Reporte de un probable caso de Hemoglobina S / Talasemia Beta.

We report the case of a patient with Hemoglobin S / Thalassemia. It is feasible to recognize this infrequent disease by its clinical presentation and the aid of clinical laboratory . On this patient, the diagnosis was established based on the clinical findings, hematological evaluation (with careful observation of the red cell morphology and reticulocyte count) and electrophoretic analysis of hemoglobin. We discusse the physiopathology, clinical manifestations, treatment and alternative of prevention of this disease.

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Nutritional B12 Deficiency in Infants of Vitamin B12-Deficient Mothers

International Journal for Vitamin and Nutrition Research ◽

10.1024/0300-9831/a000080 ◽

2011 ◽

Vol 81 (5) ◽

pp. 328-334 ◽

Cited By ~ 6

Author(s):

Oya Halicioglu ◽

Sezin Asik Akman ◽

Sumer Sutcuoglu ◽

Berna Atabay ◽

Meral Turker ◽

...

Keyword(s):

Megaloblastic Anemia ◽

Maternal Diet ◽

Clinical Manifestations ◽

Serum Vitamin ◽

Failure To Thrive ◽

Clinical Findings ◽

Vitamin B ◽

Animal Products ◽

Hematological Evaluation ◽

Nutritional Vitamin

Aim: Nutritional vitamin B12 deficiency in infants may occur because the maternal diet contains inadequate animal products. Clinical presentations of the infants who had nutritional vitamin B12 deficiency were analyzed in this study. Subjects and Methods: Patients with nutritional vitamin B12 deficiency were enrolled in the study between 2003 and 2010. The diagnosis was based on a nutritional history of mothers and infants, clinical findings, hematological evaluation, and low level of serum vitamin B12. Results: Thirty children aged 1 - 21 months constituted the study group. Poverty was the main cause of inadequate consumption of animal products of the mothers. All infants had predominantly breastfed. The most common symptoms were developmental delay, paleness, apathy, lethargy, anorexia, and failure to thrive. Hematological findings were megaloblastic anemia (83.3 %), thrombocytopenia (30 %), and severe anemia (13.3 %). All of the mothers had low serum B12 levels; eight of them had megaloblastic anemia. Conclusion: The unusual clinical manifestations of vitamin B12 deficiency may also be seen apart from neurological and hematological findings. Nutritional vitamin B12 deficiency due to maternal deficiency might be a serious health problem in infants. Therefore, screening and supplementation of pregnant and lactating women to prevent infantile vitamin B12 deficiency should be considered.

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Clinical and epidemiological characteristics of pediatric patients with positive serology for Mycoplasma pneumoniae, treated in the third level hospital from 2006 to 2008

Colombia Medica ◽

10.25100/cm.v42i2.764 ◽

2011 ◽

pp. 138-143

Author(s):

Margarita María Suárez ◽

Mussatyé Elorza ◽

Jorge Hernando Donado ◽

Luis Alfredo Londoño ◽

David Andrés Espinal

Keyword(s):

Mycoplasma Pneumoniae ◽

Clinical Laboratory ◽

Acute Infection ◽

Clinical Manifestations ◽

Clinical Findings ◽

Positive Serology ◽

Treatment Characteristics ◽

The Central Nervous System ◽

Epidemiological Characteristics ◽

Level Hospital

Introduction: Infection by Mycoplasma pneumoniae is becoming more frequent at younger ages. It appears as a generally benign and unspecific clinical condition of respiratory symptoms and sometimes responsible for a broad spectrum of extrapulmonary manifestations. Objective: To describe demographic, clinical, laboratory, and treatment characteristics of pediatric-age patients with positive serology for M. pneumoniae diagnosed at the Pablo Tobón Uribe Hospital (HPTU) during the 2006-2008 period. Materials and methods: Observational, retrospective study, which describes the demographic, clinical, laboratory, and treatment characteristics of patients from 1 month to 14 years of age with positive IgM for M. pneumoniae seen at HPTU during September 2006 and November 2008. Results: We reviewed 305 clinical charts of patients with positive IgM for M. pneumoniae. The average age was 5.15 years ± 3.62 SD. Cough (87.5%), fever (65.9%), rhinorrea (39.3%), and respiratory difficulty (38%) were the most frequent clinical findings. Extrapulmonary compromise was mainly manifested in the skin (12.8%), the central nervous system (CNS) (3.6%), and osteomuscular system (3.9%). Auscultation and thoracic X-ray were normal in 33.1% and 30.8% of the patients, respectively. Episodes of asthma exacerbation were related to infection by Mycoplasma in 35% of the cases. A total of 51% of the patients required hospitalization with an average stay of seven days. All the patients received antibiotic treatment; clarithromycin (75.8%) was the antibiotic of choice. Conclusion: Infection by M. pneumoniae has a broad range of clinical manifestations, requiring a high index of clinical suspicion and an active search for extrapulmonary compromise given that in our realm there is no specific diagnostic method for the acute infection.

