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  1. Article ; Online: Parental attitude and knowledge towards asthma care measures for their children in Saudi Arabia.

    Alhammad, Abdullah M / Alajmi, Ghada / Alenizi, Ahmed / Alrashidi, Essa / Alghannam, Ghannam / Alaki, Emadia / Alsaadi, Muslim M / Mayet, Ahmed Y

    Pediatric pulmonology

    2020  Volume 55, Issue 11, Page(s) 2901–2907

    Abstract: Background: Appropriate asthma management in children reduces emergency department visits, hospitalization, and improves the quality of life. We aim to assess the level of children asthma control and its association with parental knowledge.: Methods: ...

    Abstract Background: Appropriate asthma management in children reduces emergency department visits, hospitalization, and improves the quality of life. We aim to assess the level of children asthma control and its association with parental knowledge.
    Methods: A prospective study conducted to measure childhood asthma control with a validated childhood asthma control test (C-ACT), and to assess asthma knowledge among the parents of children aged 4-11 years and their parents upon asthma clinic visits. C-ACT score ≤ 19 is considered as uncontrolled child asthma.
    Results: We have invited 238 parents to participate in the study; 177 (74.4%) completed the survey. The mean age of the parents and their children were 38.8 ± 7.6 and 7.8 ± 2.7 years, respectively; 28.2% of parents were smokers, and 46.3% of them were college graduated. Nearly 61.6% of the parents and children scored ≤ 19 on C-ACT; 54.2% and 37.9% of parents knew how inhaled salbutamol and corticosteroids work, respectively. A quarter of the parents received an asthma action plan. Multinomial logistic regression analysis showed that parents who did not know their children's medications name (OR, 6.1; 95% CI, 2.15-17.29), and when to use inhaled corticosteroid (OR, 2.1; 95% CI, 1.32-3.45) were independent factors predicting uncontrolled asthma in children with score ≤ 19.
    Conclusions: The study indicated that there is an association between poor asthma control (scored ≤ 19 on C-ACT) and parental knowledge of asthma medications. The parents should be educated thoroughly on asthma care, including medications used to minimize asthma exacerbations in their children.
    MeSH term(s) Adrenal Cortex Hormones/therapeutic use ; Adult ; Albuterol/therapeutic use ; Asthma/drug therapy ; Child ; Child, Preschool ; Female ; Health Education ; Health Knowledge, Attitudes, Practice ; Humans ; Male ; Middle Aged ; Parents/psychology ; Prospective Studies ; Quality of Life ; Saudi Arabia ; Surveys and Questionnaires
    Chemical Substances Adrenal Cortex Hormones ; Albuterol (QF8SVZ843E)
    Language English
    Publishing date 2020-09-17
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 632784-9
    ISSN 1099-0496 ; 8755-6863
    ISSN (online) 1099-0496
    ISSN 8755-6863
    DOI 10.1002/ppul.25060
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Chronic Disseminated Salmonellosis in a Patient With Interleukin-12p40 Deficiency.

    Alaki, Emadia Mohammad / Aljobair, Fahad / Alaklobi, Faisal / Al Shamrani, Mobarak / Al-Zahim, Fahad / Dongues, Aziza / Casanova, Jean-Laurent

    The Pediatric infectious disease journal

    2017  Volume 37, Issue 1, Page(s) 90–93

    Abstract: Interleukin (IL)-12 is composed of p35 and p40 subunits; in this case, IL-12p40 deficiency is a rare genetic etiology of Mendelian susceptibility to mycobacterial disease. Salmonellosis has been reported in almost half of these patients and mostly ... ...

    Abstract Interleukin (IL)-12 is composed of p35 and p40 subunits; in this case, IL-12p40 deficiency is a rare genetic etiology of Mendelian susceptibility to mycobacterial disease. Salmonellosis has been reported in almost half of these patients and mostly present in recurrent extraintestinal form. In this report, we described an 18-month-old boy with absence of IL-12p40 production suffering from chronic disseminated nontyphoidal salmonellosis. To the best of our knowledge, this is the first-reported case.
    MeSH term(s) Anti-Bacterial Agents/administration & dosage ; Anti-Bacterial Agents/therapeutic use ; Diagnosis, Differential ; Humans ; Infant ; Interleukin-12 Subunit p40/deficiency ; Interleukin-12 Subunit p40/genetics ; Male ; Mutation/genetics ; Mycobacterium Infections ; Salmonella Infections/diagnosis ; Salmonella Infections/drug therapy ; Salmonella Infections/genetics ; Salmonella Infections/physiopathology
    Chemical Substances Anti-Bacterial Agents ; Interleukin-12 Subunit p40
    Language English
    Publishing date 2017-07-13
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 392481-6
    ISSN 1532-0987 ; 0891-3668
    ISSN (online) 1532-0987
    ISSN 0891-3668
    DOI 10.1097/INF.0000000000001701
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.

