bluuebunny/crossref_metadata_2025_split huggingface dataset:
Uncovering a new SASH1 mutation associated with dyschromatosis universalis hereditaria using whole-exome-sequencing: A case report
Authors: Yang Yue , Jiang Nan , Mai Jing Qun , Yang Shuo , Xiao Yuanyuan , Liu Shanling 
Published: August 2023

Rationale:
Dyschromatosis universalis hereditaria (DUH) is an uncommon form of pigmented genodermatosis that is typically inherited autosomally and dominantly. In the previous study, the pathogenic genes of DUH have been identified in ATP-binding cassette subfamily B, member 6 and SASH1. However, the mutational screening of the causative gene remains incomplete and still lacks sufficient proof in the etiology.

Patient concerns:
A 2-generation Chinese family clinically diagnosed with DUH were enrolled. They showed pigmented spots from their childhood and came to the hospital for medical advice and genetic analysis. We found a novel mutation c.1757T > C (p.I586T) of SASH1 in 3 affected family members by whole-exome sequencing.

Diagnoses:
Genetic outcomes and clinical examinations confirmed the diagnosis of DUH in 3 family members with lentiginous syndrome.

Interventions and outcomes:
Using whole-exome sequencing and sanger sequencing technologies, we identified a novel mutation c.1757T > C (p.I586T) of SASH1 that co-segregated in 3 afflicted family members but not in the normal individuals. Significantly, c.1757T > C (p.I586T) is a novel mutation which had not been previously reported. The same codon position in SASH1 (c.1758C > G, p.I586M) has been reported in a Japanese man, and he showed identical phenotype compared to our study participants.

Lessons:
Our study broadens the spectrum of DUH mutations and provides more genetic characteristics of DUH in understanding its etiology. Furthermore, we demonstrated the diagnostic accuracy of whole-exome sequencing for inherited skin diseases and provided new information for etiological study.
ANCA-negative eosinophilic granulomatosis with polyangiitis complicated by peripheral nerve damage: A case report
Authors: Chen Yongzhen , Wan Qiuxia , Liu Bo 
Published: August 2023

Rationale:
Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare autoimmune disease that can affect multiple systems of the body and is characterized by asthma, blood and tissue eosinophilia, and small vascular inflammation. Eosinophilic tissue infiltration and extravascular granuloma formation can lead to any organ damage, but peripheral neuropathy is relatively rare.

Patient concerns:
A 29-year-old male patient was admitted to the hospital due to fever and rash on both lower extremities for 18 days. The patient complained of muscle pain in both lower extremities, with nausea, anorexia, abdominal pain, and diarrhea. He had a 2-year history of asthma and bronchiectasis. The physical examination results were as follows: temperature, 37.8 °C; multiple patchy red rashes on both lower extremities; and no obvious abnormalities in other systems. The patient was negative for anti-neutrophil cytoplasmic antibody (ANCA). Chest computed tomography showed bilateral ground-glass opacities, small nodules, and bronchiectasis. Histopathology of rectal tissues revealed numerous eosinophilic infiltrations. One week after admission, the patient developed symptoms of peripheral nerve damage, presenting with distal weakness in both lower extremities, foot drop, cross-threshold gait, and hypoalgesia on the lateral sides of both lower legs. Electromyography showed that the motor sensory fibers of the lower extremities were damaged.

Diagnoses:
Referring to the diagnostic criteria of the American College of Rheumatology in 1990, the patient was diagnosed with systemic EGPA (vasculitic phase) with rare peripheral nerve damage.

Interventions:
After diagnosis, the patient was administered oral prednisone (60 mg/d; 1.0 mg/kg/d), and cyclophosphamide (900 mg) was infused on the 5th and 18th days of hormone therapy. Prednisone was reduced to 50 mg/d 1 month thereafter.

Outcomes:
After 1+ months of treatment, most of the symptoms disappeared. Limb weakness did not improve. Currently, the patient is undergoing outpatient follow-up and is adhering to treatment.

