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Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset and an intermediate proximo-distal phenotype. We report a case of dysferlinopathy and discuss relevant clinical, pathological and genetic data. Material and methods. We present the case of a 36 years old man with more than ten years history of progressive muscle weakness and atrophies in the distal lower limbs. He had a first clinical evaluation at the age of 24 years and a muscle biopsy was performed but it was inconclusive. On current admission, he presented with clinical suspicion of Charcot-Marie-Tooth disease, but because of increased serum creatine kinase levels and EMG (electromyography) findings of myopathy, another muscle biopsy was recommended. The muscle tissue obtained was analysed by histopathology, immunohistochemistry, and Western blot techniques, and also a genetic confirmation was recommended. Results. Based on morphological findings, electrodiagnostic study results and clinical context, the diagnosis of primary dysferlinopathy was established, supported by genetic data. Conclusions. The diagnosis may be challenging in these rare genetic myopathies, due to the high variability of phenotypes, ranging from asymptomatic hyperCKemia (high serum creatine kinase level) to a severe clinical picture with loss of ambulation. Repeated evaluation, increasing access to genetic testing and a multidisciplinary approach made an accurate diagnosis possible in our case.

It is known that, among chronic liver diseases, the most common cause of morbidity and/or mortality is hepatocellular carcinoma. Due to the fact that most patients are diagnosed with advanced disease, surgical resection is no longer possible. These patients constitute the ideal group for transarterial chemoembolization, which consists of the local infusion of a mixture of chemotherapeutic agents, which will cause the suppression of blood supply of the cancerous lesions, the induction of ischemia, followed by the necrosis of the tumor tissue, with a considerable improvement in the survival rate.

Background Critically ill cancer patients have an increased risk of developing acute neurological signs. The study objective was to evaluate the use and the usefulness of emergency head computed tomography (EHCT) in this category of patients. Patients and methods This retrospective, single-centre, cohort study included patients with EHCT performed during Intensive Care Unit (ICU) admission for a period of three years. Indications, imagistic findings, type of malignancy, and outcome were evaluated to identify diagnostic yield and correlations between abnormal findings on positive scans, malignancy type, and mortality rate. Results Sixty-four EHCTs were performed in 54 critically ill cancer patients, with 32 scans (50%) showing previously unknown lesions and considered to be positive. The most frequent abnormal findings were ischemic (15 EHCTs, 47%) and haemorrhagic (13 EHCTs, 40%) lesions. Thirty-eight EHCTs (59%) were indicated for altered mental status, with a positivity rate of 50%. Eighteen EHCTs (48%) were performed in hematological malignancy patients: 9 (50%) of which were positive with 8/9 (89%) displaying hemorrhagic lesions. Twenty EHCTs were performed in solid tumour patients, 10 (50%) of which were positive, with 9/10 (90%) displaying ischemic lesions. Out of 54 patients, 30 (55%) died during ICU stay. The mortality rate was higher in patients with hematological malignancies and positive EHCT (78% vs. 58%). Conclusions Diagnostic yield of EHCT in critically ill cancer patients is much higher than in other categories of ICU patients. We support the systematic use of EHCT in critically ill, mainly hemato-oncological patients with nonspecific neurological dysfunction, as it may lead to early identification of intracranial complications.

Mutations in nuclear-encoded protein subunits of the mitochondrial ribosome are an increasingly recognised cause of oxidative phosphorylation system (OXPHOS) disorders. Among them, mutations in the MRPL44 gene, encoding a structural protein of the large subunit of the mitochondrial ribosome, have been identified in four patients with OXPHOS defects and early-onset hypertrophic cardiomyopathy with or without additional clinical features. A 23-year-old individual with cardiac and skeletal myopathy, neurological involvement, and combined deficiency of OXPHOS complexes in skeletal muscle was clinically and genetically investigated. Analysis of whole-exome sequencing data revealed a homozygous mutation in MRPL44 (c.467 T > G), which was not present in the biological father, and a region of homozygosity involving most of chromosome 2, raising the possibility of uniparental disomy. Short-tandem repeat and genome-wide SNP microarray analyses of the family trio confirmed complete maternal uniparental isodisomy of chromosome 2. Mitochondrial ribosome assembly and mitochondrial translation were assessed in patient derived-fibroblasts. These studies confirmed that c.467 T > G affects the stability or assembly of the large subunit of the mitochondrial ribosome, leading to impaired mitochondrial protein synthesis and decreased levels of multiple OXPHOS components. This study provides evidence of complete maternal uniparental isodisomy of chromosome 2 in a patient with MRPL44-related disease, and confirms that MRLP44 mutations cause a mitochondrial translation defect that may present as a multisystem disorder with neurological involvement.

The unprecedented climate of the COVID-19 pandemic has some restrictions on oral care operational services, which heavily impacted the delivery of aerosol generating procedures (AGPs). This led the health authorities to set up guidelines and policies that should be followed to minimize the virus spread and ensure safe and effective dental care delivery. This systemic review aimed to evaluate the current guidelines and strategies in providing safe dental services and ensuring efficacy of the current universal personal preventive and protective measures, as well the impact that this outbreak might have on practicing the dental profession in full scope. The review focus questions were as follows: are the current guidelines and measures in literature mitigated enough to ensure safe and effective oral care delivery to patients during the COVID-19 pandemic? Is it possible to highlight the essential and fundamental cross-infection control measures and policies? Twenty articles were chosen out of 180,248 after the inclusion and exclusion criteria were applied in the period between January 1st and August 1st 2020. Our results highlighted effective safety measures that can be implanted in protecting healthcare professionals and patients and ensuring optimal dental care delivery in a safe and healthy environment, taking into consideration the risk assessment and management of AGPs. In conclusion, informative updated standardized policies and protocols are required when more knowledge on the virus behavior keeps evolving. Moreover, there is a need for evidence-based protective measures to be modified on a regular basis to be followed, until a safe vaccine is produced.

