bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hearing loss in patients with Morquio A syndrome: A scoping review
Authors: Diaz-Ordoñez Lorena , Duque-Cordoba Paola Andrea , Silva-Cuero Katherine , Gutierrez-Medina Juan David , Saldarriaga Wilmar , Murgašová Lenka , Magner Martin , Candelo Estephania , Pachajoa Harry 
Published: January 2025

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.

Methods:
Targeted literature was searched using MEDLINE, Literatura Latino-Americana e do Caribe em Ciências da Saúde, Web of Science, the Cochrane Library, Trip Medical Database, Embase, ScienceDirect, and Google Scholar, with a second search cycle to identify gray literature. A systematic search strategy using Medical Subject Headings keywords was implemented: “Hearing Disorders” OR “Hearing Loss” AND “Mucopolysaccharidosis IV” or “Hearing Disorders” OR “Hearing Loss” AND “Mucopolysaccharidosis IV.” The identified bibliography was uploaded to COVIDENCE platform for information management. Articles were screened by 3 independent reviewers following the eligibility criteria.

Results:
Twenty-seven articles met the inclusion criteria, spanning information from 568 patients across 16 different countries. None of the studies had complete epidemiological information. Only 2 studies provided sufficient data to address the pathophysiology, while 3 addressed management and treatment. Hearing loss was reported in 210 of 568 patients. A total of 19.2% of patients reported recurrent ear infections. None of the studies reported vertigo, tinnitus, or dizziness in the patients. Pure-tone audiometry was the primary test used to diagnose and monitor auditory impairment in patients with Morquio syndrome.

Conclusions:
Five hundred sixty-eight patients with MPS IVA were identified, of whom 210 (37%) developed hearing loss, the most common of which was moderate. Despite the lack of information on the diagnosis and management of hearing loss in Morquio syndrome, this study found that approximately one-third of participants exhibited some form of auditory impairment, with the majority of these cases being sensorineural in nature.
Refractory small cell lung cancer with pancreatic metastasis: A case report
Authors: Xiao Zhimin , Gu Yan 
Published: January 2025

Rationale:
The occurrence of refractory small cell lung cancer (rSCLC) with pancreatic metastasis is a relatively rare clinical condition, which is typically accompanied by a poor prognosis and rapid disease progression.

Patient Concerns:
A 65-year-old male farmer from China was diagnosed with limited-stage small cell lung cancer (SCLC) 8 months ago. Following 6 cycles of EP chemotherapy, the patient’s tumor response showed partial relief. He discontinued chemotherapy for 2 months and subsequently experienced abdominal pain for 1 month.

Diagnoses:
A computed tomography scan revealed a malignant tumor in the lower lobe of the right lung, as well as low vascular nodules in the pancreas, which are suspected to be metastases. Laboratory tests indicated elevated levels of amylase and lipase, along with abnormalities in 5 indicators associated with lung cancer.

Interventions:
Upon admission, the patient received active treatment for pancreatitis. Given the progression of the tumor, salvage chemotherapy was initiated, combining albumin with paclitaxel and attilizumab, in consultation with a multidisciplinary team (MDT).

Outcomes:
Abdominal pain was significantly reduced, and levels of amylase and lipase returned to normal, while neuron-specific enolase levels decreased. However, during subsequent follow-up, enlarged pancreatic lesions were identified, necessitating a reevaluation of treatment strategies.

Lessons:
This case study highlights the challenges associated with treating rSCLC that has metastasized to the pancreas. Although targeted therapy for metastasis-induced pancreatitis and systemic chemotherapy can alleviate symptoms and enhance patients’ quality of life, continuous monitoring and optimization of treatment plans are essential for managing this aggressive disease. The findings emphasize the importance of a multidisciplinary approach in diagnosing and treating such complex cases, underscoring the necessity for personalized treatment strategies to address both the primary cancer and its metastatic complications.
Hyperprolactinemia complicated with peliosis hepatis: One case report and review of literature
Authors: Li Xun , Lv Yang , Xia Yu , Lai Yulian , Chen Shangbin , Xie Yinzi , Tang Ziwei , Cheng Qingfeng 
Published: January 2025

Rationale:
Peliosis hepatis (PH) is a rare disease with few clinical reports and complex etiology. However, there have been no reports of hyperprolactinemia (HPRL) leading to PH at present. This paper, through case reports, expands the understanding of the etiology of PH and the pathological damage effect of prolactin (PRL).

