Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms

2020 ◽  
Author(s):  
Divya Nagabushana ◽  
Aparajita Chatterjee ◽  
Raghavendra Kenchaiah ◽  
Ajay Asranna ◽  
Gautham Arunachal ◽  
...  
Keyword(s):  
Late Onset ◽  
Neurodevelopmental Disorder ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
The Past ◽  
Resource Limited ◽  
The Central Nervous System ◽  
Motor Milestone ◽  
Behavior And Cognition ◽  
Atypical Rett Syndrome

Abstract Introduction IQSEC2-related encephalopathy is an X-linked childhood neurodevelopmental disorder with intellectual disability, epilepsy, and autism. This disorder is caused by a mutation in the IQSEC2 gene, the product of which plays an important role in the development of the central nervous system. Case Report We describe the symptomatology, clinical course, and management of a 17-month-old male child with a novel IQSEC2 mutation. He presented with an atypical Rett syndrome phenotype with developmental delay, autistic features, midline stereotypies, microcephaly, hypotonia and epilepsy with multiple seizure types including late-onset infantile spasms. Spasms were followed by worsening of behavior and cognition, and regression of acquired milestones. Treatment with steroids led to control of spasms and improved attention, behavior and recovery of lost motor milestone. In the past 10 months following steroid therapy, child lags in development, remains autistic with no further seizure recurrence. Conclusion IQSEC2-related encephalopathy may present with atypical Rett phenotype and childhood spasms. In resource-limited settings, steroids may be considered for spasm remission in IQSEC2-related epileptic encephalopathy.

scholarly journals Shizofrenija z začetkom v poznem življenjskem obdobju

2018 ◽  
Vol 86 (9-11) ◽  
Author(s):  
Lea Žmuc Veranič ◽  
Veronika Grilj ◽  
Gaber Bergant
Keyword(s):  
Early Onset ◽  
Treatment Guidelines ◽  
Late Onset ◽  
Medical Profession ◽  
Current Treatment ◽  
Early Onset Schizophrenia ◽  
Comprehensive Overview ◽  
The Past ◽  
The Central Nervous System ◽  
Treatment Prognosis

In recent years, late-onset schizophrenia is a subject of controversial debate in the medical profession largely due to difficulties in reaching a consensus on the diagnosis of the disorder. In the present article we try to summarize in one place the scientific resources that were studying this disorder in the past decades and present a comprehensive overview from diagnosis to treatment of this relatively common disorder. Late-onset schizophrenia differs from early-onset schizophrenia in terms of symptoms, treatment, prognosis and pathogenesis, which is in early-onset schizophrenia based mainly on the developmental causes, whereas late-onset schizophrenia is most likely the result of a degenerative process within the central nervous system. Differential diagnosis of this disorder can be especially challenging and therefore demands additional attention. It is necessary to exclude degenerative diseases, expansive processes, neurological and psychiatric disorders, and ultimately, the abuse of psychoactive substances. Lately, there has been a lot of research done on genetic causes that could explain pathogenesis of the disorder, however, knowledge of the genetic influence for the establishment of clinical diagnosis is at this moment still inadequate. Thus, a clinical examination of the patient still remains the gold standard for the diagnosis of late-onset schizophrenia. Finally, we highlight the particularities of pharmacotherapy and summarize the current treatment guidelines for late-onset schizophrenia.

Brain-eating Amoebae Infection: Challenges and Opportunities in Chemotherapy

2019 ◽  
Vol 19 (12) ◽  
pp. 980-987 ◽  
Author(s):  
Mohammad Ridwane Mungroo ◽  
Ayaz Anwar ◽  
Naveed Ahmed Khan ◽  
Ruqaiyyah Siddiqui
Keyword(s):  
Mortality Rate ◽  
Free Living ◽  
Outdoor Activities ◽  
The Past ◽  
Free Living Amoeba ◽  
Challenges And Opportunities ◽  
Life Threatening ◽  
The Central Nervous System ◽  
Living Nature ◽  
Treatment And Diagnosis

Pathogenic free-living amoeba are known to cause a devastating infection of the central nervous system and are often referred to as “brain-eating amoebae”. The mortality rate of more than 90% and free-living nature of these amoebae is a cause for concern. It is distressing that the mortality rate has remained the same over the past few decades, highlighting the lack of interest by the pharmaceutical industry. With the threat of global warming and increased outdoor activities of public, there is a need for renewed interest in identifying potential anti-amoebic compounds for successful prognosis. Here, we discuss the available chemotherapeutic options and opportunities for potential strategies in the treatment and diagnosis of these life-threatening infections.

scholarly journals The Microbiota–Gut–Brain Axis and Alzheimer Disease. From Dysbiosis to Neurodegeneration: Focus on the Central Nervous System Glial Cells

2021 ◽  
Vol 10 (11) ◽  
pp. 2358
Author(s):  
Maria Grazia Giovannini ◽  
Daniele Lana ◽  
Chiara Traini ◽  
Maria Giuliana Vannucchi
Keyword(s):  
Alzheimer Disease ◽  
Glial Cells ◽  
Cell Types ◽  
The Past ◽  
The Central Nervous System ◽  
Diseased State ◽  
The Brain ◽  
Alzheimer Disease Pathogenesis ◽  
Brain Homeostasis

