ABSTRACT
OBJECTIVE: The renal excretion function of patients with chronic kidney disease (CKD) is reduced, and the nervous system toxic reactions of antibiotics are prone to occur. The purpose of this study is to screen out some risk factors for patients with CKD to suffer from antibiotic-associated encephalopathy (AAE). DESIGN: A case-control study. SETTING: A tertiary hospital in China. PARTICIPANTS: The medical records of patients who were hospitalised for CKD and infectious diseases in our hospital from January 2010 to December 2019. All patients used antibiotics to treat infectious diseases during hospitalisation. All patients were divided into two groups according to whether they developed AAE during hospitalisation. The patients with CKD without AAE were selected as the control group (n=120), and the patients with CKD with AAE were regarded as the AAE group (n=102). INTERVENTIONS: This study systematically analysed its clinical manifestations, laboratory examinations, prognosis, etc, and summarised the risk factors related to AAE in patients with CKD. PRIMARY OUTCOME: Screening risk factors of AAE in patients with CKD. RESULTS: Logistic regression analysis showed that coronary heart disease, as well as abnormal indicators of haemoglobin, albumin, uric acid and blood phosphorus were independent risk factors for patients with CKD with AAE (OR values were 4.137, 0.963, 0.849, 0.996 0.161, respectively, all p<0.05). The case fatality rate (Pearson χ2=7.524, p=0.006), rehospitalisation rate (Pearson χ2=6.187, p=0.013) and treatment costs (t=-8.44, p<0.001) in encephalopathy group are significantly higher than the control group. CONCLUSIONS: Patients with CKD with AAE will increase the case fatality rate and cause poor prognosis. Coronary heart disease, as well as decreased levels of haemoglobin, albumin, uric acid, and blood phosphorus are independent risk factors for patients with CKD with AAE. Timely intervention of these risk factors may reduce the incidence of AAE and improve the prognosis.
Subject(s)
Brain Diseases , Renal Insufficiency, Chronic , Humans , Retrospective Studies , Uric Acid , Case-Control Studies , Anti-Bacterial Agents/adverse effects , Renal Insufficiency, Chronic/epidemiology , Risk Factors , Albumins , Phosphorus , Brain Diseases/chemically induced , Brain Diseases/complicationsABSTRACT
OBJECTIVES: Biallelic mutations in the SLC25A19 gene impair the function of the thiamine mitochondrial carrier, leading to two distinct clinical phenotypes. Homozygosity for the c.530G > C mutation is invariably associated to Amish lethal microcephaly. The second phenotype, reported only in 8 patients homozygous for different non-Amish mutations (c.373G > A, c.580T > C, c.910G > A, c.869T > A, c.576G > C), is characterized by bilateral striatal necrosis and peripheral polyneuropathy. We report a new patient with the non-Amish SLC25A19 phenotype showing compound heterozygosity for the new variant c.673G > A and the known mutation c.373G > A. CASE PRESENTATION: The natural history of non-Amish SLC25A19 deficiency is characterized by acute episodes of fever-induced encephalopathy accompanied by isolated lactic acidosis and Leigh-like features at magnetic resonance imaging (MRI). Acute episodes are prevented by high-dose thiamine treatment (600 mg/day). As shown in the new case, both mild clinical signs and basal ganglia involvement can precede the acute encephalopathic onset of the disease, potentially allowing treatment anticipation and prevention of acute brain damage. Peripheral axonal neuropathy, observed in 7 out of 9 patients, is not improved by thiamine therapy. In two early treated patients, however, peripheral neuropathy did not occur even on long-term follow-up, suggesting a potential preventive role of treatment anticipation also at the peripheral level. CONCLUSIONS: Non-Amish SLC25A19 deficiency is an extra-rare cause of Leigh syndrome responsive to thiamine treatment. Ex adiuvantibus thiamine treatment is mandatory in any patient with Leigh-like features.