Patient Concerns:
The patient reported in this paper had jaundice, menstrual disorders, menopause, weight gain, and other symptoms. Laboratory examination found increased levels of PRL and transaminase in liver function, and imaging examination indicated pituitary tumor and PH.

Diagnoses:
Comprehensive patient history and auxiliary examination, the clinical diagnosis was pituitary PRL tumor and PH.

Interventions and Outcomes:
After treatment with bromocriptine, menstruation recovered and liver function returned to normal. In addition, the follow-up imaging examination indicated that pituitary tumors and PH lesions were shrinking, and clinical phenomena indicated that HPRL caused by pituitary prolactinoma was correlated with PH occurrence.

Lessons:
Since there is no report of HPRL causing PH, the specific pathogenesis is unknown. This paper reviews the relevant literature and puts forward the theoretical consideration of the pathogenesis. Through this case, for clinically similar patients, it is warned that we need to consider the possibility of PH and further improve the examination, evaluation and treatment in time.
All-positive HBsAg, HBsAb, HBeAg, HBeAb, and HBcAb in a patient with hepatitis B: A case report
Authors: Wang Fenfang , Zhang Qianchun , Zhang Ju , Yang Penghui , Pan Fei , Ren Xuefang , Yuan Hang , Chang Zhongbao 
Published: January 2025

Rationale:
Mass vaccination, low cost of immunoglobulins, and new drugs led to the emergence of new, unusual patterns of hepatitis B serum markers. This study reported a rare case of hepatitis B with all 5 positive serum markers, including HBsAg, HBsAb, HBeAg, HBeAb, and HBcAb.

Patient concerns:
A 30-year-old female patient was admitted due to abnormal liver function. The 5 serum markers were all positive (+), including HBsAg, HBsAb, HBeAg, HBeAb, and HBcAb. After antiviral therapy, she was discharged with normal liver function and decreased hepatitis B virus-DNA levels, but all 5 serum markers were still positive. Regular follow-up was conducted every 3 months.

Diagnoses:
Abnormal liver function.

Interventions:
The patient received antiviral treatment and liver protection therapy using entecavir dispersive tablet 0.5 mg po qd and glycyrrhizate diamine enteric capsule 150 mg po tid.

Outcomes:
The patient’s liver function was normal, hepatitis B virus-DNA continued to decline, and HBeAb turned negative at 6 months. After 9 and 12 months of follow-up, the results of hepatitis B markers in the patient were stable in HBsAg positive (+), HBeAb positive (+), and HBcAb positive (+).

Lessons:
The rare pattern of all 5 positive hepatitis B markers may occur in patients with chronic hepatitis B. Improvements can be achieved using first-line drugs and conventional treatment. Nevertheless, more attention should be paid to the patient’s condition.
Gitelman syndrome with diabetes and kidney stones: A case report
Authors: Wu Huishan , Ye Xiongwei , Li Meng 
Published: January 2025

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.

Patient concerns:
A 48-year-old male patient suffered from unexplained hypokalemia for >10 years.

Diagnoses:
The patient was diagnosed with GS, type 2 diabetes mellitus, and kidney stones.

Interventions:
He was given potassium chloride sustained-release tablets and potassium magnesium aspartate tablets.

Outcomes:
His irregular potassium supplementation and hypoglycemic therapy resulted in poor control of potassium and blood glucose levels.

Lessons:
When unexplained hypokalemia is observed, the HCT test can help with the diagnosis of GS. When genetic testing reveals that a patient only carries only 1 SLC12A3 mutant allele, he requires further genetic evaluation. The patient’s combination of kidney stones and cysts could not exclude the diagnosis of GS. Patients with GS and diabetes should be monitored for the development of diabetic ketoacidosis.
Large recurrent sialoliths in a residual Wharton duct after sialoadenectomy: Two case reports and literature review
Authors: Su Li-Wen , Sun Huan , Zhang Hong-Yu , Wu Yang 
Published: January 2025

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. After sialoadenectomy, the recurrence of salivary gland stones is extremely rare. Although there are some relevant speculations, to the best of our knowledge, there are no comprehensive reports of larger recurrent stone-related cases available.

