Medycyna wieku rozwojowego最新文献_第8页

Zespół łamliwego Chromosomu x i Choroby FMR1-zależne - Objawy Kliniczne, Epidemiologia i Podłoże Molekularne Choroby 脆性染色体综合征x与FMR1依赖性疾病

Medycyna wieku rozwojowego Pub Date : 2018-03-01 DOI: 10.34763/devperiodmed.20182201.1421

A. Landowska, S. Rzońca, J. Bal, M. Gos

{"title":"Zespół łamliwego Chromosomu x i Choroby FMR1-zależne - Objawy Kliniczne, Epidemiologia i Podłoże Molekularne Choroby","authors":"A. Landowska, S. Rzońca, J. Bal, M. Gos","doi":"10.34763/devperiodmed.20182201.1421","DOIUrl":"https://doi.org/10.34763/devperiodmed.20182201.1421","url":null,"abstract":"Streszczenie Zespół łamliwego chromosomu X (ang. Fragile X Syndrome, FXS) jest, po zespole Downa, najczęstszą dziedziczną przyczyną niepełnosprawności intelektualnej (NI). Stopień niepełnosprawności intelektualnej pacjentów z FXS jest różny i zależy głównie od płci. Zaburzeniom intelektualnym towarzyszą dodatkowe objawy takie jak opóźnienie rozwoju psychoruchowego, zaburzenia zachowania czy emocji. W ponad 99% przypadków, choroba spowodowana jest występowaniem mutacji dynamicznej w genie FMR1 zlokalizowanym na chromosomie X. W wyniku ekspansji trójki nukleotydów CGG (>200 powtórzeń) dochodzi do zahamowania ekspresji genu, a tym samym znacznego obniżenia poziomu białka FMRP kodowanego przez gen FMR1. Ekspansja sekwencji CGG do zakresu premutacji (55-200 powtórzeń CGG) warunkuje wystąpienie nosicielstwa FXS i chorób FMR1-zależnych takich jak: przedwczesne wygasanie funkcji jajników związane z zespołem łamliwego chromosomu X (ang. Fragile X-associated Primary Ovarian Insufficiency, FXPOI) oraz zespołu drżenia i ataksji związanego z zespołem łamliwego chromosomu X (ang. Fragile X-associated Tremor/Ataxia Syndrome, FXTAS). W przypadku obu tych chorób objawy kliniczne występują dopiero u ludzi dorosłych. Celem pracy jest przybliżenie aktualnej wiedzy dotyczącej podłoża molekularnego i epidemiologii zespołu łamliwego chromosomu X oraz innych chorób FMR1-zależnych.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"22 1","pages":"14 - 21"},"PeriodicalIF":0.0,"publicationDate":"2018-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43627880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

Testicular Necrosis Secondary to Incarcerated Inguinal Hernia in Male Infants. Own Observations 男婴嵌顿性腹股沟疝继发睾丸坏死。自己的观察

Medycyna wieku rozwojowego Pub Date : 2018-03-01 DOI: 10.34763/devperiodmed.20182201.6570

T. Dudek-Warchoł, Wojciech Gług, Aleksandra Kurek, Przemysław Bombiński, S. Warchoł

{"title":"Testicular Necrosis Secondary to Incarcerated Inguinal Hernia in Male Infants. Own Observations","authors":"T. Dudek-Warchoł, Wojciech Gług, Aleksandra Kurek, Przemysław Bombiński, S. Warchoł","doi":"10.34763/devperiodmed.20182201.6570","DOIUrl":"https://doi.org/10.34763/devperiodmed.20182201.6570","url":null,"abstract":"Abstract One of the possible consequences of incarcerated inguinal hernia in boys is testicular ischemia because of the prolonged compression of spermatic cord structures by the sac contents, resulting in ipsilateral testicular atrophy. This complication is well described in the literature and occurs in 5-34% of patients. The incidence of testicular atrophy secondary to incarcerated hernia is estimated to be 2-3%. Testicular necrosis as the result of hernia incarceration is, however, an extremely rare clinical setting. We present 4 male infants aged 3-10 weeks with inguinal hernia incarceration which led to ipsilateral testicular loss. All the boys had to be operated on because of irreducible incarcerated hernia and in all the cases testicular necrosis was found intraoperatively. The time of incarceration before surgical intervention ranged from 4 to 12 hours (mean 6.75). Our data show that every case of hernia incarceration in a very young male infant requires rapid diagnosis and proper intervention, i.e. surgical treatment, instead of repeated attempts of manual reduction. Ultrasound examination should estimate not only blood flow through the incarcerated intestinal loop, but also through the ipsilateral testis. Moreover, during the operation of the incarcerated hernia in a boy it is necessary to estimate the ipsilateral testis.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"22 1","pages":"65 - 70"},"PeriodicalIF":0.0,"publicationDate":"2018-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41552442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Physical Activity During Pregnancy - Past and Present 妊娠期间的体育活动——过去和现在

