keyword
https://read.qxmd.com/read/38669730/partial-loss-of-desmin-expression-due-to-a-leaky-splice-site-variant-in-the-human-des-gene-is-associated-with-neuromuscular-transmission-defects
#1
JOURNAL ARTICLE
Kiran Polavarapu, Daniel O'Neil, Rachel Thompson, Sally Spendiff, Bevinahalli Nandeesh, Seena Vengalil, Akshata Huddar, Dipti Baskar, Gautham Arunachal, Ananthapadmanabha Kotambail, Saloni Bhatia, Seetam Kumar Tumulu, Leslie Matalonga, Ana Töpf, Steven Laurie, Joshua Zeldin, Saraswati Nashi, Gopikrishnan Unnikrishnan, Atchayaram Nalini, Hanns Lochmüller
Recessive desminopathies are rare and often present as severe early-onset myopathy. Here we report a milder phenotype in three unrelated patients from southern India (2 M, 1F) aged 16, 21, and 22 years, who presented with childhood-onset, gradually progressive, fatigable limb-girdle weakness, ptosis, speech and swallowing difficulties, without cardiac involvement. Serum creatine kinase was elevated, and repetitive nerve stimulation showed decrement in all. Clinical improvement was noted with pyridostigmine and salbutamol in two patients...
March 22, 2024: Neuromuscular Disorders: NMD
https://read.qxmd.com/read/38668996/emerging-perspectives-on-the-impact-of-diabetes-mellitus-and-anti-diabetic-drugs-on-premenstrual-syndrome-a-narrative-review
#2
REVIEW
Omnia Azmy Nabeh, Alaa Amr, Aml Medhat Faoosa, Eshraka Esmat, Alaa Osama, Amira Samy Khedr, Basma Amin, Alaa I Saud, Soha Aly Elmorsy
Diabetes mellitus (DM) and premenstrual syndrome (PMS) are global health challenges. Both disorders are often linked to a range of physical and psychological symptoms that significantly impact the quality of life of many women. Yet, the exact relation between DM and PMS is not clear, and the management of both conditions poses a considerable challenge. In this review, we aimed to investigate the interplay between DM, anti-diabetic drugs, and the different theories and symptoms of PMS. Female sex hormones are implicated in the pathophysiology of PMS and can also impair blood glucose control...
April 26, 2024: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://read.qxmd.com/read/38668925/combining-hemodialysis-with-peritoneal-dialysis-improves-cognitive-function-a-three-case-report
#3
JOURNAL ARTICLE
Tomomi Maruki, Takashin Nakayama, Kohkichi Morimoto, Kiyotaka Uchiyama, Naoki Washida, Ryunosuke Mitsuno, Shun Tonomura, Eriko Yoshida Hama, Ei Kusahana, Norifumi Yoshimoto, Akihito Hishikawa, Aika Hagiwara, Tatsuhiko Azegami, Jun Yoshino, Toshiaki Monkawa, Tadashi Yoshida, Shintaro Yamaguchi, Kaori Hayashi
Chronic kidney disease (CKD) is associated with multiple complications, with recent scholarly attention underscoring cognitive impairment as a salient manifestation. Considering societal aging, preserving cognitive function has emerged as an urgent medical concern. Prolonged dialysis, encompassing hemodialysis (HD) and peritoneal dialysis (PD), has been associated with a decline in cognitive function. Here, we present the cases of three patients undergoing PD who exhibited a noticeable improvement in cognitive function upon the initiation of HD...
April 26, 2024: CEN Case Reports
https://read.qxmd.com/read/38668859/low-anterolateral-incision-for-single-port-extraperitoneal-robot-assisted-pyeloplasty-description-of-technique-and-initial-experience
#4
JOURNAL ARTICLE
Roxana Ramos, Jaya S Chavali, Ethan Ferguson, Nicolas Soputro, Albert Geskin, Audrey Rhee, Jihad Kaouk
PURPOSE: This study aims to describe the surgical steps for the single-port low anterolateral extraperitoneal approach to pyeloplasty, report its feasibility, and share the initial outcomes of our experience. METHODS: We analyzed all consecutive patients who underwent single-port low anterolateral extraperitoneal pyeloplasty due to ureteropelvic junction obstruction (UPJO). The surgical steps included a pure single-port approach through a 3.5 cm low anterolateral incision two fingerbreadths above the superior pubic ramus...
