Volume 1 Issue 1

Research Article: The Methylenetetrahydrofolate Reductase and Polymorphism C677T in the Children with Headache

Elisabetta Tozzi*, Alessandra Piccorossi, Cristina Gammella, Agnese Onofri, Alberto Verrotti and Enzo Sechi

Background: The headaches are a heterogeneous clinical manifestations characterized not only by pain but also by a severe multifactorial disabilities, often associated with other comorbidities that severely affects the patient's quality of life. And 'it is known for some time the risk of cerebrovascular disease in migraine patients. Numerous studies showed the association between the enzyme MTHFR mutations , the T allele and genotype TTand migraine, particularly migraine with aura.
Aim of the study: On the basis of theliterature data we propose to evaluate the prevalence of the MTHFR mutation in the population of patients admitted to a headache center of the childhood.
Materials and methods: Weexamined 226 children, aged 5-17 years,admitted to "Headache Center" of Children Neuropsychiatry of Hospital San Salvatore L'Aquila, from 2013 to the year 2015. The diagnosis of headache are made according toICHD III criteria. The identification of the MTHFR C677T polymorphism of the enzyme was carried out by the Real-time PCR qualitative. The statistical analysis by SAS System.
Results: Diagnosis of migraine without aura in 96 patients, migraine with aura in 39, in 18 chronic migraine, Frequent episodic tension-type headache in 40, chronic tension type headache in 20 and in 13 other headaches. 61 patients are without mutation, 85 with heterozygous mutation, and 28 homozygous. Therefore, the mutation is present in 147 patients with a percentage of 65%. The heterozygous mutation is present in 50.56% of females and 47.06% males; the homozygous in 10.19% and 12.94% in females than males. In migraineurs the mutation is present in 66.67% compared with patients with tension-type headache (33.33%), homozygous is the 70.37% versus 29.63% (p <0.001). Homocysteine ??levels are elevated only nell'8.69% of mutated patients, of which 5/12 patients have a mutation in homozygosity.
Conclusions: We confirme the statistical association between MTHFR mutationboth in the heterozygous and homozygous forms and migraines.The migraines with aura, unlike the literature, does not seem to have a important role. Also the homocysteine not seems statistically affect the trends of the forms of headaches examined.

Cite this Article: Tozzi E, Piccorossi A, Gammella C, Onofri A, Verrotti A, et al. The Methylenetetrahydrofolate Reductase (Mthfr) Gene Polymorphism C677t and the Migraine: Evaluation of a Children Sample. Int J Neurol Dis. 2017;1(1): 028-032.

Published: 07 September 2017

Review Article: Surgical tips for Neurofibromatosis: Synopsis of Surgery with Technology

Selma Sonmez Ergun*, Halil Ibrahim Canter, Kemalettin Yildiz

Background: Plexiform neurofibromas of the head and neck region inneurofibromatosis-1 (NF-1) presentwith varying degrees of disfigurement according to the extent andlocation of the tumor due to its growing continously.
Objective: Plexiform neurofibromas of the head and neck in NF-1 carry a significant morbidity with substantial loss of function as well assignificant cosmetic problems. We describe our experience with early aggressivesurgical intervention in such patients in order to avert these problems.
Methods: Retrospective review offive consecutive patients with head and neck plexiform neurofibromas who underwent single stage near total or subtotaltumor resections.
Results: One patient had local flap necrosis, which was covering the implant. Therefore free tissue transfer needed to be done. Otherwise, there were just two minor complications and no major complications in rest of the operated patients. There have been no recurrences up to date, withfollow-up ranging from 15 months to 5 years.
Conclusions: Early surgical intervention of NF-1 patients with plexiform neurofibromasof the head and neck with a goal of near total resection avoids the loss of functionassociated with these tumors, such as tracheostomy dependence, swallowing difficulty,and speech problems, and prevents the inexorable progression of substantialcosmetic deformity. Successful management of these complex lesions requiresdetailed preoperative planning, advanced surgical techniques, and vigilant postoperativecare. Custom-made CAD/CAM implants makes the skelotal reconstruction easier and more symmetrical.

