scholarly journals Ichthyoses—A Clinical and Pathological Spectrum from Heterogeneous Cornification Disorders to Inflammation

2021 ◽  
Vol 8 (2) ◽  
pp. 107-123
Author(s):  
Dieter Metze ◽  
Heiko Traupe ◽  
Kira Süßmuth
Keyword(s):  
Stratum Granulosum ◽  
Internal Organs ◽  
Histopathologic Diagnosis ◽  
Epidermolytic Ichthyosis ◽  
Life Threatening ◽  
Keratinization Disorders ◽  
Gene Defects ◽  
Immunohistochemical Methods

Ichthyoses are inborn keratinization disorders affecting the skin only (non-syndromic) or are associated with diseases of internal organs (syndromic). In newborns, they can be life-threatening. The identification of the gene defects resulted in reclassification and a better understanding of the pathophysiology. Histopathologic patterns include orthohyperkeratosis with a reduced or well-developed stratum granulosum, hyperkeratosis with ortho- and parakeratosis with preserved or prominent stratum granulosum, and epidermolytic ichthyosis. Another pattern features “perinuclear vacuoles and binucleated keratinocytes”, which is associated with keratin mutations. Some ichthyoses are histologically defined by psoriasis-like features, and distinct subtypes show follicular hyperkeratosis. In addition to histological and immunohistochemical methods, these patterns allow a better histopathologic diagnosis.

Enterovirus Diseases and Vaccines

2021 ◽  
Author(s):  
Heinz-Josef Schmitt
Keyword(s):  
Disease Outbreaks ◽  
Foot And Mouth Disease ◽  
Asia Pacific ◽  
Asia Pacific Region ◽  
Internal Organs ◽  
Enterovirus A71 ◽  
Life Threatening ◽  
Development Pipeline ◽  
The Brain ◽  
Genus Enterovirus

Enterovirus A71 (EV A71) (genus enterovirus, family pircornaviridae) causes benign vesicular lesions on skin (hand, foot and mouth disease, HFMD) and mucous membranes of the mouth (herpangina), and also severe to life-threatening infections of the brain, the heart, and other internal organs. Disease outbreaks in the Asia-Pacific region regularly involve thousands of children <5 years resulting in many deaths. Such outbreaks are caused by specific EV genotypes that vary by time and place. While there are various promising and innovative options for treatment in development, none are licensed to date. Immunoglobulins may be beneficial through virus neutralization and modulation of the inflammatory response by the host. In China, 3 different highly efficacious and safe vaccines are commercially available; however, none are licensed outside the country. Roughly half a dozen vaccines are in the development pipeline, with some using innovative approaches and trying to broaden strain coverage.

scholarly journals Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests

2014 ◽  
Vol 100 (1) ◽  
pp. 57-61 ◽  
Author(s):  
Glenda Sobey
Keyword(s):  
Genetic Basis ◽  
Correct Diagnosis ◽  
Clinical Signs ◽  
Accurate Diagnosis ◽  
Connective Tissue Disorders ◽  
Internal Organs ◽  
Ehlers Danlos Syndrome ◽  
Starting Point ◽  
Life Threatening ◽  
Danlos Syndrome

The term Ehlers–Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Each subtype is a separate and different condition. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. An awareness of the different conditions within this group is the starting point towards accurate diagnosis. Accurate elicitation of history and clinical signs is vital in selecting the correct confirmatory investigation. Skin biopsy with electron microscopy can be helpful in the decision process of whether and when to perform genetic testing. Correct diagnosis within the EDSs allows targeted management, family screening and prenatal diagnosis.

scholarly journals Angiographic Embolization of a Postpartum Vulvovaginal Hematoma in a Patient with Situs Inversus Totalis: An Effective Second-Line Treatment

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Elias M. Dahdouh ◽  
Jacques Balayla ◽  
Johanne Dubé
Keyword(s):  
Situs Inversus ◽  
Primary Treatment ◽  
Situs Inversus Totalis ◽  
Invasive Technique ◽  
Angiographic Embolization ◽  
Internal Organs ◽  
Artery Ligation ◽  
Incision And Drainage ◽  
Obstetrical Complication ◽  
Life Threatening

