Previously, little is known about the relationship between the PIK3R1 mutation status and the resistance to HER2-targeted therapies. Herein, we report a HER2-positive breast cancer patient with PIK3R1EY451delinsD showed resistance to HER2-targeted therapy, and adding everolimus to the treatment of trastuzumab and carboplatin achieved better effect.

Transient Atrial-His Block during Wide QRS-Complex Tachycardia with 1:1 Ventriculoatrial Relationship: What is the Diagnosis?

Dealing with RV-oversensing; separate sensitivity settings for brady and tachy sensingPranav Bhagirath MD PhD1, Kyle Beunder BSc1, Vokko van Halm MD PhD11Department of Cardiology, Amsterdam University Medical Center, Amsterdam, the NetherlandsFunding: (None)Disclosures: (None)

In this study, the Interannual variability (IAV) of Indian Summer Monsoon (ISM) is investigated using multi-year (1982‒2016) seasonal scale simulations (May‒September) of the regional climate model RegCM4 developed by International Center for Theoretical Physics, Italy. Model simulated fields such as surface temperature, wind and rainfall are validated initially to testify the climatological behaviour of ISM. Subsequently, different aspects of IAV associated with ISM are discussed primarily focusing on model simulated rainfall and are verified against high resolution rainfall analysis from India Meteorological Department (IMD). Empirical Orthogonal Function (EOF) analysis technique is also applied to identify the leading modes of IAV. Analysis indicated that RegCM4 shows reasonable accuracy in simulating major large scale features, however, has cold bias over entire India and wet (dry) bias over northwest and peninsular (central) India. Easterly (westerly) bias is noticed in the model simulated low (upper) level wind that affects regional Hadley circulation. The model bias is found to be associated with the feedback cycle of land-atmosphere interaction. Surface evaporative cooling likely affects the instability in the atmospheric column, thereby limiting the convection and thus reducing rainfall. While categorizing, it is noticed that the deficit, normal and excess rainfall years in the model simulation agrees well with the IMD observation for about half of the study period, however, the normal years are relatively better reproduced by the model than the extreme years (deficit and excess). EOF analysis revealed that first two leading modes of IMD rainfall are linked with large scale variabilities viz., El-Nino southern oscillation and Indian ocean dipole respectively but RegCM4 could not well reproduce these relationships. Eventhough, the model showed spectral peaks for 2‒7 years periodicity, these peaks are very close to the red noise spectrum due to their weak power which indicated the model’s limitation in capturing large scale variability. Overall, this study suggests that the RegCM4 could capture the climatological features of ISM fairly well, but needs further improvement in representing the IAV more accurately.Note: This manuscript is published in  Theoretical and Applied Climatology. https://doi.org/10.1007/s00704-022-03961-5

Background: Vascular TRPV channels have emerged as important regulators of vascular tone. TRPV1 and endothelin-1 (ET-1) are independently associated with the pathophysiology of coronary vasospasm but the relationship between their vasomotor functions remains unclear. We characterized the vasomotor function of TRPV1 channels in human arterioles and investigated regulation of their vasomotor function by ET-1. Approach: Arterioles were threaded on two metal wires, equilibrated in a physiological buffer at 37 oC and exposed to increasing concentrations of capsaicin in the absence or presence of SB366791 (TRPV1-selective inhibitor) or GF109203X (PKC-selective inhibitor). Some arterioles were preconstricted with ET-1 or phenylephrine or high K+ buffer. TRPV1 mRNA and protein expression in human arteries were assessed. Results: TRPV1 transcripts and proteins were detected in human resistance arteries. Capsaicin (1 µM) induced concentration-dependent constriction of endothelium-intact (35 ± 8 %) and endothelium-denuded (43 ± 11 %) human adipose arterioles (HAA), which was significantly inhibited by SB366791 (0.2 ± 0.1 %). Preconstriction of HAA with ET-1, but not high potassium buffer or phenylephrine, significantly potentiated capsaicin-induced constriction (33 ± 7 % vs 12 ± 8 %). GF109203X significantly inhibited potentiation of capsaicin-induced constriction by ET-1. Conclusion: TRPV1 channels are expressed in the human vasculature and can influence vascular tone of human arterioles upon activation. Their vasomotor function is modulated by ET-1, mediated in part by PKC.. These findings reveal a novel interplay between ET-1 signaling and TRPV1 channels in human VSMC, adding to our understanding of the ion channel mechanisms that regulate human arteriolar tone and may also contribute to the pathophysiology of coronary vasospasm.