Patient concerns:
We present 2 instances of recurrent sialoliths in the residual Wharton duct following sialoadenectomy. In our cases, it was not until several years later that both patients presented with symptoms. The patients, a 51-year-old male and a 28-year-old female, presented with swelling and purulent discharge in the right floor of the mouth.

Diagnoses:
Computed tomography scans revealed irregular high-density masses in the floor of the mouth, indicative of sialolithiasis.

Interventions:
The intraoral incision exposed the recurrent sialoliths, which were successfully removed along with the residual duct.

Outcomes:
There were no complications in both cases.

Lessons:
This report aims to clarify potential mechanisms behind recurrent sialoliths in residual Wharton ducts after submandibular gland excision, warranting further investigation to improve patient management. New stones may form again in the residual duct even if the glands were removed. With the risk of recurrent sialoliths after resection of the gland, multiway preventive management can optimize outcomes.
Audio-Based Care for Managing Diabetes in Adults
Authors: Reddy Shivani , Booth Graham , Coker-Schwimmer Manny , Kugley Shannon , Rodriguez-Borja Ivette , Patel Sheila V. , Fujita Miku , Philbrick Sarah , Ruwala Richa , Albritton Jordan A. , Crotty Karen 
Published: January 2025

Objectives:
We compared the effectiveness of audio-based care, as a replacement or a supplement to usual care, for managing diabetes.

Background:
Diabetes is a chronic condition afflicting many in the United States. The impact of audio-based care on the health of individuals with diabetes is unclear, particularly for those at risk for disparities—many of whom may only be able to access telehealth services through telephone.

Methods:
We used systematic review methods to synthesize available evidence. We systematically searched for English-language articles from 2012 reporting randomized controlled trials of adults diagnosed with diabetes. We abstracted data on clinical outcomes (including A1c), patient-reported health and quality-of-life, health care access and utilization, care quality and experience, and patient safety.

Results:
Evidence for replacing in-person care with audio care was limited (n = 2), with low certainty of evidence for greater and comparable effectiveness for A1c and harms, respectively. Supplemental audio care (n = 23) had a positive effect on A1c (pooled mean difference A1c −0.20%; n = 8763; 95% CI: −0.36% to −0.04%), with moderate certainty of evidence. Stratified results indicated that audio interventions supplementing usual care performed more favorably in individuals with A1c ≤ 9%; populations not at risk of disparities; interventions with at least monthly contact; and interventions using remote monitoring tools.

Conclusions:
This evidence base reveals some promise for managing diabetes with audio-based care as a supplement to in-person care. Future studies could further investigate the effectiveness of audio-based care as a replacement and modify interventions to better serve individuals with poor glucose control and those at risk for disparities.
A Survey of Sedation Practices for Adolescents and Young Adults With Acute Lymphoblastic Leukemia Undergoing Lumbar Puncture
Authors: Salik Irim , Blizard Aaron J. , Abramov Rozalia , Khan Aleena , Drugge Elizabeth , Rosenblum Jeremy 
Published: January 2025

Purpose:
Lumbar puncture is a frequently performed procedure for patients undergoing treatment for acute lymphoblastic leukemia. This brief procedure is frequently performed with sedation in young patients but with only local anesthesia in adults. Adolescent and young adult patients may be cared for by physicians with different training backgrounds and sedation preferences, making the utilization of sedation for lumbar punctures variable among providers. The benefits of sedation for young adults with leukemia undergoing lumbar puncture (analgesia, anxiolysis, safety) must be weighed against the obligate fasting interval, hospital cost, and resource allocation that is required.

Methods:
We conducted a survey of pediatric and medical oncologists who care for patients with acute lymphoblastic leukemia to assess their use of sedation for adolescents and young adults undergoing lumbar punctures as part of their cancer therapy. (see Supplemental Digital Content 1, http://links.lww.com/JPHO/A723).