Situs inversus totalis is a rare congenital anomaly where asymmetrical positioning of internal organs may affect the surgical and radiological management of certain conditions. Vulvovaginal hematoma is a life-threatening complication of vaginal delivery whose primary treatment usually consists of incision and drainage of the hematoma and ligation of the responsible vessels, followed by wound packing. Failure of these measures to control the bleeding was previously considered as an indication for laparotomy to perform bilateral hypogastric artery ligation and, if needed, a hysterectomy. Relative to major abdominal surgery, selective percutaneous angiographic embolization offers considerable advantages and significant less morbidity. Indeed, angiographic embolization is routinely used as a measure to control refractory pelvic bleeding, though the literature and experience in women with situs inversus totalis are scarce. In this paper, we report a case of postpartum vulvovaginal hematoma in a patient with situs inversus, refractory to conventional treatment, where arteriographic embolization was successfully used to control the bleeding. The management of this obstetrical complication and the use of this minimally invasive technique are also reviewed. To the best of our knowledge, this is the first report in the literature describing the feasibility of this technique in a patient with situs inversus totalis.

scholarly journals SURG-31. SPECTROSCOPIC MRI TO GUIDE BIOPSY OF LOWER GRADE GLIOMAS

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi246-vi246
Author(s):  
Jeffrey Olson ◽  
Brent Weinberg ◽  
Saumya Gurbani ◽  
Karthik Ramesh ◽  
Eduard Schreibmann ◽  
...  
Keyword(s):  
Imaging Method ◽  
Lower Grade ◽  
High Grade ◽  
Mri Imaging ◽  
Contrast Enhanced ◽  
High Resolution Mri ◽  
Histopathologic Diagnosis ◽  
Neuronavigation System ◽  
Life Threatening ◽  
Grade Ii

Abstract Primary brain tumors are serious and life-threatening; thus, accurate histopathologic diagnosis is critical for determining the proper clinical treatment regimen. Grade II/III gliomas (lower grade gliomas, or LGGs), including astrocytomas and oligodendrogliomas, are heterogeneous and potentially contain low- and high-grade areas within the same tumor. Therefore, it is critical to target biopsies to the most aggressive portion of the tumor to avoid tumor under-grading and under-treatment. While glioblastomas are typically targeted based on contrast-enhanced MRI, LGGs have little contrast enhancement to define targets for biopsy treatment guidance. Spectroscopic MRI (sMRI) is a high-resolution MRI imaging method which allows for detection of metabolic abnormalities such as choline and NAA in the entire brain without injection of a contrast agent. We have previously evaluated the relationship between sMRI Cho/NAA ratios and tumor infiltration in surgical specimens from high grade gliomas, demonstrating a strong correlation between sMRI results and glioma infiltration. We also used the location information to correlate sMRI data to genetic and histologic biomarkers (such as 1p19q, IDH, and MGMT). An IRB-approved pilot study to obtain sMRI prior to stereotactic biopsy has been done in 20 non-enhancing LGG cases. Patients with a suspected LGG diagnosis underwent sMRI at the time of their surgical planning MRI. sMRI images were then registered to the T1w-CE and T2/FLAIR images and imported into the Stealth neuronavigation system for biopsy planning. We found that all astrocytomas (regardless of grades) showed strongly elevated Cho/NAA, while the LGGs were hardly delineated on T1w and T2/FLAIR. We found that pathology-confirmed grade II oligodendroglioma do not have choline elevation; however, NAA was mildly decreased, myo-inositol was elevated, and creatine (Cr) was mildly elevated. sMRI is a useful tool to improve biopsy targeting in LGG patients by ensuring that the highest risk regions are sampled.

scholarly journals Successful Treatment of Antiepileptic Drug-Induced DRESS Syndrome with Pulse Methylprednisolone

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Celebi Kocaoglu ◽  
Ceyda Cilasun ◽  
Ece Selma Solak ◽  
Gulcan S. Kurtipek ◽  
Sukru Arslan
Keyword(s):  
Valproic Acid ◽  
Present Report ◽  
Treatment Modalities ◽  
Dress Syndrome ◽  
Internal Organs ◽  
Drug Induced ◽  
Pulse Methylprednisolone ◽  
Lymph Node Enlargement ◽  
Life Threatening ◽  
Systemic Symptoms

