bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing
Authors: Lee Sook Joung , Choi Eunseok , Shin Soyoung , Park Joonhong 
Published: July 2020

Abstract

Rationale:
The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of disorders characterized by progressive proximal muscle weakness and have more than 30 different subtypes linked to specific gene loci, which manifest as highly overlapping and heterogeneous phenotypes.

Patient concerns:
A 59-year-old male presented for evaluation of progressive muscle weakness since his late twenties. When he was 38 years old, he had muscle weakness in the upper extremities and had a waddling gait, hyper lordosis of lower back, and anterior pelvic tilt. His gait disturbance and muscle weakness slowly progressed. When he was 55 years old, he could not walk at all and had to use a wheelchair for ambulation.

Diagnosis:
Next-generation sequencing using a custom target capture-based gene panel including specific genes responsible for muscular dystrophy was performed. As a result, the proband was genetically diagnosed as LGMD type 2B, carrying 2 compound heterozygous mutations (NM_003494.3:c.1663C>T, p.Arg555Trp; rs377735262 and NM_003494.3:c.2997G>T, p.Trp999Cys; rs28937581) of the DYSF gene.

Interventions:
Physical and occupational therapy were prescribed properly for the first time Bracing and assistive devices were adapted specifically to the patient's deficiencies to preserve mobility and function and prevent contractures.

Outcomes:
The patient with LGMD has periodic assessments of physical and occupational therapy for the prevention and management of comorbidities. However, in the 3 years after the gene panel sequencing diagnoses, his weakness was slowly progress and the patient still could not walk.

Lessons:
Gene panel sequencing allows for the correct recognition of different LGMD subtypes, improving timely treatment, management, and enrolment of molecularly diagnosed individuals in clinical trials.
Promoting breastfeeding in Chinese women undergoing cesarean section based on the health belief model
Authors: Hu Lei , Ding Tingting , Hu Juan , Luo Biru 
Published: July 2020

Abstract

Background:
The high rate of cesarean section is an important factor affecting breastfeeding in China. To improve the nation's current situation of breastfeeding, promoting breastfeeding in women undergoing cesarean section is essential.

Objective:
To explore the effects of health belief model-based interventions on breastfeeding knowledge, breastfeeding behaviors, and breastfeeding satisfaction of Chinese cesarean women.

Methods:
A total of 346 cesarean section women were enrolled in the randomized controlled trial conducted at a center in Chengdu, China, between July 1, 2018 and August 31, 2018. While the control group (n = 173) received conventional breastfeeding guidance only, the intervention group (n = 173) received additional interventions based on the health belief model. Questionnaires were distributed to assess breastfeeding knowledge, breastfeeding behavior, and breastfeeding satisfaction at discharge, 42 days postpartum, and 4 months postpartum, respectively.

Results:
At discharge from hospital, the breastfeeding knowledge score of the intervention group was higher than that of the control group (Z = −11.753, P < .001). The exclusive breastfeeding rates in the intervention group at the time of discharge, 42 days postpartum, and 4 months postpartum were 67.3%, 60.7%, and 52.9%, respectively, while those of the control group were 41.2%, 41.6%, and 40.4%, respectively. The differences were statistically significant (χ

2
= 23.353, P < .001; χ

2

= 11.853, P < .001; χ

2
= 4.805, P = .03). The breastfeeding satisfaction of the intervention group was also higher than the control group at the time of discharge, 42 days postpartum and 4 months postpartum (t = 4.955, P < .001; t = 3.051, P = .002; Z = −3.801, P < .001).

Conclusion:
The health belief model-based interventions can effectively increase breastfeeding knowledge for Chinese cesarean women and improve their breastfeeding behaviors and breastfeeding satisfaction within 4 months after delivery.

Clinical Trial Registration:
ChiCTR1900026006 <http://www.chictr.org.cn/usercenter.aspx>
Multiple hepatocellular adenomas associated with long-term administration of androgenic steroids for aplastic anemia
Authors: Wang Lixia , Wang Cong , Li Wei , Meng Fanyang , Li Yuying , Fan Hongqiong , Zhou Yanhua , Bharathi Gnana , Gao Sujun , Yang Yan 
Published: July 2020

Abstract

Introduction:
Anabolic steroids are widely administered to patients with aplastic anemia (AA) and are associated with numerous medical complications. To assist with future diagnoses, we report about a young boy with multiple hepatocellular adenomas (HAs) induced by long-term use of anabolic androgenic steroids (AAS) for AA and present a related literature review.

