bluuebunny/crossref_metadata_2025_split huggingface dataset:
Intraarticular injection of microfragmented adipose tissue plus arthroscopy in isolated primary patellofemoral osteoarthritis is clinically effective and not affected by age, BMI, or stage of osteoarthritis
Authors: Vasso Michele , Corona Katia , Capasso Luigi , Toro Giuseppe , Schiavone Panni Alfredo 
Published: February 2022

Abstract
Purpose
This study aimed to report the clinical and functional results of a series of patients with isolated primary patellofemoral osteoarthritis (PFOA) treated with intraarticular injection of microfragmented autologous adipose tissue plus knee arthroscopy. The results were also analyzed in relation to the age and body mas index (BMI) of patients, and to the stage of PFOA.

Methods
Twenty-three patients with early-to-moderate (stage 1–3 according to the Iwano classification system) PFOA who received this treatment were retrospectively analyzed, with a mean follow-up of 22.1 ± 4.2 months. Patients were assessed using the International Knee Society (IKS) knee and function and visual analog scale (VAS) scores, and relative to their capacity for climbing stairs. Differences in improvements of IKS and VAS scores in relation to age (< 60 versus ≥ 60 years), BMI (< 30 versus ≥ 30 kg/m2), and stage of PFOA (stages 1–2 versus stage 3) were finally analyzed.

Results
The mean IKS knee score significantly improved from 35.6 ± 14.9 points preoperatively to 61.9 ± 17.8 points at the latest follow-up, while the mean IKS function score significantly improved from 52.0 ± 14.7 points preoperatively to 82.3 ± 19.1 points at the latest follow-up. The mean VAS score significantly decreased from 8.7 ± 2.2 preoperatively to 5.2 ± 2.5 at the latest follow-up. A significant improvement in the capacity to climb stairs was found. No significant differences in improvements of IKS knee and function and VAS scores were found in relation to age, BMI, or stage of PFOA.

Conclusion
Intraarticular injection of microfragmented autologous adipose tissue following arthroscopic debridement significantly improved overall clinical and functional scores in patients with early or moderate isolated primary PFOA at a mean follow-up of almost 2 years. Improvements were not significantly affected by age, BMI, or stage of PFOA.

Level of evidence
Level IV, retrospective case series.
ScreenGarden: a shinyR application for fast and easy analysis of plate-based high-throughput screens
Authors: Klemm Cinzia , Howell Rowan S. M. , Thorpe Peter H. 
Published: February 2022

Abstract
Background
Colony growth on solid media is a simple and effective measure for high-throughput genomic experiments such as yeast two-hybrid, synthetic dosage lethality and Synthetic Physical Interaction screens. The development of robotic pinning tools has facilitated the experimental design of these assays, and different imaging software can be used to automatically measure colony sizes on plates. However, comparison to control plates and statistical data analysis is often laborious and pinning issues or plate specific growth effects can lead to the detection of false-positive growth defects.

Results
We have developed ScreenGarden, a shinyR application, to enable easy,
quick and robust data analysis of plate-based high throughput assays. The code allows comparisons of different formats of data and different sized arrays of colonies. A comparison of ScreenGarden with previous analysis tools shows that it performs, at least, equivalently. The software can be run either via a website or offline via the RStudio program; the code is available and can be modified by expert uses to customise the analysis.

Conclusions
ScreenGarden provides a simple, fast and effective tool to analyse colony growth data from genomic experiments.
Mutation analysis of disease causing genes in patients with early onset or familial forms of Alzheimer’s disease and frontotemporal dementia
Authors: Pagnon de la Vega María , Näslund Carl , Brundin RoseMarie , Lannfelt Lars , Löwenmark Malin , Kilander Lena , Ingelsson Martin , Giedraitis Vilmantas 
Published: February 2022

Abstract
Background
Most dementia disorders have a clear genetic background and a number of disease genes have been identified. Mutations in the tau gene (MAPT) lead to frontotemporal dementia (FTD), whereas mutations in the genes for the amyloid-β precursor protein (APP) and the presenilins (PSEN1, PSEN2) cause early-onset, dominantly inherited forms of Alzheimer’s disease (AD).
Even if mutations causing Mendelian forms of these diseases are uncommon, elucidation of the pathogenic effects of such mutations have proven important for understanding the pathogenic processes. Here, we performed a screen to identify novel pathogenic mutations in known disease genes among patients undergoing dementia investigation.

