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Fusarium species are an emerging cause of onychomycosis, and the number of cases has dramatically increased in recent decades worldwide. This review presents an overview of the onychomycosis cases caused by Fusarium species and diagnosis and treatment that have been reported in the literature. The most common causative agent of onychomycosis is F. solani species complex, which accounts for 11.68% of the cases of Fusarium onychomycosis, followed by the F. oxysporum species complex (164 out of 1669), which is accounted for 9.83% of the total. F. fujikuroi species complex (42 out of 1669) and F. dimerum species complex (7 out of 1669) are responsible for 2.52% and 0.42 cases, respectively. Fusarium nail infections were reported in patients aged range 1-98, accounting for 5.55% (1669 out of 30082) of all cases. Asia has the highest species diversity of Fusarium onychomycosis (31.51%). South America accounts for 21.09%, and the most common causative agent is F. solani (19.32%), followed by F. oxysporum species complex (15.63%). Europe accounts for 4.90% of cases caused by F. oxysporum, followed by F. solani. Africa accounts for 23.87% of the cases due to the F. solani species complex, followed by F. oxysporum and F. fujikuroi. Distal and lateral subungual onychomycosis was the most common clinical symptom accounting for 58.7% (135 out of 230) of the cases. Data analysis relieved that terbinafine and itraconazole are active treatments for Fusarium onychomycosis. For a definitive diagnosis, combining of direct examination, culture and sequencing of the elongation factor of translation 1a are recommended. Accurate identification of the causative agents of onychomycosis due to Fusarium species and antifungal susceptibility testing is essential in patient management. [ABSTRACT FROM AUTHOR]

Inborn errors of immunity (IEI) comprise a group of about 490 genetic disorders that lead to aberrant functioning or the development of distinct immune system components. So far, a broad spectrum of IEI‐related manifestations has been noted in the literature. Due to overlapping signs and symptoms of IEI, physicians face challenges in appropriately diagnosing and managing affected individuals. The last decade has witnesses improving in the molecular diagnosis of IEI patients. As a result, it can be the mainstay of diagnostic algorithms, prognosis, and possibly therapeutic interventions in patients with IEI. Furthermore, reviewing IEI clinical complications demonstrates that the manifestations and severity of the symptoms depend on the involved gene that causes the disease and its penetrance. Although several diagnostic criteria have been used for IEI, not every patient can be explored in the same way. As a result of the failure to consider IEI diagnosis and the variety of diagnostic capabilities and laboratory facilities in different regions, undiagnosed patients are increasing. On the other hand, early diagnosis is an almost essential element in improving the quality of life in IEI patients. Since there is no appropriate guideline for IEI diagnosis in different organs, focusing on the clues in the patient's chief complaint and physical exams can help physicians narrow their differential diagnosis. This article aims to provide a practical guide for IEI diagnosis based on the involved organ. We hope to assist clinicians in keeping IEI diagnosis in mind and minimizing possible related complications due to delayed diagnosis. [ABSTRACT FROM AUTHOR]

Currently, many cases of mpox patients living with the human immunodeficiency virus (HIV) have been reported. Immunocompromised mpox patients, including those living with HIV are noted for an increased risk for severe symptoms; however, existing studies did not focus on the statistical comparison of mpox outcomes associated with HIV. Thus, we conducted a systematic review and meta‐analysis to evaluate and compare the clinical manifestations of mpox in people living with HIV (PLWH) and people without HIV. In this systematic review and meta‐analysis, PubMed/MEDLINE, Embase, and Google Scholar were searched up to March 7, 2023. A random effects model was used to calculate the pooled prevalence along with the 95% confidence intervals (CI), and the odds ratio and its corresponding 95% CIs were calculated to elucidate the significance of each clinical feature for mpox patients with and without HIV. In this study, we included 99 published papers with 2413 patients with mpox (median age, 35.5 years; PLWH n = 1151) from 27 countries across six continents. The odds ratio of the mpox outcomes with PLWH in comparison to patients without HIV was found to be significant for skin rash (1.24, 95% CI: 1.01–1.53), proctitis (2.03, 95% CI: 1.36–3.04), cough (0.57, 95% CI: 0.33–0.98), and diarrhea (3.85, 95% CI: 1.24–11.98). The odds ratio of mpox patients with HIV for historical infections of syphilis was 2.14 (95% CI: 1.38–3.32), compared with those without HIV. This is the first international and comprehensive study that performed a systematic review and meta‐analysis to statistically measure mpox manifestations according to HIV status. As clinical features related to mucosal contact were characteristically pronounced in PLWH, our systematic review provides insight that the primary invasion site of infection strongly relates to the outcomes of mpox. [ABSTRACT FROM AUTHOR]

