scholarly journals Ritka örökletes anyagcsere-betegségek diagnosztikája: laboratóriumi vizsgálati megközelítések

2017 ◽  
Vol 158 (48) ◽  
pp. 1903-1907
Author(s):  
Eszter Szabó ◽  
Lídia Balogh ◽  
Attila Szabó ◽  
Ildikó Szatmári
Keyword(s):  
Early Diagnosis ◽  
Genetic Disorders ◽  
Correct Diagnosis ◽  
Clinical Signs ◽  
Diagnostic Algorithm ◽  
Signs And Symptoms ◽  
Laboratory Studies ◽  
Laboratory Measurements ◽  
Inborn Errors ◽  
Appropriate Therapy

Abstract: Inherited errors of metabolism are rare genetic disorders characterized by diverse clinical and biochemical phenotypes. The complexity of signs and symptoms often presents a challenge for both clinicians and laboratory specialists. In many cases, prevention of permanent neurological symptoms or death in patients presenting these disorders is dependent on early diagnosis and introduction of appropriate therapy. For professionals it is indispensable to be familiar with the major clinical signs of inborn errors of metabolism and with the necessary and available laboratory studies to achieve an early diagnosis. The review tries to give a way of approach, diagnostic algorithm of laboratory measurements for the correct diagnosis in inherited errors of metabolism. The combination of biochemical and clinical signs, results of special metabolic investigations represent a portentous challenge in general practice. For the correct diagnosis of an inherited error of metabolism, the teamwork between clinicians and laboratory specialists is indispensable. Orv Hetil. 2017; 158(48): 1903–1907.

CMV Colitis Mimicking Recurrent Inflammatory Bowel Disease: Report of Three Cases

2007 ◽  
Vol 73 (1) ◽  
pp. 58-61 ◽  
Author(s):  
Dorna Rezania ◽  
Abderrhman Ouban ◽  
Jorge Marcet ◽  
Scott Kelley ◽  
Domenico Coppola
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Cytomegalovirus Infection ◽  
Correct Diagnosis ◽  
Signs And Symptoms ◽  
Cytomegalovirus Colitis ◽  
Pathologic Features ◽  
Appropriate Therapy ◽  
Inflammatory Bowel ◽  
Cmv Colitis

The association between cytomegalovirus infection and inflammatory bowel disease challenges both the clinician and the pathologist to establish the correct diagnosis and to prescribe the most appropriate form of therapy. To understand this association the authors report three patients who presented with signs and symptoms mimicking reactivated inflammatory bowel disease who responded poorly to aggressive treatment of inflammatory bowel disease. Microscopic examination, in all three cases revealed numerous nuclear and cytoplasmic viral inclusions, as demonstrated by cytomegalovirus immunohistochemistry, as well as histologic findings consistent with inflammatory bowel disease (ulcerative colitis and/or Crohn's disease). Because the clinical pathologic features of cytomegalovirus colitis and inflammatory bowel disease often overlap, and because of the possible coexistence of cytomegalovirus colitis with idiopathic colitis, the possibility of cytomegalovirus infection should be always considered, so that the most appropriate therapy can be instituted for these patients.

Utility of MolecuLight i:X for Managing Bacterial Burden in Pediatric Burns

2019 ◽  
Author(s):  
Nawras Farhan ◽  
Steven Jeffery
Keyword(s):  
Fluorescence Imaging ◽  
Clinical Signs ◽  
Diagnostic Algorithm ◽  
Signs And Symptoms ◽  
Bacterial Burden ◽  
Burn Wound ◽  
Imaging Device ◽  
Burn Wounds ◽  
Clinical Signs And Symptoms ◽  
Clinically Significant