Cite this Article: Ergun SS, Canter HI, Yildiz K. SURGICAL TIPS for NEUROFIBROMATOSIS: Synopsis of Surgery with Technology. Int J Neurol Dis. 2017;1(1): 018-027.

Published: 29 August 2017

Research Article: Unmasking Intracranial Atherosclerotic Disease: Experience from an Outpatient Neurosonology Lab

Anzola Gian Paolo*, Bartolaminelli Clara

Background and Purpose: Intracranial Atherosclerotic Disease (ICAD) is a malignant affection which carries a high risk of first or recurrent stroke if unnoticed, but the consequences of which may be drastically improved by early appropriate medical treatment. Early diagnosis is therefore advisable. We analyzed the 12-year database of consecutive patients studied in a single neurosonology lab to assess ICAD prevalence and predictors
Material and Methods: From 18702 examinations we extracted 622 records of patients (M/F ratio 337/ 285, age 61 + 16), who had undergone a complete extra and intracranial assessment with ultrasound. By using a computer based program we recorded all variables in a standardized manner.
Results: ICAD was detected in 62 (M/F = 36/ 26) patients (9.9%), in 45 (7.2%) in the anterior circulation only , in 13 (2.1%) in the posterior circulation only, in 4 (0.6%) in both anterior and posterior circulations. Independent predictors were hypertension, extracranial carotid disease and family history for stroke.
Conclusion: Unmasking ICAD is feasible with TCCD. The likelihood of a positive result increases from one every 10-20 examination to one every 1-4 if hypertension, carotid disease and family history of stroke are present in isolation and more so if they are associated.

Cite this Article: Anzola GP, Bartolaminelli C. Unmasking Intracranial Atherosclerotic Disease: Experience from an Outpatient Neurosonology Lab. Int J Neurol Dis. 2017;1(1): 013-017.

Published: 18 May 2017

Review Article: Samson Wright, the Man and his Research

John Russell Silver*

Samson Wright (1899-1956) was better known for his international reputation as a teacher of physiology rather than for his experimental work. This article explores Wright's experimental work on the role of acetylcholine transmission in the Central Nervous System (CNS). A biographical appendix is included of Samson Wright and his co-experimentalists.

Cite this Article: Silver JR. Samson Wright, the Man and his Research. Int J Neurol Dis. 2017;1(1): 006-012.

Published: 18 May 2017

Case Report: Medication Treatment in an Adolescent Female with FOXP1 Mutation

Samantha Cohen, Reymundo Lozano*, Alex Kolevzon and Randi J. Hagerman

FOXP1 mutations/deletions are associated with Intellectual Disability (ID), language impairment, dysmorphic facial features and behavior problems. FOXP1 mutations/deletions have also been associated with Autism Spectrum Disorder (ASD). Medications are frequently used to help manage behavioral symptoms such as irritability in patients with idiopathic ASD. As the FOXP1 phenotype continues to be characterized, it is important to document and evaluate psychopharmacological treatments that may help to manage the behavioral symptoms in patients affected by this mutation/deletion. This case report describes the medication management of a 15 years old female with an FOXP1 mutation, ASD, Intellectual Disability (ID), Attention-Deficit/Hyperactivity Disorder (ADHD), obsessive-compulsive behavior, mild anxiety, and expressive language delays. Her medications included methylphenidate ER for ADHD management, aripiprazole for mood stabilization and aggressive behaviors, clomipramine for obsessive-compulsive behaviors, and sertraline for anxiety and an attempt to boost language are described.

Cite this Article: Cohen S, Lozano R, Kolevzon A, Hagerman RJ. Medication Treatment in an Adolescent Female with FOXP1 Mutation. Int J Neurol Dis. 2017;1(1): 001-005.

Published: 28 February 2017

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