keyword
https://read.qxmd.com/read/38534779/autosomal-recessive-rod-cone-dystrophy-with-mild-extra-ocular-manifestations-due-to-a-splice-affecting-variant-in-bbs9
#21
Iris Deitch, Sofia Itskov, Daan Panneman, Aasem Abu Shtaya, Tal Saban, Yael Goldberg, Miriam Ehrenberg, Frans P M Cremers, Susanne Roosing, Tamar Ben-Yosef
Bardet-Biedl syndrome (BBS), one of the most common forms of syndromic inherited retinal diseases (IRDs), is characterized by the combination of retinal degeneration with additional extra-ocular manifestations, including obesity, intellectual disability, kidney disease, polydactyly and other skeletal abnormalities. We observed an Israeli patient with autosomal recessive apparently non-syndromic rod-cone dystrophy (RCD). Extra-ocular findings were limited to epilepsy and dental problems. Genetic analysis with a single molecule molecular inversion probes-based panel that targets the exons and splice sites of 113 genes associated with retinitis pigmentosa and Leber congenital amaurosis revealed a homozygous rare missense variant in the BBS9 gene (c...
March 18, 2024: Current Issues in Molecular Biology
https://read.qxmd.com/read/38534545/applications-of-imaging-technologies-in-fuchs-endothelial-corneal-dystrophy-a-narrative-literature-review
#22
REVIEW
Sang Beom Han, Yu-Chi Liu, Chang Liu, Jodhbir S Mehta
Fuchs endothelial corneal dystrophy (FECD) is a complex genetic disorder characterized by the slow and progressive degeneration of corneal endothelial cells. Thus, it may result in corneal endothelial decompensation and irreversible corneal edema. Moreover, FECD is associated with alterations in all corneal layers, such as thickening of the Descemet membrane, stromal scarring, subepithelial fibrosis, and the formation of epithelial bullae. Hence, anterior segment imaging devices that enable precise measurement of functional and anatomical changes in the cornea are essential for the management of FECD...
March 11, 2024: Bioengineering
https://read.qxmd.com/read/38534403/absence-of-the-klotho-function-causes-cornea-degeneration-with-specific-features-resembling-fuchs-endothelial-corneal-dystrophy-and-bullous-keratopathy
#23
JOURNAL ARTICLE
Chun-Yen Wu, Da-Fong Song, Zhi-Jia Chen, Chao-Sheng Hu, David Pei-Cheng Lin, Han-Hsin Chang
The Klotho loss-of-function mutation is known to cause accelerated senescence in many organs, but its effects on the cornea have not been published. The present study aims to investigate the effects of the Klotho null mutation on cornea degeneration and to characterize the pathological features. Mouse corneas of Klotho homozygous, heterozygous, and wild-type mice at 8 weeks of age for both genders were subject to pathological and immunohistological examinations. The results show an irregular topography on the corneal surface with a Klotho null mutation...
February 20, 2024: Biology
https://read.qxmd.com/read/38533726/conformational-fingerprinting-with-raman-spectroscopy-reveals-protein-structure-as-a-translational-biomarker-of-muscle-pathology
#24
JOURNAL ARTICLE
James J P Alix, Maria Plesia, Alexander P Dudgeon, Catherine A Kendall, Channa Hewamadduma, Marios Hadjivassiliou, Gráinne S Gorman, Robert W Taylor, Christopher J McDermott, Pamela J Shaw, Richard J Mead, John C Day
Neuromuscular disorders are a group of conditions that can result in weakness of skeletal muscles. Examples include fatal diseases such as amyotrophic lateral sclerosis and conditions associated with high morbidity such as myopathies (muscle diseases). Many of these disorders are known to have abnormal protein folding and protein aggregates. Thus, easy to apply methods for the detection of such changes may prove useful diagnostic biomarkers. Raman spectroscopy has shown early promise in the detection of muscle pathology in neuromuscular disorders and is well suited to characterising the conformational profiles relating to protein secondary structure...
March 27, 2024: Analyst
https://read.qxmd.com/read/38533679/the-utility-of-electrodiagnostic-testing-in-unprovoked-rhabdomyolysis-in-the-era-of-next-generation-sequencing
#25
JOURNAL ARTICLE
Michael P Skolka, Margherita Milone, William J Litchy, Ruple S Laughlin, Devon I Rubin, Teerin Liewluck
INTRODUCTION/AIMS: Rhabdomyolysis is an etiologically heterogeneous, acute necrosis of myofibers characterized by transient marked creatine kinase (CK) elevation associated with myalgia, muscle edema, and/or weakness. The study aimed to determine the role of electrodiagnostic (EDX) testing relative to genetic testing and muscle biopsy in patients with unprovoked rhabdomyolysis in identifying an underlying myopathy. METHODS: EDX database was reviewed to identify unprovoked rhabdomyolysis patients who underwent EDX testing between January 2012 and January 2022...