Although vaccination is widely accepted as an effective method of preventing and controlling the COVID‐19 pandemic, many people are concerned about possible cutaneous side‐effects, which can delay or prevent them from being vaccinated. The objectives of this systematic review were to assess the global prevalence and clinical manifestations of cutaneous adverse reactions following COVID‐19 vaccination. PubMed and Scopus databases were searched for articles published from 1 January 2019 to 31 December 2021, and reference lists for each selected article were screened. Case reports, case series, observational studies and randomized controlled trials that provided information on cutaneous adverse reactions following COVID‐19 vaccines were included. A total of 300 studies were included in a systematic review of which 32 studies with 946 366 participants were included in the meta‐analysis. The pooled prevalence of cutaneous manifestations following COVID‐19 vaccination was 3.8% (95% CI, 2.7%–5.3%). COVID‐19 vaccines based on the mRNA platform had a higher prevalence than other platforms at 6.9% (95% CI, 3.8%–12.3%). Various cutaneous manifestations have been reported from injection site reactions, which were the most common (72.16%) to uncommon adverse reactions such as delayed inflammatory reactions to tissue filler (0.07%) and flares of pre‐existing dermatoses (0.07%). Severe cutaneous reactions such as anaphylaxis have also been reported, but in rare cases (0.05%). In conclusion, cutaneous adverse reactions are common, especially in those receiving mRNA vaccines. Most reactions are mild and are not contraindications to subsequent vaccination except for anaphylaxis, which rarely occurs. COVID‐19 vaccination may also be associated with flares of pre‐existing dermatoses and delayed inflammatory reactions to tissue filler. Patients with a history of allergies, pre‐existing skin conditions or scheduled for filler injections should receive additional precounselling and monitoring. A better understanding of potential side‐effects may strengthen public confidence in those wary of new vaccine technologies. [ABSTRACT FROM AUTHOR]

Behçet's disease (BD), a chronic multi‐systemic disorder, presents diverse clinical manifestations depending on patient ethnicity and geographic region. Use of varying diagnostic criteria augments clinical heterogeneity. We aimed to characterize heterogenous manifestations in patients with full‐blown BD fulfilling the major diagnostic criteria in use. We retrospectively analyzed 338 patients diagnosed with complete BD based on Japanese diagnostic criteria, which fulfill both International Study Group (ISG) criteria and the International Criteria for BD (ICBD). Unbiased clustering analysis was performed to elucidate the heterogeneous spectrum, followed by subgroup analysis of identified clusters. Results of unbiased clustering analysis identify dominant skin lesion type as an important factor that determines clustering among the heterogenous BD patients. Regression analysis reveals that presence of predominantly papulopustular lesions has protective effect for vascular involvement compared to other skin phenotypes. In conclusion, unbiased clustering analysis highlights that dermatologic manifestation can be a factor to understand the heterogeneity of BD and determining the dominant type of skin lesions may help clinicians predict major vascular involvement. [ABSTRACT FROM AUTHOR]

