bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evaluation of TNF-α genetic polymorphisms as predictors for sepsis susceptibility and progression
Authors: Georgescu Anca Meda , Banescu Claudia , Azamfirei Razvan , Hutanu Adina , Moldovan Valeriu , Badea Iudita , Voidazan Septimiu , Dobreanu Minodora , Chirtes Ioana Raluca , Azamfirei Leonard 
Published: March 2020

AbstractBackgroundThe goal of the study was to evaluate a potential role for tumor necrosis factor alpha (TNF-α) genetic variability as biomarker in sepsis. In particular, we aimed to determine if single nucleotide polymorphisms (SNPs) ofTNF-αgene are associated with sepsis in terms of risk, severity and outcome.MethodsWe performed a prospective study on 163 adult critically ill septic patients (septic shock 65, sepsis 98, further divided in 40 survivors and 123 deceased) and 232 healthy controls. Genotyping ofTNF-αSNPs (-308G/A, -238G/A, -376G/A and +489G/A) was performed for all patients and controls and plasma cytokine levels were measured during the first 24 h after sepsis onset.ResultsTNF-α +489G/A A-allele carriage was associated with significantly lower risk of developing sepsis and sepsis shock (AA+AG vs GG: OR = 0.53;p = 0.004; 95% CI = 0.34–0.82 and OR = 0.39;p = 0.003; 95% CI = 0.21–0.74, respectively) but not with sepsis-related outcomes. There was no significant association between any of the otherTNF-αpromoter SNPs, or their haplotype frequencies and sepsis or septic shock risk. Circulating TNF-α levels were higher in septic shock; they were not correlated with SNP genotype distribution; GG homozygosity for each polymorphism was correlated with higher TNF-α levels in septic shock.ConclusionsTNF-α +489G/A SNP A-allele carriage may confer protection against sepsis and septic shock development but apparently does not influence sepsis-related mortality. PromoterTNF-αSNPs did not affect transcription and were not associated with distinct sepsis, septic shock risk or outcomes.
Forecasting incidence of infectious diarrhea using random forest in Jiangsu Province, China
Authors: Fang Xinyu , Liu Wendong , Ai Jing , He Mike , Wu Ying , Shi Yingying , Shen Wenqi , Bao Changjun 
Published: March 2020

Abstract
Background
Infectious diarrhea can lead to a considerable global disease burden. Thus, the accurate prediction of an infectious diarrhea epidemic is crucial for public health authorities. This study was aimed at developing an optimal random forest (RF) model, considering meteorological factors used to predict an incidence of infectious diarrhea in Jiangsu Province, China.

Methods
An RF model was developed and compared with classical autoregressive integrated moving average (ARIMA)/X models. Morbidity and meteorological data from 2012 to 2016 were used to construct the models and the data from 2017 were used for testing.

Results
The RF model considered atmospheric pressure, precipitation, relative humidity, and their lagged terms, as well as 1–4 week lag morbidity and time variable as the predictors. Meanwhile, a univariate model ARIMA (1,0,1)(1,0,0)52 (AIC = − 575.92, BIC = − 558.14) and a multivariable model ARIMAX (1,0,1)(1,0,0)52 with 0–1 week lag precipitation (AIC = − 578.58, BIC = − 578.13) were developed as benchmarks. The RF model outperformed the ARIMA/X models with a mean absolute percentage error (MAPE) of approximately 20%. The performance of the ARIMAX model was comparable to that of the ARIMA model with a MAPE reaching approximately 30%.

Conclusions
The RF model fitted the dynamic nature of an infectious diarrhea epidemic well and delivered an ideal prediction accuracy. It comprehensively combined the synchronous and lagged effects of meteorological factors; it also integrated the autocorrelation and seasonality of the morbidity. The RF model can be used to predict the epidemic level and has a high potential for practical implementation.
Human infection caused by Streptococcus suis serotype 2 in China: report of two cases and epidemic distribution based on sequence type
Authors: Jiang Fei , Guo Jingjing , Cheng Chen , Gu Bing 
Published: March 2020

Abstract
Background
Streptococcus suis is a zoonotic pathogen that causes serious systemic infections in pigs and occupation-related infections in humans who contact with pigs or pork products. In China, it has caused two outbreaks of human infection and surveillance for S.suis has been ongoing since last time.

