Results 71 to 80 of about 8,115 (216)

Advanced‐Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Introduction Swyer syndrome is a genetic abnormality characterized by a 46,XY karyotype in a phenotypically female individual. Affected individuals typically have average or tall stature, unambiguous genitalia at birth, the presence of Müllerian structures, and bilateral streak gonads.
Süleyman Cemil Oğlak, Nilgün Söğütçü, Sedat Akgöl, Özgür Adıgüzel, Hümeyra Elif Ateş Eminoğlu, Gizem Güzel, Veysi Balcı, Emine Acar, Abdullah Acar, Fuat Bozan, Aneek Das Bhowmik   +10 more
wiley   +1 more source

Congenital Insensitivity to Pain: A Fatal Entity

Indian Journal of Medical Specialities
Congenital insensitivity to pain (CIP), also known as congenital analgesia, is an autosomal recessive, extraordinarily rare condition, in which a patient cannot feel pain in any part of his or her body.
Debojit Biswas, Paramita Thander, Moumita Pati, Pankaj Halder   +3 more
doaj   +1 more source

Autosplenectomy in a Patient With Autoimmune Polyglandular Syndrome Type 2 (APS‐2)

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Autoimmune glandular syndrome type 2 is a complex genetic condition where a triad of endocrinopathies is involved, namely, Addison’s disease, type 1 diabetes, and/or autoimmune thyroid disorder. The disease predisposes one to a variety of other autoimmune associations.
Luqman S. Fauzi, Airin Jyoty, Yashwin Sredharan, Manohara Kenchaiah, Osamu Isozaki   +4 more
wiley   +1 more source

Anesthetic management of a patient with congenital insensitivity to pain with anhidrosis by coadministration of remifentanil

JA Clinical Reports, 2018
Background Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease characterized by unexplained fever, systemic insensitivity to pain, anhidrosis, and mental distress.
Yoko Takeuchi, Yoshihito Fujita, Takeshi Shimomura, Shuji Kurokawa, Hiroki Noguchi, Yoshihiro Fujiwara   +5 more
doaj   +1 more source

Dental management of oral self-mutilation in neurological patients : a case of congenital insensitivity to pain with anhidrosis [PDF]

, 2008
Hereditary sensory and autonomic neuropathy type IV is a rare disease characterized by fever episodes, mental retardation of different intensity, recurrent episodes of fever secondary to anhidrosis, little or no perspiration and congenital ...
García Recuero, Ignacio Ismael, Romance García, Ana, Romero Maroto, Martín, Simón de las Heras, Rogelio   +3 more
core  

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly [PDF]

, 2016
Background: Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/phenotype
Anne Debant, Ba, Barbelanne, Bellanger, Bragin, Briançon-Marjollet, Cannet, Catherine Mercer, Chhatriwala, Christine Fagotto-Kaufmann, David Goudie, de Ligt, DeLano, Dent, Dent, Deo, Diana Baralle, Eleanor G Seaby, Estrach, Etienne-Manneville, Govek, Grix, Hu, Huber, M Reza Jabalameli, Ma, McLaren, McPherson, Mercer, Michael J Parker, O'Brien, Peng, Pengelly, Pengelly, Portales-Casamar, Reuben J Pengelly, Robinson, Sarah Ennis, Sarju G Mehta, Schmidt, Skowronek, Stephanie Greville-Heygate, Susanne Schmidt, van Bokhoven, van Haren, Zong   +45 more
core   +5 more sources

Clinical progress note: Varicella Zoster

Journal of Hospital Medicine, Volume 20, Issue 12, Page 1348-1350, December 2025.
Abstract Varicella Zoster virus (VZV) is the etiologic agent responsible for varicella and herpes zoster (shingles). Nonimmune children and adults acutely infected with VZV typically experience a vesicular and pruritic rash that progresses from the face and trunk and generalizes to the extremities, accompanied by an oral enanthem along with symptoms of
Sirey Zhang, Adam L. Hersh, T. W. Jones
wiley   +1 more source

Regenerating the Senses: Stem Cell‐Derived Sensory Neurons and Functional Genomics in Neurological Disorders

Sensory Neuroscience, Volume 1, Issue 3, December 2025.
ABSTRACT Sensory neuron disorders, such as peripheral neuropathies and trigeminal neuralgia, cause chronic pain and sensory dysfunction; however, regenerative treatments are limited. Human pluripotent stem cells (hPSCs) provide a powerful platform to model these diseases by generating functional sensory neuron subtypes, including nociceptors and ...
Pushpanathan Muthuirulan, Avanthika Nityanand, Anjali Pandit, Vaishnavi Gururajan   +3 more
wiley   +1 more source

Analgesic Effects of GpTx-1, PF-04856264 and CNV1014802 in a Mouse Model of NaV1.7-Mediated Pain [PDF]

, 2016
Loss-of-function mutations of NaV1.7 lead to congenital insensitivity to pain, a rare condition resulting in individuals who are otherwise normal except for the inability to sense pain, making pharmacological inhibition of NaV1.7 a promising therapeutic ...
Alewood, P., Dekan, Z., Deuis, J., Durek, T., Hoffmann, T., Lewis, R., Nassar, M., Sousa, S., Vetter, I., Weidner, C., Wingerd, J., Winter, Z., Zimmermann, K.   +12 more
core   +2 more sources

Antimicrobial prescribing guidelines for horses in Australia

Australian Veterinary Journal, Volume 103, Issue 12, Page 781-889, December 2025.
The growing problem of antimicrobial resistance also affects equine veterinarians with increasing frequency. Antimicrobial stewardship and responsible prescribing are essential for a future in which effective antimicrobials are available, as it is unlikely that new antimicrobials will become available for use in horses.
L Hardefeldt, K Thomas, S Page, J Norris, G Browning, C El Hage, A Stewart, J Gilkerson, G Muscatello, D Verwilghen, G van Galen, J Bauquier, R Cuming, B Reynolds, C Whittaker, E Wilkes, J Clulow, C Burden, L Begg   +18 more
wiley   +1 more source