Rubinstein- Taybi Syndrome is a congenital malformation involving multiple organs of the body. Several etiologies have been proposed for this multisystem disorder like mutations in the CREBBP gene, EP300 gene, deletion of genetic material from the short arm of chromosome 16. It is characterized by unique features like mental retardation, craniofacial abnormalities like beaked nose, microcephaly, hypertelorism, broad nasal bridge etc. Further, involvement of renal, cardiac, auditory, respiratory, immunologic, endocrine, bone involvement and tumors have been illustrated in the literature. But literature search on oral manifestations are few. So this manuscript sketches the etiopathogenesis, clinical features, management of this disorder with the special focus on orodental manifestation reported in the literature review.

Összefoglaló. Az áramütés súlyos esetben hirtelen halállal vagy több szervrendszer kiterjedt károsodásával járhat. A magasfeszültségű áramütés (>1000 V) általában súlyosabb égési sérülésekkel és magasabb kórházi mortalitással jár, mint az alacsonyfeszültségű, de a sérülések súlyosságát a feszültségen kívül a test ellenállása, az áramexpozíció ideje, az áram fajtája, erőssége és útja is befolyásolja. A kritikus állapotú vagy súlyos égési sérüléseket szenvedett betegek sürgősségi ellátása komplex és multidiszciplináris szemléletet igényel. A súlyos szövődményekkel járó áramütéses balesetek ugyanakkor a fejlett országokban ritkák: az áramütés következtében sürgősségi osztályon jelentkező betegek döntő többsége panaszmentesen vagy minor panaszokkal kerül felvételre. A ritmuszavarok az áramütéses balesetek messze leggyakoribb cardialis szövődményei, és rendszerint közvetlenül az áramütés után jelentkeznek. Az elektromos áram kamrafibrillációt vagy asystoliát is kiválthat, mely a baleset helyszínén ellátás nélkül halálhoz vezethet. Bár sok helyen elterjedt gyakorlat az áramütést szenvedett betegek rutinszerű monitorozása, a klinikailag releváns arrhythmiák összességében ritkák, és a felvételi EKG alapján diagnosztizálhatók, ezért EKG-monitorozás csak meghatározott rizikófaktorok esetén szükséges. Jelen munkánk célja összefoglalni az áramütést szenvedett betegek optimális sürgősségi ellátásával kapcsolatos legfontosabb szempontokat, különös tekintettel az áramütéses balesetet követően fellépő cardialis szövődményekre és arrhythmiákra, valamint az EKG-monitorozás indikációira. Orv Hetil. 2020; 161(47): 1979–1988. Summary. Electrical accidents (EA) may cause sudden death or severe injuries of multiple organs. High voltage injuries (>1000 V) are associated with more severe burn injuries and higher in-hospital mortality than low voltage injuries, however, the severity of complications depends on several other factors like resistance of the body, duration of current exposition, intensity, type and pathway of current. Critically ill patients with severe burns and/or other injuries require a multidisciplinary intensive treatment. However, such complications are rare in the developed countries: most patients present in the emergency department with no or minor symptoms and do not require hospital admission. Arrhythmias are the most frequent cardiac complications after EA. Electrical current may cause ventricular fibrillation or asystolia which can lead to death on the scene. In patients presenting in the emergency department, clinically relevant arrhythmias are rare and can be diagnosed by a 12-lead ECG, therefore a systematic monitoring may not be indicated. Aim of our work is to review the most frequent complications after an electrical accident with special focus on cardiac complications and arrhythmias. The other aim of the manuscript is to summarize the most important aspects of emergency treatment and indication for ECG monitoring after electrical accident. Orv Hetil. 2020; 161(47): 1979–1988.