Background: In general, the role of vitamin D, [25 (OH)D], is to regulate calcium and phosphate metabolism by bone remodeling but the studies, in the recent decades, shown that low exposure at the sun and vitamin D deficiency are associated with the increased risk of many other extra-skeletal disorders, such as cancer diseases. Content: Several original studies and meta-analyses have evaluated the role of vitamin D in cancer prevention or the potential to improve cancer treatment outcomes. The broad field of antitumor effects of calcitriol and analogues in the treatment of cancer, as single agents or in combination with other anticancer agents, is mainly based on the mechanisms of inhibition of cancer cell proliferation and invasiveness, induction of differentiation, apoptosis and the promotion of angiogenesis. Summary and Outlook: The scientific evidence suggests that the provider of health care should consider the increasing of concentrations of 25 (OH) D through sun exposure or by supplementing with vitamin D of people with different ages to reduce the risk ills with Vitamin D deficiency besides the standard treatment of some chronic diseases, inclusive cancer disease beside the specific personalized antineoplastic treatments for every malignant disease.

In a group of 208 patients with chronic ischaemic heart disease, the variation of A2-associated-LDL phosphatase (Lp-PLA2) serum concentration values was analysed in dynamics at a two-week interval. The conclusion of the study is that the values of serum concentration of Lp-PLA2 can be accepted as a biomarker with diagnostic specificity for chronic ischaemic heart disease, a parameter of real utility in medical practice, both in situations where the patient, although clinically reporting the existence of angina pectoris, does not show specific changes on an EKG, and for the assessment of the response to personalised therapy.

Background/aim The aim of the study was to assess the relationship between myocardial fibrosis characteristics (percentage, localization, heterogeneity), evaluated by a non-invasive method such as cardiac magnetic resonance (CMR), with the extrasystolic ventricular arrhythmia in patients with non-ischemic cardiomyopathy. Patients and methods The study prospectively included 173 consecutive patients who underwent electrocardiogram Holter monitoring, transthoracic echocardiography and CMR with late gadolinium enhancement (LGE). Results In univariate analysis, both the presence (OR=1.05, 95% CI=1.01-1.09; p=0.015), the percentage of fibrosis >15% (p=0.018), the septum size, the fibrosis in either lateral or septal walls (p=0.004), as well as fibrosis in the midwall (p=0.019) were statistically significant higher in the group with extrasystolic arrhythmia. After adjustment, the percentage of fibrosis >15%, had higher odds of extra systolic arrhythmia [OR=3.78 (95% CI=1.52-10.62, p=0.007)]. Conclusion The presence, percentage, and localisation of left ventricle myocardial fibrosis characterized by LGE-CMR was associated with ventricular arrhythmias.

Background. Coronary collateral flow influences patient prognosis in the setting of acute myocardial infarction. However, few data exist about the relation between coronary collaterals, infarct size, and reperfusion injury. The angiographic Rentrop score is prone to subjectivism and to the inherent limitations of angiographic images. Its prognostic value is controversial in the setting of acute myocardial infarction. The invasive measurement of coronary wedge pressure (CWP) represents an alternative to Rentrop score for the evaluation of coronary collateralization. Our study evaluates pre-revascularization CWP as a predictor of infarct size and reperfusion injury as evaluated by cardiac magnetic resonance imaging. Methods. Patients with acute ST-elevation myocardial infarction underwent preprocedural CWP measurement and primary percutaneous coronary intervention. Infarct size, microvascular obstruction, intramyocardial edema, and intramyocardial hemorrhage were evaluated by cardiac magnetic resonance imaging. Results. Mean CWP was inversely associated with infarct size p=0.01, microvascular obstruction p=0.02, intramyocardial edema p=0.05, and intramyocardial hemorrhage p=0.01. An excellent association was found between mean CWP and an infarct size ≥24% of left ventricular mass (AUC = 0.880, p=0.007), with an optimal cutoff value ≤24.5 mmHg. Both intramyocardial edema p=0.02 and hemorrhage p=0.03 had a larger extent in patients with coronary wedge pressure ≤24.5 mmHg. Rentrop grade p=0.03, but not with the extent of edema, microvascular obstruction, or intramyocardial hemorrhage. Conclusions. Pre-revascularization CWP was a predictor of infarct size and was significantly associated with a larger extent of intramyocardial edema and intramyocardial hemorrhage. Rentrop grade NCT03371784.

Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia, with de novo heterozygous and bi-allelic mutations in asparaginyl-tRNA synthetase (NARS1). We demonstrate a reduction in NARS1 mRNA expression as well as in NARS1 enzyme levels and activity in both individual fibroblasts and induced neural progenitor cells (iNPCs). Molecular modeling of the recessive c.1633C>T (p.Arg545Cys) variant shows weaker spatial positioning and tRNA selectivity. We conclude that de novo and bi-allelic mutations in NARS1 are a significant cause of neurodevelopmental disease, where the mechanism for de novo variants could be toxic gain-of-function and for recessive variants, partial loss-of-function.

Idiopathic inflammatory myopathies (IIM) represent a heterogeneous group of autoimmune diseases whose treatment is often a challenge. Many patients, even after immunosuppressive therapy, do not respond to treatment, so new alternatives have been sought for this. Therefore, other signaling pathways that could contribute to the pathogenesis of myositis have been investigated, such as the expression of myokines in skeletal muscle in response to the inflammatory process. In this review, we will refer to these muscle cytokines that are overexpressed or downregulated in skeletal muscle in patients with various forms of IIM, thus being able to contribute to the maintenance of the autoimmune process. Some muscle cytokines, through their antagonistic action, may be a helpful contributor to the disease modulation, and thus, they could represent personalized treatment targets. Here, we consider the main myokines involved in the pathogenesis of myositis, expressing our view on the possibility of using them as potential therapeutic targets: interleukins IL-6, IL-15, and IL-18; chemokines CXCL10, CCL2, CCL3, CCL4, CCL5, and CCL20; myostatin; follistatin; decorin; osteonectin; and insulin-like 6. An interesting topic regarding the complex connection between myokines and noninflammatory pathways implied in IIM has also been briefly described, because it is an important scientific approach to the pathogenesis of IIM and can be a therapeutic alternative to be considered, especially for the patients who do not respond to immunosuppressive treatment.