The microbiota–gut system can be thought of as a single unit that interacts with the brain via the “two-way” microbiota–gut–brain axis. Through this axis, a constant interplay mediated by the several products originating from the microbiota guarantees the physiological development and shaping of the gut and the brain. In the present review will be described the modalities through which the microbiota and gut control each other, and the main microbiota products conditioning both local and brain homeostasis. Much evidence has accumulated over the past decade in favor of a significant association between dysbiosis, neuroinflammation and neurodegeneration. Presently, the pathogenetic mechanisms triggered by molecules produced by the altered microbiota, also responsible for the onset and evolution of Alzheimer disease, will be described. Our attention will be focused on the role of astrocytes and microglia. Numerous studies have progressively demonstrated how these glial cells are important to ensure an adequate environment for neuronal activity in healthy conditions. Furthermore, it is becoming evident how both cell types can mediate the onset of neuroinflammation and lead to neurodegeneration when subjected to pathological stimuli. Based on this information, the role of the major microbiota products in shifting the activation profiles of astrocytes and microglia from a healthy to a diseased state will be discussed, focusing on Alzheimer disease pathogenesis.

scholarly journals Current Evidence on the Role of the Gut Microbiome in ADHD Pathophysiology and Therapeutic Implications

Nutrients ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 249
Author(s):  
Ana Checa-Ros ◽  
Antonio Jeréz-Calero ◽  
Antonio Molina-Carballo ◽  
Cristina Campoy ◽  
Antonio Muñoz-Hoyos
Keyword(s):  
Gut Microbiome ◽  
Pediatric Patients ◽  
Neurodevelopmental Disorder ◽  
Current Evidence ◽  
Omega 3 ◽  
Therapeutic Implications ◽  
Neuropsychiatric Diseases ◽  
Bidirectional Relationship ◽  
The Central Nervous System

Studies suggest that the bidirectional relationship existent between the gut microbiome (GM) and the central nervous system (CNS), or so-called the microbiome–gut–brain axis (MGBA), is involved in diverse neuropsychiatric diseases in children and adults. In pediatric age, most studies have focused on patients with autism. However, evidence of the role played by the MGBA in attention deficit/hyperactivity disorder (ADHD), the most common neurodevelopmental disorder in childhood, is still scanty and heterogeneous. This review aims to provide the current evidence on the functioning of the MGBA in pediatric patients with ADHD and the specific role of omega-3 polyunsaturated fatty acids (ω-3 PUFAs) in this interaction, as well as the potential of the GM as a therapeutic target for ADHD. We will explore: (1) the diverse communication pathways between the GM and the CNS; (2) changes in the GM composition in children and adolescents with ADHD and association with ADHD pathophysiology; (3) influence of the GM on the ω-3 PUFA imbalance characteristically found in ADHD; (4) interaction between the GM and circadian rhythm regulation, as sleep disorders are frequently comorbid with ADHD; (5) finally, we will evaluate the most recent studies on the use of probiotics in pediatric patients with ADHD.

scholarly journals The Innate Immune System in Alzheimer’s Disease

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Allal Boutajangout ◽  
Thomas Wisniewski
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Immune System ◽  
Innate Immune System ◽  
Late Onset ◽  
Innate Immune ◽  
Amyloid Angiopathy ◽  
Functional Variant ◽  
The Central Nervous System ◽  
Congophilic Amyloid Angiopathy

Alzheimer’s disease (AD) is the leading cause for dementia in the world. It is characterized by two biochemically distinct types of protein aggregates: amyloidβ(Aβ) peptide in the forms of parenchymal amyloid plaques and congophilic amyloid angiopathy (CAA) and aggregated tau protein in the form of intraneuronal neurofibrillary tangles (NFT). Several risk factors have been discovered that are associated with AD. The most well-known genetic risk factor for late-onset AD is apolipoprotein E4 (ApoE4) (Potter and Wisniewski (2012), and Verghese et al. (2011)). Recently, it has been reported by two groups independently that a rare functional variant (R47H) of TREM2 is associated with the late-onset risk of AD. TREM2 is expressed on myeloid cells including microglia, macrophages, and dendritic cells, as well as osteoclasts. Microglia are a major part of the innate immune system in the CNS and are also involved in stimulating adaptive immunity. Microglia express several Toll-like receptors (TLRs) and are the resident macrophages of the central nervous system (CNS). In this review, we will focus on the recent advances regarding the role of TREM2, as well as the effects of TLRs 4 and 9 on AD.

scholarly journals Glioblastoma Multiforme—A Look at the Past and a Glance at the Future

Pharmaceutics ◽  
2021 ◽  
Vol 13 (7) ◽  
pp. 1053
Author(s):  
Jasmine L. King ◽  
Soumya Rahima Benhabbour
Keyword(s):  
Glioblastoma Multiforme ◽  
Immune Surveillance ◽  
Standard Of Care ◽  
Current Standard ◽  
Comprehensive Overview ◽  
Therapeutic Delivery ◽  
The Past ◽  
Adults And Children ◽  
The Central Nervous System ◽  
Delivery Strategies

