bluuebunny/crossref_metadata_2025 huggingface dataset:
Impact of the use of food ingredients and additives on the estimation of ultra-processed foods and beverages
Authors: Zancheta Ricardo Camila , Duran Ana Clara , Grilo Mariana Fagundes , Rebolledo Natalia , Díaz-Torrente Ximena , Reyes Marcela , Corvalán Camila
Published: January 2023

Introduction

Increasing consumption of ultra-processed foods (UPF), defined by the NOVA classification, has been associated with obesity and other health outcomes. However, some authors have criticized the UPF definition because it is somewhat subjective. Most studies identify UPF using food descriptions; nevertheless, NOVA developers described a list of ingredients, including substances not commonly used for cooking and “cosmetic additives” that could be used to identify UPF. Assessing the impact of the use of different UPF definitions is particularly relevant with respect to children’s diet, because several dietary policies target this age group. Thus, our study compared the frequency of UPF among foods and beverages and their share in the diet of Chilean preschoolers using three different methods of identifying UPF.

Methods

We used cross-sectional 24-h dietary recall data from 962 preschoolers enrolled in the Food and Environment Chilean Cohort (FECHIC) in 2016. All foods and beverages consumed were classified according to NOVA, considering their description (classic method), the presence of ingredients markers of UPF (ingredient marker method), and the presence of markers plus all cosmetic additives (food additive method). We also estimated the caloric share and quintiles of UPF consumption using the three methods. We used kappa coefficients, consistency-of-agreement intra-class correlation (CA-ICC), absolute agreement intra-class correlation (AA-ICC), and weighted kappa coefficients for assessing agreement between methods.

Results

The proportion of UPF products were 65% in the “classic,” 67% in the “ingredient marker,” and 73% in the “food additive” method, and kappa coefficients between methods varied from 0.79 to 0. 91. The caloric share of UPF was 47, 52, and 58% with “classic,” “ingredient marker,” and “food additive” methods, respectively. Consistency-of-agreement was higher than the absolute agreement between the methods (CA-ICC = 0.81; AA-ICC = 0.74). For quintiles of UPF consumption, we found weighted kappa of 0.65 as measure of agreement between “classic” and “ingredient marker,” and 0.51 between “classic” and “food additive” methods.

Conclusion

Searching for all possible markers of UPF in the list of ingredients increased the proportion of food products identified as UPF compared to the classic method. These differences affected the estimated caloric share of UPF in Chilean preschoolers’ diets.
Should the Mediterranean diet be recommended for inflammatory bowel diseases patients? A narrative review
Authors: Ratajczak Alicja Ewa , Festa Stefano , Aratari Annalisa , Papi Claudio , Dobrowolska Agnieszka , Krela-Kaźmierczak Iwona
Published: January 2023

Inflammatory bowel diseases (IBD) are chronic, progressive and relapsing inflammatory disorders of unknown etiology that may cause disability over time. Data from epidemiologic studies indicate that diet may play a role in the risk of developing and the course of IBD. It is known that the group of beneficial bacteria was reduced in the IBD and that the Mediterranean diet (MD)—which is defined as eating habits characterized by high consumption of plant foods, mainly cereals, vegetables, fruit as well as olive oil, and small portions of dairy products, sweets, sugar and meat products—affects gut microbiota, enriching beneficial bacteria, which support gut barrier function and reduce inflammation. Although several studies support different favorable effects of MD on IBD, adherence to MD by IBD patients is generally low, including patients from the Mediterranean Basin. Patients avoid many products which are elements of MD because there cause gastrointestinal symptoms. Patients should be encouraged to have a healthy and well-balanced diet according to individual tolerance of products. A good option seems to be good modified MD, changing hard-to-digest products to easy digest.
Toxic epidermal necrosis associated with afatinib: A case report and literature review
Authors: Yang Wei , Lu Yansong , Wu Ze , Niu Jun
Published: January 2023

Objective

To report a case of afatinib-induced toxic epidermal necrosis (TEN), in a patient with metastatic non-small cell lung cancer (NSCLC) and compare these findings with that of evaluate similarities and differences to other cases reported in the literature.

Methods

With use of the algorithm of drug causality for epidermal necrolysis (ALDEN), the effects of afatinib were evaluated in a NSCLC patient who developed TEN. In addition, previous case reports on this topic were included to provide a review of patients’ clinical characteristics, treatment regimens and therapy outcomes in response to afatinib treatment.

Results

In our case, toxic epidermal necrolysis was observed at five days after afatinib therapy, while other Stevens-Johnson syndrome/toxic epidermal necrolysis responses, as associated with afatinib, did not seem to be induced until a latency period of over thirty days post-afatinib. Treatment with corticosteroids resulted in significant improvements of these clinical symptoms, and eventually to a complete remission.

