Results 61 to 70 of about 1,729 (232)

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P [PDF]

, 2017
In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named ‘scapuloperoneal syndrome type Kaeser' (OMIM #181400).
Born, C., Bulst, S., Fischer, D., Frey, J. R., Huebner, A., Klutzny, U., Krause, K. H., Kress, W., Lochmüller, H., Reilich, P., Schoser, B. G., Schröder, R., Vorgerd, M., Walter, M. C.   +13 more
core  

Next‐generation sequencing in newborn screening: Current status, challenges, and future perspectives

Pediatric Investigation, EarlyView.
Newborn screening shifts from biochemical to genetic methods. Global exploration is promising but requires overcoming challenges and international collaboration to optimize implementation. ABSTRACT Newborn screening (NBS) is a key public health intervention that improves children's health outcomes by enabling precise intervention through the early ...
Zhelan Huang, Wenhao Zhou
wiley   +1 more source

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients [PDF]

, 2017
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal accumulation of several proteins within skeletal muscle fibres.
Brodherr, Turgut, Bruchertseifer, Vera, Eger, Katharina, Fischer, Dirk, Fürst, Dieter O., Germing, Alfried, Hellenbroich, Yorck, Heyer, Christoph M., Huebner, Angela, Ketelsen, Uwe-Peter, Kirschner, Janbernd, Kley, Rudolf A., Lochmüller, Hanns, Müller, Klaus, Peters, Sören A., Reum, Conny, Schröder, Rolf, Tolksdorf, Karen, van der Ven, Peter F. M., Vorgerd, Matthias, Walter, Maggie C.   +20 more
core  

Pediatric spinal ependymomas: Long‐term surgical outcomes in a cohort of 61 cases

Pediatric Investigation, EarlyView.
Spinal ependymomas are rare in children, with limited long‐term outcome data. In this retrospective study of 61 pediatric patients undergoing surgical resection, gross total resection was achieved in 62.3% and was associated with favorable functional improvement. Recurrence was observed in 31.1% of cases.
Liang Zhang, Xingyu Liu, Bo Han, Wenqing Jia   +3 more
wiley   +1 more source

Establishment and Comparative Analysis of Radiation‐Induced Liver Disease in Normal and Fibrotic Rat Models

Precision Radiation Oncology, EarlyView.
This study successfully established two novel rat models of radiation‐induced liver disease (RILD), one in healthy livers and the other in TAA‐induced fibrotic livers, providing valuable insights into the combined effects of radiation and pre‐existing fibrosis.
Yanting Jiang, Yuxi Ding, Fang Wang, Danni Chen, Weixiang Zhong, Zhongjie Lu, Yixiang J. Wang, Senxiang Yan, Xiaoguang Liu, Feng Zhao   +9 more
wiley   +1 more source

The Relationship between Osteogenesis Imperfecta and Spinal Muscular Atrophy [PDF]

, 2011
ObjectiveA 4-month-old female with osteogenesis imperfecta (OI) type II was admitted in PICU of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated.
Fahimzad, Alireza, Karimi, Abdollah, Soltani, Babak, Talebian, Mahshid   +3 more
core   +2 more sources

‘Expression is power’: Gender, residual culture and political aspiration at the Cumnock School of Oratory, 1870–1900

Gender &History, EarlyView.
Abstract This article investigates the ways in which late‐nineteenth‐century students at Northwestern University's Cumnock School of Oratory mobilised elocution training and parlour performance to foster mixed‐gender public discourse. I use student publications to reconstruct parlour meetings in which women and men adapted traditions of conversational ...
Fiona Maxwell
wiley   +1 more source

Motor Disability and Resilience in University Students [PDF]

, 2018
Motor disability is a situation that induces disadvantage in people who suffer from it about healthy people. This situation can be accentuated in the case of university students who must fulfill diverse activities that demand different degrees of ...
Briones, M. F. (Marcelo), Intriago, H. A. (Hipatia), Ruiz, M. S. (Marlene)   +2 more
core  

Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients [PDF]

, 2005
In view of the paucity of deletion studies of survival of motor neuron (SMN) and neuronal apoptosis inhibitor protein (NAIP) genes in Indian SMA patients, this study has been undertaken to determine the status of SMN1, SMN2 and NAIP gene deletions in ...
Kalita, J., Kesari, A., Mishra, V. N., Misra, U. K., Mittal, B., Patil, S. J., Phadke, S. R., Pradhan, S.   +7 more
core   +1 more source

Imaging of Abdominal Complications in Children With Acute Lymphoblastic Leukaemia

Journal of Medical Imaging and Radiation Oncology, EarlyView.
ABSTRACT Acute lymphoblastic leukaemia (ALL) is the most common paediatric malignancy and remains one of the most common causes of cancer‐related death in children and adolescents. Five‐year overall survival rates now exceed 90% with current multidrug chemotherapeutic regimens. This improvement, coupled with the toxicity of chemotherapy, has led to the
Luke R. Holmes, Rishi S. Kotecha, Derek J. Roebuck   +2 more
wiley   +1 more source