: Blood and urine were collected from children undergoing endoscopy with biopsy. Absolute eosinophil count (AEC), plasma eosinophil-derived neurotoxin (EDN), eosinophil cationic protein (ECP), major basic protein-1 (MBP-1), galectin-10 (CLC/GAL-10), Eotaxin-2 and Eotaxin-3, and urine osteopontin (OPN) and matrix metalloproteinase-9 (MMP-9) were determined. Differences were assessed between EoE and control, and with treatment response. The capacity to predict EoE diagnosis and esophageal eosinophil counts was assessed. Results: 183 specimens were collected from 56 EoE patients and 15 non-EoE patient controls; 33 EoE patients had paired pre- and post-treatment specimens. Plasma (CLC/GAL-10, ECP, EDN, Eotaxin-3, MBP-1) and urine (OPN) biomarkers were increased in EoE compared to control. A panel comprising CLC/GAL-10, Eotaxin-3, ECP, EDN, MBP-1, and AEC was superior to AEC alone in distinguishing EoE from control. AEC, CLC/GAL-10, ECP, and MBP-1 were significantly decreased in patients with a good response to treatment compared to patients with a poor response. AEC, CLC/GAL-10, ECP, EDN, OPN, and MBP-1 each predicted esophageal eosinophil counts utilizing mixed models controlled for age, gender, treatment and atopy; AEC combined with MBP-1 best predicted the counts. Conclusions: We identified novel panels of eosinophil-associated proteins that along with AEC are superior to AEC alone in distinguishing EoE from control and predicting esophageal eosinophil counts.

Objective: The primary immunodeficiency syndromes of cytotoxic T lymphocyte-associated protein 4 (CTLA-4) haploinsufficiency and lipopolysaccharide-responsive and beige-like anchor protein (LRBA) deficiency present with multisystem immune dysregulation. The aim of this study was to characterize and compare the pulmonary manifestations of these two diseases. Methods: We retrospectively analyzed the pulmonary clinical, radiologic, and histopathologic characteristics of 6 patients with CTLA-4 haploinsufficiency and 4 patients with LRBA deficiency with pulmonary involvement followed at a large tertiary care center. Results: Chronic respiratory symptoms were more frequent in patients with LRBA deficiency versus CTLA-4 haploinsufficiency (4/4 versus 1/6). Cough was the most common respiratory symptom. Abnormalities in pulmonary exam and pulmonary function testing were more frequent in LRBA deficiency (4/4, 2/4) compared to CTLA-4 haploinsufficiency (1/6, 2/6). Chest CT findings included mediastinal lymphadenopathy (4/4 in LRBA deficiency versus 1/4 in CTLA-4 haploinsufficiency), pulmonary nodules (4/4, 3/4), ground-glass opacification (4/4, 3/4), and bronchiectasis (3/4, 1/4). Lymphocytic inflammation, concentrated bronchovasculocentrically and paraseptally, was observed in all patients who had lung biopsies (N=3 with LRBA deficiency; N=3 with CTLA-4 haploinsufficiency). Granulomas were seen in all patients with CTLA-4 haploinsufficiency and in no patients with LRBA deficiency. Conclusion: Despite phenotypic overlap amongst these diseases, LRBA deficiency demonstrated greater severity of pulmonary disease, indicated by respiratory symptoms, pulmonary exam, and intrathoracic radiologic findings. Lymphocytic inflammation is a key histologic feature of both of these disorders. Pediatric pulmonologists should suspect these disorders in the appropriate clinical, radiological, and pathological context to better diagnose and treat these patients.