Conclusion

Afatinib can result in grade four cutaneous adverse effects like SJS/TEN, with an uncertain latency period. The skin lesions which appear during this period of afatinib treatment should be closely monitored.
Hormone receptor-positive, HER2-negative, metastatic breast cancer responded well to abemaciclib and exemestane after palbociclib and fulvestrant failure: A case report and literature review
Authors: Mao Yan , Lv Meng , Wang Yongmei , Cao Weihong , Li Wenfeng
Published: January 2023

There is uncertainty regarding the usefulness of CDK4/6-inhibitor-based therapy for hormone receptor positive (HR+), human epidermal grow factor receptor 2 negative (HER2−), metastatic breast cancer (MBC), when CDK4/6 inhibitor treatment had previously failed. Furthermore, a biomarker for abemaciclib resistance has not been identified. Herein, we reported outcomes for an HR+/HER2− MBC patient diagnosed with multiple myeloma and treated with abemaciclib and exemestane, who had cancer progression after treatment with palbociclib and fulvestrant. Thalidomide was used in conjunction with all treatments. The patient had a good response to abemaciclib and exemestane, with progression-free survival much longer than previously reported. PIK3CA and TP53 mutations were identified after cancer progression following abemaciclib treatment. It is unclear whether thalidomide increased the effectiveness of abemaciclib. Whether benefit can be derived by the use of PI3K inhibitors, after cancer progression, requires further investigation, and this may be best accomplished by the use of next-generation sequencing.
Case report: Identification of a novel HNRNPC::RARG fusion in acute promyelocytic leukemia lacking RARA rearrangement
Authors: Ding Wenjing , Weng Guangyang , Wang Zheng , Guo Yusha , Wang Man , Shen Hongjie , Chen Suning , Du Xin , Wen Lijun
Published: January 2023

Acute promyelocytic leukemia (APL) is a special subtype of acute myeloid leukemia (AML), 95% patients have PML-RARA fusion gene as a result of a reciprocal chromosomal translocation t(15;17)(q22; q21). The retinoic acid receptors (RARs) belong to nuclear hormone receptors which modulate the transcription of DNA elements. RARs have three isoforms: retinoic acid receptor alpha (RARA), retinoic acid receptor beta (RARB) and retinoic acid receptor gamma (RARG). In this study, we describe the experimental results of a case with HNRNPC::RARG gene transcript with morphologic and immunophenotypic features similar to APL, including bone marrow morphology and immunophenotype, which showed poor response to ATO and chemotherapy. Then the patient achieved remission under the combination of BCL-2 inhibitor (Venetoclax) and standard 7 + 3 chemotherapy in second induction chemotherapy. The treatment in this case demonstrated effective response to Venetoclax, which suggested its possible role for the patient with acute promyelocytic-like leukemias (APLL).
Successful treatment of a patient with advanced lung adenocarcinoma (EGFR-T790M and C797S cis) with lazertinib: A case report and literature review
Authors: Fang Yue , Zhang Qiankun , Wang Weimin , Tong Juanjuan , Li Xialin
Published: January 2023

Lazertinib has been shown to treat non-small cell lung cancer (NSCLC) patients with EGFR-T790M, Ex19del, and L858R mutations. However, there are still no studies to prove that lazertinib could be used in patients with EGFR-T790M and C797s cis mutations in NSCLC. We report a case of a patient with advanced lung adenocarcinoma with EGFR-T790M and C797s cis mutations who were treated with lazertinib and achieved satisfactory efficacy without serious side effects. And the scratch assay and colony-forming unit assay were performed using lung adenocarcinoma cells from patients, the results showed that both lazertinib and amivantamab could inhibit the proliferation and migration of lung adenocarcinoma cells to some extent, and the inhibitory effect of lazertinib was better than that of amivantamab (p < 0. 01), while the inhibitory effect of lazertinib combined with amivantamab was not statistically different from that of lazertinib alone(p>0.05). This finding suggests that lazertinib may be an effective treatment option for patients with lung adenocarcinoma presenting with EGFR-T790M and C797s cis mutations.
Incidence of second primary malignancies in women with different stages of breast cancer
Authors: Lin Cheng-Yao , Hsiao Sheng-Yen , Huang Wen-Tsung , Tsao Chao-Jung , Ho Chung-Han , Su Shih-Bin , Guo How-Ran
Published: January 2023

Introduction

Breast cancer (BC) is the most common cancer in women worldwide. Because of the extended survival of patients with BC, the occurrence of second primary malignancies (SPMs) after BC is an important issue.

Methods

We identified female patients with BC in the Breast Cancer Health Database of Taiwan, which includes four cancer registry datasets between 2002 and 2014 from Taiwan Cancer Registry. We compared the incidence of SPM between patients who received chemotherapy and/or radiotherapy with those who did not. Stratified analyses were performed according to the American Joint Committee on Cancer (AJCC) stage. The Cox regression model was used to identify the risk factors for SPM and evaluate their effects.

Results

We enrolled 85,947 eligible patients with BC, and 2,656 (3.09%) patients developed SPM. The median duration of SPM was 2.70 (1.14–5.14) years. Radiotherapy was administered in 40,946 (47.64%) patients, and chemotherapy was administered in 52,120 (60.64%). The most common SPMs were digestive tract cancers (876, 31.89%). The risk factors for SPM included the AJCC stage, chemotherapy, radiotherapy, age, and underlying comorbidities. Neither chemotherapy nor radiotherapy was associated with an increased risk of SPM in any stage. In contrast, after adjusting for other risk factors, patients at stage III/IV who received both therapies had lower risks of SPM compared with those who did not (p = 0.047).

