Results 111 to 120 of about 52,020 (257)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Consanguinity And Pregnancy Outcome Among Rural Pregnant Women of Belgaum District

National Journal of Community Medicine, 2012
Background: Although unions between close biological relatives are preferred in many parts of South India, there still is a large gap of knowledge of this feature of human kinship structure. So, the present study was conducted to know the prevalence and
Chandra S Metgud, Vijaya A Naik, Maheshwar D Mallapur   +2 more
doaj  

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

A Diagnosis Hidden in Plain Sight: A Rare Presentation of Isolated Dysarthria in Wilson's Disease—A Case Report

Clinical Case Reports
A clinical picture of isolated dysarthria is relatively uncommon, and the underlying condition causing it can be easily misdiagnosed. In this case, a 24‐year‐old Indian male presented with complaints of slurring of speech occurring for the past 9 months.
Kruthika Reddy, Maanini Singhvi, Archana B. Netto, B. Thejus, Leroy D. Souza, Deepak B. Shivananda, Samyuktha Vinu Nair, Deepak Rai   +7 more
doaj   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Didacticism and the Male Reader in Samuel Richardson\u27s Pamela [PDF]

, 2013
In lieu of an abstract, below is the first paragraph of the paper. One might say that Samuel Richardson\u27s 18th century novel Pamela is essentially a love story that, like the chick lit of today, appeals mostly to a female audience.
Zahid, Maria
core   +1 more source

Engineering Tertiary Lymphoid Structures: Nanomedicine, Bioengineering, and Biomaterials for Precision Immunotherapy

Advanced NanoBiomed Research, EarlyView.
This review explains how biomaterials and nanoparticles can be used to induce or modulate tertiary lymphoid structures (TLSs), which are ectopic immune hubs that form in nonlymphoid tissues during chronic disease and cancer. By comparing different methods, the article highlights design principles for modeling TLSs or recapitulating specific TLS ...
Shaza Karaman, Mei ElGindi, Jeremy Teo
wiley   +1 more source

The economics of consanguineous marriages [PDF]

The institution of consanguineous marriage-a marriage contracted between close biological relatives-has been a basic building block of many societies in different parts of the world. This paper argues that the practice of consanguinity is closely related
Do, Quy-Toan, Iyer, Sriya, Joshi, Shareen   +2 more
core  

Nonviral Gold Nanoparticle‐Mediated Delivery of CRISPR‐Cas9 Ribonucleoprotein and Long DNA Transgenes Into Primary Blood Cells

Advanced NanoBiomed Research, EarlyView.
CRISPR/Cas9 has revolutionized the field of gene therapy, but delivery remains an outstanding issue. We propose a nonviral gold‐nanoparticle platform for co‐delivery of CRISPR/Cas9 ribonucleoprotein and long 2.1 kilobase dsDNA transgene constructs. This CRISPR‐AuNP is inexpensive to produce and mediate gene editing and DNA delivery in T cells and CD34+
Rachel A. Cunningham, Karthikeya S. V. Gottimukkala, Daniel D. Lane, Katrina Poljakov, Patricia Lipson, Mark R. Enstrom, Alessandro Rizzi, Aude G. Chapuis, Jennifer E. Adair   +8 more
wiley   +1 more source

Application of whole exome sequencing in carrier screening for high-risk families without probands

Frontiers in Genetics
PurposeThis study aimed to screen the genetic etiology for the high-risk families including those with an adverse pregnancy history, a history of consanguineous marriages, or a history of genetic diseases, but lack of proband via whole exome sequencing ...
Qinlin Huang, Zhongjie Wang, Yanling Teng, Wen Zhang, Juan Wen, Huimin Zhu, Desheng Liang, Lingqian Wu, Lingqian Wu, Zhuo Li   +9 more
doaj   +1 more source