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Neurological findings of a series of patients with chromosome 18 trisomy (Edwards syndrome) in mosaic

10.5327/1516-3180.074 ◽

2021 ◽

Author(s):

Bruno Custódio Silva ◽

Hugo Roberto Sampaio Martins ◽

Thais Vanessa Salvador ◽

Guilherme Parmigiani Bobsin ◽

Paulo Ricardo Gazzola Zen ◽

...

Keyword(s):

Clinical Presentation ◽

Clinical Manifestations ◽

Clinical Findings ◽

Neurological Symptoms ◽

Clinical Genetics ◽

Chromosome 18 ◽

Older Patient ◽

Internal Organs ◽

Edwards Syndrome ◽

History Of

Introduction: Chromosome 18 trisomy or Edwards syndrome (ED) is characterized by wide clinical manifestations, usually associated with neurological symptoms and a poor prognosis. Objective, materials and methods: Describe the clinical findings, especially the neurological ones, of a sample of patients with mosaic chromosome 18 trisomy. These were evaluated at a Clinical Genetics Service from 1975 to 2008. Results: During the study, 50 patients with ED were diagnosed, 5 of them (10%) in mosaic. The average number of cells analyzed in these cases was 27,8. Three of the 5 patients (60%) were male. The age at evaluation ranged from 14 to 5926 days (median 93 days). The small number of clinical findings described was noteworthy, both in the dysmorphological evaluation and complementary exams. The main changes were micrognathia (n = 3), low ears implanted (n = 2), retroverted ears (n = 3), clenched fists with overlapping toes (n = 2) and clubfoot (n = 1). As for internal organs, congenital heart disease was reported in 2 cases (40%). All patients had a history of delayed neuropsychomotor development. The older patient also had a description of cognitive impairment and seizures. Conclusions: The clinical presentation of our patients is consistent with what is described in the literature, since they point out due to small number of changes. However, the delay in neuropsychomotor development and neurological symptoms are constant findings. Thus, pediatricians and neurologists should be aware of this possibility.

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Approach to Hemophagocytic Syndromes

Hematology ◽

10.1182/asheducation-2011.1.178 ◽

2011 ◽

Vol 2011 (1) ◽

pp. 178-183 ◽

Cited By ~ 93

Author(s):

Sheila Weitzman

Keyword(s):

Secretory Pathway ◽

Clinical Presentation ◽

Clinical Manifestations ◽

Clinical Findings ◽

Clinical Feature ◽

Target Cells ◽

Genetic Condition ◽

Metabolic Conditions ◽

Common Problems ◽

Host Tissues

AbstractHemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory condition. It may occur as a primary (genetic) condition due to mutations in genes important in the cytolytic secretory pathway that cause perforin and granzymes to induce apoptosis in target cells. Primary HLH is divided into familial HLH (FHLH1-5), in which HLH is the only manifestation of disease, and other genetic causes in which HLH is one of several clinical manifestations. The identical clinical findings may arise secondary to infectious, rheumatologic, malignant, or metabolic conditions. Whether primary or secondary, HLH therapy needs to be instituted promptly to prevent irreversible tissue damage. It is helpful to think of HLH as the severe end of the spectrum of hyperinflammatory disorders when the immune system starts to damage host tissues (immunopathology). Therefore, no single clinical feature alone is diagnostic for HLH, and it is important that the entire clinical presentation be considered in making the diagnosis. This article contains a discussion of the genetic background, clinical presentation, diagnostic dilemmas, and features that are helpful in making the diagnosis of HLH, along with a discussion of common problems in its management.

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Clinical presentation of flu coinfections in children

Russian Medical Inquiry ◽

10.32364/2587-6821-2020-4-11-665-669 ◽

2020 ◽

Vol 4 (11) ◽

pp. 665-669

Author(s):

S.V. Nikolaeva ◽

◽

D.V. Usenko ◽

S.V. Shabalina ◽

Yu.N. Khlypovka ◽

...