Conclusion

The risk of SPM was different across BC stages. Neither chemotherapy nor radiotherapy was associated with an increased risk of SPM in women with BC.
Conditional survival analysis and real-time prognosis prediction for cervical cancer patients below the age of 65 years
Authors: Meng Xiangdi , Jiang Yingxiao , Chang Xiaolong , Zhang Yan , Guo Yinghua
Published: January 2023

Background

Survival prediction for cervical cancer is usually based on its stage at diagnosis or a multivariate nomogram. However, few studies cared whether long-term survival improved after they survived for several years. Meanwhile, traditional survival analysis could not calculate this dynamic outcome. We aimed to assess the improvement of survival over time using conditional survival (CS) analysis and developed a novel conditional survival nomogram (CS-nomogram) to provide individualized and real-time prognostic information.

Methods

Cervical cancer patients were collected from the Surveillance, Epidemiology, and End Results (SEER) database. The Kaplan–Meier method estimated cancer-specific survival (CSS) and calculated the conditional CSS (C-CSS) at year y+x after giving x years of survival based on the formula C-CSS(y|x) =CSS(y+x)/CSS(x). y indicated the number of years of further survival under the condition that the patient was determined to have survived for x years. The study identified predictors by the least absolute shrinkage and selection operator (LASSO) regression and used multivariate Cox regression to demonstrate these predictors’ effect on CSS and to develop a nomogram. Finally, the CSS possibilities predicted by the nomogram were brought into the C-CSS formula to create the CS-nomogram.

Results

A total of 18,511 patients aged <65 years with cervical cancer from 2004 to 2019 were included in this study. CS analysis revealed that the 15-year CSS increased year by year from the initial 72.6% to 77.8%, 84.5%, 88.8%, 91.5%, 93.5%, 94.8%, 95.7%, 96.4%, 97.3%, 98.0%, 98.5%, 99.1%, and 99.4% (after surviving for 1-13 years, respectively), and found that when survival exceeded 5-6 years, the risk of death from cervical cancer would be less than 5% in 10-15 years. The CS-nomogram constructed using tumor size, lymph node status, distant metastasis status, and histological grade showed strong predictive performance with a concordance index (C-index) of 0.805 and a stable area under the curve (AUC) between 0.795 and 0.816 over 15 years.

Conclusions

CS analysis in this study revealed the gradual improvement of CSS over time in long-term survived cervical cancer patients. We applied CS to the nomogram and developed a CS-nomogram successfully predicting individualized and real-time prognosis.
Diagnostic value of [68Ga]Ga-FAPI-04 in patients with colorectal cancer in comparison with [18F]F-FDG PET/CT
Authors: Lin Xinfeng , Li Yingjie , Wang Shuailiang , Zhang Yan , Chen Xuetao , Wei Maomao , Zhu Hua , Wu Aiwen , Yang Zhi , Wang Xuejuan
Published: January 2023

Purpose

This study aimed to compare the diagnostic performance of [68Ga]Ga-FAPI-04 PET/CT and [18F]F-FDG PET/CT in primary and metastatic colorectal cancer (CRC) lesions.

Methods

This single-center preliminary clinical study (NCT04750772) was conducted at the Peking University Cancer Hospital & Institute and included 61 participants with CRC who underwent sequential evaluation through PET/CT with [18F]F-FDG and [68Ga]Ga-FAPI-04. Their PET/CT images were analysed to quantify the uptake of the two tracers in the form of maximum standardised uptake (SUVmax) values and target-to-background ratio (TBR), which were then compared using Wilcoxon’s signed-rank test. The final changes in the tumour–node–metastasis (TNM) stage of all participants were recorded.

Results

Of all the participants, 21 were treatment naïve and 40 had been previously treated. In primary CRC lesions, the average TBRs of [68Ga]Ga-FAPI-04 and [18F]F-FDG were 13.3 ± 8.9 and 8.2 ± 6.5, respectively. The SUVmax of [68Ga]Ga-FAPI-04 in signet-ring/mucinous carcinomas (11.4 ± 4.9) was higher than that of [18F]F-FDG (7.9 ± 3.6) (P = 0.03). Both median SUVmax in peritoneal metastases and TBR in liver metastases of [68Ga]Ga-FAPI-04 were higher than those of [18F]F-FDG (5.2 vs. 3.8, P < 0.001; 3.7 vs. 1.9, P < 0.001, respectively). Compared with [18F]F-FDG PET/CT, clinical TNM staging based on [68Ga]Ga-FAPI-04 PET/CT led to upstaging and downstaging in 10 (16.4%) and 5 participants (8.2%), respectively. Therefore, the treatment options were changed in 13 participants (21.3%), including 9 with additional chemo/radiotherapy and/or surgery and others with avoidance or narrowed scope of surgery.