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A Case of Multiple Spontaneous Keloid Scars

Case Reports in Dermatology ◽

10.1159/000437249 ◽

2015 ◽

Vol 7 (2) ◽

pp. 156-160 ◽

Cited By ~ 2

Author(s):

Abdulhadi Jfri ◽

Nawal Rajeh ◽

Eman Karkashan

Keyword(s):

Cleft Lip ◽

The Body ◽

Single Female ◽

Nasal Bridge ◽

Cutaneous Injury ◽

High Arched Palate ◽

Keloid Scars ◽

Previous Trauma ◽

Broad Nasal Bridge ◽

Different Parts

Keloid scars result from an abnormal healing response to cutaneous injury or inflammation that extends beyond the borders of the original wound. Spontaneous keloid scars forming in the absence of any previous trauma or surgical procedure are rare. Certain syndromes have been associated with this phenomenon, and few reports have discussed the evidence of single spontaneous keloid scar, which raises the question whether they are really spontaneous. Here, we present a 27-year-old mentally retarded single female with orbital hypertelorism, broad nasal bridge, repaired cleft lip and high-arched palate who presented with progressive multiple spontaneous keloid scars in different parts of her body which were confirmed histologically by the presence of typical keloidal collagen. This report supports the fact that keloid scars can appear spontaneously and are possibly linked to a genetic factor. Furthermore, it describes a new presentation of spontaneous keloid scars in the form of multiple large lesions in different sites of the body.

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Role of Mitochondria in Viral Infections

Life ◽

10.3390/life11030232 ◽

2021 ◽

Vol 11 (3) ◽

pp. 232

Author(s):

Srikanth Elesela ◽

Nicholas W. Lukacs

Keyword(s):

Viral Infections ◽

Mitochondrial Dynamics ◽

The Body ◽

Viral Diseases ◽

Multiple Organs ◽

Innate Immune Signaling ◽

Mitochondrial Functions ◽

Host Virus Interactions ◽

Virus Interactions

Viral diseases account for an increasing proportion of deaths worldwide. Viruses maneuver host cell machinery in an attempt to subvert the intracellular environment favorable for their replication. The mitochondrial network is highly susceptible to physiological and environmental insults, including viral infections. Viruses affect mitochondrial functions and impact mitochondrial metabolism, and innate immune signaling. Resurgence of host-virus interactions in recent literature emphasizes the key role of mitochondria and host metabolism on viral life processes. Mitochondrial dysfunction leads to damage of mitochondria that generate toxic compounds, importantly mitochondrial DNA, inducing systemic toxicity, leading to damage of multiple organs in the body. Mitochondrial dynamics and mitophagy are essential for the maintenance of mitochondrial quality control and homeostasis. Therefore, metabolic antagonists may be essential to gain a better understanding of viral diseases and develop effective antiviral therapeutics. This review briefly discusses how viruses exploit mitochondrial dynamics for virus proliferation and induce associated diseases.

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Erythrocytes: Central Actors in Multiple Scenes of Atherosclerosis

International Journal of Molecular Sciences ◽

10.3390/ijms22115843 ◽

2021 ◽

Vol 22 (11) ◽

pp. 5843

Author(s):

Chloé Turpin ◽

Aurélie Catan ◽

Olivier Meilhac ◽

Emmanuel Bourdon ◽

François Canonne-Hergaux ◽

...

Keyword(s):

Iron Homeostasis ◽

The Body ◽

Diabetic Patients ◽

Special Focus ◽

Plaque Progression ◽

Cell Dysfunction ◽

Circulating Cells ◽

The Impact ◽

Progression Of Atherosclerosis

The development and progression of atherosclerosis (ATH) involves lipid accumulation, oxidative stress and both vascular and blood cell dysfunction. Erythrocytes, the main circulating cells in the body, exert determinant roles in the gas transport between tissues. Erythrocytes have long been considered as simple bystanders in cardiovascular diseases, including ATH. This review highlights recent knowledge concerning the role of erythrocytes being more than just passive gas carriers, as potent contributors to atherosclerotic plaque progression. Erythrocyte physiology and ATH pathology is first described. Then, a specific chapter delineates the numerous links between erythrocytes and atherogenesis. In particular, we discuss the impact of extravasated erythrocytes in plaque iron homeostasis with potential pathological consequences. Hyperglycaemia is recognised as a significant aggravating contributor to the development of ATH. Then, a special focus is made on glycoxidative modifications of erythrocytes and their role in ATH. This chapter includes recent data proposing glycoxidised erythrocytes as putative contributors to enhanced atherothrombosis in diabetic patients.

