Results 71 to 80 of about 27,467 (232)

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

Decades of Misdiagnosis as Myasthenia Gravis: Late‐Onset POLG‐Related Ophthalmoplegia Unveiled by Whole‐Genome Sequencing

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT A 55‐year‐old male developed POLG‐related ophthalmoplegia in 2015 and was misdiagnosed with seronegative myasthenia gravis for 10 years. Whole‐genome sequencing identified compound heterozygous POLG mutations, highlighting its value in diagnosing refractory neuromuscular disorders.
Tanli Lu, Huadong Lv, Xiaodan Luo, Xiuying Liu   +3 more
wiley   +1 more source

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases

European Journal of Immunology, Volume 56, Issue 4, April 2026.
Investigation of IFN signaling in cultured skin fibroblasts from patients with genetically confirmed mitochondrial diseases of diverse origins revealed that altered IFN signaling is an inconsistent feature of these disorders. Cytosolic accumulation of mtDNA and mtRNA was variably detected and showed little correlation with ISG scores.
Manon Marchais, Alessandra Pennisi, Alexandre Pierga, Alice Lepelley, Nicolas Cagnard, Christine Bole, Patrick Nitschke, Mohamed Hamici, Frédéric Rieux‐Laucat, Manuel Schiff, Arnold Munnich, Agnès Rötig   +11 more
wiley   +1 more source

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, Volume 28, Issue 2, Page 344-358, April 2026.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

POLG‐Related Parkinsonism with Good Response to Deep Brain Stimulation

Movement Disorders Clinical Practice, EarlyView.
Evdokia Efthymiou, Fabian Büchele, Sujitha Mahendran, Lennart Stieglitz, Bettina Balint   +4 more
wiley   +1 more source

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

Anterior Ethmoid Artery Ligation for Epistaxis: A Systematic Review

Laryngoscope Investigative Otolaryngology, Volume 11, Issue 2, April 2026.
ABSTRACT Objective For intractable epistaxis unresponsive to conservative measures, surgical intervention, such as anterior ethmoid artery ligation (AEAL), can control bleeding in the superior nasal cavity. Yet, the literature is limited around AEAL for epistaxis control.
Wynne Zheng, Christina Zhu, Jiling Chou, Jason Crossley, Timothy R. DeKlotz, Daniel B. Spielman   +5 more
wiley   +1 more source

Pyridostigmine Treatment for Pediatric Axonal Guillain–Barré Syndrome

Muscle &Nerve, Volume 73, Issue 4, Page 655-662, April 2026.
ABSTRACT Introduction/Aims Direct involvement of the neuromuscular junction (NMJ) in the inflammatory process of Guillain–Barré syndrome (GBS) has been described. Despite this, the NMJ very rarely serves as a target for direct medical intervention in GBS.
E. Zohar‐Dayan, J. Landa, S. Barak, B. Ben‐Zeev   +3 more
wiley   +1 more source

Exenterate or Not: A Simple Proposed Management Algorithm for Mucormycosis During the Era of COVID-19 in a Tertiary Eye Care Center in Egypt

Clinical Ophthalmology, 2022
Reham Refaat Shabana, Mohamed Ashraf Eldesouky, Hazem A Elbedewy Department of Ophthalmology, Faculty of Medicine, Tanta University, Tanta, Gharbeya, EgyptCorrespondence: Hazem A Elbedewy, Department of Ophthalmology, Faculty of Medicine, Tanta ...
Shabana RR, Eldesouky MA, Elbedewy HA
doaj  

Spheniodal mucocele causing bilateral optic neuropathy and ophthalmoplegia

Indian Journal of Ophthalmology, 2014
Sphenoid sinus mucocele comprises only 2% of all paranasal sinus mucoceles. In literature, there is a case report on sphenoidal mucocele causing bilateral optic neuropathy, with unilateral partial recovery and cranial nerve palsy, but we did not come ...
Ambika Selvakumar, Balasubramanyam Mahalaxmi, V Ananth, Cugati Gautam   +3 more
doaj   +1 more source