Laboratory diagnosis and clinical manifestations of patients with dysfibrinogenemia / Laboratoriumsdiagnostik und klinische Manifestation der Dysfribrinogenämie

2008 ◽  
Vol 32 (6) ◽  
pp. 401-405
Author(s):  
Wolfgang Miesbach
Keyword(s):  
Clinical Manifestations ◽  
Laboratory Diagnosis ◽  
Klinische Manifestation

The Diagnosis and Clinical Manifestations of Activated Protein C Resistance: A Case Report and Review of the Literature

1996 ◽  
Vol 1 (4) ◽  
pp. 275-280 ◽  
Author(s):  
Howard Daniel Hoerl ◽  
Aldo Tabares ◽  
Kandice Kottke-Marchant
Keyword(s):  
Case Report ◽  
Protein C ◽  
Activated Protein C ◽  
Clinical Manifestations ◽  
Factor V Leiden ◽  
Laboratory Diagnosis ◽  
Factor V ◽  
Review Of The Literature ◽  
Activated Protein C Resistance ◽  
Genetic Anomaly

Activated protein C resistance (APCR) is a recently discovered, medically important cause of venous thrombosis. More than 95% of cases are due to factor V Leiden (FVL), a mutated form of factor V that is resistant to degradation by activated protein C. The prevalence of this disorder, which is inherited in an autosomal dominant fashion, is approximately 5% among asymptomatic people of European heritage. In addition, 20 to 60% of patient cohorts with previous thrombosis demonstrate APCR, making it the most common known genetic cause of abnormal thrombophilia. Current laboratory techniques available for diagnosis include functional assays, such as the APC ratio, as well as DNA-based tests that detect the specific genetic anomaly responsible for FVL. A case report is presented, along with a review of the literature highlighting epidemiology, pathogenesis, clinical features and methods for laboratory diagnosis.

Epidemiological profile of children and adolescents with COVID-19: a scoping review

2021 ◽  
Vol 74 (suppl 1) ◽  
Author(s):  
Fabiane Blanco Silva Bernardino ◽  
Lidiane Cristina da Silva Alencastro ◽  
Ronaldo Antonio da Silva ◽  
Antonia Dinágila do Nascimento Ribeiro ◽  
Geovane Roberto de Campos Castilho ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Scoping Review ◽  
World Literature ◽  
Clinical Manifestations ◽  
Laboratory Diagnosis ◽  
Hospital Length ◽  
Socioeconomic Conditions ◽  
Disease Condition ◽  
Epidemiological Profile ◽  
Group Sex

ABSTRACT Objective: to map the epidemiological profile of children and adolescents with COVID-19 in the world literature. Methods: a scoping review systematized by the Joanna Briggs Institute protocol in the PubMed/MEDLINE, CINAHL, Web of Science, Scopus, Science direct and Google Scholar databases. Articles with children and/or adolescents with laboratory diagnosis of COVID-19 were used. Results: thirty-two articles were included in the review. Most children and adolescents were male, with contamination by family transmission. The most frequent clinical manifestations were fever, cough and diarrhea. Ten studies cited pre-existing condition/disease, and hospital length ranged from one to twenty days. Three deaths were reported and no study presented race/color, education and socioeconomic conditions. Conclusion: it was possible to screen the epidemiological profile with information about age group, sex, probable contamination of the disease, clinical manifestations, presence of pre-existing disease/condition, hospitalization and deaths among children and adolescents with COVID-19.

scholarly journals Three-Year Clinical Follow-Up of Children Intrauterine Exposed to Zika Virus

Viruses ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 523
Author(s):  
Rosa Estela Gazeta ◽  
Ana Paula Antunes Pascalicchio Bertozzi ◽  
Rita de Cássia de Aguirre Bernardes Dezena ◽  
Andrea Cristina Botelho Silva ◽  
Thamirys Cosmo Gillo Fajardo ◽  
...  
Keyword(s):  
Zika Virus ◽  
Clinical Manifestations ◽  
Laboratory Diagnosis ◽  
Autism Spectrum ◽  
First Year ◽  
Cognitive Delay ◽  
Long Term Follow Up ◽  
Simplex Virus ◽  
First Year Of Life

