Results 101 to 110 of about 15,859 (215)

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

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 904-913, May 2026.
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

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report

BMC Neurology, 2019
Background Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle pathology is usually normal or comprises mild myopathic changes in NDMs.
Takanori Hata, Takamura Nagasaka, Kishin Koh, Mai Tsuchiya, Yuta Ichinose, Haitian Nan, Kazumasa Shindo, Yoshihisa Takiyama   +7 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Making Sense of Erotically Oppressive Lifeworlds: Dynamics of Testimonial Smothering and Testimonial Quieting

Journal of Social Philosophy, EarlyView.
Paul Giladi
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, Volume 65, Issue 5, Page 980-990, May 2026.
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

Pediatric feeding and swallowing rehabilitation: An overview [PDF]

, 2017
Children with neurological disabilities frequently have problems with feeding and swallowing. Such problems have a significant impact on the health and well-being of these children and their families.
Arvedson, Arvedson, Arvedson, Arvedson, Calis, Chen, Christiaanse, Cichero, Ciochon, Clark, Cooper-Brown, Craig, Dayan, Dodrill, Erasmus, Galea, Gewolb, Gisel, Gow, Granger, Harding, Harding, Humbert, Jadcherla, Jansen, Jansen, Kent, Kiliaridis, Kleim, Larnert, Lau, Law-Morstatt, Le Reverend, Lefton-Greif, Maas, Mizuno, Noll, Northstone, Ottenbacher, Pinnington, Rangarathnam, Redstone, Robbins, Ruscello, Shadmehr, Sheppard, Sjogreen, Sjogreen, Snider, Steele, Sweazey, Thelen, Thoyre, Tilton, van Bruggen, van den Engel-Hoek, van den Engel-Hoek, van den Engel-Hoek, van den Engel-Hoek, van den Engel-Hoek, van den Engel-Hoek, Wang, Wilson   +62 more
core   +2 more sources

Treatment of sleep central apnea with non-invasive mechanical ventilation with 2 levels of positive pressure (bilevel) in a patient with myotonic dystrophy type 1 [PDF]

, 1906
We are reporting a case of a 29 year-old female with diagnosis of myotonic dystrophy type 1 (Steinert’s disease) with excessive daytime sleepiness, muscle fatigue, snoring, frequent arousals, non-restorative sleep, and witnessed apneas.
Akamine, Ricardo Tera, Grossklauss, Luís Fernando, Moreira, Gustavo Antonio, Pradella-Hallinan, Marcia, Chiéia, Marco Antônio, Mesquita, Denis, Bulle Oliveira, Acary Souza, Tufik, Sergio   +7 more
core   +2 more sources

Myotonic Dystrophy—A Progeroid Disease?

Frontiers in Neurology, 2018
Myotonic dystrophies (DM) are slowly progressing multisystemic disorders caused by repeat expansions in the DMPK or CNBP genes. The multisystemic involvement in DM patients often reflects the appearance of accelerated aging. This is partly due to visible
Peter Meinke, Stefan Hintze, Sarah Limmer, Benedikt Schoser   +3 more
doaj   +1 more source

C9 ORF 72 expansion in a family with bipolar disorder [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/98405/1/bdi12063 ...
Albin, Roger L., Grant, Adrienne E., He, Fang, Jones, Julie M., Kamali, Masoud, Langenecker, Scott A., Lenk, Guy M., Lieberman, Andrew P., McInnis, Melvin G., Meisler, Miriam H., Todd, Peter K.   +10 more
core   +1 more source

Functions of the Muscleblind-like protein family and their role in disease

Cell Communication and Signaling
Conserved proteins are characterized by their functions remaining nearly constant throughout evolutionary history, both vertically through time and horizontally across species.
Hui Zhou, Jiachi Xu, Liusheng Pan
doaj   +1 more source