Subject(s)
Brain Diseases/pathology , Corpus Striatum/pathology , Mitochondrial Membrane Transport Proteins/deficiency , Mutation , Necrosis , Phenotype , Polyneuropathies/pathology , Brain Diseases/complications , Humans , Infant , Male , Mitochondrial Membrane Transport Proteins/genetics , Polyneuropathies/complications , PrognosisABSTRACT
Importance: Despite improvements in antenatal care and increasing cesarean delivery rates, birth asphyxia leading to neonatal encephalopathy (NE) continues to contribute to neonatal death and long-term neurodevelopmental disability. Cardiotocography (CTG) has been used in labor for several decades to detect a stressed fetus so that delivery can be expedited and NE avoided. Objective: To investigate whether experienced clinicians can detect and respond to abnormal readings from CTGs during the penultimate hour before birth in infants with moderate to severe NE but no acute peripartum event. Design, Setting, and Participants: This case-control study included 10 practicing obstetricians and midwives at maternity hospitals in New Zealand. Participants, who were masked to the perinatal outcome, were asked to assess CTG tracings from 35 neonates with NE and evidence of birth hypoxia (ie, cases) and 105 neonates without NE or birth hypoxia (ie, controls), all of whom were born in 2010 to 2011. Data analysis was conducted from May to December 2017. Exposures: Brief clinical details and 1 hour of CTG tracings from the penultimate hour before birth were provided for each baby. Clinicians assessed the CTG tracings and recommended a plan. Main Outcomes and Measures: Intra-assessor and interassessor agreement on CTG findings and action plans as well as sensitivity (ie, detection of NE) and specificity (ie, ruling out those without NE) for the assessment of abnormal CTG readings leading to immediate action (ie, fetal blood sample or immediate delivery) were reported. Results: A total of 35 infants (mean [SD] gestational age, 40 [1.4] weeks; 16 [45.7%] cesarean deliveries) were designated cases, and 105 infants (mean [SD] gestational age, 39.4 [1.2] weeks; 22 [21.0%] cesarean deliveries) were designated controls. No infants had congenital anomalies. The mean (range) sensitivity for detection of abnormal CTG results and for recommending immediate action for all assessors was 75% (63%-91%) and 41% (23%-57%), respectively, with a mean (range) specificity of 67% (53%-77%) and 87% (65%-99%), respectively. A sensitivity analysis including only assessors with 80% or more interassessor agreement only differed from the main analysis by 6% or less (mean [range] sensitivity for detection, 76% [63%-91%]; sensitivity for action plan, 36% [25%-49%]; specificity for detection, 71% [53%-77%]; and specificity for action plan, 93% [88%-99%]). Conclusions and Relevance: Experienced clinicians detected 3 of 4 infants who were subsequently diagnosed with NE. Action to expedite delivery was recommended for more than 40% of infants with NE. These results indicate that CTG does not identify all infants at risk of NE, and that there is a need for further investment in new approaches to fetal surveillance in labor.
Subject(s)
Asphyxia Neonatorum/complications , Asphyxia Neonatorum/diagnosis , Brain Diseases/complications , Cardiotocography , Clinical Competence/statistics & numerical data , Case-Control Studies , Female , Humans , Infant, Newborn , Midwifery/statistics & numerical data , New Zealand , Physicians/statistics & numerical data , PregnancyABSTRACT
BACKGROUND: Although thalamic magnetic resonance (MR) spectroscopy (MRS) accurately predicts adverse outcomes after neonatal encephalopathy, its utility in infants without MR visible deep brain nuclei injury is not known. We examined thalamic MRS metabolite perturbations in encephalopathic infants with white matter (WM) injury with or without cortical injury and its associations with adverse outcomes. METHODS: We performed a subgroup analysis of all infants recruited to the MARBLE study with isolated WM or mixed WM/cortical injury, but no visible injury to the basal ganglia/thalamus (BGT) or posterior limb of the internal capsule (PLIC). We used binary logistic regression to examine the association of MRS biomarkers with three outcomes (i) WM injury score (1 vs. 2/3); (ii) cortical injury scores (0/1 vs. 2/3); and (iii) adverse outcomes (defined as death, moderate/severe disability) at two years (yes/no). We also assessed the accuracy of MRS for predicting adverse outcome. FINDINGS: Of the 107 infants included in the analysis, five had adverse outcome. Reduced thalamic N-acetylaspartate concentration [NAA] (odds ratio 0.4 (95% CI 0.18-0.93)) and elevated thalamic Lactate/NAA peak area ratio (odds ratio 3.37 (95% CI 1.45-7.82)) were significantly associated with higher WM injury scores, but not with cortical injury. Thalamic [NAA] (≤5.6 mmol/kg/wet weight) had the best accuracy for predicting adverse outcomes (sensitivity 1.00 (95% CI 0.16-1.00); specificity 0.95 (95% CI 0.84-0.99)). INTERPRETATION: Thalamic NAA is reduced in encephalopathic infants without MR visible deep brain nuclei injury and may be a useful predictor of adverse outcomes. FUNDING: The National Institute for Health Research (NIHR).
