Dušan Trpinac

Bio: Dušan Trpinac is an academic researcher from University of Belgrade. The author has contributed to research in topics: Incontinentia pigmenti & Peritoneal dialysis. The author has an hindex of 7, co-authored 20 publications receiving 329 citations.

Incontinentia pigmenti diagnostic criteria update

Abstract: In 1993 diagnostic criteria for incontinentia pigmenti (IP), a genodermatosis in which skin changes are usually combined with anomalies of other organs, were established. Approximately a decade ago, IKBKG gene mutation was discovered as a cause for IP. This finding has not been included in IP diagnosis so far. In addition, literature data pointed out a few other clinical findings as possible IP diagnostic criteria. Literature facts concerning IP diagnosis were analyzed. Different organ anomalies, their frequency and severity, were analyzed in the context of applicability as IP diagnostic criteria. Taking into account analyzed data from the literature, the proposal of updated IP diagnostic criteria was presented. We propose as major criteria one of the stages of IP skin lesions. As updated IP minor criteria in our proposal we included: dental, ocular; central nervous system (CNS), hair, nail, palate, breast and nipple anomalies; multiple male miscarriages, and IP pathohistological findings. In the diagnosis of IP, the presence of IKBKG mutation typical for IP, and existence of family relatives with diagnosed IP are taken into account.

Systematic review of central nervous system anomalies in incontinentia pigmenti

Abstract: The objective of this study was to present a systematic review of the central nervous system (CNS) types of anomalies and to consider the possibility to include CNS anomalies in Incontinentia pigmenti (IP) criteria. The analyzed literature data from 1,393 IP cases were from the period 1993–2012. CNS anomalies were diagnosed for 30.44% of the investigated IP patients. The total number of CNS types of anomalies per patient was 1.62. In the present study there was no significantly higher number of anomalies per patient in females than males. The most frequent CNS types of anomalies were seizures, motor impairment, mental retardation, and microcephaly. The most frequently registered CNS lesions found using brain imaging methods were brain infarcts or necrosis, brain atrophies, and corpus callosum lesions. IKBKG exon 4–10 deletion was present in 86.00% of genetically confirmed IP patients. The frequency of CNS anomalies, similar to the frequency of retinal anomalies in IP patients, concurrent with their severity, supports their recognition in the list of IP minor criteria.

Dental and oral anomalies in incontinentia pigmenti: a systematic review

Abstract: Incontinentia pigmenti (IP) is an X-linked genodermatosis caused by a mutation of the IKBKG gene. The objective of this study was to present a systematic review of the dental and oral types of anomalies, to determine the total number and sex distribution of the anomalies, and to analyze possible therapies. We analyzed the literature data from 1,286 IP cases from the period 1993–2010. Dental and/or oral anomalies were diagnosed for 54.38% of the investigated IP patients. Most of the anomaly types were dental, and the most frequent of these were dental shape anomalies, hypodontia, and delayed dentition. The most frequent oral anomaly types were cleft palate and high arched palate. IKBKG exon 4–10 deletion was present in 86.36% of genetically confirmed IP patients. According to the frequency, dental and/or oral anomalies represent the most frequent and important IP minor criteria. The most frequent mutation was IKBKG exon 4–10 deletion. The majority of dental anomalies and some of the oral anomalies could be corrected. Because of the presence of cleft palate and high arched palate in IP patients, these two anomalies may be considered as diagnostic IP minor criteria as well.

Ocular anomalies in incontinentia pigmenti: literature review and meta-analysis.

Abstract: SUMMARY Introduction Incontinentia pigmenti (IP) is an X­linked genodermatosis in which skin changes are combined with dental, eye and central nervous system anomalies. Objective The goal of the study was to analyze ocular findings, IP minor criteria in available literature concerning IP cases published until now. Methods We have done meta­analysis of 1931 IP patients found in 302 references published until 2010. Comparison of data published for the 1906­1976 and 1976­2010 periods was made. The collected data were mainly frequencies of ocular anomalies. Chi­square test was used to compare observed frequen­ cies with their expectations. Results Of total number of IP patients, 1,227 were ophthalmologically investigated. In 449 such patients 972 eye anomalies were registered, 2.16 anomalies per patient. Proportion of ophthalmologically inves­ tigated IP patients in the period 1906­1975 (70%) was higher than corresponding proportion (60%) for the period 1976­2010. For 1906­2010 period 36.5% IP patients with eye anomalies were diagnosed. The number of amaurotic eyes per patient did not significantly differ for the two periods (p=0.50; >0.05). The total number of eye anomalies per patient significantly differed for the same periods (p=0.00005; <0.05). Retinal anomalies were most frequent in both periods. Conclusion This study suggests that IP is far more frequent than anyone could estimate. We believe that this study, covering 1906­2010 period, gives more reliable information about ophthalmological find­ ings in IP; considering them as severe anomalies. Early detection and treatment of ophthalmological, neurological etc. findings may prevent severe consequences that IP may cause.

Clinical features of incontinentia pigmenti with emphasis on oral and dental abnormalities

Abstract: One of interesting aspects in dermatology is the fact that skin may reflect the presence of anomalies in other organs and tissues One such example is incontinentia pigmenti (IP), a rare, complex, X-linked genodermatosis Clinical manifestations of IP according to evolution and prognosis can be considered as skin, as well as dental, eye, and central nervous system, changes We have investigated a total of nine families with 25 subjects, 23 females and 2 males In 12 female and 2 male subjects, all of them with clinical characteristics of IP, we observed the following abnormalities: teeth-shape anomalies (coni- or peg-like teeth), the presence of numerous cariotic teeth, early dental loss, delayed eruption, partial anodontia, and gothic palate To our knowledge, this is the first time that the presence of gothic palate in patients with IP has been documented As we found out, in two female subjects and one male subject, in which nonrandomed X inactivation did not occur, gothic palate could be supposed as characteristic of IP

Basic Techniques for Transmission Electron Microscopy.

