Neurology India最新文献

Background: Hereditary Neuralgic Amyotrophy (HNA) is an autosomal dominant disorder characterized by episodes of severe pain and amyotrophy affecting the brachial plexus as well as other sites. Mutations in the SEPTIN9 gene have been identified as genetic abnormality for HNA. Although the genetic mutations are known, their pathogenesis for the causation of this disorder is not exactly elucidated.

Objective: In this study, we have investigated the phenotypic and genetic features in a large pedigree with HNA.

Methods: We report the clinical spectrum and genetic analysis of a family with 9 affected members. Clinical heterogeneity has been reported in the individuals having mutations in SEPTIN9 gene. After taking informed consent, we have done genetic analysis of 6 affected and 4 unaffected members of the family to identify the molecular abnormalities of SEPTIN9 gene.

Results and conclusions: Genetic analysis has identified the presence of NM_001113491.2:p.Arg106Trp mutation in SEPTIN9 gene. The same mutation has been identified in 6 affected members of the family. Molecular simulation study has revealed that the mutation has significantly altered the conformation of septin-9 protein, thereby impairing the microtubule binding and bundling ability. Although the affected members shared a common recurrent mutation, they have a wide spectrum of clinical variability. This may be due to the variable penetrance of the mutation and different epigenetic influences in the family. This is the first genetically confirmed case series of HNA reported from India.

Background: Lumbar internal fixation and fusion can be subject to failure requiring revision surgery. Endoscopic revision surgery with minimal invasiveness may be a helpful therapeutic intervention in the management of certain fusion-related complications. According to the author's knowledge, there are few references to this technique in English literature.

Objective: This study aimed to investigate the efficacy of endoscope-assisted revision surgery in patients with recurrent radiculopathy after lumbar fusion surgery, discuss the necessity of revision surgery, and review the relevant literature.

Material and methods: We report a case series and review relevant literature. Information was gathered from the electronic medical record in our hospital. A total of 231 patients who underwent endoscopic spine procedures from January 2021 to October 2022 were reviewed. Three patients who underwent endoscopic decompressive procedures after lumbar fusion surgeries at a correspondence segment were identified, and the clinical courses and radiological findings of these patients were retrospectively reviewed.

Results: The average interval from initial to revision surgery was 30.74 (range 10.50-48.00) months. The patients include one man and two women with an average age of 75.67 (range 68-81) years at the initial operation. Three patients developed symptoms of recurrent myelopathy after their initial surgery due to canal stenosis in the fusion segment and hyperostosis. All patients experienced symptom relief after revision surgery. At a mean follow-up time of 0.96 months, endoscopic decompression resulted in the average numerical rating scale (NRS) score for lower limb pain on the symptomatic side being reduced by 2.67. Patients rated their leg pain on average as 4.5 ± 0.5.

Conclusions: Endoscope-assisted revision surgery after lumbar fusion with pedicle screw fixation is a promising therapeutic strategy in treating recurrent radiculopathy. Spinal stenosis and hyperostosis are two of the most significant reasons for revision surgery. Resection of intraspinal lesions and endoscopic foraminal decompression appear to have promising outcomes. Certain fusion-related complications may be effectively treated with endoscope-assisted revision surgery. Further research should be conducted to investigate the clinical efficacy of revision surgery.

Neuralgic amyotrophy (NA) is a syndrome of abrupt onset severe pain in the shoulder usually on one side, followed by rapidly progressive weakness and wasting in the upper limb in asymmetric, patchy distribution due to multifocal neuropathy of brachial plexus. Atypical forms may present with involvement of other peripheral nerves including lumbosacral plexus, intercostal and phrenic nerves, and less frequently cranial nerves (CN) which can also be involved.[1] Here we presenting a case of atypical NA affecting bilateral upper limbs with CN involvement in a known patient of celiac disease.

Background: Brain protection and cosmetic aspects are the major indications of cranioplasty (CP) after decompressive craniectomy. CP can avoid the recurrence of brain damage, achieve the plastic effect, protect the patient from seizures, and relieve the syndrome of trephine.

Materials and methods: This was a prospective, observational study done over a period of 2 years from April 2017 to April 2019 in the Department of Neurosurgery at Sri Venkateswara Institute of Medical Sciences (SVIMS), Tirupati. Patients of age group 20-60 years who underwent CP after decompressive craniectomy for traumatic brain injury or cerebrovascular accidents with refractory intracranial hypertension were included. The study population was divided into two groups: early and late CP groups. Neurocognitive assessment was done 72 h before and 3 months after CP by mini-mental state examination (MMSE), Glasgow outcome score (GOS), and PGI battery of brain dysfunction (PGIBBD) scores. Cerebral glucose metabolism was assessed by 18F-FDG PET scan.

Results: In both early and late CP groups, there was a highly significant difference between the mean pre- and postoperative values of MMSE, GOS, and PGIBBD, suggesting significant improvement in neurocognitive parameters of patients postoperatively. There was no significant difference between early and late CP groups for mean standard uptake values (SUVs) on PET scan for both affected (P-value- 0.40) and nonaffected (P-value- 0.30) sides.

Conclusion: CP improves the cerebral metabolism and neurocognitive outcome, weather it is done early or late.

A 30-year-old man patient presented with the progressive weakness and pain in the back, arms and legs, sensory loss, facial weakness, diplopia, difficulty of speech and swallowing since 4 months. MRI revealed syringomyelia and syringocephaly involving medulla (syringobulbia), pons (syringopontia) and midbrain (syringomesencephaly) with intrasyringeal hemorrhage.

Healthcare in India is primarily divided into two systems. On one hand, there are academic institutes administered by hospitals, which are aided by central and state governments/charitable trusts and cater primarily to the disadvantaged. On the other hand, there is private practice (either in an individual capacity or in a corporate setting). One of the most difficult decisions that a residency graduate or fellow in India must make concerns where and how to start one's career - in academics or in private practice. Both have their pros and cons, which are discussed here.

The global increase in the number of Alzheimer's disease (AD) patients has posed numerous treatment challenges. Six Food and Drug Administration-approved medications (e.g., donepezil and memantine) have demonstrated some efficacy but are primarily used to alleviate symptoms. The etiology of AD is unknown, and the blood-brain barrier restricts drug penetration, which severely restricts the use of various therapeutic agents. With their high targeting, long-lasting effect, and multifunctionality, inorganic nanomaterials provide a novel approach to the treatment of AD. A review of inorganic nanoparticles in the diagnosis and therapy of AD. This paper reviews the research literature on the use of inorganic nanomaterials in the treatment of AD. Gold nanoparticles, superparamagnetic iron oxide nanoparticles, magnetic nanoparticles, carbon nanotubes, and quantum dots are among the inorganic nanomaterials studied. As knowledge of the origins of AD remains limited, the majority of studies on inorganic nanomaterials have primarily focused on interventions on Aβ proteins. Adjusting and enhancing the properties of these inorganic nanomaterials, such as core-shell structure design and surface modification, confer benefits for the treatment of AD. Inorganic nanoparticles have a wide spectrum of therapeutic potential for AD. Despite their potential benefits, however, the safety and translation of inorganic nanomaterials into clinical applications remain formidable obstacles.