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  1. Article ; Online: COVID-19 associated lower urinary tract symptoms in children.

    Tiryaki, Sibel / Egil, Oguz / Birbilen, Ahmet Ziya / Buyukcam, Ayse

    Journal of pediatric urology

    2022  Volume 18, Issue 5, Page(s) 680.e1–680.e7

    Abstract: Introduction: SARS-COV-2 is associated with unexpected symptoms. Several studies in adults reported urinary frequency with COVID-19. The aim of this study is to reveal lower urinary tract symptoms associated with COVID-19 (CALUTS) in children.: ... ...

    Abstract Introduction: SARS-COV-2 is associated with unexpected symptoms. Several studies in adults reported urinary frequency with COVID-19. The aim of this study is to reveal lower urinary tract symptoms associated with COVID-19 (CALUTS) in children.
    Patients-methods: All children diagnosed with COVID-19 and associated multisystem inflammatory syndrome in children (MIS-C) between November 2020-June 2021 in our hospital were reviewed and asked for urinary symptoms at the time of or following their disease. The ones reporting symptoms were invited for further evaluation. Parents were inquired for their child's former bladder and bowel function, their symptoms after the diagnosis of COVID-19 or MIS-C, onset and duration of the symptoms, and their current state. They were questioned for the frequency of voiding as well as dysuria, odor, and the presence of incontinence as well as other symptoms of COVID-19. The patients who reported symptoms at the time of inquiry were followed for cessation of symptoms. The parameters age, sex, need for hospitalization and admission to ICU were also compared to the whole group to evaluate the main characteristics of patients with lower urinary tract symptoms.
    Results: In total 20 patients (18/216 with acute disease and 2/36 with MIS-C) reported CALUTS (figure). Age and sex distribution were not significantly different from the patients without urinary symptoms (p = 0.777 and p = 0.141 respectively). All were otherwise healthy children with no concomitant chronic diseases other than overactive bladder in two. There were 13 girls and 7 boys. Mean age was 11 years (±5 years). Thirteen of the patients were older than 10 years; however, there were also 3 children under 5 years of age. All parents described a sudden onset of extremely increased urinary frequency and urgency lasting for weeks which disappeared gradually. Median bladder and bowel dysfunction questionnaire (BBDQ) score before COVID-19 was 2.5 (1-18) which increased to a median of 22 (15-29) at the time of the symptoms (p < 0.001). The timing of onset and duration of symptoms were variable and not associated with symptom severity (p = 0.306 and p = 0.450 respectively). Eight patients (40%) reported diarrhea. The duration of diarrhea was limited to less than one week in all.
    Conclusions: Our study revealed that SARS-COV-2 can be associated with lower urinary tract symptoms also in children both during the acute phase and MIS-C. Further studies are necessary to understand the etiopathogenesis and prevalence of this unexpected aspect of COVID-19.
    Language English
    Publishing date 2022-09-06
    Publishing country England
    Document type Journal Article
    ZDB-ID 2237683-5
    ISSN 1873-4898 ; 1477-5131
    ISSN (online) 1873-4898
    ISSN 1477-5131
    DOI 10.1016/j.jpurol.2022.08.018
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Evaluation of medication errors in pediatric patients using antibiotics.

    Özdemir, Nesligül / Kara, Emre / Büyükçam, Ayşe / Aykaç, Kübra / Çeliker, Ayçe / Demirkan, Kutay / Kara, Ateş

    The Turkish journal of pediatrics

    2022  Volume 63, Issue 6, Page(s) 970–977

    Abstract: Background: Medication errors are frequently seen in pediatric patients. Medication error studies on pediatric cases were found to not only be limited but also the collaboration of clinical pharmacists and physicians on this topic was not published in ... ...

