LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 5 of total 5

Search options

  1. Article ; Online: ATP7B Mutation Analysis: Wilson Disease, A Difficult to Diagnose Case.

    Hashmi, Muhammad Almas / Zubaida, Bibi / Asghar, Rai Muhammad / Lodhi, Munir Akmal

    Journal of the College of Physicians and Surgeons--Pakistan : JCPSP

    2020  Volume 30, Issue 4, Page(s) 433–434

    Abstract: Wilson's Disease (WD) is a common metabolic disorder predominantly involving liver, brain, and eyes. Pancreatic, renal, psychiatric, and cardiac involvement have also been described. No single investigation can be considered diagnostic of WD; therefore, ... ...

    Abstract Wilson's Disease (WD) is a common metabolic disorder predominantly involving liver, brain, and eyes. Pancreatic, renal, psychiatric, and cardiac involvement have also been described. No single investigation can be considered diagnostic of WD; therefore, diagnosis is based upon a series of tests best interpreted using Wilson disease diagnostic index (WDDI). We present a difficult-to-diagnose, 9-year girl of consanguineous parents, with chronic liver disease and portal hypertension. Initial workup was equivocal with significantly low serum ceruloplasmin, normal urinary copper excretion and absent Kaiyser-Fleischer (KF) rings. Diagnosis was established by ATP7B mutation analysis. The patient was found homozygous for c.3955C>T (p.Arg1319Ter) in exon 19, a rare mutation described in literature, which results in premature truncation of peptide chain. Key Words: ATP7B, Wilson disease, Copper, Mutations, Hepatolenticular degeneration.
    MeSH term(s) Copper ; DNA Mutational Analysis ; Female ; Hepatolenticular Degeneration/diagnosis ; Hepatolenticular Degeneration/genetics ; Humans ; Mutation
    Chemical Substances Copper (789U1901C5)
    Language English
    Publishing date 2020-06-08
    Publishing country Pakistan
    Document type Case Reports
    ZDB-ID 2276646-7
    ISSN 1681-7168 ; 1022-386X
    ISSN (online) 1681-7168
    ISSN 1022-386X
    DOI 10.29271/jcpsp.2020.04.433
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 6532: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Clinical and epidemiological features of pediatric population hospitalized with COVID-19: a multicenter longitudinal study (March 2020-December 2021) from Pakistan.

    Abbas, Qalab / Khalid, Farah / Shahbaz, Fatima Farrukh / Khan, Javeria / Mohsin, Shazia / Gowa, Murtaza Ali / Shaikh, Abdul Sattar / Asghar, Rai Muhammad / Khalid, Javairia / Karim, Sehrish / Jehan, Fyezah / Sadiq, Masood / Rashid, Junaid

    The Lancet regional health. Southeast Asia

    2023  Volume 11, Page(s) 100176

    Abstract: Background: We aimed to explore the epidemiological, clinical, and phenotypic parameters of pediatric patients hospitalized with COVID-19 in Pakistan.: Methods: This longitudinal cohort study was conducted in five tertiary care hospitals in Pakistan ... ...

    Abstract Background: We aimed to explore the epidemiological, clinical, and phenotypic parameters of pediatric patients hospitalized with COVID-19 in Pakistan.
    Methods: This longitudinal cohort study was conducted in five tertiary care hospitals in Pakistan from March 2020 to December 2021. Data on various epidemiological and clinical variables were collected using Case Report Forms (CRFs) adapted from the WHO COVID-19 clinical data platform at baseline and at monthly follow-ups for 3 months.
    Findings: A total of 1090 children were included. The median age was 5 years (Interquartile range 1-10), and the majority presented due to new signs/symptoms associated with COVID-19 (57.8%; n = 631), the most common being general and respiratory symptoms. Comorbidities were present in 417 (38.3%) children. Acute COVID-19 alone was found in 932 (85.5%) children, 81 (7.4%) had multisystem inflammatory syndrome (MIS-C), 77 (7.0%) had overlapping features of acute COVID-19 and MIS-C, and severe disease was found in 775/1086 (71.4%). Steroids were given to 351 (32.2%) patients while 77 (7.1%) children received intravenous immunoglobulins. Intensive care unit (ICU) care was required in 334 (31.6%) patients, and 203 (18.3%) deaths were reported during the study period. The largest spike in cases and mortality was from July to September 2021 when the Delta variant first emerged. During the first and second follow-ups, 37 and 10 children expired respectively, and medical care after discharge was required in 204 (25.4%), 94 (16.6%), and 70 (13.7%) children respectively during each monthly follow-up.
    Interpretation: Our study highlights that acute COVID-19 was the major phenotype associated with high severity and mortality in children in Pakistan in contrast to what has been observed globally.
    Funding: The study was supported by the World Health Organization (WHO), which was involved in the study design but played no role in its analysis, writeup, or publication.
    Language English
    Publishing date 2023-03-03
    Publishing country England
    Document type Journal Article
    ISSN 2772-3682
    ISSN (online) 2772-3682
    DOI 10.1016/j.lansea.2023.100176
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  3. Article ; Online: Magnitude of Rotavirus A and Campylobacter jejuni infections in children with diarrhea in Twin cities of Rawalpindi and Islamabad, Pakistan.

