bluuebunny/crossref_metadata_2025_split huggingface dataset:
Shwachman-diamond syndrome
Authors: Tan Huihan , Su Dequan , Zhuo Zhiqiang 
Published: February 2021

Abstract

Rationale:
The aim of this study was to analyze the genetic abnormalities and clinical manifestations of Shwachman-Diamond syndrome (SDS).

Patient concerns:
A Chinese infant with elevated transaminase and a novel mutation at of sbdsc.258 +2T>C and c.184a>Tc.292G>A.

Diagnoses:
The female patient was 5 months’ old at onset, with elevated transaminase as the first manifestation accompanied by restricted growth and development and oily stool. After sequencing the blood samples from patients and their parents, the heterozygous mutations of sbdsc.258 +2T>C and c.184a>T were detected.

Interventions:
After admission, the patient was provided compound glycyrrhizin, Newtide formula milk supplemented with probiotics, fat-soluble vitamins, oral medication to adjust the spleen and stomach, and other symptomatic treatments.

Outcomes:
The stool traits improved, and the levels of liver function transaminases decreased compared with before.

Lessons:
SDS is a rare disease with a variety of clinical manifestations. Pancreatic exocrine dysfunction, blood system manifestations, and bone abnormalities are common clinical manifestations, and genetic testing is helpful for diagnosis.
The value of endobronchial ultrasound-guided transbronchial needle aspiration, 18-fluorodeoxyglucose positron emission tomography/computed tomography, and ultrasonography imaging techniques in the diagnosis of mediastinal and/or hilar malignant, anthracotic, and other benign lymph nodes
Authors: Korkmaz Celalettin , Demirbas Soner , Vatansev Hulya 
Published: February 2021

Abstract

Introduction:
Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a simple, reliable, minimally invasive and effective procedure. However, a surgical technique may be required, if the results are negative. Therefore, there is a need for new studies to increase the diagnostic value of EBUS-TBNA and provide additional information to guide the biopsy in performing the procedure. Here, we aimed to investigate the diagnostic value of EBUS-TBNA and 18-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) in diagnosis of hilar and/or mediastinal lymph nodes (LNs). It was also aimed to determine the contributions of real-time ultrasonography (USG) images of LNs to distinguishing between the malignant and benign LNs during EBUS-TBNA, and in the diagnosis of anthracotic LNs.

Material and Method:
In the retrospective study including 545 patients, 1068 LNs were sampled by EBUS-TBNA between January 2015 and February 2020. EBUS-TBNA, 18-FDG PET/CT and images of USG were investigated in the diagnosis of mediastinal and/or hilar malignant, anthracotic and other benign LNs.

Results:
The sensitivity, specificity, positive predictive value and negative predictive value of EBUS-TBNA were found as 79.5, 98.1, 89.5, and 91.7%, respectively. Mean maximum standardized uptake value (SUVmax) values of 18F-FDG PET/CT were 6.31±4.3 in anthracotic LNs and 5.07 ± 2.53 in reactive LNs. Also, mean SUVmax of malignant LNs was 11.02 ± 7.30 and significantly higher than that of benign LNs. In differentiation of malignant-benign tumors, considering the cut off value of 18F-FDG PET/CT SUVmax as 2.72, the sensitivity and specificity was 99.3 and 11.7%, but given the cut off value as 6.48, the sensitivity, specificity, positive predictive value and negative predictive value was found as 76.5, 64, 20.49, and 78.38% for benign LNs, respectively. Compared LNs as to internal structure and contour features, malignant LNs had most often irregular contours and heterogeneous density. Anthracotic, reactive and other benign LNs were most frequently observed as regular contours and homogeneous density. The difference between malignant and benign LNs was significant.

Conclusion:
EBUS can contribute to the differential diagnosis of malignant, anthracotic and other benign LNs. Such contributions can guide clinician bronchoscopists during EBUS-TBNA. The triple modality of EBUS-TBNA, 18FDG PET/CT, and USG may increase the diagnostic value in hilar and mediastinal lymphadenopathies.
The association between family history of prostate cancer and development of prostate cancer among Korean population
Authors: Choi Hyo Geun , Bang Woo Jin , Jo Jung Ki , Oh Cheol Young , Shim Myungsun , Cho Jin Seon 
Published: February 2021