    Abstract Background: Medication errors are frequently seen in pediatric patients. Medication error studies on pediatric cases were found to not only be limited but also the collaboration of clinical pharmacists and physicians on this topic was not published in Turkey. This study aimed to identify drug-related problems, especially in antibiotics.
    Methods: This study was a point prevalence study with pediatric inpatients that used at least one antibiotic at a pediatric tertiary care reference hospital on November 16, 2016. Medications of patients were evaluated by clinical pharmacists in terms of drug-related problems and by physicians in terms of correct indications.
    Results: Eighty-nine hospitalized patients were using antibiotics at the time of the study. The median age was 42 months (range: 1-226 months), and 49 (55.1%) of the patients were male. Clinical pharmacists detected a total of 210 potential drug-drug interactions in 46 (51.7%) patients. Approximately 48.5% of the patients in pediatric wards and 52.4% of the patients in surgical wards had at least one potential drug-drug interaction. A total of 39 medication errors were identified in 36 patients` drug orders. Most of the errors (51.3%) were due to dosing and administration time errors (35.9%). The number of errors per patient in surgical services was higher (0.47) than the pediatric services (0.42). Forty-three percent of errors were antimicrobial-related, and 70.5% of them were classified as dosing errors.
    Conclusions: Evaluation of patients` drug usage by a clinical pharmacist in terms of drug-related problems such as drug interactions, side effects and prescribing errors leads to better pharmaceutical care.
    MeSH term(s) Adolescent ; Anti-Bacterial Agents/adverse effects ; Child ; Child, Preschool ; Drug-Related Side Effects and Adverse Reactions ; Female ; Humans ; Infant ; Male ; Medication Errors ; Pharmacists ; Pharmacy Service, Hospital
    Chemical Substances Anti-Bacterial Agents
    Language English
    Publishing date 2022-01-13
    Publishing country Turkey
    Document type Journal Article
    ZDB-ID 123487-0
    ISSN 2791-6421 ; 0041-4301
    ISSN (online) 2791-6421
    ISSN 0041-4301
    DOI 10.24953/turkjped.2021.06.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Assessment of Efficacy and Adverse Effects of Bismuth-Based Treatment Combined with Bifidobacterium Lactis for Eradication of Helicobacter Pylori in Turkish Children

    Bolat, Ahmet / Yaprak, Deniz / Arslan, Melike / Büyükcam, Ayşe / Balamtekin, Necati

    Journal of Pediatric Infectious Diseases

    2022  Volume 17, Issue 06, Page(s) 297–302

    Abstract: Objective: There are many adverse effects of drugs used to eradicate Helicobacter pylori, and reconstructing the microbiota by external ingestion of probiotics seems to have good effects on H. pylori eradication and prevents side effects.: Methods: ...

    Abstract Objective: There are many adverse effects of drugs used to eradicate Helicobacter pylori, and reconstructing the microbiota by external ingestion of probiotics seems to have good effects on H. pylori eradication and prevents side effects.
    Methods: The study included 161 outpatients aged between 8 and 18 years diagnosed with H. pylori gastritis in the Gülhane Training and Research Hospital Pediatric Gastroenterology unit from June 1, 2018, through March 31, 2020, and patients were randomized into two groups. Eighty patients in the probiotic group (first group) received H. pylori eradication therapy for 14 days; additionally, Bifidobacterium lactis B94 was administered for 14 days for eradication of H. pylori. Eighty-one patients in the standard therapy group (second group) received the same eradication therapy but no probiotics. All patients were asked to complete a detailed questionnaire regularly, including changes in symptoms and side effects of drugs on days 0, 7, and 14 of treatment. The eradication success was checked with the H. pylori stool antigen test kit 8 weeks after completion of the treatment regimen.
    Results: The mean age of the patients was 14.2 ± 2.9 years, and 88 (64.7%) were female. The eradication rates were similar between the standard therapy and the probiotic groups by intention-to-treat analysis ( p  = 0.930). In order of frequency, the most common eradication treatment–related side effects were abdominal pain, taste abnormalities, and anorexia. In addition, therapy-related epigastric pain and flatulence were similar initially ( p  > 0.05) but seemed to be significantly lower in the probiotic group than in the standard therapy group on days 7 and 14 ( p  < 0.05).
    Conclusions: Our results suggest that additional probiotic supplementation has not changed the eradication rates but seems to reduce some specific gastrointestinal adverse events in children with H. pylori infections treated with a bismuth-based quadruple eradication regimen. More extensive randomized controlled trials are needed to explain probiotics' effects on H. pylori eradication and drug side effects.
    Keywords quadruple therapy ; probiotic
    Language English
    Publishing date 2022-11-01
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 2236947-8
    ISSN 1305-7693 ; 1305-7707 ; 1871-0336
    ISSN (online) 1305-7693
    ISSN 1305-7707 ; 1871-0336
    DOI 10.1055/s-0042-1758142
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  4. Article ; Online: Knowledge, attitudes, and practices regarding vaccination among community pharmacists.

