scholarly journals The phenotype of SCN8A developmental and epileptic encephalopathy

Neurology ◽  
2018 ◽  
Vol 91 (12) ◽  
pp. e1112-e1124 ◽  
Author(s):  
Elena Gardella ◽  
Carla Marini ◽  
Marina Trivisano ◽  
Mark P. Fitzgerald ◽  
Michael Alber ◽  
...  
Keyword(s):  
Early Childhood ◽  
Brain Mri ◽  
Gastrointestinal Symptoms ◽  
Brain Dysfunction ◽  
Clonic Seizure ◽  
Epileptic Encephalopathy ◽  
Cortical Blindness ◽  
Beta Activity ◽  
Risk Of Death ◽  
Extrapyramidal Signs

ObjectiveTo delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558).MethodsTwenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment.ResultsSixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years. Death occurred in 4 children, following extreme neurologic deterioration, at 22 months to 5.5 years. Nonconvulsive status epilepticus recurred in 14 of 22 patients. The most effective antiepileptic drugs were oxcarbazepine, carbamazepine, phenytoin, and benzodiazepines. EEG showed background deterioration, epileptiform abnormalities with a temporo-occipital predominance, and posterior delta/beta activity correlating with visual impairment. Video-EEG documented focal seizures (FS) (22/22), spasm-like episodes (8/22), cortical myoclonus (8/22), and myoclonic absences (1/22). FS typically clustered and were prolonged (<20 minutes) with (1) cyanosis, hypomotor, and vegetative semiology, sometimes unnoticed, followed by (2) tonic-vibratory and (3) (hemi)-clonic manifestations ± evolution to a bilateral tonic-clonic seizure. FS had posterior-temporal/occipital onset, slowly spreading and sometimes migrating between hemispheres. Brain MRI showed progressive parenchymal atrophy and restriction of the optic radiations.Conclusions:SCN8A developmental and epileptic encephalopathy has strikingly consistent electroclinical features, suggesting a global progressive brain dysfunction primarily affecting the temporo-occipital regions. Both uncontrolled epilepsy and developmental compromise contribute to the profound impairment (increasing risk of death) during early childhood, but stabilization occurs in late childhood.

Dental Caries Severity and Nutritional Status of Nigerian Preschool Children

2021 ◽  
pp. 238008442110021
Author(s):  
O.O. Olatosi ◽  
A.A. Alade ◽  
T. Naicker ◽  
T. Busch ◽  
A. Oyapero ◽  
...  
Keyword(s):  
Early Childhood ◽  
Dental Caries ◽  
Nutritional Status ◽  
Early Childhood Caries ◽  
Z Score ◽  
Cross Sectional ◽  
Risk Of Death ◽  
Malnourished Children ◽  
Z Scores ◽  
Childhood Caries

Introduction: Malnutrition in children is one of the most prevalent global health challenges, and malnourished children have a higher risk of death from childhood diseases. Early childhood caries (ECC) is the most common chronic disease of childhood. Complications from ECC such as pain, loss of tooth/teeth, and infection can undermine a child’s nutrition and growth. Aim: This study aims to evaluate the severity of decay, missing, and filled tooth (dmft) by nutritional status using the z scores of the anthropometric measurements: height for age (HFA), weight for age (WFA), weight for height (WFH), and body mass index for age (BMIA) among children with ECC in Nigeria. Study Design: This is a cross-sectional study conducted in 5 local government areas (LGAs) in Lagos State, Nigeria. A multistage sampling technique was used. Results: A total of 273 cases of ECC were included in the analyses (mean age 4.19 ± 0.96 y). Overall, the mean dmft was 3.04 ± 2.28, and most (96%) were accounted for by untreated decay. The distribution of dmft within the different z score categories of BMIA (<–3 = severely wasted, –2 to –3 = wasted, –2 to +2 = normal, +2 to +3 = overweight and >+3 = obese) showed the highest dmft scores among the combined severely wasted and wasted groups, lowest among children with normal z scores, and intermediate in the overweight and obese groups. There was a significant negative correlation between BMIA z score, WFH z score, and dmft ( r = −0.181, P < 0.05 and r = −0.143, P < 0.05, respectively). However, the correlations between HFA z score, WFA z score, and dmft were positive but not significant ( r = 0.048, P = 0.44 and r = 0.022, P = 0.77, respectively). Conclusion: Our study showed an increased severity of dental caries among severely wasted or wasted children with ECC compared to those of normal or overweight. Knowledge Transfer Statement: The results from this study will raise awareness among clinicians and policy makers on the need for a primary prevention program for early childhood caries in countries with high burden of malnutrition and limited resources. Also, it will help draw the attention of clinicians to the caries status of malnourished children that can be managed to improve the nutritional outcomes.