April 26, 2024: World Journal of Urology
https://read.qxmd.com/read/38667743/novel-medical-treatments-and-devices-for-the-management-of-heart-failure-with-reduced-ejection-fraction
#5
REVIEW
Michele Alfieri, Filippo Bruscoli, Luca Di Vito, Federico Di Giusto, Giancarla Scalone, Procolo Marchese, Domenico Delfino, Simona Silenzi, Milena Martoni, Federico Guerra, Pierfrancesco Grossi
Heart failure (HF) is a growing issue in developed countries; it is often the result of underlying processes such as ischemia, hypertension, infiltrative diseases or even genetic abnormalities. The great majority of the affected patients present a reduced ejection fraction (≤40%), thereby falling under the name of "heart failure with reduced ejection fraction" (HFrEF). This condition represents a major threat for patients: it significantly affects life quality and carries an enormous burden on the whole healthcare system due to its high management costs...
April 19, 2024: Journal of Cardiovascular Development and Disease
https://read.qxmd.com/read/38667605/debridement-antibiotic-pearls-and-retention-of-the-implant-dapri-in-the-treatment-of-early-periprosthetic-knee-joint-infections-a-literature-review
#6
REVIEW
Giovanni Vicenti, Elisa Pesare, Giulia Colasuonno, Claudio Buono, Federica Albano, Teresa Ladogana, Anna Claudia Passarelli, Giuseppe Solarino
(1) Background: Periprosthetic joint infections (PJIs) are severe and frightening complications in orthopaedic surgery, and they are generally divided into three categories: early infections (those occurring within the first 4-6 weeks), delayed infections (those occurring between 3 and 24 months), and late infections (those occurring more than 2 years after surgery). PJI treatment comprises "debridement, antibiotics, and implant retention" (DAIR), single-stage revision, and double-stage revision. Nowadays, to improve the chances of retaining an infected implant and to improve the traditional DAIR method, a modified surgical technique has been developed, named DAPRI (debridement, antibiotic pearls, and retention of the implant)...
April 16, 2024: Healthcare (Basel, Switzerland)
https://read.qxmd.com/read/38666969/appropriate-duration-of-antimicrobial-treatment-for-prosthetic-joint-infections-a-narrative-review
#7
REVIEW
Jaime Lora-Tamayo, Mikel Mancheño-Losa, María Ángeles Meléndez-Carmona, Pilar Hernández-Jiménez, Natividad Benito, Oscar Murillo
Prosthetic joint infections are considered difficult to treat they needing aggressive surgery and long antimicrobial treatments. However, the exact duration of these therapies has been established empirically. In the last years, several studies have explored the possibility of reducing the length of treatment in this setting, with conflicting results. In this narrative review, we critically appraise the published evidence, considering the different surgical approaches (implant retention [DAIR] and one-step and two-step exchange procedures) separately...
March 23, 2024: Antibiotics
https://read.qxmd.com/read/38666691/clinical-outcomes-of-milled-3d-printed-and-conventional-complete-dentures-in-edentulous-patients-a-systematic-review-and-meta-analysis
#8
REVIEW
Amirali Zandinejad, Franciele Floriani, Wei-Shao Lin, Aron Naimi-Akbar
PURPOSE: This systematic review aims to compare clinical outcomes of digital dentures with conventional dentures. MATERIALS AND METHODS: This study followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and was registered in Prospero. The formulated population, intervention, comparison, outcome (PICO) question was "What is the clinical outcome of digital versus conventional complete dentures (CDs) in edentulous patients?"...
April 26, 2024: Journal of Prosthodontics: Official Journal of the American College of Prosthodontists
https://read.qxmd.com/read/38666457/emerging-from-the-shadows-trends-in-hiv-ambulatory-care-viral-load-testing-and-viral-suppression-in-a-u-s-hiv-cohort-2019-2022-impact-of-covid-19-pandemic
#9
JOURNAL ARTICLE
Ellen M Tedaldi, Qingjiang Hou, Carl Armon, Jonathan Mahnken, Frank Palella, Gina Simoncini, Jack Fuhrer, Cynthia Mayer, Alexander C Ewing, Kalliope Chagaris, Kimberly Carlson, Jun Li, Kate Buchacz
OBJECTIVES: Analyze the acute impact and the longer-term recovery of COVID-19 pandemic effects on clinical encounter types, HIV viral load (VL) testing and suppression (HIV VL<200 copies/mL). DESIGN: Longitudinal cohort study of participants seen during 2019-2022 at eight HIV Outpatient Study (HOPS) sites. METHODS: Generalized linear mixed models (GLMM) estimated monthly rates of all encounters, office and telemedicine visits, and HIV VL tests using 2010-2022 data...