Conclusion

[68Ga]Ga-FAPI-04 showed potential as a novel PET/CT tracer to detect lymph nodes and distant metastases, which improved CRC staging, thus prompting the optimisation or adjustment of treatment decisions.
Cervical cancer in Northern Tanzania—What do women living with HIV know
Authors: Mrema Dorah , Ngocho James Samwel , Mremi Alex , Amour Maryam , Machange Rogathe , Shayo Benjamin C. , Alloyce Julius P. , Ndosi Evaline , Shirima Beatus T. , Fande Device , Shehoza Rahma , Balandya Emmanuel , Sunguya Bruno , Mshana Stephen E. , Mteta Alfred K. , Lyamuya Eligius , Bartlett John , Mmbaga Blandina T.
Published: January 2023

Background

Cervical cancer (CC) is more prevalent in women living with human immunodeficiency virus (HIV) infection compared to the general population. The magnitude is high among all countries burdened with HIV—Tanzania is no exception. Despite the unprecedented risk, women living with HIV (WLHIV) may not be aware of the risk and might have unfounded beliefs thereof. This study aimed to determine the knowledge, awareness, and beliefs on CC screening among WLHIV attending a clinic at the Kilimanjaro Christian Medical Centre (KCMC) in Northern Tanzania.

Methods

This hospital-based cross-sectional study was conducted among 327 WLHIV attending care and treatment clinic (CTC) at KCMC. A pre-tested questionnaire was used to collect quantitative data. Both descriptive and regression methods were used to determine CC knowledge, awareness, and beliefs as well as factors associated with knowledge of CC among WLHIV using SPSS version 23.

Results

Participants’ mean age was 46 ± 10.4 years. Although just half (54.7%) of WLHIV had insufficient knowledge of CC, the majority of the participants (83.5%) were able to recognize at least three risk factors, but with limited understanding of symptoms and prevention. The majority held positive beliefs on CC and screening practices. Factors associated with good knowledge of CC included being married (AOR: 3.66, 95% CI: 1.84–7.28), having used ART for at least 2 years (AOR: 4.08, 95% CI: 1.36–12.21), and having previously screened for CC (AOR: 1.62, 95% CI: 1.01–2.59).

Conclusion

WLHIV attending care and treatment center had insufficient knowledge about CC screening. To further improve screening and treatment for CC, at both facility and community levels, targeted awareness and education campaigns are warranted.
Investigations into an overlooked early component of painful nociceptive withdrawal reflex responses in humans
Authors: Thorell Oumie , Ydrefors Johannes , Svantesson Mats , Gerdle Björn , Olausson Håkan , Mahns David A. , Nagi Saad S.
Published: January 2023

Introduction

The role of pain as a warning system necessitates a rapid transmission of information from the periphery for the execution of appropriate motor responses. The nociceptive withdrawal reflex (NWR) is a physiological response to protect the limb from a painful stimulus and is often considered an objective measure of spinal nociceptive excitability. The NWR is commonly defined by its latency in the presumed Aδ-fiber range consistent with the canonical view that “fast pain” is signaled by Aδ nociceptors. We recently demonstrated that human skin is equipped with ultrafast (Aβ range) nociceptors. Here, we investigated the short-latency component of the reflex and explored the relationship between reflex latency and pain perception.

Methods

We revisited our earlier work on NWR measurements in which, following convention, only reflex responses in the presumed Aδ range were considered. In our current analysis, we expanded the time window to search for shorter latency responses and compared those with pain ratings.

Results

In both cohorts, we found an abundance of recordings with short-latency reflex responses. In nearly 90% of successful recordings, only single reflex responses (not dual) were seen which allowed us to compare pain ratings based on reflex latencies. We found that shorter latency reflexes were just as painful as those in the conventional latency range.

Conclusion

We found a preponderance of short-latency painful reflex responses. Based on this finding, we suggest that short-latency responses must be considered in future studies. Whether these are signaled by the ultrafast nociceptors remains to be determined.
Unravelling var complexity: Relationship between DBLα types and var genes in Plasmodium falciparum
Authors: Tan Mun Hua , Shim Heejung , Chan Yao-ban , Day Karen P.
Published: January 2023

The enormous diversity and complexity of var genes that diversify rapidly by recombination has led to the exclusion of assembly of these genes from major genome initiatives (e.g., Pf6). A scalable solution in epidemiological surveillance of var genes is to use a small ‘tag’ region encoding the immunogenic DBLα domain as a marker to estimate var diversity. As var genes diversify by recombination, it is not clear the extent to which the same tag can appear in multiple var genes. This relationship between marker and gene has not been investigated in natural populations. Analyses of in vitro recombination within and between var genes have suggested that this relationship would not be exclusive. Using a dataset of publicly-available assembled var sequences, we test this hypothesis by studying DBLα-var relationships for four study sites in four countries: Pursat (Cambodia) and Mae Sot (Thailand), representing low malaria transmission, and Navrongo (Ghana) and Chikwawa (Malawi), representing high malaria transmission. In all study sites, DBLα-var relationships were shown to be predominantly 1-to-1, followed by a second largest proportion of 1-to-2 DBLα-var relationships. This finding indicates that DBLα tags can be used to estimate not just DBLα diversity but var gene diversity when applied in a local endemic area. Epidemiological applications of this result are discussed.
Functional tic-like behaviours during the COVID-19 pandemic: Follow-up over 12 months
Authors: Prato Adriana , Saia Federica , Milana Maria Chiara , Scerbo Miriam , Barone Rita , Rizzo Renata
Published: January 2023

Background

Functional tics are included in the wide spectrum of functional movement disorders (FMDs). Their distinction from organic tics is challenging because they both phenomenologically present common features. During the COVID-19 pandemic, there has been an increase in functional tic-like behaviours in vulnerable children and adolescents after social media exposure. This study explores the phenomenology and course of a cohort of newly diagnosed functional tic-like behaviors.

