bluuebunny/crossref_metadata_2025_split huggingface dataset:
SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report
Authors: Lu Ya-Ting , Wang Lin , Hou Le-Le , Zheng Ping-Ping , Xu Qian , Deng Da-Tong 
Published: September 2022

Rationale:
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, inner ear malformations, goiter, and abnormal organification of iodide. It is caused by mutations in SLC26A4 gene, which encodes pendrin (a transporter of chloride, bicarbonate, and iodide). Pendred syndrome is a common cause of syndromic deafness, but the metabolic abnormalities it causes are often overlooked. Here, we report the case of a patient diagnosed with Pendred syndrome with hypokalemia.

Patient concerns:
A 53-year-old deaf-mute woman was hospitalized due to severe limb asthenia. The emergency examination showed that her blood potassium level was 1.8 mmol/L.

Diagnoses:
Through the genetic test, we found a mutation of SLC26A4 gene in NM_000441: c.2027T>A, p.L676Q, as well as the SLC26A4 exon 5-6 deletion. These genetic variations pointed to Pendred syndrome (an autosomal recessive disorder that mainly affects the inner ear, thyroid, and kidney) which is a common cause of syndromic deafness.

Interventions:
The patient was treated with potassium supplements and screened for the cause of hypokalemia.

Outcomes:
The patient was discharged after her potassium levels rose to the normal range.

Lessons:
Patients with Pendred syndrome may also have certain metabolic abnormalities; thus, more attention should be paid to them during clinical diagnosis.
Tuberculosis infection related hemophagocytic lymphohistiocytosis diagnosed in patient with GZMB mutation: A case report and literature review
Authors: Wang Zhenhao , Zhang Jin , Hao Zhaonian , Meng Li , Han Zhiqiang , Hong Zhenya 
Published: September 2022

Background:
Secondary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening syndrome associated with infections, tumors and connective tissue disease. However rapid identification of the underlying infectious cause of HLH is challenging because traditional etiological diagnostics are time-consuming and sometimes fail to identify the pathogens. Metagenomic next-generation sequencing (mNGS) may be a potential optimal solution, which may help improve the clinical diagnosis of underlying infections in hematological diseases.

Case presentation:
A 28-year-old man presented with a 2-month history of intermittent fever and cytopenia. The HLH was diagnosed based on the manifestations of fever, splenomegaly, anemia, thrombocytopenia, hyperferritinemia, hyperglyceridemia, and elevated IL-2R levels. High-through-put sequencing analysis detected a GZMB mutation. While the initial detection of cultures and smears of tuberculosis was negative, TB infection was eventually identified by mNGS of blood sample. The symptoms rapidly abated during the initial administration of TB.

Conclusion:
The present case proposed that mNGS might be an effective diagnostic tool for diagnosing rare infectious cause of secondary HLH. GZMB mutation was first discovered to be present in secondary HLH.
The effects of ultrasound-guided serratus anterior plane block on intraoperative opioid consumption and hemodynamic stability during breast surgery: A randomized controlled study
Authors: Baytar Çağdaş , Aktaş Bahar , Aydin Bengü Gülhan , Pişkin Özcan , Çakmak Güldeniz Karadeniz , Ayoğlu Hilal 
Published: September 2022

Aim:
To determine effect of ultrasound-guided serratus anterior plane block (SAPB) on intraoperative opioid consumption in patients undergoing oncoplastic breast surgery under general anesthesia.

Methods:
This study was conducted as a prospective, randomized controlled trial. Forty-four patients enrolled, aged 18 to 75 years with American Society of Anesthesiologists physical status I to III, undergoing elective oncoplastic breast surgery. Patients were randomly allocated to receive SAPB with 20 mL of 0.25% bupivacaine + general anesthesia (group SAPB) or only general anesthesia (group control). The primary outcome was assessing the effect of SAPB on intraoperative remifentanil consumption. Patients were assessed for emergence time, hemodynamic parameters, doses of rescue drugs used to control hemodynamic parameters, and duration of stay in the recovery room.

Results:
Preoperative SAPB with 0.25% bupivacaine reduced intraoperative opioid consumption (851.2 ± 423.5 vs 1409.7 ± 756.1 µg, P = .019). Emergence time was significantly shorter in group SAPB (6.19 ± 1.90 minutes) compared to group control (9.50 ± 2.39 minutes; P < .001). There were no significant differences in the doses of rescue drugs used for systolic blood pressure and heart rate between the groups.