Results:
Twenty-six percent of pediatric oncologists and 28% of medical oncologists completed the survey. Pediatric oncologists were more likely to perform lumbar punctures under sedation as compared with medical oncologists. This pattern remained consistent across all patient age ranges surveyed, despite no significant difference in the expected cumulative number of lumbar punctures that a patient was to undergo. Medical oncologists reported topicalization with local anesthetics before lumbar puncture more often than pediatric oncologists.

Conclusion:
Sedation practices for lumbar puncture during acute lymphoblastic leukemia treatment varies by specialty of treating oncologist.
Knowledge, Attitude, and Practice of Patients Suffering From Sickle Cell Disease in an Endemic Zone
Authors: Nirmal Garima , Pendharkar Dinesh , Gupta Neha , Raj Abhishek 
Published: January 2025

Background and Objective:
Sickle cell disease (SCD) is a genetically inherited disorder that is associated with morbidity and mortality.

Methods:
This cross-sectional study was conducted on patients diagnosed with SCD to evaluate the knowledge, attitude, and practice of patients/guardians using a pretested questionnaire.

Results and Discussion:
Of the 111 participants, 56 (50.4%) were male. Forty-five participants reported SCD as a hereditary disease, and only 31 (37%) subjects reported that SCD could be prevented. Fourteen (70%) married patients reported that their children had been screened. Ninety-three (84%) children reported fatigue in the past 1 year. Seventy-four of them reported no absence from work/school in the past 1 year. Fifty-seven participants (52%) experienced 1 to 4 episodes of pain in the past 1 year, 62 and the majority (55.86%) of them visited a nearby doctor for the pain episode. Ninety-four participants were taking regular hydroxyurea as medication, and 72% had not missed any dose in the past 1 month, while 14.4% missed 1 to 2 doses in the past 1 month. Only 19 participants (17%) were aware that transplantation was a curative option. The majority (78%) reported undergoing blood and other investigations irregularly in the preceding year.

Conclusions:
The knowledge and attitude of patients/guardians regarding the nature of the disease, preventive measures, curative options for transplantation, and screening of family members are low. At the same time, most people are educated. In contrast to the world data, adherence to hydroxyurea is extremely good. Patient and family education and counseling are the needs of the hour.
Psychogenetic Features of Heredity and Pathology
Authors: Spytska Liana 
Published: January 2025

Abstract
The purpose of this study is to provide an in-depth examination of the complex aspects of hereditary and pathological conditions arising based on psychogenetic factors, in particular, the disclosure of elements that determine the causes of their appearance. The following methods were used in the study: analytical, typological approaches, and generalization. It was found that genetic inheritance plays a significant role in the occurrence of autism spectrum disorders, bipolar disorder, schizophrenia, and other pathologies. The study revealed that the presence of a hereditary predisposition significantly increases the risk of developing these disorders in offspring. Genetic variations can affect various aspects of mental functioning and the molecular processes underlying these disorders. However, the important role of environmental factors in interaction with genetics has also been revealed. As part of this study, a plan was developed for a psychotherapist to work with parents raising a child with a mental disorder.
Experiences of adult patients with cancer at a specialized cancer care facility in Uganda
Authors: Naamala Allen M. , Kabir Zarina N. , Orem Jackson , Nalwadda Gorrette K. , Muwanguzi Patience A. , Wettergren Lena 
Published: January 2025

Abstract

Background:
The experiences of adult cancer patients in low-income countries regarding health care and infrastructure are largely undocumented. This study aimed to describe the experiences of adult men and women receiving treatment at a specialized cancer facility in Uganda.

Method:
Thirty-two adult patients with cancer (≥18 years) with varying cancer diagnoses participated in 5 focus group discussions and a key informant interview at Uganda's specialized oncology facility. The interactions were audio-recorded, transcribed verbatim, and analyzed using thematic analysis.

