Diagnostic Approach to Macrocephaly in Children

Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally large head with an occipitofrontal circumference (OFC) >2 standard deviations (SD) above the mean for a given age and sex. Taking into account that about 2–3% of the healthy population has an OFC between 2 and 3 SD, macrocephaly is considered as “clinically relevant” when OFC is above 3 SD. This implies the urgent need for a diagnostic workflow to use in the clinical setting to dissect the several causes of increased OFC, from the benign form of familial macrocephaly and the Benign enlargement of subarachnoid spaces (BESS) to many pathological conditions, including genetic disorders. Moreover, macrocephaly should be differentiated by megalencephaly (MEG), which refers exclusively to brain overgrowth, exceeding twice the SD (3SD—“clinically relevant” megalencephaly). While macrocephaly can be isolated and benign or may be the first indication of an underlying congenital, genetic, or acquired disorder, megalencephaly is most likely due to a genetic cause. Apart from the head size evaluation, a detailed family and personal history, neuroimaging, and a careful clinical evaluation are crucial to reach the correct diagnosis. In this review, we seek to underline the clinical aspects of macrocephaly and megalencephaly, emphasizing the main differential diagnosis with a major focus on common genetic disorders. We thus provide a clinico-radiological algorithm to guide pediatricians in the assessment of children with macrocephaly.

State-of-the-Art Clinical Microbiology in South Korea: Current Trends and Future Prospects

Researchers and clinicians have repeatedly explored the clinical aspects of microorganisms because the human body is inhabited by several different microbial species and their strains [...]

Botulinum toxin as adjuvant therapy for hypertonic dysfunction in a neuro-rehabilitation cohort

Purpose: Botulinum toxin (BTX) is a neurotoxin produced by the bacterium Clostridium botulinum, in recent decades, BTX has become an important adjunct treatment to neurological or rehabilitative strategies.We aimed to describe the clinical aspects of patients admitted to a rehabilitation hospital who were treated with BTX for spasticity and dystonia. Methods: This was a historical cohort; data was collected from the electronic charts of all outpatients treated with BTX between 2014 and 2016 in the spasticity and movement disorders service of a quaternary, open access, rehabilitation hospital. The inclusion criteria were limb spasticity due to traumatic brain injury (TBI), and stroke; limb tremor; cervical dystonia; and generalized limb dystonia from any cause in addition to pain that limits rehabilitation. We used relatively lower doses than those generally published in the literature. Therapeutic response was determined by the Goal attainment scale (GAS), pain (graded by visual analogue scale ), independence for daily living activities, target joint range of motion (pre- and post-application), and gait analysis (only for walkers patients). Results: A total of 63 patients were enrolled in this study with a mean follow-up of 2 years. There was significant improvement in joint restriction ) with 66.7% of patients reporting improvement in the GAS scale, best improvement occurred with ortheses and limb adjustments. Conclusions: Most patients have improved functionality on the GAS scale after treatment with BTX, which is used as an adjunct therapy in subjects already in rehabilitation programs. The main rehabilitation objectives with the GAS scale were achieved in most patients.

The outpatient medical care in patients with chronic diseases under dispensary supervision in the conditions of the COVID-19 pandemic. Temporary guidelines. Version 2

Guidelines were approved at the meeting of the academic council of the National Medical Research Center for Therapy and Preventive Medicine, Moscow (Protocol No. 10 of 19.10.2021).The aim of these guidelines is to provide primary care physicians with scientifically based algorithms for the implementation of dispensary monitoring in patients with chronic non-communicable diseases in the conditions of the new coronavirus infection (COVID-19) pandemic, including the use of telemedicine technologies.The organization and conduct of high-quality medical follow-up are the most important tasks aimed at both reducing the risks of developing complications of chronic non-communicable diseases and reducing overall mortality, especially in the current conditions of the COVID-19 pandemic. The guidelines contain clinical aspects of dispensary follow-up, general principles of tactics for managing patients with various chronic non-communicable diseases in COVID-19 conditions, in addition, brief checklists with options for interviewing patients with various chronic non-communicable diseases are presented, topical aspects of the interaction of drugs used in the treatment of chronic non-communicable diseases with antiviral drugs are considered.The guidelines are intended for general practitioners, district therapists, general practitioners (family doctors), as well as doctors of other specialties providing primary health care.

Scleral Buckling: A Review of Clinical Aspects and Current Concepts

Scleral buckling represents a valuable treatment option for rhegmatogenous retinal detachment repair. The surgery is based on two main principles: the closure of retinal breaks and the creation of a long-lasting chorioretinal adhesion. Buckles are placed onto the sclera with the purpose of sealing retinal breaks. Cryopexy is usually performed to ensure a long-lasting chorioretinal adhesion. Clinical outcomes of scleral buckling have been shown to be more favorable in phakic eyes with uncomplicated or medium complexity retinal detachment, yielding better anatomical and functional results compared with vitrectomy. Several complications have been described following scleral buckling surgery, some of which are sight-threatening. Expertise in indirect ophthalmoscopy is required to perform this type of surgery. A great experience is necessary to prevent complications and to deal with them. The use of scleral buckling surgery has declined over the years due to increasing interest in vitrectomy. Lack of confidence in indirect ophthalmoscopy and difficulties in teaching this surgery have contributed to limiting its diffusion among young ophthalmologists. The aim of this review is to provide a comprehensive guide on technical and clinical aspects of scleral buckling, focusing also on complications and their management.

