scholarly journals Clinical Spectrum of Propionic Acidaemia

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Muhammad Rafique
Keyword(s):  
Clinical Features ◽  
Respiratory Diseases ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Cerebral Atrophy ◽  
Propionic Acidaemia ◽  
Ratio Analysis ◽  
Laboratory Parameters ◽  
Physical Findings

Objectives. To evaluate the clinical features, physical findings, diagnosis, and laboratory parameters of the patients with propionic acidaemia (PA).Methods. The records of diagnosed cases of propionic acidaemia were reviewed, retrospectively.Results. Twenty-six patients with PA had 133 admissions. The majority (85%) of the patients exhibited clinical manifestations in the 1st week of life. Regarding clinical features, lethargy, fever, poor feeding, vomiting, dehydration, muscular hypotonia, respiratory symptoms, encephalopathy, disturbance of tone and reflexes, and malnutrition were observed in 51–92% admissions. Metabolic crises, respiratory diseases, hyperammonaemia, metabolic acidosis, hypoalbuminaemia, and hypocalcaemia were observed in 30–96% admissions. Pancytopenia, ketonuria, hypoproteinemia, hypoglycaemia, and mildly disturbed liver enzymes were found in 12–41% admissions. Generalised brain oedema was detected in 17% and cerebral atrophy in 25% admissions. Gender-wise odd ratio analysis showed value of 1.9 for lethargy, 1.99 for respiratory diseases, 0.55 for anaemia, and 1.82 for hypocalcaemia.Conclusion. Propionic acidaemia usually presents with wide spectrum of clinical features and disturbances of laboratory parameters in early neonatal age. It is associated with significant complications which deteriorate the patients’ quality of life. Perhaps with early diagnosis of the disease and in time intervention, these may be preventable.

scholarly journals Cardiopulmonary syndrome and adrenoreactivity of an organism

2016 ◽  
Vol 97 (6) ◽  
pp. 864-869 ◽  
Author(s):  
V M Gazizyanova ◽  
O V Bulashova ◽  
A A Nasybullina ◽  
Z A Shaykhutdinova ◽  
A A Podol’skaya
Keyword(s):  
Heart Failure ◽  
Chronic Obstructive Pulmonary Disease ◽  
Pulmonary Disease ◽  
Clinical Features ◽  
Clinical Manifestations ◽  
Chronic Obstructive ◽  
Obstructive Pulmonary Disease ◽  
Heart Failure Patients ◽  
Increased Activity

Aim. To study β-adrenoreactivity of the cell membrane in patients with different variants of heart failure in association with chronic obstructive pulmonary disease.Methods. 120 heart failure patients including 68 of them who suffer from concominant chronic obstructive pulmonary disease were evaluated. Assessment of clinical features of heart failure, patients’ quality of life and study of β-adrenoreactivity were performed.Results. Adrenoreactivity of an organism in heart failure and concominant chronic obstructive pulmonary disease was 2 times higher and was 55.4±18.8 U and in heart failure only it was 29.4±8.5 U. Intensification of β-adrenoreactivity was found to be proportional to worsening of clinical features of chronic heart failure in all patients that was more prominent in patients with pulmonary disease. Responders with heart failure in association with chronic obstructive pulmonary disease had higher values of β-adrenoreactivity of cell membranes more frequently.Conclusion. The results of our investigation confirm increased activity of sympathetic system in heart failure and concominant chronic obstructive pulmonary disease that worsens clinical manifestations of heart failure.

scholarly journals Burden of drug induced allergic reactions: a 3-year experience in a tertiary care hospital

2020 ◽  
Vol 9 (1) ◽  
pp. 200
Author(s):  
Shatavisa Mukherjee ◽  
Santanu Kumar Tripathi
Keyword(s):  
Quality Of Life ◽  
Wide Spectrum ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Allergic Reactions ◽  
Care Hospital ◽  
Drug Induced ◽  
Patient Counselling ◽  
Severity Grading

Background: DIARs includes a wide spectrum of immunologically-mediated hypersensitivity reactions with varied mechanisms and clinical manifestations. Besides affecting a patient’s quality of life, it may also lead to increased treatment cost and length of hospitalization. The present study aims to provide an overview of drug induced allergic reactions experienced in a tertiary care set-up.Methods: A prospective observational outcome research was conducted over a 3-year period on patients encountering drug induced allergic reactions, who has been analysed for their spectrum of presentation, clinical outcomes (including severity, management and outcome of reaction), economic outcomes (including cost of treatment) and humanistic outcomes (including assessment of quality of life).Results: Drug induced allergic reactions accounts for 2.71% of total hospitalization in this study period. While majority reactions were moderate in severity grading, most were preventable. Direct cost of treating such preventable reactions were much higher along with increased indirect cost (due to prolonged hospitalization) adding to economic burden. Quality of life in patients encountering such reactions was also compromised as assessed using EQ-VAS.Conclusions: Prompt identification, consultation, cessation of culprit drug, management and patient counselling can act as strategies to minimize the burden of these reactions on society and healthcare system at large.