Objective To assess the impact of severe recalled labour pain from the previous birth on the preference and delivery of an elective cesarean section (CS) in the subsequent delivery. Design A population-based, longitudinal study. Setting Akershus University Hospital, Norway. Population In total, 1,244 parous women recruited during routine fetal ultrasound examination at the 17th week of pregnancy between November 2008 and April 2010 were included. Methods Logistic regression analyses were conducted with data gathered from two questionnaires at 17th and 32nd week of pregnancy and electronic birth records. Main Outcome Measures Preference of an elective CS and actual delivery by elective CS. Results Recalled severe labour pain at the previous birth was associated with a preference of an elective CS (crude OR 2.11, 95% CI 1.43-3.12) and actual delivery by elective CS (crude OR 1.70, 95% CI 1.04-2.77). This association remained statistically significant for both preference of (adjusted OR 1.75, 95% CI 1.10-2.77) and delivery by elective CS (adjusted OR 1.95, 95% CI 1.03-3.66) when adjusting for years passed since previous birth, birth method, epidural anesthesia, overall birth experience, and fear of childbirth. Conclusions Women with severe recalled labour pain were about twice as likely to prefer or deliver by elective CS as women without severe recalled pain. Irrespective of severe recalled labour pain, preference for elective CS was statistically significantly associated with actual delivery by elective CS. Funding Research Council of Norway (project number 191098) Keywords Elective cesarean section, recalled labour pain, preference, delivery, previous birth experience

Novel coronavirus disease (COVID-19) become one of the most important global health issues. With increasing the number of COVID-19 patients, the possibility of occurring re-infection in recovered patients is arising. There is still not proven that the recuperated COVID-19 patients are immunized against the SARS-CoV-2. Herein, we reported a case of COVID-19 who was previously infected with the gastrointestinal form of the disease. The patient was infected again after 97 days of the initial GI symptoms of the disease or 82 days of the post negative test. RT-PCR was also positive in the virus detection. This is the first report of COVID-19 patient with the longest period of time of re-infection which has been reported yet.

Aquatic environmental DNA (eDNA) surveys have emerged as an alternative method for monitoring complex and vast marine ecosystems. One-to-one comparisons between existing survey techniques and eDNA approaches are essential to determine biases associated with this novel methodology. To date, such direct comparative studies have been scarce in the context of marine eDNA surveys. In this study, we conducted simultaneous baited remote underwater video (BRUV) and eDNA surveys to describe the fish community in Paterson Inlet, Stewart Island/Rakiura, New Zealand. BRUV detected three distinct families of bony fish (Actinopterygii) and four families of cartilaginous fish (Chondrichthyes). Three different eDNA assays, detected 32 (MiFish-U), 42 (MiFish-E), and 23 (16S-Fish) families, spanning the classes of Actinopterygii, Chondrichthyes, Hyperoartia, Mammalia, and Aves. Our direct comparison identified the need for (i) increased sampling, (ii) spatial pooling, and (iii) multiple targeted eDNA assays, to achieve similar detection rates of a given species in eDNA and BRUV monitoring. Diversity, ordination, and indicator species analyses identified distinct eDNA signals between different habitats in our relatively small sampling area, showcasing the high spatial resolution of eDNA approaches in marine habitats. Our results provide valuable insights into the potential biases associated with eDNA monitoring, as well as highlight the power of eDNA for detecting a broad range of taxa beyond traditional observational approaches, including terrestrial, invasive and migratory organisms.