Abstract Pediatric burn injuries are vulnerable to severe complications, most often infection, making prompt and precise diagnosis of bacterial bioburden vital to preventing detrimental consequences and optimizing patients’ outcomes. Currently, burn wounds are assessed for infection via examining the clinical signs and symptoms of infection, which can be confirmed by swab culture analysis. While the former approach is subjective and experience-dependant, the latter technique is susceptible to missing subsurface, biofilm-associated colonization, and any peripheral bacterial burden, and also delays confirmation by up to 5 days. The MolecuLight i:X is a handheld, noncontact fluorescence imaging device, which can reveal real-time information about clinically significant levels of bacteria and their biodistribution in surface and subsurface burn wound tissues. We conducted a single-center observational study to assess the device efficacy in identifying critical bacterial levels in pediatric burn wounds and to test the children’s compliance and the overall feasibility of the device integration into the current diagnostic practice. Ten patients with 16 wounds were recruited and assessed for the presence or absence of clinical signs and symptoms of infection and the presence or absence of bacterial fluorescence on images, with swabs taken to confirm findings. Results demonstrate the device’s ability to visualize clinically significant bacterial burden and to localize distribution of pathogens. All clinicians agreed on the high compliance with the device and high feasibility of incorporating the device into routine wound assessments. The results of this study may pave the way toward including bacterial fluorescence imaging into the standard diagnostic algorithm for pediatric burn population.

Eye Movement Disorders in Clinical Practice

2014 ◽  
Author(s):  
Shirley H. Wray
Keyword(s):  
Eye Movement ◽  
Movement Disorders ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Clinical History ◽  
Oculomotor System ◽  
Appropriate Therapy ◽  
Examination Techniques ◽  
Eye Movement Disorders ◽  
Lesion Localization

This resource offers comprehensive instruction on the diagnosis and treatment of all varieties of eye movement disorders, and reflects the importance of correlating clinical signs of disorders in the oculomotor system with their neuroanatomic and neurophysiologic architecture. With its focus on signs and symptoms, it advances lesion localization of eye movement disorders as the central clinical concern, and presents a fresh review of bedside examination techniques in the ER, ICU, and walk-in clinic; productive ways of taking a clinical history; sign interpretation; source lesion localization; and, where appropriate, therapy. This resource is arranged according to objective signs - like ptosis, neuromuscular syndromes, dizziness, vertigo, and syndromes of the medulla - rather than disease entities, and features over 50 clinical cases, each one providing the anatomical guidance needed to make critical diagnostic and management decisions in patients who often present with abnormal eye movements.

Role of Dentist in Diagnosis and Management of Mucormycosis in Association with COVID-19

2021 ◽  
Vol 11 (7) ◽  
pp. 159-163
Author(s):  
Piyush Dongre ◽  
Tanya Bansal
Keyword(s):  
Early Diagnosis ◽  
Fungal Infections ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Review Article ◽  
The Novel ◽  
Diagnosis And Management ◽  
Global Pandemic ◽  
Clinical Signs And Symptoms

In surge of the novel corona virus, there is increase in the frequency of fungal infections. Mucormycosis is one of the deep fungal infections which are increasing rapidly in this global pandemic period. Thus the early diagnosis and management is of utmost importance to decline the rate of this fatal infection. The clinical signs and symptoms and the culture reports are strictly considered in the management of oral fungal infection. This review article focuses on the importance of early diagnosis, prevention and management of mucormycosis and the role of the dentist in doing so. Key words: Mucormycosis, diagnosis, management, dentist.

scholarly journals Management of Juvenile Temporo-mandibular Joint Ankylosis by Gap Arthoplasty

2014 ◽  
Vol 4 (1) ◽  
pp. 44-48
Author(s):  
S Mahmud Mishu ◽  
Md Nazmul Hasan ◽  
Ali Hossain ◽  
Shahiqul Jabbar
Keyword(s):  
Early Diagnosis ◽  
Orthognathic Surgery ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Skeletal Deformity ◽  
Tmj Ankylosis ◽  
Clinical Signs And Symptoms ◽  
Joint Ankylosis ◽  
Costochondral Graft ◽  
Bony Ankylosis

Bony ankylosis of the temporomandibular joint (TMJ) in a male patient was not diagnosed until the patient reached his early teens, at which time the condition was treated with a costochondral graft. At the time of treatment, there was an expectation that further orthognathic surgery would be required to correct the skeletal deformity. However, with the release of the ankylosis and growth of the costochondral graft, a good functional and esthetic result was achieved without further surgery. It is important that family dentists be aware of the clinical signs and symptoms of TMJ ankylosis, to allow early diagnosis and treatment. DOI: http://dx.doi.org/10.3329/updcj.v4i1.21172 Update Dent. Coll. j: 2014; 4 (1): 44-48

scholarly journals Use of the Fonseca's questionnaire to assess the prevalence and severity of temporomandibular disorders in brazilian dental undergraduates

