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Articles of Volume : 6 Issue : 4, July, 2020 | |
| Agraphia: definition, clinical contexts, neurobiological profiles and clinical treatments | Author : Giulio Perrotta | Abstract | Full Text | Abstract :Starting from the general concept of Agraphia, the present work focuses on the clinical, neurobiological, and functional aspects of the morbid condition, suggesting a multidimensional treatment between physiotherapy, psychotherapy, and rehabilitation exercises for lost skills. |
| | Managing children with Medulloblastoma Algerian experience | Author : K.Ezziane | Abstract | Full Text | Abstract :A retrospective study was undertaken on 194 patients in pediatric age group with diagnosis of medulloblastoma, treated from 1994-2009 at our oncologic center. For all the patients, the diagnosis was made after surgery. All patients received adjuvant chemotherapy.
The combined modality of chemotherapy and radiotherapy results is satisfactory for locoregional control and survival and acceptable for toxicity in patients with medulloblastoma in pediatric age group. |
| | Cervical manipulation and cerebrovascular ischemia. A rare but dangerous association. Monocentric experience in a high CEA volume center and literature review. | Author : Andrea Ascoli Marchetti | Abstract | Full Text | Abstract :Background: A correlation between stroke and cervical manipulation in the neck is reported in the literature with increasing frequency, and each new publication seems to rekindle the debate. The manipulations in the cervical region is potentially dangerous for arterial vessels. The aim of this work is to analyze the incidence of these events in the experience of a center with high volume surgery, in which emergency interventions are performed for acute cerebrovascular Ischemia.
Methods: Data were collected regarding patients undergoing carotid endarterectomy surgery for neurological symptoms of cerebrovascular insufficiency over a seven-year period.
Results: The intervention was conducted urgently in 66 cases for acute symptoms (7.6%) with a median symptom interval / CEA: 39.4 ± 5.4 h) in 32 cases for hemispheric transient ischemic attack, while in 34 for minor stroke. Only in 1 case (1.5%) did a condition of severe spondyloarthrosis of the cervical spine occur in acute carotid plaque in C4-C5. In another case (1.5%) a cervical trauma caused by beatings is documented.
Conclusions: Manipulations of the neck and cervical spine can rarely cause or contribute to worsening neurological symptoms, however they should always be considered. |
| | Clinical - genetic characteristics of neuronal ceroid lipofuscinosis type 2. | Author : Khachatryan L.G | Abstract | Full Text | Abstract :The article is devoted to the issues of diagnosis and therapy of one of the most severe degenerative diseases in children - neuronal ceroid lipofuscinosis (NCL). This is a group of inherited neurodegenerative diseases related to lysosomal storage diseases characterized by regression of psychomotor development, resistant epileptic seizures, vision failure up to amaurosis. The morphological basis of NCL types is the accumulation of autofluorescence material in tissues (particularly in the brain), similar in structure to ceroids and lipofuscin, which are related to the “aging” and “wear-and-tear” pigments. To date, we know 14 variants of diseases associated with mutations in 13 genes (PPT1, TPP1, CLN3, CLN5, CLN6, MFSD8, CLN8, KPUR, DNAJC5, CTSF, ATP13A2, CTD7). [4,6,15]. The most common and deeply studied types of NCL are types 1,2,3. According to scientific data, neuronal ceroid lipofuscinosis is the most common neurodegenerative disease associated with epilepsy and an early fatal outcome. The article demonstrates a unique family case with this disease, reports a discussion of issues related to preclinical diagnosis through genetic verification and suggests a necessity for etiopathogenetic therapy. Here we present two children, from one family, a brother and sister. At the time of diagnosis the sister already had a complete clinical picture of the disease and was genetically verified as having NCL type 2. This fact enabled to identify the same disease in her younger brother at preclinical level and to begin his pathogenetic therapy in time. Currently, the treatment of these patients is conducted with the expensive preparation of Cerliponase - alpha (brineura), which is a purified human enzyme obtained through recombinant DNA technology. Brineura is a recombinant human tripeptidyl peptidase-1 (rhTPP1), the main function of which is the cleavage of the N-terminal tripeptides of a wide range of protein substrates. With the example of this family, the dynamics of clinical manifestations in a child with NCL has been demonstrated in detail, and the algorithm of the medical action aimed at leveling off the serious neurological deficit has been shown. |
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