Abstract: Excellent book is always being the best friend for spending little time in your office, night time, bus, and everywhere. It will be a good way to just look, open, and read the book while in that time. As known, experience and skill don't always come with the much money to acquire them. Reading this book with the PDF basic techniques for transmission electron microscopy will let you know more things.

Incontinentia pigmenti diagnostic criteria update

Abstract: In 1993 diagnostic criteria for incontinentia pigmenti (IP), a genodermatosis in which skin changes are usually combined with anomalies of other organs, were established. Approximately a decade ago, IKBKG gene mutation was discovered as a cause for IP. This finding has not been included in IP diagnosis so far. In addition, literature data pointed out a few other clinical findings as possible IP diagnostic criteria. Literature facts concerning IP diagnosis were analyzed. Different organ anomalies, their frequency and severity, were analyzed in the context of applicability as IP diagnostic criteria. Taking into account analyzed data from the literature, the proposal of updated IP diagnostic criteria was presented. We propose as major criteria one of the stages of IP skin lesions. As updated IP minor criteria in our proposal we included: dental, ocular; central nervous system (CNS), hair, nail, palate, breast and nipple anomalies; multiple male miscarriages, and IP pathohistological findings. In the diagnosis of IP, the presence of IKBKG mutation typical for IP, and existence of family relatives with diagnosed IP are taken into account.

The histophysiology and pathophysiology of the peritoneum

Abstract: The peritoneum is an extensive serous organ with both epithelial and mesenchymal features and a variety of functions. Diseases such as inflammatory peritonitis and peritoneal carcinomatosis can induce disturbance of the complex physiological functions. To understand the peritoneal response in disease, normal embryonic development, anatomy in healthy conditions and physiology of the peritoneum have to be understood. This review aims to summarize and discuss the literature on these basic peritoneal characteristics. The peritoneum is a dynamic organ capable of adapting its structure and functions to various physiological and pathological conditions. It is a key element in regulation of inflammatory responses, exchange of peritoneal fluid and prevention of fibrosis in the abdominal cavity. Disturbance of these mechanisms may lead to serious conditions such as the production of large amounts of ascites, the generation of fibrotic adhesions, inflammatory peritonitis and peritoneal carcinomatosis. The difficulty to treat diseases, such as inflammatory peritonitis and peritoneal carcinomatosis, stresses the necessity for new therapeutic strategies. This review provides a detailed background on the peritoneal anatomy, microenvironment and immunologic responses which is essential to generate new hypotheses for future research.

Management of Genetic Syndromes

Abstract: clinical geneticists have prepared for genetic counselling appointments by contacting an acknowledged expert in a particular syndrome and getting the latest information from them. As the field has grown and the demands on the service increased, such contact is becoming a luxury. “Management of Genetic Syndromes” edited by Suzanne Cassidy and Judith Allanson to some extent replaces the personal contact. This book, consisting of 30 chapters on 29 syndromes, aims to inform geneticists, primary care physicians, paediatricians and affected families about practical aspects of syndrome diagnosis and management. Each chapter contains a mixture of literature review and personal experience – so useful to families and yet so hard to publish in peer-reviewed journals. The involvement of multiple authors always carries a risk of excessive repetition and a lack of a common style. Cassiday and Allanson have maintained firm editorial control over their expert contributors. Each chapter is laid out in a consistent format beginning with an introduction covering incidence, diagnostic criteria, aetiology, pathogenesis and genetics, diagnostic testing and differential diagnosis, followed by manifestations and management including growth and feeding, treatment, development and behaviour and finally resources available to professionals and patients. As you might expect, some chapters work better than others. This is not entirely down to the writing skills of the chapter authors. Some syndromes fit the format naturally, for example Williams Syndrome. Others, in particular where the options for medical intervention are very limited such as the Trisomy 18 and 13, give rise to rather general and bland content. Production costs have almost certainly limited the quality of the illustrations. However, the photographs included are generally of high quality and it is gratifying to see so many smiling faces without the eyes blacked out. I particularly liked the photos in the chapter on Prader Willi syndrome showing the same girl at 7 years of age when the diagnosis was made and at 8 years of age after a regimen of exercise and diet restriction. The point about the difficulty of making the diagnosis of Prader Willi in a nonobese patient was certainly clearly made. The neurofibromatosis chapter provided a particularly clear synopsis of the condition. I was also intrigued by the Drosophila homologue for NF1, which interacts with a cAMP adenylate cyclase pathway implicated in learning problems. I wonder how the fruit fly with a learning disability is recognised? Not having looked at the literature on fetal alcohol syndrome for some time, I found the review of the condition very clear and informative. A suspicion of the diagnosis should be supplemented by a “four digit diagnostic code” reflecting four key diagnostic features of fetal alcohol syndrome; growth deficiency, characteristic facial phenotype, brain dysfunction and gestational alcohol exposure; 4444 is the most severe, whilst 1111 represents a complete lack of diagnostic features. This book will be very popular with geneticists in training, providing as it does, a comprehensive review of many important genetic syndromes. It will also be a useful reference for paediatricians and primary care doctors needing a reliable balanced source of information on a syndrome affecting one of their patients. A particular chapter may be useful for parents who have already done quite a lot of researching themselves but generally this book is likely to work best as a reference for professionals. M. Porteous Management of Genetic Syndromes Suzanne B. Cassidy, Judith E. Allanson (eds), John Wiley and Sons, ISBN 0-4713-1286-X, hardcover, 554 pages, £96.50 Hum Genet (2002) 110 :293 DOI 10.1007/s00439-002-0684-8