Results 31 to 40 of about 5,944 (238)

Joubert Syndrome with Renal and Cerebral Manifestations: A Case Series of Three Siblings [PDF]

Journal of Clinical and Diagnostic Research, 2023
Joubert syndrome is a rare genetic disorder. Marie Joubert made the first official diagnosis of the syndrome in 1969. It is characterised by aberrant neurodevelopment and a complex midbrain-hindbrain malformation which can be seen on the Magnetic ...
Sushant Kumar, Ashok Bhat
doaj   +1 more source

Joubert Syndrome: A Case Report

Nepal Journal of Neuroscience, 2018
Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation.
Prakash Kafle , Sushil Krishna Shilpakar, Mohan Raj Sharma, Gopal Sedain, Amit K Pradhanang, Binod Raj Bhandari   +5 more
doaj   +1 more source

Chronic vomiting revealing Joubert syndrome: A case report

Radiology Case Reports
Joubert syndrome is a rare autosomal recessive disorder characterized by the presence of the molar tooth sign on imaging. We report the case of a 5-year-old girl diagnosed with Joubert syndrome during the investigation of chronic vomiting.
Leila Haddar, Asmae Kasimi, Karim Haddar, Hajar Errahal, Hamid Ziani, Siham Nasri, Imane Kamaoui, Imane Skiker   +7 more
doaj   +1 more source

Mid-brain molar tooth sign: expanding the clinical spectrum [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2007
A 17-year-old male, a single child of non-consanguineous parentage, presented with non-progressive gait ataxia, which he had had since childhood. He had suffered mild perinatal hypoxic injury, not requiring prolonged intensive care. Motor milestones were acquired late; he walked independently only from the age of three and swayed while walking. Despite
J N, Panicker, B, Jyothi, K P, Sreekumar
openaire   +2 more sources

Autotransplantation of mature impacted tooth to a fresh molar socket using a 3D replica and guided bone regeneration: two years retrospective case series

BMC Oral Health, 2019
Background The aim of this study was to evaluate the clinical outcome of autotransplantation of mature third molars to fresh molar extraction sockets using 3D replicas. Methods Ten patients underwent teeth autotransplantation with or without GBR.
Ye Wu, Jiaming Chen, Fuping Xie, Huanhuan Liu, Gang Niu, Lin Zhou   +5 more
doaj   +1 more source

TRAF6 Lactylation in Glycolytic Macrophages Drives NF‐κB Signaling and M1 Polarization During Orthodontic Tooth Movement

Advanced Science, EarlyView.
Schematic diagram showing compressive stress triggers glycolytic reprogramming and lactate accumulation in macrophages. Lactate mediates TRAF6 lactylation at K171/K180 dual sites, which enhances its K63‐linked ubiquitination to activate the NF‑κB pathway and promote M1 polarization. This cascade drives orthodontic tooth movement (OTM) and alveolar bone
Xinyi He, Guodong Zhao, Yun Hu, Wenya Bai, Hao Tan, Shuai Yuan, Sihan Yang, Ye Zhu, Xiaohui Xu, Leilei Zheng   +9 more
wiley   +1 more source

Novel CPLANE1 c.8948dupT (p.P2984Tfs*7) variant in a child patient with Joubert syndrome

Open Life Sciences, 2023
Joubert syndrome (JBTS) is a class of heterogeneous ciliopathy genetically associated with CPLANE1 mutations. The characteristics of clinical phenotypes and CPLANE1 variants were analyzed in a 2-month-old patient.
Wang Huiping, Nie Wensha, Wang Chunxia, Wang Zuohua, Zheng Yuxia   +4 more
doaj   +1 more source

Morphological variation in atlas and axis of Neotropical spiny rats (Rodentia, Echimyidae)

The Anatomical Record, EarlyView.
Abstract The unique morphologies of the first two cervical vertebrae, the atlas and axis, represent a significant innovation in mammalian evolution. These structures support the weight of the head and enable intricate movements of the head and neck.
Thomas Furtado da Silva Netto, João Felipe Leal Kaiuca, Adriana Itatí Olivares, William Corrêa Tavares   +3 more
wiley   +1 more source

Joubert syndrome: a case report

Bulletin of Faculty of Physical Therapy, 2021
Background Joubert syndrome (JS) is a rare autosomal recessive genetic heterogeneously inherited disorder characterized by neurological features that include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and ...
Sarfaraz Alam, Fatema Khatoon, Nazim Khan   +2 more
doaj   +1 more source

Clinical and genetic characteristics of 36 children with Joubert syndrome

Frontiers in Pediatrics, 2023
Background and aimsJoubert syndrome (JBTS, OMIM # 213300) is a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities.
Yan Dong, Yan Dong, Ke Zhang, Ke Zhang, He Yao, He Yao, Tianming Jia, Jun Wang, Dengna Zhu, Falin Xu, Meiying Cheng, Shichao Zhao, Xiaoyi Shi   +12 more
doaj   +1 more source