Results 211 to 220 of about 277,238 (258)

Outcomes of surgical, medication and combination therapies for cherubism: a systematic review and qualitative analysis. [PDF]

Front Oral Health
Julia V, Sulistyani LD, Aryyaguna D, Nuita R, Shinta Maharani E, Purnomo J, Ariawan D, Latief MA, Utomo YA, Ratman MF, Nakamura N.   +10 more
europepmc   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Lymphatic Embolization for Lymphatic Leakage After Pelvic Lymph Node Dissection: Case Report. [PDF]

IJU Case Rep
Oshima R, Kariya S, Nakatani M, Ono Y, Maruyama T, Tanaka Y, Sugiura K, Tanigawa N.   +7 more
europepmc   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Post-Total Knee Replacement Persistent Bilateral Popliteal Cysts Requiring Surgical Excision: A Literature-Based Discussion. [PDF]

Case Rep Orthop
Heenkende M, Zhou Y, Stoney JD.
europepmc   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Giant hydronephrosis mimicking subacute intestinal obstruction: A 4-case series. [PDF]

Radiol Case Rep
Ghosh S, Ghosh M, Mukherjee A, Mazumder K, Dattasarma D, Singh A, Mandal M, Praharaj A, Sardar S, Dhibar T.   +9 more
europepmc   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Bilateral subdural hematomas in spontaneous intracranial hypotension: A systematic review with case illustration. [PDF]

Surg Neurol Int
Dehnavi NS, Zaniyani FR, Bagherzadeh S, Khoshnevisan A, Amin U, Amin SW, Rogers A, Rostami M, Alikhani P, Shafizadeh M.   +9 more
europepmc   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source