    Ozdemir, Nesligul / Kara, Emre / Bayraktar-Ekincioglu, Aygin / Buyukcam, Ayse / Celiker, Ayce / Demirkan, Kutay / Kara, Ates

    Primary health care research & development

    2022  Volume 23, Page(s) e38

    Abstract: Background: Healthcare professionals' vaccine recommendation is the most effective method to increase vaccination rates of the community. The vaccine counseling and recommendation behavior of pharmacists, who are among the easily accessible healthcare ... ...

    Abstract Background: Healthcare professionals' vaccine recommendation is the most effective method to increase vaccination rates of the community. The vaccine counseling and recommendation behavior of pharmacists, who are among the easily accessible healthcare professionals, are influenced by their knowledge and attitudes about vaccines.
    Aim: It was aimed to investigate community pharmacists' knowledge, attitudes, and practices regarding commonly used vaccines.
    Methods: A cross-sectional study was conducted as an online survey with a sample of 1100 community pharmacists in Turkey. Pharmacists were invited to participate in the study by phone calls. A structured survey, which consists of 40 questions to assess the knowledge, attitudes, and practices regarding vaccines, was sent to the e-mail addresses of pharmacists who volunteered to participate in the study.
    Findings: A total of 430 pharmacists completed the survey. Thirty percent of pharmacists had lack of knowledge about vaccination during pregnancy, whereas 52.2% and 31.4% of pharmacists believed that tetanus and influenza vaccines should be provided during pregnancy, respectively. Nearly 89% of pharmacists recommended vaccines to patients, mainly for influenza vaccine (83.9%). Only 31.5% of pharmacists had been vaccinated against influenza in the last season, whereas 50.5% had never been vaccinated. Pharmacists who had been vaccinated with influenza vaccine had a high rate of recommending influenza vaccines to the patients.
    Conclusion: The present study found that vaccination among pharmacists in Turkey and their knowledge on vaccination during pregnancy were low. Further education of pharmacists to improve their knowledge and attitudes toward vaccines is needed.
    MeSH term(s) Cross-Sectional Studies ; Female ; Health Knowledge, Attitudes, Practice ; Humans ; Influenza Vaccines ; Pharmacists/psychology ; Pregnancy ; Surveys and Questionnaires ; Vaccination/psychology
    Chemical Substances Influenza Vaccines
    Language English
    Publishing date 2022-07-22
    Publishing country England
    Document type Journal Article
    ZDB-ID 2027892-5
    ISSN 1477-1128 ; 1477-1128
    ISSN (online) 1477-1128
    ISSN 1477-1128
    DOI 10.1017/S1463423622000330
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: A case of Raoultella ornithinolytica urinary tract infection in a pediatric patient.