Natural fallow practice has been identified as an effective way to overcome obstacles of continuous cropping. However, how the resulting soil microbial changes impact plant fitness, and how the context-specific differences diverge from those caused by continuous cropping remain largely unknown. This study used the third-year continuous tobacco cropping soil (CCS) and natural fallow soil (FS) to cultivate Nicotiana tabacum. The influences of soil microorganisms on the fitness of N. tabacum were assessed by reassembling soil microbial communities. Then, the bacterial and fungal community assembly of the bulk soil and the rhizosphere were characterized using amplicon sequencing and statistical analysis. The results indicated that soil microorganisms play more important roles for plant fitness for N. tabacum grown in FS compared with CCS. Moreover, the abiotic context of FS exerts stronger effects compared with those of CCS for the reassembly of soil microbiomes. Comparative analysis identified the context-specific microbial clades and the differential strength of rhizosphere effects. In conclusion, this paper provides context-specific microbial evidence, which may unravel the potential mechanism underlying the different response of N. tabacum to changes of soil microbiomes induced by natural fallow and continuous cropping practices.

Anthropogenic impacts from the construction and operation of high-voltage transmission lines on a land in a right-of-way (ROW) result in soil cover disturbances varying in scale, age and origin. This affects soil diversity. We found that the distribution of disturbed soil areas follows a power distribution. The following main types of anthropogenic soils were identified within the ROW: filled soil, slightly disturbed resectozem, moderately disturbed resectozem 2 and abrazem. The areas of disturbed soils are superimposed on the natural heterogeneity of the remaining forest soils. We found that soil diversity within a ROW consists of 2.2% filled soils, 3.9% resectozem 1, 11% resectozem 2 and 10.4% abrazems. The total area of anthropogenically changed soils is 27.5% of the entire study area. Soil degradation causes resectozem 2 and abrazem. An increase in a surface slope angle till 2°–4о results in the growth of moderately degraded areas, whereas, an increase of more than 10о leads to highly degraded areas. The degree of soil cover degradation in the ROW is 3 out of 5. Comparison of disturbed areas based on the types of anthropogenic soils revealing significant differences between resectozems 2 and abrazems. The form factor of disturbances occurring during construction has a modal value of 0.8–0.9, whereas, that during operation is 0.7–0.8. Currently, the soil cover contains accumulated traces of degradation. Thus, the cumulative potential for soil degradation accumulated over the past 60 years of intensive economic development must be considered.

Seeds of Lithospermum officinale L. from different climatic zones were analyzed looking for new sources γ-linolenic acid (GLA, 18:3n-6) and stearidonic acid (SDA, 18:4n-3). Cultured B. officinalis was also analyzed with comparative purposes. Analyses were conducted for fatty acid (FA) profiles in the whole seeds and in the neutral and polar lipids by GC; lipid classes by open column chromatography and preparative TLC; and tocopherols, sterols and phenolic compounds by HPLC-DAD, and the later compounds were confirmed by LC-MS. The richest GLA sample was L. officinale from St. Petersburg Botanical Garden (17.9% of total FA), while wild-growing L. officinale from the Rostov region showed the highest percentage of SDA (17.2% of total FA). Total FA content ranged from 11.3 to 20.8% of seed weight. Neutral and polar lipids accounted for ~98 and 2.27% of total lipids. Five neutral lipid classes were identified (% of NL): triterpene esters, 1.3; triacylglycerols, 93.1; free FA, 1.8; diacylglycerols, 1.4; and monoacylglycerols, 2.4. Tocopherols and sterols reached 35.7 and 83.8 mg/100 g seeds; γ-tocopherol was the main tocopherol detected, and Δ5-avenasterol was the predominant sterol. L. officinale seeds contain high amounts of phenolic compounds (389.9 mg/100 g as upper limit), in which rosmarinic acid was the main component. Overall, all data suggest the possibility of using L. officinale seed oil in pharmaceutical and cosmetic formulae and as functional food.