Methods

We analysed clinical data of 243 patients affected by tic disorders collected at outpatient Tourette Clinic, Child and Adolescent Neurology and Psychiatry Unit, Catania University. Among the clinical cohort with functional tic-like behaviors, we evaluated the clinical course of symptoms at follow-up visits after 6 and 12 months.

Results

Among the cohort of 243 patients referred for evaluation at our centre, 11 were diagnosed with functional tic–like behaviours. The majority of participants with functional tic–like behaviours were female with a mean age of 15 years old and presented an explosive symptom's onset. At follow-up visit after 12 months, patients with functional tic-like behaviors showed a significant variation in the severity of tics and anxiety symptoms. Conversely, depressive, and obsessive-compulsive symptoms did not significantly differ during the follow-up.

Conclusion

Our data suggest that several characteristics in clinical course and their phenomenology can help clinicians to distinguish functional tic–like behaviours from organic tics. Our results also suggest a better outcome for tics and anxiety symptoms respect on other comorbidities. A prompt diagnosis and management not only of tics but also comorbidities are recommended, as generally conventional pharmacotherapy for tics does not have positive effects on these patients.
Reduced circulating growth hormone and insulin-like growth factor-1 and delayed growth of premature rats are aggravated by longer daily duration of chronic intermittent hypoxia exposure
Authors: Zhang Chi , Du Xiaowan , Li Jingjing , Zhang Junbo , Yin Guoping
Published: January 2023

Objective

This study mainly aimed to investigate the effect of daily duration of chronic intermittent hypoxia (CIH) exposure on circulating growth hormone (GH)/insulin-like growth factor-1 (IGF-1) concentrations and body weight changes of premature rats.

Methods

40 healthy male SD rats aged six weeks were enrolled in this study. These rats were randomly divided into four groups (n = 10 per group), including normal control (NC) group (normal oxygen exposure every day), CIH-1 group (daily CIH exposure for 2 h), CIH-2 group (daily CIH exposure for 4 h), and CIH-3 group (daily CIH exposure for 8 h). The serum GH/IGF-1 concentrations and body weights in all rats were determined after 30 days of normal oxygen or CIH exposure.

Results

No significant difference was found with respect to the baseline body weight among the four groups of rats. After establishments of animal models with a duration of 30 days, significant differences were found respect to body weight, body weight changes, and serum GH/IGF-1 concentrations among the four groups of rats with a same trend (all P < 0.05): the highest values were all in NC group rats, followed CIH-1 group, CIH-2 group, and CIH-3 group rats. Among all the rats, the body weight changes correlated significantly with both serum GH and IGF-1 concentrations (both P < 0.05).

Conclusion

CIH decreases circulating GH/IGF-1 concentrations and causes growth delay in premature rats. Such effects could be aggravated by increased daily duration of CIH exposures.
Reoperation frequency after transverse preputial Island flap urethroplasty “Duckett’s technique” in treatment of severe hypospadias: A single center study
Authors: Li Jiayi , Liu Pei , Yang Zhenzhen , Wang Xinyu , Fan Songqiao , Li Zonghan , Song Hongcheng , Zhang Weiping
Published: January 2023

Purpose

Transverse Preputial Island Flap Urethroplasty (TPIFU) is one of the most common techniques for treating severe hypospadias. Studies on the reoperation frequency after TPIFU is lacking. In the present study, we reported our clinical outcomes of severe hypospadias treated with one-staged TPIFU and analyzed the operation frequency.

Methods

We retrospectively analyzed the clinical data of severe hypospadias patients who underwent one-stage TPIFU from December 2018 to December 2019 in the department of Urology at Beijing Children's Hospital. A stepwise approach was used to manage the curvature. Severe hypospadias was defined as those residual curvature was higher than 30° after degloving. Urethroplasty complications included fistula, urethral stricture, and diverticulum. The short-term cure was identified as no complications occurring for 12 months after the date of last-time surgery. The reoperation rate and operation frequency of TPIFU were analyzed.

Results

A total of 136 patients who underwent one-stage TPIFU were included in the study. The follow-up after primary urethroplasty ranged from 22 to 50 months. The median age at primary surgery was 22.5 months (range from 13 to 132 months). After primary TPIFU surgery, 53 (39%) patients underwent additional surgical interventions to treat postoperative complications. Among them, 24 patients (17.6%) developed fistula, 17 patients (12.5%) developed urethral stricture and 11 patients (8.1%) developed diverticulum. After the second surgery, five patients remained fistula, five patients remained urethral stricture, and seven patients remained diverticulum. Overall, 61% (85 patients) met the cured standard after the primary operation, and the two operations cure rate was 87.5% (119 patients). 91.2% (124 patients) were cured in three operations.

Conclusions

Although the complication rates after primary TPIFU were relatively high, more than half of patients achieved short-term cured through a single operation, and the cure rate after two or three operations was acceptable.
Brief research report: Chest radiographic thoracic area in term ventilated infants without respiratory disease
Authors: Dassios Theodore , Adu John , Greenough Anne
Published: January 2023

Objective

To report values of the chest radiographic thoracic area (CRTA) in ventilated, term-born infants without respiratory disease and to evaluate whether CRTA is related to demographic data at birth.