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Anaesthetic Management of a Super Morbid Obese Patient

Journal of Evidence Based Medicine and Healthcare ◽

10.18410/jebmh/2021/554 ◽

2021 ◽

Vol 8 (32) ◽

pp. 3039-3042

Author(s):

Lekshmi Raj Jalaja ◽

Stuti Lohia ◽

Priyadarsini Bentur ◽

Ravi Ramgiri

Keyword(s):

Body Mass Index ◽

Body Mass ◽

Recovery Period ◽

Well Being ◽

Anaesthetic Management ◽

The Body ◽

World Health ◽

Morbidly Obese ◽

Multisystem Disorder ◽

Increased Risk

‘Obesity’ is defined as a condition with excess body fat to the extent that health and well-being are adversely affected and uses a class system based on the body mass index (BMI), by the world health organization (WHO). Anaesthetic management of morbidly obese is challenging, as there is an increased risk of perioperative respiratory insufficiency and supplemental oxygen must be given throughout recovery period. The incidence of morbid obesity continues to grow and anaesthesiologists are exposed to obese patients presenting for various procedures. The prevalence of obesity is on the upward trend worldwide. Obesity is a multisystem disorder, involving the respiratory and cardiovascular systems, and therefore, undergoing a surgical procedure under anaesthesia may entail a considerable risk. Thus, a multidisciplinary approach is required in treating such patients. Quantification of the extent of obesity is done using the body mass index. BMI is defined as the relationship between weight and height (weight [kg] / height2 [m2 ]).

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Overt Lower Gastrointestinal Bleeding and Pseudotumor: A Rare Presentation of Cytomegalovirus Infection

Case Reports in Medicine ◽

10.1155/2017/9732967 ◽

2017 ◽

Vol 2017 ◽

pp. 1-4 ◽

Cited By ~ 3

Author(s):

Akanksha Agrawal ◽

Deepanshu Jain ◽

Sameer Siddique

Keyword(s):

Highly Active Antiretroviral Therapy ◽

The Body ◽

Cmv Infection ◽

Rare Presentation ◽

Multiple Organs ◽

Highly Active ◽

History Of ◽

Acquired Immunodeficiency ◽

Immunodeficiency Syndrome

Cytomegalovirus (CMV) is a ubiquitous organism which can infect multiple organs of the body. In an immunocompromised patient, it can have a myriad of gastrointestinal manifestations. We report a case of recurrent hematochezia and concomitant pseudotumor in an AIDS (acquired immunodeficiency syndrome) patient attributable to CMV infection. A 62-year-old man with a history of AIDS, noncompliant with highly active antiretroviral therapy (HAART), presented with bright red blood per rectum. Index colonoscopy showed presence of multiple ulcers, colonic stenosis, and mass-like appearing lesion. Biopsy confirmed CMV infection and ruled out malignancy. Cessation of dual antiplatelet therapy and compliance with HAART lead to clinical cessation of bleeding and endoscopic healing of ulcers with complete resolution of colon mass on follow-up colonoscopy.

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Cutaneous Leishmaniasis in a Bangladeshi Adult: A Case Report

Bangladesh Journal of Medicine ◽

10.3329/bjmed.v25i2.25100 ◽

2015 ◽

Vol 25 (2) ◽

pp. 78-80

Author(s):

Abdur Rahim ◽

Md Moniruzzan ◽

Rashedul Hassan ◽

Monira Sarmin ◽

Md Abdullah Yusuf ◽

...

