Results 61 to 70 of about 12,609 (254)

Which Patients With Dysfunctional Voiding Respond Well to Sacral Neuromodulation? ICI‐RS 2025

Neurourology and Urodynamics, EarlyView.
ABSTRACT Aims Dysfunctional voiding (DV) is characterised by fluctuating or intermittent urinary flow during voiding in neurologically normal individuals. Given the different definitions used and heterogeneous pathophysiologies, outcomes following sacral neuromodulation/sacral nerve stimulation (SNM/SNS) are variably reported.
Jalesh N. Panicker, Chris Harding, Hashim Hashim, Claire Hentzen, Nikita Bhatt, Arjun Nambiar, Brigitte Schurch, Mathijs de Rijk, Stefania Musco   +8 more
wiley   +1 more source

A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity in Skeletal Muscle Voltage-gated Sodium Channels

Scientific Reports, 2017
Skeletal muscle channelopathies, many of which are inherited as autosomal dominant mutations, include myotonia and periodic paralysis. Myotonia is defined by a delayed relaxation after muscular contraction, whereas periodic paralysis is defined by ...
Mohammad-Reza Ghovanloo, Mena Abdelsayed, C. Peters, P. Ruben   +3 more
semanticscholar   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective? [PDF]

PLoS ONE, 2013
Mutations in the cytoplasmic tail (CT) of voltage gated sodium channels cause a spectrum of inherited diseases of cellular excitability, yet to date only one mutation in the CT of the human skeletal muscle voltage gated sodium channel (hNaV1.4F1705I) has
Subrata Biswas, Deborah A DiSilvestre, Peihong Dong, Gordon F Tomaselli   +3 more
doaj   +1 more source

Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1

Annals of Clinical and Translational Neurology, 2017
In myotonic dystrophy type 1, several studies have suggested causal relationships between CTG repeat length and the severity of symptoms, such as weakness or myotonia. We aimed to explore these relationships in a large population of 144 DM1 patients. All
J. Hogrel, G. Ollivier, I. Ledoux, L. Hébert, B. Eymard, J. Puymirat, G. Bassez   +6 more
semanticscholar   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source

Plant organelle C‐to‐U RNA editing factors can operate successfully in yeast (Saccharomyces cerevisiae) as an easily amenable eukaryotic system for their functional analysis

The FEBS Journal, EarlyView.
Plant‐type pentatricopeptide repeat proteins capable of C‐to‐U RNA editing perform faithfully when expressed in a new heterologous system, the yeast Saccharomyces cerevisiae. They were tested with constitutive and inducible expression and with a set of different solubility tags. PPR56, PPR65, and PPR78 from P.
Shyam Ramanathan, Annika Hanraths, Jingchan Xie, Mareike Schallenberg‐Rüdinger, Volker Knoop   +4 more
wiley   +1 more source

Super‐Response to Guselkumab Treatment in Patients With Moderate‐to‐Severe Psoriasis: Real‐World Data With Up to Five Years of Follow‐Up in The Czech Republic

International Journal of Dermatology, EarlyView.
Super‐response to Guselkumab. ABSTRACT Background Guselkumab, a selective interleukin (IL)‐23 inhibitor, is approved for the treatment of moderate‐to‐severe plaque psoriasis. While randomized clinical trials have introduced the concept of “super‐responders” (SRe)—patients achieving complete skin clearance (Psoriasis Area and Severity Index [PASI] 100 ...
Martina Kojanova, Daniela Pejrilova, Jorga Fialova, Petra Cetkovska, Spyridon Gkalpakiotis, Alena Machovcova, Petr Arenberger, Jiri Stork, Tomas Dolezal, Martin Tichy, the BIOREP study group, Zdenek Antal, Monika Balaz, Jirina Bartonova, Gabriela Behrami, Linda Blahova, Petr Bohac, Martin Cetkovsky, Dominika Diamantova, Magdalena Dobiasova, Olga Filipovska, Jana Foldesova, Martina Grycova, Eduard Hrnciř, Jiri Horazdovsky, Katerina Hrazdirova, Monika Hudymacova, Marie Jandova, Hana Janatova, Lucie Jaresova, Ludmila Kajtmanova, Frantisek Keznikl, Peter Kicko, Zuzana Kondasova, Sarka Kozojedova, Jiri Korda, Jana Kreisslova, Anezka Kreisslova, Silvie Krchova, Lenka Kulmanova, Natalie Kunesova, Zdenka Kysilka, Iva Lomicova, Romana Machackova, Barbora Machackova, Lukas Mericko, Miroslav Necas, Helena Nemcova, Radka Neumannova, Michaela Novakova, Jitka Osmerova, Veronika Pallova, Veronika Patavova, Lucie Petrů, Marie Policarova, Tomas Pospisil, Simona Risianova, Filip Rob, Marcela Rozkosova, Libuse Sazmova, Jaroslav Sevcik, Iva Schmidtmayerova, Martin Sicha, Kristyna Sokolova, Eliska Stankova, Jan Sternbersky, Ivana Strouhalova, David Stuchlik, Alena Stumpfova, Katerina Svarcova, Katerina Tepla, Hana Tomkova, Jana Tresnak Hercogova, Simona Vachatova, Yvetta Vantuchova, Ivana Vejrova, Iva Zampachova   +76 more
wiley   +1 more source

Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels. [PDF]

PLoS ONE, 2013
Myotonia congenita is a hereditary muscle disorder caused by mutations in the human voltage-gated chloride (Cl(-)) channel CLC-1. Myotonia congenita can be inherited in an autosomal recessive (Becker type) or dominant (Thomsen type) fashion.
Ting-Ting Lee, Xiao-Dong Zhang, Chao-Chin Chuang, Jing-Jer Chen, Yi-An Chen, Shu-Ching Chen, Tsung-Yu Chen, Chih-Yung Tang   +7 more
doaj   +1 more source

Myotonia congenita-associated mutations in chloride channel-1 affect zebrafish body wave swimming kinematics. [PDF]

PLoS ONE, 2014
Myotonia congenita is a human muscle disorder caused by mutations in CLCN1, which encodes human chloride channel 1 (CLCN1). Zebrafish is becoming an increasingly useful model for human diseases, including muscle disorders.
Wei Cheng, Jing Tian, Jean-Marc Burgunder, Walter Hunziker, How-Lung Eng   +4 more
doaj   +1 more source