Lessons:
EGPA is a rare disease that can affect multiple systems and has diverse clinical manifestations, with no specific manifestations in the early stage. Diagnosis is difficult, and there is a high misdiagnosis rate. The rate of ANCA positivity for this disease is not high, and clinicians should consider the possibility of ANCA-negative EGPA.
Necrotizing fasciitis after total abdominal hysterectomy: A case report
Authors: Pantelić Miloš , Stojić Marko Sinisa , Petrović Đorđe , Mladenović-Segedi Ljiljana , Baturan Branislava , Tesić Igor , Golijan Borislav 
Published: August 2023

Rationale:
Necrotizing fasciitis is rapidly progressive infection with high mortality rate. This study aimed to summarize the clinical and pathological presentation of this case.

Patient concerns:
A 46-year-old woman patient presented to our emergency department of an obstetric and gynecology clinic on the 8th day after total abdominal hysterectomy. The abdominal wall showed pronounced signs of inflammation. Abundant purulent content was oozing from the abdominal wound.

Diagnoses:
The patient underwent surgery. Areas of necrosis were observed on the skin around the wound, the subcutaneous fatty tissue was necrotic around the incision site, and the fascia was completely dehisced.

Interventions:
Wound debridement and flap cutting of the anterior abdominal wall were performed. Metronidazole, ceftriaxone, and vancomycin were administered intravenously. A plastic surgeon suggested daily debridement and toileting of the wound in the operating room. Swabs of the abdominal cavity, abscess cavity, and abdominal wound were obtained, and Enterococcus faecalis was isolated. After the negativism of microbiological swabs, excochleation of granulation tissue was performed by a plastic surgeon.

Outcomes:
Nineteen days after the relaparotomy, the patient was discharged in good general condition with advice for further monitoring and therapy.

Lessons:
Successful treatment of necrotizing fasciitis can be achieved through an initial diagnosis, adequate debridement, empirical broad-spectrum antibiotic coverage, and multidisciplinary treatment.
Identification of novel immune-related biomarker and therapeutic drugs in Parkinson disease via integrated bioinformatics analysis
Authors: Yang Xiaoxia , Wang Zhiyun 
Published: August 2023

Background:
The present study was designed to identify immune-related biomarker and candidate drugs for Parkinson disease (PD) by weighted gene co-expression network analysis.

Methods:
Differentially expressed genes were identified in PD and healthy samples in the Gene Expression Omnibus (GEO) database. Besides, immune-related genes were obtained from the immunology database. Then, a co-expression network was constructed by the weighted gene co-expression network analysis package. Diagnostic model for PD was constructed by Lasso and multivariate Cox regression. Furthermore, differentially expressed genes (DEGs) were used to establish PPI and competing endogenous RNA (ceRNA) networks. Functional enrichment and pathway analysis were performed. Drug-hub gene interaction analysis was performed via DGIdb database.

Results:
PD samples and normal samples were found to have 220 upregulated genes and 216 downregulated genes in the GSE6613 dataset. The differentially expressed genes contained 50 immune-related genes, with 40 upregulated genes and 10 downregulated genes. We obtained 7 hub genes by intersecting the DEGs and candidate hub genes. As potential diagnostic markers, 2 immune-related DEGs were identified among the 7 hub genes. According to functional enrichment analysis, these DEGs were mainly enriched in immune response, inflammatory response, and cytokine-cytokine receptor interactions. Totally, we obtained 182 drug-gene interaction pairs in Drug-Gene Interaction database (DGIdb).

Conclusion:
Our results revealed crucial genes and candidate drugs for PD patients and deepen our understanding of the molecular mechanisms involved in PD.
Construction of gene subgroups of Crohn disease based on transcriptome data
Authors: Ma Jianglei , Zhang Huijie , Zhang Yuanyuan , Wang Guangming 
Published: August 2023

Background:
The global prevalence of Crohn disease (CD), a chronic inflammatory disease of the intestine, has been increasing; however, the etiology and pathogenesis of this disease have not been fully elucidated. Therefore, in the present study, we aimed to better understand the molecular mechanisms underlying CD to aid the development of novel therapeutic strategies for this condition.

Methods:
Based on the transcriptome data from patients with CD, this study used an unsupervised learning method to construct gene co-expression molecular subgroups and the R and SPSS software to identify the biological, clinical, and genetic characteristics and signatures of each subgroup.

