Ectodermal dysplasias: Classification and organization by phenotype,genotype and molecular pathway

An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non‐syndromic traits of the causative gene (e.g., non‐syndromic hypodontia or missing teeth associated with pathogenic variants of EDA “ectodysplasin”). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT “wingless‐type,” TP63 “tumor protein p63”) or the components of complex molecular structures (e.g., connexins, keratins, cadherins).     

Drive-thru pharmacy services: A way forward to combat COVID-19 pandemic

Countries around the globe have responded to pandemic preparedness and developed strategies to cope with the COVID-19 crisis. In this context, the role of healthcare professionals is of paramount importance. Pharmacists are playing a vital role in dealing, preparedness, prevention, protection, promoting access to medicines and to improve health outcomes during this crisis. In this context, “Drive-thru” pharmacy services improve access to medicines while ensuring the preventive measures suggested by the World Health Organization. This commentary provides an overview of opportunities and challenges related to the implementation of “drive-thru pharmacy services” and their role in improving public health during this crisis.     

Der Resektionsrand und seine Beurteilung

In recent years there has been an intensive discussion about how to define a negative surgical resection margin. Despite the impact of radiation and systemic therapy a positive margin in breast surgery is associated with an increased risk of local recurrence. Thus, a positive margin confirmed by the pathologist results in further surgery that is troublesome for the patient in several ways and can also delay the initiation of adjuvant treatment. Therefore, the field of intraoperative margin assessment was intensively investigated and methods and technologies have been developed to support the breast surgeon in the operating theater. Some of these developments, such as frozen sections, touch imprint cytology, intraoperative ultrasound and radiofrequency spectroscopy are now established in the clinical routine. Others, such as near-infrared optical imaging, X-ray diffraction, high-frequency ultrasound and micro-computed tomography (CT) are still in the experimental stage. This article illustrates the current status of defining a negative surgical margin and gives an overview of the various and innovative technologies for intraoperative margin assessment.     

What do we Know about Bullying in Syrian Adolescent Refugees? A Cross Sectional Study from Turkey

Psychiatric Quarterly - The aim of this study was to assess the bullying status of Syrian adolescent refugees in Turkey and identify factors that contribute to bullying. The adolescents aged...     

Amphetamine-Induced Dopamine Release and Neurocognitive Function in Treatment-Naive Adults with ADHD

Converging evidence from clinical, preclinical, neuroimaging, and genetic research implicates dopamine neurotransmission in the pathophysiology of attention deficit hyperactivity disorder (ADHD). The in vivo neuroreceptor imaging evidence also suggests alterations in the dopamine system in ADHD; however, the nature and behavioral significance of those have not yet been established. Here, we investigated striatal dopaminergic function in ADHD using [¹¹C]raclopride PET with a d-amphetamine challenge. We also examined the relationship of striatal dopamine responses to ADHD symptoms and neurocognitive function. A total of 15 treatment-free, noncomorbid adult males with ADHD (age: 29.87±8.65) and 18 healthy male controls (age: 25.44±6.77) underwent two PET scans: one following a lactose placebo and the other following d-amphetamine (0.3 mg/kg, p.o.), administered double blind and in random order counterbalanced across groups. In a separate session without a drug, participants performed a battery of neurocognitive tests. Relative to the healthy controls, the ADHD patients, as a group, showed greater d-amphetamine-induced decreases in striatal [¹¹C]raclopride binding and performed more poorly on measures of response inhibition. Across groups, a greater magnitude of d-amphetamine-induced change in [¹¹C]raclopride binding potential was associated with poorer performance on measures of response inhibition and ADHD symptoms. Our findings suggest an augmented striatal dopaminergic response in treatment-naive ADHD. Though in contrast to results of a previous study, this finding appears consistent with a model proposing exaggerated phasic dopamine release in ADHD. A susceptibility to increased phasic dopamine responsivity may contribute to such characteristics of ADHD as poor inhibition and impulsivity.     

Breastfeeding and complementary feeding as a public health intervention for child survival in India

The relevance of breastfeeding and complementary feeding as proven child survival interventions, is well documented by the scientific research. These two preventive interventions can save as many as 19% of all child deaths. However, despite the volume of evidence favouring mainstreaming of these interventions, many countries, including India are yet to achieve universal appropriate infant and young child feeding practices. This article attempts to explore the evidenced based role of these interventions in the crusade to save children, and looks into the present scenario of infant and young child feeding in India, along with a possible road map to achieve high rates of early and exclusive breastfeeding and appropriate complementary feeding in the country.     

Ectasia and severe atherosclerosis: relationships with chlamydia pneumoniae, helicobacterpylori, and inflammatory markers

To date, there has been no convincing evidence for an association between Chlamydia pneumoniae or Helicobacter pylori and ectasia. In this case-control study, we have investigated the association of H. pylori and C. pneumoniae seropositivity with ectasia, severe coronary atherosclerosis, and normal vessels, which were so classified by coronary angiography. We have also evaluated the influence of these infections on inflammatory markers such as high-sensitive C-reactive protein (hsCRP) and interleukin 6 (IL-6). Of the 796 patients undergoing coronary angiography for suspected ischemic heart disease, 244 patients were recruited. Of these, 91 had normal vessels, 88 had 3 or more obstructed vessels, and 65 had ectatic vessels without atherosclerosis. Eighty-seven atherosclerotic patients (98.9%) were positive for C. pneumoniae IgG, as were 64 ectatic patients (98.5%) and 76 controls (83.5%) (P < 0.001). Forty-two atherosclerotic patients (47.7%) were positive for C. pneumoniae IgM, as were 43 ectatic patients (66.2%) and 43 controls (47.3%) (P = 0.036). Seventy-two atherosclerotic patients (81.8%) were positive for H. pylori IgA, as were 26 ectatic patients (40.0%) and 44 controls (48.4%) (P < 0.001). High-sensitive CRP levels were significantly higher in ectatic patients (5.639 mg/L) than in controls (4.390 mg/L) (P = 0.032), and IL-6 levels were significantly higher in atherosclerotic patients (33.92 U/L) than in controls (14.01 U/L) (P < 0.001). Interleukin-6 levels were higher in H. pylori seropositive patients, and hsCRP levels were higher in C. pneumoniae seropositive patients, when compared with seronegatives. We suggest that, as in atherosclerosis, C. pneumoniae infection is related to ectasia, with raised CRP levels.