2007 ◽  
Vol 18 (2) ◽  
pp. 163-167 ◽  
Author(s):  
Kariny Nomura ◽  
Mathias Vitti ◽  
Anamaria Siriani de Oliveira ◽  
Thaís Cristina Chaves ◽  
Marisa Semprini ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Neck Pain ◽  
Temporomandibular Joint ◽  
Temporomandibular Disorders ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Public University ◽  
Men Students ◽  
Young Population ◽  
Clinical Signs And Symptoms

This study to assessed the prevalence of signs and symptoms of temporomandibular disorders (TMD) by means of the frequency distribution of data for 218 dentistry students from a Brazilian public university using the Fonseca's questionnaire. The group consisted of 96 men and 122 women, with an average age of 20 years. Of the students, 53.21% showed some level of TMD: 35.78% mild TMD 11.93% moderate and 5.5% severe. Women were the most affected group, with 63.11% showing some level of TMD, against 40.62% of men. When considering only severe TMD, women are approximately 9 times more affected than men. Students with any level of TMD showed marked characteristics: 76.72% considered themselves tense people; 71.55% reported to clench or grind their teeth; 65.52% reported clicking of the temporomandibular joint; 64.66% reported frequent headache and 61.21% neck pain. In conclusion, clinical signs and symptoms of TMD can occur in young population and this information is of great importance for the early diagnosis of the dysfunction.

scholarly journals Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm

2020 ◽  
Vol 21 (3) ◽  
pp. 979 ◽  
Author(s):  
Hanneke A. Haijes ◽  
Maria van der Ham ◽  
Hubertus C.M.T. Prinsen ◽  
Melissa H. Broeks ◽  
Peter M. van Hasselt ◽  
...  
Keyword(s):  
High Resolution Mass Spectrometry ◽  
Correct Diagnosis ◽  
Diagnostic Algorithm ◽  
Data Interpretation ◽  
Dried Blood Spots ◽  
Untargeted Metabolomics ◽  
Plasma Samples ◽  
Inborn Errors ◽  
Diagnostic Screening ◽  
Knowledge Based

Untargeted metabolomics may become a standard approach to address diagnostic requests, but, at present, data interpretation is very labor-intensive. To facilitate its implementation in metabolic diagnostic screening, we developed a method for automated data interpretation that preselects the most likely inborn errors of metabolism (IEM). The input parameters of the knowledge-based algorithm were (1) weight scores assigned to 268 unique metabolites for 119 different IEM based on literature and expert opinion, and (2) metabolite Z-scores and ranks based on direct-infusion high resolution mass spectrometry. The output was a ranked list of differential diagnoses (DD) per sample. The algorithm was first optimized using a training set of 110 dried blood spots (DBS) comprising 23 different IEM and 86 plasma samples comprising 21 different IEM. Further optimization was performed using a set of 96 DBS consisting of 53 different IEM. The diagnostic value was validated in a set of 115 plasma samples, which included 58 different IEM and resulted in the correct diagnosis being included in the DD of 72% of the samples, comprising 44 different IEM. The median length of the DD was 10 IEM, and the correct diagnosis ranked first in 37% of the samples. Here, we demonstrate the accuracy of the diagnostic algorithm in preselecting the most likely IEM, based on the untargeted metabolomics of a single sample. We show, as a proof of principle, that automated data interpretation has the potential to facilitate the implementation of untargeted metabolomics for metabolic diagnostic screening, and we provide suggestions for further optimization of the algorithm to improve diagnostic accuracy.

scholarly journals ASPEK GENETIK TALASEMIA

2013 ◽  
Vol 1 (3) ◽  
Author(s):  
Joyce Regar
Keyword(s):  
Family History ◽  
Life Span ◽  
Genetic Factor ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Laboratory Examinations ◽  
Clinical Signs And Symptoms ◽  
Haemoglobin Synthesis

