Is beta 2 urinary microglobulin a biomarker of topographical discrimination between high and low urinary tract infection?
Published on: 28th April, 2020
OCLC Number/Unique Identifier: 8588737014
Urinary tract infections are common affection in the general population.
Diagnosis is often easy in the presence of evocative clinical signs.
The diagnosis of urinary tract infection is evoked in the presence of an uropathogenic germ in the urine in sufficient quantity associated with urinary signs. The presence of lower back pain, chills, fever higher than 39° is suggestive of a high urinary tract infection localized in the kidney, the absence of fever associated with dysuria is suggestive of low urinary tract infection localized in the bladder.
Specific meningoencephalitis in patients with transplanted kidney
Published on: 17th June, 2020
OCLC Number/Unique Identifier: 8628628844
We described a case of specific (tuberculous) encephalitis in a patient after kidney transplantation. Immunosuppressive therapy, continuously required in post-tranplant period, may cause various complications, such as infections. Specific meningoencephalitis is an infection that is rarely diagnosed and more common in immunocompromised patients.
Case report: A 30-year-old man had kidney transplantation (kidney donor was his father). He previously was two years on chronic hemodialysis treatment because of end-stagerenal disease based on diabetic nephropathy. He has diabetes type 1. The early post-transplant period duly passed with satisfactory clinical and laboratory parameters of renal function. Two months after transplantation, he presented with febrile condition, signs of septicemia and dehydration with significant neurological deficit and expressed meningeal signs. In cerebrospinal fluid we found lymphocytosis, elevated proteins and positive micobacterium tuberculosis antibodies (Hexagon method) and we suspected to specific etiology of meningitis. Performed computed tomography (CT) scan of the brain with contrast confirmed the expected finding.
Due to the poor prognosis of infections of the central nervous system (CNS) in immunocompromised patients, only prompt diagnosis can improve survival in this group of patients. The therapeutic protocol after kidney transplantation include the prophylactic use of antituberculous drug (Isoniazid 300 mg) during the 9 months.
SGLT2 Inhibitors and nephroprotection in diabetic kidney disease: From mechanisms of action to the latest evidence in the literature
Published on: 21st August, 2020
OCLC Number/Unique Identifier: 8651234199
Type 2 Diabetes Mellitus constitutes a major problem in public health worldwide. The disease poses a high risk of severe microvascular and macrovascular complications. Diabetic kidney disease is the most common cause of end-stage chronic kidney disease and contributes to the increasing morbidity and mortality associated to diabetes. Sodium-glucose contransporter-2 inhibitors (SGLT2 inhibitors) are the latest oral diabetic medications, which exhibit a great nephroprotective potential, not only by improving glycemic control, but also by glucose-independent mechanisms, such as decreasing blood pressure and other direct renal effects. We conduct a literature review based on the most recent scientific evidence with the goal to elucidate the postulated mechanisms of action of SGLT2 inhibitors in diabetic kidney disease, which are the base of the beneficial clinical effects that are seen in the condition.
Acute kidney injury in Colombian patients with COVID-19 who received kidney support therapy with genius® 90 technology
Published on: 11th September, 2020
OCLC Number/Unique Identifier: 8665847570
Introduction: Acute kidney injury (AKI) is one of the complications associated with severe COVID-19 infection, and it can present in up to 20% to 40% of the cases; of these, approximately 20% will require renal replacement therapy (RRT).
Objective: To establish clinical and laboratory characteristics in a group of patients from Colombia with COVID-19 infection and AKI that received intermittent and prolonged RRT with the GENIUS® 90 technology in between March and July 2020.
Design: Cross-sectional study.
Results: 78.9% of participants were men and 21.1% were women. The main comorbidities were the following: Hypertension (65.3%), diabetes mellitus (38.9%), obesity (26.3%), cancer (5.3%), Chronic obstructive pulmonary disease (11.6%), cardiovascular disease (23.2%), active smoking (11.6%). 33.7% had chronic kidney disease (CKD) in the average serum creatinine on admission was 4.4 mg/dl.
