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Intractable patients

George M Ibrahim, Alexander G Weil, Shaina Sedighim, Nathan B Schoen, Mirriam Mikhail, Priya Sharma, Magno R Guillen, Benjamin R Morgan, Simeon Wong, Iahn Cajigas, Walter J Jermakowicz, Carolina Sandoval-Garcia, Evan C Lewis, Aria Fallah, Nolan Altman, Santiago Medina, Esperanza Pacheco-Jacome, Prasanna Jayakar, Ann Hyslop, Ian Miller, John Ragheb, Sanjiv Bhatia, Byron Bernal
PURPOSE: Magnetic Resonance-guided Laser Interstitial Thermal Therapy (MRgLITT) is an emerging minimally-invasive alternative to resective surgery for medically-intractable epilepsy. The precise lesioning effect produced by MRgLITT supplies opportunities to glean insights into epileptogenic regions and their interactions with functional brain networks. In this exploratory analysis, we sought to characterize associations between MRgLITT ablation zones and large-scale brain networks that portended seizure outcome using resting-state fMRI...
August 9, 2018: Seizure: the Journal of the British Epilepsy Association
Sadahiro Nomura, Hiroyuki Kida, Yuya Hirayama, Hirochika Imoto, Takao Inoue, Hiroshi Moriyama, Dai Mitsushima, Michiyasu Suzuki
This study aimed to understand the mechanism by which brain cooling terminates epileptic discharge. Cortical slices were prepared from rat brains (n = 19) and samples from patients with intractable epilepsy that had undergone temporal lobectomy (n = 7). We performed whole cell current clamp recordings at approximately physiological brain temperature (35℃) and at cooler temperatures (25℃ and 15℃). The firing threshold in human neurons was lower at 25℃ (-32.6 mV) than at 35℃ (-27.0 mV). The resting potential and spike frequency were similar at 25℃ and 35℃...
August 17, 2018: Journal of Cerebral Blood Flow and Metabolism
Bobby G Ng, Hunter R Underhill, Lars Palm, Per Bengtson, Jean-Michel Rozet, Sylvie Gerber, Arnold Munnich, Xavier Zanlonghi, Cathy A Stevens, Martin Kircher, Deborah A Nickerson, Kati J Buckingham, Kevin D Josephson, Jay Shendure, Michael J Bamshad, Hudson H Freeze, Erik A Eklund
Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutations. Most patients have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death...
August 17, 2018: JIMD Reports
Chao Zhang, Hongyu Yang, Chang Liu, Guojun Zhang, Nan Chen, Kuncheng Li
The aims of this study were to investigate the brain network connectivity alterations of intractable unilateral mesial temporal lobe epilepsy (MTLE) with cognitive dysfunction before and after anterior temporal lobectomy (ATL) using resting-state functional magnetic resonance imaging (rs-fMRI) study and to further observe the correlation between the brain network connectivity with cognitive performance. Fourteen patients with unilateral left MTLE before and after ATL were compared with thirty healthy controls (HCs) on functional connectivity (FC) between resting-state networks (RSNs)...
August 13, 2018: Epilepsy & Behavior: E&B
Guoqing Tan, Feng Li, Dongsheng Zhou, Xia Cai, Yijiang Huang, Fanxiao Liu
BACKGROUND: Unilateral and bilateral percutaneous balloon kyphoplasty (PKP) are 2 main approaches for the treatment of patients with osteoporotic vertebral compression fractures (OVCFs). Numerous published systematic reviews and meta-analyses evaluating the effectiveness of 2 approaches remain inconclusive. In order to propose a significant principle to make decisions for comparing clinical safety and efficacy of unilateral versus bilateral PKP for treating OVCFs patients based on the currently best available evidence, a systematic review of overlapping meta-analysis was conducted...
August 2018: Medicine (Baltimore)
Yanfeng Xu, Shujing Yu, Li Zhang, Jing Zheng, Yuefeng Chen, Yanxu Che
Application value of iterative reconstruction with computed tomographic angiography (CTA) in the patients with intractable headache was investigated. One hundred and eighty patients with headache, who were admitted and treated in Cangzhou Central Hospital, were selected to undergo CTA scan. The patients were divided into group A, B and C according to different scanning conditions and data reconstruction techniques. In group A, the scanning parameters were 120 kV and 300 mA, and filtered back projection (FBP) algorithm was used for data reconstruction...