Adoptive cell therapy (ACT), including tumor‐infiltrating lymphocytes (TILs), T cell receptor engineered T cell (TCR‐T), and chimeric antigen receptor engineered T cell (CAR‐T), has shown significant clinical benefits for cancer treatment. However, all of these ACT therapies are associated with toxicities from mild to life threatening in clinic. Common ACT‐related toxicities include cytokine release syndrome (CRS) resulting from immune activation, neurological toxicity, on‐target/off tumor or off‐target toxicities, and toxicities associated with lymphodepletion preconditioning and high does IL‐2 administration. This review summarizes clinical manifestations of adverse events associated with ACT treatment and discusses the underlying pathological mechanisms. Moreover, challenges and opportunities of managing ACT‐related toxicities have been discussed to give an indication of how to improve the safety of ACT treatment without dampening the therapeutic effect. This review summarizes the clinical manifestations and pathological mechanisms of ACT‐related toxicities including CRS, neurological toxicity, on‐target/off tumor toxicity, off‐target toxicity, high does IL‐2–related toxicity and lymphodepletion‐related toxicity. Moreover, the opportunities to reduce ACT‐related toxicities are discussed, such as better toxicity management, improving design of TCR‐T/CAR‐T construct, identifying tumor specific antigens, and optimizing preconditioning strategies. [ABSTRACT FROM AUTHOR]

Background: The clinical features and outcomes of subacute sclerosing panencephalitis (SSPE) in younger children are different from those of adults, leading easily to misdiagnosis during the early stage. So far, there are limited data related to SSPE in preschool children. Methods: In order to summarize the clinical data and evolution of SSPE in preschool children and to expand the phenotypes of SSPE, the medical charts of preschool patients diagnosed with SSPE were retrospectively reviewed and analyzed; the clinical outcomes of the enrolled cases were evaluated and followed up. Results: Overall, we included three cases in the study. Their onset age was 5 years and 2 months, 4 years and 3 months, and 4 years and 2 months, respectively. All patients presented drop attacks or jerks as the onset symptom, and one patient had concurrent gait disturbance. Atypical periodic complexes on electroencephalography (EEG) were recorded in all patients. The brain magnetic resonance imaging (MRI) findings of two cases showed demyelinating lesions predominantly on the white matter. The neurological conditions of all cases deteriorated rapidly. Two children died at 21 months and 6 months after onset, respectively. The other case progressively developed vegetative status and akinetic mutism within 4 months. Conclusions: In younger children, the characteristic features of SSPE may be seizures and gait instability as onset manifestations, atypical periodic complexes on EEG, and rapid worsening of neurological conditions. [ABSTRACT FROM AUTHOR]

Background: COVID‐19 has been spreading worldwide with a significant death toll. Solid‐organ transplantation (SOT) recipients are at higher risk due to their suppressed immune system. In this study, we aimed to conduct a systematic review on COVID‐19 clinical manifestations and treatment strategies in SOT recipients. Methods: We searched three databases for relevant terms related to COVID‐19 and transplantation. 50 studies, including 337 patients, were reviewed. Results: Two hundred thirty six patients were male, with a mean age of 49.9 years. The most prevalent group was the kidney 57.0%, followed by 17.2% heart and 13.6% liver. Fever and cough were the most reported clinical presentations. Infiltration (55.4%) in chest x‐ray and ground‐glass opacity (67.1%) in CT scans were the most radiological findings. It was found that 96.8% and 72.4% of patients present with CRP level and lymphocytopenia, respectively, and 70.6% of kidney recipients patients presented with high creatinine levels. The most common baseline immunosuppressants were calcineurin inhibitors (88.9%) and antimetabolites (73.2%). Antimetabolites (84.3%) and calcineurin inhibitors (54.3%) were discontinued/decreased 84.3% whereas glucocorticoids dosage almost has no change (77.9%) or even increased. 18.4% of cases had died, and 65.9% were discharged. Conclusions: Patients' demographics, signs, symptoms, and radiographic findings in SOT recipients are almost similar to the general population. However, gastrointestinal symptoms appear to be more common. There are different treatment strategies, but in most of them, antimetabolite and calcineurin inhibitors were decreased or discontinued, while corticosteroids were increased. Finally, COVID‐19 seems to be more severe and has higher mortality in SOT recipients compared to the general population. [ABSTRACT FROM AUTHOR]