Results
Using targeted exome sequencing we have screened all coding exons in eleven known dementia genes (PSEN1, PSEN2, APP, MAPT, APOE, GRN, TARDBP, CHMP2B, TREM2, VCP and FUS) in 102 patients with AD, FTD, other dementia diagnoses or mild cognitive impairment.
We found three AD patients with two previously identified pathogenic mutations in PSEN1 (Pro264Leu and Met146Val). In this screen, we also identified the recently reported APP mutation in two siblings with AD. This mutation, named the Uppsala mutation, consists of a six amino acid intra-amyloid β deletion.
In addition, we found several potentially pathogenic mutations in PSEN2, FUS, MAPT, GRN and APOE. Finally, APOE ε4 was prevalent in this patient group with an allele frequency of 54%.

Conclusions
Among the 102 screened patients, we found two disease causing mutations in PSEN1 and one in APP, as well as several potentially pathogenic mutations in other genes related to neurodegenerative disorders. Apart from giving important information to the clinical investigation, the identification of disease mutations can contribute to an increased understanding of disease mechanisms.
Potential influencing factors of aortic diameter at specific segments in population with cardiovascular risk
Authors: Chen Tingting , Yang Xingan , Fang Xiaoxin , Tang Lijiang , Zhang Yang , Weng Yingzheng , Zhang Hongliang , Wu Juntao , Mao Ping , Xu Baohui , Jiang Jianjun , Chen Xiaofeng 
Published: February 2022

Abstract
Background
Aortic diameter is a critical parameter for the diagnosis of aortic dilated diseases. Aortic dilation has some common risk factors with cardiovascular diseases. This study aimed to investigate potential influence of traditional cardiovascular risk factors and the measures of subclinical atherosclerosis on aortic diameter of specific segments among adults.

Methods
Four hundred and eight patients with cardiovascular risk factors were prospectively recruited in the observational study. Comprehensive transthoracic M-mode, 2-dimensional Doppler echocardiographic studies were performed using commercial and clinical diagnostic ultrasonography techniques. The aortic dimensions were assessed at different levels: (1) the annulus, (2) the mid-point of the sinuses of Valsalva, (3) the sinotubular junction, (4) the ascending aorta at the level of its largest diameter, (5) the transverse arch (including proximal arch, mid arch, distal arch), (6) the descending aorta posterior to the left atrium, and (7) the abdominal aorta just distal to the origin of the renal arteries. Multivariable linear regression analysis was used for evaluating aortic diameter-related risk factors, including common cardiovascular risk factors, co-morbidities, subclinical atherosclerosis, lipid profile, and hematological parameters.

Results
Significant univariate relations were found between aortic diameter of different levels and most traditional cardiovascular risk factors. Carotid intima-media thickness was significantly correlated with diameter of descending and abdominal aorta. Multivariate linear regression showed potential effects of age, sex, body surface area and some other cardiovascular risk factors on aortic diameter enlargement. Among them, high-density lipoprotein cholesterol had a significantly positive effect on the diameter of ascending and abdominal aorta. Diastolic blood pressure was observed for the positive associations with diameters of five thoracic aortic segments, while systolic blood pressure was only independently related to mid arch diameter.

Conclusion
Aortic segmental diameters were associated with diastolic blood pressure, high-density lipoprotein cholesterol, atherosclerosis diseases and other traditional cardiovascular risk factors, and some determinants still need to be clarified for a better understanding of aortic dilation diseases.
Diaphragmatic perforation after transcatheter arterial chemoembolization of hepatocellular carcinoma via inferior phrenic artery: a case report
Authors: Kim Ji Soo , Lee Hyoung Nam , Lee Woong Hee , Bae Suk Hyun 
Published: February 2022

Abstract
Background
Transcatheter arterial chemoembolization (TACE) via the inferior phrenic artery has been recognized to have its own therapeutic role without causing serious procedural complications. We report a case of diaphragmatic perforation after repeated TACE sessions conducted via the right inferior phrenic artery.