Keyword(s):

Hospital Admission ◽

Clinical Presentation ◽

Clinical Laboratory ◽

Respiratory Infections ◽

Clinical Manifestations ◽

Infusion Therapy ◽

Acute Respiratory Infections ◽

Group 2 ◽

Syncytial Virus ◽

Group 1

Aim: to identify the clinical laboratory features of coinfection with flu and other respiratory viral infections. Patients and Methods: case records (inpatient files) of 139 children aged 2 months — 18 years who were admitted to Moscow hospitals from October 2017 to February 2020 with the clinical manifestations of acute respiratory infections (ARI) were analyzed. All children were divided into two groups. Group 1 included children with coexisted flu and other ARI (n=31). Group 2 included children with flu alone (n=108). The etiology of ARI was discovered by polymerase chain reaction (oral or nasal smears and/or discharge, sputum) and enzyme immunoassay (antibodies to herpesvirus type 1, 2, and 6, cytomegalovirus, Epstein-Barr virus, Chlamydia, and Mycoplasma). Results: respiratory syncytial virus and rhinovirus were the most common viruses coexisted with flu (8/31 and 5/31, respectively). The onset of ARI occurred 2.60±1.6 days before hospital admission in group 1 and 3.35±1.72 days before hospital admission in group 2 (p>0.05). In group 1, febrile temperature lasted for 4.72±1.25 days that is almost 2 days longer than in group 2 (p<0.01). The rate of complications in coinfection with flu and ARI vs. flu alone was different, i.e., acute (catarrhal, medium) otitis was diagnosed in 35.5% and 8.3.% (p<0.01), respectively, acute sinusitis in 12.9% and 8.3%, respectively, and pneumonia in 22.6% and 7.4%, respectively. Conclusion: in children, coinfection with flu and other respiratory virus is generally more severe as demonstrated by higher temperature, more severe intoxication symptoms, more common complications (e.g., otitis, sinusitis, pneumonia etc.), and a greater need in infusion therapy. Co-infected children are admitted to hospital more rapidly and stay in hospital for a longer period. KEYWORDS: acute respiratory infections, flu, rhinovirus, children, fever, intoxication, severity. FOR CITATION: Nikolaeva S.V., Usenko D.V., Shabalina S.V. et al. Clinical presentation of flu coinfections in children. Russian Medical Inquiry. 2020;4(11):665–669. DOI: 10.32364/2587-6821-2020-4-11-665-669.

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Clinical presentation of different severities of hemorrhagic fever with renal syndrome: How to recognize it

Vojnosanitetski pregled ◽

10.2298/vsp1207604l ◽

2012 ◽

Vol 69 (7) ◽

pp. 604-609

Author(s):

Mirjana Lausevic ◽

Zeljko Lausevic ◽

Biljana Stojimirovic

Keyword(s):

Disease Severity ◽

Clinical Presentation ◽

Clinical Laboratory ◽

Hemorrhagic Fever ◽

Clinical Findings ◽

Severe Form ◽

Careful Consideration ◽

Phosphorus Concentration ◽

Radiographic Findings ◽

Severe Clinical Picture

Background/Aim. Besides viral serotype, HLA haplotype and cytokine genes polymorphism are associated with clinical presentation of hemorrhagic fever with renal syndrome. Since these analyses are unavailable in routine clinical practice, the aim of this study was to assess clinical, laboratory and radiographic findings associated with clinical presentation of disease severity. Methods. A total of 30 patients (27 men and 3 women), average age 40 ? 14.9 years, treated for hemorrhagic fever with renal syndrome from January 1, 1999 to December 31, 2009 in Clinical Center of Serbia, were included in the study. Nine patients (30%) had mild, 14 (46.7%) moderate and 7 (23.3%) severe form of the disease; 24 (80%) recovered, 6 (20%) died in the acute phase of the illness, and 19 patients (63.3%) required hemodialysis. Results. The average titer of antiviral antibodies in patients infected with Belgrade serotype virus were significantly higher in those with severe clinical presentation. Hypotension, anuria, macrohaematuria, pulmonary infiltration, pleural effusion, hepatomegalia and positive meningeal signs were more frequent in the patients with severe form of the disease. Statistically significant differences between groups with mild, moderate and severe clinical picture were found in serum total protein, albumin, calcium, glutamate pyruvate and glutamate oxaloacetate transaminase on admittance; serum creatinine and phosphorus concentration on day 14 and day 21; serum sodium and calciums on day 14; hemoglobine concentration on day 21. A statistically significant correlation was found between clinical presentation of the disease severity and platelet count, white blood cell count, hemoglobine concentration, serum calcium and serum transaminases on admittance. Multivariate analysis identified variables` combinations associated with clinical presentation of the disease. Conclusion. Our study confirmed that we can distinguish patients who will manifest different severities of the disease on the basis of careful consideration of laboratory and clinical findings on admission.

