scholarly journals Netherton Syndrome in Children: Management and Future Perspectives

2021 ◽  
Vol 9 ◽  
Author(s):  
Federica Barbati ◽  
Mattia Giovannini ◽  
Teresa Oranges ◽  
Lorenzo Lodi ◽  
Simona Barni ◽  
...  

Netherton syndrome (NS) is a genetic, multisystemic disease classically distinguished by a triad of clinical manifestations: congenital ichthyosiform erythroderma, hair shaft abnormalities, and immune dysregulation. Due to the complex pathogenesis of the disease, there are no specific therapies currently accessible for patients with NS. An early diagnosis is crucial to start the correct management of these patients. A multidisciplinary approach, including specialists in immunology, allergology, and dermatology, is necessary to set up the best therapeutic pathway. We conducted a review with the aim to summarize the different therapeutic strategies currently accessible and potentially available in the future for children with NS. However, given the limited data in the literature, the best-tailored management should be decided upon the basis of the specific clinical characteristics of the patients with this rare clinical condition. Further comprehension of the pathophysiology of the disease could lead to more efficacious specific therapeutic options, which could allow a change in the natural history of NS.

2009 ◽  
Vol 34 (1) ◽  
pp. 77-79
Author(s):  
Hannah Ahn ◽  
Richard Yoon

Triads of congenital erythroderma and ichthyosis, hair shaft abnormalities, and immune dysregulation have been recognized as Netherton's syndrome (NS). A pediatric patient with NS is presented. Clinical manifestations are described along with a pertinent review of the literature.


2018 ◽  
Vol 69 (8) ◽  
pp. 2300-2303
Author(s):  
Anca Daniela Braila ◽  
Adrian Neacsu ◽  
Anca Emanuela Musetescu ◽  
Elena Luminita Vircan ◽  
Alesandra Florescu ◽  
...  

Sj�gren�s syndrome (SS) is a multisystemic disease mainly characterized by the hypofunction of the lachrymal and salivary glands and can be either primary or secondary, when related to other autoimmune pathologies. We present the case of a 35-year-old female admitted in the Department of Obstetrics and Gynecology for pregnancy monitoring. The patient had a personal history of a spontaneous abortion one year prior to admission at 5 months of gestation and a maternal history of SS. A multidisciplinary approach with solid obstetrical, rheumatological and neonatal monitoring is essential for best outcomes of the mother and fetus. An early detection of maternal and fetal immune-mediated threats and judicious use of medication is essential in women with autoimmune diseases who plan conceiving.


2021 ◽  
Author(s):  
Cem Korkut ◽  
Mürsel Doğrul

Genghis Khan, the founder of the Mongolian Empire, is a historic figure who has influenced the entire world and societies. The military, economic and political changes he brought to the peoples of Asia spread to other regions over time. He set to work with a holistic world vision and struggled to establish a strong central system. Genghis Khan has influenced not only the history, culture, and architecture of Mongolian society but also other societies and the Turkic world in some regards. It holds an important place in the political history of other Asian societies, particularly the Chinese and Russians who were neighbours of the Mongols at the time. The imperial system set up by Gengis Khan, with its unique economic and social institutions, has become the secret of the growth and expansion of the Mongolian Empire. This book deals with Genghis Khan and his legacy in a multidimensional and comprehensive manner in 17 chapters with a multidisciplinary approach.