The present article explores the usage of calcium alginate in the actual management of diabetic mellitus foot ulcers. A retrospective study was performed on 305 cases of patients with diabetic mellitus foot diagnostic, admitted to Surgery Clinic II of �Sf. Ap. Andrei� Emergency Clinical Hospital, Galati, in the period between 1st October 2015 and 31st October 2019, for which calcium alginate dressings had been used. Calcium alginate (C12H14CaO12)n dressings had been applied to all patients from the series (n=305), with favorable evolution in 97.7 % cases, the dressing being replaced at 48 hours and the average duration for injury�s healing oscillating from 21 up to 50 days.

Homeobox B13 (HOXB13) and trefoil factor 3 (TFF3) are novel candidates for the classification of prostate cancer (PC) in molecular subtypes that could predict the clinical evolution of patients. The aim of our study was to analyze the possible associations between HOXB13 and TFF3 immunohistochemical (IHC) expression in sporadic prostate adenocarcinoma (PAC), the potential prognostic value in relation to the classical clinico-pathological parameters, as well as their role in defining distinct molecular subtypes of this malignancy. The study group comprised 105 patients diagnosed with PAC who underwent radical prostatectomy. IHC exam was performed using anti-HOXB13 and anti-TFF3 antibodies and a scoring system that permit the separation of the cases into two subgroups, with low and high immunoexpression, respectively. The statistical analysis evaluated the relationship between the two immunomarkers and clinico-pathological parameters. The Kaplan-Meier curves and log-rank Mantel-Cox test were used for assessing the prostate-specific antigen (PSA)-progression free survival. Four subgroups of PAC were defined based on the IHC overexpression and low immunoexpression of HOXB13 and TFF3. High HOXB13 and TFF3 immunoexpression was commonly identified in cases characterized by a Gleason score over 7, a G4 or G5 dominant pattern, a grade group of 3 or 4 and a preoperatory PSA serum level over 20 ng/mL. HOXB13 overexpression was also associated with pathological tumor-node-metastasis (pTNM) stage. The subgroup with both low HOXB13 and TFF3 immunoexpression had the highest PSA-progression free interval, whereas the subgroup with high HOXB13 immunoexpression and low TFF3 immunoexpression presented the lowest rate, but no statistically significant differences were registered. Our results sustain the role of HOXB13 and TFF3 in the stratification of PAC. Further investigations in larger cohorts are imposed to validate the clinical significance of these subgroups in the diagnostic and prognostic of PAC.

Deep neck space infections are of great risk for patients considering even death in certain cases. Collection of purulent secretions that can accumulate in a particular region of the neck is due to the anatomy of the deep neck fascia, muscles of the neck and compartments for blood vessels and organs in the neck region. Deep neck spaces communicate with each other and in some patients with morbidities like diabetes or other form of immuno-suppression extension can be great. Ludwig's angina is a form of abscess of the floor of the mouth with origin in teeth located on the mandible. Like any other abscess medical and surgical therapy are ways of treatment, but incision and drainage are mandatory. However, surgical management of such a complication might include other type of surgery as tracheostomy, blood vessels ligation, resection of necrotic tissue or even reconstruction.

Background: Prehospital pediatric endotracheal intubation (ETI) is rarely performed. Previous research has suggested that pediatric prehospital ETI, when performed by ground advanced life support c...

Atopic dermatitis (AD) is a chronic inflammatory skin disease with a relapsing course that has a significant impact on the quality of life of both patients and their families. The pathogenesis of AD is due to a multitude of factors and can be associated with other allergy-related diseases, including asthma, food allergies or rhinitis. Treatment of AD aims to reduce duration, severity, and frequency of disease exacerbations. Understanding the maintenance of skin barrier integrity by continuing the use of basic therapy can prevent breaks. Patient and family education is important.

Objectives Management of spontaneous pneumomediastinum in the pediatric population is highly variable. There are limited data on the use of diagnostic tests and the need for admission. Our objectives were to characterize the management of pediatric spontaneous pneumomediastinum, determine the diagnostic yield of advanced imaging, and describe the patients' outcomes. Methods This is a retrospective cohort study of all patients presenting to a single tertiary pediatric emergency department between January 2008 and February 2015 diagnosed with pneumomediastinum. Patients were identified using 2 complementary strategies: International Classification of Diseases, Ninth Revision billing codes and a keyword search of the hospital radiology database. Results We identified 183 patients with spontaneous pneumomediastinum. The mean age was 12.8 ± 4.8 years. Diagnosis was established by chest radiograph (CXR) in 165 (90%) patients, chest computed tomography in 15 (8%), neck imaging in 2 (1%), and abdominal imaging in 1. After diagnosis, many patients underwent additional studies: repeat CXR (99, 54%), chest computed tomography (53, 29%), esophagram (45, 25%), and laryngoscopy (15, 8%). Seventy-eight percent of patients (n = 142) were admitted with a median length of stay of 27 hours (18.4-45.6 hours). Six patients returned to the emergency department within 96 hours for persistent chest pain; 2 were admitted, and 1 was found to have worsening pneumomediastinum on CXR. We performed a secondary analysis on 3 key subgroups: primary spontaneous pneumomediastinum (64, 35%), secondary gastrointestinal-associated pneumomediastinum (31, 17%), and secondary respiratory-associated pneumomediastinum (88, 48%). No patients in the study received an invasive intervention for pneumomediastinum. In all patients, further studies did not yield additional diagnostic information. Conclusions Our data suggest that patients with spontaneous pneumomediastinum who are clinically well appearing can be managed conservatively with clinical observation, avoiding exposure to radiation and invasive procedures.

