scholarly journals P.006 Keeping neurosarcoidosis on the differential

2016 ◽  
Vol 43 (S2) ◽  
pp. S22-S23
Author(s):  
E Spinelli ◽  
G Blevins ◽  
J Mailo ◽  
L Atilano ◽  
H Leonard ◽  
...  
Keyword(s):  
Correct Diagnosis ◽  
Signs And Symptoms ◽  
Lymphocytic Infiltration ◽  
Current Treatment ◽  
Cns Involvement ◽  
Normal Limits ◽  
Pontine Lesion ◽  
Initial Imaging ◽  
High Index Of Suspicion ◽  
The Brain

Background: Sarcoidosis is a multiorgan autoimmune disease characterized by the presence of non-caseating granulomas. The diagnosis can be difficult, particularly with central nervous system (CNS) involvement, and pathology outside of the CNS has to be carefully evaluated. Early and correct diagnosis is crucial for appropriate management particularly in children where sarcoidosis and neurosarcoidosis are rare. Methods: We describe a 16 year old previously healthy boy who presented with progressive pyramidal neurological signs and symptoms localizable primarily to the brain stem. Results: Initial imaging revealed striking brainstem, as well as cerebral, cerebellar and spinal cord perivascular enhancement. Lung involvement was subclinical with a miliary pattern on chest imaging and needle biopsy revealed an interstitial lymphocytic infiltration. Extensive serum and CSF rheumatological, autoimmune and infectious investigations were noncontributory. Serum ACE levels were at first within normal limits. Steroid treatment stabilized symptoms and perhaps coincidentally, separate rituximab treatments were followed within days by vertigo (with a new pontine lesion) or a respiratory decompensation. A wedge lung biopsy revealed granulomatosis. Current treatment consists of mycophenolate, methotrexate with a prednisone wean. Conclusions: This case report reinforces the varied manifestations and mimics of sarcoidosis (including CLIPPERS) and highlights the need for a high index of suspicion despite apparently negative investigations.

scholarly journals Distinctive Acellular Lipid Emboli in Hemoglobin SC Disease following Bone Marrow Infarction with Parvovirus Infection

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Danielle M. Graff ◽  
Erin Owen ◽  
Robert Bendon ◽  
Salvatore Bertolone ◽  
Ashok Raj
Keyword(s):  
Correct Diagnosis ◽  
Brain Lesion ◽  
Signs And Symptoms ◽  
Fat Embolism ◽  
Sickle Cells ◽  
Embolism Syndrome ◽  
Pain Crisis ◽  
High Index Of Suspicion ◽  
The Brain ◽  
Hemoglobin Sc Disease

An adolescent with mild hemoglobin SC disease presented with pelvic pain with subsequent respiratory and neurologic deterioration, which led to ultimately death. The autopsy demonstrated acellular fat emboli particularly in the lung and brain. There was marrow necrosis in the lumbar spine with aggregated sickle cells and positive parvovirus immunostaining. The brain lesion both grossly and microscopically presented a distinct pathology of acellular fat emboli that led to the correct diagnosis of this increasingly recognized association of sickle hemoglobinopathies with fat embolism syndrome (FES). A clinical diagnosis of FES is difficult to confirm in many patients with sickle hemoglobinopathy presenting with pain crisis because of concurrent illness. However, this case report highlights the need for a thorough knowledge of the signs and symptoms of the syndrome and a high index of suspicion for the diagnosis to be made premortem.

“Where is Dementia?” A Systematic Literature Review Exploring Neuroanatomical Aspects of Dementia

2017 ◽  
Vol 2 (15) ◽  
pp. 9-23 ◽  
Author(s):  
Chorong Oh ◽  
Leonard LaPointe
Keyword(s):  
English Language ◽  
Signs And Symptoms ◽  
Behavioral Symptoms ◽  
Journal Articles ◽  
People With Dementia ◽  
Different Types ◽  
Precise Diagnosis ◽  
Physical Changes ◽  
The Brain ◽  
Language Literature

Dementia is a condition caused by and associated with separate physical changes in the brain. The signs and symptoms of dementia are very similar across the diverse types, and it is difficult to diagnose the category by behavioral symptoms alone. Diagnostic criteria have relied on a constellation of signs and symptoms, but it is critical to understand the neuroanatomical differences among the dementias for a more precise diagnosis and subsequent management. With this regard, this review aims to explore the neuroanatomical aspects of dementia to better understand the nature of distinctive subtypes, signs, and symptoms. This is a review of English language literature published from 1996 to the present day of peer-reviewed academic and medical journal articles that report on older people with dementia. This review examines typical neuroanatomical aspects of dementia and reinforces the importance of a thorough understanding of the neuroanatomical characteristics of the different types of dementia and the differential diagnosis of them.