The following inflammatory markers were elevated: C-reactive protein (CRP), d-dimer and ferritin (20.3 mg/dl, 931mcg/l and 1174 ng/ml, respectively). 63.5% of patients underwent sustained low-efficiency dialysis (SLED) (6 to 12 hours) and the rest of the patients (36.35%) underwent conventional hemodialysis (less than 4 hours). The mortality of the total patient sample was 36.9%, lower in patients with CKD than in patients with no previous renal disease history (18.7% and 40.1%, respectively).
Conclusion: Renal complications are frequent in patients with severe COVID-19. The development of AKI could be an isolated prognostic marker associated with an increase in mortality in patients with COVID-19, and one of the options is intermittent and prolonged RRT with the GENIUS® 90 system.
Modification of the Renal Angina Index for identifying the need for renal replacement therapy in critically ill pediatric patients
Published on: 2nd November, 2020
OCLC Number/Unique Identifier: 8769657642
Severe Acute Kidney Injury (AKI) is a common, serious problem affecting critically ill children that lacks effective treatment options. Currently, there are no treatment options for AKI other than supportive care. Continuous renal replacement therapy (CRRT) is employed to reduce Fluid Overload (FO) burden and treat metabolic disturbances in AKI. Identifying patients upon admission who may require CRRT has potential clinical care implications. The aim of this study was to determine if the RAI had diagnostic capabilities to identify patients who would require CRRT.
The analytic cohort consisted of patients who required CRRT and illness severity score matched controls who did not require CRRT at a single center. Patients who required CRRT had higher mortality rates, length of stay, and use of ventilatory and inotropic support. Sensitivity, specificity and area under the receiver operating characteristic curve (AUC) assessed and compared the discriminatory accuracy of three scores: 1) the renal angina index (RAI), 2) serum-creatinine (sCr) based AKI on day 0 and 3) modified RAI created with an additional RAI injury tranche that corresponded to severe stage 3 AKI sCr elevation.
Compared to Day0AKI (AUC 0.78, 0.70-0.87; sensitivity 0.63, 0.45-0.79; specificity 0.93, 0.870.97) and RAI (AUC 0.76, 0.69-0.82; sensitivity 0.94, 0.81-0.99; specificity 0.57, 0.47-0.66), the modified RAI had the highest AUC (0.79; 0.72-0.85) with a high sensitivity (0.91; 0.77-0.98) and moderate specificity (0.65; 0.56-0.75) for prediction of CRRT requirements. As a more accurate tool for discriminating patients in need of CRRT, a modified RAI has numerous potential implications. Identifying patients who ultimately require CRRT at an earlier timepoint may influence timing of CRRT initiation in an attempt to avoid further FO, or may influence nephrotoxin administration. The diagnostic capabilities of the modified RAI may be refined by the addition of urinary biomarkers. These findings should be validated in a larger cohort.
Glomerular hyperfiltration in Yemeni children with sickle cell disease
Published on: 12th January, 2021
OCLC Number/Unique Identifier: 8899350598
Background: Glomerular hyperfiltration (GH) is a common feature of sickle cell nephropathy (SCN) starting at infancy and represents an early marker of incipient glomerular injury and renal dysfunction.
Methods: This study aimed to determine the prevalence and correlates of GH among children (≤ 16 years) with sickle cell disease (SCD) at their steady state, recruited over 6 months at the Pediatric Outpatient Clinic in Al-Sadaqa General Teaching Hospital, Aden, Yemen. Glomerular filtration rate (eGFR) was estimated using the Schwartz formula. Data on clinical history, anthropometry, blood pressure (BP) and laboratory investigations were collected.
