Results 61 to 70 of about 5,948 (186)

The creation of transgenic animal “models” for human genetic disease [PDF]

, 1992
Transgenic animals will be created to study human genetic disease as soon as the technological capability exists to do so. Extant laws permit such animals to be created. The mindset of the research community makes it inevitable.
Rollin, Bernard E.
core  

Congenital Insensitivity to Pain With Anhidrosis: First Reported Case in Nepal

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder characterized by anhidrosis, self‐mutilation, and insensitivity to pain and temperature. While genetic testing confirms the diagnosis, it is not always feasible, making clinical recognition crucial in resource‐limited settings.
Sobin Pant, Dibij Adhikari, Prakash Pandey, Binit Bajracharya, Rizuna Sharma   +4 more
wiley   +1 more source

Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation

Stem Cell Research
Lesch-Nyhan syndrome (LNS, MIM300322) is a rare inherited disorder caused by mutations in HPRT1 gene. Here we describe the generation of induced pluripotent stem cells (iPSCs) from an infected child carrying the HPRT1 mutation c.508C > T(p.R170X) by ...
Yue Li, Huawei Zhang, Jingyun Guan, Bin Wang, Haiyan Zhang, Yi Liu, Zhongtao Gai   +6 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  

Development and Preliminary Validation of a Parkinsonism‐Dystonia Scale for Infants and Young Children

Movement Disorders, Volume 40, Issue 8, Page 1669-1679, August 2025.
Abstract Background Parkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale.
Roser Pons, Toni S. Pearson, Belen Perez‐Dueñas, Angels Garcia‐Cazorla, Manju A. Kurian, Zoi Dalivigka, Vasiliki Zouvelou, Chrysa Outsika, Eleftheria Kokkinou, Maria Sigatullina‐Bondarenko, Alejandra Darling, Maria del Mar O'Callaghan, Robert Spaull, Dora B.D. Steel, Evdokia Salamou, Maria João Forjaz, Carmen Rodriguez‐Blazquez   +16 more
wiley   +1 more source

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome

Journal of Intellectual Disability Research, Volume 69, Issue 8, Page 682-692, August 2025.
ABSTRACT Background Challenging behaviours such as self‐injury and aggression are prevalent among individuals with intellectual disability (ID), significantly impacting quality of life. Cardiofaciocutaneous syndrome (CFCS), a rare multisystem genetic disorder caused by variants in the BRAF, MAP2K1, MAP2K2, or KRAS genes, commonly presents with ID and ...
Dante J. Rogers, Rebekah L. Hudock, Adele F. Dimian, Josue Collazo‐Lopez, Ryan Shanley, Elizabeth I. Pierpont   +5 more
wiley   +1 more source

Digital Psychological Wellbeing Interventions for Family Carers of Children and Adults With Intellectual and Developmental Disabilities: A Systematic Review

Journal of Applied Research in Intellectual Disabilities, Volume 38, Issue 4, July 2025.
ABSTRACT Background This review explored (1) what digital psychological wellbeing interventions for family carers of people with intellectual and developmental disabilities were reported in the literature, (2) evidence about their effectiveness, (3) factors affecting their implementation and (4) experiences of family carers who attend them.
Magda M. Apanasionok, Andreas Paris, Joanna Griffin, Richard P. Hastings, Ellie Finch, Debbie Austin, Samantha Flynn   +6 more
wiley   +1 more source

Lesch–Nyhan syndrome in a female patient: exploring uncommon symptomatology

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Lesch–Nyhan syndrome is a disorder associated with the inadequacy of the hypoxanthine phosphoribosyl-transferase 1 enzyme, which plays a significant role in the purine salvage pathway that leads to urate overproduction and its range of neurological ...
Apeksha Merja, Avinash Khadela, Shruti Soni, Hetvi Bharadia, Vraj B. Shah   +4 more
doaj   +1 more source

Habitual biting of a finger in a child

Indian Journal of Paediatric Dermatology, 2017
A 3-year-old male child was brought by his parents with a nonhealing ulcer on the right middle finger having no significant history except for an injury sustained to the right elbow in December 2013. On further probing, the mother revealed that the child
K N Sarveswari, M Riswana Jasmine, N Mahesh   +2 more
doaj   +1 more source

Management of Lacerated and Swollen Tongue after Convulsive Seizure with a Mouth Protector: Interprofessional Collaboration Including Dentists in Intensive Care [PDF]

, 2014
We encountered a 74-year-old male patient with tongue laceration after convulsive seizures under intensive care. The tongue showed severe swelling, and the right ventral surface had been lacerated by his isolated and pointed right lower canine.
Morimatsu, Hiroshi, Morita, Manabu, Moriya, Yoshie, Okui, Akemi, Sato, Kenji, Soga, Yoshihiko, Takeuchi, Tetsuo, Yamanaka, Reiko   +7 more
core   +1 more source