Treatment of Anderson-Fabry Disease

2020 ◽  
Vol 26 (40) ◽  
pp. 5089-5099 ◽  
Author(s):  
Irene Simonetta ◽  
Antonino Tuttolomondo ◽  
Mario Daidone ◽  
Salvatore Miceli ◽  
Antonio Pinto
Keyword(s):  
Fabry Disease ◽  
Treatment Strategies ◽  
Signs And Symptoms ◽  
Current Treatment ◽  
Viral Gene ◽  
Pharmacological Chaperone ◽  
Enzyme Replacement ◽  
Cell Based Therapy ◽  
Organ Manifestations ◽  
Alpha Galactosidase

: Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis, angiokeratomas, signs and symptoms of cardiac, renal, cerebrovascular involvement). Pathogenic mutations lead to a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). In the presence of high clinical suspicion, a careful physical examination and specific laboratory tests are required. Finally, the diagnosis of Fabry’s disease is confirmed by the demonstration of the absence of or reduced alpha-galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females. Measurement of the biomarkers Gb3 and Lyso Gb3 in biological specimens may facilitate diagnosis. The current treatment of Anderson-Fabry disease is represented by enzyme replacement therapy (ERT) and oral pharmacological chaperone. Future treatments are based on new strategic approaches such as stem cell-based therapy, pharmacological approaches chaperones, mRNA therapy, and viral gene therapy. : This review outlines the current therapeutic approaches and emerging treatment strategies for Anderson-Fabry disease.

Ultrasound diagnosis of dissecting thoracic aortic aneurysms: procedure with a handheld device and a video-illustrated case

2021 ◽  
Vol 51 (1) ◽  
pp. 10-15
Author(s):  
Kenneth V Iserson ◽  
Sri Devi Jagjit ◽  
Balram Doodnauth
Keyword(s):  
Aortic Dissection ◽  
Correct Diagnosis ◽  
Signs And Symptoms ◽  
Aortic Aneurysms ◽  
Thoracic Aortic Aneurysms ◽  
Handheld Device ◽  
Thoracic Aortic Dissection ◽  
Threatening Condition ◽  
Life Threatening ◽  
Handheld Ultrasound

Acute thoracic aortic dissection is an uncommon, although not rare, life-threatening condition. With protean signs and symptoms that often suggest more common cardiac or pulmonary conditions, it can be difficult to diagnose. Ultrasound has proven useful in making the correct diagnosis. This case demonstrates that training gained using standard ultrasound machines can be easily and successfully adapted to newer handheld ultrasound devices. The examination technique using the handheld device is illustrated with photos and a video.

scholarly journals Molecular mechanisms of cell death in neurological diseases

2021 ◽  
Author(s):  
Diane Moujalled ◽  
Andreas Strasser ◽  
Jeffrey R. Liddell
Keyword(s):  
Cell Death ◽  
Neurodegenerative Diseases ◽  
Molecular Mechanisms ◽  
Neuronal Development ◽  
Neurological Diseases ◽  
Treatment Strategies ◽  
Current Treatment ◽  
Response To Therapy ◽  
Signalling Cascades ◽  
The Brain