Patient concern:
A 15-year-old boy who was diagnosed with AA in 2011 had been treated with stanozolol (6 mg per day) and ciclosporin A (120–150 mg per day) for almost 4 years. He presented with epigastric pain and fever, and abdominal computed tomography showed a lesion of heterogenous density measuring 13.5 × 13.0 × 8.0 cm in the left hepatic lobe, which was initially misdiagnosed as a liver abscess.

Diagnosis:
The patient went into hemorrhagic shock twice after invasive manipulation that aimed at diagnosis and was finally diagnosed with HA using fine needle aspiration.

Interventions:
The patient discontinued AAS and only reserved ciclosporin A for AA treatment.

Outcomes:
Follow-up abdominal computed tomography performed 4 years after AAS discontinuation showed obvious regression of the hepatic lesions.

Conclusion:
It is of great importance for hematologists to completely understand that the long-term use of AAS may cause HA, which carries a great risk of hemorrhage and malignant transformation.
Relationship between the self-concept and physical activity towards the prevention of chronic illnesses
Authors: Duarte-Clíments Gonzalo , Sánchez-Gómez María Begoña , Palenzuela-Luis Natacha , González-Abreu Javier , Guzmán-Fernández Cristo Jesús , Ramos-Santana Sara , Gómez-Salgado Juan , Rodríguez-Gómez José Ángel , Romero-Martín Macarena 
Published: July 2020

Abstract
The objective of this work is to verify the relationship between the self-perception of health and the self-concept of physical appearance in adolescents, in order to check their influence on the physical activity they perform with the aim of preventing chronic illnesses. To this end, an observational, cross-sectional descriptive study with analytical components was carried out. Opportunistic activity, in which young people, between the ages of 16 and 22, were recruited from 5 secondary schools of the municipality of San Cristóbal de La Laguna, on the island of Tenerife (Spain). Data were collected through the General Health Questionnaire, the Rosemberg Self-esteem Scale, and the physical exercise habits test physical activity questionnaire for adolescents-A, revealing the first 2 that most percentage of responses were grouped on the positive side. The physical exercise habits test physical activity questionnaire for adolescents-A described that the most commonly performed physical activity was walking (75%).
Association of bone mineral density with peripheral blood cell counts and hemoglobin in Chinese postmenopausal women
Authors: Li Li , Ge Ji-Rong , Chen Juan , Ye Yun-Jin , Xu Peng-Chao , Li Jian-Yang 
Published: July 2020

Abstract
Osteoporosis (OP) is a metabolic bone disease that can cause structural changes in bone marrow cavity. Bone marrow is the hematopoietic organ of adults. Accumulating evidence has shown a close connection between bone marrow hematopoietic function and bone formation. Some studies have revealed that OP is associated with hematopoiesis. However, the relationship is not definite.
This study aimed to evaluate the association between peripheral blood cell counts (white blood cells [WBC], red blood cells [RBC], platelets [PLT]), hemoglobin [HGB], and bone mineral density [BMD]) in a sample of Chinese postmenopausal women. This is a retrospective study involving 673 postmenopausal women cases. The BMD of lumbar spine and left hip joint were measured by dual-energy X-ray absorptiometry. The levels of blood cell counts and HGB were measured and analyzed.
The study results showed the WBC, RBC, PLT, and HGB levels of postmenopausal women in the OP group were all higher than those in the non-osteoporosis group. Spearman linear trend analysis and partial correlation analysis demonstrated that BMD was negatively correlated with WBC, RBC, PLT, and HGB in postmenopausal women.
Due to the differences between different countries and races, and there are few studies on the association of BMD with peripheral blood cell counts and HGB in Chinese Postmenopausal Women. Therefore, more large sample studies are needed.
Reversible posterior leukoencephalopathy syndrome due to adrenal pheochromocytoma
Authors: Han Bo , Li Yi , Tang Maozhi , Wu Shun , Xu Xiaosong 
Published: July 2020

Abstract

Rationale:
Reversible posterior leukoencephalopathy syndrome (RPLS) is a rare neuropathic syndrome with typical clinical and radiological features. There are large amounts of risk factors resulting in RPLS, those including hypertension, eclampsia, neoplasia treatment, renal failure, systemic infections, chemotherapy, and immunosuppressive therapy after organ transplantation.

