ADSL Deficiency - The Lesser-Known Metabolic Epilepsy in Infancy.

Adenylosuccinate lyase deficiency is a rare inherited disorder of purine metabolism causing severe neurological impairment ranging from early-onset neonatal epileptic encephalopathy to progressive psychomotor retardation and autism in later life. Diagnostic workup involves the measurement of toxic succinyl purines in body fluids and gene sequencing. The authors describe a 13-mo-old girl with compound heterozygous variants in the ADSL gene, presenting as early-onset seizures, severe neurological impairment, development delay, and hypotonia.

The path to couples therapy: A descriptive analysis on a Veteran sample.

The current study uses descriptive data from a sample of Veterans and their partners ( = 97 opposite-sex couples) presenting to a Veterans Affairs Medical Center (VAMC). The purpose of this investigation was to examine 1) the problems couples face prior to seeking treatment; 2) how long it took couples to seek treatment; 3) what attempts couples made to improve their relationship prior to couples therapy. We also examined how these treatment initiation factors were related to relationship distress and expectations for therapy.

Abdominal Aortic Occlusion by Hydatid Cysts.

Hydatid disease is a parasitic infestation caused by the larval stage of . It can infest any part of the body; however, aortic hydatid disease is rare. Involvement of the abdominal aorta is usually due to embolization from cardiac hydatid cysts or direct invasion and can be present at intravascular or intramural locations.

High prevalence of idiopathic (islet antibody-negative) type 1 diabetes among Indian children and adolescents.

Objectives: To study the prevalence and clinical characteristics of islet antibody-negative (idiopathic) type 1 diabetes mellitus (T1DM) among Indian children and adolescents at the time of diagnosis of illness.

Methods: In a hospital-based cross-sectional study, we studied 110 patients with T1DM aged ≤18 years. This included 61 patients with duration of diabetes ≤2 weeks (mean ± SD age of onset 9.

Yellow fever vaccination: how much do travelers from Eastern India know?

: International tourism has grown tremendously in the past 2-3 decades in India resulting in exposure of travelers to varied spectrum of diseases prevalent in different parts of the world. Immunization plays a prominent role in protection of the exposed individuals. The objective of the present study was to assess the awareness and knowledge regarding yellow fever and other travel vaccinations amongst travelers of eastern India.

Comparative analysis of image pre-filtering techniques for phase-shifted noise-affected interferograms.

Phase-shifting techniques are one of the most promising strategies to extract the phase information and retrieve the parameters of interest (e.g., refractive index, beam collimation, object shape, deformations, thickness, focal length, etc.

Prevalence and determinants of the dangerous selfie among medical and nursing students: a cross-sectional study from eastern India.

Background: Globally, there has been an exponential rise in smartphone use and selfie taking among youth. To make selfies exciting, dangerous selfies are often taken that may lead to catastrophic consequences, including death. This study aims to estimate the prevalence of dangerous selfies and to determine the factors associated with dangerous selfies among medical and nursing students in India.

Utilization of a Visit-Based Sepsis Assessment to Prevent Hospital Readmissions.

Sepsis results in 270,000 deaths annually in the United States. Despite the current healthcare focus on sepsis, there exist few postacute best-practice standards to rapidly identify health changes in home healthcare patients to prevent and reduce hospital readmissions due to sepsis. We systematically examined whether an evidence-based process and intervention triggering home healthcare clinicians to activate a Positive Sepsis Assessment would reduce the likelihood that the patient would be readmitted to the acute care hospital.

Ending TB in Southeast Asia: current resources are not enough.

The Southeast Asia Region continues to battle tuberculosis (TB) as one of its most severe health and development challenges. Unless there is a substantial increase in investments for TB prevention, diagnosis, care and treatment, there will be catastrophic effects for the region. The uncontrolled TB burden impacts socioeconomic development and increase of drug resistance in the region.

Influence of Socio-Economic and Cultural Factors on Type 1 Diabetes Management: Report from a Tertiary Care Multidisciplinary Diabetes Management Center in India.

Objective: To study the association of socio-economic (SE) and cultural factors with HbA1c and diabetes knowledge of children, adolescents and young adults with T1DM managed in the authors' centre, as these may be unique to a country or a region.

