Abdominal pain as a novel manifestation in children with PCDH19-related epilepsy: A case report.

Rationale: PCDH19-related epilepsy manifested various clinical features, including febrile epilepsy, with or without intellectual disability, and psych-behavioral disorders. However, there are few studies demonstrating abdominal pain as the first symptom.

Patient Concerns: A 3-year-old Chinese girl presented with clustered seizures of fever sensitivity accompanied by abdominal pain.

Treatment of very high risk membranous nephropathy complicated by pulmonary embolism with glucocorticoids and rituximab: Case report.

Rationale: We report the efficacy of combination prednisolone and intravenous (IV) rituximab as an immunosuppressive regimen for a young male presenting with extensive venous thromboembolism including a submassive pulmonary embolism secondary to life-threatening nephrotic syndrome from very high risk anti-phospholipase-A2 receptor (PLA2R) positive membranous nephropathy. Initial treatment was with mechanical thrombectomy and anticoagulation. Thereafter, oral prednisolone was initiated to induce remission, during a period of uninterrupted anticoagulation.

Large recurrent sialoliths in a residual Wharton duct after sialoadenectomy: Two case reports and literature review.

Rationale: When gland-preserving treatments are unsuccessful, sialoadenectomy is typically conducted for patients afflicted with submandibular gland diseases. The definitive treatment modality for these individuals is the removal of both the gland and the associated ducts. During surgery, the gland and the majority of the ducts can be excised utilizing the lateral transcervical approach, with residual ducts unlikely to develop pathology.

Development of endosome-related gene signature for the prediction of prognosis and therapeutic response in breast cancer.

Endosomes play a pivotal role in cellular biology, orchestrating processes such as endocytosis, molecular trafficking, signal transduction, and recycling of cellular materials. This study aims to construct an endosome-related gene (ERG)-derived risk signature for breast cancer prognosis. Transcriptomic and clinical data were retrieved from The Cancer Genome Atlas and the University of California Santa Cruz databases to build and validate the model.

Distinct prognostic impacts of age-adjusted Charlson comorbidity index and geriatric nutritional risk index in patients with intraductal papillary mucinous neoplasm.

The optimal surgical indication for intraductal papillary mucinous neoplasms (IPMN) remains highly contentious. We aimed to determine the preoperative predictive factors of malignancy and independent prognostic factors in patients with IPMN who underwent curative-intent resection. In this study, 104 patients with a pathological diagnosis of IPMN who underwent curative-intent resection were included.

Residents' willingness and awareness to participate in internet+nursing service in China: A meta-analysis.

Background: The internet + nursing service is an important initiative for implementing the strategy of healthy China and actively responding to the aging of the population. However, the current literature on residents' awareness and willingness to participate is insufficient and presents large variations and limitations. Therefore, this study aims to systematically evaluate the awareness and willingness of Chinese residents to participate in internet + nursing service to comprehensively understand the level of awareness and acceptance of this emerging service model among Chinese residents and to provide strong support for relevant policy formulation and service optimization.

Causal relationship between rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis and risk of prostate cancer: Multivariable and bidirectional Mendelian-randomization analyses.

Previous studies have suggested an association between autoimmune diseases (AIDs) and the risk of prostate cancer (PCa). However, the causal relationship between AID and PCa remained unclear. The purpose of this study was to investigate the causal association between 3 common AIDs, including rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and ankylosing spondylitis (AS), and the risk of PCa.

Primary malignant melanoma of the vagina: A case report of a rare disease that is difficult to diagnose.

Rationale: Malignant melanoma is a rare cancer that accounts for approximately 1% of all cancers. Primary malignant melanoma of the female genital tract accounts for approximately 3% to 7% of all malignant melanomas, and 0.3% to 0.

De novo KCNB1 missense variant causing developmental and epileptic encephalopathy: Two case reports.

Rationale: Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE.

Retrospective analysis of clinical characteristics and treatment differences between severe and non-severe neonatal types of pneumonia with RSV infection.

Understanding the differences between children with severe and non-severe types of neonatal pneumonia is crucial for clinical treatment and disease management. In this study, we retrospectively analyzed the clinical data of infants with neonatal pneumonia diagnosed as respiratory syncytial virus infection at Wuhan Children's Hospital between December 1, 2022 and November 30, 2023. Further, the recruited subjects were categorized into severe and non-severe groups based on the severity score.

Tailoring glaucoma education using large language models: Addressing health disparities in patient comprehension.

This study evaluates the efficacy of GPT-4, a Large Language Model, in simplifying medical literature for enhancing patient comprehension in glaucoma care. GPT-4 was used to transform published abstracts from 3 glaucoma journals (n = 62) and patient education materials (Patient Educational Model [PEMs], n = 9) to a 5th-grade reading level. GPT-4 was also prompted to generate de novo educational outputs at 6 different education levels (5th Grade, 8th Grade, High School, Associate's, Bachelor's and Doctorate).

Laparoscopic cholecystectomy for triple gallbladder malformation: A comprehensive case report and literature review.

Rationale: Triple gallbladder is a rare congenital anatomical abnormality because of the incomplete regression of rudimentary bile ducts and is often not found until it is accidentally detected during imaging research.

Patient Concerns: We report a rare case of triple gallbladder malformation and review the English literature on biliary tract variation caused by gallbladder malformation. The diagnosis, treatment, and postoperative situation of the patients were summarized and analyzed.

Paraspinal synovial sarcoma mimicking tuberculosis: A case report and literature review.

Rationale: Synovial sarcoma (SS) is a rare and highly malignant soft tissue sarcoma. When SS occurs in atypical locations, it can present significant diagnostic challenges. We report a case of paraspinal SS initially misdiagnosed as spinal tuberculosis, highlighting the diagnostic difficulties and the importance of considering SS in the differential diagnosis.