Patient Concerns:
A 27-year-old male patient was admitted for a 2-week history of paroxysmal tic of limbs along with consciousness disorder. Blood pressure elevation was discovered for the first time on admission, and the highest record was 210/150 mmHg during hospitalization. Neurological examinations were positive among mental state, speech, reaction and pathological reflex. The computed tomography scan of the abdomen demonstrated a mass derived from right adrenal gland. The magnetic resonance imaging of the brain showed reversible lesions in the centrum ovale, paraventricular, area and corpus callosum.

Diagnoses:
After control of blood pressure and rationally preoperative preparation, the mass was radically resected and verified to be pheochromocytoma by postoperative pathologic findings. He was diagnosed as having RPLS due to adrenal pheochromocytoma.

Interventions:
The right adrenal gland mass was completely removed after 2 weeks of α-blockers and β-blockers to treat hypertension.

Outcomes:
One week after surgery, the cerebral lesions of RPLS gradually faded and the blood pressure was easy to control well.

Lessons:
A few case reports of RPLS related to pheochromocytomas had been documented in the literature. Therefore, we believe that pheochromocytomas may be a potential risk factor of RPLS. If patients receive timely diagnosis and treatment, it can often lead to a favorable prognosis.
The significance of multidisciplinary classifications based on transbronchial pathology in possible idiopathic interstitial pneumonias
Authors: Wang Weixue , Xu Jian , Liu Chunfang , Feng Ruie , Zhao Junjun , Gao Na , Jiang Ling , Zhang Xiaolin , Han Xue , Ren Lina , Zhao Xiaohui , Liu Yuan 
Published: July 2020

Abstract
Surgical lung biopsy is regarded as the golden standard for the diagnosis of idiopathic interstitial pneumonias (IIPs). Here, we attempted to show the diagnostic accuracy of multidisciplinary classifications based on transbronchial pathology including transbronchial lung cryobiopsy (TBLC) , bronchoalveolar lavage fluid (BALF) and endobronchial ultrasound-guided transbronchial needle aspiration biopsy (EBUS-TBNA).
Patients with suspected interstitial lung diseases admitted from June 1, 2016 to December 31, 2018 were involved. Patients with known causes of interstitial lung diseases and typical idiopathic pulmonary fibrosis diagnosed through clinical, radiological information were excluded. Patients with atypical idiopathic pulmonary fibrosis and possible IIPs accepted transbronchial pathological evaluation. Initial multidisciplinary diagnosis (MDD) classifications were made depending on clinical, radiological and transbronchial pathological information by a multidisciplinary team (MDT). The final MDD classifications were confirmed by subsequent therapeutic effects. All patients were followed up for at least 6 months.
A total of 70 patients were finally involved. The samples of lung parenchyma extracted through TBLC were enough for confirmation of pathological diagnoses in 68.6% (48/70) cases. Samples of 6 cases were extracted by EBUS-TBNA. Bacteriological diagnoses were positive in 1 case by BALF. Pathological diagnoses of 77.1% (54/70) cases were achieved through TBLC, EBUS-TBNA and BALF. During the follow up study, the pulmonary lesions of 60% patients were improved, 11.43% were relapsed when glucocorticoid was reduced to small dose or withdrawal, 14.29% were leveled off and 8.57% were progressed. The diagnoses of 4 patients with progressed clinical feature were revised. As a result, 94.3% initial MDD classifications based on transbronchial pathology were consistent with the final MDD, and the difference of diagnostic yield wasn’t significant between initial and final MDD (Z = −1.414, P = .157).
Classifications of IIPs based on transbronchial pathology were useful and quite agreed with final MDD.
A case report of primary adrenal lymphoma
Authors: Yang Yunyun , Xie Wei , Ren Yan , Tian Haoming , Chen Tao 
Published: July 2020

Abstract

Rationale:
Primary adrenal lymphoma (PAL) is an extremely rare and highly invasive malignant disease. Imaging examination usually shows bilateral adrenal involvement with large tumor masses and local infiltration. However, it is unclear how lymphoma dynamically develops into huge tumor masses in the adrenal glands. The overall survival rate of PAL is generally poor, and the underlying mechanism might be related to prooncogenic mutation but not fully elucidated.

Patient concerns:
A 52-year-old woman complaining of a large mass in the left adrenal region for 1 month was admitted to our department.