April 26, 2024: Journal of Investigative Medicine: the Official Publication of the American Federation for Clinical Research
https://read.qxmd.com/read/38666137/identification-of-parkinson-s-disease-subtypes-with-distinct-brain-atrophy-progression-and-its-association-with-clinical-progression
#10
JOURNAL ARTICLE
Guoqing Pan, Yuchao Jiang, Wei Zhang, Xuejuan Zhang, Linbo Wang, Wei Cheng
BACKGROUND: Parkinson's disease (PD) patients suffer from progressive gray matter volume (GMV) loss, but whether distinct patterns of atrophy progression exist within PD are still unclear. OBJECTIVE: This study aims to identify PD subtypes with different rates of GMV loss and assess their association with clinical progression. METHODS: This study included 107 PD patients (mean age: 60.06 ± 9.98 years, 70.09% male) with baseline and ≥ 3-year follow-up structural MRI scans...
2024: Psychoradiology
https://read.qxmd.com/read/38665926/electroacupuncture-therapy-for-urinary-retention-in-an-elderly-patient
#11
JOURNAL ARTICLE
Nur Khasanah, Wahyuningsih Djaali, Yoshua Viventius
BACKGROUND: Urinary retention is the inability to urinate voluntarily and difficulty in urinating even when the bladder is full. Acute urinary retention is most common in men aged 60-80. In the past 5 years, 10% of men older than age 70 and almost a third of men in their 80s have experienced acute urinary retention. Risk factors include prostate enlargement, increasing age, African-American race, obesity, diabetes mellitus, high alcohol consumption, and lack of physical activity. Treatment for urinary retention is mainly urethral catheterization, but it can be uncomfortable for a patient in the long term...
April 1, 2024: Medical Acupuncture
https://read.qxmd.com/read/38665293/case-report-iatrogenic-tattoos-caused-by-skin-marking-pen-in-a-postoperative-patient
#12
Hanxing Zhao, Xingru Wu, Yue Yu, Chang Cao
In this report, a female patient suffering from pigment retention caused by a skin marking pen was elucidated. The patient underwent blepharoplasty 6 months ago and presented with blue-black linear marks at the upper eyelid incision 2 weeks after surgery. Under dermoscopy, scattered pigments were observed to accumulate in the epidermis of the upper eyelid. The patient was diagnosed with iatrogenic tattoo by a surgical marking pen. We chose surgical excision of the skin with the pigmentation. Previous studies have established that the risk of bacterial contamination, contact dermatitis, and allergies may increase with the surgical marking pens, while pigment retention has not yet been mentioned yet...
2024: Frontiers in Medicine
https://read.qxmd.com/read/38665040/a-qualitative-descriptive-exploration-of-the-experiences-of-burn-therapists
#13
JOURNAL ARTICLE
Miranda L Yelvington, Rachel E Wood, Tyler Corson, Jiale Hu, Stacey Reynolds
Exposure to patients who have experienced major traumatic events places burn therapists at risk of developing high levels of anxiety and stress, directly impacting their quality of life. Poor professional quality of life has been associated with negative physical and emotional characteristics in healthcare professionals and may subsequently influence patient safety and satisfaction, job retention, and productivity. The purpose of this study was to understand and describe the experiences of occupational and physical therapists who provide acute therapy to people who have sustained burn injuries...
April 26, 2024: Journal of Burn Care & Research: Official Publication of the American Burn Association
https://read.qxmd.com/read/38664653/weight-management-personas-of-breast-cancer-patients-undergoing-chemotherapy-in-china-a-multi-method-study
#14
JOURNAL ARTICLE
Xinyu Li, Nan Zhang, Juan Yang, Zhaohui Geng, Jie Zhou, Jinyu Zhang
BACKGROUND: Mobile health (mHealth) may be an ideal solution for breast cancer (BC) patients in China to access weight management interventions. User retention and engagement are the main challenges faced by mHealth applications. A user persona, which is a user-centered design process, can lead to the development of mHealth that is more acceptable to the needs of target users. This study aimed to investigate the variety of experiences in weight management and the behavioral preferences of BC patients receiving chemotherapy to develop users' personal information and persona development for the design and implementation of mHealth interventions...
April 25, 2024: BMC Medical Informatics and Decision Making
https://read.qxmd.com/read/38664592/post-translational-modifications-in-kidney-diseases-and-associated-cardiovascular-risk
#15
REVIEW
Heidi Noels, Vera Jankowski, Stefan J Schunk, Raymond Vanholder, Sahir Kalim, Joachim Jankowski
Patients with chronic kidney disease (CKD) are at an increased cardiovascular risk compared with the general population, which is driven, at least in part, by mechanisms that are uniquely associated with kidney disease. In CKD, increased levels of oxidative stress and uraemic retention solutes, including urea and advanced glycation end products, enhance non-enzymatic post-translational modification events, such as protein oxidation, glycation, carbamylation and guanidinylation. Alterations in enzymatic post-translational modifications such as glycosylation, ubiquitination, acetylation and methylation are also detected in CKD...
