Case Report - Marfan syndrome: Report of two cases with review of literature

Marfan syndrome is a variable, autosomal dominant disorder of connective tissue whose cardinal features affect the cardiovascular system, eyes and skeleton. The minimal birth incidence is around 1 in 9800. About three quarters of patients have an affected parent; new mutations account for the remainder. The patient’s prognosis depends on the severity of cardiovascular complications and is mainly determined by progressive dilation of the aorta. If signs of Marfan syndrome are recognized, it is important to refer to the correct health care professional for further testing to prevent associated complications. If not properly treated, premature death may be caused by the severe cardiovascular and pulmonary complications associated with Marfan syndrome. Therefore, it is important to identify this potentially life‑threatening condition in general practice. This article reports two cases with a very typical features of Marfan syndrome

Novel therapies for epilepsy in the pipeline

Despite the availability of many antiepileptic drugs (AEDs) (old and newly developed) and, as recently suggested, their optimization in the treatment of patients with uncontrolled seizures, more than 30% of patients with epilepsy continue to experience seizures and have drug-resistant epilepsy; the management of these patients represents a real challenge for epileptologists and researchers. Resective surgery with the best rates of seizure control is not an option for all of them; therefore, research and discovery of new methods of treating resistant epilepsy are of extreme importance. In this article, we will discuss some innovative approaches, such as P-glycoprotein (P-gp) inhibitors, gene therapy, stem cell therapy, traditional and novel antiepileptic devices, precision medicine, as well as therapeutic advances in epileptic encephalopathy in children; these treatment modalities open up new horizons for the treatment of patients with drug-resistant epilepsy

Urbanization and Green Spaces—A Study on Jnana Bharathi Campus, Bangalore University

Global warming is amongst the most alarming problems of the new era. Carbon emission is evidently the strongest fundamental factor for global warming. So increasing carbon emission is one of today’s major concerns, which is well addressed in the Kyoto Protocol. Trees are amongst the most significant elements of any landscape, because of both biomass and diversity, and their key role in ecosystem dynamics is well known. Trees absorb the atmospheric carbon dioxide and act as a carbon sink, since 50 % of biomass is carbon itself and the importance of carbon sequestration in forest areas is already accepted, and well documented. With this background, a carbon sequestration potential study was carried out in Jnana Bharathi campus, Bangalore University using the Quadrat method. The total geographical area is about 449.74 ha with a rich vegetation sector and the total amount of both above ground carbon (AGC) and below ground carbon (BGC) was estimated as an average of 54.8 t/ha. The total amount of carbon dioxide assimilated into the vegetation in terms of both above ground and below ground biomass was estimated as an average of 200.9 t/ha. Urbanization and habitat fragmentation seem to be increasing worldwide, substantiated by a case study in Bangalore City. The analysis revealed that increase in built-up area at the city level was by about 164.62 km2, while the vegetation and water bodies decreased by about 285.72 and 7.2 km2 respectively. However, Bangalore University, Jnana Bharathi campus attains a good vegetation cover and is seen as one of the ‘green lungs’ of Bangalore city

In Heart Failure Patients with Left Bundle Branch Block Single Lead MultiSpot Left Ventricular Pacing Does Not Improve Acute Hemodynamic Response To Conventional Biventricular Pacing. A Multicenter Prospective, Interventional, Non-Randomized Study.

Introduction Recent efforts to increase CRT response by multiSPOT pacing (MSP) from multiple bipols on the same left ventricular lead are still inconclusive. Aim The Left Ventricular (LV) MultiSPOTpacing for CRT (iSPOT) study compared the acute hemodynamic response of MSP pacing by using 3 electrodes on a quadripolar lead compared with conventional biventricular pacing (BiV). Methods Patients with left bundle branch block (LBBB) underwent an acute hemodynamic study to determine the %change in LV+dP/dtmax from baseline atrial pacing compared to the following configurations: BiV pacing with the LV lead in a one of lateral veins, while pacing from the distal, mid, or proximal electrode and all 3 electrodes together (i.e. MSP). All measurements were repeated 4 times at 5 different atrioventricular delays. We also measured QRS-width and individual Q-LV durations. Results Protocol was completed in 24 patients, all with LBBB (QRS width 171±20 ms) and 58% ischemic aetiology. The percentage change in LV+dP/dtmax for MSP pacing was 31.0±3.3% (Mean±SE), which was not significantly superior to any BiV pacing configuration: 28.9±3.2% (LV-distal), 28.3±2.7% (LV-mid), and 29.5±3.0% (LV-prox), respectively. Correlation between LV+dP/dtmax and either QRS-width or Q-LV ratio was poor. Conclusions In patients with LBBB MultiSPOT LV pacing demonstrated comparable improvement in contractility to best conventional BiV pacing. Optimization of atrioventricular delay is important for the best performance for both BiV and MultiSPOT pacing configurations. Trial Registration ClinicalTrials.gov NTC0188314