Methods: Demographic details, SE scoring, body mass index and mean of the last two HbA1c values were recorded, in 173 eligible patients. A diabetes knowledge test (DKT) was administered.

Standardised neonatal parenteral nutrition formulations - Australasian neonatal parenteral nutrition consensus update 2017.

Background: The first consensus standardised neonatal parenteral nutrition formulations were implemented in many neonatal units in Australia in 2012. The current update involving 49 units from Australia, New Zealand, Singapore, Malaysia and India was conducted between September 2015 and December 2017 with the aim to review and update the 2012 formulations and guidelines.

Methods: A systematic review of available evidence for each parenteral nutrient was undertaken and new standardised formulations and guidelines were developed.

Androgen deprivation upregulates SPINK1 expression and potentiates cellular plasticity in prostate cancer.

Emergence of an aggressive androgen receptor (AR)-independent neuroendocrine prostate cancer (NEPC) after androgen-deprivation therapy (ADT) is well-known. Nevertheless, the majority of advanced-stage prostate cancer patients, including those with SPINK1-positive subtype, are treated with AR-antagonists. Here, we show AR and its corepressor, REST, function as transcriptional-repressors of SPINK1, and AR-antagonists alleviate this repression leading to SPINK1 upregulation.

Antenatal Care Service Utilization Among Adolescent Pregnant Women-Evidence From Swabhimaan Programme in India.

Pregnant adolescent girls (15-19 years) are more vulnerable to poor health and nutrition than adult pregnant women because of marginalization and lack of knowledge about the antenatal care (ANC) services. The present study aims to test this hypothesis and assess determinants of ANC service utilization among currently adolescent pregnant women. Data were drawn from the baseline survey of SWABHIMAAN project, which had been conducted in three states of India: Bihar, Chhattisgarh, and Odisha.

Phase-Contrast MRI: Physics, Techniques, and Clinical Applications.

With phase-contrast imaging, the MRI signal is used to visualize and quantify velocity. This imaging modality relies on phase data, which are intrinsic to all MRI signals. With use of bipolar gradients, degrees of phase shift are encoded and in turn correlated directly with the velocity of protons.

Multimodality Imaging of Dementia: Clinical Importance and Role of Integrated Anatomic and Molecular Imaging.

Neurodegenerative diseases are a devastating group of disorders that can be difficult to accurately diagnose. Although these disorders are difficult to manage owing to relatively limited treatment options, an early and correct diagnosis can help with managing symptoms and coping with the later stages of these disease processes. Both anatomic structural imaging and physiologic molecular imaging have evolved to a state in which these neurodegenerative processes can be identified relatively early with high accuracy.

Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins.

Background: Mutations in pre-mRNA splicing factor PRPF31 can lead to retinitis pigmentosa (RP). Although the exact disease mechanism remains unknown, it has been hypothesized that haploinsufficiency might be involved in the pathophysiology of the disease.

Methods: In this study, we have analyzed a mouse model containing the p.

Thresholdless Detection of Symbols in Nano-Communication Systems.

Molecular communication (MC) can play an indispensable role in nanonetworking and internet of bio-nano things based applications. In most MC receivers, the detection of data symbols requires the optimal threshold, which depends on the accurate diffusion channel impulse response (DCIR), and statistics of noise and interference (SNI). In order to estimate these parameters, a training phase must be carried out.

Imaging in Circulatory Arrest: Lessons to be Learned.

Objective: This study describes the computed tomography (CT) features in patients with cardiac or circulatory arrest.

Methods: We retrospectively reviewed the CT of 5 patients (age range - 6-50 years) who had circulatory arrest while undergoing imaging, within a 12 month period in our Trauma and Emergency Centre. The presence or absence of contrast in the right and left chambers of heart, venous and arterial system, contrast density, and layering were assessed.

EUS-guided FNA in Diagnosing Pancreatic Lesions: Strength and Cytological Spectrum.

Introduction: Early and accurate diagnosis is paramount for improving the therapeutic efficacy of pancreatic cancers. Endoscopic ultrasonography-fine needle aspiration (EUS-FNA) cytology has come up with the advantage of an early and accurate diagnosis of pancreatic cancers. This study was conducted to analyze the spectrum of pancreatic lesions cytology, and appraise the diagnostic accuracy of EUS-FNA cytology for pancreatic solid and cystic lesions.