Parechoviruses are emerging pathogens of humans often affecting the pediatric age group, with a growing line of evidence implicating them as agents of a broad spectrum of clinical syndromes in adults. However, because many clinicians are not familiar with the manifestation of the infections, they are not included in the list of diagnostic pathogens. Furthermore, due to the indistinguishable feature of the infection compared with other common pathogens, a large number of cases are likely to go unchecked. Some may develop asymptomatic infection and recover without overt clinical disease. In this manuscript, we reviewed available literature on parechovirus infection in adult and summarized information relating to epidemiology, clinical manifestation, laboratory diagnosis, and therapeutics. The information provided should help in early case detection and support an evidence‐based clinical decision. Highlights: Human parechoviruses have been the etiologic agents of many clinical syndromes in children, and are increasingly recognized as agents of various illnesses in adults. However, since they are not included in the list of priority pathogens in most clinical settings, they are only rarely considered when the list of other common pathogens is exhausted. This, coupled with nonspecific clinical presentation makes it difficult to make the diagnosis, and many cases go undiagnosed, while some develop complications. In this article, we reviewed the literature on parechovirus infection in adults to help early case detection in the clinical setting and guides epidemiological studies. [ABSTRACT FROM AUTHOR]

Introduction: Congenital fibrinogen disorders (CFDs) comprise the quantitative and qualitative fibrinogen molecule abnormalities that are caused by fibrinogen gene mutations. The objective of this cohort research was to study the molecular and clinical profiles of patients with CFDs. Materials and methods: Genomic DNA Sanger sequencing of 14 Iranian patients was performed to determine CFDs‐causing mutations. The disorders were diagnosed by routine and specific (fibrinogen antigen and functional assay) coagulation tests, and clinical data were obtained from medical records. Molecular dynamics (MD) simulations were performed to investigate the effect of missense mutation on the protein structure. Results: Thirteen out of 14 patients had afibrinogenemia while the remaining patient had dysfibrinogenemia. Umbilical cord bleeding was the most common clinical presentation (n: 9, ~70%) which led to the diagnosis of afibrinogenemia, while menorrhagia led to the diagnosis of dysfibrinogenemia. Six homozygous mutations were identified in afibrinogenemia: three previously described variants in FGA (p.Trp52Ter, p.Ser312AlafsTer109 and p.Gly316GlufsTer105), one in FBG (p.Gly430Asp), and two novel mutations in FGB (p.Gly430Arg) and FGG (p.His366ThrfsTer40), while the FGA (p.Arg38Thr) heterozygous mutation was identified in dysfibrinogenemia. MD simulation indicated that the FGA p. Arg38Thr mutation probably interferes with polymerization of fibrin monomers. Conclusions: In Iran, with its high rate of consanguinity, autosomal recessive afibrinogenemia with severe clinical presentations is relatively common due to heterogeneous molecular defects. [ABSTRACT FROM AUTHOR]

Although biologics for plaque psoriasis brought epoch‐making efficacy, not all patients achieve treatment success with all reagents. The aim of this study was to clarify the correlation between clinical plaque psoriasis subtypes, age at onset, and the efficacy of biologics. Clinical records for patients with plaque psoriasis at Fukuoka University Hospital were reviewed retrospectively. The efficacy of biologics was compared using the survival of the first biologics administered in treatment‐naïve patients. The survival of infliximab, adalimumab, and ustekinumab were followed until December 2016. The patients were clinically classified into three subtypes: small, large, or gigantic plaques using the size of the plaques on the back; early onset psoriasis (EOP, onset <40 years); or late‐onset psoriasis (LOP, ≥40 years). Eighty‐seven patients were enrolled. The survival of biologics was significantly better in large plaques compared with small or gigantic plaques (P = 0.0007). In patients treated with tumor necrosis factor (TNF) inhibitors, large plaques had significantly better survival than did the other types (P = 0.0122), while ustekinumab showed good survival in all three subtypes. The survival of biologics was numerically better in EOP than in LOP, but this was not significant. The efficacy of TNF inhibitors was different among clinical subtypes. Psoriatic patients with small plaques may be less responsive to TNF inhibitors. Further studies are needed. [ABSTRACT FROM AUTHOR]

