Coronavirus Disease 2019 (COVID-19) seems to affect children only marginally, as a result, there is less knowledge of its manifestations in childhood. The purpose of this retrospective ...cross-sectional study was to investigate the oral and cutaneous manifestations in children affected by COVID-19.
All the medical records of children with COVID-19 admitted to the Pediatric Clinic- ASST Spedali Civili of Brescia from March to April 2020 were reviewed. The following data were recorded: age, temperature, clinical presentation, oral mucosa lesions, taste alteration and cutaneous lesions.
The medical records of twenty-seven pediatric patients (mean age 4,2 years + 1,7) were analyzed. The clinical presentation of the disease mainly included elevated body temperature and cough. The following oral lesions were recorded: oral pseudomembranous candidiasis (7.4 %), geographic tongue (3.7%), coated tongue (7.4 %) and hyperaemic pharynx (37 %). Taste alteration was reported by 3 patients. Six patients presented cutaneous flat papular lesions.
As for our paediatric sample, COVID-19 resulted to be associated with non-specific oral and cutaneous manifestations.
This study provides evidence for the first time for APDS-1 presenting as MAS/HLH, with evident clinical implications in patient's management and prognosis.
•APDS-1 may present with MAS/HLH ...features.•MAS/HLH of undefined aetiology may benefit from additional immunological and functional evaluation.
Purpose
Selective IgA deficiency (SIgAD) is the most common humoral primary immunodeficiency. Long-term follow-up data in large cohort of pediatric patients are scarce.
Methods
We report on a ...single-center cohort of 184 pediatric patients affected with selective IgA deficiency and describe the characteristics at diagnosis and during follow-up.
Results
Respiratory infections were the most common clinical finding leading to the initial diagnosis (62%). Positive family history for antibody deficiencies (selective IgA deficiency, common variable immunodeficiency) led to SIgAD diagnosis in 16% of cases. During follow-up, while the incidence of respiratory infections was not particularly high, gastrointestinal symptoms were reported in 27% of patients. Allergic manifestations were found in 23% at diagnosis and an additional 16% of patients during follow-up, leading to a prevalence of atopy of 39% among SIgAD patients. Autoimmune manifestations, excluding celiac disease, were found in 9% of affected patients during follow-up. Celiac disease was found in a high prevalence (14%). Increase of serum IgA levels to partial deficiency (9%) and normal serum levels for age (4%) was observed during follow-up. A small percentage of patients (2%) progressed to common variable immunodeficiency (CVID).
Conclusions
In conclusion, this is the first study to describe a large single-center pediatric cohort of patients affected with SIgAD, revealing that overall most patients do well with regard to infections. Many develop CD, at a rate much higher than the general population. A few normalize their IgA levels. A few progress to CVID. Thus, careful follow-up is suggested to diagnose and treat potential complications earlier for avoiding potential morbidities.
To evaluate the actual impact of MEFV mutations on clinical manifestations associated with fever attacks in Caucasian children with periodic fever.
113 children carrying MEFV mutations (44 with ...mutations in two alleles, 69 heterozygous) and 205 children negative for mutations in genes associated with periodic fevers were analysed. The following groups of patients were considered: patients carrying two high penetrance mutations (M694V, M694I, M680I); one high, one low penetrance mutation; two low penetrance mutations; one high penetrance mutation; one low penetrance mutation; genetically negative patients.
Patients with two MEFV mutations displayed a shorter duration of fever attacks and higher prevalence of a positive family history than patients carrying one MEFV mutation and genetically negative patients. Severe abdominal pain, chest pain and pleurisy were also more frequent in patients with two MEFV mutations compared with children with one MEFV mutation and genetically negative patients. Conversely, a higher frequency of exudative and erythematous pharyngitis, enlargement of cervical lymph nodes, aphthous stomatitis and non-specific skin rash was observed in genetically negative patients and, to a lesser extent, in patients with one MEFV mutation. The frequency of 'familial Mediterranean fever (FMF)-like symptoms' decreases from patients carrying two high penetrance mutations towards patients with a single low penetrance mutation with an opposite trend for 'periodic fever, aphthous stomatitis, pharyngitis, adenitis-like symptoms'.