AbstractTightly orchestrated programmed cell death (PCD) signalling events occur during normal neuronal development in a spatially and temporally restricted manner to establish the neural architecture and shaping the CNS. Abnormalities in PCD signalling cascades, such as apoptosis, necroptosis, pyroptosis, ferroptosis, and cell death associated with autophagy as well as in unprogrammed necrosis can be observed in the pathogenesis of various neurological diseases. These cell deaths can be activated in response to various forms of cellular stress (exerted by intracellular or extracellular stimuli) and inflammatory processes. Aberrant activation of PCD pathways is a common feature in neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS), Alzheimer’s disease, Parkinson’s disease, and Huntington’s disease, resulting in unwanted loss of neuronal cells and function. Conversely, inactivation of PCD is thought to contribute to the development of brain cancers and to impact their response to therapy. For many neurodegenerative diseases and brain cancers current treatment strategies have only modest effect, engendering the need for investigations into the origins of these diseases. With many diseases of the brain displaying aberrations in PCD pathways, it appears that agents that can either inhibit or induce PCD may be critical components of future therapeutic strategies. The development of such therapies will have to be guided by preclinical studies in animal models that faithfully mimic the human disease. In this review, we briefly describe PCD and unprogrammed cell death processes and the roles they play in contributing to neurodegenerative diseases or tumorigenesis in the brain. We also discuss the interplay between distinct cell death signalling cascades and disease pathogenesis and describe pharmacological agents targeting key players in the cell death signalling pathways that have progressed through to clinical trials.

scholarly journals The mortal cause of sudden ECG changes in patients with chronic aortic insufficiency: Aortic dissection

2019 ◽  
Vol 11 (1) ◽  
pp. 68-70
Author(s):  
Mahmut Yesin ◽  
Turgut Karabağ ◽  
Macit Kalçık ◽  
Süleyman Karakoyun ◽  
Metin Çağdaş ◽  
...  
Keyword(s):  
Risk Factors ◽  
Aortic Dissection ◽  
Signs And Symptoms ◽  
Aortic Insufficiency ◽  
Ecg Changes ◽  
St Segment Elevation ◽  
T Wave ◽  
Wave Inversion ◽  
St Segment ◽  
High Index Of Suspicion

The symptoms of aortic dissection (AD) may be highly variable and may mimic other much common conditions. Thus, a high index of suspicion should be maintaned, especially when the risk factors for AD are present or signs and symptoms suggest this possibility. However, sometimes AD may be asymptomatic or progression may be subclinical. Various electrocardiographical (ECG) changes may be seen in AD patients such as ST segment elevation in aVR as well as ST segment depression and T-wave inversion. In this case report, we reported a patient with acute AD whose ECG revealed ST segment elevation in aVR lead in addition to diffuse ST segment depression in other leads.

Mycobacterium Fortuitum Infections of the Hand

1992 ◽  
Vol 17 (6) ◽  
pp. 675-677 ◽  
Author(s):  
F. K. IP ◽  
S. P. CHOW
Keyword(s):  
Correct Diagnosis ◽  
High Index ◽  
Mycobacterium Fortuitum ◽  
High Index Of Suspicion

Five cases are reported of infection due to Mycobactenum fortuitum involving the hand following contaminated injection or traumatic wounds. Synovectomy, debridement, or amputation together with prolonged chemotherapy using kanamycin or amikacin were required. Doxycycline and sulphamethoxasole also seemed to be the effective antibiotics for this organism. A high index of suspicion is important in order to obtain the correct diagnosis.

SUBDURAL FLUID AS A CONSEQUENCE OF PNEUMOENCEPHALOGRAPHY

PEDIATRICS ◽  
1950 ◽  
Vol 5 (3) ◽  
pp. 375-389
Author(s):  
HONOR V. SMITH ◽  
BRONSON CROTHERS
Keyword(s):  
Cerebral Palsy ◽  
Subdural Hematoma ◽  
Cerebral Atrophy ◽  
Mental Deficiency ◽  
Signs And Symptoms ◽  
Brain Lesions ◽  
Subdural Space ◽  
Suitable Treatment ◽  
Superior Longitudinal Sinus ◽  
The Brain