scholarly journals Methomyl poisoning presenting with decorticate posture and cortical blindness

2014 ◽  
Vol 6 (1) ◽  
Author(s):  
Chih-Ming Lin
Keyword(s):  
Brain Mri ◽  
Vital Signs ◽  
Altered Mental Status ◽  
Cortical Blindness ◽  
High Signal ◽  
Blurred Vision ◽  
Cerebral Disease ◽  
Cerebral Magnetic Resonance Imaging ◽  
Neurological Effects ◽  
Magnetic Resonance Imaging Mri

Methomyl is a potent pesticide that is widely used in the field of agriculture. The systemic toxic effects of methomyl have been well described. However, the neurological effects of methomyl intoxication are not well understood. In this study, we report a 61-year-old Taiwanese man sent to our emergency department because of altered mental status. His family stated that he had consumed liquid methomyl in a suicide attempt. He was provided cardiopulmonary resuscitation because of unstable vital signs. He was then sent to an intensive care unit for close observation. On the second day of admission, he regained consciousness but exhibited irregular limb and torso posture. On the sixth day, he started to complain of blurred vision. An ophthalmologist was consulted but no obvious abnormalities could be identified. On suspicion of cerebral disease, a neurologist was consulted. Further examination revealed cortical blindness and decorticate posture. Cerebral magnetic resonance imaging (MRI) was arranged, which identified bilateral occipital regions lesions. The patient was administered normal saline and treated with aspirin and piracetam for 3 weeks in hospital. During the treatment period, his symptom of cortical blindness resolved, whereas his decorticate posture was refractory. Follow-up brain MRI results supported our clinical observations by indicating the disappearance of the bilateral occipital lesions and symmetrical putaminal high signal abnormalities. In this article, we briefly discuss the possible mechanisms underlying the cerebral effects of methomyl poisoning. Our study can provide clinicians with information on the manifestations of methomyl intoxication and an appropriate treatment direction.

MO412THE RISK FACTORS OF ACUTE KIDNEY INJURY CAUSED BY HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Siwen Wang ◽  
Jia Yang ◽  
Chen Xuelian ◽  
Jiaojiao Zhou ◽  
Lichuan Yang
Keyword(s):  
Risk Factors ◽  
Acute Kidney Injury ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Strong Predictor ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Gastrointestinal Symptoms ◽  
Kidney Injury ◽  
Total Bilirubin Level ◽  
Risk Of Death

Abstract Background and Aims Hemophagocytic lymphohistiocytosis (HLH) is a syndrome characterized by overproduction of proinflammatory cytokines and hemophagocytosis. Acute kidney injury (AKI) is the most common complication of HLH in the kidney, which is a strong predictor of poor prognosis. In this retrospective study, we aimed to find the risk factors of AKI in patients with HLH. Method We screened all adult patients with HLH admitted to West China Hospital of Sichuan University from January 2009 to June 2019. Patients in this study were secondary HLH according to the HLH diagnostic criteria revised by the Histocyte Society in 2004. Patients with HLH were excluded from the study if they had a functioning kidney transplant, received renal replacement therapy (RRT) in the past month, suffered from end-stage renal disease (ESRD), or had the renal malignant tumor. We collected basic information, clinical manifestations, and laboratory data of patients from electronic medical records. Results A total of 600 patients with confirmed diagnosis of secondary HLH are included in our analysis. There are 199(33.2%)HLH-induced AKI patients, among whom 37.2%, 32.7%, and 30.2% are classified as AKI I, II, and III, respectively, according to the 2012 KDIGO (Kidney Disease: Improving Global Outcomes) guideline. Overall hospital mortality is 176(29.3%), and the number of deaths in patients with AKI was much higher than that in patients without AKI (53.3% versus 17.5%, P &lt; 0.001). The risk factors of AKI in patients with HLH were hyperphosphatemia (P&lt;0.001, OR 5.448, 95%CI 2.951-10.059) , vasopressor(P&lt;0.001, OR 3.485, 95%CI 2.114-5.746), heart failure (P=0.044, 0R 2.336, 95%CI 1.022-5.340), gastrointestinal symptoms (P=0.043, OR 1.877, 95%CI 1.021-3.453), increased heart rate (P=0.005, OR 1.017, 95%CI 1.005-1.029), elevated total bilirubin level(P&lt;0.001, OR 1.004, 95%CI 1.002-1.007), and hypoproteinemia (P=0.034, OR 0.939, 95%CI 0.886-0.995). Conclusion The incidence of AKI was higher in patients with HLH, and the risk of death was significantly higher in HLH patients with AKI. A variety of risk factors are related to the occurrence of HLH-induced AKI. Identifying and correcting them early in clinical diagnosis and treatment may reduce the incidence of AKI in patients with HLH and improve the prognosis of them.