Abstract
This study aimed to assess the impact of family history (FH) on prostate cancer (PCa) development among a general Korean population. We conducted a prospective cohort study based on the registry records of 211,789 participants in the database of the Korean Genome and Epidemiology Study from 2001 to 2013. A total of 69,693 men with appropriate records were evaluated by being categorizing into 2 groups; a PCa group (100) and control group (69,593). FH of PCa was also categorized as FH of total, father, or brother. Odds ratios (ORs) of PCa development were calculated by using stratified logistic regression models. The adjusted OR of PCa history of father was 27.7 (95% confidence interval [CI] = 9.7–79.2, P < .001) in PCa patients compared to control, and that of PCa history of brother was 15.8 (95% CI = 3.6–69.6, P < .001). Among the adjusted variables, age (OR, 1.17; 95% CI, 1.14–1.21; P < .001), and hyperlipidemia (OR, 2.25; CI, 1.32–3.84; P = .003) were also identified as significant predictors of PCa development. There was no difference in the impact of FH on PCa development between different age groups at PCa diagnosis (<60 vs ≥60 years). To our knowledge, this study represents the first prospective cohort study based on the registry data of a Korean population showing the significance of FH on PCa development. Additionally, the effect of FH on the early onset of PCa has not been confirmed in our analysis.
Factors associated with immune checkpoint inhibitor use among older adults with late-stage melanoma
Authors: Rai Pragya , Shen Chan , Kolodney Joanna , Kelly Kimberly M. , Scott Virginia G. , Sambamoorthi Usha 
Published: February 2021

Abstract
Improvement in overall survival by immune checkpoint inhibitors (ICI) treatment in clinical trials encourages their use for late-stage melanoma. However, in the real-world, heterogeneity of population, such as older patients with multimorbidity, may lead to a slower diffusion of ICIs. The objective of this study was to examine the association of multimorbidity and other factors to ICI use among older patients with late-stage melanoma using real world data.
A retrospective cohort study design with a 12-month baseline and follow-up period was adopted with data from the linked Surveillance, Epidemiology, and End Results cancer registry/Medicare database. Older patients (>65 years) with late-stage (stage III/IV) melanoma diagnosed between 2012 and 2015 were categorized as with or without multimorbidity (presence of 2 or more chronic conditions) and ICI use was identified in the post-index period. Chi-square tests and logistic regression were used to evaluate factors associated with ICI use.
In the study cohort, 85% had multimorbidity, 18% received any treatment (chemotherapy, radiation, and/or ICI), and 6% received ICI. Only 5.5% of older patients with multimorbidity and 6% without multimorbidity received ICIs. Younger age, presence of social support, lower economic status, residence in northeastern regions, and recent year of diagnosis were significantly associated with ICI use; however, multimorbidity, sex, and race were not associated with ICI use.
In the real-world clinical practice, only 1 in 18 older adults with late stage melanoma received ICI, suggesting slow pace of diffusion of innovation. However, multimorbidity was not a barrier to ICI use.
Optical coherence tomography angiography for the diagnosis of granulomatosis with polyangiitis with serous retinal detachment
Authors: Takashi Noriko , Nakamura Aya , Kataoka Keiko , Usui Yoshihiko , Ito Yasuki , Kaneko Hiroki 
Published: February 2021

Abstract

Rationale:
Granulomatosis with polyangiitis (GPA) is a rare systemic autoimmune disease of unknown etiology. GPA affects multiple ocular tissues, most commonly the orbit, conjunctiva, cornea, and sclera. Retinal and choroidal manifestations are rare in GPA, but they often include choroidal neovascularization (CNV).

Patient concerns:
A 36-year-old man was diagnosed with GPA. He had been taking oral steroid treatment for 8 years. He experienced disease recurrence and the dose of oral prednisolone was increased after steroid pulse therapy. Fundus examination showed small retinal pigment epithelial detachment and serous retinal detachment (SRD). Optical coherence tomography (OCT) revealed a protruded lesion inside the SRD. Fluorescein angiography (FA) showed a small, dot-shaped fluorescein leakage in the SRD, and indocyanine green fluorescein fundus angiography showed choroidal vascular hyperpermeability that was consistent with the hyperfluorescence seen with FA. We had to determine whether the protruded lesion inside the SRD was CNV secondary to the inflammation due to GPA or whether it was central serous chorioretinopathy (CSC)-like condition caused by high-dose steroid treatment.