Results:
Two subgroups were analyzed. Compared to subgroup II, subgroup I consisted of older patients with a more limited range of disease presentation and had a higher number of smokers. The specific genes associated with this subgroup, including CDKN2B, solute carrier family 22 member 5, and phytanoyl-CoA 2-hydroxylase, can be targeted for managing intestinal dysbacteriosis. The number of patients showing infiltrating lesions was higher, the number of smokers was lower, and CD severity was worse in patients in subgroup II than those in subgroup I. The specific genes relevant to subgroup II included cluster of differentiation 44, tryptophanyl-tRNA synthetase, and interleukin 10 receptor, alpha subunit, which may be related to viral infection.

Conclusion:
The present study segregated patients with CD into 2 subgroups; the findings reported herein provide a new theoretical basis for the diagnosis and treatment of CD and could aid a thorough identification of potential therapeutic targets for this disease.
Effects of occupational therapy on quality of life in breast cancer patients: A systematic review and meta-analysis
Authors: He Kang , Jiang Junjie , Chen Mengmeng , Wang Taiwei , Huang Xuemiao , Zhu Ruiting , Zhang Zhiyuan , Chen Junyu , Zhao Lijing 
Published: August 2023

Background:
The objective was to discuss the impact of occupational therapy on different domains of quality of life in breast cancer patients. We performed a literature search to identify articles published before June 27, 2023, using the following databases: PubMed, Embase, Web of Science, Cochrane Library, and Scopus.

Objective:
The objective was to discuss the impact of occupational therapy on different domains of quality of life in breast cancer patients.

Data sources:
We performed a literature search to identify articles published before June 27, 2023, using the following databases: PubMed, Embase, Web of Science, Cochrane Library, and Scopus.

Methods:
This study was reported following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. Randomized controlled trials that reported the effects of occupational therapy on quality of life in breast cancer patients were identified. Two reviewers independently assessed eligibility, extracted data, and determined risks of bias. Pooled standardized mean differences (SMDs) with 95% confidence intervals (CIs) were estimated using random-effects meta-analyses. Galbraith plots, meta-regression analysis, subgroup analysis, and sensitivity analysis were used to identify heterogeneity in treatment effects.

Results:
Eight studies were included, with a total of 543 patients. The experimental group exhibited better global health (pooled SMD = 0.640, 95% CI = 0.251–1.028, P = .001), physical health (pooled SMD = 0.640, 95% CI = 0.251–1.028, P = .019), social health (pooled SMD = 0.251, 95% CI = 0.011–0.490, P = .040), and cognitive function (pooled SMD = 0.863, 95% CI = 0.266–1.460, P = .05) and improve fatigue (pooled SMD = −0.389, 95% CI = −0.586 to −0.192, P = .000), and role function (pooled SMD = 0.287, 95% CI = 0.029–0.546, P = .029) than the control group. The 2 groups exhibited comparable emotional health (pooled SMD = 0.243, 95% CI = −0.051 to 0.536, P = .105) and pain (pooled SMD = −0.312, 95% CI = −0.660 to 0.036, P = .079).

Conclusion:
The current evidence shows that occupational therapy can improve the quality of life of breast cancer patients, especially their global health, physical health, social health, cognitive function, fatigue, and role function.
Recurrent osteoid osteoma of the index proximal phalanx: A case report with a new resection technique
Authors: Mouawad Joseph Antoine , Honeine Mohamad Omar Youssef , Ghanimeh Joe Georges , Audi Perla Naji , Khalil Khalil Tanios 
Published: August 2023

Rationale:
Osteoid osteoma is a relatively common benign bone-forming lesion that often occurs in young adults with a predilection for the lower limbs and spine. It is characterized by the formation of osteoid tissue, a precursor to bone, and can cause pain and restricted mobility in affected areas. Osteoid osteoma of the hand and fingers is rare, thus representing a diagnostic challenge. A written informed consent was provided from the patient’s father for the publication and sharing all images and clinical data concerning the patient.

Patient concerns:
We are reporting a case of an 11-year-old girl who presented with persistent pain and swelling in her left index finger, as well as limited mobility, over the course of 1 year. Nonsteroidal anti-inflammatory drugs eased the pain, but it resurfaced once the medication was discontinued.

Diagnoses:
A series of investigations, showed a lytic lesion at the second proximal phalangeal neck, with features indicative of osteoid osteoma.