Colloids as Mobile Substrates for the Implantation and Integration of Differentiated Neurons into the Mammalian Brain

Neuronal degeneration and the deterioration of neuronal communication lie at the origin of many neuronal disorders, and there have been major efforts to develop cell replacement therapies for treating such diseases. One challenge, however, is that differentiated cells are challenging to transplant due to their sensitivity both to being uprooted from their cell culture growth support and to shear forces inherent in the implantation process. Here, we describe an approach to address these problems. We demonstrate that rat hippocampal neurons can be grown on colloidal particles or beads, matured and even transfected in vitro, and subsequently transplanted while adhered to the beads into the young adult rat hippocampus. The transplanted cells have a 76% cell survival rate one week post-surgery. At this time, most transplanted neurons have left their beads and elaborated long processes, similar to the host neurons. Additionally, the transplanted cells distribute uniformly across the host hippocampus. Expression of a fluorescent protein and the light-gated glutamate receptor in the transplanted neurons enabled them to be driven to fire by remote optical control. At 1-2 weeks after transplantation, calcium imaging of host brain slice shows that optical excitation of the transplanted neurons elicits activity in nearby host neurons, indicating the formation of functional transplant-host synaptic connections. After 6 months, the transplanted cell survival and overall cell distribution remained unchanged, suggesting that cells are functionally integrated. This approach, which could be extended to other cell classes such as neural stem cells and other regions of the brain, offers promising prospects for neuronal circuit repair via transplantation of in vitro differentiated, genetically engineered neurons

Task-shifting HIV counselling and testing services in Zambia: the role of lay counsellors

BACKGROUND: The human resource shortage in Zambia is placing a heavy burden on the few health care workers available at health facilities. The Zambia Prevention, Care and Treatment Partnership began training and placing community volunteers as lay counsellors in order to complement the efforts of the health care workers in providing HIV counselling and testing services. These volunteers are trained using the standard national counselling and testing curriculum. This study was conducted to review the effectiveness of lay counsellors in addressing staff shortages and the provision of HIV counselling and testing services.METHODS: Quantitative and qualitative data were collected by means of semistructured interviews from all active lay counsellors in each of the facilities and a facility manager or counselling supervisor overseeing counseling and testing services and clients. At each of the 10 selected facilities, all counselling and testing record books for the month of May 2007 were examined and any recordkeeping errors were tallied by cadre. Qualitative data were collected through focus group discussions with health care workers at each facility.RESULTS: Lay counsellors provide counselling and testing services of quality and relieve the workload of overstretched health care workers. Facility managers recognize and appreciate the services provided by lay counsellors. Lay counsellors provide up to 70% of counselling and testing services at health facilities. The data review revealed lower error rates for lay counsellors, compared to health care workers, in completing the counselling and testing registers.CONCLUSION: Community volunteers, with approved training and ongoing supervision, can play a major role at health facilities to provide counselling and testing services of quality, and relieve the burden on already overstretched health care workers

Prognostic Utility of Albumin-Bilirubin Grade for Short- and Long-Term Outcomes Following Hepatic Resection for Intrahepatic Cholangiocarcinoma: a Multi-Institutional Analysis of 706 Patients

Background: The objective of the current study was to define the impact of albumin-bilirubin (ALBI) grade on short- as well as long-term outcomes among patients with intrahepatic cholangiocarcinoma (ICC). Methods: Patients who underwent hepatectomy for ICC between 1990 and 2016 were identified using an international multi-institutional database. Clinicopathologic factors including ALBI score were assessed using bivariate and multivariable analyses, as well as standard survival analyses. Results: Among 706 patients, 453 (64.2%) patients had ALBI grade 1, 231 (32.7%) ALBI grade 2, and 22 (3.1%) had ALBI grade 3. After adjusting for all competing factors, patients with ALBI grade 2/3 had higher odds of a prolonged length-of-stay (>10 days, odds ratio [OR] = 2.37, 95% confidence interval [CI]:1.47-3.80), perioperative transfusion (OR = 2.15, 95% CI:1.45-3.18) and 90-day mortality (OR = 2.50, 95% CI:1.16-5.38). Median and 5-year overall survival (OS) for the entire cohort was 41.5 months (IQR:15.7-107.8) and 39.8%, respectively. Of note, median OS incrementally worsened with increased ALBI grade: grade 1, 49.6 months (IQR:18.3-NR) vs grade 2, 29.6 months (IQR:12.6-98.4) vs grade 3, 16.9 months (IQR:6.5-32.4; P < 0.001). On multivariable analysis, higher ALBI grade remained associated with higher hazards of death (grade 2/3: hazard ratio = 1.36, 95% CI:1.04-1.78). Conclusion: The ALBI score was associated with both short- and long-term outcomes following resection for ICC and could prove a useful surrogate marker to identify patients at risk for adverse outcomes.info:eu-repo/semantics/publishedVersio