Background: Acute epiglottitis is a potentially life-threatening condition, but its clinical manifestations are usually nonspecific. Objectives: We investigated the clinical differences between patients with and those without acute epiglottitis and identified the risk factors of patients with acute epiglottitis who may develop airway compromise. Methods: We studied patients suspected of having acute epiglottitis in the emergency department. All patients received fibre-optic laryngoscopy performed by an otorhinolaryngologist and were subsequently divided into two groups: patients with acute epiglottitis and those without. Results: Of the 311 adult patients, 108 were diagnosed with acute epiglottitis. In the nonepiglottitis group, more complaints of fever (p < 0.001), cough (p < 0.001), and rhinorrhoea (p = 0.048) and more systemic comorbidities were reported. People with acute epiglottitis generally had a higher prevalence of head and neck tumours (p = 0.015), odynophagia (p = 0.037) and an elevated white blood cell level (p < 0.001). The proportion of patients with cardiovascular disease (p = 0.014) or diabetes mellitus (p = 0.019), drooling (p = 0.026) or sore throat (p = 0.042), a high respiratory rate (p = 0.009), an elevated white blood cell level (p = 0.002) and a higher C-reactive protein level (p = 0.005) was higher among those who required airway intervention. Conclusion: Clinical manifestations alone were insufficiently reliable for diagnosing acute epiglottitis but could predict disease severity. Laryngoscopy should be performed as soon as possible once a patient is suspected of having acute epiglottitis. [ABSTRACT FROM AUTHOR]

Background: We investigated the epidemiology and clinical course of children with respiratory syncytial virus (RSV)‐associated encephalopathy. Methods: We retrospectively collected data for 280 patients from a questionnaire survey of acute encephalitis/encephalopathy (AE/E) in Fukushima Prefecture. We enrolled six patients diagnosed with RSV‐associated encephalopathy from these 280 patients, and retrospectively investigated the clinical features and prognosis. Results: Six (2.1%) of the 280 patients with AE/E were found to have RSV‐associated encephalopathy. The age at onset and male‐to‐female ratio were 1.3 ± 0.5 years and 2:4, respectively. The mean duration of fever and the duration of loss of consciousness were 3.7 ± 1.5 days (range, 2–6 days), and 3.3 ± 2.3 days (range, 2–8 days), respectively. Four patients had leukocytosis and two patients had high serum C‐reactive protein. On admission, one child presented with normal renal and hepatic function, but, high serum ferritin, renal and hepatic dysfunction, and disseminated intravascular coagulation were observed along with progressive multiple organ failure, with the patient dying on the second day of hospitalization. On computed tomography of the brain, five patients had brain edema and one patient had a low‐density area. Two of the six children had sequelae while three children had no sequelae. Conclusions: The incidence of RSV‐associated encephalopathy in all AE/E patients was 2.1% Given that half of the children with RSV‐associated encephalopathy had sequelae or death, the prognosis for RSV‐associated encephalopathy is not particularly good and it is necessary to pay careful attention to patients with RSV‐associated encephalopathy. [ABSTRACT FROM AUTHOR]

Chronic cerebral circulation insufficiency ( CCCI) may not be an independent disease; rather, it is a pervasive state of long-term cerebral blood flow insufficiency caused by a variety of etiologies, and considered to be associated with either occurrence or recurrence of ischemic stroke, vascular cognitive impairment, and development of vascular dementia, resulting in disability and mortality worldwide. This review summarizes the features and recent progress of CCCI, mainly focusing on epidemiology, experimental research, pathophysiology, etiology, clinical manifestations, imaging presentation, diagnosis, and potential therapeutic regimens. Some research directions are briefly discussed as well. [ABSTRACT FROM AUTHOR]

We investigated the clinical phenotypes and genetic mutations in Chinese children diagnosed with tuberous sclerosis complex ( TSC). Sequencing of TSC1 and TSC2 genes was performed in 117 children with TSC and their parents. Association of TSC gene mutations with clinical manifestations was investigated. All gene mutations were heterozygous including in 16 patients (13.7%) with mutations in TSC1 gene and 101 patients (86.3%) with mutations in TSC2 gene. Among the 16 patients with TSC1 gene mutations, 15 different types of mutations were found, which included 5 novel mutations; all patients had skin manifestations and epilepsy. Among the 101 patients with TSC2 mutations, 85 different types of mutations were found, which included 25 novel mutations; 97 patients (96.0%) had skin manifestations; 97 (96.0%) had epilepsy; 74 (73.3%) had intellectual disability and 25 patients (24.8%) were autistic. The clinical phenotype of the 14 children with familial TSC was more severe than that of their parents. [ABSTRACT FROM AUTHOR]

Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females. We summarized the clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. We screened for PCDH19 mutations in 75 girls diagnosed with Dravet syndrome ( DS) without a SCN1A mutation and 29 girls with fever-sensitive and cluster seizures. We identified 11 novel and 7 reported mutations in 21 of 104 probands (20.2%), including 6 (6/75, 8%) DS girls and 15 (15/29, 51.7%) girls with fever-sensitive epilepsy. The mutations were inherited in 9 probands, de novo in 11, and undetermined in the remaining patient. Shared clinical features included early onset seizures (5-18 months), seizures sensitive to fever, focal seizures or generalized tonic-clonic seizures in clusters and brief seizures. Mental retardation was present in 17 probands. Three patients had autistic features. Two of the nine probands with inherited mutations had no family history of epilepsy, one inherited the mutation from her transmitting father and the other inherited from her asymptomatic mother. Our results confirmed that the clinical spectrum of PCDH19 mutations includes female DS patients, epilepsy and mental retardation limited to females, epilepsy with normal development and asymptomatic female carriers. [ABSTRACT FROM AUTHOR]

Background We examined the epidemiology, clinical manifestations, and prognosis of pediatric systemic lupus erythematosus ( SLE) in Fukushima Prefecture, Japan over a 35 year period. Methods We collected the medical records of 37 patients diagnosed with SLE between 1977 and 2013. These children were divided into two groups. group 1 consisted of 19 patients who were diagnosed between 1977 and 1995, and group 2 consisted of 18 patients diagnosed between 1996 and 2013. The epidemiology, clinical features, and prognosis were retrospectively compared between the two groups. Results The mean number of patients per 100 000 children per year for group 1 and group 2 was 0.33 ± 0.25 and 0.35 ± 0.30, respectively. The duration from onset of symptoms to treatment in group 2 was shorter than that in group 1, but the clinical and laboratory findings at onset did not differ between the two groups. All patients were treated with prednisolone, and 17 patients in group 1 and 18 in group 2 were treated with methylprednisolone pulse therapy. The frequency of cyclophosphamide treatment decreased whereas the frequency of cyclosporine, tacrolimus and mizoribine pulse therapy increased in group 2. SLE disease activity index (SLEDAI) score at the latest follow up in group 2 was lower in group 1. The survival rate was 84% in group 1 and 100% in group 2. Conclusion The frequency and severity of SLE in group 1 were similar to those in group 2, and the prognosis of SLE in group 2 was better than that in group 1. [ABSTRACT FROM AUTHOR]

Background Brucellosis is the most common zoonotic disease worldwide and remains an important human disease especially in developing countries. The aim of the present study was to evaluate clinical manifestations and laboratory findings of childhood brucellosis in Van province of Eastern Turkey. To our knowledge, this is the largest series of childhood brucellosis reported in the literature. Methods In this retrospective study, 496 children with brucellosis were assessed for the clinical manifestations and laboratory findings from July 2009 through December 2013. The diagnosis of brucellosis was based on clinical findings and a standard tube agglutination test (titer ≥1:160). Data were analyzed using Minitab version 16. Results The study included 496 children (boys, 60.5%) with a mean age of 10.0 ± 3.95 years (range, 1-16 years). The most frequent clinical symptoms were arthralgia (46.2%), fever (32.1%), and abdominal pain (17.1%) and the most common clinical signs were peripheral arthritis (10.1%), splenomegaly (2.2%) and hepatomegaly (1.8%). The most contagious seasons were summer and autumn (63.3%). Elevated lactate dehydrogenase and C-reactive protein and erythrocyte sedimentation rate were reported in 63.1%, 58.7%, and 55.2% of the patients, respectively. Anemia (20.4%), thrombocytopenia (15.5%), and leukopenia (12.1%) were the most common hematologic findings. Conclusions Brucellosis remains a serious public health problem in Turkey. The clinical and laboratory characteristics of childhood brucellosis have been described in order to assist clinicians in diagnosing and monitoring the disease. [ABSTRACT FROM AUTHOR]