Methods

Retrospective, observational cohort study in a tertiary neonatal unit at King's College Hospital NHS Foundation Trust, London, UK.

Newborn infants born after 36 completed weeks of gestation, ventilated for poor perinatal adaptation or hypoxic ischaemic encephalopathy without respiratory disease and admitted in a recent eight-year period (2014–2022).

The CRTA was assessed by free-hand tracing of the perimeter of the thoracic area as outlined by the diaphragm and the rib cage excluding the mediastinal structures and was calculated using the Sectra PACS software.

Results

One hundred and twenty-one infants (75 male) were included with a median (IQR) gestation of 40 (38–41) weeks and birth weight of 3.41 (3.04–3.75) kg. The median (IQR) CRTA was 2,589 (2,167–2,943) mm2 and was significantly related to birth weight (r = 0.316, p = 0.003), gestation at birth (r = 0.193, p = 0.032) and birth weight z-score (r = 0.187, p = 0.038).

Conclusions

We report values of the chest radiographic thoracic area in ventilated term-born infants which could be used as reference for determining respiratory disease severity.
Lumasiran for primary hyperoxaluria type 1: What we have learned?
Authors: Gang Xuan , Liu Fei , Mao Jianhua
Published: January 2023

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive genetic disorder caused by mutations in the AGXT gene. The hepatic peroxisomal enzyme alanine glyoxylate aminotransferase (AGT) defects encoded by the AGXT gene increase oxalate production, resulting in nephrocalcinosis, nephrolithiasis, chronic kidney disease, and kidney failure. Traditional pharmacological treatments for PH1 are limited. At present, the treatment direction of PH1 is mainly targeted therapy which refer to a method that targeting the liver to block the pathway of the production of oxalate. Lumasiran (OxlumoTM, developed by Alnylam Pharmaceuticals), an investigational RNA interference (RNAi) therapeutic agent, is the first drug approved for the treatment of PH1, which was officially approved by the US Food and Drug Administration and the European Union in November 2020. It is also the only drug that has been shown to decrease harmful oxalate. Currently, there are 5 keys completed and ongoing clinical trials of lumasiran in PH1. Through the three phase III trials that completed the primary analysis period, lumasiran has been shown to be effective in reducing oxalate levels in urine and plasma in different age groups, such as children, adults, and patients with advanced kidney disease, including those on hemodialysis. In addition to clinical trials, cases of lumasiran treatment for PH1 have been reported in small infants, twin infants, and children diagnosed with PH1 after kidney transplantation. These reports confirm the effectiveness and safety of lumasiran. All adverse events were of mild to moderate severity, with the most common being mild, transient injection-site reactions. No deaths or severe adverse events were reported. This article reviews PH1 and lumasiran which is the only approved therapeutic drug, and provide new options and hope for the treatment of PH1.
Survey on currently applied interventions in neonatal resuscitation (SCIN): A study protocol
Authors: Eckart Falk , Kaufmann Maxi , O’Donnell Colm P. F. , Mense Lars , Rüdiger Mario
Published: January 2023

Introduction

Around 140 million children are born every year and post-natal transition is uncomplicated in the vast majority. However, around 5%–15% of neonates receive supportive interventions during transition. Recent data on the interventions used is scarce. More data on the frequencies with which these interventions are used is needed to evaluate neonatal resuscitation, guide recommendations and to generate hypotheses for further research. The following protocol describes an international, multicentre survey on the interventions currently applied during neonatal resuscitation.

Objectives

To determine the frequencies at which different supportive interventions recommended by European Resuscitation Council (ERC) guidelines for neonatal resuscitation are used. To compare the frequencies between hospitals and patient groups and to investigate possible factors influencing any differences found.

Methods

Participating hospitals will collect data on all interventions performed during neonatal resuscitation over a period of 6 months. All hospitals providing perinatal care are eligible regardless of size and designated level of neonatal care. Every neonate requiring more interventions than basic drying and tactile stimulation during the first 30 min of life will be included. The targeted sample size is at least 4,000 neonates who receive interventions. After anonymization, the data is pooled in a common database and descriptive and statistical analysis is performed globally and in subgroups. Possible correlations will be investigated with phi coefficient and chi square testing.

Ethics and dissemination

Consent of the institutional review board of the Technical University Dresden was obtained for the local data collection under the number BO-EK-198042022. Additionally, approval of local ethical or institutional review boards will be obtained by the participating hospitals if required. Results will be published in peer-reviewed journals and presented at suitable scientific conferences.
Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency
Authors: Liu Xiaoyu , Xiao Huijie , Yao Yong , Wang Suxia , Zhang Hongwen , Zhong Xuhui , Yang Yanling , Ding Jie , Wang Fang
Published: January 2023

Objective

CblC deficiency, the most common cobalamin metabolic abnormality, is caused by pathogenic variants in the MMACHC gene. The renal complications of this disease have been described only in a small number of cases. This study aimed to better delineate renal phenotype and genetic characteristics in Chinese children with cblC defect.

Methods

Children with cblC deficiency who manifested as kidney damage were enrolled. Clinical, renal pathological, and genetic data were reviewed in detail.