Results: Of 101 children (mean age 7.2 ± 3.9 years), 65 (64.4%) were males. The prevalence of GH was observed in 36 (35.6%) children, who were significantly older (10.7 ± 3.2 vs. 5.2 ± 2.7 years, p < 0.001) and had a lower fetal Hb level (5 ± 3.3 vs. 9 ± 7.1, p = 0.02). All children were normotensive, but hyperfiltrating children showed significantly higher systolic (97.2 ± 7.3 vs. 89.7 ± 5.2 mmHg) and diastolic pressure (55.1 ± 5.0 vs. 49 ± 4.3 mmHg) (all p < 0.001). Among evaluated children, 25.7% had hyperfiltration alone, whereas 9.9% had an associated microalbuminuria (MA), and no significant difference in eGFR between those with and without MA (158.4 ± 33.7 vs. 160.7 ± 29.8 ml/min/173m2, p = 0.84).
Conclusion: This study demonstrated a relatively high prevalence of GH in Yemeni children with SCD that increased with age. Recognition of hyperfiltration and other early markers of nephropathy in this population could help to develop renal protective strategies to prevent progressive loss of kidney function.
Hyperacute fatal course in a hypercalcemic crisis
Published on: 20th January, 2021
OCLC Number/Unique Identifier: 8899339891
A 39-year-old woman, with a not significant past medical history, entered the Emergency Department complaining about nausea, vomiting, constipation, anorexia, deep asthenia, and diffuse muscle aches with cramps. She referred sporadic diarrhea (one episode) the day before and a worsening headache in the past three days; she also complained about polyuria and polydipsia not investigated for one year. The clinical examination was not significant, apart from the evidence of skin and mucosal dryness, tachycardia, and diffuse abdominal pain. The laboratory tests revealed hypokalemia and elevated beta-human chorionic gonadotropin (β-hCG) plasma levels. An ultrasound abdominal imaging was consistent with kidney lithiasis. Suspecting a hyperemesis gravidarum in a patient with kidney lithiasis, a rehydrating therapy was administered as long as potassium reintegration. During the hospital stay, the patient became drowsy. A haemogasanalysis revealed very high calcium values: 3,379 mmol/L (n.v. 1,120-1,320 mmol/L). Lab tests confirmed very high levels of calcium 21,1 mg/dL (n.v. 9-10,5 mg/dL), as long as increased parathormone (PTH) > 3000 pg/mL (normal values 14-65 pg/mL), and hypokalemia (3,2 mEq/L n.v. 3,50 – 4,50). Ultrasound exam of the neck revealed the presence of a left parathyroid nodule measuring 2,5 x 1,6 cm. Before having time to start an appropriate therapy, the patient died.
Usefulness of foot-to-foot bioimpedance analysis for assessing volume status in chronic hemodialysis patients at the Aristide Le Dantec University Hospital (Senegal)
Published on: 20th July, 2021
OCLC Number/Unique Identifier: 9198815507
Introduction: Determination of dry weight is one of the daily goals to achieve in hemodialysis. The aim of this study was to validate the use of bioelectrical impedance analysis (BIA) in estimation of dry weight in a population of Senegalese chronic hemodialysis patients.
Patients and methods: A 9-week cross-sectional study was carried out at the hemodialysis unit of Aristide Le Dantec University Hospital. Adult patients with no previous hospital history were included. The total body water (TBW) was measured with a single frequency bioelectric impedance foot-to-foot analyzer, before and after six successive hemodialysis sessions. These results were compared with those from clinical measurements with the Watson equation using a Student’s t-test and Bland-Altman analysis.
Results: 264 measurements were made in 22 patients (46.6 years, 54.5% men, 92.3 months on dialysis, 62.7 kg mean dry weight). A significant reduction in weight (ΔWeight = 2.0 ± 1.1 kg; p < 0.0001) and in TBW measured by the BIA (ΔTBWBIA = 3.3 ± 1.0 liters; p < 0.0001)) or calculated by Watson’s equation (ΔTBWWatson = 0.5 ± 0.2 liter; p = 0.0001) was observed. There was a strong linear correlation and agreement between the 2 TBW measurements in pre-dialysis. In post-dialysis the concordance diagram indicated a bias = –2.2 and wide agreement limits.