Subject(s)
Brain Diseases/complications , Brain Diseases/metabolism , Brain Injuries/etiology , Brain Injuries/pathology , Energy Metabolism , Thalamus/metabolism , White Matter/pathology , Biomarkers , Brain Diseases/diagnosis , Brain Injuries/diagnostic imaging , Female , Humans , Infant , Infant, Newborn , Infant, Newborn, Diseases , Magnetic Resonance Imaging , Magnetic Resonance Spectroscopy , Male , Sensitivity and Specificity , White Matter/diagnostic imagingSubject(s)
Brain Diseases/complications , Cerebral Ventricles , Intestinal Obstruction/complications , Intestinal Obstruction/diagnostic imaging , Abdomen/diagnostic imaging , Brain Diseases/diagnostic imaging , Cerebral Ventricles/diagnostic imaging , Diagnosis, Differential , Enema , Female , Humans , Infant, Newborn , Intestinal Obstruction/therapy , MeconiumABSTRACT
BACKGROUND: Galactosemia has not been recognized as a cause of extreme neonatal hyperbilirubinemia, although growing evidence supports this association. METHODS: In a retrospective cohort study, we identified children with galactosemia due to GALT deficiency using the Danish Metabolic Laboratory Database. Among these, we identified children with extreme neonatal hyperbilirubinemia or symptoms of ABE. Extreme neonatal hyperbilirubinemia was defined as maximum total serum bilirubin (TSBmax)) level ≥450 µmol/L and a ratio of conjugated serum bilirubin/TSB <0.30. RESULTS: We identified 21 children with galactosemia (incidence:1:48,000). Seven children developed extreme neonatal hyperbilirubinemia (median [range] TSBmax level: 491 [456-756] µmol/L), accounting for 1.7% of all extreme neonatal hyperbilirubinemia cases. During the first 10 days of life, hyperbilirubinemia was predominantly of unconjugated type. Four children developed symptoms of intermediate/advanced ABE. One additional child had symptoms of intermediate/advanced ABE without having extreme neonatal hyperbilirubinemia. On follow-up, one child had KSD. CONCLUSIONS: Galactosemia is a potential cause of extreme neonatal hyperbilirubinemia, ABE, and KSD. It is crucial that putative galactosemic children are treated aggressively with phototherapy to prevent ABE and KSD. Thus it is important that galactosemia is part of the work up for unconjugated hyperbilirubinemia.
Subject(s)
Bilirubin/blood , Galactosemias/complications , Hyperbilirubinemia, Neonatal/blood , Kernicterus/blood , Adolescent , Brain Diseases/blood , Brain Diseases/complications , Child , Child, Preschool , Cohort Studies , Denmark/epidemiology , Female , Follow-Up Studies , Humans , Hyperbilirubinemia, Neonatal/complications , Infant , Infant, Newborn , Kernicterus/complications , Male , Mutation , Phototherapy , Retrospective StudiesABSTRACT
RATIONALE: Hashimoto's encephalopathy (HE) is associated with autoimmune thyroid disease and is complex, diverse, and easily misdiagnosed. However, if HE is diagnosed and treated in a timely manner, an optimal prognosis may be achieved. PATIENT CONCERNS: We presented a case of a 63-year-old female patient with paroxysmal dizziness, unsteady gait, emotion apathy, progressive cognitive impairment, and unusual magnetic resonance imaging (MRI) findings. DIAGNOSES: After suffering for almost 8 years, the patient was diagnosed with HE based on clinical manifestation, abnormal electroencephalogram, unusual MRI findings, sensitivity to cortisol treatment, and characteristic high antithyroid peroxidase antibody (TpoAb) titer. INTERVENTIONS: The patient continued regular glucocorticoids therapy after intravenous methylprednisolone pulse therapy, neurotrophic drugs, traditional Chinese medicine and rehabilitation to relieve hypermyotonia and cognitive impairment. OUTCOMES: After combined treatment, the patient's symptoms, electroencephalogram (EEG), MRI, and the TpoAb titer gradually improved. However, the patient had to stop glucocorticoids treatment because of severe osteoporosis, fractures and other adverse reactions. Her symptoms fluctuated, and her TpoAb titer increased again. LESSONS: HE may cause highly heterogeneous clinical features, particularly MRI findings. Withdrawal of the systematic glucocorticoids treatment can lead to varied outcomes in these patients.