The justification for choosing and this enzyme marker to investigate the variation in serum concentration is supported by at least two arguments: cytokine myeloperoxidase at the level of the hypocritical myocardium, with or without contractile deficiency, can be secreted by any type of component or resident in the myocardium In cardiac failure, one of the forms that responds to the oxidative stress existing in the disease is MPO secretion that occurs early after some authors even during Class I contractile myocardial deficiency (NYHA classification).

Parkinson’s disease (PD) is characterized by alpha-synuclein misfolding with subsequent intraneuronal amyloid formation and accumulation, low grade neuroinflammatory changes, and selective neurodegeneration. Available evidence suggests that the pathology usually begins in the gut and olfactory mucosa, spreading to the brain via the vagus and olfactory nerves, by a prion-like mechanism. A causal relationship has not been established, but gut dysbiosis is prevalent in PD and may lead to intestinal inflammation and barrier dysfunction. Additionally, epidemiological data indicate a link between inflammatory bowel diseases and PD. Calprotectin and zonulin are markers of intestinal inflammation and barrier permeability, respectively. We evaluated their serum and fecal levels in 22 patients with sporadic PD and 16 unmatched healthy controls. Mean calprotectin was higher in PD, both in serum (14.26 mcg/ml ± 4.50 vs. 5.94 mcg/ml ± 3.80, p = 0.0125) and stool (164.54 mcg/g ± 54.19 vs. 56.19 mcg/g ± 35.88, p = 0.0048). Mean zonulin was also higher in PD serum (26.69 ng/ml ± 3.55 vs. 19.43 ng/ml ± 2.56, p = 0.0046) and stool (100.19 ng/ml ± 28.25 vs. 37.3 ng/ml ± 13.26, p = 0.0012). Calprotectin was above the upper reference limit in 19 PD serums and 6 controls (OR = 10.56, 95% CI = 2.17–51.42, p = 0.0025) and in 20 PD stool samples and 4 controls (OR = 30, 95% CI = 4.75–189.30, p = 0.000045). Increased zonulin was found only in the stool samples of 8 PD patients. Despite the small sample size, our findings are robust, complementing and supporting other recently published results. The relation between serum and fecal calprotectin and zonulin levels and sporadic PD warrants further investigation in larger cohorts.

Macrophages (MCs) are present in all tissues, not only supporting homeostasis, but also playing an important role in organogenesis, post-injury regeneration, and diseases. They are a heterogeneous cell population due to their origin, tissue specificity, and polarization in response to aggression factors, depending on environmental cues. Thus, as pro-inflammatory M1 phagocytic MCs, they contribute to tissue damage and even fibrosis, but the anti-inflammatory M2 phenotype participates in repairing processes and wound healing through a molecular interplay with most cells in adult stem cell niches. In this review, we emphasize MC phenotypic heterogeneity in health and disease, highlighting their systemic and systematic contribution to tissue homeostasis and repair. Unraveling the intervention of both resident and migrated MCs on the behavior of stem cells and the regulation of the stem cell niche is crucial for opening new perspectives for novel therapeutic strategies in different diseases.

Immune axonal neuropathies are a particular group of immune-mediated neuropathies that occasionally accompany systemic autoimmune rheumatic diseases such as connective tissue dissorders and primary systemic vasculitides. Apart from vasculitis of vasa nervorum, various other mechanisms are involved in their pathogenesis, with possible therapeutic implications. Immune axonal neuropathies have highly heterogeneous clinical presentation and course, ranging from mild chronic distal sensorimotor polyneuropathy to severe subacute mononeuritis multiplex with rapid progression and constitutional symptoms such as fever, malaise, weight loss and night sweats, underpinning a vasculitic process. Sensory neuronopathy (ganglionopathy), small fiber neuropathy (sensory and/or autonomic), axonal variants of Guillain-Barré syndrome and cranial neuropathies have also been reported. In contrast to demyelinating neuropathies, immune axonal neuropathies show absent or reduced nerve amplitudes with normal latencies and conduction velocities on nerve conduction studies. Diagnosis and initiation of treatment are often delayed, leading to accumulating disability. Considering the lack of validated diagnostic criteria and evidence-based treatment protocols for immune axonal neuropathies, this review offers a comprehensive perspective on etiopathogenesis, clinical and paraclinical findings as well as therapy guidance for assisting the clinician in approaching these patients. High quality clinical research is required in order to provide indications and follow up rules for treatment in immune axonal neuropathies related to systemic autoimmune rheumatic diseases.

Thoracic aortic aneurysms may result in dissection with fatal consequences if undetected. A young male patient with no relevant familial history, after having been investigated for hypertension, was diagnosed with an ascending aortic aneurysm involving the aortic root and the proximal tubular segment, associated with a septal atrial defect. The patient underwent a Bentall surgery protocol without complications. Clinical examination revealed dorso–lumbar scoliosis and no other signs of underlying connective tissue disease. Microscopic examination revealed strikingly severe medial degeneration of the aorta, with areas of deep disorganization of the medial musculo–elastic structural units and mucoid material deposition. Genetic testing found a variant of unknown significance the PRKG1 gene encoding the protein kinase cGMP-dependent 1, which is important in blood pressure regulation. There may be genetic links between high blood pressure and thoracic aortic aneurysm determinants. Hypertension was found in FBN1 gene mutations encoding fibrillin and in PRKG1 mutations. Possible mechanisms involving the renin–angiotensin system, the role of oxidative stress, osteopontin, epigenetic modifications and other genes are reviewed. Close follow-up and strict hypertension control are required to reduce the risk of dissection. Hypertension, scoliosis and other extra-aortic signs suggesting a connective tissue disease are possible clues for diagnosis.