Medycyna wieku rozwojowego Pub Date : 2018-03-01 DOI: 10.34763/devperiodmed.20182201.0913

M. Katz

引用次数: 2

Zespół łamliwego Chromosomu X i Choroby FMR1-zależne - Postępowanie Diagnostyczne Na Podstawie Doświadczeń własnych

Medycyna wieku rozwojowego Pub Date : 2018-03-01 DOI: 10.34763/devperiodmed.20182201.2232

A. Landowska, S. Rzońca, J. Bal, M. Gos

{"title":"Zespół łamliwego Chromosomu X i Choroby FMR1-zależne - Postępowanie Diagnostyczne Na Podstawie Doświadczeń własnych","authors":"A. Landowska, S. Rzońca, J. Bal, M. Gos","doi":"10.34763/devperiodmed.20182201.2232","DOIUrl":"https://doi.org/10.34763/devperiodmed.20182201.2232","url":null,"abstract":"Streszczenie Obecność mutacji dynamicznej w genie FMR1 zlokalizowanym na chromosomie X (Xq28) stanowi główną przyczynę wystąpienia zespołu łamliwego chromosomu X. Ze względu na fakt, że jest to jedna z częściej identyfikowanych chorób, w których przebiegu stwierdza się niepełnosprawność intelektualną i zaburzenia ze spektrum autyzmu, badanie w kierunku tej choroby jest elementem rutynowej diagnostyki genetycznej u pacjentów z tego typu zaburzeniami. W chwili obecnej standardem diagnostycznym są badania molekularne oparte o technikę PCR umożliwiające identyfikację alleli z zakresu prawidłowego (do 54 powtórzeń CGG, w tym alleli z zakresu tzw. „szarej strefy” – 45-54 powtórzenia CGG), premutacji (55-200 powtórzeń CGG) i pełnej mutacji (>200 powtórzeń CGG). W artykule przedstawiono podstawowe metody stosowane w diagnostyce molekularnej zespołu łamliwego chromosomu X i innych chorób FMR1-zależnych, tj. test przesiewowy z analizą GeneScan, test TP-PCR oraz metody wykorzystywane do analizy metylacji. Omówiono zalety i ograniczenia poszczególnych technik oraz sposób interpretacji uzyskiwanych wyników. Przedstawiono także schemat postępowania diagnostycznego stosowany w Zakładzie Genetyki Medycznej IMiD, zgodny z zaleceniami European Molecular Genetics Quality Network.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"22 1","pages":"22 - 32"},"PeriodicalIF":0.0,"publicationDate":"2018-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43660672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Role of Modern Diagnostic Imaging in Diagnosing and Differentiating Kidney Diseases in Children 现代诊断影像学在儿童肾脏疾病诊断和鉴别诊断中的作用

Medycyna wieku rozwojowego Pub Date : 2018-03-01 DOI: 10.34763/devperiodmed.20182201.8187

Artur Maliborski, A. Zegadło, Małgorzata Placzyńska, M. Sopińska, M. Lichosik, K. Jobs