scholarly journals Nosological Dilemma and Clinical Polymorphism of the Catatonia Phenomenon

Psychiatry ◽  
2020 ◽  
Vol 18 (2) ◽  
pp. 61-70
Author(s):  
P. O. Borisova
Keyword(s):  
Clinical Features ◽  
Affective Disorders ◽  
Selection Criteria ◽  
Scientific Literature ◽  
Clinical Manifestations ◽  
Underlying Disease ◽  
Cochrane Library ◽  
Distinctive Features ◽  
Somatic Diseases

Objective: to provide the description of researchers’ views evolution and provide the review of modern scientific literature on nosological affiliation and clinical features of catatonia. Material and methods: Scopus, PubMed, Cochrane Library, eLIBRARY databases were searched for literature (44 000 papers) using the keyword ‘catatonia‘. Based on the selection criteria, the search has been found the clinical cases, cohort and random studies, dedicated to psychopathologic description of catatonia, accompanied by affective disorders, autism and hysteria. 50 papers issued between 2000 and 2020 were selected for the analysis. Conclusions: catatonia, traditionally treated as a symptom of schizophrenia, currently is predominantly interpreted as a “transnosological syndrome”, which accompanies various (both mental and somatic) diseases. The clinical manifestations of catatonia in affective disorders, autism and hysteria have their own distinctive features, also the presence of catatonic symptoms is associated with a greater severity of the underlying disease, low quality of remissions, which explains why the experts are wary of the endogenic factors.

scholarly journals Association of clinical features, comorbidities and laboratory profile with outcomes among dengue patients admitted in a tertiary care hospital, Delhi NCR

2021 ◽  
Vol 9 (7) ◽  
pp. 1918
Author(s):  
Mohit Tiwari ◽  
Abhishek Tibrewal ◽  
Varun S. Pichika ◽  
Narinder P. Singh ◽  
Pankaj N. Choudhary ◽  
...  
Keyword(s):  
Blood Transfusion ◽  
Clinical Features ◽  
Tertiary Care Hospital ◽  
Wide Spectrum ◽  
Dengue Infection ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Chronic Obstructive ◽  
Care Hospital ◽  
Laboratory Profile

Background: Dengue fever is an endemic disease across multiple countries. Dengue infection results in a wide spectrum of non-specific clinical manifestations with unpredictable clinical course and outcome. Objective of the study was to understand the association of different clinical features, comorbidities and laboratory profile with outcomes (ICU use, ventilation use and blood transfusion) among dengue patients admitted in a tertiary care hospital in Delhi, National Capital Region.Methods This cross-sectional study included 75 dengue patients with fever <1 week confirmed based on NS-1 antigen and/or IgM antibody positivity. Descriptive analysis was used.Results: Gender was not significantly associated with the outcomes. The duration of fever was significantly higher among those with ICU use (median: 6 versus 4 days; p=0.005), ventilator use (median: 5.5 versus 4.0 days; p=0.049] and blood transfusion (median: 6 versus 4 days; p=0.013). Dengue patients with co-morbidities (diabetes, hypertension, or chronic obstructive pulmonary disease) or co-infection had a significantly higher odds of the outcomes. The platelet level was significantly lower while liver enzymes were significantly higher among those with the outcomes.Conclusions: The clinical features, comorbidities and laboratory profile can help in identifying critical patients for ICU admission and timely intervention to improve outcome.

Some Clinical Manifestations and Laboratory Findings of Human Gigantica Fascioliasis in Pregnant Women and Children in Central-Coastal Provinces, Vietnam, 2003-2017

2019 ◽  
Vol 4 (3) ◽  
Keyword(s):  
Pregnant Women ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Fasciola Gigantica ◽  
World Health ◽  
Laboratory Findings ◽  
Laboratory Parameters ◽  
Women And Children