This clinical observation supports recent findings contrasting the notion of FMF being a pure autosomal recessive disorder associated with recurrence of mutations leading to loss of protein function. A dosage effect could be invoked, giving rise to symptom onset even in the presence of one wild-type allele.
Abstract Objectives The aim of the study was to evaluate the condylar and ramal asymmetry of the mandible in patients with juvenile idiopathic arthritis (JIA) using orthopantomographies (OPTs). ...Methods A total of 30 JIA patients with confirmed diagnosis of JIA and a routine OPT, seeking for orthodontic therapy, free of specific symptoms of temporomandibular joint involvement, and 30 normal matched subjects with OPT were comprised in the study. The method of Habets et al. was used to compare the condyles and rami in OPT. The significance of between-group differences were assessed using Mann–Whitney test. Results The results showed a high significant difference in the range of asymmetry of the condyle, being the patient group highly asymmetrical ( P < 0.0001). No differences were found in the range of asymmetry of the ramus between groups ( P = 0.47). The intra-group comparison between males and females showed a difference in the patient group ( P = 0.04), being the females more asymmetric. Conclusions Knowing that the temporomandibular joint (TMJ) is highly susceptible to inflammatory alterations during growth, even in absence of symptomatology, and being the OPT a cost–benefit favorable imaging tool widespread in the dental field, the latter could be used as a first screening examination in JIA patients to calculate the condylar asymmetry index. The use of this screening tool will help the physicians in addressing the patients that should undergo a more detailed TMJ imaging to early detect TMJ abnormalities and to early set up a targeted therapy of the related cranial growth alterations.
Abstract
We report a novel case of
SMARCD2
(SWI/SNF‐related, matrix‐associated, actin‐dependent regulator of chromatin, subfamily D, member 2) mutation successfully treated with hematopoietic stem ...cell transplantation. The female patient presented delayed cord separation, chronic diarrhea, skin abscesses, skeletal dysmorphisms, and neutropenia with specific granule deficiency. Analysis of the transcriptomic profile of peripheral blood sorted mature and immature SMARCD2 neutrophils showed defective maturation process that associated with altered expression of genes related to specific, azurophilic, and gelatinase granules, such as
LTF
,
CRISP3
,
PTX3
, and
CHI3L1
. These abnormalities account for the prevalence of immature neutrophils in the peripheral blood, impaired function, and deregulated inflammatory responses.
Recurrent lower respiratory tract infections caused by encapsulated bacteria might cause permanent organ damage in patients with common variable immunodeficiency (CVID). Despite the profound ...hypogammaglobulinemia, some patients do not experience bacterial pneumonia. We have shown that IgM memory B cells and natural antibodies play an important role in the defense against encapsulated bacteria.
In this study we addressed the question of whether the apparent paradox of patients with severe hypogammaglobulinemia but no increased frequency of respiratory infections can be explained by the presence of IgM memory B cells and anti-pneumococcal polysaccharide (anti-PnPS) IgM.
We measured the frequency of memory B cells and the levels of anti-PnPS IgM antibodies in 26 patients with CVID with recurrent bacterial pneumonia and bronchiectasis (group 1) and 22 who never had pneumonia and showed no lung lesions (group 2). An additional 6 patients had a clinical history of recurrent pneumonia without lung abnormalities at computed tomographic scanning.
Patients of group 1 lacked IgM memory B cells and failed to produce anti-PnPS IgM antibodies, and those of group 2 had a normal frequency of IgM memory B cells and produced anti-PnPS IgM antibodies.
IgM memory B cells and anti-PnPS IgM antibodies protect patients with CVID from bacterial pneumonia. Evaluation of these 2 parameters discriminates patients with low or high risk of recurrent infections caused by encapsulated bacteria and low or high risk of bronchiectasis. Identification of high-risk individuals at diagnosis might help in the planning of a more effective therapeutic strategy and prevent permanent organ damage
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