2014 ◽  
Vol 4 (3) ◽  
pp. 95-98
Author(s):  
Iana Proskurkina

Abstract The growing number of foreign applicants looking forward to getting education in Ukrainian medical universities makes us find the ways how to improve and make effective the pre-professional training system of foreign medical applicants for further education. The article deals with the issues of the history of formation and development of the preprofessional training system of foreign medical applicants in Ukraine. On the ground of the electronic databases of the official websites of higher educational establishments, the data on years of opening first offices of the dean, departments and preparatory faculties for foreign medical applicants in Ukrainian medical universities are analyzed and systematized. Also the data on the setting up preparatory faculties at other universities who carry out licensed training of foreign students of the medical profile are presented. The data on the operating and management of such institutions in the system of the University administration are generalized. It’s revealed that during the years of its functioning the pre-professional training has changed, in particular the system was commercialized and the institutions involved in training foreign applicants have been reorganized. The modern trends in teaching foreign medical students at the preparatory faculties of the Ukrainian medical universities are displayed. Based on the analysis of the data it is concluded that the system of the pre-professional training of foreign medical applicants was set up in the 50s-60s years of the twentieth century. During this time, some positive experience in the preparation of future international medical specialists has been gained. The system of the pre-professional training of foreign medical applicants has been comprehensively improved and an effective system of managing foreign medical applicants has been created.


2019 ◽  
pp. 134-197
Author(s):  
V.E. . Sergei

The article is dedicated to the history of the Military Historical Museum of Artillery, Engineering and Signal Corps. The author examines the main stages of the museums formation, starting with the foundation of the Arsenal, established in St. Petersburg at the orders of Peter the Great on August 29th 1703 for the safekeeping and preservation of memory, for eternal glory of unique arms and military trophies. In 1756, on the base of the Arsenals collection, the General Inspector of Artillery Count P.I. created the Memorial Hall, set up at the Arsenal, on St. Petersburgs Liteyny Avenue. By the end of the 18th century the collection included over 6,000 exhibits. In 1868 the Memorial Hall was transferred to the New Arsenal, at the Crownwork of the Petropavlovsky Fortress, and renamed the Artillery Museum (since 1903 the Artillery Historical Museum). A large part of the credit for the development and popularization of the collection must be given to the historian N.E. Brandenburg, the man rightly considered the founder of Russias military museums, who was the chief curator from 1872 to 1903. During the Civil and Great Patriotic Wars a significant part of the museums holdings were evacuated to Yaroslavl and Novosibirsk. Thanks to the undying devotion of the museums staff, it not only survived, but increased its collection. In the 1960s over 100,000 exhibits were transferred from the holdings of the Central Historical Museum of Military Engineering and the Military Signal Corps Museum. In 1991 the collection also received the entire Museum of General Field Marshal M.I. Kutuzov, transferred from the Polish town of Bolesawjec. The Military Historical Museum of Artillery, Engineering and Signal Coprs is now one of the largest museums of military history in the world. It holds an invaluable collection of artillery and ammunition, of firearms and cold steel arms, military engineering and signal technology, military banners, uniforms, a rich collection of paintings and graphic works, orders and medals, as well as extensive archives, all dedicated to the history of Russian artillery and the feats of our nations defenders.Статья посвящена истории создания ВоенноИсторического музея артиллерии, инженерных войск и войск связи. Автор рассматривает основные этапы становления музея, начиная с основания Арсенала, созданного в СанктПетербурге по приказу Петра I 29 августа 1703 года для хранения и сохранения памяти, во имя вечной славы уникального оружия и военных трофеев. В 1756 году на базе коллекции Арсенала генеральный инспектор артиллерии граф П. И. создал мемориальный зал, установленный при Арсенале, на Литейном проспекте СанктПетербурга. К концу 18 века коллекция насчитывала более 6000 экспонатов. В 1868 году Мемориальный зал был перенесен в Новый Арсенал, на венец Петропавловской крепости, и переименован в Артиллерийский музей (с 1903 года Артиллерийский Исторический музей). Большая заслуга в развитии и популяризации коллекции принадлежит историку Н.Е. Бранденбургу, человеку, по праву считавшемуся основателем российских военных музеев, который был главным хранителем с 1872 по 1903 год. В годы Гражданской и Великой Отечественной войн значительная часть фондов музея была эвакуирована в Ярославль и Новосибирск. Благодаря неусыпной преданности сотрудников музея, он не только сохранился, но и пополнил свою коллекцию. В 1960х годах более 100 000 экспонатов были переданы из фондов Центрального исторического военноинженерного музея и Музея войск связи. В 1991 году коллекцию также получил весь музей генералфельдмаршала М. И. Кутузова, переданный из польского города Болеславец. Военноисторический музей артиллерии, инженерных войск и войск связи в настоящее время является одним из крупнейших музеев военной истории в мире. Здесь хранится бесценная коллекция артиллерии и боеприпасов, огнестрельного и холодного оружия, военной техники и сигнальной техники, военных знамен, обмундирования, богатая коллекция живописных и графических работ, орденов и медалей, а также обширные архивы, посвященные истории русской артиллерии и подвигам защитников нашего народа.