Congenital Zika virus (ZIKV) infection may present with a broad spectrum of clinical manifestations. Some sequelae, particularly neurodevelopmental problems, may have a later onset. We conducted a prospective cohort study of 799 high-risk pregnant women who were followed up until delivery. Eighty-three women and/or newborns were considered ZIKV exposed and/or infected. Laboratory diagnosis was made by polymerase chain reaction in the pregnant mothers and their respective newborns, as well as Dengue virus, Chikungunya virus, and ZIKV serology. Serology for toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, and syphilis infections were also performed in microcephalic newborns. The newborns included in the study were followed up until their third birthday. Developmental delay was observed in nine patients (13.2%): mild cognitive delay in three patients, speech delay in three patients, autism spectrum disorder in two patients, and severe neurological abnormalities in one microcephalic patient; sensorineural hearing loss, three patients and dysphagia, six patients. Microcephaly due to ZIKV occurred in three patients (3.6%). Clinical manifestations can appear after the first year of life in children infected/exposed to ZIKV, emphasizing the need for long-term follow-up.

scholarly journals SOME BIOCHEMICAL IMPLICATIONS IN AUTISM SPECTRUM DISORDER

2014 ◽  
Vol 2 (3) ◽  
Author(s):  
Cristiane Pinheiro Lázaro ◽  
Milena Pereira Pondé ◽  
Luiz Erlon A. Rodrigues
Keyword(s):  
Autism Spectrum Disorder ◽  
Repetitive Behavior ◽  
Clinical Manifestations ◽  
Laboratory Diagnosis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Physiological Processes ◽  
Oppositional Defiant ◽  
Enzymatic Regulation ◽  
Nosological Entity

Autism spectrum disorder (ASD) affects 0.6 to 1% of the population worldwide. It is characterized by a deficit in communication and social interaction, and is associated with restricted and repetitive behavior patterns. Stereotypes include inflexible adhesion to specific non-functional routines and rituals and a persistent concern with parts of objects rather than the object as a whole. Up to the present time, there are no specific tests that permit a laboratory diagnosis of the disorder to be carried out, and the syndrome is confirmed by clinical observation in the first 36 months of the patient’s life. Clinical manifestations such as epilepsy, mental retardation, sleep disorders, hyperactivity, irritability and auto- and heteroaggressiveness may alter the patient’s prognosis. Around 50% of children with ASD fulfill the criteria for attention deficit hyperactivity disorder (ADHD). Symptoms of oppositional defiant disorder (ODD) associated with autism appear to indicate a distinct phenotype requiring specific therapeutic measures. ASD is not a discrete nosological entity but, rather, a multifactorial syndrome associated with different phenotypic and biological presentations. Various disorders such as pathologies of the gastrointestinal tract have been linked to ASD, not only insofar as causality is concerned but also with respect to their role in aggravating the disease. Other associated disorders include lesions in physiological processes such as the redox metabolism, mitochondrial dysfunction and enzymatic regulation of essential metabolites. Currently, studies on direct and indirect markers of mitochondrial metabolism associated with anomalies found in the brain of these patients point to the possibility of these markers being used as tools with which to reach a diagnosis that would be laboratory based rather than merely clinical.

scholarly journals Disseminated and chronic Lyme borreliosis in Norway, 1995 – 2004

2005 ◽  
Vol 10 (10) ◽  
pp. 1-2 ◽  
Author(s):  
K Nygård ◽  
A B Brantsaeter ◽  
R Mehl
Keyword(s):  
Lyme Borreliosis ◽  
Erythema Migrans ◽  
Clinical Manifestations ◽  
Laboratory Diagnosis ◽  
Incidence Rates ◽  
Tick Bites ◽  
Serological Tests ◽  
Clear Trend ◽  
Acrodermatitis Chronica Atrophicans ◽  
Insect Repellents

Lyme borreliosis is the most common tickborne infection in Norway. All clinical manifestations of Lyme borreliosis other than erythema migrans are notifiable to Folkehelseinstituttet, the Norwegian Institute of Public Health. During the period 1995-2004 a total of 1506 cases of disseminated and chronic Lyme borreliosis were reported. Serological tests were the basis for laboratory diagnosis in almost all cases. The annual numbers of cases showed no clear trend over the period, but varied each year between 120 and 253 cases, with the highest number of cases reported in 2004. Seventy five per cent of cases with information on time of onset were in patients who fell ill during the months of June to October. There was marked geographical variation in reported incidence rates, with the highest rates reported from coastal counties in southern and central Norway. Fifty six per cent of the cases were in males and 44% in females. The highest incidence rate was found in children aged between 5 and 9 years. Neuroborreliosis was the most common clinical manifestation (71%), followed by arthritis/arthralgia (22%) and acrodermatitis chronica atrophicans (5%). Forty six per cent of patients were admitted to hospital. Prevention of borreliosis in Norway relies on measures to prevent tick bites, such as use of protective clothing and insect repellents, and early detection and removal of ticks. Antibiotics are generally not recommended for prophylaxis after tick bites in Norway.

