Acute Neurological Manifestations of Porphyrias and its Types: A Systematic-Review

2020 ◽  
Vol 18 ◽  
Author(s):  
Enrico Affonso Barletta ◽  
Telmo Augusto Barba Belsuzarri ◽  
Augusto Ricardo Barba Urena ◽  
Eduardo Augusto Iunes
Keyword(s):  
Systematic Review ◽  
Clinical Presentation ◽  
Neurological Manifestations ◽  
Consciousness Disturbance ◽  
Life Threatening ◽  
Low Incidence ◽  
Treatment Onset ◽  
Acute Porphyrias ◽  
Specific Symptoms ◽  
Psychiatric Manifestations

: Acute porphyrias cause life-threatening attacks of neurovisceral non-specific symptoms, so this condition mimics many acute medical and psychiatric diseases. The disease is very misdiagnosed, probably due to its low incidence and nonpathognomonic symptoms, this delays the effective treatment onset. Early diagnosis and treatment improve highly the prognosis and can prevent the development of neuropathic manifestations. We assembled a systematic review, following the PRISMA guidelines and using Pubmed as our database. Our aim is to show some peculiarities among patients that present neurological manifestations in acute porphyria attack. We have obtained the patients age, sex, clinical presentation, neurological manifestations and porphyria type out of 16 patients. We also evaluated the time between symptoms onset and neurological manifestations. The average age was 28,4 ± 11,1; 50% of patients were male. AIP was the most prevalent porphyria type. The average time between symptoms onset and neurological manifestations was of 9,53 ± 11,6 days. Abdominal pain; nausea and vomiting and psychiatric manifestations were the most common symptoms preceding neurological attacks. Seizures and consciousness disturbance were the most prevalent findings within an attack. We are also presenting a case to illustrate how difficult this diagnosis can be.

scholarly journals Neurological complications in patients with SARS-CoV-2 infection: a systematic review

2020 ◽  
Vol 78 (5) ◽  
pp. 290-300 ◽  
Author(s):  
Renato Puppi MUNHOZ ◽  
José Luiz PEDROSO ◽  
Fábio Augusto NASCIMENTO ◽  
Sergio Monteiro de ALMEIDA ◽  
Orlando Graziani Povoas BARSOTTINI ◽  
...  
Keyword(s):  
Systematic Review ◽  
Literature Search ◽  
Neurological Complications ◽  
Cerebrovascular Diseases ◽  
Neurologic Manifestations ◽  
Neurological Manifestations ◽  
Systemic Complications ◽  
Life Threatening ◽  
Critical Patients ◽  
Specific Symptoms

ABSTRACT Background: As the COVID-19 pandemic unfolds worldwide, different forms of reports have described its neurologic manifestations. Objective: To review the literature on neurological complications of SARS-CoV-2 infection. Methods: Literature search performed following systematic reviews guidelines, using specific keywords based on the COVID-19 neurological complications described up to May 10th, 2020. Results: A total of 43 articles were selected, including data ranging from common, non-specific symptoms, such as hyposmia and myalgia, to more complex and life-threatening conditions, such as cerebrovascular diseases, encephalopathies, and Guillain-Barré syndrome. Conclusion: Recognition of neurological manifestations of SARS-CoV-2 should be emphasized despite the obvious challenges faced by clinicians caring for critical patients who are often sedated and presenting other concurrent systemic complications.

scholarly journals Giant Gastroduodenal Duplication Cyst with Juxta-Pancreatic Communication

2021 ◽  
Author(s):  
Jhon F Martinez-Paredes ◽  
Daniel G Plata-Diaz ◽  
Adriana Pinilla
Keyword(s):  
Congenital Malformations ◽  
Congenital Abnormalities ◽  
Clinical Presentation ◽  
Surgical Intervention ◽  
Duplication Cyst ◽  
Wide Range ◽  
Enteric Duplication ◽  
Low Incidence ◽  
Specific Symptoms ◽  
Early Surgical Intervention

Enteric duplication cysts are rare congenital malformations with a low incidence and there are only a few reports in the literature. Their clinical presentation varies according to the location and the type of duplication. Their overall prognosis is good if early surgical intervention is provided. We present a case of a giant gastroduodenal duplication cyst with a juxta-pancreatic communication in a 2-month-old boy who was successfully treated surgically. It is imperative to be aware of this rare congenital malformation that can present clinically with a wide range of non-specific symptoms that can cause significant morbidity and mortality if the treatment is delayed. Keywords: Pancreatic Duct, Congenital Abnormalities, Intestinal Diseases, Newborn.

