A rare disease: ZAP70 deficiency.

Zeta associated protein (ZAP) 70 deficiency is a rare disease. ZAP70 deficiency results in an autosomal recessive form of severe combined immunodeficiency (SCID) that is characterized by a selective absence of CD8 T cells. The diagnosis should be suspected in patients presenting with a severe combined immunodeficiency phenotype and selective deficiency of CD8 T cells. Sequencing of the ZAP70 gene can confirm the diagnosis. We wanted to emphasize that immunodeficiencies should also be remembered in the differential diagnosis by presenting a 5-month-old patient who applied to our clinic with complaints of skin rash and cough, was given respiratory support with mechanical ventilation for a long time, and was diagnosed with ZAP70 deficiency.

Cardiac involvement in multisystem inflammatory syndrome in children: single-centre experience.

BACKGROUND: This study aimed to evaluate electrocardiographic and echocardiographic findings, Holter recordings of the multisystem inflammatory syndrome in children, and to identify prognostic factors for cardiac involvement. METHODS: We retrospectively reviewed demographic characteristics, medical data, laboratory findings, electrocardiogram and echocardiographic findings, 24-hour Holter recordings, need for an ICU, and extracorporeal membrane oxygenation in multisystem inflammatory syndrome in children. Acute left ventricular systolic dysfunction was defined as left ventricular ejection fraction (EF) ≤%55 on echocardiography. RESULTS: Sixty-seven children were included in the study. 24-hour Holters were recorded in 61.2% of the patients and 49.2% were normal. On echocardiographic examination, 14.9% of the patients had systolic dysfunction (EF ≤ 55%). While 32.8% of patients had mild mitral regurgitation, 3% had moderate mitral regurgitation, and 6% had mild aortic regurgitation. There was no statistically significant difference in EF values between the group with arrhythmia in Holter and the group with normal Holter results (p ≥ 0.05). B-type natriuretic peptide was positively correlated with C-reactive protein, ferritin, and fibrinogen. Significant effectivity of the B-type natriuretic peptide value was observed in the differentiation of those with EF ≤ and > 55%. Extracorporeal membrane oxygenation support was needed for three (4.5%) patients. One patient who died had systemic juvenile idiopathic arthritis. CONCLUSIONS: Neutrophil/lymphocyte ratio, C-reactive protein, D-dimer, ferritin, troponin, and B-type natriuretic peptide were found to be significantly higher in patients with systolic dysfunction. Also, the cut-off value of 1700 pg/ml for B-type natriuretic peptide was significantly effective. These parameters may indicate the severity of the disease but should be supported by prospective studies.

Sonoelastographic Evaluation of Recurrent Thyroid Nodules in Patients with Operated Recurrent Nodular Goiters.

Alterations in neck anatomy after thyroid surgery and post-operative fibrosis may be misleading by causing sonoelastographic changes in recurrent tissues in patients with recurrent nodular goiter and so may result in unnecessary biopsies or surgical procedures. Here, the aim was to examine thyroid sonoelastography values in patients developing a recurrence and presenting with recurrent nodular goiter with benign cytology after total or near-total thyroidectomy (T/N-TT). Twenty-nine nodules from 22 patients with a recurrence after T/N-TT whose biopsies were found to be benign constituted the patients, and 23 nodules from 23 participants among the non-operated patients having solitary or multiple thyroid nodules and with age, gender and body mass index values similar to those of the patients constituted our controls. Shear-wave velocity (SWV) values were measured. Average elapsed time after T/N-TT was 11.82 (4:25) y. No difference was detected between the groups in terms of localization and sonographic structures of the nodules. Nodule SWV values were higher in the operated recurrent nodular goiter group than in the controls (2.93 ± 0.87 m/s vs. 2.43 ± 0.33 m/s, respectively, p = 0.011). Because SWV values are high in operated recurrent nodular goiter patients, the utilization of reference sonoelastography values in those with unoperated goiter may yield misleading results in the differentiation of benign and malignant lesions.

Differences and similarities of multisystem inflammatory syndrome in children, Kawasaki disease and macrophage activating syndrome due to systemic juvenile idiopathic arthritis: a comparative study.