Atopic dermatitis (AD) is affected by both internal factors as psychological stress (1) and external factors as climatec (2) and lifestyle (3). With the widespread adoption of smartphones, this offers a novel vehicle to collect data in real-time from a real-world setting. The aim of this study was to leverage mobile technology to conduct a fully remote longitudinal 12-weeks study in which a high-frequent sampling of both actively and passively collected data was used to explore disease and trigger associations within AD.

This special report was developed to communicate policy and procedures for free-standing acute inpatient rehabilitation hospitals (AIRHs) to protect patients and healthcare personnel and to prevent further spread of severe acute respiratory syndrome coronavirus 2. The recommended policies were developed in conjunction with the New Mexico Department of Health and hospital leadership. As we attain additional knowledge and experience during this pandemic, suggestions of best practice will continue to evolve for AIRHs. The authors encourage readers to work with local regulatory officials to ensure regulatory compliance as well as respect of the availability of local resources., Lay abstract This special report communicates potential policy and procedure modifications for free-standing acute inpatient rehabilitation hospitals in response to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)/coronavirus disease (COVID-19) pandemic. The goal of the communication is to help protect patients and healthcare personnel and to prevent further spread of SARS-CoV-2. The recommendations were developed in conjunction with the New Mexico Department of Health and hospital leadership. A comprehensive response policy to SARS-CoV-2/COVID-19 should include facility changes, enhanced personal protective equipment policy, enhanced admission policy and enhanced surveillance testing policy. In the setting of rapidly changing state and federal guidelines, hospital staff should work with state officials to ensure that potential policy and procedure modifications are in line with state and federal recommendations.

Background: Immunocompromised status keeps on being a challenge for a physician, especially in the context of the coronavirus disease – 19 (COVID-19) pandemic. The predominant clinical presentations are related to the respiratory system, but neurological manifestations are recognized increasingly. Cases of myelitis associated with the new coronavirus infection have already been published, but no cases of HIV-positive patients with myelitis and COVID-19 have been reported yet. Material and methods: This study described a clinical case of a human-immunodeficiency virus (HIV) – positive patient, who developed an acute transverse myelitis with confirmed SARS-CoV-2 infection. Results: Magnetic Resonance Imaging examination showed longitudinally extensive spinal cord abnormality, and laboratory tests confirmed SARS-CoV-2 infection. The patient responded to methylprednisolone pulse therapy, followed by oral corticosteroids and therapeutic plasma exchange. Conclusions: Continuing pandemic and the expectation that a large part of the world population will be infected suggest that the number of patients with neurological manifestations could become large. Curious neurologic constellations can appear which complicate the diagnostic process and treatment in certain patients.

Primary cutaneous CD30-positive lymphoproliferative disorders represent the second most common subgroup of cutaneous T-cell lymphomas and include lymphomatoid papulosis, primary cutaneous anaplastic large cell lymphoma, and borderline lesions. Primary cutaneous anaplastic large cell lymphoma is characterized by the presence of solitary or localized nodules or tumors located on the extremities or the cephalic or cervical region. Large plaque parapsoriasis is a chronic inflammatory disorder that associates a high risk of progression to mycosis fungoides. We report a case of CD30+ primary cutaneous anaplastic large cell lymphoma in a patient with a long history of large plaque parapsoriasis.

Background. The aim of the study was to present the PET/CT imaging features in a small series of asymptomatic patients with known cancer pathologies, infected with the SARS-CoV-2 virus, which were incidentally discovered during their monitoring scan of F18-FDG PET/CT. Methods. We included in our study a number of five cases (3 female and 2 male) out of 478 patients examined by F18-FDG PET/CT between March – April 2020, with confirmed diagnostic of cancer. Four patients had lung damages suggestive for the mentioned viral infection and 1 patient had multiple lung metastases from thyroid cancer. All patients were asymptomatic for acute respiratory disease at the time of examination, being subsequently confirmed for the viral infection by specific PCR analysis. Results. The asymptomatic positive SARS-CoV-2 cancer patients discovered incidentally in PET/CT F18-FDG represent 0.83% and their imaging characteristics were suggestive for high FDG activity in the lung despite the lack of respiratory symptoms. Conclusion. The SARS CoV-2 viral infection in asymptomatic cancer patients is a very rare possibility, but represents a challenging scenario both for the differential diagnosis in cancer and also for the epidemiologic context.

Asphyxial cardiac arrest (CA) is a significant cause of death and disability in children. Using juvenile Osteogenic disorder Shionogi (ODS) rats that, like humans, do not synthesize ascorbate, we tested the effect of ascorbate deficiency on functional and histological outcome after CA.Postnatal day 16-18 milk-fed ODS and wild-type Wistar rats underwent 9-min asphyxial CA (n = 8/group) or sham surgery (n = 4/group). ODS mothers received ascorbate in drinking water to prevent scurvy. Levels of ascorbate and glutathione (GSH) were measured in plasma and hippocampus at baseline and after CA. Neurologic deficit score (NDS) was measured at 3, 24, and 48 h and hippocampal neuronal counts, neurodegeneration, and microglial activation were assessed at day 7.ODS rats showed depletion of plasma and hippocampal ascorbate, attenuated hippocampal neurodegeneration and microglial activation, and increased CA1 hippocampal neuron survival vs. Wistar rats while NDS were similar. Hippocampal GSH levels were higher in ODS vs. Wistar rats at baseline and 10 min, whereas hypoxia-inducible factor-1α levels were higher in Wistar vs. ODS rats at 24 , after CA.Ascorbate-deficient juvenile ODS rats appear resistant to neurodegeneration produced by asphyxia CA, possibly related to upregulation of the endogenous antioxidant GSH in brain.Like humans and unlike other rodents, osteogenic disorder Shionogi (ODS) rats do not synthesize ascorbate, and thus may serve as a useful model for studying the role of ascorbate in human disease. Conflicting evidence exists regarding ascorbate's protective versus detrimental effects in animal models and clinical studies. Ascorbate-deficient ODS rats are resistant to neurodegeneration after experimental cardiac arrest.

