bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial hemophagocytic lymphohistiocytosis in a girl with a novel homozygous mutation of STX11
Authors: Guo Xia , Jiang Mingyan , Tang Xue , Li Qiang 
Published: November 2019

AbstractRationale:Familial hemophagocytic lymphohistiocytosis (FHL) is a rare fatal autosomal recessively inherited disease and can be divided into five types. The mortality of untreated patients is up to 95% and it can be healed only after immunochemotherapy for disease control and hematopoietic stem cell transplantation. Clinical data of a girl with late-onset and recurrent hemophagocytic lymphohistiocytosis (HLH) was retrospectively analyzed to determine the etiology and potential pathogenic gene.Patient concerns and clinical findings:The proband was a female child patient from a consanguineous marriage family who was 11 years old, and clinically manifested delayed (onset at the age of 4 years and 6 months) and recrudescent HLH. Both of her elder brothers died at the ages of 4 and 5 years, respectively. The patient had a degranulation function defect of CD107a in natural killer (NK) cells, and the degranulation function of cytotoxic T lymphocytes (CTL) obviously declined (ΔMFI: 1.4%, normal ≧2.8%); the degranulation function of NK cells and CTL of her father was also obviously reduced. To identify possible underlying genetic causes, gene mutation analysis was undertaken. A novel homozygous nonsense mutation inSTX11(c.49C>T, p.Q17X) was documented, arising from both her parents.Diagnosis:According to the clinical manifestations and detection results ofSTX11, the diagnosis of FHL-type 4 was confirmed and her parents were heterozygotic carriers.Interventions and outcomes:Good responses to HLH-2004 chemotherapy had been achieved for each onset, and the maximum remission duration (without taking any drug) was 23 months. The patient has been alive for 82 months since the onset, and has stopped taking dexamethasone and etoposide, but is still on oral cyclosporine to maintain the treatment. She has performed HLA matching and now is actively looking for a donor to prepare hematopoietic stem cell transplantation.Conclusions:Relevant gene detections should be implemented at the earliest for young patients from consanguineous marriages and with a family history of HLH so as to provide a basis for etiological diagnosis and radical treatment by hematopoietic stem cell transplantation and provide accurate genetic counseling for family members.
Atypical manifestations of cardiomegaly and nephrotic syndrome in Kawasaki disease
Authors: Wang Liyuan , Sun Xiaomei , Cai Xiaotang , Liu Shunli , Wang Zhiling , Xie Yongmei 
Published: November 2019

Abstract

Rationale:
To examine atypical manifestations of Kawasaki disease (KD) in children.

Background:
Cardiovascular complications during acute KD are a major contributor to its mortality rate. It can involve the pericardium, the myocardium, the endocardium, and/or the coronary arteries; however, cardiomegaly and nephrotic syndrome (NS) during the acute stage of KD have seldom been reported.

Patient concerns:
Two children, each with a fever lasting more than 5 days, were diagnosed with cardiomegaly using echocardiography in the early phase of Kawasaki disease (within 2 weeks). Case 1 was misdiagnosed with NS because of the proteinuria, hypoalbuminemia, and edema present at the onset of the disease.

Diagnoses:
A diagnosis of incomplete KD was based on a constellation of clinical manifestations and symptoms and was supported by laboratory results.

Interventions:
Intravenous immunoglobulin (IVIG) and aspirin were administered, supplemented with and without supplemental steroid therapy (case dependent).

Outcomes:
The clinical manifestations and syndromes of the two cases were completely resolved and their heart size restored to normal within 2 weeks, with no evidence of coronary artery lesions (CAL).

Main lessons:
Physical findings and manifestations are atypical in incomplete KD. Cardiomegaly and nephrotic syndrome can be an early manifestation of KD; cardiomegaly, especially, should be recognized as a possible manifestation of the acute stage of KD. Furthermore, these symptoms can be rapidly relieved by treatment with IVIG, with or without supplemental steroid therapy.
Repeated and progressive rhabdomyolysis due to a novel carnitine palmitoyltransferase II gene variant in an adult male
Authors: Shao Lina , Liu Chunya , Xu Liyuan , Yu Rizhen , Li Yiwen , Chen Maosheng , He Qiang 
Published: November 2019

Abstract

Introduction:
The occurrence of repeated and progressive rhabdomyolysis is rare in clinical settings, particularly in adults. The pathogenesis of rhabdomyolysis is often overlooked due to its rapid recovery. Carnitine palmitoyltransferase (CPT) II deficiency could be a rare etiology of repetitive nontraumatic rhabdomyolysis, and several mutations of CPT II have been reported.