Interventions:
Excision with bone grafting was performed as definitive therapy with pathological confirmation of the osteoid osteoma diagnosis. Nevertheless, the patient returned 2 years later with a recurrence of her previous symptoms, and further tests suggested a recurrence of osteoid osteoma. To address the recurrence, a modified open thermoablation technique was used. Thermoablation is a minimally invasive procedure that uses heat to destroy the tumor cells, and it has been shown to be effective in treating osteoid osteoma. The modified open approach involves making a small incision to access the tumor and delivering heat directly through a previously CT-guided inserted Kirschner wire to the affected area.

Outcomes:
The patient reported no pain at 1 month and 1 year after the surgery, with no radiological signs of recurrence, indicating complete excision of the lesion.

Lessons:
Overall, this case highlights the challenges of diagnosing and treating osteoid osteoma in the hands and fingers. Further research is needed to better understand the underlying causes, potential risk factors, and optimal treatment for osteoid osteoma recurrence.
Efficacy and safety of different subsequent therapies after fertility preserving surgery for endometriosis: A systematic review and network meta-analysis
Authors: Zheng Yu , Ma Ruyue , Xu Hong , Wang Lian , Zhang Lei , Mao Huiqun , Zhao Ruiheng 
Published: August 2023

Background:
Endometriosis (EMT) is a benign and common estrogen-dependent disease. Hormonal therapy improves pain symptoms in most women with EMT. However, in many cases, laparoscopic fertility preservation surgery is considered a common treatment for EMT. The present study aimed to evaluate the efficacy and safety of dienogest, leuprolide, danazol, gestrinone, mifepristone and levonorgestrel intrauterine system (LNG-IUS) in relieving symptoms and delaying the recurrence of EMT cysts after fertility protection surgery.

Methods:
We searched PubMed, the Cochrane Library, Web of Science, EMBase, China National Knowledge Infrastructure, VIP Database, China Biology Medicine disc, WanFang Data databases to collect randomized controlled trials (RCT) related to dienogest, leuprolide, danazol, gestrinone, mifepristone and LNG-IUS as a follow-up treatment after fertility preserving surgery for EMT. After literature screening, data extraction and quality evaluation, effective rate, recurrence rate, pregnancy rate and adverse reaction rate were used as outcome indicators to evaluate the efficacy and safety of drugs. Evidence networks included in the study were drawn and publication bias was assessed. The drugs most likely to be the best postoperative treatment were explored through mixed comparison of different drugs and efficacy ranking.

Result:
Effective rate: dienogest, leprerelin, gestrinone and LNG-IUS were better than placebo after EMT fertility preservation surgery; dienogest was superior to mifepristone and danazol. LNG-IUS is superior to danazol. LNG-IUS has the highest potential for improving the effectiveness of EMT symptoms. Recurrence rate: the application of dienogest, leuprolide, gestrinone, mifepristone and LNG-IUS after EMT fertility preservation surgery was lower than that of placebo; dienogest and LNG-IUS were lower than danazol. The recurrence rate of dinorgestrel was the last place with the highest performance. Pregnancy rate: in the cases with fertility requirements, dienogest and,leuprolide were better than placebo after EMT fertility preservation surgery; dienogest was superior to danazol, gestrinone and mifepristone. Leuprolide is superior to danazol and gestrinone. The first rank of dienogest pregnancy rate was the highest. Adverse reaction rate: the application of dienogest, leuprolide, danazol, gestrinone, mifepristone and LNG-IUS after EMT fertility preservation surgery was higher than that of placebo. After placebo, LNG-IUS had the highest adverse reaction rate.

Conclusion:
For patients after fertility preserving surgery for EMT, the recurrence rate of dienogest was the last place with highest preference. The first rank of dienogest pregnancy was the highest.
Transversus abdominis plane block versus local anesthetic infiltration for anesthetic effect in peritoneal dialysis catheter insertion: A systematic review and meta-analysis
Authors: Qi Qingling , Zhou Zijun , Qiao Yanheng , Ren Tong , Yang Bo 
Published: August 2023

Background:
The transversus abdominis plane (TAP) block is commonly used in surgical practice for postoperative analgesia in abdominal surgery. However, numerous studies have demonstrated that TAP block is also suitable for intraoperative anesthesia of peritoneal dialysis catheter (PDC) insertion, although its efficacy and safety are still controversial. Local anesthetic infiltration (LAI) is currently the most general anesthesia strategy for PDC insertion. Consequently, we conducted this systematic review and meta-analysis to identify which anesthesia strategy is better between TAP block and LAI.