August 2018: Experimental and Therapeutic Medicine
Nishkarsh Gupta, Sidharth Puri, Vinod Kumar, Rakesh Garg, Sachidanand Jee Bharati, Seema Mishra, Sushma Bhatnagar
The patients often present to palliative care with intractable nausea and vomiting. This may reduce the effectiveness of oral drugs and significantly affects the quality of life of these patients. Despite multiple drugs available for treatment, it is often difficult to control the symptoms. Olanzapine is an atypical antipsychotic and acts on multiple receptors and may help in treating vomiting in a patient with advanced malignancy. We report a case of gallbladder carcinoma who presented to us with intractable vomiting which was not relieved with a combination of traditional antiemetics but showed marked improvement with olanzapine...
July 2018: Indian Journal of Palliative Care
Zhi-Jie Gao, Qian Jiang, Qian Chen, Jing-Min Wang, Hong Pan
Supernumerary marker chromosome 15 is a rare chromosome abnormality. This paper reports the clinical diagnosis and treatment, as well as genetic defects, of a child with supernumerary marker chromosome 15. The patient was a 9.5-year-old girl who had mental and motor retardation since infancy, breast development at the age of 7 years, and seizures at the age of 8.5 years. Seizures occurred with various features and could not be controlled by a variety of antiepileptic drugs. No abnormalities were found by brain magnetic resonance imaging...
August 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Yuto Suzuki, Rei Enatsu, Aya Kanno, Satoko Ochi, Nobuhiro Mikuni
OBJECTIVE: This study investigated the function and networks of the auditory cortices in the posterior lateral superior temporal area (PLST) using a combination of electrical cortical stimulation and diffusion tensor imaging (DTI). METHODS: Seven patients with intractable focal epilepsy in which the PLST auditory cortices were identified during the electrical cortical stimulation were enrolled in this study (left side: four patients, right side: three patients)...
August 1, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Maina P Kava, Annie Robertson, Lawrence Greed, Shanti Balasubramaniam
Nonketotic hyperglycinemia (NKH) is a devastating inborn error of glycine metabolism caused by deficient activity of the glycine cleavage enzyme. Classically, patients present with lethargy, hypotonia, myoclonic jerks, transient respiratory depression in the first week of life and often progress to death. Surviving infants have profound psychomotor retardation, refractory epilepsy and poor quality of life. Currently, no effective therapeutic avenues exist for severe NKH. Ketogenic diet (KD) has been trialled only in a small group of patients with neonatal NKH and early myoclonic encephalopathy, in whom significant improvements in seizure control were reported...
August 14, 2018: European Journal of Clinical Nutrition
Fiorella Magani, Eric R Bray, Maria J Martinez, Ning Zhao, Valeria A Copello, Laine Heidman, Stephanie O Peacock, David J Wiley, Gennaro D'Urso, Kerry L Burnstein
Identifying critical pathways governing disease progression is essential for accurate prognosis and effective therapy. We developed a broadly applicable and novel systems-level gene discovery strategy. This approach focused on constitutively active androgen receptor (AR) splice variant-driven pathways as representative of an intractable mechanism of prostate cancer (PC) therapeutic resistance. We performed a meta-analysis of human prostate samples using weighted gene co-expression network analysis combined with experimental AR variant transcriptome analyses...
August 14, 2018: Molecular Systems Biology
Yanfeng Yang, Haixiang Wang, Wenjing Zhou, Tianyi Qian, Wei Sun, Guoguang Zhao
BACKGROUND: Seizures arising from the precuneus are rare, and few studies have aimed at characterizing the clinical presentation of such seizures within the anatomic context of the frontoparietal circuits. We aimed to characterize the electrophysiological properties and clinical features of seizures arising from the precuneus based on data from stereoelectroencephalography (SEEG). METHODS: The present retrospective study included 10 patients with medically intractable epilepsy, all of whom were diagnosed with precuneal epilepsy via stereoelectroencephalography (SEEG) at Yuquan Hospital and Xuan Wu Hospital between 2014 and 2016...
August 13, 2018: BMC Neurology
Yasuaki Okuda, Toshiyuki Yamada, Mitsuharu Ueda, Yukio Ando
Objective To clarify the underlying diseases, clinical manifestations, and treatment strategies for AA amyloidosis (AAA) in Japanese patients. Methods We conducted a survey on Japanese patients with AAA treated between January 1, 2012, and December 31, 2014. Results A total of 199 patients with AAA were included in the present study. The underlying diseases of AAA were rheumatoid arthritis (60.3%), uncharacterized inflammatory disorders (11.1%), neoplasms (7.0%), other rheumatic diseases (6.5%), inflammatory bowel diseases (4...
August 10, 2018: Internal Medicine
Danielle Fasciano, Shi Wei, Rong Li, Gene P Siegal
Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by craniofacial deformities and heterogeneous cardiac and cutaneous manifestations. The condition is caused by de novo activating mutations in one of four genes encoding proteins involved in the RAS-MAPK signaling pathway; specifically BRAF, MEK1, MEK2, or KRAS. Variable malignancies have been reported in patients with CFCS. Herein we report a chondroblastoma-like lesion of the skull in a 20-year-old man with a clinical diagnosis of CFCS and a long-standing history of medically intractable epilepsy...