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare but potentially life-threatening syndrome characterized by skin rash, fever, lymph node enlargement, and involvement of internal organs. It is most commonly induced by aromatic anticonvulsants and antibiotics. Nonaromatic anticonvulsants are rarely encountered as the causes of DRESS syndrome. In the present report, three discrete cases with DRESS syndrome developing due to three antiepileptic drugs, including valproic acid (nonaromatic), carbamazepine (aromatic), and lamotrigine (aromatic), and their treatment modalities were aimed to be discussed in light of the literature. To the best of our knowledge, our cases are the first children to be treated with pulse methylprednisolone in the literature.

LCNG-TEFM SUBSTITUTION WITH Cl-INACTIVATOR IN PATIENTS WITH HEREDITARY AND ACQUIRED Cl-INH DEFICIENCY AND LIFE-THREATENING ANGIOEDEMA

1987 ◽  
Author(s):  
K Bork ◽  
G Witzke
Keyword(s):  
Acute Treatment ◽  
Clinical Symptoms ◽  
Unknown Origin ◽  
The Other ◽  
Substitution Therapy ◽  
Internal Organs ◽  
Total Absence ◽  
Life Threatening ◽  
Threat To Life

Patients with hereditary car acquired cl-inactivator (Cl-INH) deficiency suffer frcm repeated episodes of oedema of the skin and internal organs, which often constitute a threat to life (laryngeal, pulmonary and brain oedama). The treatment which is rapidly effective in the other, much more common, forms of angio-oedema (idiopathic, allergic or anaphylactoid, often associated with urticaria) has little or no effect in these cases. This applies particularly to treatment with antihistamin agents and corticosteroids. However, in patients with hereditary angiooedana (HAE) Danazol is effective for long-term prophylaxis and the substitution of Cl-INH for acute treatment. In isolated cases long-term prophylaxis, which is generally reliable, cannot be used because of intolerability reactions. Moreover, it is ineffective in the oedema of acquired Cl-INH deficiency.As other forms of therapy did not achieve the desired response, long-term substitution with a concentrate of Cl-inactivator (Behringwerke AG, Marburg) was carried out in 2 patients (H.W., 47 yrs, male, hereditary angiooedana, 9 siblings died from angiooedana; W.K., 55 yrs, male, professional truipeter, suffering from angiooedana of unknown origin for 5 years, without other underlying disorders). The initial values wereSubstitution was carried out according to the clinical symptoms. Patient H.W. required 500 U Cl-inactivator every 4th day and patient W.K. 1000-1500 U every 5th day until. During substitution therapy (which in pat. H.W. has so far been carried out for 8 months and in pat. W.K. for 6 months) there was a rise in Cl-INH and C4 with an almost total absence of clinical syirptans. No undesirable effects were observed.

Embryonic expression pattern of TGF beta type-1 RNA suggests both paracrine and autocrine mechanisms of action

Development ◽  
1988 ◽  
Vol 104 (2) ◽  
pp. 263-273 ◽  
Author(s):  
S.A. Lehnert ◽  
R.J. Akhurst
Keyword(s):  
Fetal Liver ◽  
Biological Activities ◽  
Mechanisms Of Action ◽  
Tgf Beta ◽  
Internal Organs ◽  
Beta Form ◽  
Immunohistochemical Methods ◽  
Adult Bone

The tissue distribution of TGF beta form 1 RNA within mouse embryos of 10.5 to 15.5 days gestational age was investigated using in situ hybridization. As predicted from the prevalence of TGF beta-1 protein in adult bone and platelets, the RNA is highly abundant in fetal bone and in fetal liver megakaryocytes. Our data also reveal previously undocumented sites of synthesis for TGF beta-1, namely epithelia overlying those mesenchymal tissues that are known to contain TGF beta protein as detected by immunohistochemical methods (Heine et al. 1987) and in the mesenchymal tissues of certain internal organs. From a combined knowledge of the distribution of the TGF beta polypeptide (Heine et al. 1987) and its mRNA, and a knowledge of the reported biological activities of TGF beta-1, we invoke both paracrine and autocrine mechanisms of action for this growth factor.