Patient concerns:
A 41-year-old man presented with high fever, general malaise, myalgia, dyspnea, and dark-colored urine, and then progressed to anuria. In the past 15 years, he experienced dark-colored urine twice due to exercise and high fever. Physical examination revealed oliguria, suppurated tonsils, poor hemoglobin saturation, alert consciousness, normal neurological signs and reflexes, hypertension, and tachypnea. Laboratory investigations showed positive test results for inflammation, high serum myogenic enzyme levels, and evidence of acute kidney injury (AKI).

Diagnoses:
Investigations revealed an extremely high serum myogenic enzyme levels and impaired renal function with serum creatinine level of 510 μmol/L, consistent with the diagnosis of rhabdomyolysis, AKI stage 3, and acute respiratory distress syndrome. High levels of acylcarnitine in the serum confirmed the diagnosis of CPT II deficiency. In addition, whole exome sequencing (WES) was conducted in the patient and his mother.

Interventions:
Intubation, ventilator support, and hemodialysis were the major therapeutic interventions at the peak of disease progression. He was then administered valsartan tablets at a dosage of 80 mg per day and L-carnitine supplements.

Outcomes:
WES conducted in the patient and his mother revealed 2 novel mutations of CPT II (c.482G>A and c.1493G>T) in this patient. The patient recovered from the severe AKI but the renal function remained impaired at chronic kidney disease stage 3a.

Conclusion:
Thus, gene examination can help to understand the etiology of repetitive nontraumatic rhabdomyolysis. Accurate diagnosis can be beneficial for providing an individualized treatment for patients with repeated and progressive rhabdomyolysis.
Effectiveness and safety of hypotensive resuscitation in traumatic hemorrhagic shock
Authors: Wang Hua , Chen Mao-Bing , Zheng Xu-Wen , Zheng Qi-Han 
Published: November 2019

Abstract

Background:
Hypotensive resuscitation is an old study. But its benefits and losses are still controversial. In clinic, the method of fluid resuscitation needs more reliable experimental evidence. This study's objective is to systematically evaluate the efficacy of hypotensive resuscitation in patients with traumatic hemorrhagic shock.

Methods and analysis:
Through October 2019, Web of Science, PubMed, the Cochrane Library, EMBASE, and Clinical Trials will be systematically searched to identify randomized controlled trials exploring the efficacy of hypotensive resuscitation in traumatic hemorrhagic shock. Strict screening and quality evaluation will be independently performed on the obtained literature by 2 researchers; outcome indexes will be extracted, and a meta-analysis will be performed on the data using Revman 5.3 software.

Ethics and dissemination:
The stronger evidence about the efficacy of hypotensive resuscitation in traumatic hemorrhagic shock will be provided for clinicians.

Trial registration number:
PROSPERO CRD42019133169.

Strengths of this study:
This study is not only a simple combination of data, but also to verify and discuss the reliability of the results, and provide more convincing evidence for clinicians.

Limitations of this study:
Firstly, according to the previous literature researching, it is found that the number of relevant randomized controlled trials is small and the quality level of the literature is uneven. Secondly, the efficacy of hypotensive resuscitation is discussed for a long time, different trials may take place at different times. Comparability between different trials is reduced.
Acute tubulointerstitial nephritis with germinal centers in antineutrophil cytoplasmic antibody-associated vasculitis
Authors: Lin Zi-Shan , Liu Xiao-Ling , Cui Zhao , Wang Su-Xia , Yu Feng , Zhou Fu-De , Zhao Ming-Hui 
Published: November 2019

