bluuebunny/crossref_metadata_2025_split huggingface dataset:
Retinitis pigmentosa associated with the EYS C2139Y variant: an important cause of blindness in East Asian populations.
Authors: Chan Choi Mun , Tan Tien-En , Jain Kanika , Bylstra Yasmin , Mathur Ranjana S. , Tang GDN Rachael W.C. , Lee Brian J.H. , Jamuar Saumya S. , Kam Sylvia , Vithana Eranga N. , Lim Weng Khong , Fenner Beau J. 
Published: July 2023

Purpose:
The study aimed to describe the phenotypic features of retinitis pigmentosa (RP) associated with the previously described EYS C2139Y variant in Singaporeans and establish the importance of this variant as a prevalent cause of RP among East Asians.

Methods:
A clinical phenotyping and exome sequencing study was conducted on consecutive patients with non-syndromic RP. Epidemiological analysis was performed using Singaporean and global population-based genetic data.

Results:
A study of 150 consecutive unrelated individuals with non-syndromic RP found that 87 (58%) of cases had plausible genotypes. A previously described missense variant in the EYS gene, 6416G>A (C2139Y), occurred heterozygously or homozygously in 17 of 150 families (11.3%), all with autosomal recessive RP. Symptom onset in EYS C2139Y-related RP ranged from 6 to 45 years, with visual acuity (VA) ranging from 20/20 at 21 years to no light perception by 48 years. C2139Y-related RP had typical findings, including sectoral RP in cases with EYS E2703X in trans. The median age at presentation was 45 and visual fields declined to less than 20° (Goldmann V4e isopter) by age 65. Inter-eye correlation for VA, fields, and ellipsoid band width was high (r-squared 0.77 to 0.95). Carrier prevalence was 0.66% (allele frequency of 0.33%) in Singaporean Chinese and 0.34% in East Asians, suggesting a global disease burden exceeding ten thousand individuals.

Conclusions:
The EYS C2139Y variant is common in Singaporean RP patients and other ethnic Chinese populations. Targeted molecular therapy for this single variant could potentially treat a significant proportion of RP cases worldwide.
Evaluation of Schlemm Canal Parameters Using Swept-Source Optical Coherence Tomography in Eyes That Underwent Keratoplasty
Authors: Bolac Ruveyde , Ozcelik-Kose Alev , Imamoglu Serhat , Yildiz Elvin , Ozturk Yucel , Mangan Mehmet Serhat 
Published: July 2023

Objectives:
In this study, we aimed to evaluate Schlemm canal parameters using anterior segment swept-source optical coherence tomography in eyes that underwent keratoplasty and compare them with keratoconus and healthy control groups.

Methods:
The study included 32 patients who underwent penetrating keratoplasty or deep anterior lamellar keratoplasty once due to keratoconus and age-matched and sex-matched 20 keratoconus patients and 30 healthy controls. In all the patients, a single horizontal image centered on the central cornea was obtained from the nasal and temporal quadrants with low-intensity scanning to visualize Schlemm canal.

Results:
There was no statistically significant difference between the groups for age and gender (P˃0.05). In the keratoplasty group, the area and diameter of Schlemm canal were 2.266±1.141μm2 and 160.77±65.08 μm, respectively, in the nasal quadrant and 2.623±1.277 μm2 and 158.81±68.05 μm, respectively in the temporal quadrant, which were statistically significantly lower compared with other groups (P<0.001 for all). There was no significant difference between the penetrating and deep anterior lamellar keratoplasty subgroups for Schlemm canal parameters.

Conclusion:
This is the first study to report anterior segment optical coherence tomography after surgery shows SC parameters that are, on average, less than age-matched and keratoconus controls.
Effect of Scleral Contact Lens Size and Duration of Wear on Intraocular Pressure Effect of Scleral Lenses on Intraocular Pressure
Authors: Litvin Taras V , Tse Vivien , Chung Lisa , Zhou Yixiu , Tan Bo , Han Ying , Lin Meng C 
Published: July 2023

Objective:
To evaluate the effects of scleral lens size and the duration of wear on intraocular pressure (IOP) during lens wear.