Efficacy of modified posterior shoulder stretching exercises on shoulder function in subacromial impingement syndrome: A comprehensive meta-analysis.

Background: Subacromial impingement syndrome (SIS) is a common cause of shoulder pain and dysfunction. Modified posterior shoulder stretching exercises have been proposed as a treatment method aimed at improving shoulder function and reducing pain in patients with SIS. However, the efficacy of these exercises remains controversial, necessitating a systematic meta-analysis to comprehensively evaluate their effectiveness.

Maternal X chromosome pericentric inversion resulting in the genetic analysis of offspring pedigrees with deletions at Xp22.33 and Xp22.33p11.3, and duplications at Xq27.3q28: Case report.

Rationale: This study investigates the genetic cause of primary infertility and short stature in a woman, focusing on maternal X chromosome pericentric inversion and its impact on offspring genetic outcomes, including deletions at Xp22.33 and Xp22.33p11.

Hearing loss in patients with Morquio A syndrome: A scoping review.

Background: Hearing impairment is a prevalent clinical feature in Morquio syndrome (mucopolysaccharidosis IVA or MPS IVA) patients, often presenting in diverse forms: conductive, sensorineural, or a combination known as mixed hearing loss. The mixed form entails a blend of both conductive and sensorineural elements, typically exhibiting a progressive trajectory. This scoping review aimed to comprehensively analyze available evidence pertaining to the pathophysiology, classification, epidemiology, and clinical management of hearing loss in individuals with MPS IVA.

Analysis of factors affecting early necrosis of the affected finger after surgery in patients with reimplantation of severed fingers.

The study aimed to investigate the factors associated with early necrosis of the finger after reimplantation of broken fingers. Sixty-seven cases of reimplantation of severed fingers in our hospital between January 2023 and December 2023 were retrospectively analyzed. All patients underwent reimplantation of severed fingers and were divided into early necrosis group and non-necrosis group according to the presence or absence of early necrosis of the finger body 7 days after surgery.

Public perceptions and attitudes of drive-through pharmacy services: Insights from a cross-sectional survey in Saudi Arabia.

Disease-related fatalities in Saudi Arabia (SA) are on the rise, with 28% of all deaths attributed to cardiovascular diseases, followed by cancer, diabetes, and chronic respiratory disorders. In response to this issue, pharmacy dispensing practices have been significantly altered. One such innovative approach is the drive-through pharmacy service.

The effect of 4-phenylbutyrate and sodium 4-phenylbutyrate on genetic mutation diseases: A meta-analysis.

Background: To determine the efficacy of 4-phenylbutyrate (4-PB) or sodium 4-phenylbutyrate (SPB) in treating diseases caused by genetic mutations.

Methods: We searched PubMed, Web of Science, Cochrane Library, and EMBASE for studies of patients with genetic mutations treated with 4-PB or SPB. All data were tested using RStudio software.

Acute upper gastrointestinal bleeding: Analysis of 462 hospitalized Chinese patients in Shanghai.

While acute upper gastrointestinal bleeding (AUGIB) remains clinically critical, the etiology of bleeding and risk factors for mortality remain uncertain. This study aimed to evaluate the underlying causes of AUGIB and identify risk factors associated with fatality. A retrospective survey was conducted in a major clinical hospital in Shanghai, where inpatients diagnosed with AUGIB were meticulously collected and analyzed.

Gitelman syndrome with diabetes and kidney stones: A case report.

Rationale: Gitelman syndrome (GS) is a rare hereditary electrolyte disorder caused by mutations in the SLC12A3 gene. There is limited literature on the role of hydrochlorothiazide (HCT) testing and the SLC12A3 single heterozygous mutation in the diagnosis and management of patients with GS. In addition, cases of GS with concomitant kidney stones are rare.

Impact of the COVID-19 pandemic on the mental health of Nursing students: A systematic review and meta-analysis.

Background: There is an increased prevalence of mental health problems in various population groups as a result of the COVID-19 pandemic and its consequences, especially regarding anxiety, stress, depression, fear, and sleep disturbances, require to be investigated longitudinally.

Objective: This study aimed to determine the impact that the COVID-19 pandemic had on the mental health of Nursing students, as well as to examine other associated factors such as anxiety, fear, sleep disturbances, and coping strategies.

Method: This systematic review and meta-analysis were designed following the PRISMA guidelines and were registered in PROSPERO with code CRD42024541904.

Predictive value of preoperative circulating tumor cells combined with hematological indexes for liver metastasis after radical resection of colorectal cancer.

Colorectal cancer is one of the most common malignant tumors in the world, and about 50% of its advanced patients will have liver metastasis. Preoperative assessment of the risk of liver metastasis in patients with colorectal cancer is of great significance for making individualized treatment plans. Traditional imaging examinations and tumor markers have some limitations in predicting the risk of liver metastasis.

Spontaneous retroperitoneal hematoma after COVID-19 infection: A case report.

Rationale: Spontaneous retroperitoneal hematoma (SRH) is a rare but potentially fatal condition, often associated with anticoagulation therapy. With the global prevalence of COVID-19 and the widespread use of anticoagulants in its management, there is an increasing need to recognize rare but serious complications like SRH. This case report aims to emphasize the importance of early recognition and intervention of SRH in patients with COVID-19 undergoing anticoagulation therapy, to improve patient outcomes and reduce mortality.

Internal fixation vs manual reduction in the treatment of ankle fracture healing and inflammation: A case-control study.

Ankle fractures are among the most common bone injuries, which are often accompanied by soft tissue injuries. Proper management of these fractures is crucial to promote healing and minimize complications. This study explores the effects of 2 treatment methods for ankle fractures: open reduction and internal fixation and manual reduction followed by plaster external fixation.