Differential diagnosis of POLG related disorders: What to keep in mind when multiorgan system is involved?
Published on: 9th June, 2021
Mitochondrial and lysosomal dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) leading to deficient energy production and defects in phagocytosis in endosomal-lysosomal pathway respectively. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the mitochondrial or the nuclear genome, or in the cross-talk between the two. The mitochondrial DNA depletion syndromes (MDSs) are a clinically heterogeneous group of disorders with an autosomal recessive pattern of inheritance that have onset in infancy or early childhood and are characterized by a reduced number of copies of mtDNA in affected tissues and organs. In this review article, we summarized the spectrum of mtDNA depletion disorders along with minor learning of lysosomal storage diseases. This current article offers a perspective on the role of genetics in medical practice and how this role may evolve over the next several years.
Endocannabinoidome and its role in neurological disorders-A comprehensive update of existing literature
Published on: 3rd June, 2021
OCLC Number/Unique Identifier: 9069552355
Medical benefits of cannabis and related compounds is widely known. Discovery of psychotropic plant cannabinoid Δ9-tetrahydrocannabinol have urged researchers to study more about the cannabinoid system and related therapeutics in the field of neurology and medicine. Where activation of cannabinoid receptor type 1 (CB1R) yielded in unwanted and serious side effects, discovery of cannabinoid receptor type 2 (CB2R) and its ligands gave a new hope. Till now there is limited success in this field because of complex expanded endocannabinoid system comprising of receptors, ligands and enzymes. In this review we will update about the role of endocannabinoidome relevant to neurological disorders.
Factors associated with mortality after decompressive craniectomy in large basal ganglia bleeds
Published on: 11th May, 2021
OCLC Number/Unique Identifier: 9272362372
Aim: To assess the efficacy of decompressive craniectomy in patients with large basal ganglia (BG) bleed. To establish predictive criteria of mortality after surgery in patients with BG bleed.
Materials: This prospective study includes all patients of large spontaneous BG bleed operated by decompressive craniectomy without hematoma evacuation from October 2012 to September 2015. Data was collected on patient age, gender, distribution of bleed, affected hemisphere dominancy, preexisting medical conditions, admission Glasgow Coma Score (GCS), midline shift on CT or MRI Brain, hematoma volume and anisocoria, duration (hours) between the onset of stroke and operation, post-operative complications, and the duration of hospital stay. This data was correlated with one month mortality of the patients.
Results: Total number of patients were 27. Mean age was 51 years and mean GCS was 7.55(range 5-11). The mean volume of the bleed was 68.51 ml. Mortality was noted in 17 out of 27 patients (63%) in 30 days. Thirteen of the 16 patients with intraventricular extension of BG bleed had mortality. The factors that showed statistically significant correlation with one month mortality were age, GCS at admission, volume of the bleed and the intraventricular extension.
Conclusion: Large BG bleed was associated with high mortality and morbidity. Age of 50 years or more and GCS ≤ 8 at presentation were poor prognostic factors for decompressive craniectomy in patients with BG bleed. Patients with large BG bleed of volume > 60 ml and intraventricular extension had poor prognosis.
Endovascular treatment experience in acute ischemic stroke
Published on: 26th April, 2021
OCLC Number/Unique Identifier: 9026722297
Background and Objective: Thrombolytic and mechanical thrombectomy therapies are proven treatment methods in patients with acute stroke. Aim is to share our experience in acute stroke therapy with colleagues.
Material and methods: In this study we evaluated the patients who underwent MT or MT + IV-tPA between 2018-2019 retrospectively. Demographic features, comorbid diseases of patients, symptom onset-to-gate and symptom gate-to-puncture durations, mRS (Modified Rankin Score) and NIHSS (National Institutes of Health Stroke Scale) score, treatment method and degree of recanalization were listed.
Results: MT was applied to 29 patients, MT + bolus IV-tPA was applied to 12 patients and MT + full dose IV-tPA was applied to 7 patients. The mean age was 66 ± 15 years, arrival mRS was 2 ± 2, arrival NIHSS score was 14 ± 5, onset-to-gate duration was 185 minutes and gate-to-puncture duration was 118 minutes.
Conclusion: The rate of recanalization, functional independence and mortality were similar to the HERMES study. It was observed a higher rate of intracranial hemorrhage in patients who received bolus or full dose IV-Tpa compared to patients who underwent MT. These results have led us to question the necessity of giving bolus or full dose IV-tPA before MT. Onset-to-gate and gate-to-puncture durations were found longer than the recommended durations. Rapid and effective management of AIS patients will provide good clinical results.
Characterization of the immune response in neuroimmune disorders in children
Published on: 20th April, 2021
OCLC Number/Unique Identifier: 9026721284
Background: A misguided auto-reactive injury is responsible for several types of central nervous system (CNS) conditions in pediatrics. We propose that, in some of these conditions, the adaptive immune system has a common cellular immune pathogenesis, driven predominantly by T cells, despite variability on the phenotypical clinical presentation.
Methods: We have characterized the CD4+/CD8+ adaptive immune response (AIR) on pediatric patients presenting with clinical symptoms compatible with Neuroimmune Disorders (NID). Flow cytometry with deep immunophenotyping of T cells was performed on peripheral blood obtained during the acute clinical phase and compared to an age-matched cohort group (Co).
Results: We found that pediatric patients with confirmed NID, exhibit a pattern of dysregulation of CD4+ lineages associated with autoimmune processes.
Discussion: The autoimmune associated CD4+ dysregulation was associated with patients with NID, as compared to healthy controls and patients with non-autoimmune diagnoses. If we can improve our capacity for early accurate diagnosis and meaningful disease monitoring of pathogenic T cell subsets, we can both expedite disease detection and may serve as a guide to the administration of effective immunotherapeutic agents.
