Results 11 to 20 of about 7,742,036 (343)

NF1 with Multiple Cardiac Structural Abnormalities Leading to Cerebral Infarction [PDF]

Diagnostics
Background/Objectives: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder driven by mutations in the NF1 gene, whose pathogenesis centers on the loss of neurofibromin function and subsequent hyperactivation of the RAS/MAPK pathway. Notably,
Jingwei Ye, Yiyi Jiang, Hanmin Wang, Dan Wang   +3 more
doaj   +2 more sources

Eye Movement Abnormalities in Multiple Sclerosis: Pathogenesis, Modeling, and Treatment

Frontiers in Neurology, 2018
Multiple sclerosis (MS) commonly causes eye movement abnormalities that may have a significant impact on patients’ disability. Inflammatory demyelinating lesions, especially occurring in the posterior fossa, result in a wide range of disorders, spanning ...
Alessandro Serra, Clara G. Chisari, Manuela Matta   +2 more
doaj   +2 more sources

Sepsis: multiple abnormalities, heterogeneous responses, and evolving understanding.

Physiol Rev, 2013
Iskander KN, Osuchowski MF, Stearns-Kurosawa DJ, Kurosawa S, Stepien D, Valentine C, Remick DG.   +6 more
europepmc   +2 more sources

Pathological Laughter, Multiple Sclerosis, Behavioural Abnormality [PDF]

Medical Journal Armed Forces India, 2006
Pathological laughter (Fou rire prodromique) is an uncommon clinical manifestation of lesion involving cerebro-brainstem-cerebellar pathways which control the laughter [1]. Existence of laughing centre has been hypothecated in the basal pons. Pre motor cortex, and anterior cingulate gyrus initiates motor component of the laughter and basal temporal and
M N, Swamy, S, Johri, S P, Gorthi, A K, Dubey, J R, Sharma, G V, Ramdas, K K, Yadav   +6 more
openaire   +4 more sources

Characterization of cytogenetic abnormalities in Lebanese multiple myeloma patients [PDF]

BMC Cancer
Background Multiple Myeloma (MM) is a hematological malignancy originating from the bone marrow and affecting the germinal lymphoid B cells, resulting in abnormal plasma cells and end organ damage.
Guitta Najem, Chloe Kharsa, Hampig Raphael Kourie, Joseph Kattan, Fadi Nasr, Fadi El Karak, Jad Wakim, Marwan Ghosn, Georges Chahine, Colette Hanna, Rachel El Ferkh, Chantal Farra, Alain Chebly   +12 more
doaj   +2 more sources

Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella [PDF]

American Journal of Human Genetics, 2017
Shuyan Tang, Xiong Wang, Weiyu Li, Xiaoyu Yang, Zheng Li, Wangjie Liu, Caihua Li, Zijue Zhu, Lingxiang Wang, Jiaxiong Wang, Ling Zhang, Xiaoling Sun, Erlei Zhi, Hongyan Wang, Hong Li, Jin Li, Yang Luo, Jian Wang, Shenmin Yang, Feng Zhang   +19 more
openalex   +2 more sources

Anatomical mapping of vascular anomalies of the lips [PDF]

Revista Brasileira de Cirurgia Plástica, 2020
Introduction: The lip is the body region more often affected by vascular anomalies (VAs). Identifying the appropriate etiology of the lesion is significantly important when determining the treatment of choice for the patient.
Rafael Ferreira Zatz, Dov Charles Goldenberg, Vânia Kharmandayan, Esther Mihwa Choi, Rolf Gemperli   +4 more
doaj   +1 more source

Familial Cancers of Head and Neck Region [PDF]

Journal of Clinical and Diagnostic Research, 2017
Cancers that occur in families more often than would be expected by chance are termed as familial cancers. They occur due to an inherited genetic mutation and account for 5%-10% of all cancers.
Reshma Venugopal, Radhika Manoj Bavle, Paremala Konda, Sudhakara Muniswamappa, Soumya Makarla   +4 more
doaj   +1 more source

Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice

Frontiers in Cell and Developmental Biology, 2021
Asthenozoospermia accounts for over 80% of primary male infertility cases. Reduced sperm motility in asthenozoospermic patients are often accompanied by teratozoospermia, or defective sperm morphology, with varying severity.
J. Hwang, Shoaib Nawaz, Jungmin Choi, Huafeng Wang, S. Hussain, Mehboob Nawaz, F. López-Giráldez, Kyungjo Jeong, W. Dong, Jong-Nam Oh, K. Bilguvar, S. Mane, Chang-Kyu Lee, C. Bystroff, R. Lifton, W. Ahmad, J. Chung   +16 more
semanticscholar   +1 more source

Periventricular magnetisation transfer abnormalities in early multiple sclerosis

NeuroImage: Clinical, 2022
Objective: Recent studies suggested that CSF-mediated factors contribute to periventricular (PV) T2-hyperintense lesion formation in multiple sclerosis (MS) and this in turn correlates with cortical damage.
Lukas Pirpamer, Bálint Kincses, Zsigmond Tamás Kincses, Christian Kiss, Anna Damulina, Michael Khalil, Rudolf Stollberger, Reinhold Schmidt, Christian Enzinger, Stefan Ropele   +9 more
doaj   +1 more source