Posterior reversible encephalopathy syndrome following Miller-Fisher syndrome

2021 ◽  
Vol 14 (7) ◽  
pp. e242231
Author(s):  
Catarina Bernardes ◽  
Cristiana Silva ◽  
Gustavo Santo ◽  
Inês Correia
Keyword(s):  
Intravenous Immunoglobulin ◽  
Posterior Reversible Encephalopathy Syndrome ◽  
Brain Mri ◽  
Clonic Seizure ◽  
Miller Fisher Syndrome ◽  
Fisher Syndrome ◽  
Posterior Reversible Encephalopathy ◽  
Fluid Analysis ◽  
Immunoglobulin Treatment ◽  
Reversible Encephalopathy

A 71-year-old woman presented to the emergency room with dysphonia, diplopia, dysphagia and generalised weakness since that day. Neurological examination revealed eye adduction limitation, ptosis, hypoactive reflexes and gait ataxia. Blood and cerebrospinal fluid analysis and brain CT were normal. Electromyography revealed a sensory axonal polyneuropathy. She was diagnosed with Miller-Fisher syndrome (MFS) and started on intravenous immunoglobulin. Two days after intravenous immunoglobulin treatment was completed, she developed a sustained hypertensive profile and presented a generalised tonic-clonic seizure. Brain MRI was suggestive of posterior reversible encephalopathy syndrome (PRES) and supportive treatment was implemented with progressive improvement. PRES may be a possible complication of MFS not only due to autonomic and inflammatory dysfunctions, but also as a consequence of its treatment. Patients with MFS should be maintained under close surveillance, especially in the first days and preferably in intermediate care units.

Abstract 1667: Early Childhood Mental Development After Transfusion-free Cardiac Surgery On Cardiopulmonary Bypass: A Multi-institutional Study

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Tomohiko Ukai ◽  
Takenori Adachi ◽  
Atsusi Numaguchi ◽  
Daichi Fukumi ◽  
Toshiaki Yasuda ◽  
...  
Keyword(s):  
Early Childhood ◽  
Cardiac Surgery ◽  
Cardiopulmonary Bypass ◽  
Brain Dysfunction ◽  
Hemoglobin Level ◽  
Mental Development ◽  
Blood Products ◽  
Surgical Closure ◽  
Group A ◽  
Group B

