Results 161 to 170 of about 20,847 (278)

A Dermal Plaque on the Arm

JEADV Clinical Practice, EarlyView.
Claudine Howard‐James, Aisling Nolan, Graham Woods, Ian McDonald   +3 more
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

From trench fever to endocarditis. [PDF]

Postgrad Med J, 2003
Mann P, Nye F, Williams G, Walker A, Amadi A.   +4 more
europepmc   +1 more source

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Body lice and scabies co-infestation among unsheltered migrants, refugees, and asylum seekers and the right to water and sanitation. [PDF]

PLoS Negl Trop Dis
Boodman C, van den Boogaard W, Benedetti G, Zamatto F, D'incà A, Arsenijević J, Janisch T, Sunyoto T, Leclair C.   +8 more
europepmc   +1 more source

New Brunswick’s Artillery Goes to War, 1914-1915 [PDF]

, 2015
Lee Windsor, Roger Sarty
core   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

Severe Scrotal Cellulitis in a Young Man

JEADV Clinical Practice, EarlyView.
Hamad El Hajj, Vera Al Baaklini, Dima Jeha, Alfred Ammoury   +3 more
wiley   +1 more source

The Expanding Landscape of Microbiota Medicine: Indications, Therapeutic Modalities, and the Path Towards Integrative Microbiome‐Targeting Healthcare

Microbiota Medicine Research, EarlyView.
ABSTRACT The growing recognition of the microbiome's role in human health has propelled the emergence of microbiota medicine—a new discipline integrating microbiology, multi‐omics, and clinical science. Advances in sequencing, data integration, and interventions such as fecal microbiota transplantation (FMT) have transitioned the field from ...
Min Dai, Yisha Lin, Renyou Gan, Xiaotao Shen, Shin Young Park, Sunjae Lee, Qi Su   +6 more
wiley   +1 more source

Nanjing Consensus II on Washed Microbiota Transplantation: Statements From the CHINAGUT Conference

Microbiota Medicine Research, EarlyView.
ABSTRACT The new method of fecal microbiota transplantation, based on automatic facilities and washing processes, was coined as washed microbiota transplantation (WMT). The first recommendations on WMT were released as Nanjing Consensus report by the fecal microbiota transplantation (FMT)‐standardization Study Group in 2019.
Faming Zhang, Sunny Hei Wong, Gaochen Lu, Zheshun Pi, Ting Zhang, Hon Ho Yu, Nan Bu, Xiong Chen, Bota Cui, Dafa Ding, Hainv Gao, Suyu He, Xingxiang He, Shengjuan Hu, Jia Hu, Yunlian Hu, Xiaomeng Jiang, Jiang Jin, Jingnan Li, Pan Li, Juan Liao, Weiwei Liao, Jiang Liu, Ling Liu, Yaping Liu, Yanyan Liu, Yu Liu, Muhan Lv, Xiangjun Meng, Yongzhan Nie, Qian Ren, Lixuan Sang, Yang Sun, Xiaowen Tang, Liangjing Wang, Wei Wang, Xin Wang, Yanling Wei, Quan Wen, Lihao Wu, Xia Wu, Fang Xiao, Lijing Xiong, Shaoqi Yang, Song Yang, Guoliang Ye, Yue Zeng, Huihong Zhai, Xiaoqian Zhang, Yu Zhang, Kun Zhao, Li Zhou, Li Zhu, Kaichun Wu   +53 more
wiley   +1 more source