August 7, 2018: Pathology, Research and Practice
Ronen Hady-Cohen, Hila Ben-Pazi, Vardit Adir, Keren Yosovich, Luba Blumkin, Tally Lerman-Sagie, Dorit Lev
In 2003, a new syndrome was described in the Sephardi Jewish population, named progressive cerebello-cerebral atrophy (PCCA) based on the typical neuroradiological findings. Following the identification of the causal genes in 2010 and 2014, two types were defined: PCCA type 1 due to SEPSECS mutations and PCCA type 2 due to VPS53 mutations. Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) was described in 1991 in Finland. The clinical and radiological phenotype resembles PCCA. The genetic background has been elusive for many years...
July 26, 2018: European Journal of Paediatric Neurology: EJPN
Jocelyn Lu, Michael V DeFazio, Chrisovalantis Lakhiani, Michel Abboud, Morgan Penzler, Tammer Elmarsafi, Paul J Kim, Christopher E Attinger, Karen K Evans
BACKGROUND:  Recent evidence documenting high success rates following microvascular diabetic foot reconstruction has led to a paradigm shift in favor of more aggressive limb preservation. The primary aim of this study was to examine reconstructive and functional outcomes in patients who underwent free tissue transfer (FTT) for recalcitrant diabetic foot ulcers (DFUs) at our tertiary referral center for advanced limb salvage. METHODS:  Between June 2013 and June 2016, 29 patients underwent lower extremity FTT for diabetic foot reconstruction by the senior author (K...
August 12, 2018: Journal of Reconstructive Microsurgery
Deniz Doruk Camsari, Melissa Kirkovski, Paul E Croarkin
Although the application of noninvasive brain stimulation methods to children and adolescents has been frequently studied in depression, autism spectrum disorder, attention-deficit/hyperactivity disorder, and other neuropsychiatric disorders, invasive methods such as deep brain stimulation (DBS) and vagal nerve stimulation (VNS) have received less attention. DBS and VNS have demonstrated utility in young patients especially for dystonia and epilepsy. VNS has FDA clearance for intractable epilepsy in patients aged 4 years and older...
September 2018: Psychiatric Clinics of North America
Sasha Strul, Penny Straughn
There is currently no well-defined guideline for treatment and management of patients with keratitis-ichthyosis-deafness (KID) syndrome, and most patients will face disabling vision loss due to corneal neovascularization and cicatrization. We offer this case as an example of how we can improve visual acuity (VA) and quality of life even in advanced cases of corneal neovascularization. We showcase the use of gas-permeable (GP) contact lenses to provide useful, functional VA in a patient with long-standing visual impairment secondary to corneal neovascularization and irregularity due to KID syndrome...
August 7, 2018: Eye & Contact Lens
Jun T Park, Guadalupe Fernandez Baca Vaca, Rachel Tangen, Jonathan Miller
Resection of the hippocampus ipsilateral to the verbal memory-dominant hemisphere frequently results in severe memory deficits. In adults with epilepsy, multiple hippocampal transections (MHTs) have resulted in excellent seizure outcome with preservation of verbal memory. The authors report the first detailed case of a child undergoing MHTs for mesial temporal lobe epilepsy. A 13-year-old right-handed boy had intractable seizures characterized by epigastric discomfort evolving to unresponsiveness and chewing automatisms, lasting 1 minute and occurring 2-3 times weekly, sometimes ending in a generalized tonic-clonic seizure...
August 10, 2018: Journal of Neurosurgery. Pediatrics
Karel Decaestecker, Benjamin Van Parys, Jeroen Van Besien, Nicolas Doumerc, Liesbeth Desender, Caren Randon, Frederic De Ryck, Thomas Tailly, Matthias Beysens, Carl Van Haute, Diederik Ponette, Kathia De Man, Piet Hoebeke, Frank Vermassen
BACKGROUND: Kidney autotransplantation (KAT) is the ultimate way to salvage kidneys with complex renovascular, ureteral, or malignant pathologies that are not amenable to in situ reconstruction. A minimally invasive approach could broaden its adoption. OBJECTIVE: To describe operative technique, perioperative complications, and early functional outcomes of robot-assisted kidney autotransplantation (RAKAT). DESIGN, SETTING, AND PARTICIPANTS: Retrospective review of prospectively collected data regarding consecutive patients undergoing RAKAT between March 2017 and February 2018 at two university hospitals...
August 6, 2018: European Urology Focus
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