Case presentation
Two cases of meningitis and sepsis caused by S. suis were reported in this study. Both patients work in relation to the pork trade, a risk factor for S. suis infection. The outcome was favorable after a prolonged ceftriaxone therapy but one patient was left with mild hearing loss. Two isolates were identified as sequencing type (ST) 7, S. suis serotype 2 (SS2), which is one the most prevalent and cause two outbreaks in China. Whole-genome sequencing (WGS) revealed that a high degree identity was noted in the genome organizations and sequences between two sporadic ST7 SS2 isolates in this study and representative epidemic virulent isolates. Major differences among them are two sporadic ST7 SS2 isolates lacked a virulence factor called agglutinin receptor and an 89 K pathogenicity island (PAI), which plays important role in the pathogenesis of streptococcal toxic shock syndrome (STSS). A summary about STs of human infection with S. suis in China was completed. The result showed ST1 and ST7 were still the major STs and several novel STs were successfully discovered in different provinces.

Conclusions
Our results enhanced the understanding of the ability to cause life-threatening infections in humans and the distribution and evolution of the S. suis in China.
Analysis of the causes of cervical lymphadenopathy using fine-needle aspiration cytology combining cell block in Chinese patients with and without HIV infection
Authors: Sun Lei , Zhang Liang , Yang Kun , Chen Xiang-mei , Chen Jia-min , Xiao Jiang , Zhao Hong-xin , Ma Zhi-yuan , Qi Li-ming , Wang Peng 
Published: March 2020

Abstract
Background
Cervical lymphadenopathy refers to a frequently observed clinical presentation in numerous pathological conditions. A wide spectrum of diseases can cause cervical lymphadenopathy, irrespective of the fact that the patients are infected with HIV or not. The present study focuses on validating whether the causes of cervical lymphadenopathy differ significantly in HIV and non-HIV patients by using fine-needle aspiration cytology (FNAC) combining cell block.

Methods
A total of 589 patients with cervical lymphadenopathy were recruited in the FNA clinic. The samples were obtained by an auto-vacuumed syringe that benefited the sampling more materials. The cytological smears were prepared by Hematoxylin and Eosin (HE), Periodic Acid Schiff (PAS), Gomori’s methenamine silver (GMS) and acid-fast staining. Cell blocks were made if required, and immunohistochemistry stain was performed on the cell block section.

Results
The study found 453 (76.9%) patients with HIV and 136 (23.1%) patients without HIV infection. The average age of HIV-infected patients was 34.8 ± 10.2 years, which was significantly lower than that of non-HIV-infected patients (42.9 ± 18.1 years) (p < 0.01). Of all patients infected with HIV, 390 (86.1%) were males. This proportion was significantly higher than that of non-HIV-infected patients [65/136 (47.8%)] (p < 0.01). The major causes of cervical lymphadenopathy in HIV positive patients were mycobacterial infection (38.4%), reactive hyperplasia (28.9%), non-specific inflammation (19.9%), and malignant lesions (4.2%). In contrast, the most common causes in HIV negative patients were reactive hyperplasia (37.5%), malignancy (20.6%), non-specific inflammation (19.1%) and mycobacterial infection (12.5%). Opportunistic infections such as non-tuberculous mycobacteria (4.2%), cryptococcosis (1.5%), Talaromyces marneffei (1.5%) and other fungi (0.4%) were found only in HIV-infected individuals. Non-Hodgkin’s lymphoma (2.4%) was the most common malignant lesion in patients with HIV infection, followed by Kaposi’s sarcoma (0.9%) and metastatic squamous cell carcinomas (0.7%). However, the most common malignancy in non-HIV-infected patients was metastatic carcinomas (14%) including small cell carcinomas, adenocarcinomas, squamous cell carcinomas and hepatocellular carcinoma, which were noticeably greater than the HIV patients (p < 0.01).

Conclusions
There were significantly different causes of cervical lymphadenopathy in HIV infected and non-HIV infected patients. FNAC was a useful diagnostic method for differential diagnosis of cervical lymphadenopathy.
Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report
Authors: Ruan Wen-Cong , Wang Jia , Yu Yong-Lin , Che Yue-Ping , Ding Li , Li Chen-Xi , Wang Xiao-Dong , Li Hai-Feng 
Published: March 2020

Abstract
Introduction
The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia-47(SPG47).