Conclusions:
Preoperative SAPB with bupivacaine reduced intraoperative opioid consumption and shortened emergence time and duration of stay in the recovery unit, and hemodynamic stability was maintained without block-related complications.
Acute abdominal aortic injury during posterior lumbar fusion surgery: A case report
Authors: Wang Jianhe , Hu Yunxiang , Wang Hong 
Published: September 2022

Introduction:
Vascular injury is a serious complication during lumbar fusion surgery, leading to massive blood loss and life-threatening circulatory failure. In this study, we report on a patient with abdominal aorta injury at L2-L3 level during lumbar fusion surgery via posterior approach. Fortunately, our patient was successfully managed with prompt intervention.

Patient concerns:
A 73-year-old female was admitted to our department of low back and bilateral leg pain with claudication for over 6 months.

Diagnosis:
L2-S1 spinal canal stenosis, with abdominal aorta injury at the L2-L3 level during lumbar fusion surgery via a posterior approach.

Interventions:
L2-S1 decompression and fusion via a posterior approach was employed for spinal canal stenosis. Transluminal angioplasty with stent placement was successfully performed to stop the bleeding.

Outcomes:
During the procedure, it was decided that staunching the active bleeding was necessary and attention should be paid to the vital signs and blood pressure. Vascular surgical intervention was immediately scheduled when the blood pressure dropped. After stent placement, hemodynamic parameters stabilized.

Conclusion:
In this case report we review the prevalent sites, predisposing risk factors, diagnosis, and treatment of acute abdominal aortic injury during posterior lumbar fusion surgery, in view of our case findings. Although the incidence of vascular injury during lumbar fusion surgery is low, it is often easily overlooked. Consequently, during surgery, physicians should always be alert to the risk of vascular injury and master its clinical characteristics. Once injury is suspected, active and effective measures should promptly be taken for diagnosis and treatment to avoid serious adverse consequences.
Warfarin-induced spontaneous intramural small bowel hematoma presenting as an acute abdomen: A case report
Authors: Chen Ding-Han , Soh Khay-Seng , Wang Ying-Tso , Shen Te-Chun 
Published: September 2022

Rationale:
Spontaneous intramural small-bowel hematoma (SISBH) is a rare complication of anticoagulation therapy. Presentation of SISBH can vary from mild abdominal pain to an acute abdomen.

Patient concerns:
A 70-year-old woman was brought to the emergency department because of severe abdominal pain for 1 day. She had a medical history of coronary artery disease and paroxysmal atrial fibrillation and was receiving anticoagulation therapy with warfarin for 3 years.

Diagnosis:
Computed tomography disclosed disproportional dilatation of the segmental small bowel and near-total obstruction of the intestinal lumen at the level of the jejunum, indicating an acute abdomen.

Interventions:
We performed laparoscopic exploration and found a segmental distal jejunum was tense, heavy, firm, and discolored with a blue hue. Histopathological examination of the resected jejunum revealed diffuse hemorrhage and necrosis at the mucosa and submucosal layers, indicating SISBH.

Outcomes:
The patient had an uneventful recovery and was discharged in a relatively stable condition.

Lessons:
Warfarin-induced SISBH presenting as an acute abdomen is an emergency condition that needs early diagnosis and timely management. Surgical intervention may be indicated for intestinal obstruction, ischemia, perforation, peritonitis, and intra-abdominal hemorrhage.
Arthroscopically assisted reduction and internal fixation of a femoral anterior cruciate ligament osteochondral avulsion fracture in an 11-year-old girl: A case report
Authors: Zheng Zhongren , Wang Lei , Tian Ke , Zhao Xiaowei , Ma Longfei 
Published: September 2022

Rationale:
The anterior cruciate ligament (ACL) is relatively rarely injured in children and adolescents, accounting for just 0.5% of all ACL rips that occur. Avulsion fractures are more common in youngsters because their ligamentous structures are known to be stronger than their physical insertion sites. Tibial eminences have been reported to be the sites of most ACL avulsions, and both cartilaginous and osteochondral avulsion fractures have been observed, whereas the latter occurs more commonly. On the other hand, femoral osteochondral avulsion fractures of the ACL in children are uncommon, as only a few studies describe their occurrence in immature patients.