Background: The use of blood products is often necessary to prime the extracorporeal circuits for pediatric cardiac surgical patients. The use of blood products carries serious risks both in the acute and long-term aspects of patient care. However, excessive hemodilution during cardiopulmonary bypass (CPB) is associated with decreased oxygen carrying capacity, edema, and organ dysfunction. Especially, whether brain dysfunction after transfusion-free cardiac surgery on CPB occurred is unknown. Objective: This study aims to investigate whether excessive hemodilution affects child’s mental development. Methods: We studied 143 infants (24.2 +/− 15.8 months, 5 months ~ 3 years of age) had performed surgical closure of ventricular septal defect (VSD) in less than 12 months (4.8 +/− 2.6 months) of age in 7 children’s hospitals. Questionnaires mailed to the parents included the Tsumori-Inage Infant Developmental Scale estimating subjects’ behavioral developmental level as Developmental Quotients (DQ). The infants were divided into 3 groups; transfusion-free (Group A, n=52), transfusion during CPB (Group B, n=24) and transfusion after CPB (Group C, n=66). Results: Lower DQ was found for Group A (94.7 +/− 11.6) than Group B (103.5 +/− 16.0, p=0.008) and Group C (101.7 +/− 17.9, p=0.016). No correlation was found between DQ and minimum hemoglobin level during CPB (min-Hb) in Group A. The DQ was likely to be lower in the infants with below 6 g/dl (93.0 +/− 13.0) than with over 6 g/dl (98.7 +/− 8.3. p=0.10) of min-Hb. Conclusions: The results suggest that the infants after transfusion-free surgery of VSD on CPB delay in the mental development in their early childhood. Maintaining minimum hemoglobin level over 6 g/dl during CPB seems to prevent the mental development from delay.

scholarly journals SAT-062 Twins with a Homozygous Variant of ARNT2, This Is a Known Saudi Mutation (KSM) of Webb- Dattani Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Abdullah Abdulruhman Aljasser
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Brain Mri ◽  
Autosomal Recessive Disorder ◽  
Cortical Blindness ◽  
High Signal ◽  
Thin Corpus Callosum ◽  
Homozygous Variant ◽  
Saudi Family ◽  
Delayed Myelination

Abstract Webb-Dattani syndrome (WEDAS) is an autosomal recessive disorder caused by mutation in the ARNT2 gene characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency. The condition is reported to be associated with consanguinity and with Saudi Arabian ancestry. We presented twin baby girls with developmental delayment seizures, and microcephaly. They have also hypopituitarism in the form of diabetes insipidus and hypocortlisim. also they have cortical blindness. Their brain MRI shows brain atrophic changes and delayed myelination thin corpus callosum,and small pituitary gland ad absence posterior high signal spot and pituitary stalk. Genetic testing by Exome sequencing was done and it shows A homozygous variant of ARNT2 (ARNT2:NM_014862:exon3:c.147-1G&gt;A). One of this twin her condition deteriorated with uncontrolled seizures and spasticity and died at age 22 months. Conclusion: we report another cases of the ARNT2 mutation in a Saudi family illustrating the disease of webb-dattani Syndrome with seizures and hypopituitarism and severe visual impairment and global developmental delayment.

scholarly journals Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

2020 ◽  
Vol 6 (1) ◽  
pp. e387 ◽  
Author(s):  
Annalisa Vetro ◽  
Tiziana Pisano ◽  
Silvia Chiaro ◽  
Elena Procopio ◽  
Azzurra Guerra ◽  
...  
Keyword(s):  
Neurodevelopmental Disorder ◽  
Brain Mri ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Premature Death ◽  
Epileptic Encephalopathy ◽  
Whole Exome ◽  
Mri Scans ◽  
Severe Hypotonia ◽  
Profound Disability

ObjectiveTo describe clinical, biochemical, and molecular genetic findings in a large inbred family in which 4 children with a severe early-onset epileptic-dyskinetic encephalopathy, with suppression burst EEG, harbored homozygous mutations of phosphatidylinositol glycan anchor biosynthesis, class P (PIGP), a member of the large glycosylphosphatidylinositol (GPI) anchor biosynthesis gene family.MethodsWe studied clinical features, EEG, brain MRI scans, whole-exome sequencing (WES), and measured the expression of a subset of GPI-anchored proteins (GPI-APs) in circulating granulocytes using flow cytometry.ResultsThe 4 affected children exhibited a severe neurodevelopmental disorder featuring severe hypotonia with early dyskinesia progressing to quadriplegia, associated with infantile spasms, focal, tonic, and tonic-clonic seizures and a burst suppression EEG pattern. Two of the children died prematurely between age 2 and 12 years; the remaining 2 children are aged 2 years 7 months and 7 years 4 months. The homozygous c.384del variant of PIGP, present in the 4 patients, introduces a frame shift 6 codons before the expected stop signal and is predicted to result in the synthesis of a protein longer than the wild type, with impaired functionality. We demonstrated a reduced expression of the GPI-AP CD16 in the granulocytic membrane in affected individuals.ConclusionsPIGP mutations are consistently associated with an epileptic-dyskinetic encephalopathy with the features of early infantile epileptic encephalopathy with profound disability and premature death. CD16 is a valuable marker to support a genetic diagnosis of inherited GPI deficiencies.