The study analyses the significance of the plasmatic values of the OPN dosed to 91 people suffering from diastolic cardiac dysfunction with preserved ejection fraction, thus revealing significant growths of its level compared to the normal value. Despite being a clinical research, its conclusions are a breakthrough, differing from the results of other studies published in the relevant medical literature. We can make this assertion because this study analyses the clinical information given by the circulating values of the OPN, based on experimental models (animals), or on patients with congestive heart failure, which can be identified with the existence of a low systolic flow. The results of our study allow us to assert that the plasmatic values of this glycoprotein lead to its acceptance in the medical practice as a new biomarker that provides indicators regarding the stratification of risk with the patients suffering from heart failure of the diastolic dysfunction type, but whose systolic flow is preserved.

The presence of hyaline cartilage has been previously documented in heart tissue of different vertebrates, ranging from birds to superior mammals. However, there is scarce published data regarding the appearance of focal deposits of hyaline-like cartilage within the hearts of laboratory rats. Few mechanisms that could trigger the appearance of this type of cartilage in heart were hypothesized (e.g., mechanical stress, ageing). Using different microscopy techniques this report confirms the presence of hyaline cartilage and bone in Wistar rats, which underwent left anterior coronary artery ligation for experimental myocardial infarction. The presented (ultra)structural evidence of focal chondroid metaplasia in the papillary muscles and close to the insertion point in the ventricular mass of the infarcted heart suggests a structural adaptation of cardiac myocardium to the newly acquired kinetics of left ventricular wall, after experimental myocardial infarction. Specific cartilaginous matrix proteins are known to mediate cardiac extracellular matrix remodeling, and this study provides evidence of a complete transition to a cartilaginous pattern in postinfarcted heart, which may nonetheless constitute a supplemental risk factor of a further heart failure condition. Moreover, for heart focal chondrogenesis, we also presume the involvement of the cellular and molecular inflammatory milieu that dominates the first 24 hr border zone landscape of the experimental myocardial infarction lesion. Anat Rec, 302:947-953, 2019. © 2018 Wiley Periodicals, Inc.

Background and aims. The nutritional disorders are modifiable predisposing factors of the current leading causes of morbidity and premature mortality, such as cardiovascular diseases, diabetes and cancers. An early recognition of appropriate interventions could decrease the burden of medical costs and increase the healthy life expectancy. The aims of our study were the description of nutritional status, its associated factors, and the detection of eating disorders among Romanian medical students of the “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca.Methods. A cross-sectional study was conducted during the 2015-2016 academic year, including medical students from all study years, by an online questionnaire. The statistics, both descriptive and inferential, were calculated using EpiInfo.Results. A total of 222 students from the University Romanian section were included, with a sex-ratio (men:women) of 0.22. The average body mass index of the medical students included was 21.3±3.3 kg/m2, for females it was 20.7±3 kg/m2 and for males 23.9±3.1 kg/m2. For the nutritional disorders such as overweight, the prevalence among males (30%) had a net predominance (p

Background: Cerebral edema after cardiac arrest (CA) is associated with increased mortality and unfavorable outcome in children and adults. Aquaporin-4 mediates cerebral water movement and its absence in models of ischemia improves outcome. We investigated early and selective pharmacologic inhibition of aquaporin-4 in a clinically relevant asphyxial CA model in immature rats in a threshold CA insult that produces primarily cytotoxic edema in the absence of blood brain barrier permeability. Methods: Postnatal day 16–18 Sprague-Dawley rats were studied in our established 9-min asphyxial CA model. Rats were randomized to aquaporin-4 inhibitor (AER-271) vs vehicle treatment, initiated at return of spontaneous circulation. Cerebral edema (% brain water) was the primary outcome with secondary assessments of the neurologic deficit score (NDS), hippocampal neuronal death, and neuroinflammation. Results: Treatment with AER-271 ameliorated early cerebral edema measured at 3 h after CA vs. vehicle treated rats. This treatment also attenuated early NDS. In contrast to rats treated with vehicle after CA, rats treated with AER-271 did not develop significant neuronal death or neuroinflammation as compared to sham. Conclusion: Early post-resuscitation aquaporin-4 inhibition blocks the development of early cerebral edema, reduces early neurologic deficit, and blunts neuronal death and neuroinflammation post-CA.

Cachexia is an extremely serious syndrome which occurs in most patients with different cancers, and it is characterized by systemic inflammation, a negative protein and energy balance, and involuntary loss of body mass. This syndrome has a dramatic impact on the patient’s quality of life, and it is also associated with a low response to chemotherapy leading to a decrease in survival. Despite this, cachexia is still underestimated and often untreated. New research is needed in this area to understand this complex phenomenon and ultimately find treatment methods and therapeutic targets. The skeletal muscle can act as an endocrine organ. Signaling between muscles and other systems is done through myokines, cytokines, and proteins produced and released by myocytes. In this review, we would like to draw attention to some of the most important myokines that could have potential as biomarkers and therapeutic targets: myostatin, irisin, myonectin, decorin, fibroblast growth factor 21, interleukin-6, interleukin-8, and interleukin-15.