Subject(s)
Brain Diseases/complications , Encephalitis/diagnosis , Hashimoto Disease/complications , Methylprednisolone/therapeutic use , Administration, Intravenous , Autoantibodies/metabolism , Brain Diseases/diagnostic imaging , Brain Diseases/pathology , Cognitive Dysfunction/diagnosis , Cognitive Dysfunction/etiology , Dizziness/diagnosis , Dizziness/etiology , Electroencephalography , Encephalitis/complications , Encephalitis/metabolism , Encephalitis/therapy , Female , Gait Disorders, Neurologic/diagnosis , Gait Disorders, Neurologic/etiology , Glucocorticoids/administration & dosage , Glucocorticoids/adverse effects , Glucocorticoids/therapeutic use , Hashimoto Disease/diagnosis , Hashimoto Disease/metabolism , Hashimoto Disease/therapy , Humans , Magnetic Resonance Imaging , Methylprednisolone/administration & dosage , Methylprednisolone/adverse effects , Middle Aged , Pulse Therapy, Drug/methods , Tomography, X-Ray Computed , Treatment OutcomeABSTRACT
To explore the relativity between heart-brain and post-stroke anxiety disorder by analyzing the pathogenesis of post-stroke anxiety disorder combined with the physiology and pathology of organs. The acupoint selection thought was explored by its selection rule according to literature. Post-stroke anxiety belongs to the brain organic anxiety disorder, whose basic pathogenesis is mind injury. The crucial cause is heart and brain disorder at the same time. Thus, Baihui (GV 20), Fengfu (GV 16) for brain and Xinshu (BL 15), Shenmen (HT 7) for heart can improve anxiety disorder according to the theories such as five organ, qijie (qi thoroughfare), sihai (four seas), meridian and collateral.
Subject(s)
Acupuncture Points/classification , Anxiety Disorders/therapy , Brain Diseases/complications , Heart Diseases/complications , Stroke/complications , Anxiety Disorders/etiology , Humans , Stroke/psychologyABSTRACT
Objective: To study the clinical effect of high pressure oxygen and Butylphthalide in the recovery of cerebral metabolism after carbon monoxide poisoning. Methods: 84 patients treated from May 2014 to May 2016 in our hospital were selected. The subjects were randomly and equally divided into two groups. The control group adopted the conventional therapy and high pressure oxygen; on the basis, the observation group also took Butylphthalide. The clinical effect, duration of coma, recovery of consciousness, incidence rate of delayed encephalopathy was observed. After 1m of treatment, the HDS point was evaluated. Results: The total effective rate of control group (76.19%, 32/42) was lower than that of observation group (95.24%, 40/42) (P<0.05) . The duration of coma for observation group was shorter than that of control group. The percentage for patients with recovery of consciousness and incidence rate of delayed encephalopathy for observation group was better than that of control group (P<0.05) . The HDS point for observation group was even higher than that of control group (P<0.05) . Conclusion: The high pressure oxygen and butylphthalide can improve the clinical effective rate, shorten the duration of coma and promote the patient's recovery of consciousness. It is worthy of clinical promotion.
Subject(s)
Benzofurans/therapeutic use , Brain Diseases/physiopathology , Brain Diseases/therapy , Carbon Monoxide Poisoning/physiopathology , Carbon Monoxide Poisoning/therapy , Brain Diseases/complications , Carbon Monoxide Poisoning/complications , Humans , Hyperbaric Oxygenation/adverse effects , Oxygen , Treatment OutcomeABSTRACT
In epileptic encephalopathies (EE), interictal epileptiform discharges (IEDs) contribute to cognitive impairment. The EE process has been studied in a patient affected by epilepsy with occipital calcification and celiac disease (CEC syndrome) by combining the administration of brain area stimulus specific (visual and auditory) reaction times (RT) during continuous EEG monitoring with the off-line reconstruction of auditory and visual evoked potentials (EP). Visual RT and VEP were abnormal only if recorded concomitantly to the IEDs. Auditory RT and EP were normal. When the EE process is going on, IEDs transiently disrupt aspects of cortical functioning, contributing to the cognitive impairment.