Diagnosis:
Computed tomography firstly showed a huge mass (8.9 × 7.5 cm) in the left adrenal gland and diffusely enlarged right adrenal gland. A month later, the mass in the left adrenal gland further enlarged (9.5x7.5 cm) with infiltration of the left renal artery and retroperitoneal lymphadenopathy, and the right adrenal gland rapidly progressed into a huge mass (8.0x4.7 cm). Additionally, her chest computed tomography revealed mediastinal and bilateral hilar lymphadenopathy. Then an adrenal biopsy confirmed the diagnosis of diffuse large B-cell lymphoma, nongerminal center B-cell type, stage IV by Ann Arbor staging system. Immunohistochemistry showed positivity for Ki-67 (approximately 90%), BCL2 (approximately 80%) and MYC (approximately 70%) double-expressor lymphoma.

Interventions:
The patient's condition progressed rapidly, there was no opportunity to use pathology-based chemotherapy. Dexamethasone was given intravenously by thoracic and intraperitoneal injection; antibiotics and supporting treatment were also given.

Outcomes:
The patient's condition progressed rapidly, with the development of malignant chest and abdominal cavity fluid and lung infection, and eventually developed septic shock and respiratory failure. She responded poorly to treatment regimens, and eventually died 8 days after the diagnosis of PAL.

Lessons:
PAL grows progressively throughout the adrenal glands, high Ki-67 positivity and BCL2/ MYC co-expression predict rapid progress and poor prognosis.
Effect of phenylephrine infusion on hypotension induced by the beach chair position
Authors: Ko Myoung Jin , Kim Hyojoong , Lee Hyun-seong , Lee Soo Jee , Park Yei Heum , Bang Jin-Young , Lee Ki Hwa 
Published: July 2020

Abstract

Background:
The beach chair position (BCP), used during shoulder surgery, is associated with hypotension, bradycardia, and risk of cerebral hypoperfusion. Phenylephrine is commonly used as a first treatment of choice of intraoperative hypotension during surgery. We evaluated the hemodynamic effects of 2 doses of intravenous phenylephrine infusion administered before being placed in BCP for arthroscopic shoulder surgery. The primary endpoint was the incidence of hypotension after positional change.

Methods:
Sixty-six patients were randomized to receive either intravenous normal saline (group NS) or intravenous phenylephrine infusion (0.5 μg/kg/min, group LP or 1.0 μg/kg/min, group HP) for 5 minutes before being placed in the BCP. Mean arterial pressure(MAP), heart rate, stroke volume variation, and cardiac index were measured before and after positional change.

Results:
The total incidence of hypotension after the BCP was 93.65%, but was not significantly different among the 3 groups. However, there was a significant difference in trends between the groups for MAP for 5 minutes after BCP (P = .028). Comparison of changes in MAP at 1 minute compared to post-induction MAP was significantly different between group HP and group NS (P = .014).

Conclusion:
Infusion of 0.5 and 1.0 μg/kg/min of phenylephrine for 5 minutes before the BCP has no preventive effect for incidence of hypotension. However, this study showed that 1.0 μg/kg/min of phenylephrine infusion for 5 minutes can attenuate the severity of hypotension.
Efficacy and safety of dual filtration plasmapheresis combined with biological agents in active refractory rheumatod arthritis
Authors: Xing Yida , Wang Shouquan , Liu Changyan , Wang Hongjiang , Zhao Mingli , Jin Bo , Kong Xiaodan 
Published: July 2020

Abstract
To investigate the effectiveness of dual filtration plasmapheresis (DFPP), a novel blood purification treatment, as a rapid and sustained disease-modifying therapy for active refractory rheumatoid arthritis (RA).
A retrospective cohort study had been conducted. One hundred fifty three patients aged 18 years or older with active refractory RA were treated with DFPP combined with infliximab (IFX), IFX, or glucocorticoid (GC), all the above treatments were combined with methotrexate (MTX).
Baseline characteristic of the 153 patients (DFPP: n = 53; IFX: n = 51; GC: n = 49) were similar across groups. The remission rate of CDAI (SDAI) in the DFPP treatment group was significantly higher than that of the IFX and GC group after 3 months of treatment. The remission rate of DFPP treatment group was above 50%, while in IFX and GC group, the rate of CDAI (SDAI) remission was 41.2% (37.3%) and 22.4% (14.2%) after 3 months of treatment.
A combination of DFPP and biological agents can quickly induce remission or low disease activity of active refractory RA.
Randomized trial protocol of interscalene nerve block vs liposomal bupivacaine injection after total shoulder arthroplasty
Authors: He Jianbin , Li Yalan 
Published: July 2020

Abstract

Background:
The possibility of local infiltration analgesia (LIA) replacing interscalene blockade (ISB) as an integral component of a multimodal clinical pathway for total shoulder arthroplasty (TSA) needs to be further investigated. We thus further designed a randomized controlled study to compare LIA with ISB in the treatment of TSA.