{"title":"The Role of Modern Diagnostic Imaging in Diagnosing and Differentiating Kidney Diseases in Children","authors":"Artur Maliborski, A. Zegadło, Małgorzata Placzyńska, M. Sopińska, M. Lichosik, K. Jobs","doi":"10.34763/devperiodmed.20182201.8187","DOIUrl":"https://doi.org/10.34763/devperiodmed.20182201.8187","url":null,"abstract":"Abstract Urinary tract diseases are in the group of the most commonly diagnosed medical conditions in pediatric patients. Many diseases with different etiologies are accompanied by pain, fever, hematuria, or urinary tract dysfunction. Those most common ones in children are urinary tract infections and congenital malformation. They can also represent tumors or changes caused by systemic diseases. Clinical tests and even more often additional imaging studies are required to make a proper diagnosis of urinary tract diseases. Just a few decades ago urography, cystography or voiding cystourethrography were the main methods in diagnostic imaging of the urinary tract. Today’s imaging methods supported by digital radiographic and fluoroscopy systems, high sensitivity detectors with quantum detection, advanced algorithms eliminating motion artifacts, modern medical imaging monitors with a resolution of three or even eight megapixels significantly differ from conventional radiographic methods. The methods that are currently usually performed are: computed tomography, magnetic resonance imaging, isotopic methods and ultrasonography using elastography and new solutions in Doppler imaging. Modern techniques are currently focused on reducing radiation exposure with better imaging capabilities. The development of these techniques became an essential diagnostic aid in nephrological and urological practice. The aim of this paper is to present the latest solutions that are currently used in the diagnostic imaging of urinary tract diseases.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"22 1","pages":"81 - 87"},"PeriodicalIF":0.0,"publicationDate":"2018-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43160940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Zakażenie Wrodzone Wirusem Cytomegalii - Problem Wciąż Aktualny (na Podstawie Doświadczenia własnego Oraz Literatury) 巨细胞病毒感染。问题仍然存在（基于经验和文献）

Medycyna wieku rozwojowego Pub Date : 2018-03-01 DOI: 10.34763/devperiodmed.20182201.4957

Dorota Lisowska-Mikołajków, A. Mikołajków, Jędrzej Reczuch, B. Królak-Olejnik

引用次数: 1

Cortisol deficiency as a rare cause of neonatal cholestasis. 皮质醇缺乏症是新生儿胆汁淤积症的罕见病因。

Medycyna wieku rozwojowego Pub Date : 2018-01-01

Patryk Lipiński, Karolina Kot, Irena Jankowska, Mieczysław Szalecki

引用次数: 0

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland. 21-羟化酶缺乏症导致的典型先天性肾上腺增生——波兰新生儿筛查项目中的下一个疾病。

Medycyna wieku rozwojowego Pub Date : 2018-01-01 DOI: 10.32388/96v1jw

M. Ginalska-Malinowska

{"title":"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland.","authors":"M. Ginalska-Malinowska","doi":"10.32388/96v1jw","DOIUrl":"https://doi.org/10.32388/96v1jw","url":null,"abstract":"Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. The most common form of CAH is caused by mutations in CYP21A, the gene encoding the adrenal steroid 21-hydroxylase enzyme. Deficiency of the enzyme leads to life-threatening adrenocortical insufficiency, which is not demonstrable during the first days of life. Additionally, some of the affected neonates have varying degrees of pathology of the external genitalia, classified as disorders of sex development (DSD). These make it difficult to recognize the sex of the affected neonate or lead to incorrect sex assignment . CAH has been included in neonatal screening programs in many countries of the world since the late of 1970s. The main benefit of the screening is early diagnosis and prevention of neonatal mortality in children with salt-wasting CAH. Early recognition of the disease is also helpful in correct sex assignment of DSD neonates. In 2016 Poland joined the group of countries which conduct neonatal screening for 21-hydroxylase deficient CAH and the condition is now included in the neonatal screening program. Therefore, it is possible to recognize the disease soon after birth in all Polish newborns and to start the prompt replacement steroid therapy. As the information on the suspicion or diagnosis of CAH in very young newborns has recently reached neonatologists, pediatricians, and general practitioners, and not only pediatric endocrinologists, the aim of this paper is to deliver the most necessary information on the disease to a wider group of doctors, not familiar with CAH.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"22 2 1","pages":"197-200"},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69627059","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

Factors affecting the differentiation of the Apgar score and the biochemical correlation of fetal well-being - a prospective observational clinical study. 影响阿普加评分区分和胎儿健康生化相关性的因素--一项前瞻性观察临床研究。

Medycyna wieku rozwojowego Pub Date : 2018-01-01 Epub Date: 2021-01-29 DOI: 10.34763/devperiodmed.20182203.238246

Maria Kostro, Natalia Jacyna, Ewa Głuszczak-Idziakowska, Katarzyna Sułek-Kamas, Grzegorz Jakiel, Maria Wilińska