Conclusion: The BIA allows reproducible and reliable measurements and a fair estimate of the TBW in pre-dialysis.
Multifrecuency bioimpedance phase angle as a tool to predict maturation failure of native fistulae for hemodialysis
Published on: 21st July, 2021
OCLC Number/Unique Identifier: 9198828640
Background and objectives: An arteriovenous fistula is considered to be an ideal vascular access for patients receiving hemodialysis, its main limitation is its high failure rate to achieve maturation and long-term functionality loss. Multiple strategies have attempted to identify patients at risk. Bioelectrical impedance has shown to be a valuable resource in the determination of the hydration status, and the measurement of the phase angle through this method has demonstrated to be a good indicator of the nutritional state and its related as a general marker of survival. The objective of this study is to analyze the role of plasma albumin and phase angle measured through bioelectrical impedance as tools useful for predicting failure of arteriovenous fistulas.
Materials and methods: prospective observational study, including 104 patients with chronic kidney disease receiving hemodialysis who underwent a native arteriovenous fistula during a period of 24 months. Analyzing its clinical characteristics, laboratory and phase angle through electrical bioimpedance, both univariate and multivariate analysis was performed both with logistic regression, furthermore calculation of coordinates and ROC curve to establish a better cut-off point.
Results: of the variables that were analyzed only the phase angle measurement showed statistical significance OR 2.61 (1.6 – 4.4) p - value 0.001 for predicting arteriovenous fistula failure. In female patients with a phase angle value of 3.25 had a 90% sensibility and 53% specificity for male patients a value of 3.58 showed a sensibility of 84% and a specificity of 52% with ROC curve of 0.78.
Conclusion: phase angle through bioimpedance is a useful parameter, helpful in predicting failure of native arteriovenous fistula, it is also an important tool for identifying patients at risk, in early stages prior to the construction of a vascular access.
Practice patterns and outcomes of repository corticotropin injection (Acthar® Gel) use in childhood nephrotic syndrome: A study of the North American Pediatric Renal Trials and collaborative studies and the Pediatric Nephrology Research Consortium
Published on: 23rd July, 2021
OCLC Number/Unique Identifier: 9140608009
Objective: We set up a U.S. registry to examine prescription patterns and patient outcomes of repository corticotropin injection (Acthar® Gel) for childhood nephrotic syndrome.
Methods: 18 participating U.S. pediatric centers performed retrospective review and prospective observation of patients < 21 years old with nephrotic syndrome treated with Acthar Gel. We captured baseline characteristics, drug regimen and duration, and disease response following treatment.
Results: 46 patients, enrolled from 2015 to 2020 were included. 27 (58.7%) were male. 18 patients (39.1%) had a diagnosis of minimal change followed by focal segmental glomerulosclerosis in 16 patients (34.7%). Median age at start of treatment was 12.5 years (IQR 8.5-17.4) compared to 5.3 years at diagnosis (IQR 2.7-10.5 years). 52% were resistant to corticosteroids. The most common Acthar Gel regimen was 80IU twice a week with a median duration of 199 days (IQR 88-365). Among 37 patients with active disease, 18 (49%) were able to achieve partial or complete remission, though all patients that had a positive response were on other immunosuppressants concomitantly.
Conclusion: We report the findings of the largest registry cohort of pediatric patients in the U.S. treated with Acthar Gel for clinically challenging cases of nephrotic syndrome. Acthar Gel was successful in inducing remission in approximately half of the patients with active disease at time of treatment. No predictors of response with respect to demographic data, age at start of Acthar Gel therapy, etiology of nephrotic syndrome, presence or absence of comorbidities, or steroid responsiveness was noted.
Evaluation of the effectiveness of transcranial electrostimulation in treatment of neuropsychiatric disorders
Published on: 17th August, 2021
OCLC Number/Unique Identifier: 9272357891
Objectives: Evaluation of the effectiveness the method of transcranial electrostimulation in treatment of neuropsychiatric disorders with the use of a patches by the company “Aganyan”.