Patient concerns:
In this case report, we present an 11-year-old girl who suffered an ACL femoral attachment avulsion fracture after pivoting her knee during riding. A comprehensive formal evaluation of the knee was impractical due to the persistence of pain and tight haemarthrosis.

Diagnoses:
Femoral anterior cruciate ligament osteochondral avulsion fracture.

Interventions:
We used Two No.2Ethibond sutures to pick up the osteochondral fragment and passed across the lateral femoral condyle to come out laterally and fixed with a tie proximally, and we recommended the patient perform reasonable functional exercises postoperatively.

Outcomes:
The patient had no pain, instability, or activity limitations after 24 months of surgery. Physical examination of the patient revealed full and symmetric ROM, and normal Lachman and pivot shift test performance.

Lessons:
ACL avulsion fractures can be accurately treated with arthroscopic reduction and sutures via an inside-out technique, which can reduce the risk of persistent ligamentous laxity and reduce open surgery-related morbidity.
Comparison of the effects of cranial electrotherapy stimulation and midazolam as preoperative treatment in geriatric patients: A CONSORT-compliant randomized controlled trial
Authors: Park Byeong Seon , Jin Sejong , Kim Woon Young , Kang Da Som , Choi Yoon Ji , Lee Yoon Sook 
Published: September 2022

Background:
Although midazolam is widely administered as an anxiolytic premedication, it may cause over-sedation and hypoxia in geriatric patients. Cranial electrotherapy stimulation (CES) is a nonpharmacological device with anxiolytic effect. This study compared the effects of CES and midazolam as a preoperative treatment in geriatric patients.

Methods:
Eighty patients, under the age of 65 to 79 years, undergoing general anesthesia were randomly assigned into midazolam premedication group (M group, n = 40) or CES pretreatment group (CES group, n = 40). The patients in the M group were intramuscularly injected with midazolam (0.07 mg/kg) 30 minutes before receiving general anesthesia. The patients in the CES group received 20 minutes of CES pretreatment on the day before and on the morning of the surgery.

Results:
In the preoperative holding area, the anxiety score (P = .02) and the sedation score (P < .001) were significantly lower in the CES group compared with those in the M group. The oxygen saturations at the preoperative holding area and the operating room were significantly higher in the CES group than those in the M group (P < .001).

Conclusion:
CES pretreatment relieved preoperative anxiety with less risk of over-sedation and respiratory depression than midazolam premedication in geriatric patients.
Diffuse low-grade glioma misdiagnosed as acute cerebral infarction: A case report
Authors: Ma Yipo , Zhang Jinfeng , Wen Ying , Chen Jinghua , Yuan Lei , Jiang Xuechun , Xu Dan , Liu Kefu 
Published: September 2022

Rationale:
Diffuse low-grade gliomas (DLGGs) are relatively rare tumors that are more likely to be misdiagnosed and wrongly treated in clinical practice. We report a case of DLGG detected by computed tomography and magnetic resonance imaging (MRI).

Patient concerns:
A 58-year-old man suddenly phantom smells for half an hour and was previously healthy.

Diagnoses:
Computed tomography findings showed a leaf-shaped slightly hypodense shadow in the right temporal lobe with no obvious mass effect and an unclear boundary. MRI findings showed diffuse and slightly longer T1-weighted imaging (T1WI)/T2-weighted imaging (T2WI)signal in the right temporal lobe and hippocampus, slight hyperintensity on diffusion-weighted imaging, diffuse swelling in the right temporal lobe and hippocampus, and shallower cerebral sulci and fissures. No obvious abnormal enhancement was observed on enhanced MRI. Contrast-enhanced magnetic resonance angiography showed no obvious abnormality.

Interventions:
Intravenous thrombolysis with alteplase (rtPA) was given first.

Outcomes:
The patient had an acute and persistent generalized tonic-clonic seizure and was given antiepileptic treatment. Immunopathological and molecular genetic testing diagnosed as DLGGs. After targeted chemotherapy, the patient’s symptoms improved significantly.

