scholarly journals A Case of Rhizomelic Chondrodysplasia Punctata in Newborn

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Nalan Karabayır ◽  
Gonca Keskindemirci ◽  
Erdal Adal ◽  
Orhan Korkmaz
Keyword(s):  
Soft Tissues ◽  
Clinical Symptoms ◽  
Current Knowledge ◽  
Chondrodysplasia Punctata ◽  
Long Bones ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Cervical Spinal Stenosis ◽  
Brain And Spinal Cord ◽  
The Brain ◽  
Severe Growth

Rhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The main features of the disease are shortening of the proximal long bones, punctate calcifications located in the epiphyses of long bones and in soft tissues around joints and vertebral column, vertebral clefting, dysmorphic face, and severe growth retardation, whereas cervical spinal stenosis may also rarely be present. Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide management decisions. We report the newborn diagnosed as CDP with cervical stenosis. Our aim is to discuss current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases associated with CDP.

scholarly journals Plectin in the Central Nervous System and a Putative Role in Brain Astrocytes

Cells ◽  
2021 ◽  
Vol 10 (9) ◽  
pp. 2353
Author(s):  
Maja Potokar ◽  
Jernej Jorgačevski
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Current Knowledge ◽  
Cell Types ◽  
Cellular Proteins ◽  
Bidirectional Communication ◽  
The Central Nervous System ◽  
Brain And Spinal Cord ◽  
The Brain

Plectin, a high-molecular-mass cytolinker, is abundantly expressed in the central nervous system (CNS). Currently, a limited amount of data about plectin in the CNS prevents us from seeing the complete picture of how plectin affects the functioning of the CNS as a whole. Yet, by analogy to its role in other tissues, it is anticipated that, in the CNS, plectin also functions as the key cytoskeleton interlinking molecule. Thus, it is likely involved in signalling processes, thereby affecting numerous fundamental functions in the brain and spinal cord. Versatile direct and indirect interactions of plectin with cytoskeletal filaments and enzymes in the cells of the CNS in normal physiological and in pathologic conditions remain to be fully addressed. Several pathologies of the CNS related to plectin have been discovered in patients with plectinopathies. However, in view of plectin as an integrator of a cohesive mesh of cellular proteins, it is important that the role of plectin is also considered in other CNS pathologies. This review summarizes the current knowledge of plectin in the CNS, focusing on plectin isoforms that have been detected in the CNS, along with its expression profile and distribution alongside diverse cytoskeleton filaments in CNS cell types. Considering that the bidirectional communication between neurons and glial cells, especially astrocytes, is crucial for proper functioning of the CNS, we place particular emphasis on the known roles of plectin in neurons, and we propose possible roles of plectin in astrocytes.

scholarly journals The interperiosteodural concept applied to the jugular foramen and its compartmentalization

2018 ◽  
Vol 129 (3) ◽  
pp. 770-778 ◽  
Author(s):  
Florian Bernard ◽  
Ilyess Zemmoura ◽  
Jean Philippe Cottier ◽  
Henri-Dominique Fournier ◽  
Louis-Marie Terrier ◽  
...  
Keyword(s):  
Soft Tissues ◽  
Venous Blood ◽  
Cranial Nerves ◽  
Jugular Foramen ◽  
Sigmoid Sinus ◽  
Superior Approach ◽  
Lower Cranial Nerves ◽  
Spinal Epidural ◽  
Brain And Spinal Cord ◽  
The Brain

OBJECTIVEThe dura mater is made of 2 layers: the endosteal layer (outer layer), which is firmly attached to the bone, and the meningeal layer (inner layer), which directly covers the brain and spinal cord. These 2 dural layers join together in most parts of the skull base and cranial convexity, and separate into the orbital and perisellar compartments or into the spinal epidural space to form the extradural neural axis compartment (EDNAC). The EDNAC contains fat and/or venous blood. The aim of this dissection study was to anatomically verify the concept of the EDNAC by focusing on the dural layers surrounding the jugular foramen area.METHODSThe authors injected 10 cadaveric heads (20 jugular foramina) with colored latex and fixed them in formalin. The brainstem and cerebellum of 7 specimens were cautiously removed to allow a superior approach to the jugular foramen. Special attention was paid to the meningeal architecture of the jugular foramen, the petrosal inferior sinus and its venous confluence with the sigmoid sinus, and the glossopharyngeal, vagus, and accessory nerves. The 3 remaining heads were bleached with a 20% hydrogen peroxide solution. This procedure produced softening of the bone without modifying the fixed soft tissues, thus permitting coronal and axial dissections.RESULTSThe EDNAC of the jugular foramen was limited by the endosteal and meningeal layers and contained venous blood. These 2 dural layers joined together at the level of the petrous and occipital bones and separated at the inferior petrosal sinus and the sigmoid sinus, and around the lower cranial nerves, to form the EDNAC. Study of the dural sheaths allowed the authors to describe an original compartmentalization of the jugular foramen in 3 parts: 2 neural compartments—glossopharyngeal and vagal—and the interperiosteodural compartment.CONCLUSIONSIn this dissection study, the existence of the EDNAC concept in the jugular foramen was demonstrated, leading to the proposal of a novel 3-part compartmentalization, challenging the classical 2-part compartmentalization, of the jugular foramen.

scholarly journals Cat scratch disease as zoonosis: Pathogenesis, clinical symptoms, diagnosis.