Methods:
Healthy adults were recruited for this prospective and randomized study. Intraocular pressure measurements were performed using a pneumotonometer. A block randomization was used to assign the order of scleral lens diameter of either 15.6 mm or 18.0 mm for 5-hr bilateral wear over a course of two visits. Scleral IOP (sIOP) was measured during the predetermined intervals, 1.25 hr apart, during the 5-hr scleral lens wear. Corneal IOP (cIOP) was measured before and after the scleral lens wear. The primary outcome measure was the mean change in sIOP from prelens insertion baseline.

Results:
Corneal IOP unchanged after scleral lens removal compared with the baseline measurements (P=0.878). Smaller and larger lenses introduced significantly higher sIOP at 2.5 hr after lens insertion with the mean (95% CI) increase of 1.16 (0.54, 1.78) mm Hg and 1.37 (0.76, 1.99) mm Hg, respectively. There was no difference in IOP change between the smaller and larger diameter lenses (P=0.590).

Conclusions:
Well-fitted scleral lenses do not result in clinically significant changes in intraocular pressure during 5-hr lens wear in young and healthy individuals.
Massage therapy can effectively relieve cancer pain: A meta-analysis
Authors: Zhang Yueyue , Wang Shaotong , Ma Xiaomin , Yuan Yang , Cheng Hui , Lin Lu , Tian Li 
Published: July 2023

Background:
To critically evaluate the effects of massage therapy on cancer pain.

Methods:
Nine Chinese and English databases (PubMed, Cochrane Library, Embase, SCOPUS, Web of Science core, China Biomedical Literature Database, China National Knowledge Infrastructure, Wanfang, and VIP) were systematically searched from the inception of databases to November 2022 for randomized controlled trials. According to Cochrane Collaboration, 2 reviewers independently assessed the risk of bias and extracted data from the included studies. All analyses were performed with Review Manager 5.4.

Results:
Thirteen randomized controlled trials were included in the meta-analysis, containing 1000 patients (498 in the massage therapy group and 502 in the control group). Massage therapy could significantly relieve cancer pain in patients (standardized mean difference = −1.16, 95% confidence interval [−1.39, −0.93], P < .00001), especially those in the perioperative period and those with hematological malignancies. Foot reflexology and hand acupressure had a moderate effect on cancer pain relief, with hand acupressure being more effective. Massage duration of 10 to 30 minutes and a program length of ≥1 week had a better effect and could significantly relieve pain. The occurrence of adverse events was reported in 4 of the 13 studies, all of which were no adverse events.

Conclusions:
Massage therapy can be used as a complementary alternative therapy to relieve cancer pain in patients with hematological malignancies, breast cancer, and cancers of the digestive system. It is suggested that chemotherapy patients use foot reflexology, and perioperative period patients use hand acupressure. A massage duration of 10 to 30 minutes and a program length of ≥1 week is recommended to achieve better effects.
Progressive pseudorheumatoid dysplasia involving a novel WISP3 mutation and sacroiliac and hip arthritis: A case report and literature review
Authors: Wang Weitao , Xiao Guangzhi , Han Qing , Ding Jin , Xie Ronghua , Jia Junfeng , Leng Nan , Zheng Zhaohui 
Published: July 2023

Introduction:
Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal recessive genetic disease caused by mutations in the Wnt1-inducible signaling pathway protein 3 gene. PPRD is considered a noninflammatory disease, and involvement of the sacroiliac joint and hip arthritis have not been reported previously.

Patient concerns:
We report a case of PPRD in an 11-year-old boy, who presented with bilateral pain and swelling in the knees, elbows, and ankles, and bilateral pain without swelling in the shoulders, wrists, knuckles, and proximal and distal interphalangeal joints for the past 5 years. He had been misdiagnosed with juvenile idiopathic arthritis for more than 6 years.

Diagnosis:
The correct PPRD diagnosis was made using whole-exome sequencing for Wnt1-inducible signaling pathway protein 3 gene mutations (c.589 + 2T>C and c.721T>G; both mutations have rarely been reported) and magnetic resonance imaging examination; moreover, the latter showed inflammation of the sacroiliac joint and hip joint.

Intervention:
The patient was administered supplemental calcium, active vitamin D, and glucosamine sulfate.

Outcome:
The patient experienced alleviation of joint pain following treatment initiation; however, joint motion improvement was not obvious. Above all, the long-term use of biologic or targeted synthetic disease-modifying antirheumatic drugs in the future was avoided.