LABORATORY DIAGNOSTIC OF HUMAN BABESIOSIS

2019 ◽  
Vol 64 (9) ◽  
pp. 560-564
Author(s):  
I. V. Kukina ◽  
O. P. Zelya ◽  
L. S. Karan
Keyword(s):  
Clinical Manifestations ◽  
Morphological Characteristics ◽  
Laboratory Diagnosis ◽  
18S Rrna Gene ◽  
Host Cells ◽  
Rrna Gene ◽  
Reference Centre ◽  
Blood Smears ◽  
Fatal Course ◽  
Human Babesiosis

Human babesiosis caused by parasitic protozoan Babesia spp. is sporadic zoonotic vector-borne infection. The course of babesiosis and prognosis depend on the type of pathogen and on the patient’s immunological status. Significance this disease is a severe, often fatal course with immunocompromissed patients resembling complicated falciparum malaria. In Europe to date, more than 50 cases of confirmed human babesiosis have been reported in most cases caused by Babesia divergens. Possible there are unrecognized cases. Pathogen is an obligate intraerythrocyte parasite of vertebrate animals. The organism is transmitted from animal to man through bite of Ixodidae tick. Asexual reproduction of the parasite occurs in a vertebrate host. The pathogenesis of babesiosis is caused by the destruction of host cells. Intensive haemolysis of red blood cells leads to the development of haemolytic anemia, haematuria, jaundice, and polyorgan failure may develop. The clinical manifestations of the disease are nonspecific. Detection of intraerythrocyte parasites in blood smears stained Gimsa-Romanovsky confirms the proposed diagnosis. Blood smears and some laboratory signs from fatal cases were analyzed in the Reference-centre of E. I. Martsinovskiĭ Institute. Original microphotographs B. divergens are shown. The main morphological forms of the parasite are shown. In addition to the well-known tetrades of parasites «Maltese Cross», for the first time, the parasites dividing into 6 interconnected trophozoites - “sextet” - were found. Originally, the invasion of Babesia in a normoblast is shown. An unusually high multiple invasion (14 parasites) of erythrocytes is noted. Because the patients, initially, were incorrectly diagnosed with malaria, the differential diagnosis of Babesia with Plasmodium is described step-by-step. It is important, since the treatment with antimalarial drugs is ineffective. Deviation laboratory signs are discussed. Complex morphological characteristics allowed us to speciated the parasites as B. divergens. DNA was detected in the sample with specific primers Bab di hsp70F/Bab di hsp70R and the probe Bab di hsp70P. The sequence demonstrated 99-100% and 98% similarity to the 18S rRNA gene fragment of B. divergence and Babesia venatorum, respectively. Molecular biological and serological methods of laboratory diagnosis of babesiosis are considered.

scholarly journals First Autochthonous Coinfected Anthrax in an Immunocompetent Patient

2015 ◽  
Vol 2015 ◽  
pp. 1-5
Author(s):  
Parvaneh Afshar ◽  
Mohammad Taghi Hedayati ◽  
Narges Aslani ◽  
Sadegh Khodavaisy ◽  
Farhang Babamahmoodi ◽  
...  
Keyword(s):  
Mortality Rate ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
Laboratory Diagnosis ◽  
Immunocompetent Patient ◽  
Gradual Improvement ◽  
Anthrax Infection ◽  
Affected Tissue ◽  
Cutaneous Anthrax ◽  
One Year

Cutaneous anthrax has a mortality rate of 20% if no antibacterial treatment is applied. The clinical manifestations of cutaneous anthrax are obviously striking, but coinfection may produce atypical lesions and mask the clinical manifestations and proper laboratory diagnosis. Anthrax is known to be more common in the Middle East and Iran is one of the countries in which the zoonotic form of anthrax may still be encountered. We report a case of a 19-years-old male who used to apply Venetian ceruse on his skin. Venetian ceruse (also known as Spirits of Saturn) is an old cosmetic product used for skin whitening traditionally made from sheep’s spinal cord. The patient referred to the Referral Laboratory, Mazandaran University of Medical Sciences, Sari, Iran, with atypical dermatosis, pronounced pain, and oedema of the affected tissue. It was confirmed by both conventional and molecular analysis that culture was a mixture ofBacillus anthracisandTrichophyton interdigitale. The patient was initially treated with ceftriaxone (1000 mg/day for two weeks), gentamicin (1.5–2 mg/kg/day), terbinafine (200 mg/week for one month), and 1% clotrimazole cream (5 weeks) two times per day which resulted in gradual improvement. No relapse could be detected after one-year follow-up. Anthrax infection might present a broader spectrum of symptoms than expected by clinicians. These unfamiliar characteristics may lead to delayed diagnosis, inadequate treatment, and higher mortality rate. Clinicians need to be aware of this issue in order to have successful management over this infection.