Diagnoses:
We confirmed that the SRD was due to CSC but not CNV because the protruded lesion examined by B-scan OCT angiography (OCTA) showed no blood flow.

Interventions:
We decided to reduce the dose of steroid.

Outcomes:
Since the reduction of steroids, no sign of worsening in the protruded lesions with SRD has been observed.

Lessons:
We therefore propose the effectiveness of this advanced function of OCTA for the examination of blood flow signal images to detect CNV.
Hybrid operation for infectious thoracic and abdominal aortic aneurysms complicated with Bacillus Calmette–Guérin therapy for bladder cancer
Authors: Akabane Kentaro , Uchida Tetsuro , Matsuo Somei , Hirooka Shuto , Kim Cholus , Uchino Hideaki , Shimanuki Takao 
Published: February 2021

Abstract

Rational:
Bacillus Calmette–Guérin (BCG) intravesical instillation therapy is a widely used treatment for bladder cancer; however, an infectious aneurysm has been reported as a rare complication.

Patient concerns:
A 76-year-old man who underwent BCG intravesical instillation therapy for bladder cancer presented with prolonged dull back pain for 3 months.

Diagnosis:
Computed tomography (CT) revealed both thoracic and abdominal aortic aneurysms (AAAs). Follow-up CT at 4 weeks after the initial examination showed rapid enlargement of both aneurysms and typical findings of inflammation. Therefore, he was diagnosed with an impending rupture of infectious aneurysms.

Interventions:
Although open surgical resection of both aneurysms and vascular reconstruction were ideal, these operations were considered highly invasive for the patient. Therefore, a hybrid operation consisting of simultaneous endovascular repair of the thoracic aneurysm and open surgery of the abdominal lesion was performed.

Outcomes:
BCG “Tokyo-172” strain was identified in the resected sample from the aneurysmal wall, and he continued to receive oral antituberculosis drugs for 6 months. No sign of recurrent infection was observed 1 year after the operation.

Lessons:
A hybrid operation might be justified as an alternative to the conventional open surgical procedure, especially for patients with infectious aneurysms caused by weak pathogenic bacteria such as, the BCG mycobacteria.
Tension gastrothorax in late-onset congenital diaphragmatic hernia, a rare but life-threatening condition
Authors: Song In-Hag 
Published: February 2021

Abstract

Rationale:
Tension gastrothorax is a serious condition that can cause acute respiratory failure, which is mostly related to congenital diaphragmatic hernia (CDH) in pediatric cases. It is uncommon in late-onset CDH patients, and is difficult to diagnose due to atypical presentation. It is often misdiagnosed as tension pneumothorax or pleural effusion, leading to delayed treatment and potentially fatal outcome. In this study, we are reporting our experience of diagnosis and treatment of tension gastrothorax in a late-onset CDH patient.

Patient concerns:
A 2-year old boy presented to this hospital with severe dyspnea and abdominal pain that suddenly occurred while taking a bath.

Diagnosis:
Based on radiological findings we diagnosed tension gastrothorax.

Interventions:
Hernia reduction and diaphragmatic defect repair were performed under thoracotomy.

Outcomes:
After the operation, the patient's clinical symptoms and imaging findings improved. At 1-year postoperative follow up, the patient was well with normal chest x-ray findings.

Lessons:
Tension gastrothorax in late-onset CDH is a life-threatening condition that requires rapid diagnosis and treatment. When the diagnosis is unclear by chest x-ray, chest computed tomography should be performed to confirm the diagnosis. A nasogastric tube should be inserted whenever possible for diagnosis and gastric decompression. Although laparotomy is the most preferred approach, we recommend that surgeons consider taking a thoracotomy approach in unstable patients that cannot undergo gastric decompression before operation.
Difficulty in distinguishing malignant gastric lymphoma from advanced gastric cancer
Authors: Jung Kyoungwon , Choe Il Hyeong , Park Moo In , Park Seun Ja , Moon Won , Kim Sung Eun , Kim Jae Hyun , Seo Kwang Il 
Published: February 2021

