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[Paraneoplastic opsoclonus-myoclonus syndrome].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Kemerovo State Medical University, Kemerovo, Russia.
Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disorder characterized by a combination of main symptoms: opsoclonus, myoclonus, ataxia, psychoemotional and behavioral disturbances. OMS can develop in children as a result of immunopathological processes against the background of infectious or oncological pathology and lead to persistent neurological deficit. A case of ten-year observation of paraneoplastic OMS associated with neuroblastoma in a child is presented.
View Article and Find Full Text PDFFrom spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.
Eur J Neurol
January 2025
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
Effectiveness and Safety of Micro-Plasma Radiofrequency Treatment Combined With Autologous Chyle Fat Grafting Treatment for Hypertrophic Scars: A Retrospective Study.
J Cosmet Dermatol
January 2025
Department of Plastic and Reconstructive Surgery, Senior Department of Burns and Plastic Surgery, The Fourth Medical Center of Chinese PLA General Hospital, Beijing, China.
Background: Hypertrophic scar (HS) is a fibroproliferative disorder resulting from abnormal healing of skin tissue after injury. Although various therapies are currently employed in clinical to treat HSs, there is no widely accepted standard therapy. Micro-plasma radiofrequency (MPR) and autologous chyle fat grafting are emerging treatments for this condition, and they have demonstrated promising therapeutic outcomes in clinical applications.
View Article and Find Full Text PDFLife-Threatening Esophageal Variceal Hemorrhage in a 7-Year-Old Boy with Massive Portal Vein Enlargement Due to Congenital Arterioportal Fistula.
Am J Case Rep
December 2024
I Department of Radiology and Diagnostic Imaging, Norbert Barlicki Memorial Teaching Hospital No. 1, Medical University of Łódź, Łódź, Poland.
BACKGROUND Arterioportal fistulas (APFs) are abnormal connections between the arterial and portal venous systems, leading to portal hypertension (PH) and symptoms such as gastrointestinal bleeding, splenomegaly, and hepatic pain. Symptoms typically appear by the age of 2 years in about 75% of cases. CASE REPORT A 7-year-old boy with an asymptomatic APF developed life-threatening complications following a Clostridium difficile infection.
View Article and Find Full Text PDFAbnormalities in rich-club connections are associated with an exacerbation of genetic susceptibility to schizophrenia.
BMC Psychiatry
December 2024
The Affiliated People's Hospital of Jiangsu University, Zhenjiang First People's Hospital, No.8, Dianli Road, Zhenjiang, 212002, Jiangsu, China.
Background: Schizophrenia (SZ) is a highly heritable and heterogeneous disorder that is often associated with widespread structural brain abnormalities. However, the causes of interindividual differences in genetic susceptibility remain largely unknown. This study attempted to address this important issue by utilizing a prospective study in which unaffected first-degree relatives of SZ (FH+) were recruited.
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