Results

Seven cases were enrolled. Ages at disease onset ranged from 9 months to 5 years. All patients presented with hematuria and proteinuria, and 2/7 cases presented with nephrotic syndrome. Renal dysfunction was observed in 4/7 cases. Renal biopsy was performed in 5/7 cases, and all of them had renal thrombotic microangiopathy. Macrocytic anemia was detected in all seven patients. Six out of seven cases had hypertension, and 2/7 cases presented with pulmonary hypertension. Two of them had a mild intellectual disability, and one suffered from epilepsy. Increased urine methylmalonic acid and plasma homocysteine were detected in seven cases, while two patients had normal levels of urine methylmalonic acid at the initial evaluation. After diagnosis, all seven cases were treated with hydroxocobalamin IM. Six cases were followed-up for 3–8 years. After treatments, anemia was the first to be recovered, followed by proteinuria. Renal function recovered after 1 year in two cases, whereas patient 2 progressed to stage 2 chronic kidney disease 13 years after onset. While a case presented with end-stage kidney disease because of late diagnosis, one case died 3 months after disease onset due to giving up treatment. Three MMACHC pathogenic variants c.80A > G (8/14), c.609G > A (4/14), and c.658_660delAAG (2/14) were detected in all seven children.

Conclusion

MMACHC variant c.80A > G may be associated with prominent renal complications in Chinese cblC patients. Macrocytic anemia and hyperhomocysteinemia are useful clues for patients with hematuria and proteinuria caused by cblC defect. The most frequent renal pathological manifestation is thrombotic microangiopathy. Early diagnosis and treatment resulted in improving renal and hematological signs.
Case report: Venetoclax therapy in a boy with acute myeloid leukemia in Shwachman Diamond syndrome
Authors: Naviglio Samuele , Grasso Antonio Giacomo , Iacono Chiara , Zanella Giada , Kiren Valentina , Giurici Nagua , Verzegnassi Federico , Maximova Natalia , Rabusin Marco
Published: January 2023

Shwachman-Diamond syndrome (SDS) is a rare bone marrow failure syndrome characterized by exocrine pancreatic insufficiency, bone abnormalities, progressive cytopenia, and predispositions to myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). AML, in these patients, is associated with a poor prognosis and with an increased risk of organ toxicity and infectious complications from chemotherapy and hematopoietic stem cell transplantation (HSCT), thus leading to high rates of treatment-related morbidity and mortality. The BCL-2 inhibitor venetoclax has revolutionized the treatment of AML in elderly adults, especially for treatment-naive elderly patients who are ineligible for intensive chemotherapy. There is limited evidence on the use of venetoclax in pediatric patients with SDS-related MDS or AML. Here, we report a case of a 14-year-old boy with SDS with AML arising from MDS. The patient was treated with two cycles of conventional chemotherapy with fludarabine and cytarabine with an initial good response but immediate relapse and substantial toxicity. Treatment with venetoclax and azacitidine was started, with a substantial reduction of leukemic burden (good response on peripheral leukemic infiltration and partial response in the bone marrow after one course). However, it was followed by multiple infectious complications and worsening of the general condition not allowing treatment to be continued, and the patient eventually died from multiorgan failure. With the limitations of observation of a single patient, our experience suggests that venetoclax/azacitidine combination therapy may represent a therapeutic possibility for patients with SDS and AML, even though it may be associated with significant toxicity.
Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia
Authors: Wang Zhengrong , Xu Yuqing , Sun Yixi , Wang Shuang , Dong Minyue
Published: January 2023

Glanzmann thrombasthenia (GT) is a rare inherited disease characterized by mucocutaneous bleeding due to the abnormalities in quantity or quality of platelet membrane GP IIb (CD41) or GP IIIa (CD61). GP IIb and GP IIIa are encoded by the ITGA2B and ITGB3 genes, respectively. Herein, we described a 7-year-old Chinese boy of the consanguineous couple who was diagnosed with GT based on the typical clinical manifestations, absence of blood clot retraction and the reduced expression of CD41 and CD61 in platelets. A homozygous silent variant c.1431C > T (p. G477=) of the ITGB3 gene was identified by the Whole-exome sequencing and confirmed by Sanger sequencing. The variant was predicted to affect the splicing. RT-PCR and sequencing revealed that the variant caused a deletion of 95 base pairs and frameshift, and subsequently created a premature stop codon in exon 10 of ITGB3 (p. G477Afs*30). It was indicated that the variant c.1431C > T (p. G477=) of ITGB3 was the cause for Glanzmann thrombasthenia. Our findings expanded the mutation spectrum and provided the information for the genetic counseling, prenatal diagnosis and preimplantation genetic testing (PGT).
Comparison of the clinical features of human bocavirus and metapneumovirus lower respiratory tract infections in hospitalized children in Suzhou, China
Authors: Tang Xifeng , Dai Ge , Wang Ting , Sun Huiming , Jiang Wujun , Chen Zhengrong , Yan Yongdong
Published: January 2023

Objective

We compared the clinical data of hospitalized children with lower respiratory tract infections caused by human bocavirus (HBoV) and human metapneumovirus (hMPV).

