scholarly journals The application of shotgun metagenomics to the diagnosis of granulomatous amoebic encephalitis due to Balamuthia mandrillaris: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Shota Hirakata ◽  
Yusuke Sakiyama ◽  
Akiko Yoshimura ◽  
Mei Ikeda ◽  
Katsunori Takahata ◽  
...  
Keyword(s):  
Parietal Lobe ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Occipital Lobe ◽  
Japanese Woman ◽  
Unknown Etiology ◽  
Metagenomic Sequencing ◽  
Shotgun Metagenomics ◽  
Balamuthia Mandrillaris ◽  
Granulomatous Amoebic Encephalitis

Abstract Background Granulomatous amoebic encephalitis (GAE) is an infrequent and fatal infectious disease worldwide. Antemortem diagnosis in this condition is very difficult because clinical manifestations and neuroimaging are nonspecific. Case presentation A 60-year-old Japanese woman was admitted with a chief complaint of left homonymous hemianopsia. Brain-MRI showed extensive necrotizing lesions enhanced by gadolinium, in the right frontal lobe, right occipital lobe, and left parietal lobe. Epithelioid granulomas of unknown etiology were found in the biopsied brain specimens. Shotgun metagenomic sequencing using a next-generation sequencer detected DNA fragments of Balamuthia mandrillaris in the tissue specimens. The diagnosis of granulomatous amoebic encephalitis was confirmed using an amoeba-specific polymerase chain reaction and immunostaining on the biopsied tissues. Conclusions Shotgun metagenomics is useful for the diagnosis of central nervous system infections such as GAE wherein the pathogens are difficult to identify.

Balamuthia mandrillaris-Related Primary Amoebic Encephalitis in China Diagnosed by Next Generation Sequencing and a Review of the Literature

2019 ◽  
Author(s):  
Yinan Yang ◽  
Xiaobin Hu ◽  
Li Min ◽  
Xiangyu Dong ◽  
Yuanlin Guan
Keyword(s):  
Next Generation Sequencing ◽  
Inflammatory Diseases ◽  
Clinical Manifestations ◽  
Infectious Agent ◽  
Disease Diagnosis ◽  
Rapid Identification ◽  
Next Generation ◽  
Balamuthia Mandrillaris ◽  
Granulomatous Amoebic Encephalitis ◽  
Generation Sequencing

Abstract Background Encephalitis is caused by infection, immune mediated diseases, or primary inflammatory diseases. Of all the causative infectious pathogens, 90% are viruses or bacteria. Granulomatous amoebic encephalitis (GAE), caused by Balamuthia mandrillaris, is a rare but life-threatening disease. Diagnosis and therapy are frequently delayed due to the lack of specific clinical manifestations. Method A healthy 2 year old Chinese male patient initially presented with a nearly 2 month history of irregular fever. We present this case of granulomatous amoebic encephalitis caused by B. mandrillaris. Next generation sequencing of the patient’s cerebrospinal fluid (CSF) was performed to identify an infectious agent. Result The results of next generation sequencing of the CSF showed that most of the mapped reads belonged to Balamuthia mandrillaris. Conclusion Next generation sequencing (NGS) is an unbiased and rapid diagnostic tool. The NGS method can be used for the rapid identification of causative pathogens. The NGS method should be widely applied in clinical practice and help clinicians provide direction for the diagnosis of diseases, especially for rare and difficult cases.

scholarly journals Case Report: Multiple Seizures After a Diphenoxylate-Atropine Overdose in a Small Child

2021 ◽  
Vol 12 ◽  
Author(s):  
Chun-Hui Wang ◽  
Li-Jia Song ◽  
Yang Yang ◽  
Xiao-Peng Qu ◽  
Li Lan ◽  
...  
Keyword(s):  
Parietal Lobe ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Public Health Problem ◽  
Toxic Encephalopathy ◽  
Oral Drug ◽  
Major Public Health Problem ◽  
Accidental Injury ◽  
Drug Poisoning ◽  
Poisoning In Children

Poisoning is a type of accidental injury and it is considered a major public health problem worldwide. Oral drug poisoning in children is an important cause of accidental injury and even death. It is a common critical emergency in the field of pediatrics. Once a child unintentionally takes an overdose, regardless of whether it caused poisoning or not, they should be admitted to the hospital for emergency treatment. Acute poisoning in children most frequently occurs through the digestive tract. Drug poisoning can happen in children of all ages. In children younger than 1 year, drug poisoning is mostly caused by the parents during feeding, while in children aged 1–3 years, it predominantly occurs as a result of an accident. A case of diagnosis and treatment of a child with diphenoxylate-atropine poisoning is reported herein. The early manifestation of this child was acute toxic encephalopathy with clinical manifestations of a coma, convulsions, and respiratory depression. A brain MRI showed extensive damage to the bilateral caudate nucleus, lenticular nucleus, parietal lobe, precuneus lobe, and occipital lobe. Accidental administration of a large dose of diphenoxylate results in severe clinical symptoms and can cause obvious diffuse brain damage.