To compare the clinical and laboratory findings of multisystem inflammatory syndrome in children (MIS-C), patients with Kawasaki disease (KD) and with macrophage activating syndrome due to systemic juvenile idiopathic arthritis (sJIA-MAS) on real-life data. Patients diagnosed with MIS-C, KD, and sJIA-MAS from 12 different centers in Turkey who were followed for at least 6 months were included in the study. Demographic, clinical, and laboratory findings of all patients were analyzed. A total of 154 MIS-C, 59 KD, and 31 sJIA-MAS patients were included. The median age of patients with MIS-C were higher than those with KD while lower than those with sJIA-MAS (8.2, 3, 12 years, respectively). Myalgia (39.6%), cardiac (50.6%), gastrointestinal (72.7%), and neurological (22.1%) involvements were more common in patients with MIS-C compared to others. MIS-C patients had lower levels of lymphocyte (950 vs 1700 cells/µl) and thrombocyte (173,000 vs 355,000 cells/µl) counts and higher pro-BNP (1108 vs 55 pg/ml) levels than KD. Ferritin levels were higher in patients with MIS-C compared to patients with KD while they were lower than patients with sJIA-MAS (440, 170, 10,442 ng/ml, respectively). Patients with MIS-C had a shorter duration of hospitalization than sJIA-MAS (p = 0.02) while they required intensive care unit admission more frequently (55 vs 8 patients, p < 0.001). The median MAS/sJIA score of MIS-C patients was - 1.64 (- 5.23 to 9.68) and the median MAS/sJIA score of sJIA-MAS patients was -2.81 ([- 3.79] to [- 1.27]). MIS-C patients displayed certain differences in clinical and laboratory features when compared to KD and sJIA-MAS. Definition of the differences and similarities between MIS-C and the other intense inflammatory syndromes of childhood such as KD and MAS will help the clinicians while making timely diagnosis.

SARS-CoV-2 infection in children with rheumatic disease: Experience of a tertiary referral center.

OBJECTIVES: In this study, we present our clinical severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) experience in patients with childhood rheumatic disease during novel coronavirus-2019 (COVID-19) pandemic. PATIENTS AND METHODS: A total of 87 patients (50 males, 37 females; median age: 12 years; range, 6.6 to 16 years) suspected of having COVID-19 at our pediatric rheumatology clinic between March 11th and October 15th 2020 were retrospectively analyzed. Demographic and clinical features, treatments, laboratory results, imaging findings, and clinical outcomes of the patients diagnosed with COVID-19 and/or multisystem inflammatory syndrome in children (MIS-C) were retrieved from the medical records. The diagnosis of SARS-CoV-2 infection was made based on the reverse transcriptase-polymerase chain reaction test. RESULTS: The most common rheumatic diseases were juvenile idiopathic arthritis and familial Mediterranean fever (35.6% and 34.5%, respectively). Twenty-six of these patients were treated with biological disease-modifying anti-rheumatic drugs. SARS-CoV-2 infection was tested as positive in 84 (96.5%) patients. Also, 51 (58.6%) patients had an epidemiological contact to a person with COVID-19. Eighteen patients met the clinical criteria and diagnosed with MIS-C. The COVID-19 outbreak also caused exacerbation of systemic disease in 56 children due to medication cessation, postponed drug switch, or recurrent viral infection. CONCLUSION: Children with rheumatic disease do not appear to present a higher risk of severe COVID-19. The immunosuppressive treatments can be adjusted in case of infection; otherwise, it is not recommended to interrupt the treatments. Physicians should be cautious about the hyperinflammatory syndrome associated with COVID-19 in rheumatic children, which may be severe in this group of patients and may be confused with primary diseases.

Neutrophil-to-lymphocyte and Platelet-to-lymphocyte Ratios in those with Pulmonary Embolism in the Course of Coronavirus Disease 2019.

BACKGROUND: To investigate the levels of neutrophil-to-lymphocyte (NLR) and platelet-to-lymphocyte (PLR) ratios in those having a pulmonary embolism (PE) in the course of coronavirus disease 2019 (COVID-19). METHODS: The records of those having COVID-19 were retrospectively obtained from the hospital automation system. NLR and PLR were measured with the help of patients' blood cell counts. RESULTS: Of 1,452 COVID-19 patients, 17 (1.2%) were diagnosed with PE. Compared with the controls, while leukocyte (p = 0.001), neutrophil (p <0.001), and neutrophil percentages, (p = 0.001) and NLR (p <0.001) and PLR (p = 0.006) had higher values, lymphocyte count (p = 0.004) and lymphocyte percentage (p <0.001) showed lower values in the patients with PE.Compared to the survivors, the non-survivors were found to have increased leukocyte (p <0.001), neutrophil (p <0.001), and neutrophil percentages (p <0.001), NLR (p <0.001) and PLR (p <0.001), and decreased lymphocyte (p <0.001) counts and percentage (p <0.001), hemoglobin (p = 0.005), hematocrit (p = 0.012), and platelet counts (p <0.001).While NLR and PLR cutoffs were found as 4.338 and 187.83 in predicting PE, the cutoff values of NLR and PLR were, respectively, 4.301 and 172.5 in predicting mortality.The logistic regression analysis also revealed that all hematological parameters had no effects on the development of PE. CONCLUSION: Although NLR and PLR had higher scores in PE patients, no relationship was determined between the levels of NLR and PLR and PE development. Further prospective studies including larger populations are required to enlighten the increased NLR and PLR in PE patients having COVID-19. HOW TO CITE THIS ARTICLE: Akkus C, Yilmaz H, Duran R, Diker S, Celik S, Duran C. Neutrophil-to-lymphocyte and Platelet-to-lymphocyte Ratios in those with Pulmonary Embolism in the Course of Coronavirus Disease 2019. Indian J Crit Care Med 2021;25(10):1133-1136.