Methods

In total, 8,430 children admitted to the Department of Respiration, Children's Hospital of Soochow University for lower respiratory tract infections from January 2017 to October 2021 were enrolled. Seven common respiratory viruses, including respiratory syncytial virus, influenza virus A, influenza virus B, parainfluenza virus (PIV) I, PIV II, PIV III, and adenovirus, were detected by direct immunofluorescence assay, whereas human rhinovirus and hMPV were detected by reverse transcription-polymerase chain reaction. Mycoplasma pneumoniae (MP) and HBoV were detected by real-time fluorescence quantitative polymerase chain reaction. Bacteria was detected in blood, nasopharyngeal secretion, bronchoalveolar lavage specimen or pleural fluid by culture. In parallel, MP was detected by enzyme-linked immunosorbent assay. In addition, we performed metagenomic testing of alveolar lavage fluid from some of the patients in our study.

Results

The detection rate of HBoV was 6.62% (558/8430), whereas that of hMPV was 2.24% (189/ 8430). The detection rate of HBoV was significantly higher in children aged 1 to <3 years than in other age groups, but there were no significant differences in positivity rates for hMPV by age. Before 2020, the incidence of HBoV infection peaked in summer and autumn, whereas that of hMPV peaked in spring. The epidemiology of both HBoV and hMPV has changed because of the impact of the novel coronavirus. Among the positive cases, the HBoV mixed infection rate was 51.6%, which was similar to that for hMPV mixed infection (44.4%). Comparing clinical characteristics between HBoV and hMPV single infection, the median age of children was 17 months in the HBoV group and 11 months in the hMPV group. In the HBoV single infection group, 31 patients (11.5%) had pulse oxygen saturation of less than 92% on admission, 47 (17.4%) had shortness of breath, and 26 (9.6%) presented with dyspnea. Meanwhile, four patients (3.8%) in the hMPV single infection group had pulse oxygen saturation of less than 92% on admission, eight (7.6%) displayed shortness of breath, and three (2.9%) had dyspnea. The proportion of patients requiring mechanical ventilation and the rate of PICU admission were higher in the HBoV group than in the hMPV group.

Conclusion

The prevalence of HBoV infection is higher than that of hMPV infection in children with lower respiratory tract infection in Suzhou, and HBoV is more likely to cause severe infection than hMPV. Public health interventions for COVID-19 outbreaks have affected the prevalence of HBoV and hMPV.
Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis
Authors: Zhu Kang , Jin Yingkang
Published: January 2023

The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the ion transport of chloride (Cl-), iodide (I-) or bicarbonate (HCO3-). Mutations in the SLC26A4 gene alter the structure and (or) function of pendrin, which are closely related to Pendred syndrome. What’s more, researchers have demonstrated in vitro that mutations of SLC26A4 cause acidification of airway surface fluid (ASL), reduce airway defense, and increase the thickness of ASL. In the context of infection, it may lead to chronic inflammation, destruction of airway wall architecture and bronchiectasis. However, there is no case report of bronchiectasis caused by SLC26A4 gene mutations. Here, we describe the first case of Pendred syndrome and non-cystic fibrosis bronchiectasis in a child possibly caused by SLC26A4 mutations. We remind clinicians to pay attention to the possibility of bronchiectasis in patients with SLC26A4 gene mutations.
Robotic-assisted laparoscopic management of mesenteric cysts in children
Authors: Chen Qingjiang , Zhang Shuhao , Luo Wenjuan , Cai Duote , Zhang Yuebin , Huang Zongwei , Xuan Xiaoxiao , Xiong Qixing , Gao Zhigang
Published: January 2023

Background

Mesenteric cysts (MCs) are rare intra-abdominal masses in children, and laparoscopic complete cyst resection is still difficult. This study reviewed our experience in diagnosing and managing MCs at our center, focusing on the clinical characteristics of MCs and the effectiveness of robotic-assisted laparoscopic surgery.

Methods

We conducted a retrospective analysis of the records of all patients diagnosed with MCs and managed with robotic-assisted laparoscopic surgery at our center between February 2021 and August 2022. We analyzed demographic characteristics, clinical manifestations, preoperative imaging data, surgical methods, postoperative complications, and final outcomes.

Results

Totally, 12 consecutive patients with a mean age of 5.81 ± 3.02 years were admitted. The most common symptom was abdominal pain (58.33%). Eight patients were associated with cyst complications, including five cases of infection, two cases of volvulus, and one case of hemorrhage. The mean size of cysts was 8.39 ± 5.91 cm. The cysts were located in ileal mesentery in eight cases, lesser curvature of the stomach in two cases, and colon mesentery in two cases. Solely cyst excision was performed in eight cases, and bowel en bloc resection of the cyst in four cases. Robotic-assisted laparoscopic surgery was performed successfully in all patients, without conversion. The mean operation time was 106.17 ± 33.74 min. Pathological results reported lymphangioma or lymphatic malformation in all patients. Two cases of chylous leakage were treated conservatively, and no complications of peritoneal infection, anastomotic leakage, and recurrence were observed.

Conclusions

Mesenteric cysts should be removed promptly once the diagnosis is confirmed to avoid cyst complications. For uncomplicated mesenteric cysts, laparoscopic cyst excision, or cyst excision with bowel resection can be effectively performed in children, especially under the robot system.