An Overview of Dementias

2012 ◽  
Vol 21 (3) ◽  
pp. 75-84
Author(s):  
Venkata Vijaya K. Dalai ◽  
Jason E. Childress ◽  
Paul E Schulz
Keyword(s):  
Clinical Presentation ◽  
Treatment Options ◽  
Current Treatment ◽  
Great Variability ◽  
Health Concern ◽  
Public Health Concern ◽  
Life Threatening ◽  
The Common ◽  
Neurodegenerative Dementias ◽  
Made In

Dementia is a major public health concern that afflicts an estimated 24.3 million people worldwide. Great strides are being made in order to better diagnose, prevent, and treat these disorders. Dementia is associated with multiple complications, some of which can be life-threatening, such as dysphagia. There is great variability between dementias in terms of when dysphagia and other swallowing disorders occur. In order to prepare the reader for the other articles in this publication discussing swallowing issues in depth, the authors of this article will provide a brief overview of the prevalence, risk factors, pathogenesis, clinical presentation, diagnosis, current treatment options, and implications for eating for the common forms of neurodegenerative dementias.

Acute hepatic porphyrias for the neurologist: current concepts and perspectives

2021 ◽  
Author(s):  
Paulo Victor Sgobbi de Souza ◽  
Bruno de Mattos Lombardi Badia ◽  
Igor Braga Farias ◽  
Eduardo Augusto Gonçalves ◽  
Wladimir Bocca Vieira de Rezende Pinto ◽  
...  
Keyword(s):  
Central Nervous System Involvement ◽  
Therapeutic Interventions ◽  
Inborn Errors ◽  
Intravenous Glucose ◽  
Inherited Metabolic Disorders ◽  
Life Threatening ◽  
Acute Porphyrias ◽  
Diagnostic Work ◽  
Atypical Presentations ◽  
Interfering Rna

ABSTRACT Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias. Results: Acute neurovisceral attacks are the most common and life-threatening presentation of this group and are often considered the main clinical manifestation by clinicians during differential diagnosis and the start of proper diagnostic work-up for acute porphyrias. However, atypical presentations with central nervous system involvement, neuropsychiatric disturbances, and some subtypes with photosensitivity usually make the definite diagnosis difficult and late. Early therapeutic interventions are essential during emergency treatment and intercritical periods to avoid recurrent severe presentations. The availability of new disease-modifying therapeutic proposals based on small interfering RNA (siRNA)-based therapies, complementary to the classic intravenous glucose infusion and hemin-based treatments, emphasizes the importance of early diagnosis and genetic counseling of patients. Conclusions: This review article highlights the main biochemical, pathophysiological, clinical, and therapeutic aspects of acute hepatic porphyrias in clinical practice.

Correlation of MRI-detected vulnerable carotid plaques with clinical presentation: a systematic review and meta-analysis

2020 ◽  
Vol 64 (3) ◽  
Author(s):  
Seyed M. Seyedsaadat ◽  
Asim Rizvi ◽  
Muayad Alzuabi ◽  
Sagar B. Dugani ◽  
M. Hassan Murad ◽  
...  
Keyword(s):  
Systematic Review ◽  
Clinical Presentation ◽  
Meta Analysis ◽  
Carotid Plaques

Alteraciones sistémicas y metabólicas producidas por lesión medular

2019 ◽  
Vol 1 (1) ◽  
pp. 59-75
Author(s):  
Gabriel Guízar Sahagún
Keyword(s):  
Spinal Cord ◽  
Daily Living ◽  
Autonomic Function ◽  
Clinical Presentation ◽  
Scientific Literature ◽  
International Standards ◽  
Therapeutic Approaches ◽  
Cord Injury ◽  
Life Threatening ◽  
The Impact