    Büyükcam, Ayşe / Liste, Ümran / Bıçakçıgil, Asiye / Kara, Ateş / Sancak, Banu

    Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy

    2019  Volume 25, Issue 6, Page(s) 467–469

    Abstract: Raoultella ornithinolytica is a Gram-negative, non-motile, encapsulated, biofilm producing, facultative aerobic bacillus and is found in natural environment. Human infections with R.ornithinolytica is rare in children with only five cases having been ... ...

    Abstract Raoultella ornithinolytica is a Gram-negative, non-motile, encapsulated, biofilm producing, facultative aerobic bacillus and is found in natural environment. Human infections with R.ornithinolytica is rare in children with only five cases having been reported previously. The present case report describes an urinary tract infection caused by R. ornithinolytica that was identified by MALDI-TOF MS and successfully treated with antibiotic therapy in a 6.5-year-old female child.
    MeSH term(s) Anti-Bacterial Agents/pharmacology ; Anti-Bacterial Agents/therapeutic use ; Cefixime/pharmacology ; Cefixime/therapeutic use ; Child ; Drug Resistance, Bacterial ; Enterobacteriaceae/drug effects ; Enterobacteriaceae/isolation & purification ; Enterobacteriaceae Infections/complications ; Enterobacteriaceae Infections/diagnosis ; Enterobacteriaceae Infections/drug therapy ; Enterobacteriaceae Infections/microbiology ; Female ; Humans ; Microbial Sensitivity Tests ; Recurrence ; Treatment Outcome ; Urinary Tract Infections/complications ; Urinary Tract Infections/diagnosis ; Urinary Tract Infections/drug therapy ; Urinary Tract Infections/microbiology
    Chemical Substances Anti-Bacterial Agents ; Cefixime (97I1C92E55)
    Language English
    Publishing date 2019-01-22
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 1355399-9
    ISSN 1437-7780 ; 1341-321X
    ISSN (online) 1437-7780
    ISSN 1341-321X
    DOI 10.1016/j.jiac.2018.12.011
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  6. Article ; Online: Stenotrophomonas maltophilia bacteremia in children - A 10-year analysis.

    Büyükcam, Ayşe / Bıçakcıgil, Asiye / Cengiz, Ali B / Sancak, Banu / Ceyhan, Mehmet / Kara, Ateş

    Archivos argentinos de pediatria

    2020  Volume 118, Issue 3, Page(s) e317–e323

    Abstract: Stenotrophomonas maltophilia is a multidrug-resistant, Gramnegative, and biofilm-forming pathogen. Information is limited concerning S. maltophilia bacteremia in children. Clinical data and microbiological test results collected in a tertiary children's ... ...

    Title translation Bacteriemia por Stenotrophomonas maltophilia en niños: análisis de 10 años.
    Abstract Stenotrophomonas maltophilia is a multidrug-resistant, Gramnegative, and biofilm-forming pathogen. Information is limited concerning S. maltophilia bacteremia in children. Clinical data and microbiological test results collected in a tertiary children's hospital over a ten-year period were reviewed. Children 0-18 years old who had positive clinical specimen, blood and/or catheter cultures were included. We identified 20 S. maltophilia isolates from 12 pediatric patients with confirmed infections. The median age was 28 months (range: 3.1-187.3). The rate of previous use of antimicrobial therapy was 83 %. The median antibiotic number was 3 (range: 0-7) within 30 days prior to onset of S. maltophilia bacteremia. Catheter related infection was the main infectious source (66.6 %). The mortality rate was 33.3 %. The death of two non-survivors was associated with pneumonia. S. maltophilia should be considered a breakthrough agent for bacteremia in children with underlying disease exposed to broad-spectrum antibiotics during long-term hospitalization.
    MeSH term(s) Adolescent ; Anti-Bacterial Agents/adverse effects ; Bacteremia/diagnosis ; Bacteremia/etiology ; Bacteremia/microbiology ; Bacteremia/mortality ; Catheter-Related Infections/diagnosis ; Catheter-Related Infections/etiology ; Catheter-Related Infections/microbiology ; Catheter-Related Infections/mortality ; Child ; Child, Preschool ; Cross Infection/diagnosis ; Cross Infection/etiology ; Cross Infection/microbiology ; Cross Infection/mortality ; Female ; Gram-Negative Bacterial Infections/diagnosis ; Gram-Negative Bacterial Infections/etiology ; Gram-Negative Bacterial Infections/microbiology ; Gram-Negative Bacterial Infections/mortality ; Hospitalization ; Humans ; Infant ; Infant, Newborn ; Male ; Retrospective Studies ; Risk Factors ; Stenotrophomonas maltophilia/immunology
    Chemical Substances Anti-Bacterial Agents
    Language Spanish
    Publishing date 2020-06-12
    Publishing country Argentina
    Document type Journal Article ; Observational Study
    ZDB-ID 424449-7
    ISSN 1668-3501 ; 0325-0075 ; 0004-0487
    ISSN (online) 1668-3501
    ISSN 0325-0075 ; 0004-0487
    DOI 10.5546/aap.2020.eng.e317
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: A new use of