Case presentation
Here we present a Chinese patient with spastic tetraplegia, moderate psychomotor development delay and febrile seizures plus. Brain MRIs showed dilated supratentorial ventricle, thin posterior and splenium part of corpus callosum. The patient had little progress through medical treatments and rehabilitating regimens. Whole exome sequencing identified novel compound heterozygous truncating variants c.1207C > T (p.Gln403*) and c.52_53delAC (p.Cys18Glnfs*7) in AP4B1 gene. Causal mutations in AP4B1 have been reported in 29 individuals from 22 families so far, most of which are homozygous mutations.

Conclusions
Our study enriched the genetic and phenotypic spectrum of SPG47. Early discovery, diagnosis and proper treatment on the conditions generally increase chances of improvement on the quality of life for patients.
Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature
Authors: Balsamo Flávia , Cardoso Pedro Augusto Soffner , do Amaral Junior Sergio Aparecido , Theodoro Therésè Rachell , de Sousa Gehrke Flavia , da Silva Pinhal Maria Aparecida , Bianco Bianca , Waisberg Jaques 
Published: March 2020

Abstract
Background
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal cell carcinoma. The diagnosis is confirmed by the presence of a pathogenic variant in the tumor suppressor folliculin (FLCN) gene mapped at 17p11.2. Although the dermatological lesions typical of BHDS are benign and only cause aesthetic concerns, and the pulmonary manifestations are controllable, the greater tendency of patients with this syndrome to present benign or malignant renal tumors, often bilateral and multifocal, makes the diagnosis of this syndrome important for the prognosis of the patients. The objective was to report the case of a patient with BHDS, without pulmonary manifestations and with hyperplastic polyposis of the gastrointestinal tract, and to perform a literature review.

Case presentation
A 60-year-old man complained of abdominal pain and diarrhoea for 2 months. Physical examination was normal except for the presence of normochromic papules in the frontal region of the face associated with hyperkeratotic and hyperchromic papules in the dorsal region. The excisional biopsies of the skin lesions indicated trichodiscomas. Esophagogastroduodenoscopy, enteroscopy, and colonoscopy showed the presence of hyperplastic polyps in the stomach, duodenum, jejunum, colon, and rectum. Computed tomography (CT) and magnetic resonance imaging (MRI) of the abdomen revealed multiple expansive solid lesions in both kidneys, with necrotic and calcified areas. Renal magnetic resonance angiography also showed a solid lesion in the right kidney measuring 5 cm in diameter and another solid lesion in the left kidney measuring 8 cm in diameter, both suggestive of renal angiomyolipoma. CT scans of the skull, chest, and temporal bones were normal. The genetic study revealed the presence of a variant of FLCN in the intron 13.

Conclusions
To the best of our knowledge, this is the first reported case of BHDS with the simultaneous finding of gastrointestinal hyperplastic polyposis, which may represent a possible phenotypic expression of this syndrome that has not yet been described.
SLC1A3 C3590T but not BDNF G196A is a predisposition factor for stress as well as depression, in an adolescent eastern Indian population
Authors: Ghosh Madhumita , Ali Akhtar , Joshi Shobhna , Srivastava Adya Shankar , Tapadia Madhu G. 
Published: March 2020

Abstract
Background
Adolescence is a distinctive stage of various changes and is noted as peak age for onset of many psychiatric disorders, especially linked to stress and depression. Several genetic variations are being increasingly known to be linked with stress and depression. The polymorphisms in two such genes, the BDNF and SLC1A3, have been reported to be linked with either depression/stress or with suicidal behaviour. These genes have not been validated in Indian population, and therefore there is a need to investigate these genes in Indian population. The present study was undertaken to test whether the known polymorphisms SLC1A3 C3590T, SLC1A3 C869G and BDNF G196A are associated or not with stress or depression in an eastern Indian population.

Methods
A case-control association study was performed with 108 cases having variable levels of stress and depression and 205 matched controls. Detection of stress and depression was done by using standard instruments as PSS and CES-D, respectively and demographic profile was obtained for each individual on the basis of personal data sheet. Genotyping for the selected polymorphisms was performed by PCR followed by restriction digestion.

Results
The SNP SLC1A3 C3590T was found to be associated with stress and depression (p = 0.0042, OR = 2.072). Therefore, the T allele increases the risk by more than two folds for stress and depression in the present population. The other allele of SLC1A3, G869C, as well as BDNF G196A were not associated with stress or depression in the population studied.