Lessons:
For those cases with clinical acute neurological impairment and imaging findings similar to those of ischemic stroke, where the distribution of lesions is inconsistent with the distribution of blood vessels, and the time of onset does not match the imaging findings, the possibility of DLGGs should be considered.
Superior mesenteric artery syndrome after colectomy: A case report and literature review
Authors: Li Xiangmin , Tian Min , Yang Hui , Liu Yulin , Chen Jingbo , Tian Hu 
Published: September 2022

Rationale:
Superior mesenteric artery (SMA) syndrome, also known as Wilkie syndrome, is a rare benign disease characterized by small bowel obstruction due to compression of the third portion of the duodenum by the SMA and the abdominal aorta. However, SMA syndrome after colectomy is extremely rare, establishing a clear diagnosis and formulating a treatment plan may be challenging for surgeons.

Patient concerns:
A 64-year-old male with multiple colon polyposis and constipation underwent laparoscopic subtotal colectomy with cecal-rectal anastomosis. On the seventh postoperative day, he started vomiting and complained of abdominal bloating.

Diagnosis:
An upper gastrointestinal series, computed tomography scan and computed tomography angiography confirmed the diagnosis of SMA syndrome.

Interventions:
Gastric decompression, nasojejunal tube feeding and parenteral nutrition were performed.

Outcomes:
After 3 weeks of conservative treatment, the patient showed no clinical improvement in symptoms. Subsequently, he suffered from gastrointestinal hemorrhage, deep venous thrombosis of the lower extremity and cerebral hemorrhage successively. Unfortunately, the patient eventually died.

Lessons:
Surgeons should be aware of the fact that SMA syndrome can occur after colectomy. Every attempt should be made to correct and avoid any predisposing factors perioperatively. Prompt diagnosis of SMA syndrome after colectomy and appropriate early intervention reduce mortality.
New-onset type 1 diabetes mellitus as a delayed immune-related event after discontinuation of nivolumab: A case report
Authors: Seo Je Hyun , Lim Taekyu , Ham Ahrong , Kim Ye An , Lee Miji 
Published: September 2022

Rationale:
Immune checkpoint inhibitors (ICIs) have revolutionized cancer treatment. However, they may cause immune-related adverse events. Although there have been a few reports of new-onset type 1 diabetes mellitus (T1DM) during ICI treatment, T1DM as a delayed immune-related event after discontinuing immunotherapy is extremely rare. Herein, we report the case of an elderly veteran who presented with diabetic ketoacidosis 4 months after the discontinuation of treatment with nivolumab.

Patient concerns:
A 74-year-old veteran was treated with second-line nivolumab for advanced non–small cell lung cancer. After 9 treatment cycles, the administration was discontinued due to fatigue. Four months later, he was admitted to the emergency department in a stuporous mental state and hyperglycemia, with high glycosylated hemoglobin levels (10.6%). C-peptide levels were significantly decreased, with negative islet autoantibodies.

Diagnoses:
We diagnosed nivolumab-induced T1DM. There were no laboratory results indicating a new thyroid dysfunction or adrenal insufficiency, which are typical endocrine adverse reactions.

Interventions:
Since the hypothalamic and pituitary functions were preserved and only the pancreatic endocrine capacity was impaired, we administered continuous intravenous insulin injections, with fluid and electrolyte replacement.

Outcomes:
His serum glucose levels decreased, and symptoms improved; hence, on the 8 day of hospitalization, we switched to multiple daily insulin injections.

Lessons:
The present case indicates that regular glucose monitoring and patient education are needed for diabetic ketoacidosis after the discontinuation of ICI therapy.
Non-pharmacological intervention effects on apathy caused by central nervous system organic diseases: A network meta-analysis
Authors: Tan Shaoying , Lin Xiaoli , Liu Zan , Wu Yao , Xie Bijiao , Wang Tao 
Published: September 2022

Background:
To evaluate the best non-pharmacological interventions on apathy in patients with central nervous system (CNS) organic diseases.

Methods:
We searched PubMed, Web of Science, Embase, Cochrane Library electronic databases, China national knowledge infrastructure, Wanfang and Chinese biomedical literature database studies published from 2011 to May 29, 2021. A combination of subject words and free words were used for searching. Randomized controlled trials (RCTs) of non-pharmacological interventions for apathy in patients with central nervous organic disease were included. Two researchers independently identified the eligible RCTs and extracted information. The risk of bias within each individual trial was assessed using the Cocharane Collaboration’s tool. Review Manager 5.4 and ADDIS 1.16.5 were used for data analysis.