Abstract: Genetic disorders are caused by the presence of affected genes. Thalassaemia, a kind of anaemia due to a genetic disorder, reveals defects in haemoglobin synthesis and chain balance. Signs and symtomps depend on the severity of this disease which vary from slight anemia to facies Cooley, the main characteristic of thalassaemia patients. Diagnosis of thalassaemia is based on clinical signs and symptoms, ethnicity, family history, laboratory examinations, and other supporting examinations. Good management can prolong the life span of thalassaemia patients. Key words: thalassaemia, genetic factor, haemoglobin Abstrak: Penyakit genetik adalah penyakit yang disebabkan oleh karena adanya kelainan dalam susunan gen seseorang. Talasemia merupakan salah satu jenis anemia akibat adanya defek dalam sintesis hemoglobin dan keseimbangan rantainya dengan faktor genetik sebagai penyebab utama. Gejala yang timbul tergantung tingkat keparahan penyakit ini, mulai dari anemia ringan hingga facies Cooley yang merupakan ciri khas pengidap talasemia. Diagnosis talasemia dapat ditegakkan berdasarkan gejala klinik, asal etnis, riwayat keluarga, pemeriksaan keluarga, pemeriksaan laboratorium, dan pemeriksaan penunjang lainnya. Penatalaksanaan yang baik dapat memperpanjang masa hidup dari penderita talasemia. Kata kunci: talasemia, faktor genetik, hemoglobin

Diagnostic of immune-mediated neuropathies

2011 ◽  
Vol 152 (39) ◽  
pp. 1560-1568
Author(s):  
Péter Diószeghy
Keyword(s):  
Systemic Vasculitis ◽  
Correct Diagnosis ◽  
Clinical Signs ◽  
Sensory Neuropathy ◽  
Signs And Symptoms ◽  
Motor Neuropathy ◽  
Vasculitic Neuropathy ◽  
Functional Variants ◽  
Precise Knowledge ◽  
Immune Mediated

Separate discussion of immune-mediated neuropathies from other neuropathies is justified by the serious consequences of the natural course of these diseases, like disability and sometimes even life threatening conditions. On the other hand nowadays effective treatments already exist, and with timely and correct diagnosis an appropriately chosen treatment may result in significant improvement of quality of life, occasionally even complete recovery. These are rare diseases, and the increasing number of different variants makes it more difficult to recognize them. Their diagnosis is based on the precise knowledge of clinical signs and symptoms, and it is verified by the help of neurophysiologic and laboratory, first of all CSF examinations. Description of clinical features of the classic acute immune-mediated neuropathy, characterized by ascending paresis and demyelination is followed by a summary of characteristics of newly recognized axonal, regional and functional variants. Chronic immune-mediated demyelinating polyneuropathies are not diagnosed in due number even today. This paper does not only present the classic form but it also introduces the ever increasing special variants, like distal acquired demyelinating sensory neuropathy, Lewis-Sumner syndrome, multifocal motor neuropathy and paraproteinemic neuropathies. Vasculitic neuropathies can be divided into two groups: systemic and non-systemic ones. The first sign of a vasculitic neuropathy is a progressive, painful mononeuropathy; the classic clinical presentation is the mononeuritis multiplex. It is characterized by general signs like fever, loss of weight, fatigue. In systemic vasculitis organ specific symptoms are also present. From the paraneoplastic diseases the subacute sensory neuropathy and the sensory neuronopathy are members of the immune-mediated neuropathies, being most frequently associated with small cell lung cancer. Orv. Hetil., 2011, 152, 1560–1568.

Calciphylaxis: A Cause of Necrotic Ulcers in Renal Failure

1998 ◽  
Vol 2 (4) ◽  
pp. 242-244 ◽  
Author(s):  
Amer N. Kalaaji ◽  
Margaret C. Douglass ◽  
Marsha Chaffins ◽  
Lori Lowe
Keyword(s):  
Early Diagnosis ◽  
Early Recognition ◽  
Clinical Signs ◽  
Signs And Symptoms ◽  
Threatening Condition ◽  
Life Threatening ◽  
Clinical Signs And Symptoms ◽  
Initiation Of Therapy ◽  
Stage Renal Disease ◽  
End Stage

Background: Calciphylaxis is a rare and life-threatening condition occurring in patients with end-stage renal disease on dialysis. The diagnosis is frequently delayed or missed and therapy is often unsuccessful. Objective: The clinical and pathological components of calciphylaxis are emphasized in a patient that may facilitate early diagnosis and initiation of therapy. Results: Early recognition of the clinical signs and symptoms of calciphylaxis is crucial. The tissue diagnosis requires large elliptical biopsies because histological findings are segmental and often missed. Conclusion: Early diagnosis and intervention in calciphylaxis is critical. Parathyroidectomy should be considered in all cases.

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