Subject(s)
Brain Diseases/complications , Brain/physiopathology , Celiac Disease/physiopathology , Celiac Disease/psychology , Cognition , Epilepsy/complications , Acoustic Stimulation , Adult , Brain/diagnostic imaging , Calcinosis/complications , Celiac Disease/complications , Electroencephalography , Evoked Potentials, Auditory , Evoked Potentials, Visual , Female , Humans , Neuropsychological Tests , Occipital Lobe/pathology , Parietal Lobe/pathology , Photic Stimulation , Reaction TimeABSTRACT
BACKGROUND Delayed encephalopathy after acute carbon monoxide (CO) poisoning (DEACMP) is one of the most serious complications after CO poisoning. This study was conducted to explore the efficacy of the combined application of N-Butylphthalide and hyperbaric oxygenation therapy (HBO) on cognitive dysfunction in patients with DEACMP. MATERIAL AND METHODS A total of 184 patients with DEACMP were randomly assigned to either receive HBO or N-Butylphthalide and HBO. Meanwhile, all patients received conventional treatment. The total remission rate (RR) was used to assess the clinical efficacy. The Mini-Mental State Examination (MMSE) was used to assess the cognitive function, and the National Institutes of Health Stroke Scale (NIHSS) was used to assess the neurological function. RESULTS Finally, there were 90 and 94 patients in the control and experimental groups, respectively. After eight weeks of treatment, the total RR in the experimental group (47.9%) was significantly higher than that in the control group (33.3%). Compared to the control group, significantly more patients in the experimental group had MMSE scores of 24-30. The lower NIHSS score in the experimental group showed that N-Butylphthalide had the effect of preservation and restoration of neurological function. No obvious drug toxicity or liver and kidney dysfunction was observed, and there was no significant change in the level of blood glucose and blood lipids. CONCLUSIONS These results indicated that the combined application of N-Butylphthalide and HBO could significantly improve the cognitive dysfunction of patients with DEACMP and have great clinical efficacy, which should be further studied.
Subject(s)
Benzofurans/therapeutic use , Brain Diseases/physiopathology , Brain Diseases/therapy , Carbon Monoxide Poisoning/physiopathology , Carbon Monoxide Poisoning/therapy , Cognitive Dysfunction/therapy , Acute Disease , Brain Diseases/complications , Carbon Monoxide Poisoning/complications , Cognitive Dysfunction/complications , Demography , Female , Humans , Hyperbaric Oxygenation/adverse effects , Male , Middle Aged , Neuropsychological Tests , Remission Induction , Treatment OutcomeABSTRACT
Symmetrical thalamic calcification or bilateral symmetrical thalamic gliosis presents at delivery with hypertonia, fixed flexion contractures and prominent bulbar signs, without preceding perinatal asphyxia. At post-mortem, there is evidence of bilateral symmetrical selective thalamic neuronal encrustation and gliosis. To date, 27 cases are published with no underlying diagnosis identified. Two affected children from singleton pregnancies were reported and therefore, a genetic cause proposed. No previous reports have performed genetic testing to confirm or reject this hypothesis. We report three additional cases of this rare condition, expanding the clinical and pathological phenotype. We performed trio whole exome sequencing, the first in this cohort of patients, and did not identify a pathogenic variant. As postulated in the original report, the likely underlying mechanism is antenatal hypoxia in the third trimester.
Subject(s)
Brain Diseases/complications , Brain Diseases/pathology , Calcinosis/etiology , Thalamus/pathology , Brain Diseases/diagnostic imaging , Brain Diseases/genetics , Calcinosis/diagnostic imaging , Calcinosis/genetics , Exome/genetics , Female , Genetic Testing , Humans , Infant , Magnetic Resonance Imaging , Male , Thalamus/diagnostic imagingABSTRACT
Piracetam exhibits anti-amnesic activity in several animal models of dementia. However, its anti-amnesic potential has yet to be evaluated in type-2 diabetes mellitus (T2DM)-induced encephalopathy. Therefore, in the present study, piracetam (25, 50 and 100 mg/kg) was screened for anti-amnesic and anti-diabetic activity in T2DM-induced encephalopathic male rats. Subsequently, anti-amnesic and anti-diabetic activities were evaluated for piracetam, metformin and their combination in T2DM-induced encephalopathic animals. Rats received streptozotocin (45 mg/kg) and nicotinamide (110 mg/kg) injections on day-1 (D-1) of the experimental schedule and were kept undisturbed for 35 days to exhibit T2DM-induced encephalopathy. All drug treatments were continued from D-7 to D-35 in both experiments. Piracetam (100 mg/kg) attenuated loss in learning and memory in terms of increase in escape latency on D-4 (D-34) and decrease in time spent in the target quadrant on D-5 (D-35) of Morris water maze test protocol, and spatial memory in terms of reduced spontaneous alternation behavior in Y-maze test of encephalopathic rats. Additionally, piracetam attenuated altered levels of fasting plasma glucose and insulin, HOMA-IR and HOMA-B in encephalopathic animals, comparatively lesser than metformin. In the next experiment, combination of piracetam and metformin exhibited better anti-amnesic but not anti-diabetic activity than respective monotherapies in encephalopathic rats. Further, the combination attenuated reduced acetylcholine level and increased acetylcholinesterase activity, increased glycogen synthase kinase-3ß level and decreased brain-derived neurotropic factor level in hippocampus and pre-frontal cortex of encephalopathic animals. Thus, piracetam could be used as an adjuvant to metformin in the management of dementia in T2DM-induced encephalopathy.