Introduction In the context of the global tuberculosis (TB) burden, children represent 10% of all cases, with high incidence rates still reported by many regions worldwide. The study aim was to determine whether there is a correlation between TB clinical diagnosis and low birth weight in children at various ages. Material and methods The study was conducted between 2010 and 2014, on a group of 1783 pediatric patients and a subgroup of 137 pediatric patients with low birth weight (LBW). Data were collected from patients’ records and hospital statistical reports then processed using MS Excel 2010 and SPSS v.22. Results The subgroup of LBW patients accounted for 7.68% of all recorded cases. Girls were predominant (total M: F = 0.95; LBW group M: F = 0.91, p < 0.05), most from an urban area (total U: R = 1.29; LBW subgroup U: R = 1.36, p < 0.05). 22.59% of LBW subgroup children were infants aged of 0–12 months. The youngest age at TB diagnosis was 1 month and the lowest weight was 700 g. ANOVA regression for LBW and age at TB diagnosis, showed a multiple R value of 0.0256, p = 0.7659 (F = 0.7659, 95% CI). Conclusions The correlation between clinical diagnosis of tuberculosis in children at various ages and their low birth weight was positive but was not statistically significant. However, this research hypothesis should be tested in further studies on larger population groups, due to the current public health context of “End TB”, promoted worldwide.

The rapid development in the last 10-15 years of microarray technologies, such as oligonucleotide array Comparative Genomic Hybridization (CGH) and Single Nucleotide Polymorphisms (SNP) genotyping array, has improved the identification of fine chromosomal structural variants, ranging in length from kilobases (kb) to megabases (Mb), as an important cause of genetic differences among healthy individuals and also as disease-susceptibility and/or disease-causing factors. Structural genomic variations due to unbalanced chromosomal rearrangements are known as Copy-Number Variants (CNVs) and these include variably sized deletions, duplications, triplications and translocations. CNVs can significantly contribute to human diseases and rearrangements in several dosage-sensitive genes have been identified as an important causative mechanism in the molecular aetiology of Charcot-Marie-Tooth (CMT) disease and of several CMT-related disorders, a group of inherited neuropathies with a broad range of clinical phenotypes, inheritance patterns and causative genes. Duplications or deletions of the dosage-sensitive gene PMP22 mapped to chromosome 17p12 represent the most frequent causes of CMT type 1A and Hereditary Neuropathy with liability to Pressure Palsies (HNPP), respectively. Additionally, CNVs have been identified in patients with other CMT types (e.g., CMT1X, CMT1B, CMT4D) and different hereditary poly- (e.g., giant axonal neuropathy) and focal- (e.g., hereditary neuralgic amyotrophy) neuropathies, supporting the notion of hereditary peripheral nerve diseases as possible genomic disorders and making crucial the identification of fine chromosomal rearrangements in the molecular assessment of such patients. Notably, the application of advanced computational tools in the analysis of Next-Generation Sequencing (NGS) data has emerged in recent years as a powerful technique for identifying a genome-wide scale complex structural variants (e.g., as the ones resulted from balanced rearrangements) and also smaller pathogenic (intragenic) CNVs that often remain beyond the detection limit of most conventional genomic microarray analyses; in the context of inherited neuropathies where more than 70 disease-causing genes have been identified to date, NGS and particularly Whole-Genome Sequencing (WGS) hold the potential to reduce the number of genomic assays required per patient to reach a diagnosis, analyzing with a single test all the Single Nucleotide Variants (SNVs) and CNVs in the genes possibly implicated in this heterogeneous group of disorders.

Irritable bowel syndrome (IBS) is one of the most common diseases of gastro-enterology, associating abdominal pain, transit disorders and changes in the consistency of the stools. Material and method. The study included 200 patients suffering from IBS, selected from a total of 2,300 patients of a family medicine practice in urban area. For diagnosis and classification, Rome III criteria and Bristol scale were used. For a subgroup was applied a questionnaire for the evaluation of quality of life, QoL. Treatment was initiated on three levels. Results. The incidence of the disease during the 3 years of study (2013-2016) was 2.9%. The type of IBS most often encountered was the one with dominance of constipation (IBS-C 32.5%), followed by the alternating form (IBS-A 26%), mixed (IBS-M-24%) and the dominance of diarrhea (IBS-D 18.5%). Form with more severe impact on the quality of life is IBS-C – 52.24 score, and most easily tolerated IBS-A – 69 score. Treatment was initiated at the on level I at 33% of the patients at the on level II to 36 %, and on level III to 31% of the patients. Maximum efficiency of treatment scores were obtained from patients on treatment level III. Complete remission of symptoms is obtained only in 9.5% of total patients. Conclusions. SII is a common condition in family medicine practice, due to changes in the modern diet. The diagnosis can be facilitated by the application of questionnaires, and treatment is based on changes in lifestyle and on pharmacological agents.

An 84-year-old lady with slowly progressive limb and axial muscle weakness with onset in her teens was referred for genetic investigations. Targeted next generation sequencing (NGS) revealed a homozygous mutation GYG1 in exon5:c.487delG:p.D163fs, confirming the diagnosis of Polyglucosan Body Myopathy 2 (PGBM2). Retrospective review of muscle pathology revealed a florid vacuolar myopathy with histochemical and ultrastructural features consistent with a polyglucosan storage myopathy. No cardiac symptoms were reported. Our case is consistent with the core phenotype of GYG1-related PGBM2 apart from an early onset of weakness without cardiac symptoms. The presence of α-amylase resistant PAS-positive material in skeletal muscle biopsy of patients with slowly progressive limb girdle muscle weakness should prompt the search for GYG1 mutations. This case highlights the combined role of muscle pathology and NGS in the molecular resolution of patients with undiagnosed neuromuscular conditions.

The biochemical analysis in acute peritonitis follows the assessment of the objective severity degree sustained by endotoxicosis, homeostasis disorders and acid-base balance. We had monitored the biochemical peculiarities and correlations in acute peritonitis in children during a retrospective study statistically analyzed on a group of 127 patients in the period 2009-2014. The obtained results were consistent with the form and late phase of peritonitis.