Besides the well-known loss of motor and sensory capabilities, people with spinal cord injury (SCI) experience a broad range of systemic and metabolic abnormalities including, among others, dysfunction of cardiovascular, respiratory, gastrointestinal, urinary, and endocrine systems. These alterations are a significant challenge for patients with SCI because such disorders severely interfere with their daily living and can be potentially life-threatening. Most of these disorders are associated with impairment of regulation of the autonomic nervous system, arising from disruption of connections between higher brain centers and the spinal cord caudal to the injured zone. Thus, the higher and more complete the lesion, the greater the autonomic dysfunction and the severity of complications.This article summarizes the medical scientific literature on key systemic and metabolic alterations derived of SCI. It provides information primarily focused on the pathophysiology and clinical presentation of these disorders, as well as some guides to prevent and alleviate such complications. Due to the impact of these alterations, this topic must be a priority and diffuse to those involved with the care of people with SCI, including the patient himself/herself. We consider that any collaborative effort should be supported, like the development of international standards, to evaluate autonomic function after SCI, as well as the development of novel therapeutic approaches.

scholarly journals Enucleation of a giant symptomatic gastric lipoma, a safe surgical approach

2021 ◽  
Vol 2021 (3) ◽  
Author(s):  
Rafaela Parreira ◽  
Tiago Rama ◽  
Teresa Eloi ◽  
Vítor Carneiro ◽  
Maria Inês Leite
Keyword(s):  
Computed Tomography ◽  
Abdominal Pain ◽  
Clinical Presentation ◽  
Pyloric Obstruction ◽  
Asymptomatic Patients ◽  
Recurrent Vomiting ◽  
Low Incidence ◽  
Diagnostic Modalities ◽  
Benign Tumours ◽  
Gastric Lipoma

Abstract Gastric lipomas are rare, representing 2–3% of all benign tumours of the stomach. Most of these stomach neoplasms are small and detected incidentally during endoscopic or radiology evaluations. Computed tomography is highly specific imaging for lipoma diagnosis. Endoscopy and endoscopic ultrasound are other important diagnostic modalities to confirm the diagnosis. Identifying typical features can avoid biopsy or surgery in asymptomatic patients. In patients with larger lesions, usually more than 2 cm, clinical presentation may encompass haemorrhage, abdominal pain, pyloric obstruction and dyspepsia. As a result of its extreme low incidence, treatment is not standardized, though it is widely accepted that a symptomatic tumour mandates resection. Here, we present the case of a 60-year-old female presenting with abdominal pain and recurrent vomiting due to a giant gastric lipoma (80 × 35 × 35 mm). The patient underwent laparotomy and an enucleation was performed.

scholarly journals Effects of non-invasive brain stimulation in children and young people with psychiatric disorders: a protocol for a systematic review

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Yael D. Lewis ◽  
Lucy Gallop ◽  
Iain C. Campbell ◽  
Ulrike Schmidt
Keyword(s):  
Systematic Review ◽  
Young People ◽  
Psychiatric Disorders ◽  
Brain Stimulation ◽  
Grey Literature ◽  
Significant Proportion ◽  
Clinical Effects ◽  
Children And Young People ◽  
Non Invasive ◽  
Specific Symptoms

Abstract Background Most psychiatric disorders have their onset in childhood or adolescence, and if not fully treated have the potential for causing life-long psycho-social and physical sequelae. Effective psychotherapeutic and medication treatments exist, but a significant proportion of children and young people do not make a full recovery. Thus, novel, safe, brain-based alternatives or adjuncts to conventional treatments are needed. Repetitive transcranial magnetic stimulation (rTMS) and transcranial direct current stimulation (tDCS) are non-invasive brain stimulation (NIBS) techniques which have shown clinical benefits in adult psychiatric conditions. However, in children and young people their efficacy is not well established. The objective of this study will be to systematically evaluate the evidence on clinical effects of NIBS in children and young people with psychiatric disorders, assessing disorder-specific symptoms, mood and neurocognitive functions. Methods We designed and registered a study protocol for a systematic review. We will include randomised and non-randomised controlled trials and observational studies (e.g. cohort, case-control, case series) assessing the effects of NIBS in children and young people (aged ≤ 24 years old) for psychiatric disorders. The primary outcome will be reduction of disorder-specific symptoms. Secondary outcomes will include effects on mood and cognition. A comprehensive search from database inception onwards will be conducted in MEDLINE, EMBASE and PsycINFO. Grey literature will be identified through searching multiple clinical trial registries. Two reviewers will independently screen all citations, full-text articles and abstract data. The methodological quality of the studies will be appraised using appropriate tools. We will provide a narrative synthesis of the evidence and according to heterogeneity will conduct an appropriate meta-analysis. Additional analyses will be conducted to explore the potential sources of heterogeneity. Discussion This systematic review will provide a broad and comprehensive evaluation of the evidence on clinical effects of NIBS in children and young people with psychiatric disorders. Our findings will be reported according to the PRISMA guidelines and will be of interest to multiple audiences (including patients, researchers, healthcare professionals and policy-makers). Results will be published in a peer-reviewed journal. Systematic review registration PROSPERO CRD42019158957

scholarly journals Application of ultrasound-guided intranodal lymphangiography and embolisation in cancer patients with postoperative lymphatic leakage