scholarly journals Recombinant Multiepitope Protein for Early Detection of Dengue Infections

2006 ◽  
Vol 13 (1) ◽  
pp. 59-67 ◽  
Author(s):  
Ravulapalli AnandaRao ◽  
Sathyamangalam Swaminathan ◽  
Sirimali Fernando ◽  
Asha M. Jana ◽  
Navin Khanna
Keyword(s):  
Dengue Fever ◽  
Dengue Infection ◽  
Clinical Manifestations ◽  
Laboratory Diagnosis ◽  
Viral Disease ◽  
M Protein ◽  
Enzyme Linked Immunosorbent Assay ◽  
Protein Fusion ◽  
Promising Alternative ◽  
Strip Test

ABSTRACT Dengue fever is a mosquito-borne viral disease prevalent mainly in tropical countries. As the clinical manifestations of dengue are not very unique, laboratory diagnosis is crucial in identifying cases of dengue infection. Detection of dengue infection based on the identification of antidengue antibodies has emerged as a practical and reliable means of diagnosing dengue fever. We recently developed a customized recombinant dengue multiepitope protein (r-DME-G) that can specifically detect the immunoglobulin G (IgG) class of antidengue antibodies in patient sera. Using this strategy, we have now created another dengue multiepitope protein, r-DME-M, with specificity for the IgM class of antidengue antibodies. A synthetic gene encoding the r-DME-M protein was expressed as a maltose-binding protein fusion in Escherichia coli. The recombinant protein was purified in a single affinity chromatographic step to obtain yields of ∼15 mg purified protein/liter of culture. The purified protein was used to develop an in-house IgM enzyme-linked immunosorbent assay (ELISA) and tested using a panel of 172 patient sera characterized using the commercially available Dengue Duo rapid strip test from PanBio, Australia. The IgM ELISA results showed that the r-DME-M protein not only recognized all IgM+ samples identified by the PanBio test but also identified samples missed by the latter test. We also successfully adapted the r-DME-M protein to a rapid strip test format. This approach of creating customized antigens coupled to overexpression in E. coli and simple purification offers a promising alternative option to dengue diagnosis with the potential to circumvent the drawbacks of the whole virus antigen-based commercial kits.

scholarly journals Practical Guidance for Clinical Microbiology Laboratories: Diagnosis of Bacterial Gastroenteritis

2015 ◽  
Vol 28 (1) ◽  
pp. 3-31 ◽  
Author(s):  
Romney M. Humphries ◽  
Andrea J. Linscott
Keyword(s):  
Clinical Microbiology ◽  
Clinical Manifestations ◽  
Laboratory Diagnosis ◽  
Invasive Disease ◽  
Stool Culture ◽  
Content Type ◽  
Specimen Collection ◽  
Primary Means ◽  
Bacterial Gastroenteritis ◽  
Stool Cultures

SUMMARY Bacterial gastroenteritis is a disease that is pervasive in both the developing and developed worlds. While for the most part bacterial gastroenteritis is self-limiting, identification of an etiological agent by bacterial stool culture is required for the management of patients with severe or prolonged diarrhea, symptoms consistent with invasive disease, or a history that may predict a complicated course of disease. Importantly, characterization of bacterial enteropathogens from stool cultures in clinical laboratories is one of the primary means by which public health officials identify and track outbreaks of bacterial gastroenteritis. This article provides guidance for clinical microbiology laboratories that perform stool cultures. The general characteristics, epidemiology, and clinical manifestations of key bacterial enteropathogens are summarized. Information regarding optimal specimen collection, transport, and processing and current diagnostic tests and testing algorithms is provided. This article is an update of Cumitech 12A (P. H. Gilligan, J. M. Janda, M. A. Karmali, and J. M. Miller, Cumitech 12A, Laboratory diagnosis of bacterial diarrhea, 1992).

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