scholarly journals A partial ARID1B deletion in a female child with intractable epilepsy

2021 ◽  
Vol 13 (1) ◽  
pp. 45-50
Author(s):  
Tatsuo Mori ◽  
Aya Goji ◽  
Yoshihiro Toda ◽  
Hiromichi Ito ◽  
Toshitaka Kawarai ◽  
...  
Keyword(s):  
Intractable Epilepsy ◽  
Female Child

SECONDARY EPILEPTIC FOCI IN CHILDREN WITH INTRACTABLE EPILEPSY SECONDARY TO CORTICAL DYSPLASIAS

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
E Galicia ◽  
O Hiroshi ◽  
M Ismail ◽  
R Sakuta ◽  
A Ochi ◽  
...  
Keyword(s):  
Intractable Epilepsy ◽  
Cortical Dysplasias

Implanted vagus nerve stimulation in 126 patients: surgical technique and complications

2020 ◽  
Vol 99 (7) ◽  
Keyword(s):  
Vagus Nerve ◽  
Vocal Cord ◽  
Nerve Stimulation ◽  
Vagus Nerve Stimulation ◽  
Pulse Generator ◽  
Operative Procedure ◽  
Intractable Epilepsy ◽  
Vagal Nerve ◽  
University Hospital ◽  
Nerve Stimulator

Introduction: Vagus nerve stimulation is a palliative treatment for patients with refractory epilepsy to reduce the frequency and intensity of seizures. A bipolar helical electrode is placed around the left vagus nerve at the cervical level and is connected to the pulse generator placed in a subcutaneous pocket, most commonly in the subclavian region. Methods: Between March 1998 and October 2019, we performed 196 procedures related to the vagal nerve stimulation at the Neurosurgery Department in Motol University Hospital. Of these, 126 patients were vagal nerve stimulator implantation surgeries for intractable epilepsy. The cases included 69 female and 57 male patients with mean age at the time of the implantation surgery 22±12.4 years (range 2.1−58.4 years). Results: Nine patients (7.1%) were afflicted by complications related to implantation. Surgical complications included postoperative infection in 1.6%, VNS-associated arrhythmias in 1.6%, jugular vein bleeding in 0.8% and vocal cord paresis in 2.4%. One patient with vocal cord palsy also suffered from severe dysphagia. One patient (0.8%) did not tolerate extra stimulation with magnet due to a prolonged spasm in his throat. The extra added benefit of vagus stimulation in one patient was a significant reduction of previously regular severe headaches. Conclusion: Vagus nerve stimulation is an appropriate treatment for patients with drug-resistant epilepsy who are not candidates for focal resective surgery. Implantation of the vagus nerve stimulator is a relatively safe operative procedure.

Laron syndrome – A case Report

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Genetic Disorder ◽  
Female Child ◽  
Receptor Signaling ◽  
Laron Syndrome ◽  
Rare Genetic Disorder ◽  
Igf I

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  

Measurement of the Cellular Hemoglobin Concentration by Laser Scatter Method from Excessive Lipemic Sample: CASE REPORT

2019 ◽  
Vol 22 (7) ◽  
pp. 502-505
Author(s):  
Ataman Gönel ◽  
Ismail Koyuncu
Keyword(s):  
Venous Blood ◽  
Hemoglobin Concentration ◽  
Female Child ◽  
Acute Tonsillitis ◽  
Scatter Method ◽  
Normal Limits ◽  
Pediatric Clinic ◽  
Automated Hematology Analyzer ◽  
Familial Hyperlipidemia ◽  
Sample Case

A 33-month old female child presented at a pediatric clinic with acute tonsillitis, and it was subsequently discovered that she had familial hyperlipidemia. Measurement of the patient’s whole blood tests was performed by a multiparameter automated hematology analyzer, the CELLDYN Ruby System® (Abbott, Lake Forest, USA) using venous blood extracted from a tube containing 3.0 mL of EDTA. Although her hematocrit levels were within normal limits, the hemoglobin (Hgb) level, mean corpuscular volume (MCH) and mean corpuscular Hgb concentration (MCHC) could not be determined using the spectrophotometric method. The results of these tests could not be measured when repeated using dilution. When the sample was left to rest for several minutes, it was observed to be excessively lipemic. The measurements were repeated using the Alinity HQ Analyzer® (Abbott), which determines Hgb concentration using laser scatter and spectrophotometry. Hgb cellular concentration was incorrectly measured as being 21.9 mg/dL using routine spectrophotometry (denoted by a flag indicating Hgb interference) and correctly found to be 10.8 mg/dL. Thus, in samples of excessive lipemia, Hgb, MCH, and MCHC levels cannot be measured accurately using spectrophotometry. Hematology analyzers that can measure cellular hemoglobin (cHGB) and average erythrocyte hemoglobin concentration (cHCM) by laser scatter method may be recommended when analyzing a blood sample that contains excessive lipemia.

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