Introduction: Fascioliasis is a disease of the hepatobiliary system, caused by Fasciola spp that are increasing and threating of public health in the tropic areas, including of Central coastal of Vietnam. World Health Organisation estimates that at least 2.4 million people are infected in more than 70 countries worldwide, with several million at risk, and particularly, no continent is free from fascioliasis. This study carried out to evaluate several typical clinical and paracinical aspects in the pregnant women and children groups with fascioliasis. Methods: With the descriptive cross-sectional study design, and sample size in line with hospital based data. Results: the data post-analysis showed that total of 94 pregnant women and 212 child with gigantica fascioliasis were enrolled:- In the pregnant women group: the major clinical symptoms of epigastric and Chauffard Rivet triangle pain (95.74%), subshoulder muscle pain (97.87%), gastrointestinal disturbances as abdominal pain plus constipation (14.89%), loosed stool (22.34%), nausea and/or vomit (29.78%), mild fever (68%), allergic reaction with pruritis and urticaria (64.89%), mild anemia (4.26%), rare symptoms may be hepatomegaly (6.38%), chest pain, dyspnoea (43.62%), jaundice (2.13%); Laboratory parameters were positive ELISA test with Fasciola gigantica antigen (95.74%), hepatobiliary lesions by ultrasound (97.87%), majority in right liver (90.32%), eosinophilia is the predominant indicator (90.42%), In the children group: the clinical manifestations included of epigastric and Chauffard-Rivet area pain (94.34%), flatuence, nausea and intermittent vomiting (76.41%), digestive disoders (40.57%), allergy (30.66%), fatigue plus weight loss (12.74%); laboratory findings included of hepatobiliary lesions by US (100%), positive ELISA with Fasciola gigantica antigen (96.70%), eosinophil of 93.39% and 1.90% positive copro-examination with Fasciolae eggs. Conclusions: In pregnant women, symptoms are indistinguishable from hepatobiliary, digestive tract diseases or overlap with gestation terrains, and clinical signs of paediatric fascioliasis may mimic a wide spectrum of hepatobiliary disorders laboratory parameters and imaging diagnostics, especially in FasELISA, hypereosinophilia and liver lesions by ultrasound were very useful in positive diagnosis.

Dengue fever in infants: report of three cases

2016 ◽  
Vol 47 (2) ◽  
pp. 173-176
Author(s):  
Sumit Mehndiratta ◽  
Ritika Singhal ◽  
Krishnan Rajeshwari ◽  
Anand P Dubey
Keyword(s):  
Young Adults ◽  
Dengue Fever ◽  
Clinical Features ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Clinical Suspicion ◽  
Diagnostic Methods ◽  
Children And Young Adults ◽  
High Degree

Dengue fever has classically been described as a disease of children and young adults. Infants are naturally protected by virtue of maternally derived immunoglobulins, especially in endemic countries. The resurgence of dengue, coupled with the availability of early and sensitive diagnostic methods and a high degree of clinical suspicion, has led to an increasing number of infants being diagnosed. There is a wide spectrum of clinical manifestations, particularly in infancy. Here we describe three cases presenting with diverse clinical features, their subsequent management and outcome.

scholarly journals A Study of Clinico-pathological Profile of Suspected and Confirmed Neonatal Sepsis at Kathmandu Medical College

2020 ◽  
Vol 22 (1-2) ◽  
pp. 82-87
Author(s):  
Anup Shrestha ◽  
S Shrestha
Keyword(s):  
Blood Culture ◽  
Clinical Features ◽  
Neonatal Sepsis ◽  
Clinical Manifestations ◽  
P Value ◽  
Biochemical Tests ◽  
Suspected Sepsis ◽  
Laboratory Parameters ◽  
Abnormal Laboratory ◽  
Medical College

Neonatal sepsis is a common reason for neonatal morbidity and mortality. Only clinical manifestations are inadequate to diagnose neonatal sepsis. In context of Nepal, there has been few studies correlating bacterial and clinical profile but none till now has managed to define the most adequate parameters to diagnose neonatal sepsis with certainty. Hence, this study is conducted to describe and compare clinical and laboratory characteristics of culture positive and clinically suspected sepsis (blood culture negative) and then assess whether differences exist between them. A descriptive prospective study was carried out for a period of one year starting from April 2017 to March 2018 at the NICU of Kathmandu Medical College. A total of 129 culture proven and suspected septic neonates were included. Clinical features, septic screening including blood culture, biochemical tests and radiological findings were taken into consideration. The incidence of definite neonatal sepsis was 22.4%. The most common bacterial isolates were gram negative bacteria. Klebsiella spp (48%) followed by CoNS (17%), Acinetobacter spp (14%), Enterobacter spp (7%), Pseudomonas (7%) and Staphylococcus aureus (7%) were isolated. Different non specific clinical features like respiratory and gastro-intestinal symptoms were seen. The neonates with clinical features had positive correlation with abnormal laboratory parameters with statistically significant p value, suggesting that septic neonates showed abnormal laboratory parameters. This data emphasizes the role of laboratory parameters other than blood culture for the diagnosis and empirical treatment of neonatal sepsis.

scholarly journals SOME FEATURES OF THE RELATIONSHIP OF CLINICAL MANIFESTATIONS AND DENTAL INDICATORS OF LIFE QUALITY IN PATIENTS WITH REFRACTIVE ORAL CAVITIES AFTER ACID-RESPECT TERRITORY

