Results 151 to 160 of about 50,007 (274)

Modified Manual Therapeutic Plasma Exchange Technique as a Successful Treatment for Postattenuation Neurological Signs (PANS) in a Dog

Journal of Veterinary Emergency and Critical Care, EarlyView.
ABSTRACT Objective To investigate and describe the therapeutic potential of manual plasma exchange for controlling seizures and neurologic dysfunction in a dog with postattenuation neurologic signs (PANS). Case Summary A 4‐year‐old neutered female Yorkshire Terrier was initially diagnosed using computed tomography with a congenital extrahepatic ...
Marcos Fumero‐Hernández, Marta Ribas, Patricia Bou, Carlos Torrente, Luis Bosch   +4 more
wiley   +1 more source

Effect of artificial gravity on calcaneal bone marrow adipose tissue and mineral content in female and male participants in 60 days of bed rest

Experimental Physiology, EarlyView.
Abstract Modulation of bone marrow adipose tissue (BMAT) with prolonged inactivity was reported in haemopoietic but not in non‐haemopoietic bones. This prospective randomized controlled trial submitted 16 men and 8 women to 60 days of 6° head‐down‐tilt bed rest.
Tammy Liu, Gerd Melkus, Tim Ramsay, Alain Berthiaume, Gabriele Armbrecht, Guy Trudel   +5 more
wiley   +1 more source

Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1884-1889, August 2026.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Infantile nystagmus syndrome with latent nystagmus [PDF]

This patient developed infantile nystagmus in early infancy due to retinopathy of prematurity. In addition to a continuous torsional pendular nystagmus, latent nystagmus was apparent with either eye covered (e.g., right-beating with right eye viewing and
Daniel R. Gold, DO
core  

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, Volume 200, Issue 8, Page 1850-1855, August 2026.
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

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1832-1841, August 2026.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Prognostic Value of Cranial Nerve Invasion in T4‐Stage Nasopharyngeal Carcinoma: A Retrospective Cohort Study With a Median Follow‐Up of 136 Months

Health Science Reports, Volume 9, Issue 8, August 2026.
ABSTRACT Background The objective of this study was to evaluate the prognostic value of cranial nerve invasion (CNI) in T4‐stage nasopharyngeal carcinoma (NPC) patients with nonmetastatic. Methods We retrospectively analyzed 299 T4‐stage NPC patients with nonmetastatic disease in the Cancer Hospital of Shantou University Medical College.
Cuidai Zhang, Hui Liu, Xuejia Liu, Yihao Ye, Zeman Cai, Zewei Chen, Qizhi Zheng   +6 more
wiley   +1 more source

Latent nystagmus [PDF]

Latent nystagmus can be distinguished from other types of nystagmus because it changes direction depending on which eye is viewing. For example, the patient has conjugate right-beating nystagmus when the right eye is viewing and left-beating nystagmus ...
Daniel R. Gold, DO
core  

The Use of Prisms in the Management of Nystagmus: A Case Series and Literature Review. [PDF]

Invest Ophthalmol Vis Sci
Bradshaw JWJ, Evans MJ, Lee H.
europepmc   +1 more source