Background Little attention has been given to the long-term respiratory outcomes of children with gastroschisis. The purpose of this study was to determine if gastroschisis survivors have more respiratory illnesses in their first 10 years-of-life compared to age-matched controls. Methods We performed a retrospective cohort study of all gastroschisis children born in Manitoba between 1991-2017. Gastroschisis cases were identified from a clinical database, and a date-of-birth matched control cohort was constructed from a population-based data repository. International Classification of Disease codes were used to compare the risk and frequency of respiratory diagnoses for children with gastroschisis to date-of-birth matched controls from 0-5 years-of-age and 5-10 years-of-age. Results The 0-5 years-of-age analysis included 117 gastroschisis cases and 1205 date-of-birth matched controls; children with gastroschisis had a higher risk of asthma (RR=1.46, 95%CI:1.03,2.55, p=0.029), acute bronchitis/bronchiolitis (RR=1.61, 95%CI:1.27,2.03, p<0.001), pneumonia (RR=1.99, 95%CI:1.45,2.72, p<0.001), viral pneumonia (RR=5.15, 95%CI:1.79,14.81, p=0.007), and pneumonia due to unspecified organism (RR=2.06, 95%CI:1.45,2.92, p<0.001). Gastroschisis children 0-5 years-of-age were also diagnosed more frequently with bronchitis/bronchiolitis (RR=2.14, 95%CI:1.79,2.57, p<0.001) and viral pneumonia (RR=8.10, 95%CI:3.79,17.31, p<0.001). The 5-10 years-of-age analysis included 73 cases and 738 controls; no difference in the risk of respiratory illness was found for gastroschisis cases and controls in this age group. However, gastroschisis cases were more frequently diagnosed with bacterial pneumonia (RR=3.03, 95%CI:1.67,5.51, p<0.001) and influenza (RR=3.03, 95%CI:1.67,5.51, p<0.001). Conclusion Our study shows that children with gastroschisis have an increased risk of asthma and respiratory infections compared to children without gastroschisis, especially in the first 5 years-of-life.

ABSTRACT Background: The goal of this study was to identify clinical features associated with abnormal infant pulmonary function tests (iPFTs), specifically functional residual capacity (FRC), in infants with cystic fibrosis (CF) diagnosed via newborn screen (NBS). We hypothesized that poor nutritional status in the first 6-12 months would be associated with increased FRC at 12-24 months. Methods: This study utilized a combination of retrospectively and prospectively collected data from ongoing research studies and iPFTs performed for clinical indications. Demographic and clinical features were obtained from the electronic medical record. Forced expiratory flows and volumes were obtained using the raised volume rapid thoracoabdominal technique (RVRTC) and FRC was measured via plethysmography. Results: A total of 45 CF NBS infants had iPFTs performed between 12-24 months. Mean forced vital capacity, forced expiratory volume in 0.5 second, and forced expiratory flows were all within normal limits. In contrast, the mean FRC z-score was 2.18 (95%CI=1.48, 2.88) and the mean respiratory rate (RR) z-score was 1.42 (95%CI=0.95, 1.89). There was no significant association between poor nutritional status and abnormal lung function. However, there was a significant association between higher RR and increased FRC, and a RR cutoff of 36 breaths/min resulted in 92% sensitivity to detect hyperinflation with 32% specificity. Conclusions: These results suggest that FRC is a more sensitive measure of early CF lung disease than RVRTC measurements and that RR may be a simple, non-invasive clinical marker to identify CF NBS infants with hyperinflation.

The diagnosis of decompression sickness (DCS) is mostly based on clinical suspicion, and there is currently no available modality to fully confirm the diagnosis. However, the use of echocardiography in suspected DCS cases has become more common. In this case, transthoracic echocardiography (TTE) was used to detect microbubbles in the right cardiac chambers and monitor the patient after hyperbaric oxygen therapy (HBOT), suggesting the possible applicability of TTE in diagnosing and monitoring DCS patients. This report describes a 54-year-old Fisherman who was referred to the emergency department with dyspnea and mild confusion after a rapid ascent of a saturation dive at 50 m sea depth. After the initial evaluation, he was assessed using TTE to exclude the presence of structural heart disease, where it surprisingly showed spontaneous echo contrast inside the right cardiac chambers similar to agitated saline echo testing. The patient was then admitted for HBOT and follow-up; rapid improvement was noticed after the first HBOT session and the TTE findings were fully resolved. TTE could be considered in the initial workup when DCS is suspected, and it might have a role in monitoring DCS patients if echocardiographic findings of bubble formation were documented in the pre-hyperbaric therapy settings.