    Prando, Carolina / Samarina, Arina / Bustamante, Jacinta / Boisson-Dupuis, Stéphanie / Cobat, Aurelie / Picard, Capucine / AlSum, Zobaida / Al-Jumaah, Suliman / Al-Hajjar, Sami / Frayha, Husn / Al-Mousa, Hamoud / Ben-Mustapha, Imen / Adimi, Parisa / Feinberg, Jacqueline / de Suremain, Maylis / Jannière, Lucile / Filipe-Santos, Orchidée / Mansouri, Nahal / Stephan, Jean-Louis /
    Nallusamy, Revathy / Kumararatne, Dinakantha S / Bloorsaz, Mohamad Reza / Ben-Ali, Meriem / Elloumi-Zghal, Houda / Chemli, Jalel / Bouguila, Jihene / Bejaoui, Mohamed / Alaki, Emadia / AlFawaz, Tariq S / Al Idrissi, Eman / ElGhazali, Gehad / Pollard, Andrew J / Murugasu, Belinda / Wah Lee, Bee / Halwani, Rabih / Al-Zahrani, Mohammed / Al Shehri, Mohammed A / Al-Zahrani, Mofareh / Bin-Hussain, Ibrahim / Mahdaviani, Seyed Alireza / Parvaneh, Nima / Abel, Laurent / Mansouri, Davood / Barbouche, Ridha / Al-Muhsen, Saleh / Casanova, Jean-Laurent

    Medicine

    2013  Volume 92, Issue 2, Page(s) 109–122

    Abstract: Autosomal recessive interleukin (IL)-12 p40 (IL-12p40) deficiency is a rare genetic etiology of mendelian susceptibility to mycobacterial disease (MSMD). We report the genetic, immunologic, and clinical features of 49 patients from 30 kindreds ... ...

    Abstract Autosomal recessive interleukin (IL)-12 p40 (IL-12p40) deficiency is a rare genetic etiology of mendelian susceptibility to mycobacterial disease (MSMD). We report the genetic, immunologic, and clinical features of 49 patients from 30 kindreds originating from 5 countries (India, Iran, Pakistan, Saudi Arabia, and Tunisia). There are only 9 different mutant alleles of the IL12B gene: 2 small insertions, 3 small deletions, 2 splice site mutations, and 1 large deletion, each causing a frameshift and leading to a premature stop codon, and 1 nonsense mutation. Four of these 9 variants are recurrent, affecting 25 of the 30 reported kindreds, due to founder effects in specific countries. All patients are homozygous and display complete IL-12p40 deficiency. As a result, the patients lack detectable IL-12p70 and IL-12p40 and have low levels of interferon gamma (IFN-γ). The clinical features are characterized by childhood onset of bacille Calmette-Guérin (attenuated Mycobacterium bovis strain) (BCG) and Salmonella infections, with recurrences of salmonellosis (36.4%) more common than recurrences of mycobacterial disease (25%). BCG vaccination led to BCG disease in 40 of the 41 patients vaccinated (97.5%). Multiple mycobacterial infections were rare, observed in only 3 patients, whereas the association of salmonellosis and mycobacteriosis was observed in 9 patients. A few other infections were diagnosed, including chronic mucocutaneous candidiasis (n = 3), nocardiosis (n = 2), and klebsiellosis (n = 1). IL-12p40 deficiency has a high but incomplete clinical penetrance, with 33.3% of genetically affected relatives of index cases showing no symptoms. However, the prognosis is poor, with mortality rates of up to 28.6%. Overall, the clinical phenotype of IL-12p40 deficiency closely resembles that of interleukin 12 receptor β1 (IL-12Rβ1) deficiency. In conclusion, IL-12p40 deficiency is more common than initially thought and should be considered worldwide in patients with MSMD and other intramacrophagic infectious diseases, salmonellosis in particular.
    MeSH term(s) Adolescent ; Adult ; Age of Onset ; Asia, Western/epidemiology ; Child ; Child, Preschool ; Cohort Studies ; DNA Mutational Analysis ; Female ; Founder Effect ; Genetic Predisposition to Disease ; Humans ; Infant ; Interleukin-12 Subunit p40/deficiency ; Interleukin-12 Subunit p40/genetics ; Male ; Mycobacterium Infections, Nontuberculous/genetics ; Mycobacterium Infections, Nontuberculous/immunology ; Mycobacterium Infections, Nontuberculous/mortality ; Penetrance ; Salmonella Infections/genetics ; Survival Analysis ; Tunisia/epidemiology ; Young Adult
    Chemical Substances Interleukin-12 Subunit p40
    Language English
    Publishing date 2013-02-20
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 80184-7
    ISSN 1536-5964 ; 0025-7974
    ISSN (online) 1536-5964
    ISSN 0025-7974
    DOI 10.1097/MD.0b013e31828a01f9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