Rhinitis is one of the most prevalent diseases in the world. Indoor microbiome is confirmed to associate with respiratory diseases such as asthma and infections, but no study reported the association between indoor microbiome and the occurrence of rhinitis. In this study, 370 students were randomly selected from 8 junior schools in Terengganu, Malaysia, and self-administered questionnaire and skin prick tests were conducted to define the allergic and non-allergic rhinitis among students. Vacuum dust was collected from the floor and chair/desk surfaces in the classrooms, and culture-independent high-resolution amplicon sequencing and quantitative PCR were conducted to characterize the absolute concentration of bacterial and fungal species. Hierarchical logistic regression was applied in the association analyses. We found similar microbial associations for the students with allergic and non-allergic rhinitis. The microbial richness in Gammaproteobacteria was protectively associated with allergic and non-allergic rhinitis (p = 0.02 and 0.04), and total fungal richness was positively associated with allergic and non-allergic rhinitis (p = 0.01 and 0.03). The absolute concentration of two bacterial species, Aeromonas enteropelogenes and Brasilonema bromeliae, were associated with both types of rhinitis, and six bacterial and one fungal species was associated with either allergic and non-allergic rhinitis (p < 0.005). Four species previously reported as facultative pathogens, including A. enteropelogenes, Escherichia fergusonii, Enterobacter xiangfangensis and Streptococcus salivarius, were protectively (negatively) associated with rhinitis. A higher concentration of two radiation-resistant species, including Deinococcus gobiensis and Deinococcus grandis, were associated with an increased odds of rhinitis.

Association between asthma and clinical mortality/morbidity in COVID-19 patients using clinical epidemiologic data from Korean Disease Control & PreventionHyo-Geun Choi1, Jee Hye Wee2, So Young Kim2, Joo-Hee Kim3, Hwan Il Kim3, Ji-Young Park3, Sunghoon Park3, Yong Il Hwang3, Seung Hun Jang3, and Ki-Suck Jung31 Departments of Otorhinolaryngology-Head & Neck Surgery, Hallym UniversitySacred Heart Hospital, Hallym University College of Medicine, Anyang, Korea2 Department of Otorhinolaryngology-Head & Neck Surgery, CHA Bundang Medical Center, CHA University, Seongnam, Korea3 Division of Pulmonary, Allergy, and Critical Care Medicine, Department ofMedicine, Hallym University Sacred Heart Hospital, Hallym University Collegeof Medicine, Anyang, Korea

The element model of the viscoelastic constitutive model has its significant advantage in describing the three stages of rheological curve. Through the medium of the k-Hilfer-Prabhakar fractional derivative, our primary intension in this paper is to establish a viscoelastic constitutive model coupling with the nonlinear time varying elastic element E(t). The k-Hilfer-Prabhakar fractional derivative is characterized by the recovery between the modified model and the known classical models of linear viscoelasticity. According to the theory of the Laplace transform and Boltzmann superposition principle, the strain of the proposed model is obtained. In summing up it may be stated that the analysis of parameter identification indicates the validity and rationality of the modified model.