scholarly journals Syahputra Sistem Pakar Metode Case Based Reasoning Untuk Mengidentifikasi Penyakit Psoriasis

2020 ◽  
Author(s):  
M. Syahputra ◽  
Sarjon Defit ◽  
S Sumijan
Keyword(s):  
Chronic Disease ◽  
Expert System ◽  
Testing System ◽  
Case Based Reasoning ◽  
System Software ◽  
Internal Organs ◽  
Processing Stage ◽  
Life Threatening ◽  
Improving Accuracy ◽  
Case Based

Proriasis is a type of chronic disease of the human skin.problem of psoriasis At the end of the day, theis becoming more interesting because the main cause of this disease has not been found, which has only been found while the cause of psoriasis is genetics. Because the cause is not known for sure, this disease is difficult to cure. Although this disease is not contagious and life-threatening to sufferers, it can damage internal organs if not handled properly. This study aims to determine the level of accuracy in identifying psoriasis in humans. There are several types of symptoms that refer to psoriasis. Furthermore, the data is processed manually with themethod Case Based Reasoning and continued by using a-based expert system software website. The processing stage is to use theprocess, which retrieve is a process of finding the similarities between new cases and existing cases in the knowledge base. The results of the data processing are continued with the calculation of the level of accuracy. The result of testing this method is that there are 100% of the 12 test data. Based on the accuracy of the identification results of this system, this study is very precise in the level of identifying the level of accuracy of psoriasis in humans. Expert testing system has been able to identify thedisease psoriasis specific. Through thismethod Case Based Reasoning , the level of accuracy that can be obtained is quite accurate and can help skin and genital specialists in improving accuracy in identifyingdiseases Case Based Reasoning in humans.

scholarly journals A Case of Early Calciphylaxis Diagnosed by Bone Scan

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Jia Di ◽  
Yuqiu Liu ◽  
Dongyan Wang ◽  
Min Yang
Keyword(s):  
Bone Scan ◽  
Clinical Symptoms ◽  
Small Vessel Disease ◽  
Aortic Disease ◽  
Noninvasive Testing ◽  
Testing Methods ◽  
Internal Organs ◽  
High Risk Factors ◽  
Life Threatening ◽  
Proven Case

Calcium uremic aortic disease (calciphylaxis) has long been considered as a rare, life-threatening small vessel disease. The diagnosis of calciphylaxis depends mainly on clinical symptoms and high risk factors, and skin biopsy can be used to confirm the diagnosis. However, noninvasive testing methods are still the focus of exploration currently. There is increasing evidence that bone scintigraphy is helpful in the diagnosis of calciphylaxis, especially for assessing the involvement of muscles and internal organs. Here, we describe a pathology-proven case of calciphylaxis case and the corresponding imaging findings on Tc-99 m MDP bone scan imaging.

scholarly journals Perioperative Application of Transesophageal Echocardiography in Left Atrial Appendage Occlusion in an Elderly Patient with Mirror-Image Dextrocardia and Atrial Fibrillation

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Lu Zhang ◽  
Ming Bai ◽  
Ji-zhe Xu ◽  
Ga-xue Jiang ◽  
Ai-yun Deng ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Transesophageal Echocardiography ◽  
Left Atrial ◽  
Left Atrial Appendage ◽  
Clinical Symptoms ◽  
Mirror Image ◽  
Atrial Appendage ◽  
Internal Organs ◽  
Left Atrial Appendage Occlusion ◽  
Life Threatening

Mirror-image dextrocardia is non-life-threatening but not commonly diagnosed in the clinic. With the internal organs reversed, most of the patients with mirror-image dextrocardia have no clinical symptoms if the dextrocardia is not combined with other intracardiac malformations. Mirror-image dextrocardia is often discovered during other physical check or performing other examinations. In the present study, we reported a successful closure of a left atrial appendage in an 84-year-old patient with mirror-image dextrocardia with atrial fibrillation under the guidance of transesophageal echocardiography (TEE). Detailed perioperative steps of patient procedure description and TEE monitoring were described in this report.

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