Methods:
A systematic and comprehensive search was conducted on 5 databases, retrieving published and registered randomized controlled trials as of March 10, 2022, comparing the anesthesia effects of TAP block and LAI. The primary outcomes are the visual analogue scale (VAS) pain score of patients at various time points in the surgery. The secondary outcomes are the VAS pain score at rest at 2 and 24 hours postoperatively, intraoperative rescue anesthesia, general anesthesia switching rate, and PD-related complications.

Results:
There were 9 trials with 432 patients identified. TAP block was more effective than LAI at reducing intraoperative and postoperative VAS pain scores in patients. Compared to LAI, TAP block significantly reduces the dosage of anesthetics used to rescue anesthesia during surgery, the general anesthesia switching rate, and the incidence of postoperative PD-related complications in patients.

Conclusions:
Our systematic review and meta-analysis proved that TAP block could be used as the primary anesthetic technique for PDC insertion, with superior anesthetic effects to LAI.
Recurrent malignant solitary fibrous tumor of pelvis: A case report and treatment approach
Authors: Zhou Panpan , Xu Xiaopei 
Published: August 2023

Rationale:
Solitary fibrous tumors (SFTs) are rare mesenchymal neoplasms that typically arise from the pleura but can also occur in various locations throughout the body. Although there are increasingly more reports of extra-pleural SFTs, reports of SFTs in bone are very rare, and a malignant SFT accompanying recurrence of pelvis has not yet been reported.

Patient concerns:
We herein present the case of a 15-year-old male who experienced intermittent numbness in his right buttock, accompanied by radiating pain in his lower limbs for 6 months. Radiological examinations revealed an expansive, heterogeneous enhanced mass in the sacral and iliac regions, with a branch of the right internal iliac artery feeding the tumor.

Diagnoses:
The histological examination suggest a diagnosis of a malignant SFT with high proliferation activity.

Interventions:
The sacral mass was surgically excised.

Outcomes:
Following the surgery, the patient experienced a local recurrence of the tumor at 9 months and was administered adjuvant imatinib treatment. Recent magnetic resonance imaging contrast-enhanced displayed shrinkage of the tumor, which may provide certain evidence for chemotherapy for the treatment of recurrence of malignant SFTs in the pelvic region.

Lessons:
Complete surgical excision is the recommended treatment for this rare disease entity, and the role of adjuvant therapies is controversial due to their rarity. Our case underscores the challenges in managing recurrent malignant SFTs and highlights the importance of a thorough diagnostic workup. Further research is needed to establish the role of adjuvant therapies in the management of these tumors.
Serum IgG4-negative IgG4-related disease with a cardiac mass: A case report
Authors: Namba Kensuke , Sakai Daiki , Mikamo Hiroshi , Sugizaki Yuta , Sugiura Yoshiya , Hiruta Nobuyuki , Matsuzawa Yasuo , Kaneko Kaichi 
Published: August 2023

Rationale:
Although IgG4-related disease (IgG4-RD) can affect various organs, its association with a cardiac mass is exceptionally rare. Here, we report a case of a woman with IgG4-RD and a cardiac mass and discuss 10 similar cases reported previously.

Patient concerns:
A 65-year-old woman was referred to our hospital for chest discomfort and back pain.

Diagnoses:
In accordance with the 2019 ACR/EULAR diagnostic criteria for IgG4-RD, she was diagnosed with IgG4-RD based on dense lymphocytic infiltration on histopathology, IgG/IgG4-positive cell ratio <40%, >10/hpf IgG4-positive cells on immunostaining, and paraspinal zone soft tissue lesions in the chest.

Interventions:
An external pacemaker was implanted for the complete atrioventricular block on the electrocardiogram. After the diagnosis of IgG4-RD, she was treated with glucocorticoids and rituximab.

Outcomes:
She remains under observation without disease recurrence.

Lessons:
IgG4-RD are usually treated with glucocorticoids; however, in cases of a cardiac mass, life-threatening complications may occur and surgery is often needed. Combination therapy with glucocorticoids and rituximab may be effective even in patients with IgG4-RD and cardiac mass, which may avoid the need of invasive treatments, such as surgery.