Case presentation
A 43-year-old man diagnosed with hepatocellular carcinoma was admitted to the hospital with a chief complaint of cough. The patient underwent TACE via the right inferior phrenic artery 3 months prior and was discharged without specific complications. Physical examination revealed decreased breathing sounds in the right lower lung zone. Chest radiograph demonstrated a small right pleural effusion. Chest CT scan revealed a small diaphragmatic perforation. The patient was unable to undergo surgical exploration, and a follow-up CT scan after 2 months revealed progression of the right diaphragmatic perforation with massive herniation of omental fat into the thoracic cavity.

Conclusions
Although TACE via the inferior phrenic artery is a relatively safe procedure, it can be associated with rare but serious complications after repeated procedures. This is a rare case report of diaphragmatic perforation after TACE via the right inferior phrenic artery. Early recognition and prompt surgical management are essential to prevent catastrophic outcomes.
Association between plasma level of superoxide dismutase and survival of patients with acute-on-chronic liver failure
Authors: Tian Zhen , Yao Naijuan , Wu Yuchao , Wang Fei , Zhao Yingren 
Published: February 2022

Abstract
Background
Fewer than 50% of patients with acute-on-chronic liver failure (ACLF) recover spontaneously, and ACLF has high mortality without liver transplantation. Oxidative stress has been shown to mediate hepatic inflammation during acute liver failure (ALF). We wanted to see if a biomarker for oxidative stress might be used to measure the severity and prognosis of ACLF patients.

Methods
A retrospective cohort of 124 ACLF patients, as well as healthy individuals, liver cirrhosis and ALF patients, was studied between January 2015 and September 2018. The levels of plasma superoxide dismutase (SOD) were detected using an ELISA commercial kit, and the Kaplan–Meier method was used for survival analysis.

Results
Patients with ACLF had statistically higher plasma SOD levels than the controls did (healthy controls and liver cirrhosis patients); however, the levels did not differ from those in patients with ALF. The plasma SOD level may be an inexpensive, easily accessible, and significant independent prognostic index for mortality on multivariate analysis (HR = 1.201, 95% CI 1.001–1.403, P < 0.01) as well as the model for end-stage liver disease (MELD) score. A level of SOD > 428 U/mL was linked to a statistically significant increase in the likelihood of death or liver transplantation in ACLF patients. Combination of plasma SOD levels and MELD scores improved performance in measuring the severity and prognosis of ACLF patients.

Conclusion
Patients with ACLF can be classified into high-risk and low-risk groups based on their plasma SOD levels at the time of admission to the hospital. The patient outcome is more closely connected with the combination of SOD level and MELD score than either value alone. This approach might be used to predict patient prognoses and prioritize liver transplant candidates.
Importance of TP53 codon 72 and intron 3 duplication 16 bp polymorphisms and their haplotypes in susceptibility to sarcopenia in Iranian older adults
Authors: Montazeri-Najafabady Nima , Dabbaghmanesh Mohammad Hossein , Nasimi Nasrin , Sohrabi Zahra , Estedlal Alireza , Asmarian Naeimehossadat 
Published: February 2022

Abstract
Background
Sarcopenia is described as age-related progressive skeletal muscle failure that results in marked reduction in the patient’s independence and life quality. In this study, we explored the association of TP53 exon 4 Arg72pro (rs1042522) and Intron 3 16-bp Del/Ins (rs17878362) polymorphisms and their haplotypes with sarcopenia, anthropometric, body composition and biochemical parameters.

Methods
A total of 254 older individuals (65 sarcopenic and 189 healthy) were recruited in this research and genotyped by PCR–RFLP. Linear regression was applied to find the correlation between TP53 polymorphism, and biochemical and anthropometric parameters. The correlation between TP53 polymorphism and haplotypes and the risk of sarcopenia was investigated by logistic regression.

Results
Arg/Pro genotype carriers was at a lower (ORadj = 0.175, 95% CI = 0.068 – 0.447; P < 0.001) risk of sarcopenia compared to the Arg/Arg group. In haplotypes analysis, Arg-Ins (ORadj: 0.484, 95% CI = 0.231 – 1.011, P = 0.043) and Pro-Ins (ORadj: 0.473, 95% CI = 0.210 – 1.068, P = 0.022) haplotypes showed decreased risk of developing sarcopenia. Moreover, in the case of codon 72 polymorphism, skeletal muscle mass, appendicular lean mass (ALM), skeletal muscle mass index (SMI), hand grip strength and Triglycerides, for Intron 3 16-bp Del/Ins polymorphism, albumin, calcium, cholesterol, and LDL were different, and for the haplotypes, skeletal muscle mass, SMI, ALM, HDL and triglycerides were significantly different between groups.