March 27, 2024: Muscle & Nerve
https://read.qxmd.com/read/38533084/forward-genetic-screen-using-a-gene-breaking-trap-approach-identifies-a-novel-role-of-grin2bb-associated-rna-transcript-grin2bbart-in-zebrafish-heart-function
#26
JOURNAL ARTICLE
Ramcharan Singh Angom, Adita Joshi, Ashok Patowary, Ambily Sivadas, Soundhar Ramasamy, Shamsudheen K V, Kriti Kaushik, Ankit Sabharwal, Mukesh Kumar Lalwani, Subburaj K, Naresh Singh, Vinod Scaria, Sridhar Sivasubbu
LncRNA-based control affects cardiac pathophysiologies like myocardial infarction, coronary artery disease, hypertrophy, and myotonic muscular dystrophy. This study used a gene-break transposon (GBT) to screen zebrafish ( Danio rerio ) for insertional mutagenesis. We identified three insertional mutants where the GBT captured a cardiac gene. One of the adult viable GBT mutants had bradycardia (heart arrhythmia) and enlarged cardiac chambers or hypertrophy; we named it "bigheart." Bigheart mutant insertion maps to grin2bb or N-methyl D-aspartate receptor (NMDAR2B) gene intron 2 in reverse orientation...
2024: Frontiers in Cell and Developmental Biology
https://read.qxmd.com/read/38532334/epithelial-ingrowth-in-descemet-membrane-endothelial-keratoplasty-associated-with-vitreous-loss
#27
JOURNAL ARTICLE
Anny M S Cheng, Anup Kubal, Shailesh K Gupta, Anil S Vedula, David T Y Yang, Aarup A Kubal
BACKGROUND: Epithelial ingrowth is a rare but potentially sight-threatening complication caused by the invasion of corneal or conjunctival epithelial cells into the eye during ocular surgeries. DMEK is emerging as a widely used surgery for endothelial keratoplasty with its improved safety profile. We describe a case of epithelial ingrowth in the graft-host interface after uneventful DMEK associated with vitreous prolapse in the anterior chamber. CASE PRESENTATION: An 81-year-old female with Fuchs endothelial dystrophy underwent DMEK for corneal decompensation following cataract surgery...
March 26, 2024: BMC Ophthalmology
https://read.qxmd.com/read/38530354/atrogin-1-promotes-muscle-homeostasis-by-regulating-levels-of-endoplasmic-reticulum-chaperone-bip
#28
JOURNAL ARTICLE
Avnika A Ruparelia, Margo Montandon, Jo Merriner, Cheng Huang, Siew Fen Lisa Wong, Carmen Sonntag, Justin P Hardee, Gordon S Lynch, Lee B Miles, Ashley Siegel, Thomas E Hall, Ralf B Schittenhelm, Peter D Currie
Skeletal muscle wasting results from numerous pathological conditions impacting both the musculoskeletal and nervous systems. A unifying feature of these pathologies is the upregulation of members of the E3 ubiquitin ligase family, resulting in increased proteolytic degradation of target proteins. Despite the critical role E3 ubiquitin ligases in regulating muscle mass, the specific proteins they target for degradation and the mechanisms by which they regulate skeletal muscle homeostasis remain ill-defined...
March 26, 2024: JCI Insight
https://read.qxmd.com/read/38528525/the-mouse-retinal-pigment-epithelium-mounts-an-innate-immune-defense-response-following-retinal-detachment
#29
JOURNAL ARTICLE
Steven F Abcouwer, Bruna Miglioranza Scavuzzi, Phillip E Kish, Dejuan Kong, Sumathi Shanmugam, Xuan An Le, Jingyu Yao, Heather Hager, David N Zacks
The retinal pigment epithelium (RPE) maintains photoreceptor viability and function, completes the visual cycle, and forms the outer blood-retinal barrier (oBRB). Loss of RPE function gives rise to several monogenic retinal dystrophies and contributes to age-related macular degeneration. Retinal detachment (RD) causes separation of the neurosensory retina from the underlying RPE, disrupting the functional and metabolic relationships between these layers. Although the retinal response to RD is highly studied, little is known about how the RPE responds to loss of this interaction...
March 25, 2024: Journal of Neuroinflammation
https://read.qxmd.com/read/38526366/-sudden-cardiac-death-in-duchenne-muscular-dystrophy
#30
JOURNAL ARTICLE
Marcello Marcì, Grazia Crescimanno, Paola Vaccaro
No abstract text is available yet for this article.