Keyword(s):

Cutaneous Leishmaniasis ◽

Plasma Cells ◽

Case Reports ◽

Ring Finger ◽

Clinical History ◽

The Body ◽

Nasal Bridge ◽

Cutaneous Tuberculosis ◽

Exposed Part ◽

Ulcerative Lesions

Cutaneous leishmaniasis is rare in Bangladesh although very few case reports are seen since last few years. But Visceral Leishmaniasis (kala azar) and PKDL are common in this region. In country like ours where tuberculosis and leprosy are more prevalent Cutaneous Leishmaniasis is very likely to be mistreated as Cutaneous tuberculosis especially lupus vulgaris or leprosy. Cases of Cutaneous Leishmaniasis (CL) are usually imported to Bangladesh from other endemic countries. A patient from an endemic area of Cutaneous Leishmaniasis, a non-healing nodulo-ulcerative lesion on exposed part of the body, dermal infiltration with lymphocytes, histiocytes and plasma cells and demonstration of intracellular parasites in lesional skin establish the diagnosis of Cutaneous Leishmaniasis. We present a case of Cutaneous Leishmaniasis in a Bangladeshi adult working in Saudi Arabia for more than 15 years. He presented with multiple ulcerative lesions on nasal bridge, right ear lobule and dorsum of right ring finger. The patients clinical history, morphology of the lesions and laboratory analysis were consistent with Cutaneous Leishmaniasis, a rare entity for Bangladesh.Bangladesh J Medicine Jul 2014; 25 (2) : 78-80

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Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice

10.1101/2020.09.15.297259 ◽

2020 ◽

Author(s):

F.W. Riemslagh ◽

E.C. van der Toorn ◽

R.F.M Verhagen ◽

A. Maas ◽

L.W.J. Bosman ◽

...

Keyword(s):

Mouse Model ◽

Muscular Atrophy ◽

Time Frame ◽

Repeat Expansion ◽

The Body ◽

Specific Expression ◽

Multiple Organs ◽

Als Patients ◽

Flanking Regions ◽

Ran Translation

AbstractThe hexanucleotide G4C2 repeat expansion in the first intron of the C9ORF72 gene explains the majority of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) cases. Numerous studies have indicated the toxicity of dipeptide repeats (DPRs) which are produced via repeat-associated non-AUG (RAN) translation from the repeat expansion and accumulate in the brain of C9FTD/ALS patients. Mouse models expressing the human C9ORF72 repeat and/or DPRs show variable pathological, functional and behavioral characteristics of FTD and ALS. Here, we report a new Tet-on inducible mouse model that expresses 36x pure G4C2 repeats with 100bp upstream and downstream human flanking regions. Brain specific expression causes the formation of sporadic sense DPRs aggregates upon 6 months dox induction but no apparent neurodegeneration. Expression in the rest of the body evokes abundant sense DPRs in multiple organs, leading to weight loss, neuromuscular junction disruption, myopathy and a locomotor phenotype within the time frame of four weeks. We did not observe any RNA foci or pTDP-43 pathology. Accumulation of DPRs and the myopathy phenotype could be prevented when 36x G4C2 repeat expression was stopped after 1 week. After 2 weeks of expression, the phenotype could not be reversed, even though DPR levels were reduced. In conclusion, expression of 36x pure G4C2 repeats including 100bp human flanking regions is sufficient for RAN translation of sense DPRs and evokes a functional locomotor phenotype. Our inducible mouse model highlights the importance of early diagnosis and treatment for C9FTD/ALS patients.Summary statementOnly 36 C9ORF72 repeats are sufficient for RAN translation in a new mouse model for ALS and FTD. Reducing toxic dipeptides can prevent but not reverse the phenotype.