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P.030 Clinical findings, immunotherapy and neuroimaging results in Pediatric Anti-NMDA Receptor Encephalitis

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/cjn.2018.132 ◽

2018 ◽

Vol 45 (s2) ◽

pp. S24-S24

Author(s):

R Ogilvie ◽

F Morneau-Jacob

Keyword(s):

Pediatric Patients ◽

Clinical Presentation ◽

Clinical Manifestations ◽

Clinical Findings ◽

Psychiatric Disturbance ◽

Nmda Receptor Encephalitis ◽

Nmdar Encephalitis ◽

Positron Emission ◽

Cerebral Mri ◽

Pet Scans

Background: Anti-NMDAR Encephalitis is an autoimmune disease of children and adults which most often presents with sub-acute psychiatric disturbance or seizures, but includes a broad group of potential clinical manifestations. Routine neuroimaging, such as cerebral MRI, is often nonspecific or normal. Methods: This study reports a series of retrospectively reviewed pediatric patients with AntiNMDAR encephalitis with emphasis on the evolution of clinical features over time, cerebral MRI, 18-FDG Positron emission tomography (PET) findings, and post illness neurocognitive features. Results: Four cases of Antibody confirmed AntiNMDAR encephalitis were included, two male and two female, of a mean of 13 years of age. Patients had a mean of three symptom categories by presentation, though many of these were subtle, progressing to 6.5 by the end of the first month. MRI, CSF and EEG were abnormal for one, three and all patients, respectively. All patients had abnormal cerebral PET scans, and all displayed some temporal lobe hypermetabolism on either initial or repeat cerebral PET Scan. Conclusions: Anti-NMDAR encephalitis is a variable disorder with an evolving clinical presentation in children. Temporal hypermetabolism on cerebral PET may be a time dependent feature of the disorder.

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Computer-Aided Diagnosis in Jaundice: Comparison of Knowledge-based and Probabilistic Approaches

Methods of Information in Medicine ◽

10.1055/s-0038-1634634 ◽

1996 ◽

Vol 35 (01) ◽

pp. 41-51 ◽

Cited By ~ 3

Author(s):

F. Molino ◽

D. Furia ◽

F. Bar ◽

S. Battista ◽

N. Cappello ◽

...

Keyword(s):

Clinical Presentation ◽

Clinical Information ◽

Diagnostic Value ◽

Clinical Findings ◽

Clinical Documentation ◽

Data Set ◽

Knowledge Based ◽

Number Of Patients ◽

Support Tools ◽

Aided Diagnosis

AbstractThe study reported in this paper is aimed at evaluating the effectiveness of a knowledge-based expert system (ICTERUS) in diagnosing jaundiced patients, compared with a statistical system based on probabilistic concepts (TRIAL). The performances of both systems have been evaluated using the same set of data in the same number of patients. Both systems are spin-off products of the European project Euricterus, an EC-COMACBME Project designed to document the occurrence and diagnostic value of clinical findings in the clinical presentation of jaundice in Europe, and have been developed as decision-making tools for the identification of the cause of jaundice based only on clinical information and routine investigations. Two groups of jaundiced patients were studied, including 500 (retrospective sample) and 100 (prospective sample) subjects, respectively. All patients were independently submitted to both decision-support tools. The input of both systems was the data set agreed within the Euricterus Project. The performances of both systems were evaluated with respect to the reference diagnoses provided by experts on the basis of the full clinical documentation. Results indicate that both systems are clinically reliable, although the diagnostic prediction provided by the knowledge-based approach is slightly better.