    Sadiq, Asma / Bokhari, Habib / Noreen, Zobia / Asghar, Rai Muhammad / Bostan, Nazish

    BMC infectious diseases

    2019  Volume 19, Issue 1, Page(s) 978

    Abstract: Background: Acute diarrhea is a leading cause of morbidity and mortality in children particularly in developing countries of Asia and Africa. The present study was conducted to detect the two most important pathogens, rotavirus and Campylobacter Jejuni ... ...

    Abstract Background: Acute diarrhea is a leading cause of morbidity and mortality in children particularly in developing countries of Asia and Africa. The present study was conducted to detect the two most important pathogens, rotavirus and Campylobacter Jejuni in children suffering with diarrhea in Rawalpindi and Islamabad, Pakistan in 2014. The clinical and epidemiological aspects of the disease were also investigated.
    Methods: A total of 500 stool samples were collected from children presented with clinical signs and symptoms of acute diarrhea. The samples were initially screened for the presence of rotavirus A (RVA) via ELISA (Enzyme-linked immunosorbent assay) and RT-PCR (Reverse Transcriptase PCR) and then were analysed for C. jejuni by using species specific PCR assay.
    Results: The detection rate of RVA was 26.4% (132/500) while, Campylobacter was detected in 52% (260/500) of samples with C. jejuni accounted for 48.2% (241/500) of all study cases. Co-infection of C. jejuni with RVA was identified in 21.8% of all cases. Children with RVA and C. jejuni co-infection showed a higher probability (p = 0.01) to be dehydrated. A significant association (p = 0.02) was found between C. jejuni positive status and fever in children. The median age of children with both RVA and C. jejuni infection was 6-11 months. The RVA detection rate was high in winter months of the year while, C. jejuni infections were documented high in summer over 1 year study period.
    Conclusions: The overall results have demonstrated the high prevalence of C. jejuni in Rawalpindi, Islamabad, Pakistan in 2014. The results of present study will not only help to calculate disease burden caused by C. jejuni and rotavirus but also will provide critical information to health authorities in planning public health care strategies against these pathogens.
    MeSH term(s) Campylobacter Infections/epidemiology ; Campylobacter Infections/microbiology ; Campylobacter jejuni/classification ; Campylobacter jejuni/genetics ; Campylobacter jejuni/isolation & purification ; Child, Preschool ; Cities ; Coinfection/epidemiology ; Coinfection/microbiology ; Coinfection/virology ; Diarrhea/epidemiology ; Diarrhea/microbiology ; Diarrhea/virology ; Feces/microbiology ; Feces/virology ; Female ; Humans ; Infant ; Male ; Pakistan/epidemiology ; Prevalence ; Rotavirus/classification ; Rotavirus/genetics ; Rotavirus/isolation & purification ; Rotavirus Infections/epidemiology ; Rotavirus Infections/virology
    Language English
    Publishing date 2019-11-21
    Publishing country England
    Document type Journal Article
    ISSN 1471-2334
    ISSN (online) 1471-2334
    DOI 10.1186/s12879-019-4575-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  4. Article ; Online: Diarrheal Versus Non-diarrheal Presentations of Paediatric Celiac Disease.

    Hashmi, Muhammad Almas / Hussain, Tanveer / Masood, Najaf / Asghar, Rai Muhammad

    Journal of the College of Physicians and Surgeons--Pakistan : JCPSP

    2016  Volume 26, Issue 8, Page(s) 662–666

    Abstract: Objective: To compare the frequencies and clinical features of diarrheal versus non-diarrheal presentation of celiac disease (CD).: Study design: Cross-sectional study.: Place and duration of study: Paediatric Department, Benazir Bhutto Hospital, ... ...