2020 ◽  
Vol 16 (1) ◽  
pp. 22-29
Author(s):  
Irina Galimova ◽  
Irina Usmanova ◽  
Larisa Gerasimova ◽  
Zuhra Hismatullina ◽  
Yigal Granot ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Gastrointestinal Tract ◽  
Oral Cavity ◽  
Mucous Membrane ◽  
Clinical Features ◽  
Clinical Manifestations ◽  
Dental Examination ◽  
Relationship Of ◽  
The Relationship

Subject. The results of a comprehensive clinical examination of patients with acid-dependent diseases of the gastrointestinal tract, including an assessment of some features of the clinical manifestations of recurrent aphthalmic afta and dental quality of life parameters, are examined. The goal is to assess the relationship of the clinical manifestations of recurring aphthae of the oral cavity and the dental quality of life in patients with acid-dependent diseases of the gastrointestinal tract. Methodology. A general clinical and dental examination of 125 young people with recurrent aphthae of the oral cavity against acid-dependent diseases of the gastrointestinal tract was performed. The questionnaire method was used to assess the quality of life of the studied groups of patients depending on the nosology and clinical features of the pathology of the oral mucosa. Results. The percentage of patients with recurrent oral aphthae at the time of the clinical dental examination averaged 46.4 % of cases, with acid-dependent gastrointestinal diseases - 33.6%, the number of relapses averaged 2.57 ± 0.23 times a year. Among triggers of recurrent aphthae of the oral cavity, patients at the time of the clinical examination identified the influence of stressful situations (100 %), chronic diseases of the gastrointestinal tract (80 %), and mucosal injuries (33.6 %). Conclusions. The most frequent triggering factors that provoke the clinical features of recurrent aphthae of the oral cavity are some acid-dependent diseases of the gastrointestinal tract in the form of chronic gastritis and duodenitis and chronic pancreatitis against the background of hyperacid secretion of the stomach, and the mucous membrane is a favorite localization of morphological elements (aphthae) in the area of mesial incisors of the front teeth of the upper or lower jaw, the mucous membrane of the upper or lower lip, mucus melting the side surface of the tongue and the buccal mucosa in premolars.

scholarly journals X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers

2012 ◽  
Vol 70 (7) ◽  
pp. 487-491 ◽  
Author(s):  
Charles Marques Lourenço ◽  
Gustavo Novelino Simão ◽  
Antonio Carlos Santos ◽  
Wilson Marques Jr
Keyword(s):  
Family History ◽  
Clinical Features ◽  
Wide Spectrum ◽  
Phenotypic Variability ◽  
Clinical Manifestations ◽  
Spastic Paraplegia ◽  
Heterozygous Female ◽  
Female Patients ◽  
History Of ◽  
Female Carriers

X-linked adrenoleukodystrophy (X-ALD) is a recessive X-linked disorder associated with marked phenotypic variability. Female carriers are commonly thought to be normal or only mildly affected, but their disease still needs to be better described and systematized. OBJECTIVES: To review and systematize the clinical features of heterozygous women followed in a Neurogenetics Clinic. METHODS: We reviewed the clinical, biochemical, and neuroradiological data of all women known to have X-ADL. RESULTS: The nine women identified were classified into three groups: with severe and aggressive diseases; with slowly progressive, spastic paraplegia; and with mildly decreased vibratory sensation, brisk reflexes, and no complaints. Many of these women did not have a known family history of X-ALD. CONCLUSIONS: Heterozygous women with X-ADL have a wide spectrum of clinical manifestations, ranging from mild to severe phenotypes.

Clinical case of lung lesions in patient with newly diagnosed systemic lupus erythematosus

2019 ◽  
Vol 1 (9) ◽  
pp. 53-57
Author(s):  
T. N. Gavva ◽  
L. V. Kuzmenkova ◽  
Yu. N. Fedulaev ◽  
T. V. Pinchuk ◽  
D. D. Kaminer ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Clinical Case ◽  
Clinical Manifestations ◽  
Lung Damage ◽  
Newly Diagnosed ◽  
Systemic Lupus ◽  
Lung Lesions ◽  
Laboratory Parameters ◽  
Clinical Interest

A case of lung damage in systemic lupus erythematosus (SLE) in a 33-year-old woman is described. This case is of clinical interest due to the complexity of diagnosis due to the fact that SLE is a disease with diverse clinical manifestations involving many organs and systems, which often makes it difficult to timely recognize the onset of the disease. SLE still remains a challenge and requires special attention to the patient s history, clinical and laboratory parameters of the patient, as well as specific immunological examinations.

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