Subject(s)
Amnesia/drug therapy , Brain Diseases/drug therapy , Diabetes Mellitus, Experimental/drug therapy , Diabetes Mellitus, Type 2/chemically induced , Diabetes Mellitus, Type 2/drug therapy , Metformin/therapeutic use , Piracetam/therapeutic use , Amnesia/complications , Animals , Blood Glucose/metabolism , Brain Diseases/complications , Brain-Derived Neurotrophic Factor/metabolism , Choline/metabolism , Diabetes Mellitus, Experimental/blood , Diabetes Mellitus, Experimental/complications , Diabetes Mellitus, Type 2/blood , Diabetes Mellitus, Type 2/complications , Drug Therapy, Combination , Glycogen Synthase Kinase 3 beta/metabolism , Hippocampus/drug effects , Hippocampus/metabolism , Hippocampus/pathology , Insulin/blood , Insulin Resistance , Male , Memory/drug effects , Metformin/pharmacology , Piracetam/pharmacology , Prefrontal Cortex/drug effects , Prefrontal Cortex/metabolism , Prefrontal Cortex/pathology , RatsABSTRACT
On April 21, 2015, the first SCN8A Encephalopathy Research Group convened in Washington, DC, to assess current research into clinical and pathogenic features of the disorder and prepare an agenda for future research collaborations. The group comprised clinical and basic scientists and representatives of patient advocacy groups. SCN8A encephalopathy is a rare disorder caused by de novo missense mutations of the sodium channel gene SCN8A, which encodes the neuronal sodium channel Nav 1.6. Since the initial description in 2012, approximately 140 affected individuals have been reported in publications or by SCN8A family groups. As a result, an understanding of the severe impact of SCN8A mutations is beginning to emerge. Defining a genetic epilepsy syndrome goes beyond identification of molecular etiology. Topics discussed at this meeting included (1) comparison between mutations of SCN8A and the SCN1A mutations in Dravet syndrome, (2) biophysical properties of the Nav 1.6 channel, (3) electrophysiologic effects of patient mutations on channel properties, (4) cell and animal models of SCN8A encephalopathy, (5) drug screening strategies, (6) the phenotypic spectrum of SCN8A encephalopathy, and (7) efforts to develop a bioregistry. A panel discussion of gaps in bioregistry, biobanking, and clinical outcomes data was followed by a planning session for improved integration of clinical and basic science research. Although SCN8A encephalopathy was identified only recently, there has been rapid progress in functional analysis and phenotypic classification. The focus is now shifting from identification of the underlying molecular cause to the development of strategies for drug screening and prioritized patient care.
Subject(s)
Brain Diseases/genetics , Epilepsy/etiology , Epilepsy/genetics , NAV1.6 Voltage-Gated Sodium Channel/genetics , Symbiosis/genetics , Animals , Anticonvulsants/therapeutic use , Brain Diseases/complications , Brain Diseases/drug therapy , Disease Progression , Drug Evaluation, Preclinical , Epilepsies, Myoclonic/drug therapy , Epilepsies, Myoclonic/genetics , Epilepsy/drug therapy , Humans , Models, Molecular , NAV1.1 Voltage-Gated Sodium Channel/genetics , NAV1.6 Voltage-Gated Sodium Channel/metabolism , PhenotypeABSTRACT
We report the case of a 73-year-old woman presenting with hypersomnia and loss of appetite. She suffered from diabetic nephropathy without receiving dialysis, in addition to hypertension, which was well controlled without marked fluctuation. There were no objective neurological findings. Her laboratory findings showed renal failure with 3.7â mg/dl of serum creatinine and decreased serum sodium and potassium. Brain magnetic resonance imaging (MRI) showed posterior reversible encephalopathy syndrome (PRES) with vasogenic edema, which was distributed in the dorsal midbrain, medial thalamus, and hypothalamus. After we addressed the electrolyte imbalance and dehydration, her symptoms and MRI findings gradually improved, but faint high signals on MRI were still present 3 months later. Orexin in the cerebrospinal fluid was decreased on admission, but improved 6 months later. We diagnosed uremic encephalopathy with atypical form PRES showing functional disturbance of the hypothalamus.