scholarly journals Posterior Reversible Encephalopathy Syndrome Caused by Fioricet (Butalbital-Acetaminophen-Caffeine)

2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Naomi Cret ◽  
Madalina Halalau ◽  
Shahab Rezvani ◽  
Alexandra Halalau
Keyword(s):  
Blood Pressure ◽  
Posterior Reversible Encephalopathy Syndrome ◽  
Parietal Lobe ◽  
Brain Mri ◽  
Occipital Lobe ◽  
Subcortical White Matter ◽  
Common Side Effect ◽  
Posterior Reversible Encephalopathy ◽  
Constant Pain ◽  
Reversible Encephalopathy

A common side effect of Fioricet (butalbital-acetaminophen-caffeine) is high blood pressure caused by the caffeine content. We report a case of a 54-year-old female who developed the worst headache of her life after taking 2 tablets of butalbital-acetaminophen-caffeine every six hours for three days before presenting to the emergency department, where her blood pressure was 178/87 mmHg. A brain MRI showed edema in the subcortical white matter of the right occipital lobe, right parietal lobe, and left occipital lobe. Posterior reversible encephalopathy syndrome (PRES) was diagnosed. The patient returned within the week with severe headaches, visual hallucinations, and a blood pressure of 150/80 mmHg. Repeat brain MRI showed slight improvement of edema. Her brain imaging studies completely normalized at 10 months after diagnosis. Although the patient received appropriate treatment, she was unable to make full recovery. Due to her inability to work and the constant pain, the patient continues to struggle with depression.

scholarly journals A patient with granulomatous amoebic encephalitis caused by Balamuthia mandrillaris survived with two excisions and medication

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Limei Peng ◽  
Quan Zhou ◽  
Yu Wu ◽  
Xiaoli Cao ◽  
Zili Lv ◽  
...  
Keyword(s):  
Brain Tissue ◽  
Parietal Lobe ◽  
Central Nervous System Infection ◽  
Continuous Treatment ◽  
Surgical Removal ◽  
Balamuthia Mandrillaris ◽  
Granulomatous Amoebic Encephalitis ◽  
Left Limb ◽  
Second Surgery ◽  
The Right

Abstract Background Granulomatous amoebic encephalitis (GAE) is a rare central nervous system infection caused by the Balamuthia mandrillaris or Acanthamoeba species. Diagnosis is challenging because of the non-specific clinical presentation, cerebrospinal fluid analysis, and radiological features. There is no effective treatment for GAE to date. Case presentation A 54-year-old male was admitted to hospital after experiencing acute onset of numbness and weakness on his left limb. Due to the initial consideration of intracranial tumor, surgical removal of the right parietal lesion was performed. However, the patient had a headache accompanied by diplopia, difficulty walking and a new lesion was found in the left occipital-parietal lobe two weeks after the first operation. High-throughput next-generation sequencing (NGS) detected the presence of high copy reads of the B. mandrillaris genome sequence in the patient’s blood, cerebral spinal fluid (CSF), and brain tissue. Pathological investigation of the brain tissue showed granulomatous changes and amoebic trophozoite scattered around blood vessels under high magnification. The patient was re-operated due to developing progressive confusion caused by subfalcine herniation of the left cerebral hemisphere. The lesions of the right parietal lobe were obviously decreasing in size after the first surgery, and the lesions of the left occipital lobe and the sunfalcine herniation didn’t ameliorate two months after the second surgery. The patient was transferred to local hospital for continuous treatment with sulfamethoxazole and azithromycin. After five months of the second surgery, the patient showed good recovery with mild headache. Conclusions This is the first report of a patient with B. mandrillaris encephalitis initially confirmed by NGS and have experienced two excisions, responding favorably to the combination of surgeries and medications. Early surgical resection of intracranial lesions combined with drug treatment may offer the chance of a cure.

scholarly journals Sneddon’s Syndrome as rare and underdiagnosed cause of stroke: about two cases / A Síndrome de Sneddon como causa rara e subdiagnosticada de AVC: cerca de dois casos

2021 ◽  
Vol 4 (6) ◽  
pp. 28039-28042
Author(s):  
Ana Carolina Santiago Ribeiro ◽  
Maria Carolina Correia Amorim Casal Fartes ◽  
Débora de Paula Silva ◽  
Ana Carolina Perota Tavares ◽  
Luana Cordeiro Amorim da Silva ◽  
...  
Keyword(s):  
Antiphospholipid Antibodies ◽  
Parietal Lobe ◽  
Systemic Vasculitis ◽  
Brain Mri ◽  
Occipital Lobe ◽  
Distal Region ◽  
Lumbosacral Spine ◽  
Vascular Events ◽  
Laboratory Findings ◽  
Diffusion Restriction