Conclusion:
The findings of the inflammatory aspects in PPRD will enrich our understanding of this rheumatological disease.
Quality of life in adult patients using dialyzable leukocyte extract for allergic rhinitis
Authors: Homberg Toni Angela , Lara Ivan , Andaluz Consuelo , Cervantes-Trujano Edgar , Hernández-Martínez Pedro Martín , Pérez-Tapia Sonia Mayra , Jiménez-Martínez María Carmen 
Published: July 2023

Allergic rhinitis (AR) has considerable impact on the general health of individuals. Therefore, treatment trials should include an evaluation of quality of life. We aimed to determine changes in the quality of life of moderate/severe AR patients treated with standard treatment in addition to dialyzable leukocyte extract (DLE), a peptide-based immunomodulator. In a prospective, non-controlled trial, DLE was added to the standard treatment regimen for patients with moderate/severe AR. DLE was administered orally at 2 mg per day for 5 days, followed by 4 mg per week for 5 weeks, and then 2 mg per week for 5 weeks. The primary endpoints were overall improved Standardized Rhinoconjunctivitis Quality of Life Questionnaire (RQLQ) scores, domain scores, and individual item scores of 0.5 points or higher. Statistical significance was defined as P < .05. Thirty patients (50% female) aged 14 to 60 years old (33.4 ± 11.9) were enrolled in this study. The mean overall basal quality of life score was 3.41 ± 1.22. After 11 weeks, the mean RQLQ score was 1.74 ± 1.09 (P < .0001; 95% confidence interval [CI], 1.05-2.33), and all the domain scores improved (daily activities P < .001, 95% CI 0.91–2.15, sleep P < .001, 95% CI 0.9–2.26, non-hay fever symptoms P = .001, 95% CI 0.51–1.82, practical problems P < .001, 95% CI 1.55–2.85, nasal symptoms P < .001, 95% CI 1.36–2.67, ocular symptoms P < .001, 95% CI 1.05–2.17, emotional P < .001, 95% CI 1.23–2.55). Each of the 28 individual item scores on the RQLQ showed clinical (minimal important difference [MID] ≥ 0.5) and statistical (P < .05) improvements. DLE might be a beneficial adjuvant treatment for AR. Our results provide preliminary data for future research.
Clinical trials registration ID: NCT02506998
Marginal resection as a potential curative treatment option of infantile fibrosarcoma with good response after chemotherapy: A case report of an ETV6-NTRK3 positive infantile fibrosacroma of the distal tibia
Authors: Weber Markus , von Kunow Frederik , Hillmann Axel 
Published: July 2023

Rationale:
The infantile fibrosarcoma (IFS) is a non-rhabdomyosarcoma soft tissue sarcoma with locally aggressive properties. State of the art therapy consists of neoadjuvant chemotherapy followed by wide resection according to the criteria of the musculoskeletal tumor society.

Diagnoses:
An ETV6-NTRK3 positive IFS of the distal tibia in a 21-months old child showed good response to chemotherapy.

Interventions:
Due to refusal of amputation marginal resection completing the margins with a high speed drill and filling the space with bone cement was performed.

Outcomes:
At latest follow-up 10 years after surgery, no recurrence was observed.

Lessons:
An individual therapy for surgical treatment of IIFS is recommended. This comprises marginal resection in instead of the golden standard “wide resection” in selected cases.
Intervention for burnout and irrational beliefs in parents of couples seeking a divorce: A critical reflection of Igbo-African marital discord
Authors: Omeje Grace Ngozi , Ede Moses Onyemaechi , Amadi Kingsley , Ogbueghu Sylvester N. , Chinweuba Ngozi H. , Obeagu Emmanuel Ifeanyi , Eze Emmanuel , Areji Anthony Chukwudi , Agbo Christian Onuorah , Ekwueme Francis O. 
Published: July 2023

Background:
Looking at the sociocultural dimension of marriage in the sub-region of Nigeria like Igbo, parents allow their sons and daughters to marry so that they can have homes. The expectation is for them to have permanent homes. If there is anything contrary to that such as divorce, parents usually frown at it. To some extent, the psychological effects of it may be deeply rooted in parents who hear that their children are seeking a divorce. Given this reason, this study investigated the effect of rational emotive family health therapy (REFHT) on burnout and irrational beliefs in parents of couples seeking a divorce.