    Buyukeren, Melek / Yigit, Sule / Buyukcam, Ayse / Kara, Ates / Celik, Hasan Tolga / Yurdakok, Murat

    The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

    2020  Volume 35, Issue 6, Page(s) 1192–1198

    Abstract: Introduction: Enterococci are microbiota microorganisms that normally have low virulence; however, under some conditions they may cause community-acquired urinary tract and even hospital-acquired serious infections. Vancomycin-resistant enterococci (VRE) ...

    Abstract Introduction: Enterococci are microbiota microorganisms that normally have low virulence; however, under some conditions they may cause community-acquired urinary tract and even hospital-acquired serious infections. Vancomycin-resistant enterococci (VRE) can cause aggressive infections in immunosuppressive patients; especially in newborns in intensive care units. Asymptomatic gastrointestinal system carriers are important sources of VRE. Asymptomatic patients colonized by VRE can infect both other patients and the environment. Prevention of gastrointestinal colonization of VRE is an important issue to prevent VRE infection, and for rational use of hospital source.
    Method: This study was carried out at Hacettepe University, Faculty of Medicine in Newborn Intensive Care Unit between November 2015 and March 2017. The newborn infants who were find as colonized by VRE during weekly surveillance VRE rectal stool culture screening were taken into the study. A single dose of one million colonies of
    Results: In the study group, VRE eradication was successful in 21 patients out of 22 within 6 months and 1 patient was still VRE positive at 6 months. In the control group, VRE was eradicated in 12 patients out of 23 and 11 patients continued to be colonized by VRE at 6 months. There was a statistically significant difference between the groups (
    Conclusion: Lactobacillus rhamnosus
    MeSH term(s) Anti-Bacterial Agents/therapeutic use ; Cross Infection/drug therapy ; Gram-Positive Bacterial Infections/prevention & control ; Humans ; Infant ; Infant, Newborn ; Intensive Care Units, Neonatal ; Lactobacillus rhamnosus ; Vancomycin ; Vancomycin-Resistant Enterococci
    Chemical Substances Anti-Bacterial Agents ; Vancomycin (6Q205EH1VU)
    Language English
    Publishing date 2020-03-24
    Publishing country England
    Document type Journal Article
    ZDB-ID 2077261-0
    ISSN 1476-4954 ; 1057-0802 ; 1476-7058
    ISSN (online) 1476-4954
    ISSN 1057-0802 ; 1476-7058
    DOI 10.1080/14767058.2020.1743671
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Is Posaconazole Really Effective in Adolescent patients as a Prophylactic Agent: Experience of a Tertiary Care Center.