Conclusion
SLC1A3 C3590T is a predisposition factor for stress and depression in an eastern Indian population, whereas SLC1A3 G869C and BDNF G196A were not found to be a risk factor. Therefore, presence of T allele of SLC1A3 C3590T, may predict the development of stress and depression in an individual. This may also help in the understanding of pathophysiology of the disease. However, these findings warrant a wider study in Indian populations and would be of significance in understanding the predisposition of stress and depression in this population.
The relative importance of frailty, physical and cardiovascular function as exercise-modifiable predictors of falls in haemodialysis patients: a prospective cohort study
Authors: Zanotto Tobia , Mercer Thomas H. , van der Linden Marietta L. , Rush Robert , Traynor Jamie P. , Petrie Colin J. , Doyle Arthur , Chalmers Karen , Allan Nicola , Shilliday Ilona , Koufaki Pelagia 
Published: March 2020

Abstract
Background
Stage 5 chronic kidney disease (CKD-5) patients on haemodialysis (HD) are at high risk of accidental falls. Previous research has shown that frailty is one of the primary contributors to the increased risk of falling in this clinical population. However, HD patients often present with abnormalities of cardiovascular function such as baroreflex impairment and orthostatic dysregulation of blood pressure (BP) which may also be implicated in the aetiology of falling. Therefore, we aimed to explore the relative importance of frailty and cardiovascular function as potential exercise-modifiable predictors of falls in these patients.

Methods
Ninety-three prevalent CKD-5 patients on HD from three Renal Units were recruited for this prospective cohort study, which was conducted between October 2015 and August 2018. At baseline, frailty status was assessed using the Fried’s frailty phenotype, while physical function was evaluated through timed up and go (TUG), five repetitions chair sit-to-stand (CSTS-5), objectively measured physical activity, and maximal voluntary isometric strength. Baroreflex and haemodynamic function at rest and in response to a 60° head-up tilt test (HUT-60°) were also assessed by means of the Task Force Monitor. The number of falls experienced was recorded once a month during 12 months of follow-up.

Results
In univariate negative binomial regression analysis, frailty (RR: 4.10, 95%CI: 1.60–10.51, p = 0.003) and other physical function determinants were associated with a higher number of falls. In multivariate analysis however, only worse baroreflex function (RR: 0.96, 95%CI: 0.94–0.99, p = 0.004), and orthostatic decrements of BP to HUT-60° (RR: 0.93, 95%CI: 0.87–0.99, p = 0.033) remained significantly associated with a greater number of falls. Eighty falls were recorded during the study period and the majority of them (41.3%) were precipitated by dizziness symptoms, as reported by participants.

Conclusions
This prospective study indicates that cardiovascular mechanisms implicated in the short-term regulation of BP showed a greater relative importance than frailty in predicting falls in CKD-5 patients on HD. A high number of falls appeared to be mediated by a degree of cardiovascular dysregulation, as evidenced by the predominance of self-reported dizziness symptoms.

Trial registration
ClinicalTrials.gov (trial registration ID: NCT02392299; date of registration: March 18, 2015).
Rapid formation and rupture of an infectious basilar artery aneurysm from meningitis following suprasellar region meningioma removal: a case report
Authors: Wang Xu , Chen Ge , Li Mingchu , Liang Jiantao , Guo Hongchuan , Song Gang , Bao Yuhai 
Published: March 2020

Abstract
Background
Infectious basilar artery (BA) aneurysm has been occasionally reported to be generated from meningitis following transcranial operation. However, infectious BA aneurysm formed by intracranial infection after endoscopic endonasal operation has never been reported.

Case presentation
A 53-year-old man who was diagnosed with suprasellar region meningioma received tumor removal via endoscopic endonasal approach. After operation he developed cerebrospinal fluid (CSF) leak and intracranial infection. The patient ultimately recovered from infection after anti-infective therapy, but a large fusiform BA aneurysm was still formed and ruptured in a short time. Interventional and surgical measures were impossible due to the complicated shape and location of aneurysm and state of his endangerment, therefore, conservative anti-infective therapy was adopted as the only feasible method. Unfortunately, the aneurysm did not disappear and the patient finally died from repeating subarachnoid hemorrhage (SAH).