{"title":"Factors affecting the differentiation of the Apgar score and the biochemical correlation of fetal well-being - a prospective observational clinical study.","authors":"Maria Kostro, Natalia Jacyna, Ewa Głuszczak-Idziakowska, Katarzyna Sułek-Kamas, Grzegorz Jakiel, Maria Wilińska","doi":"10.34763/devperiodmed.20182203.238246","DOIUrl":"10.34763/devperiodmed.20182203.238246","url":null,"abstract":"Objective: The purpose of the study was to identify the features of both the labor and the assisting physicians when evaluating the newborn according to the Apgar score and how these correlate with the biochemical markers of fetal well-being in order to make the Apgar score more objective.Materials and methods: A prospective observational clinical study conducted in a 3rd reference level center between 1st April 2014 and 31st March 2015. The study enrolled 17 neonatologists and 1527 term newborns.Results: The Apgar score is highest after natural vaginal delivery, lower after instrumental labor (p <0.001). The pH of the umbilical cord blood and lactate concentration correlate better with a high score than with a lowered one. The young age of a physician does not reduce Apgar score reliability. There were no differences in Apgar assessment according to physicians' training and the time of labor. There were no correlations between abnormalities in postnatal central nervous system ultrasound and the Apgar score.Conclusion: Biochemical tests of umbilical cord blood significantly increase the Apgar score reliability.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"22 3","pages":"238-246"},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522882/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36543829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Malignant gastrointestinal neuroectodermal tumor (clear cell sarcoma-like tumor of the gastrointestinal tract) of the small intestine in a 12-year-old boy. 12岁男孩小肠恶性胃肠道神经外胚层肿瘤（胃肠道透明细胞肉瘤样肿瘤）。

Medycyna wieku rozwojowego Pub Date : 2018-01-01

Przemysław Wolak, Andrzej Wincewicz, Piotr Czauderna, Michał Spałek, Anna Kruczak, Sławka Urbaniak-Wąsik, Janusz Ryś, Elżbieta Michalak, Martyna Woltanowska, Stanisław Sulkowski

{"title":"Malignant gastrointestinal neuroectodermal tumor (clear cell sarcoma-like tumor of the gastrointestinal tract) of the small intestine in a 12-year-old boy.","authors":"Przemysław Wolak, Andrzej Wincewicz, Piotr Czauderna, Michał Spałek, Anna Kruczak, Sławka Urbaniak-Wąsik, Janusz Ryś, Elżbieta Michalak, Martyna Woltanowska, Stanisław Sulkowski","doi":"","DOIUrl":"","url":null,"abstract":"The aim of this paper is a clinical and anatomopathological demonstration of a malignant lesion, a gastrointestinal neuroectodermal tumor (GNET), as an exceedingly rare cause of ileus in the pediatric population. Specifically, we present the case of a 12-year-old boy who showed dramatic weight loss, hypochromic anemia, fever, dehydration, exaggerated granulation of the terminal ileum, and mechanical ileus due to the obstruction by an intramural tumor of the small intestine. A 50cm-long part of the small intestine with pathological stricture was surgically removed, sampled and routinely fixed and stained with hematoxylin and eosin. The additional immunostains that were preformed were: PAS, S-100, HMB-45, NSE, LCA, CK AE1 / AE3, desmin, SMA, vimentin, CD99, NSE, synaptophysin, WT-1, calretinin, and DOG-1. Moreover, fluorescent in situ hybridization (FISH) with the EWSR1 Break Apart FISH Probe was applied. The neoplasm was composed of nests and alveolar patterns of frankly malignant clear cells with immunoreactivity to S-100, vimentin, and CD 99. The FISH technique detected chromosomal breaking at 22q12. The tumor metastasized to both the mesenteric lymph nodes and a number of hepatic segments. With several chemotherapy protocols, repeat laparotomies, and liver thermal ablations, the patient had a 1.5-year-long survival from the moment of diagnosis. The diagnosis of this malignancy requires both histopathological evaluation and molecular analysis, and the follow-up is based on careful clinical imaging of the neoplastic spread in order to apply proper surgical and oncological treatments. In conclusion, the clinical course of GNET was highly aggressive.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":"22 4","pages":"358-363"},"PeriodicalIF":0.0,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11870093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36857402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0