Factor VIII Intron 22 Inversion in Severe Hemophilia A Patients in Palestine by Caesar Mahmoud Abu Arra, Fekri Samarah, Nael Sudqi Abu Hasan

“…Hemophilia A is an X-linked recessive bleeding disorder caused by mutations in FVIII gene with an incidence of 1 in 5,000 to 10,000 live born males. …”
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Couple dynamics and interaction needs with healthcare professionals in long-term neurological rehabilitation: A hermeneutic qualitative study by Alexa von Bosse, Peter König, Eva Jansen

“…Data analysis followed the documentary method, emphasizing socio-genetic type building to classify patient, caregiver, and relationship types. …”
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The Role of Neuroglia in the Development and Progression of Schizophrenia by Neha S. Rawani, Allen W. Chan, Kathryn G. Todd, Glen B. Baker, Serdar M. Dursun

“…Schizophrenia is a complex heterogenous disorder thought to be caused by interactions between genetic and environmental factors. …”
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Endothelial and neuronal engagement by AAV-BR1 gene therapy alleviates neurological symptoms and lipid deposition in a mouse model of Niemann-Pick type C2 by Charlotte Laurfelt Munch Rasmussen, Signe Frost Frederiksen, Christian Würtz Heegaard, Maj Schneider Thomsen, Eva Hede, Bartosz Laczek, Jakob Körbelin, Daniel Wüstner, Louiza Bohn Thomsen, Markus Schwaninger, Ole N. Jensen, Torben Moos, Annette Burkhart

“…Abstract Background Patients with the genetic disorder Niemann-Pick type C2 disease (NP-C2) suffer from lysosomal accumulation of cholesterol causing both systemic and severe neurological symptoms. …”
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S1PR3-driven positive feedback loop sustains STAT3 activation and keratinocyte hyperproliferation in psoriasis by Panpan Lian, Li Li, Renwei Lu, Bin Zhang, Junaid Wazir, Chaode Gu, Bojie Ma, Wenyuan Pu, Wangsen Cao, Zhiqiang Huang, Zhonglan Su, Hongwei Wang

“…Abstract Psoriasis is a chronic inflammatory skin disorder characterized by hyperproliferation of keratinocytes and persistent inflammation. …”
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Should we consider microbiota-based interventions as a novel therapeutic strategy for schizophrenia? A systematic review and meta-analysis by Lucas Hassib, Alexandre Kanashiro, João Francisco Cordeiro Pedrazzi, Bárbara Ferreira Vercesi, Sayuri Higa, Íris Arruda, Yago Soares, Adriana de Jesus de Souza, Alceu Afonso Jordão, Francisco Silveira Guimarães, Frederico Rogério Ferreira

“…Schizophrenia is a chronic psychiatric disorder characterized by a variety of symptoms broadly categorized into positive, negative, and cognitive domains. …”
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Loss of MEF2C function by enhancer mutation leads to neuronal mitochondria dysfunction and motor deficits in mice by Ali Yousefian-Jazi, Suhyun Kim, Jiyeon Chu, Seung-Hye Choi, Phuong Thi Thanh Nguyen, Uiyeol Park, Min-gyeong Kim, Hongik Hwang, Kyungeun Lee, Yeyun Kim, Seung Jae Hyeon, Hyewhon Rhim, Hannah L. Ryu, Grewo Lim, Thor D. Stein, Kayeong Lim, Hoon Ryu, Junghee Lee

“…Both genetic alterations and epigenetic modifications contribute to neuronal dysfunction in the pathogenesis of ALS. …”
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Hemophagocytic Lymphohistiocytosis Associated with Respiratory Syncytial Virus Infection in an Immunocompetent Elderly Patient by Ralph Kamel, Rubal Sharma, Divya Asti, Arshpal Gill, Yevgeniy Skaradinskiy