Abstract
Malignant gastric lymphoma (MGL) accounts for a small proportion (upto 5%) of gastric malignancies. However, unlike for advanced gastric cancer (AGC) that requires surgical treatment, the standard treatments for MGL are chemotherapy and radiotherapy. Hence, the initial impression of the endoscopist is critical for the differential diagnosis and for planning future treatment. The purpose of this study was to assess the endoscopic diagnostic accuracy and the possibility of distinguishing between AGC and MGL depending on the endoscopist's experience.
A total of 48 patients who had MGL, and 48 age and sex-matched patients who had AGC were assessed by endoscopic review at a tertiary referral hospital between June 2008 and February 2017. Two endoscopic specialists reviewed the endoscopic findings and divided these diagnoses into 5 groups: Borrmann type (1, 2, 3, and 4) and early gastric cancer-like type. After this, 7 experts and 8 trainees were asked to complete a quiz that was comprised of 6 images for each of the 96 cases and to provide an endoscopic diagnosis for each case. The test results were analyzed to assess the diagnostic accuracy according to the pathologic results, endoscopic subgroups, and endoscopists’ experience. For inter-observer agreement was calculated with Fleiss kappa values.
The overall diagnostic accuracy of endoscopic findings by the experts was 0.604 and that by the trainees was 0.493 (P = .050). There was no significant difference in the diagnosis according to the final pathology (lymphoma cases, 0.518 vs 0.440, P = .378; AGC cases, 0.690 vs 0.547, P = .089, respectively). In the subgroup analysis, the experts showed significantly higher diagnostic accuracy for the endoscopic Borrmann type 4 subgroup, including lymphoma or AGC cases, than the trainees (P = .001). Inter-observer agreement of final diagnosis (Fleiss kappa, 0.174) and endoscopic classification groups (Fleiss kappa, 0.123–0.271) was slightly and fair agreement.
The experts tended to have a higher endoscopic diagnostic accuracy. Distinguishing MGL from AGC based on endoscopic findings is difficult, especially for the beginners. Even if the endoscopic impression is AGC, it is important to consider MGL in the differential diagnosis.
Pharmacogenomics of statins and familial hypercholesterolemia
Authors: Chora Joana Rita , Bourbon Mafalda 
Published: February 2021

Purpose of review
To collect evidence on statin pharmacogenomics, and review what is known in this field for familial hypercholesterolemia (FH) patients.

Recent findings
There are well-known associations between specific single nucleotide polymorphisms involved in statin transport and metabolism and either adverse effects or altered lipid-lowering efficacy. However, the applicability of this knowledge is uncertain, especially in high-risk populations. There are alternative approaches to study plasma concentrations of statins and new insights on why some association studies fail to be replicated.

Summary
Statin therapy recommendations are not always followed in primary and secondary prevention and, even when followed, patients often fail to reach therapeutic target values. Considering the stringent 2019 European Atherosclerosis Society and European Society of Cardiology recommended target lipid levels, as well as the persistently high cost for alternative lipid-lowering therapies such as PCSK9 inhibitors, the variability in low-density lipoprotein cholesterol reductions on statin therapy is still an important factor that needs to be addressed to ensure better cardiovascular disease risk management, especially for FH patients, who have not been well studied historically in this context.
Ten tips for improving your clinical practice during the COVID-19 pandemic
Authors: Abrams Elissa M. , Singer Alexander G. , Greenhawt Matthew , Stukus David , Shaker Marcus 
Published: February 2021

Purpose of review
This review provides ten tips for improving clinical practice during COVID-19 as pandemic fatigue begins to complicate personal and professional lives of clinicians.

Recent findings
COVID-19 has created unique and unexpected challenges to healthcare delivery, but has also provided opportunities for re-evaluation of practice patterns to optimize high-value practices. With ongoing uncertainty, key factors to appreciate for patient and population health include the continued touchstones of empathy and compassion, the use of effective risk communication with shared clinical decision-making when appropriate, attention to resource stewardship and vulnerable populations, importance of health literacy and need for critical assessment of media and medical literature to mitigate misinformation, and the hidden costs of the pandemic on children. Although there has been some international concern for allergic reactions to the recently approved Pfizer-BioNTech COVID-19 vaccine, neither the United States Pfizer-BioNTech or Moderna COVID-19 vaccine emergency use authorizations exclude patients without a specific allergy to a vaccine component from receiving vaccination.

Summary
Practical adjustments to practice during COVID-19 are feasible and acceptable. Experience during COVID-19 reinforces the critical need for human connection while providing care and service in every encounter.
Benign Cysts of the Vulva and Vagina: A Comprehensive Review for the Gynecologic Surgeon
Authors: Aldrich Emily R. , Pauls Rachel N. 
Published: February 2021

Importance
Gynecologists are experts in providing care to women with vulvovaginal complaints. Cysts located in the vagina and vulva can cause pain and irritation and incite concern. Given the relatively low prevalence of these cysts in the population, helpful diagnostic and management information for providers is scarce.