    Arikan, Kamile / Aytac, Selin / Büyükcam, Ayse / Cengiz, Ali B / Cetinkaya, Fahriye D / Cetin, Mualla / Ozsurekci, Yasemin / Ceyhan, Mehmet / Kara, Ates

    Journal of pediatric hematology/oncology

    2021  Volume 43, Issue 5, Page(s) e613–e618

    Abstract: Background: Invasive fungal infections (IFIs) are a leading cause of morbidity and death in immunocompromised patients. Data on efficacy and pharmacokinetics of posaconazole in pediatric patients are rare (1 to 5). Herein, we retrospectively analyzed ... ...

    Abstract Background: Invasive fungal infections (IFIs) are a leading cause of morbidity and death in immunocompromised patients. Data on efficacy and pharmacokinetics of posaconazole in pediatric patients are rare (1 to 5). Herein, we retrospectively analyzed adolescent patients who had received posaconazole as antifungal prophylaxis.
    Methods: We retrospectively analyzed patients who received posaconazole as primary or secondary antifungal prophylaxis.
    Results: A total of 34 adolescent patients, 19 men (55.9%) and 15 women (44.1%) with a mean age of 15.8±2.1 years were included. Twenty-five of 34 (73.5%) patients were on primary and nine of 34 (26.5%) patients were on secondary antifungal prophylaxis. Diagnosis of the patients receiving posaconazole as primary antifungal prophylaxis were acute myeloid leukemia (n=12, 48%), hematopoietic stem cell transplantation (n=7, 28%), acute lymphoblastic leukemia (n=5, 20%), and Fanconi aplastic anemia (n=1, 4%). Five patients (55.6%) with hematopoietic stem cell transplantation, 1 patient with acute myeloid leukemia (11.1%), 1 patient with Fanconi aplastic anemia (11.1%), and 2 (22.2%) patients with chronic granulomatous disease received posaconazole as secondary antifungal prophylaxis. Twelve of 25 (48%) patients receiving posaconazole as primary antifungal prophylaxis were complicated by IFI; 4 of them were proven, 6 probable, and 2 with possible IFI. Three of 9 patients (33.3%) receiving posaconazole as secondary antifungal prophylaxis was complicated by IFI (P=0.29), 2 of them were probable and 1 was possible IFI. Five of 25 patients (20%) receiving posaconazole as primary prophylaxis died because of IFI.
    Conclusion: Improvement of antifungal prophylaxis in patients with high risk of invasive infections seems clearly necessary, and analyzing serum posaconazole levels and individualizing dosing may be 1 approach to improve outcomes.
    MeSH term(s) Adolescent ; Antifungal Agents/therapeutic use ; Fanconi Anemia/complications ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; Kaplan-Meier Estimate ; Leukemia, Myeloid, Acute/complications ; Male ; Mycoses/etiology ; Mycoses/prevention & control ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications ; Retrospective Studies ; Tertiary Care Centers ; Triazoles/therapeutic use
    Chemical Substances Antifungal Agents ; Triazoles ; posaconazole (6TK1G07BHZ)
    Language English
    Publishing date 2021-02-09
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1231152-2
    ISSN 1536-3678 ; 1077-4114 ; 0192-8562
    ISSN (online) 1536-3678
    ISSN 1077-4114 ; 0192-8562
    DOI 10.1097/MPH.0000000000002080
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Acute peripheral facial paralysis following varicella infection: An uncommon complication.

    Hanalioğlu, Damla / Özsürekci, Yasemin / Büyükçam, Ayşe / Gültekingil-Keser, Ayşe / Tekşam, Özlem / Ceyhan, Mehmet

    The Turkish journal of pediatrics

    2018  Volume 60, Issue 1, Page(s) 99–101

    Abstract: Hanalioğlu D, Özsürekci Y, Büyükçam A, Gültekingil-Keser A, Tekşam Ö, Ceyhan M. Acute peripheral facial paralysis following varicella infection: An uncommon complication. Turk J Pediatr 2018; 60: 99-101. Chickenpox is caused by varicella zoster virus ( ... ...