The occurrence of biocrusts and its disturbance alters infiltration in the Mu Us Desert. Knowledge of the hydrological properties of biocrusts and estimation of soil hydraulic parameters are crucial to improve simulation of infiltration and soil water dynamics in vegetation-soil-water models. Infiltration experiment was conducted to evaluate the effects of biocrust development and its disturbance on soil infiltrability in Mu Us Desert, northwest of China. A combined Wooding inverse approach was used for the estimation of soil hydraulic parameters. The results showed that both lichen- and moss-covered biocrusts had a negative influence on infiltration in comparison with the bare soil. Moreover, moss-covered biocrusts had much lower soil infiltrability compared to the lichen-covered biocrusts. Biocrust disturbance alters infiltration, but its effect differs depending on the biocrust and disturbance types. For high pressure heads, water retention on the moss-covered soils was higher than on the lichen-covered soils. Moreover, trampling caused a higher water retention at high pressure heads. However, opposite was observed at low pressure heads. In addition, moss-covered soils had lower hydraulic conductivity than the lichen-covered soils. Additionally, for each biocrust-covered soil, both trampling and scraping resulted in a higher hydraulic conductivity when compared with the undisturbed soils. The occurrence of biocrusts and its disturbance influenced van Genuchten parameters, and subsequently affected the water retention curve, and thus altered the plant-available water. The findings about the parameterization of soil hydraulic properties have important implications for the simulation of eco-hydrological processes in arid and semiarid ecosystems.

Objective: To study the safety and pharmacokinetic (PK) profile of S-oxiracetam (S-ORT) in healthy volunteers, so as to provide a safe and reasonable basis for the application of formulation in phase II clinical programs. Methods: In part 1, subjects were intravenously administered single-ascending dose (2.0-8.0g) S-ORT. In part 2, subjects were treated by two-sequence, two-period crossover design. In part 3, subjects were intravenously injected with 4.0 g S-ORT once a day for 7 days. The biological samples were collected to evaluate the PK parameters and urine excretion rate. The safety profile of the drug was also evaluated throughout the test process. Results: Only 1 subject displayed a mild AE (adverse event) without obvious dosage-related AE, and SAE (serious adverse event). Within the range of 2.0-8.0 g for a single dose, Cmax, AUC0-t, and AUC0-∞ increased with an increase of dosage. The urine excretion rate of the prototype drug was approximately 60%. The consecutive administration of drug could not cause a substantial accumulation of S-ORT. The plasma drug concentration-time curves for both S-ORT and R-oxiracetam (R-ORT) were found to be almost identical. Conclusions: The safety, tolerance and PK characteristics of S-ORT in the healthy volunteers within a range of 2.0-8.0 g for a single dose, or with 4.0 g for 7 consecutive days were found to be acceptable. The pharmacokinetics of S-ORT and racemic oxiracetam (ORT) were observed to be basically the same. The injection of S-ORT can be used at once-a-day dosing regimen for Phase II clinical studies.

Nitrous oxide is an increasingly popular recreational drug. However recurrent or prolonged use can be associated with nitrous oxide toxicity, with numerous reports of harm documented in the literature. Nitrous oxide irreversibly binds and inactivates vitamin B12, which is an important co-factor in metabolic pathways involved in DNA and myelin synthesis. Toxicity is therefore associated with vitamin B12 deficiency-related syndromes, primarily involving haematological and neurological systems. As a ‘legal high’, nitrous oxide use has attracted repeated health warnings from experts. An awareness and understanding of the pathophysiology and management of nitrous oxide toxicity is therefore important for clinicians. We discuss the case of a 29-year old man presenting with nitrous oxide-induced sensorimotor neuropathy and review the existing literature surrounding toxicity.

This work presents an energy optimization study in a distillation and dehydration unit of a conventional ethanol producing biorefinery, based on the Pinch method. This proposal resulted in savings of 69.2% in operational costs with utilities, just with energy integration, turning the process significantly cheaper.