Gliomas are the most common type of brain tumor that occur in adults and children. Glioblastoma multiforme (GBM) is the most common, aggressive form of brain cancer in adults and is universally fatal. The current standard-of-care options for GBM include surgical resection, radiotherapy, and concomitant and/or adjuvant chemotherapy. One of the major challenges that impedes success of chemotherapy is the presence of the blood–brain barrier (BBB). Because of the tightly regulated BBB, immune surveillance in the central nervous system (CNS) is poor, contributing to unregulated glioma cell growth. This review gives a comprehensive overview of the latest advances in treatment of GBM with emphasis on the significant advances in immunotherapy and novel therapeutic delivery strategies to enhance treatment for GBM.

FAMILIAL NONHEMOLYTIC JAUNDICE: BILIRUBINOSIS AND ENCEPHALOPATHY

PEDIATRICS ◽  
1969 ◽  
Vol 43 (3) ◽  
pp. 365-376
Author(s):  
William A. Gardner ◽  
Bruce W. Konigsmark
Keyword(s):  
Nervous System ◽  
Dentate Nucleus ◽  
Late Onset ◽  
Neuronal Loss ◽  
Bile Pigment ◽  
Histopathological Changes ◽  
Older Patient ◽  
Patient Case ◽  
The Central Nervous System ◽  
Original Report

The unique pathological findings of a case of congenital familial hyperbilirubinemia are presented. The patient (Case 3 of Crigler and Najjar's original report), although severely jaundiced, had developed normally without evidence of neurological disease until 15½ years of age. He then developed a progressive neurological deterioration which was clinically similar to infantile kernicterus. At autopsy most of his organs showed extensive intra- and extracellular deposition of bile pigment, particularly the renal papillae, atrial endocardium, intestinal mucosa, Kupffer cells of the liver, and the perivascular adventitia. Although no pigment was found in the central nervous system, there was striking neuronal loss and gliosis of the thalamus. Moderate neuronal loss was found in the putamen, caudate nucleus, dentate nucleus, and red nuclei. No histopathological changes were found in the hippocampus or cerebral cortex. It is suggested that the patient suffered from a late onset of "kernicterus" with involvement, in this older patient, of regions of the nervous system somewhat different from those in infantile kernicterus.

scholarly journals Vesicular dysfunction and pathways to neurodegeneration

2021 ◽  
Author(s):  
Patrick A. Lewis
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Human Brain ◽  
Cell Viability ◽  
Case Studies ◽  
Neurological Diseases ◽  
The Past ◽  
Cellular Events ◽  
The Central Nervous System ◽  
Cellular Control

Abstract Cellular control of vesicle biology and trafficking is critical for cell viability, with disruption of these pathways within the cells of the central nervous system resulting in neurodegeneration and disease. The past two decades have provided important insights into both the genetic and biological links between vesicle trafficking and neurodegeneration. In this essay, the pathways that have emerged as being critical for neuronal survival in the human brain will be discussed – illustrating the diversity of proteins and cellular events with three molecular case studies drawn from different neurological diseases.

DUODENAL ULCER IN CHILDHOOD

PEDIATRICS ◽  
1970 ◽  
Vol 45 (2) ◽  
pp. 283-286
Author(s):  
Mary Loretta Rosenlund ◽  
C. Everett Koop
Keyword(s):  
Duodenal Ulcer ◽  
Common Symptom ◽  
Peptic Ulcers ◽  
Older Children ◽  
Duodenal Ulcers ◽  
X Ray ◽  
Ulcer Disease ◽  
The Past ◽  
Younger Age ◽  
The Central Nervous System

There has been some disagreement concerning the admittedly rare incidence of duodenal ulcer disease in children. Because of conflicting reports from other pediatrics centers, we have reviewed the records of all patients admitted to The Children's Hospital of Philadelphia in the past 20 years (1948 through 1967) in whom duodenal ulcer was diagnosed by x-ray, at operation or on postmortem examination (Table I). There were 27 children between the ages of 15 days and 15½ years, with well established duodenal ulcers. Six of these were female (22%). The age at presentation was scattered, but the majority were between 2 and 11 years of age. Presenting complaints were varied: gastrointestinal bleeding was most common in the younger age group, while abdominal pain, usually persistent and intermittent, was the most common symptom in the older children. The diagnosis of duodenal ulcer was made by x-ray examination in 22 patients and at operation in 2; and the ulcers were discovered only at autopsy in 3 children. All the ulcers were duodenal; the precise location was not specified in 9, but 11 were bulbar and 7 were postbulbar. Complications of the ulcer were noted in 9 patients. Perforation occurred in 7 patients, leading to death in 4 (all had disease of the central nervous system) and repeated bleeding in 2. Etiology of the ulcer disease was determined in 15 of the children, but the cause was unknown in 12. Our series is concerned only with duodenal ulcers which, admittedly, comprise the greatest percentage of peptic ulcers.

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