    Monies, Dorota / Abouelhoda, Mohammed / Assoum, Mirna / Moghrabi, Nabil / Rafiullah, Rafiullah / Almontashiri, Naif / Alowain, Mohammed / Alzaidan, Hamad / Alsayed, Moeen / Subhani, Shazia / Cupler, Edward / Faden, Maha / Alhashem, Amal / Qari, Alya / Chedrawi, Aziza / Aldhalaan, Hisham / Kurdi, Wesam / Khan, Sameena / Rahbeeni, Zuhair /
    Alotaibi, Maha / Goljan, Ewa / Elbardisy, Hadeel / ElKalioby, Mohamed / Shah, Zeeshan / Alruwaili, Hibah / Jaafar, Amal / Albar, Ranad / Akilan, Asma / Tayeb, Hamsa / Tahir, Asma / Fawzy, Mohammed / Nasr, Mohammed / Makki, Shaza / Alfaifi, Abdullah / Akleh, Hanna / Yamani, Suad / Bubshait, Dalal / Mahnashi, Mohammed / Basha, Talal / Alsagheir, Afaf / Khaled, Musad Abu / Alsaleem, Khalid / Almugbel, Maisoon / Badawi, Manal / Bashiri, Fahad / Bohlega, Saeed / Sulaiman, Raashida / Tous, Ehab / Ahmed, Syed / Algoufi, Talal / Al-Mousa, Hamoud / Alaki, Emadia / Alhumaidi, Susan / Alghamdi, Hadeel / Alghamdi, Malak / Sahly, Ahmed / Nahrir, Shapar / Al-Ahmari, Ali / Alkuraya, Hisham / Almehaidib, Ali / Abanemai, Mohammed / Alsohaibaini, Fahad / Alsaud, Bandar / Arnaout, Rand / Abdel-Salam, Ghada M H / Aldhekri, Hasan / AlKhater, Suzan / Alqadi, Khalid / Alsabban, Essam / Alshareef, Turki / Awartani, Khalid / Banjar, Hanaa / Alsahan, Nada / Abosoudah, Ibraheem / Alashwal, Abdullah / Aldekhail, Wajeeh / Alhajjar, Sami / Al-Mayouf, Sulaiman / Alsemari, Abdulaziz / Alshuaibi, Walaa / Altala, Saeed / Altalhi, Abdulhadi / Baz, Salah / Hamad, Muddathir / Abalkhail, Tariq / Alenazi, Badi / Alkaff, Alya / Almohareb, Fahad / Al Mutairi, Fuad / Alsaleh, Mona / Alsonbul, Abdullah / Alzelaye, Somaya / Bahzad, Shakir / Manee, Abdulaziz Bin / Jarrad, Ola / Meriki, Neama / Albeirouti, Bassem / Alqasmi, Amal / AlBalwi, Mohammed / Makhseed, Nawal / Hassan, Saeed / Salih, Isam / Salih, Mustafa A / Shaheen, Marwan / Sermin, Saadeh / Shahrukh, Shamsad / Hashmi, Shahrukh / Shawli, Ayman / Tajuddin, Ameen / Tamim, Abdullah / Alnahari, Ahmed / Ghemlas, Ibrahim / Hussein, Maged / Wali, Sami / Murad, Hatem / Meyer, Brian F / Alkuraya, Fowzan S

    American journal of human genetics

    2019  Volume 105, Issue 4, Page(s) 879

    Language English
    Publishing date 2019-10-04
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2019.09.019
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