“…Hemophagocytic lymphohistiocytosis is a serious and potentially fatal disorder characterized by excessive immune system activation. …”
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Sekwencjonowanie genomu/eksomu człowieka - aspekt bioetyczny by Andrzej Kochański

“…In recent years we have observed a technological revolution in genetics. For years molecular diagnostics in genetic disorders were limited to a single gene or to a group of genes. …”
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Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family by Y. N. Khan, M. Imad A.M. Mahmud, N. Othman, H. M. Radzuan, S. Basit

“…Frank–Ter Haar syndrome (FTHS) is a rare genetic hereditary autosomal recessive disorder characterized by defective malformation of cardiovascular, craniofacial, and skeletal system. …”
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Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis by Shiyue Ma, Lingjian Tang, Chaoli Wu, Hui Tang, Xue Pu, Jinhong Niu

“…Hereditary spherocytosis (HS) is a chronic hemolytic disorder caused by inherited defects in the red blood cell membrane. …”
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Genome-Wide Association Study of Metabolic Syndrome in Koreans by Seok Won Jeong, Myungguen Chung, Soo-Jung Park, Seong Beom Cho, Kyung-Won Hong

“…Metabolic syndrome (METS) is a disorder of energy utilization and storage and increases the risk of developing cardiovascular disease and diabetes. …”
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A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report by Yonghong Wang, Yongxiang Li, Wei Pan, Yuezhen Shen, Junxia Li, Ying Liu, Yuhua Peng, Shulai Zhu

“…Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by the presence of inclusions within the nuclei of various cell types. …”
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The effect of AKT inhibition in α-synuclein-dependent neurodegeneration by Bedri Ranxhi, Zoya R. Bangash, Zachary M. Chbihi, Sokol V. Todi, Sokol V. Todi, Peter A. LeWitt, Peter A. LeWitt, Peter A. LeWitt, Wei-Ling Tsou

“…Parkinson’s disease (PD) is a progressive neurodegenerative disorder affecting millions of individuals worldwide. …”
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First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis by Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu

“…Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. …”
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Combination of Gilbert's syndrome and gastrointestinal diseases by G. M. Dubrovina, O. K. Botvinyev, A. I. Kolotilina

“…Patients demonstrate various complaints related to disorders — nausea, decrease of appetite, heartburn, epigastric pain, defecation disorders. …”
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Perioperative Management of a Patient with Hereditary Angioedema and Intestinal Obstruction Secondary to an Ileal Tumor: A Case Report by Antony Peter Gatheru, Anne Kasyoka Barasa, Isaac Karogo Mwangi, Stanley Ngare, Dan Kiptoon, Edwin Oloo Walong

“…Hereditary angioedema (HAE) is a rare genetic disorder resulting from deficiency or dysfunction of the C1-esterase inhibitor (C1-INH, C1-inhibitor) protein. …”
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Does Clostridium Perfringens Epsilon Toxin Mimic an Auto-Antigen Involved in Multiple Sclerosis? by Marie-Lise Gougeon, Valérie Seffer, Cezarela Hoxha, Elisabeth Maillart, Michel R. Popoff

“…Multiple sclerosis (MS) is a chronic immune-mediated neurological disorder, characterized by progressive demyelination and neuronal cell loss in the central nervous system. …”
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Morphological features of bovine placenta in case of viral, bacterial and protozoal infections by O. V. Sokolova, L. I. Drozdova, I. A. Shkuratova

“…The presence of the pathogen was confirmed by serological and molecular genetic methods. The material used for histological studies was the fetal part of placenta. …”
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Thyroid Function in Chronically Transfused Children with Beta Thalassemia Major: A Cross-Sectional Hospital Based Study by Suraj Haridas Upadya, M. S. Rukmini, Sowmya Sundararajan, B. Shantharam Baliga, Nutan Kamath

“…Thalassemia is the most common genetic disorder worldwide. Use of iron chelators has improved survival but endocrine complications have become more frequent. …”
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