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THE CLINICAL, LABORATORY MANIFESTATIONS AND HISTOPATHOLOGY IN NEPHROTIC PATIENTS WITH LUPUS NEPHRITIS

Journal of Medicine and Pharmacy ◽

10.34071/jmp.2018.2.9 ◽

2018 ◽

pp. 52-58

Author(s):

Le Thuan Nguyen ◽

Bui Bao Hoang

Keyword(s):

Systemic Lupus Erythematosus ◽

Lupus Nephritis ◽

Lupus Erythematosus ◽

Clinical Laboratory ◽

Activity Index ◽

Clinical Manifestations ◽

Systemic Lupus ◽

Cross Sectional ◽

Organ Systems ◽

Tubulointerstitial Lesions

Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disease involving multiple organ systems. The kidney appears to be the most commonly affected organ, especially nephrotic is a serious kidney injury. The clinical, laboratory manifestations and histopathology are very useful for diagnosis, provide the means of predicting prognosis and guiding therapy in nephrotic patients with lupus nephritis. Methods: Descriptive cross-sectional study of nephrotic patients with lupus treated in the Department of Nephrology Trung Vuong Hospital and Cho Ray Hospital between May/2014 and May/2017. Renal histopathological lesions were classified according to International Society of Nephrology/Renal Pathology Society - ISN/RPS ’s 2003. The clinical, laboratory manifestations and histopathological features were described. Results: Of 32 LN with nephritic range proteinuria cases studied, 93.7% were women. The 3 most common clinical manifestations were edema (93.8%), hypertension (96.8%) and pallor (68.9%), musculoskeletal manifestions (46.9%), malar rash (40.6%). There was significant rise in laboratory and immunological manifestions with hematuria (78.1%), Hb < 12g/dL (93.5%), increased Cholesterol (100%), and Triglycerid (87.5%), Creatinine > 1.4 mg/dL (87.5%), increased BUN 71.9%, ANA (+) 93.8%, Anti Ds DNA(+) 96.9%, low C3: 96.9%, low C4: 84.4%. The most various and severe features were noted in class IV with active tubulointerstitial lesions and high activity index. Conclusion: Lupus nephritis with nephrotic range proteinuria has the more severity of histopathological feature and the more severity of the more systemic organ involvements and laboratory disorders were noted. Key words: Systemic lupus, erythematosus (SLE) lupus nepphritis, clinical

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Influence of the Acetylation Type on the Incidence of Isoniazid-Induced Hepatotoxicity in Patients with Newly Diagnosed Pulmonary Tuberculosis

Antibiotics and Chemotherapy ◽

10.37489/0235-2990-2020-65-7-8-31-36 ◽

2020 ◽

Vol 65 (7-8) ◽

pp. 31-36

Author(s):

N. M. Krasnova ◽

N. E. Evdokimova ◽

A. A. Egorova ◽

O. I. Filippova ◽

E. A. Alekseeva ◽

...

Keyword(s):

Pulmonary Tuberculosis ◽

Clinical Laboratory ◽

Clinical Manifestations ◽

Normal Activity ◽

Slow Acetylators ◽

Nucleotide Polymorphisms ◽

Newly Diagnosed ◽

Single Nucleotide ◽

Tuberculosis Chemotherapy ◽

Genetically Determined

Introduction. Liver damage can be a dangerous side effect of using isoniazid. Individual susceptibility to isoniazid in humans is dependent on the presence of N-acetyltransferase 2 allelic variants in genome. It was imperative to assess the effect of genetically determined isoniazid acetylation rate in terms of risk of developing isoniazid-induced hepatotoxicity, as well as prevention of potential hepatopathy, and improvement of tuberculosis chemotherapy safety. Aim. To study the effect of acetylation type on the incidence of isoniazid hepatotoxicity in residents of the Sakha Republic (Yakutia) with newly diagnosed pulmonary tuberculosis. Methods. The study included 112 patients with newly diagnosed pulmonary tuberculosis. Genotyping was performed using real-time polymerase chain reaction. The following single nucleotide polymorphisms were studied: rs1801280, rs1799930, rs1799931, rs1799929, rs1208, rs1041983. Hepatotoxicity was determined based on the results of clinical laboratory monitoring and using the criteria developed by the European Association for the Study of the Liver (2019). Results. Hepatotoxic reactions developed more often in slow acetylators (43.2%), compared to fast acetylators (20.7%) and intermediate acetylators (10.9%); p=0.002. Serum alanine aminotransferase activity was 5 or more times above the upper limit of normal activity in 37.8% of slow acetylators, and in 8.7% of intermediate acetylators; p=0.001. Clinical manifestations of isoniazid hepatotoxicity were observed more often in slow acetylators (29.7%), than in fast acetylators (3.4%); p=0.000. Conclusion. Slow acetylation type ought to be considered an important risk factor for developing isoniazid hepatotoxicity in patients with pulmonary tuberculosis.

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