Familial mediterranean fever with neonatal onset: case report

Familial Mediterranean fever (FMF) is an autosomal recessively inherited disorder characterized by recurrent fever and attacks of abdominal pain, chest pain, and joint pain. Attacks of recurrent fever and serositis are encountered clinically. Attacks may present either with only one symptom or many simultaneous symptoms. Although most of the patients are diagnosed clinically above the age of 2, those cases who are diagnosed before 2 years of age and with clinical course of isolated fever are believed to have a more serious course and tend to develop amyloidosis. In this article, a case who was admitted first on the 22nd day of life and later diagnosed to have FMF with recurrent attacks of isolated fever and no other focus is presented. We emphasize that FMF may present as early as in the first month of life, and it should be considered in cases presenting with fever of unknown origin and misdiagnosed to have late neonatal sepsis or occult bacteremia at this age group

Lymphoid papillary hyperplasia of palatine tonsils: a rare pediatric case from Turkey

Lymphoid papillary hyperplasia (LPH) is a rare abnormality of the tonsils with a tendency to affect young Asian females. We report a case of this rare condition in a 13-year-old girl. To our best knowledge, this case is the only pediatric Turkish case of LPH reported in the literature. The significance of recognizing this abnormality lies in its clinical appearance, given the fact that despite the clinical characteristics suggesting a diagnosis of epithelial papilloma or evenmalignancy, this process is benign, non-neoplastic, can readily be differentiated from other neoplastic lesions by histologic examination, and can easily be cured by tonsillectomy. (C) 2015 Elsevier Ireland Ltd. All rights reserved

Evaluation of plasma melatonin levels in children with afebrile and febrile seizures

BACKGROUND: Melatonin modulates central nervous system neuronal activity. We compared the melatonin levelsof patients with febrile and afebrile seizures during and after seizure with those of healthy controls. METHODS: Weenrolled 59 individuals with afebrile and febrile seizures (mean age, 6.09 4.46 years) and 28 age-, sex-, andweight-matched healthy children. Melatonin levels were measured near the time of a seizure (0 to 1 hour) and at12 and 24 hours post-seizure, and control melatonin levels were measured from a single venous blood sample.RESULTS: Plasma melatonin levels increased during seizures in the study group (P < 0.001). Post-seizure plasmamelatonin levels were significantly lower in the study group than in the control group (P < 0.05). Plasmamelatonin levels did not differ between patients with afebrile seizures who had and had not used antiepilepticdrugs. Daytime (8 AM to 8 PM) and nighttime (8 PM to 8 AM) post-seizure melatonin levels were not significantlydifferent. CONCLUSIONS: Melatonin levels were lower in pediatric patients prone to seizures than in healthy childrenand increased during seizures. Further research is needed to test the role of melatonin in the pathophysiologyand treatment of epilepsy

Histopathological findings and apoptosis caused by E. coli in layer birds

In this study, our aim was to evaluate lesions seen in the tissues in terms of histopathology and to investigate the apoptotic cells seen in the tissues when E. coli outbreak occurred in a poultry farm. A total of 48 Lohmann White strains (53 weeks old) were submitted to the laboratory for necropsy. Microbiologic and histopathologic examinations were done on the samples taken from tissues. Apoptotic cells were determined in all of the tissues. The number of apoptotic cells increased as the tissue damage increased

Outcome of treosulfan-based reduced-toxicity conditioning regimens for HSCT in high-risk patients with primary immune deficiencies

Introduction: HSCT is the curative therapeutic option in PIDs. Due to the increase in survival rates, reduced-toxicity conditioning regimens with treosulfan have become another alternative. The purpose of this retrospective study was to analyze the outcome of treosulfan-based conditioning before HSCT for patients with PID. Method: A total of 15 patients that received a treosulfan-based conditioning regimen for HSCT were recruited. Type of diagnosis, donor and stem cell source, pretransplant organ damage, infections, engraftment, chimerism, and transplant-related toxicities were analyzed. Results: At a median follow-up time of 32 months, the overall survival was 86.7%. Following HSCT, 14 of 15 patients had engraftment, with 86.7% of the cohort having full-donor chimerism. The most common toxicity was seen on the skin (53.3%). Acute GVHD and chronic GVHD were documented in 53% and 20% of the study population, respectively. Although the cohort consisted of patients with pretransplant liver damage, SOS manifestations were documented in 20%. Conclusion: Treosulfan-based conditioning regimens before HSCT are associated with lower toxicity compared to myeloablative regimens, are safe, and have high engraftment rates with full-donor chimerism in patients having PID, regardless of the specified genetic diagnosis and donor type

Diagnostic value of lung ultrasonography in children with COVID-19

Background: Lung ultrasound (LUS) has been successfully used in the diagnosis of different pulmonary diseases. Present study design to determine the diagnostic value of LUS in the evaluation of children with novel coronavirus disease 2019 (COVID-19). Methods and objectives: Prospective multicenter study, 40 children with confirmed COVID-19 were included. LUS was performed to all patients at admission. The chest X-ray and computed tomography (CT) were performed according to the decision of the primary physicians. LUS results were compared with chest X-ray and CT findings and diagnostic performance was determined. Results: Of the 40 children median (range) was 10.5 (0.4-17.8) years. Chest X-ray and LUS were performed on all and chest CT was performed on 28 (70%) patients at the time of diagnosis. Sixteen (40%) patients had no apparent chest CT abnormalities suggestive of COVID-19, whereas 12 (30%) had abnormalities. LUS confirmed the diagnosis of pulmonary involvement in 10 of 12 patients with positive CT findings. LUS demonstrated normal lung patterns among 15 of 16 patients who had normal CT features. The sensitivity and the area under the receiver operating characteristics (ROC) curve (area under the ROC curve) identified by the chest X-ray and LUS tests were compared and statistically significantly different (McNemar's test: p = .016 and p = .001 respectively) detected. Chest X-ray displayed false-negative results for pulmonary involvement in 75% whereas for LUS it was 16.7%. Conclusions: LUS might be a useful tool in the diagnostic steps of children with COVID-19. A reduction in chest CT assessments may be possible when LUS is used in the initial diagnostic steps for these children