    Abstract Objective: To compare the frequencies and clinical features of diarrheal versus non-diarrheal presentation of celiac disease (CD).
    Study design: Cross-sectional study.
    Place and duration of study: Paediatric Department, Benazir Bhutto Hospital, Rawalpindi, from January to December 2013.
    Methodology: Children with celiac disease, newly diagnosed on the basis of tissue transglutaminasel (TTG) and intestinal histopathology, were included in the study by consecutive non-probability sampling. Patients were divided into diarrheal and non-diarrheal groups on the basis of presence or absence of chronic or recurrent diarrhea. Comparison between two groups was done and a p-value < 0.05 was considered significant.
    Results: Total patients were 54 (26 males, 28 females) with mean age of 6.67 ±3.35 years. Chronic diarrhea was present in 31 (57.4%) and absent in 23 (42.6%). Patients in non-diarrheal group were diagnosed at a significantly later age (p=0.038) and had a greater frequency of severe malnutrition (p=0.02). Short stature, anemia, rickets, clubbing and abdominal distension were equally prevalent. There was no significant difference in TTG value and intestinal histopathology among two groups.
    Conclusion: Children with atypical presentation of CD had significant severe malnutrition and higher age at diagnosis than at diarrheal presentation.
    MeSH term(s) Abdominal Pain/etiology ; Adolescent ; Anemia/etiology ; Celiac Disease/complications ; Celiac Disease/diagnosis ; Celiac Disease/epidemiology ; Child ; Child, Preschool ; Cross-Sectional Studies ; Diarrhea/epidemiology ; Diarrhea/etiology ; Diarrhea/pathology ; Female ; Humans ; Immunoglobulin A/blood ; Infant ; Intestinal Mucosa/pathology ; Male ; Malnutrition/complications ; Malnutrition/epidemiology ; Severity of Illness Index ; Sex Factors ; Splenomegaly/etiology ; Transglutaminases/blood ; Transglutaminases/immunology
    Chemical Substances Immunoglobulin A ; Transglutaminases (EC 2.3.2.13)
    Language English
    Publishing date 2016-08
    Publishing country Pakistan
    Document type Comparative Study ; Journal Article
    ZDB-ID 2276646-7
    ISSN 1681-7168 ; 1022-386X
    ISSN (online) 1681-7168
    ISSN 1022-386X
    DOI 2400
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 6532: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article ; Online: Accuracy of Anti-Tissue Transglutaminase IgA Antibody in the Diagnosis of Paediatric Celiac Disease.

    Hashmi, Muhammad Almas / Hussain, Tanveer / Masood, Najaf / Younas, Muhammad / Asghar, Rai Muhammad / Shafi, Muhammad Shoaib

    Journal of the College of Physicians and Surgeons--Pakistan : JCPSP

    2016  Volume 26, Issue 4, Page(s) 263–266

    Abstract: Objective: To determine the accuracy of anti-tissue transglutaminase IgA (TTG) antibody titer in the diagnosis of celiac disease, taking small intestine histopathology as the gold standard.: Study design: Cross-sectional analytical study.: Place ... ...

    Abstract Objective: To determine the accuracy of anti-tissue transglutaminase IgA (TTG) antibody titer in the diagnosis of celiac disease, taking small intestine histopathology as the gold standard.
    Study design: Cross-sectional analytical study.
    Place and duration of study: Department of Paediatrics, Benazir Bhutto Hospital, Rawalpindi, from February to July 2013.
    Methodology: Sixty patients aged 2 - 13 years, admitted in the Paediatric Department of Benazir Bhutto Hospital, Rawalpindi, having at least 3 features from chronic diarrhea, malnutrition, short stature, anemia, abdominal distension and clubbing, were included. Age, gender, weight and height were recorded. Abdominal distension and clubbing were clinically noted. For hemoglobin, blood complete picture was done. For determination of nutritional status and short stature, standard centile charts were used. TTG titer upper GI endoscopy, duodenal biopsy, and histopathology were done in all cases.
    Results: There were 60 patients; 32 males, 28 females with mean age of 5.85 ±3.36 years. Frequency of CD was 63.33% in study population. Sensitivity of TTG was 86.84%, with 81.82% specificity, 89.19% positive predictive value, and 78.26% negative predictive value for diagnosing CD. TTG titre more than 50 iu/ml had a 100% positive predictive value.
    Conclusion: TTG is an excellent screening test for the diagnosis of paediatric CD. TTG value > 50 IU/ml has 100% positive predictive value.
    MeSH term(s) Abdominal Pain/etiology ; Adolescent ; Autoantibodies/analysis ; Autoantibodies/blood ; Biopsy ; Celiac Disease/diagnosis ; Celiac Disease/immunology ; Celiac Disease/pathology ; Child ; Child, Preschool ; Duodenum/pathology ; Endoscopy ; Enzyme-Linked Immunosorbent Assay ; Female ; GTP-Binding Proteins/blood ; GTP-Binding Proteins/immunology ; Humans ; Immunoglobulin A/blood ; Immunoglobulin A/immunology ; Intestine, Small/pathology ; Male ; Mass Screening/methods ; Predictive Value of Tests ; Sensitivity and Specificity ; Transglutaminases/blood ; Transglutaminases/immunology
    Chemical Substances Autoantibodies ; Immunoglobulin A ; transglutaminase 2 (EC 2.3.2.-) ; Transglutaminases (EC 2.3.2.13) ; GTP-Binding Proteins (EC 3.6.1.-)
    Language English
    Publishing date 2016-04
    Publishing country Pakistan
    Document type Journal Article
    ZDB-ID 2276646-7
    ISSN 1681-7168 ; 1022-386X
    ISSN (online) 1681-7168
    ISSN 1022-386X
    DOI 2288
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 6532: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top