Objective
This article will detail the epidemiology, embryology, presentation, and management of vulvovaginal cysts.

Evidence Acquisition
We completed a comprehensive literature review for all available data and included case reports, case series, histological studies, and descriptive articles obtained from PubMed and relevant textbook chapters.

Results
In general, cystic lesions of the vagina and vulva are typically benign and asymptomatic and do not require intervention. Special attention should be paid to cysts arising in women older than 40 years and those that are fixed or associated with pain or bleeding. Cysts that require management may require imaging, often either with transvaginal ultrasound or magnetic resonance imaging. Surgical excision, when necessary, has a high success rate.

Conclusions and Relevance
Vaginal and vulvar cysts have a myriad of presentations and etiologies. A thorough understanding of these is helpful to guide decisions about further testing and management options.

Target Audience
Obstetricians and gynecologists, family physicians

Learning Objectives
After completion of this CME article, the reader should be better able to assess the embryology underlying vulvovaginal cysts; describe the differing presentations of various vulvovaginal cysts; identify patient risk factors and clinical presentations that warrant further workup versus expectant management; and explain the benefits and pitfalls of various imaging modalities in imaging vulvovaginal cysts.
Impacts of the Affordable Care Act on Receipt of Women’s Preventive Services in Community Health Centers in Medicaid Expansion and Nonexpansion States
Authors: Hatch Brigit , Hoopes Megan , Darney Blair G. , Marino Miguel , Templeton Anna Rose , Schmidt Teresa , Cottrell Erika 
Published: February 2021

(Abstracted from Womens Health Issues 2021;31:9–16)
After implementation of insurance expansion provisions under the Affordable Care Act (ACA), rates of health insurance coverage increased dramatically throughout the United States in 2014 and improved care delivery for some services. Despite the availability of federally funded Medicaid expansion to all states, many did not accept ACA-sponsored expansion and opted to maintain current eligibility criteria in their states.
Antimicrobial Susceptibility of Neisseria gonorrhoeae in Japan from 2000 to 2015
Authors: Yasuda Mitsuru , Hatazaki Kyoko , Ito Shin , Kitanohara Masataka , Yoh Mutsumasa , Kojima Munekado , Narita Harunori , Kido Akira , Miyata Kazutoyo , Deguch Takashi 
Published: February 2021

BackgroundGonococcal infections are difficult to treat because of their multidrug antimicrobial resistance. The outbreak of antimicrobial-resistantNeisseria gonorrhoeaehas begun in Asia and particularly in Japan. Therefore, it is very important that we understand the trend of antimicrobial resistance ofN. gonorrhoeaein Asia including Japan. Our surveillance of the antimicrobial susceptibility ofN. gonorrhoeaebegan in 2000 under the guidance of the Department of Urology, Gifu University. We report our surveillance data from 2000 to 2015.MethodsWe collectedN. gonorrhoeaestrains isolated from patients with gonococcal infections who visited our cooperating medical institutions in Japan from 2000 to 2015. MICs of penicillin G, cefixime, ceftriaxone, tetracycline, spectinomycin, azithromycin, and levofloxacin were determined by the agar dilution method approved by the Clinical and Laboratory Standards Institute.ResultsFrom 2000 to 2015, 2471 isolates ofN. gonorrhoeaewere collected in Japan. High rates of nonsusceptibility to penicillin, tetracycline, levofloxacin, cefixime, and azithromycin were shown. Around 5% to 10% of the strains isolated had a 0.25-mg/L MIC of ceftriaxone in each year, and 6 strains (0.24%) with a 0.5-mg/L MIC of ceftriaxone were isolated throughout the study period. Approximately 5% to 10% of the strains were resistant to each of ceftriaxone, azithromycin, and levofloxacin according to European Committee on Antimicrobial Susceptibility Testing breakpoints, and the rate has not increased significantly.ConclusionsFrom this study and previous pharmacodynamic analyses, a single 1-g dose of ceftriaxone is recommended to treat gonorrhea. As strains with high-level ceftriaxone resistance continue to spread, higher doses of ceftriaxone in monotherapy or multiple doses of ceftriaxone should be considered.