When lumbar or cisternal pneumoencephalography is carried out on children with nonprogressive brain lesions causing mental deficiency, cerebral palsy or epilepsy, air is seen in the subdural space in at least a third of cases. This proportion is much larger in children 2 years of age or under. The roentgenographic appearances of subdural air are described and the importance of not attributing these appearances to cerebral atrophy or hypoplasia is emphasized. In approximately one third of cases in which air enters the subdural space, that is, in from 10% to 15% of all cases, recovery from pneumoencephalography is delayed by the development of signs and symptoms suggesting a rise in intracranial pressure. In such cases fluid can usually be found by needling the subdural space. Typically this fluid is characteristic of that found in subdural hematoma. There is no evidence that such a collection of fluid was present before pneumoencephalography. It is therefore suggested that as air enters the subdural space and the brain falls away from the dura, vessels may be torn as they cross this space to reach the superior longitudinal sinus, with the formation of what may be termed subdural hematoma artefacta. Although the incidence of this complication is moderately high, its effects are seldom serious, provided the situation is appreciated and suitable treatment given. The length of time the child spends in the hospital is, however, often greatly prolonged and occasionally operation proves necessary for removal of a subdural membrane. Since the subdural hematoma is an artefact occurring in the course of treatment, its removal does not influence the ultimate prognosis.

TAMI-01. BRAIN METASTASES: CURRENT LITERATURE REVIEW

2021 ◽  
Vol 23 (Supplement_6) ◽  
pp. vi198-vi198
Author(s):  
Ruchi Raval ◽  
Aadi Pandya ◽  
Jaspreet Behl ◽  
Sumul Raval
Keyword(s):  
Literature Review ◽  
Brain Metastases ◽  
Current Literature ◽  
Anticoagulation Therapy ◽  
Signs And Symptoms ◽  
The Body ◽  
Definitive Treatment ◽  
Cognitive Changes ◽  
Cancer Breast ◽  
The Brain

Abstract PURPOSE As more information is gathered about brain metastases, it still remains that the current prognosis of brain metastases is very poor. Due to this, it is imperative that physicians are aware of the most important components regarding brain metastases. This literature review will encompass the most current literature in order to highlight the most crucial information. METHODS All mentioned studies and literature reviews cited in the paper were obtained through various sites, and were published between 1996 and 2017. The main components that were required from the papers reviewed included where in the body the brain metastases originated from, where in the brain they tended to spread to, what the signs and symptoms typical of patients with brain metastases are, and what the options are in terms of treatment. RESULTS Using the results from a variety of studies performed within the past three decades, it is apparent that brain metastases most commonly originate from, in order of increasing frequency, lung cancer, breast cancer, melanoma, and colorectal cancer. In addition, it is reaffirmed that the magnetic resonance imaging (MRI) is the best diagnostic tool to be used when dealing with brain metastases. The most frequent signs and symptoms of a brain metastases include cognitive changes, headaches, weakness, and seizures. Finally, supportive treatment includes use of corticosteroids, antiepileptic drugs (AEDs), and anticoagulation therapy. Definitive treatment for brain metastases varies based on size, location, and prevalence in the brain, but the most effective options include chemotherapy, radiation therapy, and surgery. CONCLUSIONS The study’s results confirm the need for more research to be done regarding brain metastases, and better options to increase the survival of patients.

LUNG FUNCTION AND PATHOLOGY IN A PREMATURE INFANT WITH CHRONIC PULMONARY INSUFFICIENCY (WILSON-MIKITY SYNDROME)

PEDIATRICS ◽  
1967 ◽  
Vol 40 (6) ◽  
pp. 962-974
Author(s):  
W. A. Aherne ◽  
K. W. Cross ◽  
E. N. Hey ◽  
Sheila R. Lewis
Keyword(s):  
Lung Function ◽  
Premature Infant ◽  
Lung Biopsy ◽  
Signs And Symptoms ◽  
Lung Compliance ◽  
Alveolar Ventilation ◽  
Pulmonary Insufficiency ◽  
Normal Limits ◽  
Dynamic Lung Compliance ◽  
Symptoms And Signs

Detailed lung function studies at the age of 8 months and 1 year are reported for an infant who weighed 992 gm at birth and who developed chronic progressive pulmonary insufficiency 2 weeks after birth. The symptoms and signs were similar to those described by Wilson and Mikity in 1960. A confirmatory lung biopsy was obtained when the child was 11 months old. Dynamic lung "compliance" was very significantly reduced while a static estimate of lung compliance was within normal limits. These and other lung function findings are interpreted as indicating that uneven alveolar ventilation was the probable functional basis for all the signs and symptoms observed.

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