Objectives: In this study, we aimed to compare the ABR’s (Auditory Brainstem Response) estimated behavioral thresholds, wave V latencies, and amplitudes, obtained using Tone Burst and Narrow Band (NB) CE-Chirp stimuli in adults with normal hearing. Design: A prospective study was designed. Setting: Otorhinolaryngology and Audiology Clinic of the tertiary university. Participants: Twenty-four adults with normal hearing (17 males, 7 females) participated in this study. Main outcome measures: ABR was recorded using Narrow Band (NB) CE-Chirp and Tone Burst (TB) for four frequencies (0.5, 1, 2, 4 kHz). Wave V obtained for 60, 40, and 20 dB nHL intensity levels for both two procedures. Behavioral hearing thresholds (BHT) were identified at 0.5, 1, 2, 4 kHz. Duration of TB and NB CE Chirp ABR tests for each ear was recorded. Wave V latencies, amplitudes, BHTs, duration of tests were compared. Results: The thresholds obtained from NB CE-Chirp stimulus (20, 19, 16, 15 dB nHL) at 0.5, 1, 2 and 4 kHz were significantly closer to the behavioral hearing thresholds (11, 10, 9, 9 dB HL) compared to Tone Burst ABR thresholds (25, 23, 20, 19 dB nHL) (at all frequencies p < 0.001, CI = 2.0- 5.9). The absolute latencies of peak V with TB stimuli were significantly longer than latencies obtained with NB CE Chirp stimuli at 0.5, 1, and 2 kHz at all sound intensity levels (p<0.001). The mean test time for NB CE-Chirp ABR was 23.6 ± 3.9 minutes and significantly shorter than the TB ABR test time (28.2 ± 4.5), (p=0.011). Conclusion: Frequency-specific behavioral thresholds are estimated better with NB CE-Chirp than TB ABR.

Objectives: This study aims to investigate the value of Video head impulse test (vHIT) findings in peripheral vertigo diseases, especially in Benign paroxysmal positional vertigo (BPPV) in the acute period. Design: A prospective study was designed. Setting: Otorhinolaryngology and Audiology Clinic of the tertiary university , October 2017-September 2018. Participants: Patients diagnosed with peripheral vertigo included prospectively and consecutively in the study. Main outcome measures: Demographic characteristics of the patients and pathological SCC detected by examination and diagnostic maneuver for BPPV patients were recorded. Vestibulo-ocular reflex (VOR) gain was calculated in all patients and all six SCCs. Two sub-study groups were formed according to age (<50 or >50). Also VOR gain detected for BPPV, Vestibular neuritis (VN), and Meniere’s disease (MD). Results: 74 (82.2%) of the patients were Benign paroxysmal positional vertigo (BPPV), eight (8.9%) of patients were vestibular neuritis (VN), and eight (8.9 %) of them were Meniere’s disease (MD). Pathological deficiency of VOR for SCCs was detected in 49 of 74 (66.2%) patients with BPPV, all eight patients with VN (100%), and four of eight patients with Meniere’s disease (50%). The sensitivity and specificity calculated as 55.4% and 81.2% for BPPV patients. Conclusions: vHIT is a new protocol and provides objective findings for SCC functions in patients with peripheral vertigo. vHIT can be performed faster and easier than the caloric stimulation test for VN diagnosis with comparable results. However, vHIT does not provide sufficient results for BPPV to distinguish from other peripheral vestibular system diseases.

Background: Childhood acute lymphoblastic leukemia (ALL) is the most common pediatric cancer worldwide. Although children in high-income countries enjoy survival rates of approximately 90%, children in countries with limited resources suffer from survival rates of less than 35%. No published data on pediatric cancer incidence, management, or outcomes in the Gaza Strip are available. Methods: A retrospective cohort study was undertaken for pediatric ALL diagnoses admitted to the only pediatric cancer ward in the Gaza Strip between 2010 and 2015. Outcomes included Event-free survival (EFS) and overall survival (OS) calculated by Kaplan–Meier estimates. Events were defined as induction failure, relapse, and death. Results: The 3-year EFS estimate was 80% (95% confidence interval [CI], 66%–89%) (Figure 1). The EFS at 1 and 3 years for high-risk ALL was 55% (95% CI, 27%–76%) and 23% (95% CI, 4%–51%), respectively (Figure 1). The 3-year OS was 93% (95% CI, 82%–97%) (Figure 2). The 3-year OS for high-risk ALL was 69% (95% CI, 30%–90%). All 84 (100%) patients required referral to an OSH for definitive ALL diagnoses and induction therapy. Forty-four (52%) patients required at least one additional referral. Conclusions: The overall outcomes demonstrated relatively high survival rates at 3 years which may be artificially elevated due to exclusion of adolescents, limited follow up, and deceased patient charts unavailable. Structural determinants of health in Gaza lead to limited diagnostic and treatment capabilities, advanced medical training, and reliance on out-of-territory transfers for care. These barriers impact the access to comprehensive pediatric care in Gaza.