Case 1. Female, 27 years old, with migraine with aura. Use of combined contraceptive therapy. She presented visual and cutaneous complaints for eight months, using prednisone 60mg/day due to the hypothesis of systemic vasculitis. On examination, right temporal hemianopsia, normal fundus of the eye, Raynaud ‘s phenomenon with necrosis stitches in fingers and livedo were noted. Brain MRI with diffusion restriction in the left occipital lobe, hypersignal foci in the parietal lobe, and head of the left caudate nucleus. Reticular Livedo (RL) compatible biopsy. Anticardiolipin IgM (13.3 U/mL), ESR (47mm/h in the 1st hour and 52mm/h in the 2nd hour), and VDRL 1:8 reagents. Normal CSF. Initially treated with warfarin, she has been using rivaroxaban for two years, remaining asymptomatic. Case 2. Female, 39 years old, with a report of sudden dysarthria and right hemiparesis, with a previous episode of vertigo. A lumbosacral spine MRI was performed, presenting no alterations. Normal CSF. Antiphospholipid antibodies: Beta-2-glycoprotein I IgM 21 UR/mL and IgG 9 UR/mL, lupus anticoagulant 0.98, anticardiolipin IgG 9.4 GPL and IgM 31 MPL. Cranial MRI showed old ischemic gaps and hyperintense areas on T2/FLAIR with diffusion restriction affecting the left paramedian portion of the pons, related to acute stroke. Presence of livedo in the distal region of the limbs. In current use of warfarin 7.5mg/day, presenting remission of symptoms. Discussion: Sneddon Syndrome (SS) is a non-inflammatory thrombotic vasculopathy characterized by the concomitant presence of livedo reticularis and stroke. Neurological manifestations are present in up to 77% of cases. It is more prevalent in women between 20 and 42 years old. Treatment is aimed at preventing potentially serious, disabling, and even fatal new vascular events.  Final Comments: SS is a rare syndrome that probably results from a series of acquired or congenital hemostatic abnormalities that preferentially involve the cutaneous and cerebral vascular beds. Although it has no specific biomarker, there are reports associating SS with antiphospholipid antibodies and VDRL reactor. Clinical presentation, laboratory findings and skin biopsy associated with an excellent response to anticoagulant treatment were fundamental in the diagnostic elucidation.

COVID 19: REALS AND CHALLENGES AGAINST DOCTORS

2020 ◽  
Vol 2 (1) ◽  
pp. 65-87
Author(s):  
Zen Ahmad
Keyword(s):  
Virus Disease ◽  
Clinical Manifestations ◽  
World Health ◽  
Unknown Etiology ◽  
Wuhan City ◽  
Traditional Markets ◽  
Pneumonia Case ◽  
The World ◽  
New Type ◽  
Health Organization

Corona Virus Disease (Covid-19) is a contagious disease caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) which was discovered in December 2019 in China. This disease can cause clinical manifestations in the airway, lung and systemic. The World Health Organization (WHO) representative of China reported a pneumonia case with unknown etiology in Wuhan City, Hubei Province, China on December 31, 2019. The cause was identified as a new type of coronavirus on January 7, 2020 with an estimated source of the virus from traditional markets (seafood market). ) Wuhan city

scholarly journals Animal Models of Autosomal Recessive Parkinsonism

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 812
Author(s):  
Guendalina Bastioli ◽  
Maria Regoni ◽  
Federico Cazzaniga ◽  
Chiara Maria Giulia De Luca ◽  
Edoardo Bistaffa ◽  
...  
Keyword(s):  
Animal Models ◽  
Sleep Disturbances ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Cognitive Disorders ◽  
Dopamine Neurons ◽  
Substantia Nigra Pars Compacta ◽  
Current Status ◽  
Unknown Etiology ◽  
Neuron Death

Parkinson’s disease (PD) is the most common neurodegenerative movement disorder. The neuropathological hallmark of the disease is the loss of dopamine neurons of the substantia nigra pars compacta. The clinical manifestations of PD are bradykinesia, rigidity, resting tremors and postural instability. PD patients often display non-motor symptoms such as depression, anxiety, weakness, sleep disturbances and cognitive disorders. Although, in 90% of cases, PD has a sporadic onset of unknown etiology, highly penetrant rare genetic mutations in many genes have been linked with typical familial PD. Understanding the mechanisms behind the DA neuron death in these Mendelian forms may help to illuminate the pathogenesis of DA neuron degeneration in the more common forms of PD. A key step in the identification of the molecular pathways underlying DA neuron death, and in the development of therapeutic strategies, is the creation and characterization of animal models that faithfully recapitulate the human disease. In this review, we outline the current status of PD modeling using mouse, rat and non-mammalian models, focusing on animal models for autosomal recessive PD.