    Monies, Dorota / Abouelhoda, Mohammed / Assoum, Mirna / Moghrabi, Nabil / Rafiullah, Rafiullah / Almontashiri, Naif / Alowain, Mohammed / Alzaidan, Hamad / Alsayed, Moeen / Subhani, Shazia / Cupler, Edward / Faden, Maha / Alhashem, Amal / Qari, Alya / Chedrawi, Aziza / Aldhalaan, Hisham / Kurdi, Wesam / Khan, Sameena / Rahbeeni, Zuhair /
    Alotaibi, Maha / Goljan, Ewa / Elbardisy, Hadeel / ElKalioby, Mohamed / Shah, Zeeshan / Alruwaili, Hibah / Jaafar, Amal / Albar, Ranad / Akilan, Asma / Tayeb, Hamsa / Tahir, Asma / Fawzy, Mohammed / Nasr, Mohammed / Makki, Shaza / Alfaifi, Abdullah / Akleh, Hanna / Yamani, Suad / Bubshait, Dalal / Mahnashi, Mohammed / Basha, Talal / Alsagheir, Afaf / Abu Khaled, Musad / Alsaleem, Khalid / Almugbel, Maisoon / Badawi, Manal / Bashiri, Fahad / Bohlega, Saeed / Sulaiman, Raashida / Tous, Ehab / Ahmed, Syed / Algoufi, Talal / Al-Mousa, Hamoud / Alaki, Emadia / Alhumaidi, Susan / Alghamdi, Hadeel / Alghamdi, Malak / Sahly, Ahmed / Nahrir, Shapar / Al-Ahmari, Ali / Alkuraya, Hisham / Almehaidib, Ali / Abanemai, Mohammed / Alsohaibaini, Fahad / Alsaud, Bandar / Arnaout, Rand / Abdel-Salam, Ghada M H / Aldhekri, Hasan / AlKhater, Suzan / Alqadi, Khalid / Alsabban, Essam / Alshareef, Turki / Awartani, Khalid / Banjar, Hanaa / Alsahan, Nada / Abosoudah, Ibraheem / Alashwal, Abdullah / Aldekhail, Wajeeh / Alhajjar, Sami / Al-Mayouf, Sulaiman / Alsemari, Abdulaziz / Alshuaibi, Walaa / Altala, Saeed / Altalhi, Abdulhadi / Baz, Salah / Hamad, Muddathir / Abalkhail, Tariq / Alenazi, Badi / Alkaff, Alya / Almohareb, Fahad / Al Mutairi, Fuad / Alsaleh, Mona / Alsonbul, Abdullah / Alzelaye, Somaya / Bahzad, Shakir / Manee, Abdulaziz Bin / Jarrad, Ola / Meriki, Neama / Albeirouti, Bassem / Alqasmi, Amal / AlBalwi, Mohammed / Makhseed, Nawal / Hassan, Saeed / Salih, Isam / Salih, Mustafa A / Shaheen, Marwan / Sermin, Saadeh / Shahrukh, Shamsad / Hashmi, Shahrukh / Shawli, Ayman / Tajuddin, Ameen / Tamim, Abdullah / Alnahari, Ahmed / Ghemlas, Ibrahim / Hussein, Maged / Wali, Sami / Murad, Hatem / Meyer, Brian F / Alkuraya, Fowzan S

    American journal of human genetics

    2019  Volume 104, Issue 6, Page(s) 1182–1201

    Abstract: We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we ... ...

    Abstract We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates. We report additional mutational events in 64 previously reported candidates (40 recessive), and these events support their candidacy. We report recessive forms of genes that were previously associated only with dominant disorders and that have phenotypes ranging from consistent with to conspicuously distinct from the known dominant phenotypes. We also report homozygous loss-of-function events that can inform the genetics of complex diseases. We were also able to deduce the likely causal variant in most couples who presented after the loss of one or more children, but we lack samples from those children. Although a similar pattern of mostly recessive causes was observed in the prenatal setting, the higher proportion of loss-of-function events in these cases was notable. The allelic series presented by the wealth of recessive variants greatly expanded the phenotypic expression of the respective genes. We also make important observations about dominant disorders; these observations include the pattern of de novo variants, the identification of 74 candidate dominant, disease-related genes, and the potential confirmation of 21 previously reported candidates. Finally, we describe the influence of a predominantly autosomal-recessive landscape on the clinical utility of rapid sequencing (Flash Exome). Our cohort's genotypic and phenotypic data represent a unique resource that can contribute to improved variant interpretation through data sharing.
    MeSH term(s) Child ; Cohort Studies ; Consanguinity ; Female ; Genes, Recessive ; Genetic Diseases, X-Linked/epidemiology ; Genetic Diseases, X-Linked/genetics ; Genetic Predisposition to Disease ; Homozygote ; Humans ; Male ; Mutation ; Phenotype ; Pregnancy ; Saudi Arabia/epidemiology ; Whole Exome Sequencing/methods
    Language English
    Publishing date 2019-05-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2019.04.011
    Database MEDical Literature Analysis and Retrieval System OnLINE

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