Results:
The participants had both advanced and early stage cancers of varying ages (19–79 years). Four themes emerged: the Organization of care, Personal challenges, Mental suffering, and Satisfaction with care. The Organization of Care theme included categories describing rough sleep, poor food supply, inadequate facilities, and drug shortages. Personal challenges include high treatment costs and delays in accessing care. Mental suffering comprises of 4 categories: stigma, isolation, abandonment, and emotional distress. Satisfaction with care included improve health outcomes and professionalism.

Conclusion:
Participants predominantly reported negative experiences, whereas those with early stage disease primarily emphasized positive experiences. It is imperative for nurses to heighten their awareness of cancer and its treatment, cultivate empathy, and engage positively with both patients and their families. Further research on healthcare professionals' experiences regarding cancer care is needed to gain a comprehensive understanding of cancer care in Uganda.
Limited Evidence of Functional Benefit After Upper Limb Botulinum Toxin Treatment in Children With Cerebral Palsy
Authors: Gresits Orsolya Zsuzsanna , Vezér Mátyás , Engh Marie Anne , Szabó László , Molnár Zsolt , Hegyi Péter , Terebessy Tamás 
Published: January 2025

Objectives
This systematic review and meta-analysis of randomized controlled trials aimed to summarize the reported functional effects of upper limb botulinum toxin treatment in children with spastic cerebral palsy.

Design
Six databases were searched in October 2022. Two independent authors screened and extracted data on upper limb function, body function, life quality, muscle tone, spasticity, goals, pain, adverse events, and client satisfaction. A random effect model meta-analysis was performed, and RoB 2 and GRADE pro tools were used.

Results
A total of 4862 publications were screened, 14 trials (621 patients) included. Pooled analyses confirm a decrease in muscle tone: mean difference Ashworth scale wrist −0.85 (95% confidence interval = −1.42 to −0.27). No significant functional gain was established: Melbourne Assessment mean difference 3.13 (95% confidence interval = −3.13 to 9.3), and Assisting Hand Assessment mean difference 3.84 (95% confidence interval = −1.86 to 9.54). Botulinum toxin groups had better goal achievement: Goal Attainment Scaling T scores mean difference 9.55 (95% confidence interval = 6.05 to 13.04) and better client satisfaction: improvement had an odds ratio of 8.44 (95% confidence interval = 1.34 to 53.08).

Conclusions
Results suggest that upper limb botulinum toxin treatment is effective to decrease muscle tone, but functional benefits are not clearly established. The discrepancy between subjective and objective results requires further investigation.
Decreasing Unnecessary Resource Utilization for New-onset, Unprovoked, Afebrile Seizure in the Emergency Department
Authors: Santry Laura A. , Giordano Kathryn , Mower Andrew , Hubbard Jennifer , Thomas James , Scott Rodney C. , Chara Karina , Zent James , Zomorrodi Arezoo 
Published: January 2025

Introduction:
Pediatric seizures account for approximately 1% of emergency department (ED) presentations. Laboratory evaluation and emergent electroencephalogram (EEG) are not indicated in patients with a new-onset, unprovoked, afebrile seizure with a normal physical examination. This study aimed to reduce unnecessary ED resource utilization.

Methods:
Through plan-do-study-act cycles from March 2021 to July 2023, a multidisciplinary team implemented change concepts, including creating a clinical pathway and supporting order sets, scheduling outpatient EEGs from the ED, and automating messages to the neurology team to ensure patient follow-up. The primary outcome measure was the percentage of qualified patients who received an EEG in the ED. Secondary outcome measures were the percentage of patients who had ED complete blood counts or neurology consults, the room-to-discharge time in minutes, and healthcare cost per patient. The balancing measure was the 30-day ED bounce-back rate.

Results:
Thirty-four and 99 patients met the inclusion criteria for the baseline and implementation phases, respectively. ED EEGs decreased from 59% to 1%. Complete blood counts and neurology consults decreased from 50% to 16% and 90% to 31%, respectively. Room-to-disposition time decreased from 308 to 203.5 minutes. Preliminary healthcare cost per patient decreased by $630. The 30-day bounce-back rate increased from 0% to 8%.

Conclusions:
Implementing a new-onset seizure pathway decreased ED resource utilization, shortened room-to-discharge time, and lowered healthcare costs.