Background: Childhood acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy. The onset of obesity during childhood ALL has been well established and is associated with inferior survival rates and increased treatment-related toxicities. This pilot study sought to determine if a dietary intervention is feasible and minimizes weight gain during the initial phases of treatment for ALL. Methods: Participants were recruited from four institutions, fluent in English or Spanish, between 5-21 years old, and enrolled within three days of starting induction therapy. Participants were counseled for six months to follow a low glycemic diet. Dietary and anthropometric data were collected at baseline, end of induction, and end of month six (NCT03157323). Results: Twenty-three of 28 participants (82.1%) were evaluable and included in the analysis. Dietary intake of several nutrients targeted by the nutrition intervention declined (sugar, P = 0.003 and glycemic load, P = 0.053). We also observed a persistent increase in total vegetables across each timepoint (P = 0.015) and by the end of the intervention (P = 0.033). Importantly, we did not observe an increase in body mass index z-score during induction or over the six-month intervention period. Most families found the nutrition intervention easy to follow (60%) and affordable (95%) despite simultaneous initiation of treatment for ALL. Conclusions: A six-month nutrition intervention initiated during the initial phase of treatment for childhood ALL is feasible and may prevent weight gain. Our preliminary findings need to be confirmed in a larger clinical trial.

Purpose:Nuclear pore complexes are a large group of proteins responsible for molecular passages between the cytoplasm and the nucleus. We aimed to investigate the status of POM121 gene expression, which is one of the nuclear pore proteins in childhood acute leukemias, compared with the normal population, and its relationship with prognosis and other clinical findings. Methods:Fifty-nine patients with ALL and 21 patients with AML, followed up and treated between January 2008 and November 2013, and 36 control subjects were included in the study. A real-time PCR method was used to detect POM121 gene expressions. Results:The mean value of POM121 expression was 3.75±2.91 in ALL patients, 5.79±7.04 in AML patients, and 3.32±3.76 in the control group. POM121 expression was markedly higher in AML patients, but there was no statistically significant difference compared with the control group and ALL patients. Overall survival (OS) results were better in patients with lower POM121 expression than the mean of the control group among ALL and AML patients. However, the results were not statistically significant. Among ALL patients, patients with a higher POM121 expression than the mean of the control group, patients who had relapse and central nervous system involvement, patients who were in the standard risk group and without thrombocytopenia had statistically significantly lower OS results in the 3rd and 10th years. Conclusions:This is the first study in the literature to show the relationship between POM121 expression and prognosis in childhood leukemias, and this will be clarified further with more comprehensive studies.

Shwachman–Diamond syndrome with Shwachman–Bodian–Diamond syndrome (SBDS) biallelic variants is a rare disorder that predisposes the carrier to malignant hemopathies but solid-cancer predisposition is poorly known. Among 155 cases entered in the French Severe Chronic Neutropenia Registry, three were identified original with malignant solid tumors (ovary, breast and esophagus). All cancers occurred in the fifth decade and, despite being at localized stages at diagnosis, they were rapidly fatal thereafter. No cancer was observed in the 14 HSCT survivors post transplantation. Based on our experience and the literature, age >40 years was the only apparent risk factor.