The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.MethodsThis multi-center, prospective study enrolled patients aged 3–216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months. Patients with a known history of liver or muscle disease or physical examination findings suggestive of liver disease were excluded. Patients were screened for creatinine phosphokinase (CPK) levels, and molecular genetic tests for DMD/BMD in male patients and enzyme analysis for PD in male and female patients with elevated CPK levels were performed. Genetic analyses confirmed PD. Demographic, clinical, and laboratory characteristics of the patients were analyzed.ResultsOverall, 589 patients [66.8% male, mean age of 63.4 months (standard deviation: 60.5)] were included. In total, 251 patients (188 male and 63 female) had CPK levels above the ULN. Of the patients assessed, 47% (85/182) of male patients were diagnosed with DMD/BMD and 1% (3/228) of male and female patients were diagnosed with PD. The median ALT, AST, and CPK levels were statistically significantly higher, and the questioned neurological symptoms and previously unnoticed examination findings were more common in DMD/BMD patients than those without DMD/BMD or PD (p < 0.001).DiscussionQuestioning neurological symptoms, conducting a complete physical examination, and testing for CPK levels in patients with isolated hypertransaminasemia will prevent costly and time-consuming investigations for liver diseases and will lead to the diagnosis of occult neuromuscular diseases. Trial RegistrationClinicaltrials.gov NCT04120168

MUŞ İLİNDEKİ GEBELERDE TOXOPLASMA GONDII SEROPREVALANSININ BELİRLENMESİ

Toksoplazmoz tüm dünyada yaygın olarak görülen ve etkeni Toxoplasma gondii olan bir hastalıktır. Genellikle hafif olmakla birlikte, immün yetmezliği olanlarda ve gebelerde klinik olarak daha ciddi seyredebilmektedir. Gebelikte geçirilen toksoplazmoz sonucu düşük, erken ve ölü doğum görülebilmektedir. Bu çalışmada T. gondii seropozitifliğinin ve akut toksoplazmoz olgularının bölgesel prevalansının incelenmesi amaçlanmıştır. Çalışmada 01/11/2018 ile 14/05/2020 tarihleri arasında hastanemize başvuran gebelerin Toksoplazma IgM, IgG ve Toksoplazma IgG avidite test sonuçları retrospektif olarak incelenmiştir. Mükerrer örnekler çıkarıldığında geriye kalan 6567 gebeye ait test sonuçları değerlendirmeye alınmıştır. Gebelerin 6435’inde Toksoplazma IgM ve IgG testleri birlikteliği gözlenmiştir. Bunların 1902’sinde (%28.9) Toksoplazma IgG pozitifliği saptanmıştır. Toksoplazma IgM değeri pozitif veya sınır değer aralığındaki 146 gebenin 53’ünde Toksoplazma IgG avidite testi istemi yapılmıştır. Bu gebelerden üçünde Toksoplazma IgG aviditesi düşük bulunmuş ve intrauterin enfeksiyon açısından riskli olarak kabul edilerek tedavi başlanmıştır. Sonuç olarak; çalışmada hastanemize başvuran gebelerden istenen Toksoplazma IgM, Toksoplazma IgG ve Toksoplazma IgG avidite test sonuçları retrospektif olarak değerlendirilmiştir. Ülkemizde yapılan diğer çalışmalarla benzer şekilde Toksoplazma IgG pozitifliğinin yaşla birlikte anlamlı olarak arttığı gözlenmiştir (p<0.001). İlimizde hayvancılığın yaygın olması nedeniyle etkenle karşılaşma riskinin yaş ilerledikçe artmasının bu durumu açıklayabileceği düşünülmüştür. Anahtar kelimeler: Toxoplasma gondii, Toksoplazma IgM, Toksoplazma IgG, Toksoplazma IgG avidit

Nasal carriage of S.aureus in children with allergic rhinitis

INTRODUCTION: INTRODUCTION: Allergic rhinitis is an Ig E mediated mucosal inflammation of the nasal mucosa. S.aureus may be identified as a coloniser of the nasal flora of heathy individuals. In this study, we aimed to evaluate the effect of topical mometazon furoat (MF) usage on nasal S.aureus carriage among patients with allergic rhinitis. METHODS: METHODS: Our study included 44 newly diagnosed allegic rhinitis patients never used drugs previously, 45 patients whom have been using MF minimum of six months and 27 healthy children as control group. All volunteers' gave nasal samples via Stuart transport swab and samples cultured and incubated to agar for 24 to 48 hours. Identification of the colonies performed via conventional methods and VITEK®2 Compact. RESULTS: RESULTS: The percentages of positive S.aureus nazal culture detected 40.9, 48.9 and 11.1 for newly diagnosed allegic rhinitis cases, patients using MF minimum of six months and healthy control group, respectively. DISCUSSION AND CONCLUSION: DISCUSSION AND CONCLUSION: The allergic rhinitis seems to increase nasal S.aureus colonisation significantly, but nasal MF don't increase the possibility of this colonisation

Nasal care in intensive care unit patients

WOS: 000418528600006PubMed ID: 28916414Purpose: The aim of this study was to investigate nasal hygiene in intensive care patients and improve patient care using isotonic saline nasal spray. Material and methods: In the study group, over a period of ten days saline nasal spray was administered four times daily. Nasal treatment was not given to the control group. Each patient was examined with a flexible nasopharyngoscope before and after the treatment and a nasal culture was taken. Results: In the study group, the secretion score (1- absent; 2- serosal; 3- seropurulent and 4- purulent) mean value improved from 1.9 to 1.4. In the control group, the secretion score mean value had risen from 1.7 to 3.1. At the beginning of the study, there was no difference in secretion scores between the groups, but on the tenth day a statistically significant difference was found. Conclusion: The use of saline nasal spray in this group of intensive care patients was found to be effective in achieving nasal hygiene