Differential Susceptibility of Interneurons Expressing Neuropeptide Y or Parvalbumin in the Aged Hippocampus to Acute Seizure Activity

Acute seizure (AS) activity in old age has an increased predisposition for evolving into temporal lobe epilepsy (TLE). Furthermore, spontaneous seizures and cognitive dysfunction after AS activity are often intense in the aged population than in young adults. This could be due to an increased vulnerability of inhibitory interneurons in the aged hippocampus to AS activity. We investigated this issue by comparing the survival of hippocampal GABA-ergic interneurons that contain the neuropeptide Y (NPY) or the calcium binding protein parvalbumin (PV) between young adult (5-months old) and aged (22-months old) F344 rats at 12 days after three-hours of AS activity. Graded intraperitoneal injections of the kainic acid (KA) induced AS activity and a diazepam injection at 3 hours after the onset terminated AS-activity. Measurement of interneuron numbers in different hippocampal subfields revealed that NPY+ interneurons were relatively resistant to AS activity in the aged hippocampus in comparison to the young adult hippocampus. Whereas, PV+ interneurons were highly susceptible to AS activity in both age groups. However, as aging alone substantially depleted these populations, the aged hippocampus after three-hours of AS activity exhibited 48% reductions in NPY+ interneurons and 70% reductions in PV+ interneurons, in comparison to the young hippocampus after similar AS activity. Thus, AS activity-induced TLE in old age is associated with far fewer hippocampal NPY+ and PV+ interneuron numbers than AS-induced TLE in the young adult age. This discrepancy likely underlies the severe spontaneous seizures and cognitive dysfunction observed in the aged people after AS activity

The estimation of patient-specific cardiac diastolic functions from clinical measurements.

An unresolved issue in patients with diastolic dysfunction is that the estimation of myocardial stiffness cannot be decoupled from diastolic residual active tension (AT) because of the impaired ventricular relaxation during diastole. To address this problem, this paper presents a method for estimating diastolic mechanical parameters of the left ventricle (LV) from cine and tagged MRI measurements and LV cavity pressure recordings, separating the passive myocardial constitutive properties and diastolic residual AT. Dynamic C1-continuous meshes are automatically built from the anatomy and deformation captured from dynamic MRI sequences. Diastolic deformation is simulated using a mechanical model that combines passive and active material properties. The problem of non-uniqueness of constitutive parameter estimation using the well known Guccione law is characterized by reformulation of this law. Using this reformulated form, and by constraining the constitutive parameters to be constant across time points during diastole, we separate the effects of passive constitutive properties and the residual AT during diastolic relaxation. Finally, the method is applied to two clinical cases and one control, demonstrating that increased residual AT during diastole provides a potential novel index for delineating healthy and pathological cases

Association of nail biting and psychiatric disorders in children and their parents in a psychiatrically referred sample of children

<p>Abstract</p> <p>Background</p> <p>Nail biting (NB) is a very common unwanted behavior. The majority of children are motivated to stop NB and have already tried to stop it, but are generally unsuccessful in doing so. It is a difficult behavior to modify or treat. The objective of this study was to investigate the prevalence of co-morbid psychiatric disorders in a clinical sample of children with NB who present at a child and adolescent mental healthcare outpatient clinic and the prevalence of psychiatric disorders in their parents.</p> <p>Method</p> <p>A consecutive sample of 450 referred children was examined for NB and 63 (14%) were found to have NB. The children and adolescents with nail biting and their parents were interviewed according to DSM-IV diagnostic criteria. They were also asked about lip biting, head banging, skin biting, and hair pulling behaviors.</p> <p>Results</p> <p>Nail biting is common amongst children and adolescents referred to a child and adolescent mental health clinic. The most common co-morbid psychiatric disorders in these children were attention deficit hyperactivity disorder (74.6%), oppositional defiant disorder (36%), separation anxiety disorder (20.6%), enuresis (15.6%), tic disorder (12.7%) and obsessive compulsive disorder (11.1%). The rates of major depressive disorder, mental retardation, and pervasive developmental disorder were 6.7%, 9.5%, 3.2%, respectively. There was no association between the age of onset of nail biting and the co-morbid psychiatric disorder. Severity and frequency of NB were not associated with any co-morbid psychiatric disorder. About 56.8% of the mothers and 45.9% of the fathers were suffering from at least one psychiatric disorder. The most common psychiatric disorder found in these parents was major depression.</p> <p>Conclusion</p> <p>Nail biting presents in a significant proportion of referrals to a mental healthcare clinic setting. Nail biting should be routinely looked for and asked for in the child and adolescent mental healthcare setting because it is common in a clinical population, easily visible in consultation and relatively unintrusive to ask about. If present, its detection can then be followed by looking for other more subtle stereotypic or self-mutilating behaviors.</p