AbstractRationale:Occasionally, tubulointerstitial lesions can be found in antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). However, significantly isolated tubulointerstitial nephritis (TIN) with germinal centers is rare.Patient concerns:A 17-year-old Chinese Han patient showed rapidly progressive glomerulonephritis, anuria, and serum creatinine of 19.4 mg/dL.Diagnosis:He had positive ANCA targeting myeloperoxidase (55.0 RU/mL). The renal biopsy showed crescent formation in 100% of glomeruli. Of special note, the glomerular crescents were surrounded by granulomatous inflammation, extensive tubular destruction or disappearance, and massive interstitial infiltration. A diagnosis of AAV was thus made with the involved organ restricted to the kidney.Interventions:The patient underwent 7 rounds of plasmapheresis, 3 pulses of methylprednisolone therapy (500 mg per pulse), and oral prednisolone (50 mg/d). Rituximab (500 mg) was used after the plasma exchange treatment.Outcomes:ANCA was negative, while anti-modified C-reactive protein (anti-mCRP) antibodies remained positive. The patient was dependent on hemodialysis. We found anti-mCRP antibody in the serum of the patient, with the major epitope on amino acids 35 to 47 of mCRP.Lessons:We proposed that the anti-mCRP antibody might play an important role in this case of acute TIN in AAV.
Concomitant occurrence of clinoid and cavernous segment aneurysms complicated with carotid cavernous fistula
Authors: Ting Wang , Richard Seidu A. , Changwei Zhang , Chaohua Wang , Xiaodong Xie 
Published: November 2019

Abstract

Rationale:
Dual aneurysms arising from the internal cerotic artery (ICA) is a very rare occurrence. Clinoid segment aneurysms (CSAs) are often seen at the carotid dural rings while cavernous carotid aneurysms (CCAs) are often a direct communication between the ICA and the cavernous sinus (CS). We present a case of complex concomitant occurrence of a CSA and a CCA complicated with delay aneurysmal rupture (DAR) resulting in carotid cavernous fistula (CCF) after our initial treatment of the patient with pipeline embolization devices (PLEDs)

Patient Concerns:
We present a 64-year old female who we admitted at our institution due to one-year history of double vision. Neurological examinations were unremarkable.

Diagnosis:
Magnetic resonance imaging (MRI) and computer tomography (CT)-scan revealed dual aneurysms on the ICA. Digital subtracting angiogram (DSA) confirmed a small CSA and a large CCA on the right ICA.

Interventions:
We treated both aneurysms with PLED and subsequently observed DAR of CCA as a complication.

Outcomes:
We successfully occluded the fistula with ONYX (ev3, Irvine, CA) via the trans-venous approach.

Lesions:
PLED was the best endovascular treatment option though DAR was inevitable. Although the trans-arterial approach may be the gold standard for the managing of CCF, the complex nature of our case made us opt for trans-venous approach. The trans-venous route is very appropriate for fistulas with complex parent arteries.
Entrapment of the extensor pollicis longus tendon in a pediatric Smith fracture
Authors: Lee Yoon Min , Kim Yun Hwan , Kim Yuna , Sur Yoo Joon 
Published: November 2019

Abstract

Rationale:
Most pediatric distal radius fractures are effectively treated nonoperatively; however, operative intervention is indicated in patients with open and highly unstable fractures, in those with concomitant neurovascular injuries and in patients whom soft tissue interposition between fracture fragments precludes anatomical reduction. Notably, soft tissue interposition between fracture fragments is diagnostically challenging. Surgeons must be mindful of this rare complication for early detection and prompt treatment.

Patient concerns:
A 14-year-old boy presented to the emergency department with left wrist pain after falling from a bicycle. Plain radiography and computed tomography revealed a displaced Smith fracture, which was irreducible by closed reduction, necessitating open reduction and volar plate fixation. The patient reported inability to extend his thumb at his 6-week postoperative follow-up visit.

Diagnosis:
Ultrasonography showed extensor pollicis longus (EPL) tendon entrapment near the fracture site.

Interventions:
A second operation was performed 10 weeks after the first surgery, and intraoperative exploration revealed EPL tendon entrapment. The EPL tendon was torn to shreds; therefore, extensor indicis proprius tendon transfer was performed for EPL tendon reconstruction.