Abstract Purpose: To compare the functional outcomes of patients who underwent partial (PN) or radical nephrectomy (RN) for clinical T1 (cT1) renal tumors using the Kidney Cancer Database of the Urooncology Association, Turkey. Methods: We retrospectively reviewed 1004 patients who underwent PN and RN for cT1 renal tumors at multiple academic tertiary centers between 2000 and 2018. Patients with preoperative end-stage chronic kidney disease and/or metastatic disease were excluded. Results: There were 452 patients in the PN group and 552 patients in the RN group. The eGFR was significantly reduced in both groups on postoperative day one (PN=13.7 vs. RN=19.1 ml/min/1.73 m2: p<0.001). In the PN group, eGFR showed a tendency to recover according to a quadratic pattern and reached preoperative levels in the first and third years (95.6±28.8 ml/min/1.73 m2 and 96.9±28.9 ml/min/1.73 m2, respectively), with no significant difference between the eGFRs in the 1st and 3rd years (p=0.710). To define groups at risk, different cut-off values for the GFR were considered. Among patients with a baseline GFR<90, the RN cohort had significantly lower eGFRs in the first and third years than the PN cohort (p=0.02). Logistic regression showed that comorbidities, coronary artery disease, diabetes and hypertension had no adverse impacts on the changes in the eGFR (p=0.60, p=0.13, and p=0.13, respectively). Conclusion: For the treatment of stage T1 kidney tumors, the first choice should be open or laparoscopic partial nephrectomy due to the superior long-term preservation of renal function and overall survival, regardless of age and comorbidities.

The coronavirus disease 19 (COVID-19) pandemic has resulted in widespread economic, health and social disruptions. The delivery of cardiovascular care has been stifled during the pandemic in order to adhere to infection control measures as a way of protecting patients and the workforce at large. This cautious approach has been protective since individuals with COVID-19 and cardiovascular disease are anticipated to have poorer outcomes and an increased risk of death. The combination of postponing elective cardiovascular surgeries, reduced acute care and long-term cardiac damage directly resulting from COVID-19 will likely have increased the demand for cardiac care, particularly from patients presenting with more severe symptoms. The combination of increased demand and inhibited supply will likely result in huge backlog of unmet patients’ needs. The novelty, virulence and infectivity of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has caused substantial morbidity and mortality which have necessitated modifications to the UK government’s healthcare strategy. Without improving cost efficiency, the UK’s ageing population will likely need an increasing spend on cardiac surgery simply to maintain the same level of service. However, the government’s short-term increase in spending is unsustainable especially in the face of ongoing economic uncertainty. This means that the long-term impact of COVID-19 will only increase the need to find innovative ways of delivering equivalent or superior cardiac care at a reduced unit cost.

Trees’ total amount of nonstructural carbohydrate (NSC) stores and the proportion of these stores residing as insoluble starch are vital traits for individuals living in variable environments. However, our understanding of how stores vary in response to environmental stress is poorly understood as the genetic component of storage is rarely accounted for in studies. Here, we quantified variation in NSC traits in branch samples taken from over 600 clonally transplanted black cottonwood (Populus trichocarpa) trees grown in two common gardens. We found heritable variation in both total NSC stores and the proportion of stores in starch (H2TNC = 0.19, H2PropStarch = 0.31), indicating a substantial genetic component of variation. In addition, we found high amounts of plasticity in both traits in response to cold temperatures and significant genotype-by-environment (GxE) interactions in the total amount of NSC stored (54% of P is GxE). This finding of high GxE indicates extensive variation across trees in their response to environment, which may explain why previous studies of carbohydrate stores’ responses to stress have failed to converge on a consistent pattern. Overall, we found high amounts of environmental and genetic variation in NSC storage concentrations, which may bolster species against future climate change.