April 2024: Giornale Italiano di Cardiologia
https://read.qxmd.com/read/38525359/age-associated-sleep-spindle-characteristics-in-duchenne-muscular-dystrophy
#31
JOURNAL ARTICLE
Katharine C Simon, Chelsea Cadle, Neal Nakra, Marni C Nagel, Paola Malerba
Brain oscillations of non-rapid eye movement sleep, including slow oscillations (SO, 0.5-1.5 Hz) and spindles (10-16 Hz), mirror underlying brain maturation across development and are associated with cognition. Hence, age-associated emergence and changes in the electrophysiological properties of these rhythms can lend insight into cortical development, specifically in comparisons between pediatric populations and typically developing peers. We previously evaluated age-associated changes in SOs in male patients with Duchenne muscular dystrophy (DMD), finding a significant age-related decline between 4 and 18 years...
2024: Sleep advances: a journal of the Sleep Research Society
https://read.qxmd.com/read/38524621/novel-homozygous-mutations-in-aire-leading-to-aps-1-and-potential-mechanisms-based-on-bioinformatics-analysis
#32
JOURNAL ARTICLE
Huiping Wu, Yiqi Mo, Shiwen Yu, Xiaojun Ye, Yili Lu, Chaoban Wang, Xiaoou Shan
BACKGROUND: Autoimmune Poly-endocrine Syndrome Type 1 (APS-1), also known as autoimmune poly-endocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a single-gene hereditary disorder usually characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenocortical insufficiency. This syndrome is very rare in China. METHODS: For our reported patient, we employed clinical and laboratory examinations along with genetic identification...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38524090/unilateral-calf-atrophy-a-case-series-of-clinical-and-electrodiagnostic-findings-with-a-review-of-the-literature
#33
Lisa B Shields, Vasudeva G Iyer, Yi Ping Zhang, Christopher B Shields
Unilateral calf atrophy may result from several medical conditions, such as lumbar radiculopathy, asymmetric myopathy/dystrophy, a Baker's (popliteal) cyst leading to tibial nerve compression, and disuse atrophy. We present a case series of four patients with unilateral calf atrophy, including chronic neurogenic atrophy (benign focal amyotrophy, one patient), tibial nerve compression at the popliteal fossa by a Baker's cyst (one patient), and disuse atrophy (two patients). All four patients underwent electrodiagnostic (EDX) studies, and two of them had denervation changes of the gastrocnemius...
February 2024: Curēus
https://read.qxmd.com/read/38522724/iqcb1-nphp5-retinopathy-clinical-and-genetic-characterization-and-natural-history
#34
JOURNAL ARTICLE
Sagnik Sen, Lorenzo Fabozzi, Kaoru Fujinami, Yu Fujinami-Yokokawa, Genevieve A Wright, Andrew Webster, Omar Mahroo, Anthony G Robson, Michalis Georgiou, Michel Michaelides
PURPOSE: To describe the clinical and genetic features, and explore the natural history of retinopathy associated with IQCB1 variants in children and adults with retinopathy. DESIGN: Retrospective cohort study at a single tertiary care referral center. METHODS: The study recruited 19 patients with retinopathy, harboring likely disease-causing variants in IQCB1. Demographic data and clinical presentation, best corrected visual acuity (BCVA), fundus appearance, optical coherence tomography (OCT) and autofluorescence features, electroretinography (ERG) and molecular genetics are reported...
March 22, 2024: American Journal of Ophthalmology
https://read.qxmd.com/read/38521678/the-complementary-use-of-muscle-ultrasound-and-mri-in-fshd-early-versus-later-disease-stage-follow-up
#35
JOURNAL ARTICLE
Sanne C C Vincenten, Nicol C Voermans, Donnie Cameron, Baziel G M van Engelen, Nens van Alfen, Karlien Mul
OBJECTIVES: Muscle MRI and ultrasound provide complementary techniques for characterizing muscle changes and tracking disease progression in facioscapulohumeral muscular dystrophy (FSHD). In this cohort study, we provide longitudinal data that compares both imaging modalities head-to-head. METHODS: FSHD patients were assessed at baseline and after five years. Standardized muscle MRI and ultrasound images of five leg muscles were assessed bilaterally. Fat replacement was quantified using MRI fat-fraction (FF) and ultrasound Heckmatt and echogenicity z-scores (EZ-score)...