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Pharmacological myeloperoxidase (MPO) inhibition in an obese/hypertensive mouse model attenuates obesity and liver damage, but not cardiac remodeling

Scientific Reports ◽

10.1038/s41598-019-55263-y ◽

2019 ◽

Vol 9 (1) ◽

Cited By ~ 8

Author(s):

Arnold Piek ◽

Debby P. Y. Koonen ◽

Elisabeth-Maria Schouten ◽

Eva L. Lindtstedt ◽

Erik Michaëlsson ◽

...

Keyword(s):

Adipose Tissue ◽

Mouse Model ◽

The Body ◽

Low Grade ◽

Protective Effects ◽

Positive Effects ◽

Low Fat Diet ◽

Multiple Organs ◽

Cardiac Phenotype ◽

Obesity Hypertension

AbstractLifestyle factors are important drivers of chronic diseases, including cardiovascular syndromes, with low grade inflammation as a central player. Attenuating myeloperoxidase (MPO) activity, an inflammatory enzyme associated with obesity, hypertension and heart failure, could have protective effects on multiple organs. Herein, the effects of the novel oral available MPO inhibitor AZM198 were studied in an obese/hypertensive mouse model which displays a cardiac phenotype. Eight week old male C57BL6/J mice received 16 weeks of high fat diet (HFD) combined with angiotensin II (AngII) infusion during the last 4 weeks, with low fat diet and saline infusion as control. Treated animals showed therapeutic AZM198 levels (2.1 µM), corresponding to 95% MPO inhibition. AZM198 reduced elevated circulating MPO levels in HFD/AngII mice to normal values. Independent of food intake, bodyweight increase and fat accumulation were attenuated by AZM198, alongside with reduced visceral adipose tissue (VAT) inflammation and attenuated severity of nonalcoholic steatohepatitis. The HFD/AngII perturbation caused impaired cardiac relaxation and contraction, and increased cardiac hypertrophy and fibrosis. AZM198 treatment did, however, not improve these cardiac parameters. Thus, AZM198 had positive effects on the main lipid controlling tissues in the body, namely adipose tissue and liver. This did, however, not directly result in improved cardiac function.

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Dynamics of factor VIII interactions determine its immunologic fate in hemophilia A

Blood ◽

10.1182/blood-2008-02-124941 ◽

2008 ◽

Vol 112 (2) ◽

pp. 240-249 ◽

Cited By ~ 59

Author(s):

Sébastien Lacroix-Desmazes ◽

Ana-Maria Navarrete ◽

Sébastien André ◽

Jagadeesh Bayry ◽

Srinivas V. Kaveri ◽

...

Keyword(s):

Immune System ◽

Factor Viii ◽

Hemophilia A ◽

Adaptive Immune Response ◽

Dynamic Network ◽

The Body ◽

Coagulation Cascade ◽

Special Focus ◽

Local Concentration ◽

Inflammatory Microenvironment

Abstract Procoagulant factor VIII (FVIII) is either produced endogenously under physiologic conditions, or administered exogenously as a therapeutic hemostatic drug in patients with hemophilia A. In the circulation, FVIII interacts with a multitude of glycoproteins, and may be used for coagulation at the sites of bleeding, eliminated by scavenger cells, or processed by the immune system, either as a self-constituent or as a foreign antigen. The fate of FVIII is dictated by the immune status of the individual, the location of FVIII in the body at a given time point, and the inflammatory microenvironment. It also depends on the local concentration of FVIII and of each interacting partner, and on the affinity of the respective interactions. FVIII, by virtue of its promiscuity, thus constitutes the core of a dynamic network that links the coagulation cascade, cells of the immune system, and, presumably, the inflammatory compartment. We describe the different interactions that FVIII is prone to establish during its life cycle, with a special focus on players of the innate and adaptive immune response. Lessons can be learned from understanding the dynamics of FVIII interactions—lessons that should pave the way to the conception of long-lasting hemostatic drugs devoid of iatrogenic immunogenicity.

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