Methods:
This is a pretest-posttest randomized control group research. Two instruments were used to measure 73 participants who were assigned to treatment and control arms. the intervention group received 12 sessions of counseling that aimed to decrease the level of burnout and irrational beliefs. At the end of the sessions and assessments, the data were analyzed using repeated measures, cross-tabulation, and univariate statistics.

Results:
the finding indicated that REFHT was highly effective in decreasing the high parental burnout orchestrated by irrational belief. Comparing the mean scores of the participants exposed to the intervention and those in the control group after time 1 and 2 assessments, the mean reduction of burnout and irrational beliefs further showed a positive treatment outcome. There was no significant influence of gender, time, and group.

Conclusion:
This study suggests that REFHT is significant in improving the psycho-emotional wellness of parents of couples seeking a divorce. Thus, additional research is required to validate the impact of REFHT in decreasing burnout in other populations.
The effect of progressive muscle relaxation technique and myofascial release technique on premenstrual symptoms, blood circulation, and quality of life in women with premenstrual syndrome: A single-blind randomized controlled study
Authors: Demiralp Ovgun Cisel , Tuzun Emine Handan 
Published: July 2023

Background:Premenstrual syndrome (PMS) is a common condition in women of reproductive age. It is characterized by a range of behavioral, physical, and psychological symptoms. The aim of this study is to investigate the effects of progressive relaxation and myofascial release technique (MRT) on premenstrual symptoms, blood flow rate, pain, sleep quality and quality of life, in women with PMS.Method:The study will conduct as a single-blind randomized controlled trial. Study registered at the ClinicalTrial.gov Protocol ID: NCT05836454. The volunteers will be randomized using allocation software to be divided into 3 groups: the progressive muscle relaxation group, the MRT group, and the control group. Assessments will be conducted by another physical therapist who is blinded to the groups. The assessments will include the Premenstrual Syndrome Severity Score, Blood Flow Measurements, Short Form McGill Pain Questionnaire, the Pittsburgh Sleep Quality Index and Short Form-36 Health Survey.Discussion:Since both methods provide relaxation, improve symptoms and quality of life, they have not been compared to each other in the literature. This prompt to us to plan this study.
Abundant infiltration of B cells and plasma cells in brain biopsy of a male patient with severe anti-NMDA receptor encephalitis: A case report
Authors: Wei Linfei , Lu Zhengjuan , Du Zunguo , Wang Yin , Guan Hongzhi 
Published: July 2023

Rationale:
Anti-N-methyl-D-aspartate receptor (NMDAR) is the most common type of autoimmune encephalitis mediated by NMDAR antibodies. The pathological process remains unclear, especially in patients without tumors or infections. Autopsy and biopsy studies have rarely been reported because of the favorable prognosis. Pathological findings generally demonstrate mild-to-moderate inflammation. This case report presents severe anti-NMDAR encephalitis in a 43-year-old man without any identified triggers. The biopsy in this patient showed extensive inflammatory infiltration with evident B cell accumulation, which enriches the pathological study of male anti-NMDAR encephalitis patients without comorbidities.

Patient concerns:
A 43-year-old previously healthy man presented with new-onset seizures with recurrent jerks. The initial autoimmune antibody test with serum and cerebrospinal fluid yielded negative results. After ineffective treatment for viral encephalitis, based on the imaging results indicating the possibility of diffuse glioma, the patient underwent a brain biopsy in the right frontal lobe to rule out malignancy.

Diagnosis:
The immunohistochemical study showed extensive inflammatory cell infiltration, consistent with the pathological changes in encephalitis. Cerebrospinal fluid and serum samples were then retested and tested positive for IgG antibodies against NMDAR. Therefore, the patient was diagnosed with anti-NMDAR encephalitis.

Interventions:
The patient was administered intravenous immunoglobulin (0.4 g/kg/d for 5 days), intravenous methylprednisolone (1 g/d for 5 days, 500 mg/d for 5 days, subsequently reduced to oral administration), and intravenous cyclophosphamide cycles.

Outcomes:
The patient developed refractory epilepsy 6 weeks later and required mechanical ventilation. Despite brief clinical improvement after extensive immunotherapy, the patient died from bradycardia and circulation.

