Results 201 to 210 of about 406,691 (285)

Proteomic Signatures of Noise‐Induced Hearing Loss in the Mouse Cochlea

Cell Biology International, Volume 50, Issue 10, October 2026.
ABSTRACT Hearing loss affects over 1.5 billion people worldwide and has substantial social, educational, and economic consequences. Although genetic studies have identified numerous hearing‐loss‐associated genes, the molecular changes accompanying noise‐induced hearing loss (NIHL) remain incompletely understood.
Ana Carla Batissoco, Danillo Alencar‐Coutinho, Ana Carolina Ferreira‐Scatone, Stella Diogo‐Cavassana, Jeanne Oiticica, Karina Lezirovitz, Ricardo Ferreira Bento   +6 more
wiley   +1 more source

Concurrent mutations in RNU4ATAC, PLEC, and CD96 in a child with severe short stature and skeletal dysplasia: a case report. [PDF]

Ital J Pediatr
Wang H, Wang J, Chen D.
europepmc   +1 more source

Case Report: Recurrent Complicated Urinary Tract Infection in Prune Belly Syndrome With Solitary Functioning Kidney

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Recurrent UTIs in prune belly Syndrome with a markedly reduced renal function pose significant renal injury risk. Normal creatinine can mask underlying damage. Long‐term, multidisciplinary follow‐up is crucial, especially in low‐resource settings, to preserve renal function and improve patient outcomes.
Mohammed Elhadi Badawi Mahjoub, Shafee S. Almahi, Mohamed Jadain   +2 more
wiley   +1 more source

Skeletal Dysplasias

, 2011
  +5 more sources

Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia. [PDF]

Eur J Pediatr
Daşar T, İmren G, Yıldız AE, Demir GÜ, Utine GE, Yılmaz G, Kiper PÖŞ.   +6 more
europepmc   +1 more source

Dermatomyositis as a Paraneoplastic Syndrome Secondary to Carcinoma of Cervix: A Rare Clinical Association

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Dermatomyositis (DM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and distinctive cutaneous manifestations. It is frequently associated with underlying malignancies, making recognition of paraneoplastic features crucial.
Manisha Chapagain, Paras Adhikari, Niranjan Pudasaini, Sabin Poudel, Bijay Timilsina   +4 more
wiley   +1 more source

Mutations in fibronectin dysregulate chondrogenesis in skeletal dysplasia. [PDF]

Cell Mol Life Sci
Dinesh NEH, Rousseau J, Mosher DF, Strauss M, Mui J, Campeau PM, Reinhardt DP.   +6 more
europepmc   +1 more source

Prevalence of Rare Diseases in Consanguineous Marriages: A Case of Ullrich Muscular Dystrophy in a Resource‐Limited Setting

Clinical Case Reports, Volume 14, Issue 10, October 2026.
Ullrich Muscular Dystrophy in Consanguineous Marriage. ABSTRACT In regions with high consanguinity, rare recessive disorders like Ullrich congenital muscular dystrophy (UCMD) may present at birth with hypotonia and respiratory distress. To enhance quality of life and prevent recurrence in future pregnancies, early recognition, genetic counseling, and ...
Kanza Farhan, Muhammad Burhan Tariq, Amna Farhan, Erma Khalid, Suhaira Hafeez Syed, Mohammed Hammad Jaber Amin   +5 more
wiley   +1 more source

Juvenile idiopathic arthritis or skeletal dysplasia: first case report of camptodactyly-arthropathy-coxa vara-pericarditis from Iran. [PDF]

BMC Musculoskelet Disord
Shashaani N, Javadi V, Rahmani K, Shiari R.   +3 more
europepmc   +1 more source

Symptomatic Calcaneal Intraosseous Lipoma Mimicking Refractory Heel Pain: A Case Report and Review of the Literature

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Intraosseous lipomas (IOLs) are rare benign primary bone tumors, most commonly affecting the calcaneus. Although often asymptomatic, IOLs may present with persistent heel pain mimicking plantar fasciitis. Accurate diagnosis depends on characteristic radiological features, whereas the management strategy remains debated between conservative and
Ayham Qatza, Hadi Alabdullah, Moayad Mosleh, Omar Zakkour, Ali Youssef   +4 more
wiley   +1 more source