2018 ◽  
Vol 74 (1) ◽  
pp. 5997-2018
Author(s):  
ŁUKASZ MAZUREK ◽  
STANISŁAW WINIARCZYK ◽  
ŁUKASZ ADASZEK
Keyword(s):  
Clinical Symptoms ◽  
Bartonella Henselae ◽  
Unknown Origin ◽  
Skin Lesions ◽  
Cat Scratch Disease ◽  
Serological Tests ◽  
Antibody Titres ◽  
Polymerase Chain ◽  
Brain And Spinal Cord ◽  
The Brain

The cat scratch disease in humans is caused by the bacteria Bartonella henselae. The disease can take many different forms: from asymptomatic cases, cases of skin lesions, fever of unknown origin, enlargement of lymph nodes, ophthalmologic disorders, to severe cases involving inflammation of the brain and spinal cord or endocarditis. The reservoir of B. henselae for humans are domestic animals, especially cats. The diagnosis of the disease is based on data from the anamnesis, the patient’s confirmed exposure to cats, and the results of serological tests showing an increase in antibody titres for B. henselae. The disease can also be confirmed by positive results of the polymerase chain reaction (PCR). No vaccines against bartonellosis are available. The most important in preventing the disease is to maintain appropriate hygiene in contact with cats and dogs, and to eradicate the vectors of Bartonella, such as fleas..

scholarly journals Current knowledge and challenges associated with targeted delivery of neurotrophic factors into the central nervous system: focus on available approaches

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Gozal Bahlakeh ◽  
Reza Rahbarghazi ◽  
Daruosh Mohammadnejad ◽  
Ali Abedelahi ◽  
Mohammad Karimipour
Keyword(s):  
Targeted Delivery ◽  
Viral Vectors ◽  
Current Knowledge ◽  
Close Association ◽  
Administration Routes ◽  
The Central Nervous System ◽  
Pros And Cons ◽  
Brain And Spinal Cord ◽  
The Brain ◽  
Delivery Efficiency

AbstractDuring the last decades, numerous basic and clinical studies have been conducted to assess the delivery efficiency of therapeutic agents into the brain and spinal cord parenchyma using several administration routes. Among conventional and in-progress administrative routes, the eligibility of stem cells, viral vectors, and biomaterial systems have been shown in the delivery of NTFs. Despite these manifold advances, the close association between the delivery system and regeneration outcome remains unclear. Herein, we aimed to discuss recent progress in the delivery of these factors and the pros and cons related to each modality.

scholarly journals Apitherapy Have a Role in Treatment of Multiple Sclerosis

2014 ◽  
Vol 2 (2) ◽  
pp. 265-270
Author(s):  
Suzette I. Helal ◽  
Ahmad Hegazi ◽  
Khaled Al-Menabbawy
Keyword(s):  
Multiple Sclerosis ◽  
Medical Treatment ◽  
Clinical Symptoms ◽  
Regular Treatment ◽  
Group I ◽  
Mild Improvement ◽  
Bed Sores ◽  
Brain And Spinal Cord ◽  
The Brain ◽  
Ms Therapy

AIM: Multiple sclerosis (MS) is an inflammatory disease in which the fatty myelin sheaths around the axons of the brain and spinal cord are damaged. We Study the effect of Apitherapy in treatment of MS.MATERIAL AND METHODS: Fifty patients with MS, their ages ranged between 26-71 years, were subjected to complete clinical and neurological history and examination to confirm the diagnosis. All cases were under their regular treatment they were divided into two main groups, Group I received honey, pollen, royal jelly and propolis and were treated with apiacupuncture 3 times weekly, for 12 months, in addition to their medical treatment, while group II remains on their ordinary medical treatment only. Apiacupuncture was done by bee stings for regulating the immune system.RESULTS: Results revealed that 4 patients showed some improvement regarding their defects in gait, bowel control, constipation and urination, while 12 cases, showed some mild improvement in their movement in bed, and better improvement in bed sores, sensation, and better motor power, only two cases of them were able to stand for few minutes with support.CONCLUSION: Although Apitherapy is not a curable therapy in MS, but it can be used to minimize the clinical symptoms of MS, and can be included among programs of MS therapy.