Outcomes:
The patient's thumb motion was completely restored after the second operation.

Lessens:
EPL tendon entrapment in a pediatric Smith fracture is rare. Signs of EPL tendon entrapment include inability to perform active thumb extension, dorsal wrist pain radiating along the course of the EPL tendon, which is exacerbated by thumb flexion, a tenodesis effect elicited on thumb examination, and difficulty in anatomical fracture reduction. Surgical exploration of the EPL tendon is warranted in patients presenting with any of these signs following attempted reduction of a Smith fracture.
Propofol vs desflurane on the cytokine, matrix metalloproteinase-9, and heme oxygenase-1 response during living donor liver transplantation
Authors: Wu Zhi-Fu , Lin Wei-Lin , Lee Meei-Shyuan , Hung Nan-Kai , Huang Yuan-Shiou , Chen Teng-Wei , Lu Chueng-He 
Published: November 2019

Abstract

Background:
We investigated the effects of propofol vs desflurane on ischemia and reperfusion injury (IRI)-induced inflammatory responses, especially in matrix metalloproteinase-9 (MMP-9) downregulation and heme oxygenase-1 (HO-1) upregulation, which may result in different clinical outcomes in liver transplant recipients.

Methods:
Fifty liver transplant recipients were randomized to receive propofol-based total intravenous anesthesia (TIVA group, n = 25) or desflurane anesthesia (DES group, n = 25). We then measured the following: perioperative serum cytokine concentrations (interleukin 1 receptor antagonist [IL-1RA], IL-6, IL-8, and IL-10); MMP-9 and HO-1 mRNA expression levels at predefined intervals. Further, postoperative outcomes were compared between the 2 groups.

Results:
The TIVA group showed a significant HO-1 level increase following the anhepatic phase and a significant MMP-9 reduction after reperfusion, in addition to a significant increase in IL-10 levels after the anhepatic phase and IL-1RA levels after reperfusion. Compared to DES patients, TIVA patients showed a faster return of the international normalized ratio to normal values, lower plasma alanine aminotransferase concentrations 24 hours after transplantation, and fewer patients developing acute lung injury. Moreover, compared with DES patients, TIVA patients showed a significant reduction in serum blood lactate levels. However, there were no differences in postoperative outcomes between the two groups.

Conclusion:
Propofol-based TIVA attenuated inflammatory response (elevated IL-1RA and IL-10 levels), downregulated MMP-9 response, and increased HO-1 expression with improved recovery of graft function and better microcirculation compared with desflurane anesthesia in liver transplant recipients.
Genetic testing for Alzheimer's disease: trends, challenges and ethical considerations
Authors: Rentería Miguel E. , Mitchell Brittany L. , de Lara Amaranta Manrique 
Published: November 2019

Purpose of review
Advances in personal genomics have made predictive genetic testing increasingly popular. The purpose of this review is to examine and summarize recent literature regarding the ethical concerns and considerations surrounding genetic testing for Alzheimer's disease.

Recent findings
Four basic bioethical principles can be applied in the context of genetic testing: autonomy, nonmaleficence, beneficence and justice. The concepts of clinical validity, clinical utility and personal utility are also necessary for the ethical deliberation of genetic testing for Alzheimer's disease. Ethical considerations can differ among three distinct settings present in the literature: research, clinical and direct-to-consumer services. Studies have found that the negative psychosocial impact of genetic test results on the individual is limited, but emphasize the importance of pre/posttesting genetic counselling.