Subject(s)
Brain Diseases/complications , Brain Edema/etiology , Disorders of Excessive Somnolence/etiology , Hypothalamus , Mesencephalon , Uremia/complications , Aged , Diabetic Nephropathies/complications , Feeding and Eating Disorders/etiology , Female , Humans , Hypertension/complications , SyndromeABSTRACT
Coenzyme Q10 (CoQ10) has an important role in mitochondrial energy metabolism by way of its functioning as an electron carrier in the respiratory chain. Genetic defects disrupting the endogenous biosynthesis pathway of CoQ10 may lead to severe metabolic disorders with onset in early childhood. Using exome sequencing in a child with fatal neonatal lactic acidosis and encephalopathy, we identified a homozygous loss-of-function variant in COQ9. Functional studies in patient fibroblasts showed that the absence of the COQ9 protein was concomitant with a strong reduction of COQ7, leading to a significant accumulation of the substrate of COQ7, 6-demethoxy ubiquinone10. At the same time, the total amount of CoQ10 was severely reduced, which was reflected in a significant decrease of mitochondrial respiratory chain succinate-cytochrome c oxidoreductase (complex II/III) activity. Lentiviral expression of COQ9 restored all these parameters, confirming the causal role of the variant. Our report on the second COQ9 patient expands the clinical spectrum associated with COQ9 variants, indicating the importance of COQ9 already during prenatal development. Moreover, the rescue of cellular CoQ10 levels and respiratory chain complex activities by CoQ10 supplementation points to the importance of an early diagnosis and immediate treatment.
Subject(s)
Acidosis, Lactic/complications , Acidosis, Lactic/genetics , Brain Diseases/complications , Brain Diseases/genetics , Mitochondrial Proteins/genetics , Mutation/genetics , Ubiquinone/genetics , Brain/pathology , Brain Diseases/diagnostic imaging , Electron Transport Chain Complex Proteins/genetics , Fatal Outcome , Homozygote , Humans , Infant, Newborn , Male , UltrasonographyABSTRACT
OBJECTIVE: To compare the difference of clinical efficacy on sleeping disorder in the children with encephalopathy between the combined therapy of acupuncture at head points and seed-pressure at ear points and the simple acupuncture at head points. METHODS: Thirty cases of sleeping disorder induced by encephalopathy werei randomized into an observation group and a control group, 15 cases in each one. In the observation group, the combined therapy of acupuncture at head points and seed-pressure at ear points was adopted. The head points in cluded Sishencong (EX-HN 1), Shenting (GV 24) and Benshen (GB 13). The ear points were the positive reactive sites in the cymba and cavum conchae. In the control group, acupuncture was applied simply to the acupoints on the head. The treatment was given once on every Tuesday and Friday a week separately, 30 min each time. Totally, 16 treatments were required. Children's sleeping habit questionnaire (CSHQ) was used to observe the sleep improvements and the efficacy in the patients of the two groups. RESULTS: In the observation group, the results of sleep resistance, sleep anxiety, night sleep wake, parasomnias, sleep dyspnea, daytime somnolence and the total score after treatment were all improved apparently as compared with those before treatment (all P<0. 05). In the control group, the results of night sleep wake, parasomnias, daytime somnolence and the total score after treatment were improved apparently than those before treatment (all P<0. 05). In the observation group, the results of sleep resistance, sleep dyspnea and the total score after treatment were better than those in the control group (all P<0. 05) and the scores of sleep anxiety and daytime somnolence in the control group were better than those in the observation group after treatment (both P<0. 05). CONCLUSION: The combined therapy of acupuncture at head points and seed-pressure at the positive reactive sites in the cymba and cavum conchae achieves the superior efficacy on sleep resistance and sleep dyspnea as compared with the simple acupuncture. The efficacy of simple acupuncture is more satisfactory on sleep anxiety and daytime somnolence.