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Xingwei Sun ◽  
Feng Zhou ◽  
Xuming Bai ◽  
Qiang Yuan ◽  
Mingqing Zhang ◽  
...  
Keyword(s):  
Cancer Patients ◽  
Operative Time ◽  
Length Of Hospital Stay ◽  
Chylous Ascites ◽  
Pelvic Surgery ◽  
Ultrasound Guided ◽  
Technical Success Rate ◽  
Life Threatening ◽  
Low Incidence ◽  
Intranodal Lymphangiography

Abstract Background Traumatic lymphatic leakage is a rare but potentially life-threatening complication. The purpose of this study was to introduce ultrasound-guided intranodal lymphangiography and embolisation techniques for postoperative lymphatic leakage in patients with cancer. Methods From January 2018 through June 2020, seven cancer patients (three males, four females, aged 59–75 years [mean 67.57 ± 6.11 years]) developed lymphatic leakage after abdominal or pelvic surgery, with drainage volumes ranging from 550 to 1200 mL per day. The procedure and follow-up of ultrasound-guided intranodal lymphangiography and embolisation were recorded. This study retrospectively analysed the technical success rate, operative time, length of hospital stay, clinical efficacy, and complications. Results The operation was technically successful in all patients. Angiography revealed leakage, and embolisation was performed in all seven patients (7/7, 100%). The operative time of angiography and embolisation was 41 to 68 min, with an average time of 53.29 ± 10.27 min. The mean length of stay was 3.51 ± 1.13 days. Lymph node embolisation was clinically successful in five patients (5/7, 71.43%), who had a significant reduction in or disappearance of chylous ascites. The other two patients received surgical treatment 2 weeks later due to poor results after embolisation. All patients were followed for 2 weeks. No serious complications or only minor complications were found in all the patients. Conclusions Ultrasound-guided intranodal lymphangiography and embolisation were well tolerated by the patients, who experienced a low incidence of complications. Early intervention is recommended for cancer patients with postoperative lymphatic leakage.

scholarly journals Clinical presentation of strokes confined to the insula: a systematic review of literature

2021 ◽  
Author(s):  
Vincenzo Di Stefano ◽  
Maria Vittoria De Angelis ◽  
Chiara Montemitro ◽  
Mirella Russo ◽  
Claudia Carrarini ◽  
...  
Keyword(s):  
Systematic Review ◽  
Clinical Presentation ◽  
Insular Cortex ◽  
Affective Processing ◽  
Appropriate Treatment ◽  
Insula Cortex ◽  
Atypical Presentations ◽  
High Level ◽  
To Receive ◽  
Insular Region

Abstract Background and purpose The insular cortex serves a wide variety of functions in humans, ranging from sensory and affective processing to high-level cognition. Hence, insular dysfunction may result in several different presentations. Ischemic strokes limited to the insular territory are rare and deserve a better characterization, to be quickly recognized and to receive the appropriate treatment (e.g. thrombolysis). Methods We reviewed studies on patients with a first-ever acute stroke restricted to the insula. We searched in the Medline database the keywords “insular stroke” and “insular infarction”, to identify previously published cases. Afterwards, the results were divided depending on the specific insular region affected by the stroke: anterior insular cortex (AIC), posterior insular cortex (PIC) or total insula cortex (TIC). Finally, a review of the clinical correlates associated with each region was performed. Results We identified 25 reports including a total of 49 patients (59.7 ± 15.5 years, 48% male) from systematic review of the literature. The most common clinical phenotypes were motor and somatosensory deficits, dysarthria, aphasia and a vestibular-like syndrome. Atypical presentations were also common and included dysphagia, awareness deficits, gustatory disturbances, dysautonomia, neuropsychiatric or auditory disturbances and headache. Conclusions The clinical presentation of insular strokes is heterogeneous; however, an insular stroke should be suspected when vestibular-like, somatosensory, speech or language disturbances are combined in the same patient. Further studies are needed to improve our understanding of more atypical presentations.

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