Lessons:
Anti-NMDAR encephalitis cannot be ruled out even if the initial autoantibody test result is negative. For progressive encephalitis of unknown etiology, it is necessary to recheck cerebrospinal fluid for anti-NMDAR antibodies.
An effective salivation-facilitating method for COVID-19 testing: An experimental study
Authors: Higashijima Misako , Shiozu Hiroyasu , Sakai Tomoya , Matsuo Moemi 
Published: July 2023

Background:
Simple tools, such as antigen test kits, are readily available for determining coronavirus disease 2019 infection at hospitals and homes. However, it is challenging for elderly people who are prone to dry mouth and other diseases. The main objective of this study was to investigate whether the presence or consumption of a plum pickle can facilitate salivation during coronavirus disease 2019 testing.

Method:
Twenty healthy adult women participated in the study. The participants were allocated to 2 groups: presentation and non-presentation (n = 10; with and without presentation of a plum pickle, respectively), and eating and non-eating (n = 10; with and without consumption of plum pickle, respectively). We recorded the number of saliva swallows in 1 minute under each condition, using a swallowing test device, which attached film sensors to the hyoid bone and thyroid cartilage.

Results:
There was a significant difference in the number of swallows between the non-presentation and presentation groups (P < .01, r = 0.89, Z = −2.82) as well as between the non-eating and eating groups (P < .01, r = 0.85, Z = −2.68).

Conclusions:
The strength of 3 factors, namely: direct stimulation with citric acid, saliva buffer capacity, and motor learning, may have affected the results. Our study suggests that saliva collection using the plum pickle is an effective complementary method for facilitating salivation. This technique may be useful in avoiding the risk associated with citric acid intake and for efficient specimen collection during coronavirus disease 2019 testing. In the future, we need to verify this method in elderly participants in a clinical setting.
Updates in food allergen immunotherapy
Authors: Szafron Vibha , Rana Ruchit , Anvari Sara 
Published: July 2023

Purpose of review
Food allergies are on the rise. Though allergen avoidance and management of acute reactions have been the backbone of therapy, complete avoidance and timely acute care is often not feasible. Food allergen immunotherapy (FAIT) is a novel and evolving treatment option intended to induce desensitization and potential sustained unresponsiveness (SU) to food allergens. This review addresses the methods, mechanisms, efficacy, and adverse effects of oral immunotherapy (OIT), sublingual immunotherapy (SLIT), and epicutaneous immunotherapy (EPIT) for food allergens in the published literature.

Recent findings
Single FAIT has been most extensively studied in peanut, milk, and hen's egg allergic patients and has been successful in achieving desensitization in treated individuals through various modalities. Long-term data regarding SU is limited; however, current data suggests subsets of patients may be more likely to achieve SU compared to others. Other studies are actively assessing multifood AIT and novel FAIT protocols with adjunctive therapies.

Summary
Food allergy constitutes a prevalent problem with far-reaching consequences. The emergence of FAIT may mitigate the burden of food allergy. Current evidence is promising for specific allergens and pediatric patient populations. Future studies are needed to further assess efficacy between different modalities of immunotherapy for food allergens across an age continuum.
Managing Older Adults' Chronic Pain
Authors: Arnstein Paul , Shade Marcia , Herr Keela A. , Young Heather M. , Fishman Scott M. 
Published: July 2023

This article is part of a series, Supporting Family Caregivers: No Longer Home Alone, published in collaboration with the AARP Public Policy Institute. Results of focus groups, conducted as part of the AARP Public Policy Institute's No Longer Home Alone video project, supported evidence that family caregivers aren't given the information they need to manage the complex care regimens of family members. This series of articles and accompanying videos aims to help nurses provide caregivers with the tools they need to manage their family member's health care at home.
This new group of articles provides practical information nurses can share with family caregivers of persons living with pain. To use this series, nurses should read the articles first, so they understand how best to help family caregivers. Then they can refer caregivers to the informational tear sheet—Information for Family Caregivers—and instructional videos, encouraging them to ask questions. For additional information, see Resources for Nurses. Cite this article as: Arnstein, P., et al. Managing Older Adults' Chronic Pain: Lower-Risk Interventions. Am J Nurs 2023; 123 (2): 46-52.