Subject(s)
Acupuncture Points , Acupuncture Therapy , Brain Diseases/complications , Sleep Wake Disorders/therapy , Acupuncture, Ear , Child , Child, Preschool , Female , Humans , Infant , Male , Sleep , Sleep Wake Disorders/etiology , Sleep Wake Disorders/physiopathologyABSTRACT
Results obtained in both animal models and hemianopic patients indicate that sound, spatially and temporally coincident with a visual stimulus, can improve visual perception in the blind hemifield, probably due to activation of 'multisensory neurons', mainly located in the superior colliculus. In view of this evidence, a new rehabilitation approach, based on audiovisual stimulation of visual field, has been proposed, and applied in adults with visual field reduction due to unilateral brain lesions. So far, results have been very encouraging, with improvements in visual search abilities. Based on these findings, we have investigated the possibility of inducing long-lasting amelioration also in children with a visual deficit due to acquired brain lesions. Our results suggest that, in the absence of spontaneous recovery, audiovisual training can induce activation of visual responsiveness of the oculomotor system also in children and adolescents with acquired lesions and confirm the putatively important role of the superior colliculus (SC) in this process.
Subject(s)
Acoustic Stimulation/methods , Brain Diseases/complications , Hemianopsia/rehabilitation , Photic Stimulation/methods , Visual Fields/physiology , Visual Perception/physiology , Adolescent , Brain Diseases/diagnosis , Child , Female , Hemianopsia/etiology , Hemianopsia/physiopathology , Humans , Magnetic Resonance Imaging , MaleABSTRACT
BACKGROUND: The patients with brain lesion have a high risk of pulmonary complication due to restrictive pulmonary impairment. OBJECTIVE: To investigate the effectiveness of active pulmonary rehabilitation on pulmonary functional improvement in these patients. METHODS: Twnety-two patients of hemiplegia or quadriplegia with brain lesion were recruited who had restrictive pulmonary impairment. The patients were randomly assigned to an experimental group that receive active pulmonary rehabilitation training and a control group without it. The active pulmonary rehabilitation training is composed of air-stacking exercise by ambu-bagging and functional electrical stimulation (FES) on phrenic nerve and abdominal muscle. We examined respiration function test of all patients composed of peak cough flow (PCF), pulmonary function test (PFT), diaphragmatic motion evaluation and oxygen saturation (SaO2) at the beginning and 4 weeks after treatment. RESULTS: There was no significant difference in pulmonary function between experimental group and control group at the beginning. After 4 weeks treatment, FVC and FEV1 of PFT, PCF, diaphragmatic motion, SaO2 have significantly improved (p < 0.05) in experimental group, but no significant changes were detected in control group. CONCLUSIONS: It is suggested that active pulmonary rehabilitation with air-stacking exercise and FES would be useful to improve pulmonary function in patients with brain lesion.
Subject(s)
Brain Diseases/rehabilitation , Breathing Exercises/methods , Lung Diseases/rehabilitation , Abdominal Muscles , Aged , Brain Diseases/complications , Cough/physiopathology , Diaphragm/physiopathology , Electric Stimulation Therapy , Female , Forced Expiratory Volume , Hemiplegia/etiology , Hemiplegia/rehabilitation , Humans , Lung Diseases/etiology , Lung Diseases/physiopathology , Male , Middle Aged , Oxygen/blood , Phrenic Nerve , Quadriplegia/etiology , Quadriplegia/rehabilitation , Respiratory Function Tests , Treatment Outcome , Vital CapacityABSTRACT
BACKGROUND: We aimed to assess the characteristics of thalamic lesions in children with acute encephalopathy with biphasic seizures and late reduced diffusion. METHODS: Using the Tokai Pediatric Neurology Society database, we identified and enrolled 18 children with acute encephalopathy with biphasic seizures and late reduced diffusion from 2008 to 2010. Using diffusion-weighted images, we identified patients with thalamic lesions and compared their clinical factors with those of patients without thalamic lesions. We analyzed the time sequence of thalamic, sucortical, and cortical lesions. To study the topography of thalamic lesions, we divided the thalamus into five sections: anterior, medial, anterolateral, posterolateral, and posterior. Subsequently, we analyzed the relationship between the topography of thalamic lesions and the presence of central-sparing. RESULTS: Seven children presented with symmetrical thalamic lesions associated with bilateral subcortical or cortical lesions. No statistical difference in the clinical features was observed between individuals with and without thalamic lesions. These lesions were observed only when subcortical or cortical lesions were present. In 5 children, thalamic lesions were present in bilateral anterior or anterolateral sections and were associated with subcortical or cortical lesions in bilateral frontal lobes with central-sparing. In the other two children, thalamic lesions were extensive and accompanied by diffuse subcortical and cortical lesions without central-sparing. CONCLUSION: Thalamic lesions in patients with acute encephalopathy with biphasic seizures and late reduced diffusion involve the anterior sections. The thalamocortical network may play a role in development of thalamic lesions in patients with acute encephalopathy with biphasic seizures and late reduced diffusion.