    Abstract Hanalioğlu D, Özsürekci Y, Büyükçam A, Gültekingil-Keser A, Tekşam Ö, Ceyhan M. Acute peripheral facial paralysis following varicella infection: An uncommon complication. Turk J Pediatr 2018; 60: 99-101. Chickenpox is caused by varicella zoster virus (VZV/HHV-3), which is one of the eight human herpes viruses. Although chickenpox has a good prognosis, neurologic complications including encephalitis, acute cerebellar ataxia, myelitis and meningitis may seldom be associated with the disease. Peripheral facial palsy (PFP) is an extremely rare complication in patients with chickenpox. Herein, we report a 12-year-old boy with chickenpox and unilateral peripheral facial palsy, who was successfully treated with short-term steroids and physical rehabilitation.
    MeSH term(s) Acute Disease ; Chickenpox/complications ; Child ; Facial Paralysis/drug therapy ; Facial Paralysis/etiology ; Glucocorticoids/therapeutic use ; Herpesvirus 3, Human ; Humans ; Male ; Prednisolone/therapeutic use
    Chemical Substances Glucocorticoids ; Prednisolone (9PHQ9Y1OLM)
    Language English
    Publishing date 2018-08-13
    Publishing country Turkey
    Document type Case Reports ; Journal Article
    ZDB-ID 123487-0
    ISSN 0041-4301
    ISSN 0041-4301
    DOI 10.24953/turkjped.2018.01.016
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: Diagnostic dilemma in autoinflammatory disease in two patients: does the name matter?

    Gülhan, Bora / Büyükcam, Ayşe / Touitou, Isabelle / Özen, Seza

    The Turkish journal of pediatrics

    2013  Volume 55, Issue 3, Page(s) 315–318

    Abstract: The systemic autoinflammatory diseases are inflammatory disorders characterized by uncontrolled inflammation of the innate immune system. A common monogenic autoinflammatory disease is familial Mediterranean fever (FMF), associated with mutations in the ... ...

    Abstract The systemic autoinflammatory diseases are inflammatory disorders characterized by uncontrolled inflammation of the innate immune system. A common monogenic autoinflammatory disease is familial Mediterranean fever (FMF), associated with mutations in the MEFV gene. Another autoinflammatory disease group is cryopyrin-associated periodic syndromes (CAPS), which are characterized by urticarial rash and mutations of the gene NLRP. Systemiconset juvenile idiopathic arthritis (soJIA) is classified as a multifactorial autoinflammatory disease. We report two cases of systemic autoinflammatory disease with homozygous E148Q mutation in the FMF gene. They had unusual features, such as urticarial rash, non-erysipeloid erythema, lymphadenopathy, and hepatosplenomegaly, and neurological findings in one. These patients met the "definition" criteria for FMF with two mutations in the MEFV gene. They fit the "description" criteria for CAPS with their fever, urticaria, and other clinical features. They also met the "classification" criteria for soJIA, with the fever, rash, arthritis, and accompanying systemic features.
    MeSH term(s) Child, Preschool ; Colchicine/therapeutic use ; Cytoskeletal Proteins/genetics ; DNA/analysis ; DNA Mutational Analysis ; Diagnosis, Differential ; Familial Mediterranean Fever/diagnosis ; Familial Mediterranean Fever/drug therapy ; Familial Mediterranean Fever/genetics ; Female ; Gout Suppressants/therapeutic use ; Humans ; Male ; Mutation ; Pyrin
    Chemical Substances Cytoskeletal Proteins ; Gout Suppressants ; MEFV protein, human ; Pyrin ; DNA (9007-49-2) ; Colchicine (SML2Y3J35T)
    Language English
    Publishing date 2013-05
    Publishing country Turkey
    Document type Case Reports ; Journal Article
    ZDB-ID 123487-0
    ISSN 0041-4301
    ISSN 0041-4301
    Database MEDical Literature Analysis and Retrieval System OnLINE

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