Materials and methods: The study was a double-blind, randomized, placebo-controlled study, participated 106 patients with neuropsychiatric disorders. All participants in were divided into tables according to gender, age and diagnosis. Each subject was given the “Aganyan” patches and a special brochure, in which the method of application was indicated in detail. The wearable patch includes a flexible substrate, a binder an adhesive layer, with an electrode foil attached to it. Patients applied one patch behind each ear. The patches were applied for eight hours every third day for three months.
To assess the effectiveness of therapy in patients the following tests were used: The Montreal Cognitive Assessment Scale; MMSE Scale: Concise Mental Status Scale; diaries of observation of the patient’s condition to identify side effects; special brochures in which the subjects independently indicated the effects of the “Aganyan” patches. Tests were performed before and after the use of the “Aganyan” patches.
Results: When using the patches of the “Aganyan” company, none of the participants in the study had any side effects; According to the results of the Montreal test according to the criterion of memory and the MMSE test, the effectiveness of the patch was noted in patients with all clinical diagnoses. The greatest positive dynamics was revealed according to the results of the Montreal test according to the criterion of memory in patients with migraine (30%), insomnia (31%), vascular dementia (32%), and according to the results of the MMSE test in patients with diagnoses: cerebrovascular disease: consequences of a cerebral infarction brain (31%), vascular dementia (56%).
Conclusion: The patches of “Aganyan” company have proven its effectiveness through electrical stimulation with low-intensity current in patients in different age groups with different clinical diagnoses.
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.
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
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.
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.
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.
Endovascular management of tandem occlusions in stroke: Treatment strategies in a real-world scenario
Published on: 29th June, 2021
OCLC Number/Unique Identifier: 9272368208
The association between intracranial large vessel occlusion (LVO) and concurrent steno-occlusive lesion of an ipsilateral extracranial internal carotid artery (ICA) is considered a tandem occlusion (TO) [1]. In approximately half of TO, the first clinical manifestation are acute occlusions of the extracranial ICA associated with occlusion of the middle cerebral artery (MCA), with additional occlusion of the intracranial ICA in up to 25% of these cases.[2] This particular lesion subset is technically challenging for endovascular treatment (EVT) and is also characterized by lower success rates of intravenous thrombolysis [3], worse prognosis compared to intracranial occlusions alone, and higher rates of symptomatic intracranial hemorrhage [4]. The optimal approach regarding EVT of TO remains controversial, and reports in this regard are scarce. There are two proposed strategies according to the selection of the first lesion to be treated. The proximal approach comprises stenting of the proximal cervical ICA followed by mechanical thrombectomy (MT) of the intracranial vessel, whereas the distal approach involves MT followed by stenting of the cervical ICA [3–14].
Besides, there other clinically relevant unresolved aspects regarding the treatment of these patients, such as concomitant use of intravenous thrombolysis, the need for stenting compared to angioplasty alone, as well as the most adequate antiplatelet strategy after treatment. Accordingly, we aimed to report the procedural and clinical outcomes of a real-world experience in a comprehensive stroke center regarding EVT of anterior circulation acute ischemic stroke (AIS) associated with a TO.