Conclusions
We suggested that the Arg/Pro genotype of the codon 72 polymorphism in exon 4 of TP53, and Arginine-Insertion and Proline-Insertion haplotypes might decrease the risk of sarcopenia in Iranian older adults.
Smart clothes-assisted home-nursing care program for family caregivers of older persons with dementia and hip fracture: a mixed-methods study
Authors: Hou Yi-Jun , Zeng Sih-Ying , Lin Chung-Chih , Yang Ching-Tzu , Huang Huei-Ling , Chen Min-Chi , Tsai Hsiu-Hsin , Liang Jersey , Shyu Yea-Ing L. 
Published: February 2022

Abstract
Background
The purpose of this preliminary study was to explore whether a smart clothes-assisted home-nursing care program could benefit family caregivers and their care recipients.

Methods
Family caregivers in charge of a care recipient’s living situation participated in this convergent parallel, mixed methods study. We recruited older persons with dementia (n = 7) and those discharged following hip-fracture surgery (n = 6) from neurological clinics and surgical wards of a medical center, respectively, along with their family caregivers: three spouses, eight sons, one daughter, and one daughter-in-law. Care recipients were asked to wear a smart vest at least 4 days/week for 6 months, which contained a coin-size monitor hidden in an inner pocket. Sensors installed in bedrooms and living areas received signals from the smart clothing, which were transmitted to a mobile phone app of homecare nurses, who provided caregivers with transmitted information regarding activities, emergency situations and suggestions for caregiving activities. Outcomes included changes from baseline in caregivers’ preparedness and depressive symptoms collected at 1- and 3-months, which were analyzed with Friedman’s non-parametric test of repeated measures with post-hoc analysis. Transcripts of face-to-face semi-structured interview data about caregivers’ experiences were analyzed to identify descriptive, interpretative, and pattern codes.

Results
Preparedness did not change from baseline at either 1- or 3-months for family caregivers of persons with dementia. However, depressive symptoms decreased significantly at 1-month and 3-months compared with baseline, but not between 1-months and 3-months. Analysis of the interview data revealed the smart clothes program increased family caregivers’ knowledge of the care recipient’s situation and condition, informed healthcare providers of the care recipient’s physical health and cognitive status, helped homecare nurses provide timely interventions, balanced the care recipient’s exercise and safety, motivated recipients to exercise, helped family caregivers balance work and caregiving, and provided guidance for caregiving activities.

Conclusions
Experiences with the smart clothes-assisted home-nursing care program directly benefited family caregivers, which provided indirect benefits to the care recipients due to the timely interventions and caregiving guidance from homecare nurses. These benefits suggest a smart-clothes-assisted program might be beneficial for all family caregivers.
Schistosoma japonicum infection associated with membranous nephropathy: a case report
Authors: Liao Zhou-Ning , Tao Li-Jian , Yin Hong-ling , Xiao Xiang-Chen , Lei Min-Xiang , Peng Zhang-Zhe 
Published: February 2022

Abstract
Background
Schistosomiasis is one of the most contagious parasitic diseases affecting humans; however, glomerular injury is a rare complication mainly described with Schistosoma mansoni infection. We report a case of membranous nephropathy associated with Schistosoma japonicum infection in a Chinese man.

Case presentation
A 51-year-old Chinese male with a long history of S. japonicum infection presented to the hospital with a slowly progressing severe lower limb edema and foaming urine for over 5 months. Serum S. japonicumantigen test was positive and immunohistochemistry showed that the glomeruli were positive for the antigens. The renal pathologic diagnosis was stage III membranous nephropathy. The patient was treated with glucocorticoid, praziquantel, and an angiotensin-converting enzyme inhibitor. The edema in both lower limbs disappeared within 2 weeks, but his renal function declined progressively and proteinuria persisted after 5 months of therapy.