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata

Neurology ◽  
2006 ◽  
Vol 66 (6) ◽  
pp. 798-803 ◽  
Author(s):  
A. M. Bams-Mengerink ◽  
C. B.L.M. Majoie ◽  
M. Duran ◽  
R.J.A. Wanders ◽  
J. Van Hove ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Cervical Spinal Cord ◽  
Chondrodysplasia Punctata ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
The Brain

scholarly journals Applications of CRISPR-Cas9 Technology to Genome Editing in Glioblastoma Multiforme

Cells ◽  
2021 ◽  
Vol 10 (9) ◽  
pp. 2342
Author(s):  
Nadia Al-Sammarraie ◽  
Swapan K. Ray
Keyword(s):  
Glioblastoma Multiforme ◽  
Genome Editing ◽  
Gene Editing ◽  
Current Knowledge ◽  
Cost Effective ◽  
Genetic Alterations ◽  
Brain And Spinal Cord ◽  
The Brain

Glioblastoma multiforme (GBM) is an aggressive malignancy of the brain and spinal cord with a poor life expectancy. The low survivability of GBM patients can be attributed, in part, to its heterogeneity and the presence of multiple genetic alterations causing rapid tumor growth and resistance to conventional therapy. The Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-CRISPR associated (Cas) nuclease 9 (CRISPR-Cas9) system is a cost-effective and reliable gene editing technology, which is widely used in cancer research. It leads to novel discoveries of various oncogenes that regulate autophagy, angiogenesis, and invasion and play important role in pathogenesis of various malignancies, including GBM. In this review article, we first describe the principle and methods of delivery of CRISPR-Cas9 genome editing. Second, we summarize the current knowledge and major applications of CRISPR-Cas9 to identifying and modifying the genetic regulators of the hallmark of GBM. Lastly, we elucidate the major limitations of current CRISPR-Cas9 technology in the GBM field and the future perspectives. CRISPR-Cas9 genome editing aids in identifying novel coding and non-coding transcriptional regulators of the hallmarks of GBM particularly in vitro, while work using in vivo systems requires further investigation.

A Survey on Detection and Classification of Brain Tumor Using Image Processing Techniques

2020 ◽  
pp. 967-973
Author(s):  
V. Deepika ◽  
T. Rajasenbagam
Keyword(s):  
Image Processing ◽  
Brain Tumor ◽  
Soft Tissues ◽  
Tumor Detection ◽  
Tumor Classification ◽  
Normal Brain ◽  
Image Processing Techniques ◽  
Normal Brain Function ◽  
Processing Techniques ◽  
The Brain

A brain tumor is an uncontrolled growth of abnormal brain tissue that can interfere with normal brain function. Although various methods have been developed for brain tumor classification, tumor detection and multiclass classification remain challenging due to the complex characteristics of the brain tumor. Brain tumor detection and classification are one of the most challenging and time-consuming tasks in the processing of medical images. MRI (Magnetic Resonance Imaging) is a visual imaging technique, which provides a information about the soft tissues of the human body, which helps identify the brain tumor. Proper diagnosis can prevent a patient's health to some extent. This paper presents a review of various detection and classification methods for brain tumor classification using image processing techniques.

Pelvic schwannoma

GYNECOLOGY ◽  
2020 ◽  
Vol 22 (5) ◽  
pp. 84-86
Author(s):  
Sergei P. Sinchikhin ◽  
Sarkis G. Magakyan ◽  
Oganes G. Magakyan
Keyword(s):  
Auditory Nerve ◽  
World Literature ◽  
Morphological Study ◽  
Clinical Observation ◽  
Nerve Trunk ◽  
Practical Case ◽  
Surgical Volume ◽  
The World ◽  
Brain And Spinal Cord ◽  
The Brain

Relevance.A neoplasm originated from the myelonic sheath of the nerve trunk is called neurinoma or neurilemmoma, neurinoma, schwannoglioma, schwannoma. This tumor can cause compression and dysfunction of adjacent tissues and organs. The most common are the auditory nerve neurinomas (1 case per 100 000 population per year), the brain and spinal cord neurinomas are rare. In the world literature, there is no information on the occurrences of this tumor in the pelvic region. Description.Presented below is a clinical observation of a 30-year-old patient who was scheduled for myomectomy. During laparoscopy, an unusual tumor of the small pelvis was found and radically removed. A morphological study allowed to identify the remote neoplasm as a neuroma. Conclusion.The presented practical case shows that any tumor can hide under a clinical mask of another disease. The qualification of the doctor performing laparoscopic myomectomy should be sufficient to carry out, if necessary, another surgical volume.

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