Conclusion
Though extremely rare, it was emphasized that infectious aneurysm can be formed at any stage after transnasal surgery, even when the meningitis is cured. Because of the treatment difficulty and poor prognosis, it was recommended that thorough examination should be timely performed for suspicious patient to make correct diagnosis and avoid fatal SAH.
Potential health risk assessment of toxic metals contamination in clay eaten as pica (geophagia) among pregnant women of Ho in the Volta Region of Ghana
Authors: Kortei Nii Korley , Koryo-Dabrah Alice , Akonor Papa Toah , Manaphraim Nana Yaw Barimah , Ayim-Akonor Matilda , Boadi Nathaniel Owusu , Essuman Edward Ken , Tettey Clement 
Published: March 2020

Abstract
Introduction
Geophagia although pleasurable and somewhat a necessity among pregnant women, also comes along with its own attendant problems such as exposure to potentially hazardous substances like bacteria, fungi, helminthes and ova, radioactive materials, and toxic elemental minerals in the soil depending on the geographical location.

Methodology
This study evaluated the potential health risk involved during the exposure of pregnant women to toxic elemental minerals via the consumption of clay as pica (geophagia). Elemental mineral analysis was carried out using Buck Scientific 210VGP Flame Atomic Absorption Spectrophotometer (Buck Scientific, Inc. East Norwalk, USA). Risk assessment methods were also used to ascertain the various risks factors and the overall risk level.

Results
Concentrations of the macro elements investigated were 1.38 ± 1.5, 2.40 ± 1.5, 7.74 ± 1.5, 4.01 ± 1.0, 13.24 ± 2.2 and 13.76 ± 2.1 mg/Kg for iron (Fe), copper (Cu), zinc (Zn), potassium (K), magnesium (Mg) and sodium (Na) respectively. While that for the micro elements were 1.63 ± 0.03 μg/Kg, 4.72 ± 0.8, 0.53 ± 0.02 and 1.85 ± 0.3 mg/kg respectively for arsenic (As), manganese (Mn), lead (Pb) and nickel (Ni). Estimated Daily Intake (EDI), Hazard Quotient (HQ), Target Hazard Quotient (THQ) and Total Target Hazard Quotient (TTHQ) values ranged 0.611–5.44 (mg/kg Bw/day), 6.26 × 10− 4 – 106.5, 0.067–10.34 and 15 respectively.

Conclusion
There is the likelihood of posing adverse health problems when clay samples obtained from Anfoega which is sited in the Volta region of Ghana is consumed due to the fact that the HQ’s of these elemental minerals were > 1 which points to high content of Manganese (Mn) and Nickel (Ni). It is also likely to cause adverse health problems in an individual’s life time since THQ for Arsenic, Lead and Nickel were above 1. Ultimately, the cumulative effect of these toxicants were exceedingly great (≤ 15) which implied a high level of unsafety associated with this clay. Per the results from this study, it is not safe for pregnant women to consume clay as pica since these toxic elements may cause detrimental effects on the foetus of the unborn child.
Early diagnostic test for acute fatty liver of pregnancy: a retrospective case control study
Authors: Zhong Yan , Zhu Fufan , Ding Yiling 
Published: March 2020

Abstract
Background
Early diagnosis is important to lower the mortality rate of acute fatty liver of pregnancy (AFLP). The Swansea criteria is commonly used to diagnose AFLP, but some terms could only be reached when symptoms and signs have progressed, or are not efficient in clinical practice. Therefore, it is necessary to select cost effective tests to simplify and facilitate early suspicion of acute fatty liver of pregnancy.

Methods
This is a retrospective study of 28,800 medical records at the Second Xiangya Hospital from 2009 to 2015, including 41 patients with AFLP and 172 other diseases that could show similar symptoms to AFLP. The evaluated variables included past history of liver diseases, blood pressure, gastrointestinal symptoms, blood count, liver function test, coagulation function test and blood sugar test. The sensitivity, specificity, positive predict value and negative predict value were calculated for models in diagnosing AFLP.

Results
The significant variables associated with AFLP included gastrointestinal symptoms, blood pressure > 140/90 mmHg, aminotransferase> 42 IU/l, total bilirubin> 0.8 mg/dl, total bilirubin acid> 10.0 μmol/L, activated partial prothrombin time(APTT) > 34 s, prothrombin time(PT) > 14 s, white blood cells> 11 *106/l and blood sugar< 72 mg/dl. Gastrointestinal symptoms +aminotransferase +bilirubin +bile acid +APTT/PT showed 97.6% sensitivity and 97.1% specificity to diagnose AFLP. Adding blood pressure, blood sugar or white blood cells decreased the accuracy of the statistical model.

Conclusions
Application of a statistical model including maternal symptoms, biochemical and haematological parameters has high diagnostic accuracy for earlier identification of AFLP. However, this finding needs to be tested in another cohort to determine whether this statistical model has the same performance.