March 7, 2024: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://read.qxmd.com/read/38518236/morphometric-aspects-of-remodeling-of-the-arterial-bed-of-the-testicles-in-post-resection-portal-and-pulmonary-hypertensions
#36
JOURNAL ARTICLE
Michailo S Hnatjuk, Serhiy O Konovalenko, Myroslav Yu Kritsak, Tetiana I Gargula, Oleh B Yasinovskyi
OBJECTIVE: Aim: To perform a morphometric analysis of the features of vascular remodeling of the arterial bed of the testicles in post-resection portal and pulmonary hypertension. PATIENTS AND METHODS: Materials and Methods: The testes of 54 white rats were studied, which were divided into groups: 1st included 16 intact animals, 2nd - 20 rats with pulmonary hypertension, 3rd - 18 individuals with post-resection portal hypertension. Postresection pulmonary hypertension was modeled by right-sided pulmonectomy...
2024: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://read.qxmd.com/read/38517799/treatment-approaches-for-altered-facial-expression-a-systematic-review-in-facioscapulohumeral-muscular-dystrophy-and-other-neurological-diseases
#37
JOURNAL ARTICLE
Nathaniël B Rasing, Willianne A van de Geest-Buit, On Ying A Chan, Karlien Mul, Anke Lanser, Baziel G M van Engelen, Corrie E Erasmus, Agneta H Fischer, Koen J A O Ingels, Bart Post, Ietske Siemann, Jan T Groothuis, Nicol C Voermans
BACKGROUND: Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There is no cure and supportive treatments focus on optimizing physical fitness and compensation of functional disabilities. OBJECTIVE: We hypothesize that symptomatic treatment options and psychosocial interventions for other neurological diseases with altered facial expression could be applicable to FSHD...
March 21, 2024: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/38517756/ion-channels-as-biomarkers-of-altered-myogenesis-in-myofiber-precursors-of-duchenne-muscular-dystrophy
#38
JOURNAL ARTICLE
Alessandro Giovanni Cerchiara, Paola Imbrici, Raffaella Quarta, Enrica Cristiano, Brigida Boccanegra, Erika Caputo, Dominic J Wells, Ornella Cappellari, Annamaria De Luca
Myogenesis is essential for skeletal muscle formation, growth, and regeneration and can be altered in Duchenne muscular dystrophy (DMD), an X-linked disorder due to the absence of the cytoskeletal protein dystrophin. Ion channels play a pivotal role in muscle differentiation and interact with the dystrophin complex. To investigate ion channel involvement in myogenesis in dystrophic settings, we performed electrophysiological characterization of two immortalized mouse cell lines, wild-type (WT) H2K-2B4 and the dystrophic (DYS) H2K-SF1, and measured gene expression of differentiation markers and ion channels...
March 22, 2024: Annals of the New York Academy of Sciences
https://read.qxmd.com/read/38517116/quantitative-ultrasonography-reveals-skeletal-muscle-abnormalities-in-carriers-of-dmd-pathogenic-variants
#39
JOURNAL ARTICLE
Bruna Melo Coelho Loureiro, Mariana Rabelo de Brito, Cristina Iwabe, Sergio San Juan Dertkigil, Marcondes C França
INTRODUCTION/AIMS: Carriers of DMD pathogenic variants may become symptomatic and develop muscle-related manifestations. Despite that, few studies have attempted to characterize changes in the muscles of these carriers using imaging tools, particularly muscle ultrasound (MUS). The aim of this study was to compare lower limb MUS findings in carriers of DMD pathogenic variants (cDMD) vs healthy controls. METHODS: Twenty-eight women (15 cDMD and 13 controls) underwent clinical evaluation and MUS...
March 22, 2024: Muscle & Nerve
https://read.qxmd.com/read/38514795/mcu-independent-ca-2-uptake-mediates-mitochondrial-ca-2-overload-and-necrotic-cell-death-in-a-mouse-model-of-duchenne-muscular-dystrophy
#40
JOURNAL ARTICLE
Michael J Bround, Eaman Abay, Jiuzhou Huo, Julian R Havens, Allen J York, Donald M Bers, Jeffery D Molkentin
Mitochondrial Ca2+ overload can mediate mitochondria-dependent cell death, a major contributor to several human diseases. Indeed, Duchenne muscular dystrophy (MD) is driven by dysfunctional Ca2+ influx across the sarcolemma that causes mitochondrial Ca2+ overload, organelle rupture, and muscle necrosis. The mitochondrial Ca2+ uniporter (MCU) complex is the primary characterized mechanism for acute mitochondrial Ca2+ uptake. One strategy for preventing mitochondrial Ca2+ overload is deletion of the Mcu gene, the pore forming subunit of the MCU-complex...
March 21, 2024: Scientific Reports
keyword
keyword
35036
2
3
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.