Summary
The literature should ideally inform policy-making around genetic testing. There exists an urgent need for regulation, particularly in the direct-to-consumer (DTC) market, since interest for testing in this context is rapidly growing. Standardized protocols for disclosure should be developed, and there is a need to find ways to meet the growing need for genetic counselling. Importantly, comprehensive, evidence-based regulation requires that research be conducted in different contexts with more diverse participants.
Retrieval of a well-established skill is resistant to distraction: evidence from an implicit probabilistic sequence learning task
Authors: Vékony Teodóra , Török Lilla , Pedraza Felipe , Schipper Kate , Plèche Claire , Tóth László , Janacsek Karolina , Nemeth Dezso 
Published: November 2019

AbstractThe characteristics of acquiring new sequence information under dual-task situations have been extensively studied so far. Such a concurrent task has often been found to affect performance. In real life, however, we mostly perform a secondary task when the primary one is already well-acquired. The effect of a secondary task on the ability to retrieve well-established sequence representations remains elusive. The present study investigates whether accessing a well-acquired probabilistic sequence knowledge is affected by a concurrent task. Participants acquired non-adjacent regularities in a perceptual-motor implicit probabilistic sequence learning task. After a 24-hour offline period, participants were tested on the same sequence learning task under dual-task or single-task conditions. Here we show that although the secondary task significantly prolonged the overall reaction times in the primary task, the access to the previously learned probabilistic representations remained intact. Our results highlight the importance of studying the dual-task effect not only in the learning phase but also during memory access.
Tau deposition is associated with imaging patterns of tissue calcification in the P301L mouse model of human tauopathy
Authors: Ni Ruiqing , Zarb Yvette , Kuhn Gisela A. , Müller Ralph , Yundung Yankey , Nitsch Roger M. , Kulic Luka , Keller Annika , Klohs Jan 
Published: November 2019

AbstractBrain calcification is associated with several neurodegenerative proteinopathies. Here, we report a new phenotype of intracranial calcification in transgenic P301L mice overexpressing 4 repeat tau. P301L mice (Thy1.2) of 3, 5, 9 and 18-25 months-of-age and age-matched non-transgenic littermates were assessed using in vivo/ex vivo magnetic resonance imaging (MRI) with a gradient recalled echo sequence and micro computed tomography (μCT). Susceptibility weighted images computed from the gradient recalled echo data revealed regional hypointensities in the hippocampus, cortex, caudate nucleus and thalamus of P301L mice, which in corresponding phase images indicated diamagnetic lesions. Concomitantly, µCT detected hyperdense lesions. Occurrence of diamagnetic susceptibility lesions in the hippocampus, increased with age. Immunochemical staining of brain sections revealed bone protein-positive deposits. Furthermore, intra-neuronal and vessel-associated protein-containing nodules co-localized with phosphorylated-tau (AT8 and AT100) in the hippocampus. Protein-containing nodules were detected also in the thalamus in the absence of phosphorylated-tau deposition. In contrast, osteocalcin-containing nodules were vessel-associated, indicating ossified vessels, in the thalamus in absence of phosphorylated-tau. In summary, MRI and µCT demonstrated imaging pattern of intracranial calcification, concomitant with immunohistochemical evidence of formation of protein deposits containing bone proteins along with phosphorylated-tau in the P301L mouse model of human tauopathy. The P301L mouse model may thus serve as a future model to study the pathogenesis of brain calcifications in tauopathies.
hFUT1-based live cell assay to profile α1-2-fucosides enhanced influenza A virus infection
Authors: Hong Senlian , Grande Geramie , Yu Chenhua , Chapla Digantkumar G. , Reigh Natalie , Yang Yi , Izumori Ken , Moremen Kelley W. , Xie Jia , Wu Peng 
Published: November 2019

AbstractHost cell-surface glycans play critical roles in influenza A virus (IAV) infection ranging from modulation of IAV attachment to membrane fusion and host tropism. Approaches for quick and sensitive profiling of the viral avidity towards a specific type of host-cell glycan can contribute to the understanding of tropism switching among different strains of IAV. In this study, we developed a method based on chemoenzymatic glycan engineering to investigate the possible involvement of α1-2-fucosides in IAV infections. Using a truncated human fucosyltransferase 1 (hFuT1), we were able to create α1-2-linked fucosides in situ on the host cell surface to assess their influence on the host cell binding to IAV hemagglutinin and the susceptibility of host cells toward IAV induced killing. We discovered that the newly added α1-2-fucosides on host cells enhanced the infection of several human pandemic IVA subtypes. These findings suggest that glycan epitopes other than sialic aicds should be taken into consideration for assessing the human pandemic risk of this viral pathogen.