The clinical course and short-term health outcomes of multisystem inflammatory syndrome in children in the single pediatric rheumatology center.

OBJECTIVES: Multisystem inflammatory syndrome in children (MIS-C) is a rare but severe condition resulting in excessive response of the immune system after SARS-CoV-2 infection. We report a single-center cohort of children with MIS-C, describing the spectrum of presentation, therapies, clinical course, and short-term outcomes. METHODS: This is a prospective observational study from to a tertiary pediatric rheumatology center including patients (aged 1 month to 21 years) diagnosed with MIS-C between April 2020-April 2021. Demographic, clinical, laboratory results and follow-up data were collected through the electronic patient record system and analyzed. RESULTS: A total of 67 patients with MIS-C were included in the study. Fever was detected in all patients; gastrointestinal system symptoms were found in 67.2% of the patients, rash in 38.8%, conjunctivitis in 31.3%, hypotension in 26.9% myocarditis, and/or pericarditis in 22.4%, respectively. Respiratory symptoms were only in five patients (7.5%). Kawasaki Disease like presentation was found 37.3% of the patients. The mean duration of hospitalization was 11.8 7.07 days. Fifty-seven patients (85%) received intravenous immunoglobulin (IVIG), 45 (67%) received corticosteroids, 17 (25.3%) received anakinra, and one (1.5%) received tocilizumab. Seven of the patients (10.4%) underwent therapeutic plasma exchange (TPE). In 21 (31.3%) patients, a pediatric intensive care unit (PICU) was required in a median of 2 days. The first finding to improve was fever, while the first parameter to decrease was ferritin (median 6.5 days (IQR, 4-11.2 days)). Sixty-five patients were discharged home with a median duration of hospital stay of 10 days (IQR, 7-15 days). CONCLUSION: Patients with MIS-C may have severe cardiac findings and intensive care requirements in admission and hospital follow-up. The vast majority of these findings improve with effective treatment without any sequelae until discharge and in a short time in follow-up. Although the pathogenesis and treatment plan of the disease are partially elucidated, follow-up studies are needed in terms of long-term prognosis and relapse probabilities.

Acute rheumatic fever: 10-year single-center experience: clinical and laboratory findings, with subclinical carditis and treatment complications.

BACKGROUND: Acute rheumatic fever in childhood continues to cause serious morbidity despite all developments. The objective of this study was to evaluate the clinical and laboratory characteristics of patients with acute rheumatic fever and to determine the frequency of subclinical carditis and the side effects of the drugs used in the treatment. METHODS: The data of patients hospitalised between 2008 and 2018 with the diagnosis of acute rheumatic fever were included in the study. The relationship of gender and age with the frequency of major symptoms and the distribution of the drugs used in the treatment and their side effects were evaluated. RESULTS: Medical records of 102 patients with complete data were reviewed. 56.9% of the patients were male and the mean age was 10.7 ± 1.9 years. The most common distribution of complaints found were arthritis (51%), arthralgia (25.5%) and fever (16.7%). 10.8% of all patients (n = 11) were diagnosed subclinical carditis via echocardiographic evaluation. The frequency of carditis was higher in female patients with a borderline statistical significance (p = 0.05). However, there was no statistically significant difference between gender and arthritis (p = 0.22) and carditis (p > 0.05). Anti-congestive therapy was required in 22% and inotropic treatment was needed in 6.1% cases. Toxic hepatitis developed in four cases during the acetylsalicylic acid treatment. CONCLUSIONS: In a 10-year period, detection of subclinical carditis in 10.8% cases supported that echocardiography should be performed as a standard method for the diagnosis of acute rheumatic fever. Patients should be followed closely in terms of hepatic toxicity due to acetylsalicylic acid used in the treatment.

Evaluation of Pediatric Preseptal Cellulitis Cases Diagnosed with Meningitis by Magnetic Resonance Imaging.