2020 ◽  
Vol 16 ◽  
Author(s):  
Muhammad Bilal Tahir ◽  
Aleena Shoukat ◽  
Tahir Iqbal ◽  
Asma Ayub ◽  
Saff-e Awal ◽  
...  

: The field of nanosensors has been gaining a lot of attention due to its properties such as mechanical and electrical ever since its first discovery by Dr. Wolter and first mechanical sensor in 1994. The rapidly growing demand of nanosensors has become profitable for a multidisciplinary approach in designing and fabrication of materials and strategies for potential applications. Frequent stimulating advancements are being suggested and established in recent years and thus heading towards multiple applications including food safety, healthcare, environmental monitoring, and biomedical research. Nanofabrication being an efficient method has been used in different industries like medical pharmaceutical for their complex functional geometry at a lower scale. These nanofabrications apply through different methods. There are five most commonly known methods which are frequently used, including top-down lithography, molecular self-assembly, bottom-up assembly, heat and pull method for fabrication of biosensors, etching for fabrication of nanosensors etc. Nanofabrication help at the nanoscale to design and work with small models. But these models due to their small size and being sensitive need more care for use as well as more training and experience to do work with. All methods used for nanofabrication are good and helpful. But more preferred is molecular self-assembly as it is helpful in mass production. Nanofabrication has become an emerging and developing field and it assumed that in near future our world is known by the new devices of nanofabrication.


Author(s):  
Sara Abolghasemi ◽  
Mohammad Alizadeh ◽  
Ali Hashemi ◽  
Shabnam Tehrani

Introduction: Epididymo-orchitis is a common urological disease among men. Little is known about the clinical and epidemiological aspects of the disease in Iran. Thus, the present study was aimed to investigate the etiology, clinical sequelae and risk factors of patients with epididymo-orchitis in Tehran, Iran. Materials and Methods: Patients presenting with epididymo-orchitis were prospectively analyzed in order to study the etiology and pattern of the disease. Bacteriological, molecular and serological tests were undertaken to look for Chlamydia trachomatis, Neisseria gonorrhoeae, Brucella spp., Mycoplasma spp, and other bacteria. Results: Fifty patients with epididymo-orchitis were evaluated according to their clinical symptoms, duration of symptoms, physical examination, and laboratory studies. The mean age of the patients was 53 years. Fever, dysuria, pain in the flanks, urinary frequency and discharges occurred in 58.0%, 50.0%, 50.0%, 28.0% and 6.0%, respectively. Bacterial pathogen was identified in 26% (13/50) of patients by urine culture. Escherichia coli was the etiological agent in 11/13 patients (84.6%). Two out of 50 patients (4.0%) were also positive for Chlamydia trachomatis. Two samples were serologically positive for Brucella spp. High Mean age, fever, urinary frequency, history of the underlying disease and history of urinary tract infections were found to have a significant association with the positive bacteriologic urine culture (P<0.05). Conclusions: The most common clinical manifestations were fever, dysuria, and abdominal pain. E. coli and C. trachomatis were the major causative agents. Use of a set of diagnostic approaches including clinical symptoms, urine culture and more precise techniques such as PCR should be taken into consideration for the definitive diagnosis.