Results:
A total of 5324 related studies were obtained in the initial screening, and final 8 RCTs including 334 patients were included, involving 4 non-pharmacological interventions of cognitive intervention, repetitive transcranial magnetic stimulation (rTMS), music therapy and occupational therapy. Direct comparison results showed that rTMS, cognitive intervention, and occupational therapy were superior to the conventional group (P < .05). Network Meta repeated rTMS, cognitive intervention was superior to the conventional group (P < .05), while the other groups did not differ from with the conventional group (P > .05). The order of superiority was rTMS, cognitive intervention, occupational therapy, music therapy, and conventional group.

Conclusion:
Current evidence suggests that rTMS and cognitive interventions are more effective than the conventional intervention in improving apathy in patients with CNS organic diseases. It still needs more non-pharmacological intervention studies with high quality, larger sample sizes for further exploration.
The Effect of Easily Implementable Changes to the “D’s of Stroke Care” in Reducing Sex Disparity in Door-to-Needle Time
Authors: Jameie Melika , Jameie Mana , Farahmand Ghasem , Ilkhani Saba , Magrouni Hana , Ranjbar Zahra , Heydari Sanaz , Shahbazi Mojtaba , Kaeedi Maryam , Amani Kiana , Amiri Rosita , Alizade Fateme , Balali Pargol , Amanollahi Mobina , Pourghaz Bahareh , Ghabaee Mojdeh 
Published: September 2022

Background:
Door-to-needle (DTN) is the duration between patient’s arrival at the hospital and receiving intravenous thrombolysis in ischemic stroke settings, for which studies have reported delays in women. The “D’s of stroke care” describes 8 steps (D1 to D8) in patients’ time tracker. We implemented simple modifications to the “D’s of stroke care” by splitting D4 and D6 steps into these substeps: patients’ arrival to the emergency room (D4-A), early assessment by a neurologist (D4-B), neurologist decision on patient’s eligibility to receive recombinant tissue plasminogen activator (D6-A), and patient’s transfer to the stroke unit (D6-B). We evaluated the effect of these changes on reducing DTN time disparity between men and women.

Methods:
This study was conducted from September 2019 to August 2021, at a comprehensive stroke center. Patients were analyzed in 2 groups: group 1, before, and group 2, after using the modifications. Sex as the main variable of interest along with other covariates was regressed toward the DTN time.

Results:
In groups 1 and 2, 47 and 56 patients received intravenous thrombolysis, respectively. Although there was a significant difference in DTN≤1 hour between women and men in group 1 (36% vs. 52%, P=0.019), it was not significantly different in group 2 (P=0.97). Regression analysis showed being female was a significant predictor of DTN>1 hour in group 1 (adjusted odds ratio=6.65, P=0.02), whereas after using the modifications, sex was not a significant predictor for delayed DTN.

Conclusions:
Implementing these substeps reduced sex disparity in DTN time in our center.
Enhanced Efficiency in Pediatric Interfacility Transport Through a Centralized Hospital System Communication Center
Authors: Krennerich Emily C. , Graf Jeanine M. , Shekerdemian Lara S. , D’Ambrosio Deborah , McPherson Mona L. 
Published: September 2022

OBJECTIVES:
Assess the implementation of a new centralized communication center and the effect on our institution’s interfacility transport team’s ability to respond to requests for patient transport.

DESIGN:
Retrospective review of data over 12 months prior to opening compared with 12 months after implementation of our centralized communication center.

SETTING:
Quaternary academic pediatric hospital system with three campuses, a specialized transport team with expertise in pediatric, neonatal, and maternal-fetal critical care, and a new centralized hospital system communication center.

PATIENTS:
All patients for whom transport to our hospital system was requested within the review period.

INTERVENTIONS:
Our hospital developed a multidisciplinary, centralized hub incorporating technology and integrated electronic tracking systems to coordinate real-time patient flow including intra- and interhospital transfers. One function of this center is to provide a communication center for critical care transports. Multiple new protocols and processes for transport were implemented upon opening.

MEASUREMENTS and MAIN RESULTS:
After implementation, total transports increased 60% (from 1,200 to >1,900 transports/yr). Team dispatch time decreased 40% from 57–34 minutes. Time from initiation of call to physician acceptance decreased 15% (median, 27–23 min). Over the same interval, there were 59% fewer lost transport opportunities. With this growth, our program was able to expand our transport program in scope and numbers.

CONCLUSIONS:
A centralized communication center for pediatric hospital patient flow that included specialized critical care patient transport has increased transport capacity and enhanced efficiency throughout our multicampus hospital system.