Investigation of the relationship between cord clamping time and risk of hyperbilirubinemia

Background: Although the relationship between umbilical cord clamping time and various parameters such as hemoglobin (Hb) levels, iron deficiency, and risk of neonatal jaundice has previously been studied, to the best of our knowleadge there have been no studies investigating the relationship between cord clamping time and the risk of significant hyperbilirubinemia. We aimed to investigate the relationship between the time of umbilical cord clamping and transcutaneous bilirubin (TcB) measurements made on various postnatal hours, Hb and serum total bilirubin (STB) levels measured on postnatal 4th day, and the risk of development of significant hyperbilirubinemia requiring phototherapy treatment. Methods: Eligible newborns were divided into two groups on the basis of the time of cord clamping: those clamped late (60 seconds or more; Group I) and those clamped early (less than 60 seconds; Group II). Groups were compared with respect to the parameters of cord Hb, postnatal TcB measurements at 6th, 48th, 96th and 168th hours, and 96th hour Hb, STB and direct bilirubin levels. Results: TcB levels at the 96th and 168th hour were significantly higher in Group I when compared to Group II (p < 0.001 and p < 0.001, respectively). The 96th hour STB level was significantly higher in Group I when compared to Group II (p < 0.001). The need of phototherapy requirement was higher in Group I when compared to Group II (p=0.001). Increase in cord blood Hb for each 1 gr/dl caused a 3.94-fold increased risk in the requirement of phototherapy treatment. Cord clamping time showed statistically significant positive correlations with both cord blood and 96th hour venous Hb levels, with both 96th hour and 168th hour TcB levels, and with 96th hour STB levels. Conclusions: Newborns whose cords are clamped late should be followed up closely with respect to high postnatal bilirubin levels and other risks associated with significant hyperbilirubinemia requiring phototherapy treatment

Does the hyper IgM phenotype affect prognosis in ataxia telangiectasia?

Objective: To evaluate the characteristics of the patients who were followed-up with the diagnosis of ataxia telangiectasia (AT) and to assess the relationship between the hyper IgM (HIGM) phenotype and their prognosis. Materials and Methods: From 2007 to 2019, the study included 68 patients aged 3-35 years who were followed-up with the diagnosis of AT. We retrospectively evaluated the clinical and immunological characteristics and follow-up results. Results: There were 36 girls and 32 boys with a median follow-up of 10 years (1-12 years). The most common complaints upon admission were unsteady walk in 87%, infection in 6%, presence of a family history in 6%, and intracranial mass in 1%. The marriage was consanguineous in 85% of the parents. Ataxia was seen in 100% of the patients, telangiectasia in 97%, and immune deficiency in 88%. Bronchiectasis was observed in 23.5% of the patients, chronic diarrhea in 19%, lymphoproliferation in 15%, malignancy in 10%, autoimmunity in 10%, liver failure in 6%, and granulomatous skin lesions in 6%. Thirteen patients (19%) died during follow-up. The HIGM phenotype was identified in 31% of the patients. Recurrent upper and lower respiratory tract infections (p=0.004 and p<0.0001, respectively), liver failure (p=0.005), and autoimmune diseases (p=0.023) were significantly higher in the HIGM (+) group than the HIGM (-) group. Life expectancy was shorter in the HIGM (+) group with 14 ± 0.73 years (CI 95% 12.55-15.44) compared to the HIGM (-) group with 18 ± 1.64 years (CI 95% 14.77-21.22) (p=0.054). Conclusion: During the early childhood period and before the characteristic findings of AT develop, the patients might present at a hospital with infections, autoimmunity, lymphoproliferation, or malignancy. Physical examination, high alpha-fetoprotein (AFP) levels and immunological testing provide important data for the correct diagnosis. The HIGM phenotype aggravates the clinical course of the disease resulting in fatalities at an earlier age and at a higher rate

An unexpected infection in loss-of-function mutations in STAT3: malignant alveolar echinococcosis in liver

Loss-of-function (LOF) mutations in signal transducer and activator of transcription 3 (S TAT 3) gene causes autosomal dominant hyper immunoglobulin E syndrome (AD-HIES or Job's Syndrome), a rare and complex primary immunodeficiency (PID) syndrome characterized by increased levels of IgE (>2000 IU/mL), eosinophilia, recurrent staphylococcal skin abscesses, eczema, recurrent pneumonia, skeletal and connective tissue abnormalities. Although bacterial and fungal infections are common in AD-HIES, susceptibility to parasitic infections has not been reported. Alveolar echinococcosis (AE), a zoonosis caused by the growth of the Echinococcus multilocularis (EM) metacestode, mimics slow-growing liver cancer. The mortality rate of AE is very high when it is diagnosed late or undertreated. Here, we report a 14-year-old boy with AE infections of the liver and the lung resulting in liver failure and diagnosed as STAT3-LOF. To our knowledge, the association between these two conditions has not been reported in the literature before