scholarly journals Colorectal Cancer Survival in 50- to 69-Year-Olds after Introducing the Faecal Immunochemical Test

Cancers ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2412
Author(s):  
María Angeles Gutierrez-Stampa ◽  
Vanessa Aguilar ◽  
Cristina Sarasqueta ◽  
Joaquín Cubiella ◽  
Isabel Portillo ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Survival ◽  
Gastrointestinal Symptoms ◽  
Diagnostic Strategy ◽  
Rank Tests ◽  
Faecal Immunochemical Test ◽  
Risk Of Death ◽  
Kaplan Meier ◽  
Immunochemical Test ◽  
Group 3

Population screening has improved early diagnosis of colorectal cancer (CRC). Nonetheless, most cases are diagnosed in symptomatic patients. Faecal immunochemical testing has been recommended for assessing patients with lower gastrointestinal symptoms, but whether it improves patient survival is unknown. Our objective was to compare CRC survival in 50- to 69-year-olds between asymptomatic screen-detected patients and symptomatic patients by route to diagnosis. Methods: We identified all cases of CRC diagnosed in 50-to 69-year-olds between 2009 and 2016, in Donostialdea (Gipuzkoa, Spain). Three groups were created: 1-screen-detected CRC; 2-CRC detected in symptomatic patients after a positive faecal immunochemical test(FIT); and 3-CRC detected in symptomatic patients without a FIT or after a negative result. We analysed survival using the Kaplan-Meier method and log-rank tests. Results: Of 930 patients diagnosed with CRC, 433 cases were detected through screening and 497 in symptomatic patients, 7.9% after a positive FIT and 45.5% by other means. The 3-year CRC survival was significantly lower in group 3 (69.5%) than groups 1 (93%; p = 0.007) or 2 (87.5%; p = 0.02). The risk of death was lower in groups 1 (HR 0.42, 95% CI 0.30–0.58) and 2 (HR 0.51; 95% CI 0.29–0.87). Conclusion: Half of CRC cases in 50- to 69-year-olds are diagnosed outside screening. Use of the FIT as a diagnostic strategy in symptomatic patients may improve survival.

The effectiveness of electroconvulsive therapy: A literature review

2010 ◽  
Vol 19 (4) ◽  
pp. 333-347 ◽  
Author(s):  
John Read ◽  
Richard Bentall
Keyword(s):  
Electroconvulsive Therapy ◽  
Conflicts Of Interest ◽  
Cost Benefit Analysis ◽  
Cost Benefit ◽  
Anterograde Amnesia ◽  
Brain Dysfunction ◽  
Risk Of Death ◽  
Increased Risk ◽  
Meta Analyses ◽  
The Cost

SUMMARYAim – To review the literature on the efficacy of electroconvulsive therapy [ECT], with a particular focus on depression, its primary target group. Methods – PsycINFO, Medline, previous reviews and meta-analyses were searched in an attempt to identify all studies comparing ECT with simulated-ECT [SECT]. Results – These placebo controlled studies show minimal support for effectiveness with either depression or ‘schizophrenia’ during the course of treatment (i.e. only for some patients, on some measures, sometimes perceived only by psychiatrists but not by other raters), and no evidence, for either diagnostic group, of any benefits beyond the treatment period. There are no placebo-controlled studies evaluating the hypothesis that ECT prevents suicide, and no robust evidence from other kinds of studies to support the hypothesis. Conclusions – Given the strong evidence (summarised here) of persistent and, for some, permanent brain dysfunction, primarily evidenced in the form of retrograde and anterograde amnesia, and the evidence of a slight but significant increased risk of death, the cost-benefit analysis for ECT is so poor that its use cannot be scientifically justified.Declaration of Interest: Neither author has any financial conflicts of interest in relation to this paper.

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