المؤلفون: Mustafa Al-Zamil, Natalia A. Shnayder, Tatiana K. Davydova, Regina F. Nasyrova, Vera V. Trefilova, Ekaterina A. Narodova, Marina M. Petrova, Irina V. Romanova, Galina A. Chumakova

المصدر: Journal of Clinical Medicine; Volume 12; Issue 8; Pages: 2932

مصطلحات موضوعية: amyotrophic lateral sclerosis, syringomyelia, Chiari 1 malformation, cerebrospinal fluid, related disorder, differential diagnosis, adult, ALS mimic syndrome

الوصف: Chiari 1 Malformation (CM1) is classically defined as a caudal displacement of the cerebellar tonsils through the foramen magnum into the spinal cord. Modern imaging techniques and experimental studies disclose a different etiology for the development of CM1, but the main etiology factor is a structural defect in the skull as a deformity or partial reduction, which push down the lower part of the brain and cause the cerebellum to compress into the spinal canal. CM1 is classified as a rare disease. CM1 can present with a wide variety of symptoms, also non-specific, with consequent controversies on diagnosis and surgical decision-making, particularly in asymptomatic or minimally symptomatic. Other disorders, such as syringomyelia (Syr), hydrocephalus, and craniocervical instability can be associated at the time of the diagnosis or appear secondarily. Therefore, CM1-related Syr is defined as a single or multiple fluid-filled cavities within the spinal cord and/or the bulb. A rare CM1-related disorder is syndrome of lateral amyotrophic sclerosis (ALS mimic syndrome). We present a unique clinical case of ALS mimic syndrome in a young man with CM1 and a huge singular syringomyelic cyst with a length from segment C2 to Th12. At the same time, the clinical picture showed upper hypotonic-atrophic paraparesis in the absence of motor disorders in the lower extremities. Interestingly, this patient did not have a disorder of superficial and deep types of sensitivity. This made it difficult to diagnose CM1. For a long time, the patient’s symptoms were regarded as a manifestation of ALS, as an independent neurological disease, and not as a related disorder of CM1. Surgical treatment for CM1 was not effective, but it allowed to stabilize the course of CM1-related ALS mimic syndrome over the next two years.

وصف الملف: application/pdf

العلاقة: Clinical Neurology; https://dx.doi.org/10.3390/jcm12082932Test

الإتاحة: https://doi.org/10.3390/jcm12082932Test

المؤلفون: Alessandro Leone, Ramona De Amicis, Chiara Lessa, Anna Tagliabue, Claudia Trentani, Cinzia Ferraris, Alberto Battezzati, Pierangelo Veggiotti, Andrea Foppiani, Simone Ravella, Simona Bertoli

المصدر: Nutrients; Volume 11; Issue 5; Pages: 1104

مصطلحات موضوعية: ketogenic diet, food, epilepsy, glucose transporter 1 deficiency syndrome, pyruvate dehydrogenase deficiency, children, adult

جغرافية الموضوع: agris

الوصف: The ketogenic diet (KD) is the first line intervention for glucose transporter 1 deficiency syndrome and pyruvate dehydrogenase deficiency, and is recommended for refractory epilepsy. It is a normo-caloric, high-fat, adequate-protein, and low-carbohydrate diet aimed at switching the brain metabolism from glucose dependence to the utilization of ketone bodies. Several variants of KD are currently available. Depending on the variant, KDs require the almost total exclusion, or a limited consumption of carbohydrates. Thus, there is total avoidance, or a limited consumption of cereal-based foods, and a reduction in fruit and vegetable intake. KDs, especially the more restrictive variants, are characterized by low variability, palatability, and tolerability, as well as by side-effects, like gastrointestinal disorders, nephrolithiasis, growth retardation, hyperlipidemia, and mineral and vitamin deficiency. In recent years, in an effort to improve the quality of life of patients on KDs, food companies have started to develop, and commercialize, several food products specific for such patients. This review summarizes the foods themselves, including sweeteners, and food products currently available for the ketogenic dietary treatment of neurological diseases. It describes the nutritional characteristics and gives indications for the use of the different products, taking into account their metabolic and health effects.

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/nu11051104Test

الإتاحة: https://doi.org/10.3390/nu11051104Test