April 25, 2024: Nature Reviews. Nephrology
https://read.qxmd.com/read/38664389/a-report-on-neurogenic-bladder-in-covid-19-vaccine-associated-acute-transverse-myelitis
#16
JOURNAL ARTICLE
Muhamad Faizal Zainudin, Mohd Razali Hasim, Christina Eleanor Martin, Thanalactchumy Chandrabose
INTRODUCTION: Acute transverse myelitis (ATM) is a rare neurological complication of Coronavirus disease (COVID-19) vaccines. Various vaccines have been linked to ATM, such as non-replicating viral vectors, ribonucleic acid, and inactivated vaccines. An ATM case is presented here involving the BNT162b2 vaccine leading to asymmetrical incomplete paraplegia and neurogenic bladder. CASE PRESENTATION: A 66-year-old male developed urinary retention one day after his second dose of the BNT162b2 vaccine, followed by rapidly progressing lower limb weakness...
April 25, 2024: Spinal Cord Series and Cases
https://read.qxmd.com/read/38664256/a-novel-classification-of-posterior-pelvic-exenteration-to-assess-prognosis-in-female-patients-with-locally-advanced-primary-rectal-cancer-a-retrospective-cohort-study-from-china-pelvex-collaborative
#17
JOURNAL ARTICLE
Yuegang Li, Meng Zhuang, Gang Hu, Jinzhu Zhang, Wenlong Qiu, Shiwen Mei, Jianqiang Tang
PURPOSE: Surgical techniques and the prognosis of posterior pelvic exenteration for locally advanced primary rectal cancer in female patients pose challenges that need to be addressed. Therefore, we investigated the short-term and survival outcomes of posterior pelvic exenteration in female patients using a novel Peking classification. METHODS: We retrospectively analysed a prospective database from China PelvEx Collaborative across three tertiary referral centres...
April 26, 2024: International Journal of Colorectal Disease
https://read.qxmd.com/read/38663585/long-term-outcomes-of-augmentation-cystoplasty-in-genitourinary-tuberculosis-in-adults-a-12-year-follow-up-experience-at-a-tertiary-single-center
#18
JOURNAL ARTICLE
Rudra Prasad Ghorai, Siddharth Jain, Brusabhanu Nayak, Prashant Singh, Rishi Nayyar, Rajeev Kumar, Amlesh Seth
OBJECTIVES: To evaluate the long-term effectiveness and consequences of augmentation cystoplasty in adult patients with small capacity bladder due to genitourinary tuberculosis (GUTB). METHODS: After approval of the institutional ethical committee, we retrospectively analyzed the database of adult patients with small capacity bladder due to GUTB treated by augmentation cystoplasty from January 2010 to December 2022 at our center. The patients were followed up at six weeks postoperatively, then every three monthly for 1st year and six monthly in second year, and then annually...
April 23, 2024: Urology
https://read.qxmd.com/read/38662953/examining-trauma-anxiety-and-depression-as-predictors-of-dropout-from-residential-treatment-for-substance-use-disorders
#19
JOURNAL ARTICLE
Alyssa M Medenblik, Alisa R Garner, Evan J Basting, Jacqueline A Sullivan, Mary C Jensen, Ryan C Shorey, Gregory L Stuart
Substance use disorders (SUDs) are highly prevalent and have deleterious effects on one's health and well-being. Inpatient treatment for SUDs reduces patient relapse, which subsequently ameliorates these negative effects on the individual and society. Additionally, those who complete treatment are less likely to relapse compared to those who do not complete treatment. Thus, maintaining patient engagement in treatment and reducing the rates of those leaving against medical advice (AMA) is particularly important...
April 25, 2024: Journal of Clinical Psychology
https://read.qxmd.com/read/38661827/strategies-for-recruiting-older-black-men-into-aging-and-alzheimer-s-research
#20
JOURNAL ARTICLE
Darlingtina K Esiaka, Glenn B Wilson, Mark A Gluck
BACKGROUND: Despite their high risks for Alzheimer's disease, older Black men are minimally represented in Alzheimer's research and clinical trials. The absence of older Black men in Alzheimer's research limits our ability to characterize the changes associated with cognitive impairments in older Black men-a key health disparity concern. METHODS: Drawing on lessons we learned from years of community-based participatory research in Newark, NJ, we highlight recruitment strategies developed alongside community partners to guide our enrollment and retention efforts for Black men...
2024: Progress in Community Health Partnerships: Research, Education, and Action
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