Genetics ◽  
2003 ◽  
Vol 164 (4) ◽  
pp. 1511-1518 ◽  
Author(s):  
Ning Yu ◽  
Michael I Jensen-Seaman ◽  
Leona Chemnick ◽  
Judith R Kidd ◽  
Amos S Deinard ◽  
...  

Abstract Comparison of the levels of nucleotide diversity in humans and apes may provide much insight into the mechanisms of maintenance of DNA polymorphism and the demographic history of these organisms. In the past, abundant mitochondrial DNA (mtDNA) polymorphism data indicated that nucleotide diversity (π) is more than threefold higher in chimpanzees than in humans. Furthermore, it has recently been claimed, on the basis of limited data, that this is also true for nuclear DNA. In this study we sequenced 50 noncoding, nonrepetitive DNA segments randomly chosen from the nuclear genome in 9 bonobos and 17 chimpanzees. Surprisingly, the π value for bonobos is only 0.078%, even somewhat lower than that (0.088%) for humans for the same 50 segments. The π values are 0.092, 0.130, and 0.082% for East, Central, and West African chimpanzees, respectively, and 0.132% for all chimpanzees. These values are similar to or at most only 1.5 times higher than that for humans. The much larger difference in mtDNA diversity than in nuclear DNA diversity between humans and chimpanzees is puzzling. We speculate that it is due mainly to a reduction in effective population size (Ne) in the human lineage after the human-chimpanzee divergence, because a reduction in Ne has a stronger effect on mtDNA diversity than on nuclear DNA diversity.


2021 ◽  
Vol 9 (3) ◽  
pp. e001664
Author(s):  
Maria Gonzalez-Cao ◽  
Teresa Puertolas ◽  
Mar Riveiro ◽  
Eva Muñoz-Couselo ◽  
Carolina Ortiz ◽  
...  

Cancer immunotherapy based on the use of antibodies targeting the so-called checkpoint inhibitors, such as programmed cell death-1 receptor, its ligand, or CTLA-4, has shown durable clinical benefit and survival improvement in melanoma and other tumors. However, there are some special situations that could be a challenge for clinical management. Persons with chronic infections, such as HIV-1 or viral hepatitis, latent tuberculosis, or a history of solid organ transplantation, could be candidates for cancer immunotherapy, but their management requires a multidisciplinary approach. The Spanish Melanoma Group (GEM) panel in collaboration with experts in virology and immunology from different centers in Spain reviewed the literature and developed evidence-based guidelines for cancer immunotherapy management in patients with chronic infections and immunosuppression. These are the first clinical guidelines for cancer immunotherapy treatment in special challenging populations. Cancer immunotherapy in chronically infected or immunosuppressed patients is feasible but needs a multidisciplinary approach in order to decrease the risk of complications related to the coexistent comorbidities.


2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Alcivan Batista de Morais Filho ◽  
Thiago Luis de Holanda Rego ◽  
Letícia de Lima Mendonça ◽  
Sulyanne Saraiva de Almeida ◽  
Mariana Lima da Nóbrega ◽  
...  

Abstract Hemorrhagic stroke (HS) is a major cause of death and disability worldwide, despite being less common, it presents more aggressively and leads to more severe sequelae than ischemic stroke. There are two types of HS: Intracerebral Hemorrhage (ICH) and Subarachnoid Hemorrhage (SAH), differing not only in the site of bleeding, but also in the mechanisms responsible for acute and subacute symptoms. This is a systematic review of databases in search of works of the last five years relating to the comprehension of both kinds of HS. Sixty two articles composed the direct findings of the recent literature and were further characterized to construct the pathophysiology in the order of events. The road to the understanding of the spontaneous HS pathophysiology is far from complete. Our findings show specific and individual results relating to the natural history of the disease of ICH and SAH, presenting common and different risk factors, distinct and similar clinical manifestations at onset or later days to weeks, and possible complications for both.


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