AIM: To describe the CT findings in eight patients with left-sided inferior vena cava (IVC) in whom the left renal artery presented a precaval course (pLRA). MATERIALS AND METHODS: We searched the teaching files of six radiology departments for patients with pLRAs. Eight patients were found, and the available imaging studies and clinical histories were reviewed. Associated vascular and renal anomalies were noted. RESULTS: No patient had been examined for problems related to the vascular anomaly found. Four had a double IVC and two a solitary left IVC; in all, the left-sided IVCs had hemiazygos continuation. One patient had situs viscerum inversus. In one case, there was a left kidney in left iliac fossa. CONCLUSION: Although rare and probably overlooked, a pLRAs can be encountered in patients with situs viscerum inversus or presenting a left-sided IVC with hemiazygos continuation. These vessels can cause technical problems during surgery at the left renal hilum and should be specifically searched for in patients with vascular anomalies.

The current study was conducted on a sample of 91 patients diagnosed with diastolic dysfunction (DD) with preserved systolic function caused by a painful chronic ischaemic cardiopathy – angina pectoris stable at the effort. The diagnosis was established following anamnesis, electrocardiogram, and echocardiography. Myeloperoxidase (MPO) serum levels were assessed in all patients and then these values were correlated with some of the echocardiography parameters that proved the mentioned diagnosis. In conclusion, the execution of this investigation triad (electrocardiogram, echocardiography, and MPO) allows:Stratifying the patients depending on the disease risk by early detecting of any possible DD with preserved systolic function.The use of the MPO increased circulating levels as a biomarker for diagnosis and risk due to the statistically significant correlation between those and the results of the other two aforementioned paraclinical investigation.

BACKGROUND: Apolipoprotein (apo) E isoforms have strong correlations with metabolic and cardiovascular diseases. However, it is not clear if apoE has a role in development of non-ischemic cardiomyopathy. Our study aims to analyze the involvement of apoE in non-ischemic cardiomyopathy. METHODS AND RESULTS: Serial echo-cardiographic measurements were performed in old wildtype and apoE deficient (apoE-/-) mice. Morphological and functional cardiac parameters were in normal range in both groups at the age of 12 month. At the age of 18 months, both groups had shown ventricular dilation and increased heart rates. However, the apoE-/- mice presented signs of diastolic dysfunction by hypertrophic changes in left ventricle, due probably to arterial hypertension. The right ventricle was not affected by age or genotype. CONCLUSION: Even in the absence of high fat diet, apoE deficiency in mice induces mild changes in the cardiac function of the left ventricle during aging, by developing diastolic dysfunction, which leads to heart failure with preserved ejection fraction. However, further studies are necessary to conclude over the role of apoE in cardiac physiology and its involvement in development of heart failure.

Some diagnosed cases of chronic lymphocytic leukemia (CLL) with possible mutations of the p-53 gene in the human B lymphocyte genome were investigated in this study. Method: Using the ELISA technique, the frequency of p-53 protein expression in 20 patients diagnosed with CLL were analyzed, including the relationship of this protein to the disease status, in stages II-III/IV. Results: The frequency of increased expression of the isoform p-53 protein in type B-CLL was found to be 15% percent. The mean concentrations of the p-53 proteins in 17 cases out of the 20, was found to be 16.76 μg / dl, with CV = 0.5% and the probability index p = 0.034. The percentage of the p-53 positive isoform proteins increased above the normal values with disease progression: 15% ± 2 in stages 1-2, compared to 100% in stages 3-4. Conclusion: The ELISA method has proved a useful prognostic tool of CLL because it was able to identify the patients with p-53 isoform proteins and can be considered a screening method for the applying of personalized treatment in cases diagnosticated with resistance CLL to the specific treatment applied of the first line.

Introduction: The no-reflow phenomenon has been described in 20–40% of patients with acute ST-segment elevation myocardial infarction, despite restoration of TIMI 3 myocardial flow. It is associated with adverse left ventricular remodeling and an unfavorable long-term prognosis. Case presentation: A 45-year-old gentleman was admitted one hour after the onset of an acute anterior ST-segment elevation myocardial infarction. Emergency coronary angiography was performed, and a severe stenosis of the left anterior descending artery was identified. The lesion was crossed with a pressure-wire, and a drug-eluting stent was directly implanted, with restoration of TIMI 3 epicardial flow. Predilatation was not performed. Coronary wedge pressure was measured during stent deployment. The mean pressure value was 27 mmHg. However, a tall systolic wave was identified in the morphology of the pressure curve. Myocardial blush grade and ST-segment resolution were concordant with early micro-vascular obstruction. Similarly, at transthoracic Doppler echocardiography, the flow in the left anterior descending artery revealed the same pattern. An apical left ventricular aneurysm was echocardiographically detected. The MRI described extensive interstitial edema that affected the anterior, septal, and apical regions of the left ventricle. Areas of intramyocardial hemorrhage and microvascular obstruction were also detected. According to recent literature data, the morphology of the coronary wedge pressure wave suggested at least the presence of pre-procedural distal embolization. Conclusions: In the setting of acute myocardial infarction, the integrity of coronary microvasculature is an important issue. The distal coronary pressure wave pattern before primary percutaneous revascularization can be a deciding factor for an early therapeutic approach.

Decreased cerebral blood flow (CBF) after cardiac arrest (CA) contributes to secondary ischemic injury in infants and children. We previously reported cortical hypoperfusion with tissue hypoxia early in a pediatric rat model of asphyxial CA. In order to identify specific alterations as potential therapeutic targets to improve cortical hypoperfusion post-CA, we characterize the CBF alterations at the cortical microvascular level in vivo using multiphoton microscopy. We hypothesize that microvascular constriction and disturbances of capillary red blood cell (RBC) flow contribute to cortical hypoperfusion post-CA. After resuscitation from 9 min asphyxial CA, transient dilation of capillaries and venules at 5 min was followed by pial arteriolar constriction at 30 and 60 min (19.6 ± 1.3, 19.3 ± 1.2 µm at 30, 60 min vs. 22.0 ± 1.2 µm at baseline, p