Methods:
This blinded and randomised study was performed after approval of the institutional review board in the first affiliated hospital of Jinan University. The included patients were all aged over 18 years and underwent shoulder arthroplasty because of osteoarthritis of the shoulder. Subjects were randomized into 2 groups as follows: LIA or ISB. The primary outcome of this noninferiority study is opioid consumption within the first 24 hours following surgery. Secondary outcomes included pain scores, length of hospital stay, complication, and satisfaction score. P value < .05 was considered statistically significant.

Results:
For the present trial, we hypothesized that there would be no difference in pain score levels and opioid medication use throughout admission.

Trial registration:
This study protocol was registered in Research Registry (researchregistry5640).
Case report: narcolepsy type 2 due to temporal lobe glioma
Authors: Liao Yuangao , He Yan , Yang You , Li Xiaojie , Huang Fengzhen 
Published: July 2020

Abstract

Rationale:
The orexin projection system includes the lateral hypothalamus, reticular activating structure, and ventrolateral preoptic nucleus, and this system is related to the pathogenesis of narcolepsy. Here, we report a case of narcolepsy type 2 caused by hippocampal glioma of the right temporal lobe.

Patient concerns:
A 44-year-old male farmer complained of excessive daytime sleepiness (EDS) over the past 3 months and more.

Interventions:
The lesion of the right anteromedial temporal lobe was removed and its pathological examination was carried out.

Outcomes:
General examination showed no abnormalities of his heart, lungs, or abdomen. Neurological examination showed no positive sign. The blood routine and biochemical examination were normal. He scored 7 on the Pittsburg sleep quality index, 16 on the Epworth sleepiness scale, 52 on the self-rating anxiety scale, and 48 on the self-rating depression scale. The multiple sleep latency test data showed 2 periods of sleep-onset rapid eyes movement period across 4 successive tests; the average sleep latency was under 8 minutes, and the rapid eyes movement latency was under 7 minutes. Lesion of glioma in hippocampus area of the right anteromedial temporal lobe was confirmed through magnetic resonance imaging, magnetic resonance spectroscopy, and histological examination. After surgical removal of the glioma from the hippocampus area of the right anteromedial temporal lobe, the patient's EDS symptoms disappeared immediately. He scored 3 on the Epworth sleepiness scale. During our follow-up three months later, he remained well with no complications.

Diagnosis:
We diagnosed the patient with narcolepsy type 2 according to the 3rd Edition of International Classification of Sleep Disorders (ICSD-3).

Conclusion:
The patient suffered from EDS and was diagnosed with narcolepsy type 2. The narcolepsy type 2 was linked to glioma of the hippocampus area. The hippocampus might be another part of regulating the sleep-arousal pathway, and the glioma secretion might interact with the orexin projection system.
Feasibility of customizing titanium implant with three-dimensional CT imaging of low dose in skull
Authors: Yang Min-xia , Chen Bing , Zhang Ya-ping , Zhao Zhen-hua 
Published: July 2020

Abstract

Object:
To explore the feasibility and practicability of making virtual three-dimensional model of skull defect and customizing titanium implant by skull three-dimensional CT examination of low dose.

Methods:
Sixty patients with skull defects who underwent skull three-dimensional CT before cranioplasty were randomly divided into 4 groups: group A (conventional dose 120 peak Kilovoltage (kVp), 150 tube current time product (mAs)), low dose group B (120 kVp, 50 mAs), low dose group C (100 kVp, 50 mAs), low dose group D (100 kVp, 30 mAs). After the scanning, we compared radiation doses and image quality among the groups. The CT data were sent to the reconstruction company to produce accurate titanium implants, and neurosurgeons performed cranioplasty. After the operation, patients immediately underwent head CT scans to confirm the accuracy of the implantation position, and a series of clinical functions were evaluated.

Results:
There were significant differences in dose length product (DLP) and effective dose (ED) among the 4 groups (P < .001). The volume CT dose index (CDTIvol), DLP, and ED in group D were, respectively, 87.1%, 86.9%, and 87.3% lower than those in group A (P < .001). All images quality were at or above the general level, and there was no statistical difference (P > .05). Titanium implants were successfully manufactured, every cranioplasty was carried out smoothly, and the clinical function of patients recovered well.

Conclusion:
Customizing titanium implant with three-dimensional CT imaging of low dose in skull not only met the clinical requirements, but also significantly reduced the radiation dose and hazard.