scholarly journals Gasperini Syndrome: A Case Report and Systematic Review and Proposing a New Definition

2020 ◽  
Vol 12 (3) ◽  
pp. 433-439
Author(s):  
Riwaj Bhagat ◽  
Siddharth Narayanan ◽  
Marwa Elnazeir ◽  
Thong Diep Pham ◽  
Robert Paul Friedland ◽  
...  
Keyword(s):  
Systematic Review ◽  
Brain Mri ◽  
Cranial Nerves ◽  
Clinical Manifestations ◽  
The Other ◽  
Neurological Deficits ◽  
Brainstem Stroke ◽  
Neurological Features ◽  
The Right ◽  
Core Features

Gasperini syndrome (GS), a rare brainstem syndrome, is featured by ipsilateral cranial nerves (CN) V–VIII dysfunction with contralateral hemibody hypoesthesia. While there have been 18 reported cases, the GS definition remains ambiguous. We report a new case and reviewed the clinical features of this syndrome from all published reports to propose a new definition. A 57-year-old man with acute brainstem stroke had right CN V–VIII and XII palsies, left body hypoesthesia and ataxia. Brain MRI showed an acute stroke in the right caudal pons and bilateral cerebellum. After a systematic review, we classified the clinical manifestations into core and associate features based on the frequencies of occurring neurological deficits. We propose that a definitive GS requires the presence of ipsilateral CN VI and VII palsies, plus one or more of the other three core features (ipsilateral CN V, VIII palsies and contralateral hemibody hemihypalgesia). Additionally, GS, similar to Wallenberg’s syndrome, represents a spectrum that can have other associated neurological features. The revised definition presented in this study may enlighten physicians with the immediate recognition of the syndrome and help improve clinical localization of the lesions and its management.

scholarly journals The contribution of epigenetics to the pathogenesis and gender dimorphism of systemic sclerosis: a comprehensive overview

2020 ◽  
Vol 12 ◽  
pp. 1759720X2091845 ◽  
Author(s):  
Bianca Saveria Fioretto ◽  
Irene Rosa ◽  
Eloisa Romano ◽  
Yukai Wang ◽  
Serena Guiducci ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
X Chromosome ◽  
Clinical Manifestations ◽  
Connective Tissue Disorder ◽  
Epigenetic Modifications ◽  
Unknown Etiology ◽  
Comprehensive Overview ◽  
Gender Dimorphism ◽  
Immune Related Genes ◽  
The Right

Systemic sclerosis (SSc) is a life-threatening connective tissue disorder of unknown etiology characterized by widespread vascular injury and dysfunction, impaired angiogenesis, immune dysregulation and progressive fibrosis of the skin and internal organs. Over the past few years, a new trend of investigations is increasingly reporting aberrant epigenetic modifications in genes related to the pathogenesis of SSc, suggesting that, besides genetics, epigenetics may play a pivotal role in disease development and clinical manifestations. Like many other autoimmune diseases, SSc presents a striking female predominance, and even if the reason for this gender imbalance has yet to be completely understood, it appears that the X chromosome, which contains many gender and immune-related genes, could play a role in such gender-biased prevalence. Besides a short summary of the genetic background of SSc, in this review we provide a comprehensive overview of the most recent insights into the epigenetic modifications which underlie the pathophysiology of SSc. A particular focus is given to genetic variations in genes located on the X chromosome as well as to the main X-linked epigenetic modifications that can influence SSc susceptibility and clinical phenotype. On the basis of the most recent advances, there is realistic hope that integrating epigenetic data with genomic, transcriptomic, proteomic and metabolomic analyses may provide in the future a better picture of their functional implications in SSc, paving the right way for a better understanding of disease pathogenesis and the development of innovative therapeutic approaches.

scholarly journals Anaplastic ependymoma

2021 ◽  
Vol 70 (2) ◽  
Author(s):  
Anatolii Litovcenco ◽  
◽  
Ala Bajurea ◽  
Maxim Sula ◽  
◽  
...  
Keyword(s):  
Intracranial Hypertension ◽  
Multimodal Treatment ◽  
Clinical Case ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Anaplastic Ependymoma

The authors present a clinical case of anaplastic ependymoma in a 6-year-old child with the clinical manifestations of intracranial hypertension syndrome with evolutionary hydrocephaly and cerebellar-atactic syndrome. CT and brain MRI investigation as well as histology were essential in establishing multimodal treatment. 11 references, 3 pictures.

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