Rhinosinusitis is a common infection and may rarely cause severe life-threatening orbital and intracranial complications. In this study, two cases with preseptal cellulitis and meningitis as a complication of rhinosinusitis were presented in the light of the literature. A nine years and two months old girl was admitted with complaints as fever, redness and swelling in the left eye. Physical examination revealed erythema and edema in the left lower and upper eyelids, and the eye movements were painless and normal in all directions. Her systemic examination was normal and there was no sign of meningeal irritation. Magnetic resonance imaging revealed ethmoid, frontal and sphenoid sinusitis and left cerebral hemisphere dural meningeal contrast enhancement. The patient was diagnosed with meningitis after lumbar puncture. After 14 days of appropriate antibiotic treatment, the patient recovered and was discharged. An eight years and five months old boy presented with fever, redness and swelling in the left eye was admitted. There were erythema and edema in the left lower and upper eyelid; the eye movements were painless in all directions and were complete. Systemic examination was normal; there was no sign of meningeal irritation. Pansinusitis and preseptal cellulitis findings were detected on computer tomography. The patient's fever persisted under treatment and erythema and edema of the eye became more evident. Orbital MRI was performed considering the complication and contrast enhancement was observed in the left frontal region. The patient was diagnosed with meningitis after lumbar puncture. After 14 days of appropriate antibiotic treatment, the patient recovered and was discharged. Intracranial complication due to preseptal sinusitis is rare but life-threatening. In these cases, we recommend the use of MRI as the radiological imaging method.

A rare structural myopathy: Nemaline myopathy.

Nemaline myopathy, which is characterized by the accumulation of ''rod'' bodies in muscle fibers is a very rare inherited muscle disease. According to the underlying mutation, the disease has varying severity of clinical outcomes. Patients with severe forms of the disease die because of hypotonia, feeding difficulties, aspiration pneumonia, and respiratory failure in the neonatal or infancy period. Mild forms of the disease present with walking-swallowing difficulties and respiratory distress in late childhood or adulthood. A two-and-a-half-month-old boy was monitored in our Pediatric Intensive Care Unit with hypotonia, pneumonia, and respiratory distress. Nemaline myopathy was diagnosed as the result of a muscle biopsy. An advanced molecular examination revealed heterozygous mutations in the skeletal muscle α-actin (ACTA1) gene, which is the second most common cause of this disease. Nemaline myopathy should be kept in mind in patients of all age groups with respiratory failure and walking difficulty secondary to muscle weakness.

Nemalin miyopatisi oldukça nadir görülen kalitimsal bir kas hastaligi olup kas liflerinde ''rod''(nemalin) cisimcigi birikimi ile tanimlanmaktadir. Hastalik altta yatan mutasyona ve mutasyonun kalitim biçimine göre degisen agirlikta klinik gidise sahiptir. Agir sekillerinde olgular yutma ve solunum kaslarinin etkilenmesi sonucu beslenme yetersizligi, aspirasyon pnömonisi ve solunum yetmezligi nedeni ile yenidogan ya da süt çocuklugu döneminde kaybedilmektedir. Geç baslangiçli hafif olgular yasam kalitesini bozan yürüme-yutma zorlugu ve solunum sikintisi ile geç çocukluk ya da eriskin yasta bulgu verebilmektedir. Hipotoni, pnömoni ve solunum sikintisi ile Çocuk Yogun Bakim Birimi'nde izlenen iki buçuk aylik erkek bebege kas biyopsisi sonucu nemalin miyopatisi tanisi koyuldu. Ileri moleküler inceleme sonucu hastaligin ikinci en sik nedeni olan "Skeletal Muscle α-Actin" (ACTA1) geninde heterozigot mutasyon saptandi. Yenidogan döneminden eriskin döneme kadar kas güçsüzlügüne bagli solunum yetmezligi ve yutma-yürüme güçlügü varliginda yapisal miyopatiler içinde nemalin miyopatisi akilda bulundurulmali, süphenilen olgulara kas biyopsisi ya/ya da genetik inceleme yapilmalidir.

Acute Hemorrhagic Edema of Infancy: A Two-Case Report.

Acute hemorrhagic edema of infancy is a leukocytoclastic small vessel vasculitis of young children that is limited to the skin, generally has a benign course without systemic involvement, and does not require treatment. It is characterized by fever, edema of the lower extremities, and wide purpuric rash of the skin. It typically affects infants aged 6-24 months with a history of recent respiratory system illness. An 11-month-old and a 57-month-old cases with acute hemorrhagic edema of infancy who concurrently have a lower respiratory system infection are presented in this case report.