Conclusions
Different classes of schistosomal glomerulopathy have completely different clinical manifestation and prognosis. Therefore, efforts should focus on alleviating symptoms, prevention, and early detection. S. japonicumassociated with membranous nephropathy may show a good curative effect and prognosis. However, it is necessary to monitor the renal function in such patients.
Acute myelitis with multicranial neuritis caused by Varicella zoster virus: a case report
Authors: Liu Qi , Zhou Xiaomeng , Li Zhenfei 
Published: February 2022

Abstract
Background
Varicella zoster virus (VZV) can remain lifelong in the latent state in ganglionic neurons and adrenal glands after the initial infection. However, it can be reactivated anytime and can trigger several severe neurological manifestations such as encephalitis, meningitis, Ramsay-Hunt syndrome, cerebellitis, myelitis, and stroke. In addition, due to the diversity of clinical manifestations, clinical diagnosis of VZV can be difficult, especially in the absence of varicella. Here, we describe the case of a 52-year-old male who presented with symptoms of acute myelitis as well as polycranial neuritis, and was finally diagnosed with VZV infection through metagenomic next-generation sequencing (mNGS).

Case presentation
A 52-year-old male came to our hospital with complaint of headache, fever, weakness of right lower limb, abdominal distension, and hearing loss. T2-weighted MRI revealed a hyperintense lesion in the spinal cord extending from T8 to T11. In addition, enhanced MRI showed small patches and strips hyperintensities in both the spinal cord and meninges. Plain abdominal radiographs and abdominal computed tomography (CT) scan displayed air-fluid levels and incomplete bowel obstruction. Moreover, electrophysiological evaluation of the peripheral neuropathy in the extremities was found to be normal. Finally, by using metagenomic next-generation sequencing (mNGS) we found that the copy number of VZV DNA in cerebrospinal fluid (CSF) was significantly increased and IgG antibody against VZV in CSF was also noted to be positive. Hence, VZV infection was identified in patient’s central neuron system. Finally, after a few days of low dose steroid treatment, the patient's symptoms were found to be significantly improved.

Conclusions
The findings indicate that we should pay proper attention to the various symptoms caused by VZV infection due to the clinical heterogeneity, especially in the absence of cutaneous lesions.
Gestational weight gain rates in the first and second trimesters are associated with small for gestational age among underweight women: a prospective birth cohort study
Authors: Wei Xueling , Shen Songying , Huang Peiyuan , Xiao Xiong , Lin Shanshan , Zhang Lifang , Wang Chengrui , Lu Min-Shan , Lu Jinhua , Tam Wing Hung , Wang Chi Chiu , He Jian-Rong , Qiu Xiu 
Published: February 2022

Abstract
Background
Despite the well-studied effects of gestational weight gain (GWG) on offspring health, little is known about the association of trimester-specific GWG with offspring birth weight among underweight pregnant women. This study aimed to explore the association of trimester-specific GWG rate with small for gestational age (SGA) in underweight women.

Methods
The GWG rate of underweight pregnant women (pre-pregnancy body mass index [BMI] lower than 18.5 kg/m2) of the Born in Guangzhou Cohort Study was calculated as the weight gain during a specific trimester divided by the corresponding duration of week. Total GWG was calculated as the weight difference between pre-pregnancy and delivery, and was categorized into inadequate, adequate, and excessive weight gain based on the 2009 Institute of Medicine (IOM) weight gain recommendation. The INTERGROWTH-21st standards were used to define SGA. Logistic regression models were used to examine the associations of total GWG and trimester-specific GWG rates with SGA. Associations between trimester-specific GWG rates and SGA were also analyzed separately based on different total GWG categories (i.e. inadequate and adequate/excessive GWG).

Results
Of the 3839 participants, SGA births occurred in 397 (10.3%), and mean GWG was 14.9 kg (SD 3.9). A lower risk of SGA was observed among women with higher GWG rate (per 0.5 kg/week increase) during the first (adjusted OR [aOR] 0.74, 95%CI 0.57, 0.96) and second (adjusted OR [aOR] 0.40, 95%CI 0.30, 0.55) but not third trimester. Similar association between higher GWG rate during the second trimester and a decreased risk of SGA were observed among women with inadequate (< 12.5 kg) and adequate/excessive (≥12.5 kg) total GWG, respectively. Compared to women with adequate GWG rate, women with inadequate GWG rate during the second trimester had a significantly increased risk of SGA (aOR 1.58, 95% CI 1.14, 2.20).

Conclusions
Second-trimester GWG might be the key driver for the association between inadequate GWG and increased risk of SGA births in underweight women.