Role of neuron specific enolase as a biomarker in Parkinson’s disease
Published on: 6th July, 2021
OCLC Number/Unique Identifier: 9137583301
Parkinson’s disease (PD) is thought to be the most common neurodegenerative disease with movement disorder. The key motor symptoms are rigidity, tremor, akinesis/hypokinesia/bradykinesia, and postural instability. However, in our day-to-day clinical practice we tend to see several other symptoms which may be motor or non-motor. Non-motor symptoms (NMS) are quite common and debilitating. The pathological hallmarks of PD are loss of dopaminergic neurons in the substantia nigra pars compacta (SNPc) and accumulation of unfolded or misfolded alpha-synuclein. Diagnosis of PD is difficult in the pre-motor stage. Late diagnosis renders a substantial loss of dopaminergic neurons in SNPc and spread of disease in other parts of the brain. This may manifest as either full blown symptoms requiring multiple medications or may even lead to life threatening condition due to lack of early diagnostic tools and techniques. Biomarkers are required to diagnose PD at a very early stage when prevention is possible. Hence, we see a lot of interest among researchers involved in finding a biomarker specific to the disease. Biomarkers may be clinical, image based, genetic, and biochemical. Cerebrospinal fluid (CSF) and serum markers which may correlate with disease pathophysiology are of great significance. One such molecule which recently gained a lot of attention is neuron-specific enolase (NSE). The main aim of this paper is to highlight the role of NSE in predicting neurodegeneration and neuroinflammation ultimately reflecting damage of brain cells in PD.
Facial-onset sensory-motor neuronopathy, a rare variant of Huntington’s disease or chance association?
Published on: 15th July, 2021
OCLC Number/Unique Identifier: 9136190397
Objectives: To describe a patient with facial-onset sensory-motor neuronopathy (FOSMN) that later developed Huntington’s disease (HD).
Case report: A 62-year-old woman complained of progressive dysphagia 8 years before referral. At initial evaluation, there was excessive salivation, dysphagia, and sensory-motor trigeminal impairment. Denervation was noted on the upper limbs and the tongue. Blink reflexes were abolished. Genetic study of amyotrophic lateral sclerosis (ALS)-related genes was normal. She was diagnosed with FOSMN syndrome. Her clinical state progressively worsened with corneal anesthesia, severe denutrition, right arm and axial weakness. Seven years after referral, she was unable walk and developed generalized chorea. Abnormal huntingtin gene repeat expansion confirmed the diagnosis of HD. She died 16 years after onset of dysphagia.
Conclusion: Cases with both HD and ALS have already been reported but not FOSMN and HD, to our knowledge. Some FOSMN cases have been linked to ALS-related gene mutations and HD phenocopies have been associated with C9ORF72 repeat expansions. Recently, huntingtin repeat expansions were described in the ALS population. Although a chance association cannot be excluded, data from the literature are in favor of a pathogenic relationship between FOSMN and HD in this particular case. We suggest that huntingtin gene be more systematically studied in patients with FOSMN.
An algorithm to safely manage oral food challenge in an office-based setting for children with multiple food allergies
Published on: 11th August, 2021
OCLC Number/Unique Identifier: 9231823989
Background: In France, from 30% to 35% of children suffer from multiple food allergies (MFA). The gold standard to diagnosis a food allergy is the oral food challenge (OFC) which is conducted in a hospital setting due to risk of anaphylaxis. The aim of this study was to evaluate an algorithm to predict OFCs at low risk of anaphylaxis that could safely be performed in an office-based setting. Methods: Children with MFA and at least one open OFC reactive or non-reactive to other allergens were included. The algorithm was based on multiple clinical and biological parameters related to food allergens, and designed mainly to predict “low-risk” OFCs i.e., practicable in an office-based setting. The algorithm was secondarily tested in a validation cohort. Results: Ninety-one children (median age 9 years) were included; 94% had at least one allergic comorbidity with an average of three OFCs per child. Of the 261 OFCs analyzed, most (192/261, 74%) were non-reactive. The algorithm failed to correctly predict 32 OFCs with a potentially detrimental consequence but among these only three children had severe symptoms. One hundred eighty-four of the 212 “low-risk” OFCs, (88%) were correctly predicted with a high positive predictive value (87%) and low negative predictive value (44%). These results were confirmed with a validation cohort giving a specificity of 98% and negative predictive value of 100%. Conclusion: This study suggests that the algorithm we present here can predict “low-risk” OFCs in children with MFA which could be safely conducted in an office-based setting. Our results must be confirmed with an algorithm-based machine-learning approach.
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