Cortical spreading depolarizations in the context of subarachnoid hemorrhage and the role of ketamine
Published on: 23rd March, 2021
OCLC Number/Unique Identifier: 9026724760
Delayed cerebral ischemia (DCI) is one of the main complications of spontaneous subarachnoid haemorrhage and one of its causes is the cortical spreading depolarizations (CSDs). Cortical spreading depolarizations are waves of neuronal and glial depolarizations in which there is loss of neuronal ionic homeostasis with potassium efflux and sodium and calcium influx. In damaged brain areas and brain areas at risk, such as those adjacent to subarachnoid haemorrhage (SAH), CSDs induce microvascular vasoconstriction and, therefore, hypoperfusion and spread of ischemia. Several studies have been devoted to minimize secondary injuries that occur hours to days after an acute insult. Ketamine, a drug until recently contraindicated in the neurosurgical population for potentially causing intracranial hypertension, has re-emerged as a potential neuroprotective agent due to its pharmacodynamic effects at the cellular level. These effects include anti-inflammatory mechanisms, and those of microthrombosis and cell apoptosis controls, and of modulation of brain excitotoxicity and CSDs. A literature review was performed at PubMed covering the period from 2002 to 2019. Retrospective studies confirmed the effects of ketamine on the control of CSDs and, consequently, of DCI in patients with SAH, but did not show improvement in clinical outcome. The influence of ketamine on the occurrence/development of DCI needs to be further confirmed in prospective randomized studies
Cerebral arterial air embolism with anterior spinal cord syndrome after CT-guided hook-wire localization of Lung mass and pulmonary nodule
Published on: 19th March, 2021
OCLC Number/Unique Identifier: 8973613870
Systemic arterial air embolism (SAAE) is a rare but serious complication of CT-guided hook wire localization of pulmonary nodule usually with catastrophic and poor outcome. Hook wire needle localization is done pre-operatively by placing wire around or into the pulmonary nodule to provide the thoracic surgeon accurate location guidance of the target nodule for Video-Assisted Thoracoscopic Surgery (VATS) wedge resection with safety margins. Physicians should be aware of this possible complication during the procedure in order to rescue the patient promptly as it requires rapid diagnosis and management. We describe a 55-year-old male who underwent a CT-guided hook wire needle localization of left upper lobe lung cancer and left lower lobe pulmonary nodule prior to planned VATS wedge resection who developed altered mental status and bilateral lower extremities paralysis after wire placement was completed. His CT head demonstrated small air embolism in the left occipital area, confirming the diagnosis of cerebral air embolism and follow up CT and MRI of the head revealed multiple areas of brain infarction. In addition, he was diagnosed with anterior spinal cord syndrome (ACS), most likely due to anterior spinal artery ischemia from micro air embolism on the basis of clinical findings but with negative ischemic changes on MRI of the spinal cord. His mental status recovered but he remained paraplegic and transferred to inpatient rehabilitation service.
After human: The world of brain-net on earth
Published on: 25th January, 2021
OCLC Number/Unique Identifier: 8899339296
“The mind of man is capable of anything….because everything in in it, all the past as well as all the future [Joseph Conrad]”. Why I am using above quote and what is the relation to what point I am coining you will understand its relevant your own as you moving line by line of this write-up. This topic though complex to some people to get understand, but those has strong or at least average background of Space, Physics, Quantum Mechanics, Neuroscience and theory of evolution definitely acquire it. Near distance and physical face to face communication started with the evolution of humankind and changes in each evolution in DNA structure caused to changes in communication patterns from different phonetics to gestures, gestures to voice and voice to voice with different languages.
Acute urinary retention and hyponatremia from central hypothyroidism
Published on: 8th January, 2021
OCLC Number/Unique Identifier: 8899349889
A mass arising from the pituitary gland commonly damages cells of the anterior pituitary gland and affects the secretion of gonadotropins and growth hormone. However, central hypothyroidism and secondary adrenal insufficiency from such damage is a rare phenomenon. Acute urinary retention as the main symptom of central hypothyroidism is also an unusual initial presentation. We report a male patient who comes with frequent urinary retention and hyponatremia at our hospital.
A study on pacemaker pocket infection
Published on: 25th March, 2020
OCLC Number/Unique Identifier: 8576354340
Objective: Cardiac implantable electronic device (CIED) infections now constitute ∼ 10% of all endocarditis cases. The incidence of CIED infection is usually < 2%. Our objective was to study pacemaker pocket infection rate and different risk factors in our institution.
Methods: This observational study was conducted over a period of five years from January 2011 to December 2016 and it included 1096 patients. Common risk factors like patients with diabetes, repeat procedure, chronic renal failure, chronic obstructive airway disease, immunosuppressive agents were studied in our patients.
Results: Our study consisted of 1096 patients. Pacemaker pocket infection occurred in sixteen patients (1.5%). Chronic renal failure patients were one hundred thirty in our study (11.86%). There were three hundred fifty six diabetic patients (32.48%). Repeat procedure was done in ninety five patients (8.6%).
Results: Our study consisted of 1096 patients. Pacemaker pocket infection occurred in sixteen patients (1.5%). Chronic renal failure patients were one hundred thirty in our study (11.86%). There were three hundred fifty six diabetic patients (32.48%). Repeat procedure was done in ninety five patients (8.6%)
Eighty six patients were suffering from chronic obstructive airway (7.8%). Patients on immunosuppressive therapy were fourteen in our study (1.2%).
Conclusion: Pacemaker pocket infections is a dreaded complication after pacemaker implantation. During implantation, there is a risk of device contamination with the patient’s own skin flora and it can be prevented by ideal surgical asepsis technique, pre and perioperative use of antibiotics.
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