The Decision-Making Process for Palliative Sedation for Patients with Advanced Cancer–Analysis from a Systematic Review of Prospective Studies

Background. The involvement of patients in decision making about their healthcare plans is being emphasized. In the context of palliative sedation, it is unclear how these decisions are made and who are involved in. The aim of the study is to understand how this decision-making is taken. Method. Information from a systematic review on clinical aspects of palliative sedation prospective studies were included. PubMed, CINAHL, Cochrane, MEDLINE, and EMBASE were searched (January 2014–December 2019). Data extraction and analysis regarded: (a) When and by whom the decision-making process is initiated; (b) patient involvement; (c) family involvement and (d) healthcare involvement. Results. Data about decision making were reported in 8/10 included articles. Palliative sedation was reported in 1137 patients (only 16 of them were non-cancer). Palliative sedation was introduced by the palliative care team during the disease process, at admission, or when patients experienced refractory symptoms. Only two studies explicitly mentioned the involvement of patients in decision making. Co-decision between families and the regular health care professionals was usual, and the health care professionals involved had been working in palliative care services. Conclusion. Patient participation in decision making appeared to be compromised by limited physical or cognitive capacity and family participation is described. The possibility of palliative sedation should be discussed earlier in the disease process.

Breast Cancer Tumor Microenvironment and Molecular Aberrations Hijack Tumoricidal Immunity

Breast cancer is the most common malignancy among females in western countries, where women have an overall lifetime risk of >10% for developing invasive breast carcinomas. It is not a single disease but is composed of distinct subtypes associated with different clinical outcomes and is highly heterogeneous in both the molecular and clinical aspects. Although tumor initiation is largely driven by acquired genetic alterations, recent data suggest microenvironment-mediated immune evasion may play an important role in neoplastic progression. Beyond surgical resection, radiation, and chemotherapy, additional therapeutic options include hormonal deactivation, targeted-signaling pathway treatment, DNA repair inhibition, and aberrant epigenetic reversion. Yet, the fatality rate of metastatic breast cancer remains unacceptably high, largely due to treatment resistance and metastases to brain, lung, or bone marrow where tumor bed penetration of therapeutic agents is limited. Recent studies indicate the development of immune-oncological therapy could potentially eradicate this devastating malignancy. Evidence suggests tumors express immunogenic neoantigens but the immunity towards these antigens is frequently muted. Established tumors exhibit immunological tolerance. This tolerance reflects a process of immune suppression elicited by the tumor, and it represents a critical obstacle towards successful antitumor immunotherapy. In general, immune evasive mechanisms adapted by breast cancer encompasses down-regulation of antigen presentations or recognition, lack of immune effector cells, obstruction of anti-tumor immune cell maturation, accumulation of immunosuppressive cells, production of inhibitory cytokines, chemokines or ligands/receptors, and up-regulation of immune checkpoint modulators. Together with altered metabolism and hypoxic conditions, they constitute a permissive tumor microenvironment. This article intends to discern representative incidents and to provide potential innovative therapeutic regimens to reinstate tumoricidal immunity.

The Burden of COVID-19 in Children and Its Prevention by Vaccination: A Joint Statement of the Israeli Pediatric Association and the Israeli Society for Pediatric Infectious Diseases

As of October 2021, SARS-CoV-2 infections were reported among 512,613 children and adolescents in Israel (~33% of all COVID-19 cases). The 5–11-year age group accounted for about 43% (223,850) of affected children and adolescents. In light of the availability of the Pfizer-BioNTech BNT162b2 vaccine against COVID-19 for children aged 5–11 years, we aimed to write a position paper for pediatricians, policymakers and families regarding the clinical aspects of COVID-19 and the vaccination of children against COVID-19. The first objective of this review was to describe the diverse facets of the burden of COVID-19 in children, including the direct effects of hospitalization during the acute phase of the disease, multisystem inflammatory syndrome in children, long COVID and the indirect effects of social isolation and interruption in education. In addition, we aimed to provide an update regarding the efficacy and safety of childhood mRNA COVID-19 vaccination and to instill confidence in pediatricians regarding the benefits of vaccinating children against COVID-19. We reviewed up-to-date Israeli and international epidemiological data and literature regarding COVID-19 morbidity and its sequelae in children, vaccine efficacy in reducing COVID-19-related morbidity and SARS-CoV-2 transmission and vaccine safety data. We conducted a risk–benefit analysis regarding the vaccination of children and adolescents. We concluded that vaccines are safe and effective and are recommended for all children aged 5 to 11 years to protect them from COVID-19 and its complications and to reduce community transmissions. Based on these data, after weighing the benefits of vaccination versus the harm, the Israeli Ministry of Health decided to recommend vaccination for children aged 5–11 years.