Background The aim of this study was to analyze and compare the epidemiological and presenting features, clinical patterns, and complications of celiac disease ( CD) in children. Methods The clinical charts of children with CD were retrospectively analyzed. Data for children who presented during the first time period ( January 2005- October 2008; group 1) were compared to those of children who presented during the second time period ( November 2008- April 2012; group 2). Results Group 1 and 2 consisted of 96 and 95 children, respectively. There were no differences in gender distribution, weight, or height z-scores between the two groups. Mean age at the time of diagnosis in group 2 (9.3 ± 4.5 years) was significantly higher than in group 1 (6.9 ± 3.9 years; P < 0.001). Non-classical presentation was more frequent in group 2 ( P = 0.01). Associated disorders were observed in 49 children (25.7%) overall. There were significantly more children with type 1 diabetes mellitus in group 2 ( P = 0.030). In all, 11 patients (5.8%) were overweight (either obese or at risk of obesity) at presentation. Isolated short stature was the presenting feature in 15 children (7.9%) overall, but was more frequently observed in group 2 ( P = 0.003). In total, 15 patients (7.9%) presented with refractory iron deficiency anemia; the frequency was similar in both groups. Dual-energy X-ray absorptiometry was performed in 102 patients, and 82 (80.4%) had metabolic bone disease ( MBD). Conclusion The mode of presentation and clinical features of CD in childhood continue to change. Of note, a substantial percentage of patients were overweight at presentation. MBD is a frequent complication, necessitating routine evaluation. [ABSTRACT FROM AUTHOR]

Aim: To describe the clinical manifestations, disease activity and organ damage in Korean patients with systemic lupus erythematosus (SLE). Method: American College of Rheumatology (ACR) criteria, SLE Disease Activity Index (SLEDAI), and Systemic Lupus International Collaborating Clinics/ACR damage index (SDI) were assessed in patients with SLE from 1998 to 2012. Results: A total of 996 SLE patients were analyzed. The common accrual of ACR criteria included: immunologic (93%), hematologic (93%), arthritic (66%) and nephritic (50%). In the inception cohort over 10 years of follow- up (n = 120), the number of ACR criteria increased significantly (5.0 ± 1.2 to 5.7 ± 1.3), and nephritis, serositis and neuropsychiatric symptoms tended to increase continuously over time. SLEDAI-2K decreased significantly (5.6 ± 3.4 to 4.1 ± 1.2), but the percentage of patients with SLEDAI scores ≥ 12 did not decrease over time. The common organ damages were musculoskeletal (14.9%) and renal (11.1%). The mean SDI score increased significantly (0.4 ± 0.8 to 1.1 ± 1.6) and renal damage had two peaks in 1 and 6-10 years, musculoskeletal and neuropsychiatric damage were predominant from 1 to 5 years, and ophthalmic damage increased sharply over 10 years. Conclusion: Compared to other Asian cohorts, disease activity was lower and organ damage was less in our Korean cohort. Nephritis, serositis and neuropsychiatric symptoms increased continuously over time. Overall disease activity decreased significantly, but a small portion of severe disease activity continued during the disease course. The most common organ damage was musculoskeletal. The time in organ damage development varied, which reflects the possible causality, such as disease itself and/or treatment. [ABSTRACT FROM AUTHOR]

Background Localized aggressive periodontitis ( LAgP) is an infectious periodontal disease which generally affects young people. Recent data suggest the involvement of different bacterial species in different populations. The causative bacterial species in Israel has never been identified despite a high prevalence of LAgP in this population. The objectives of this study were to characterize the bacterial microbiota of periodontal pockets within an Israeli LAgP population who were also clinically assessed. Methods Twenty-one LAgP patients (test) and 12 chronic periodontitis patients (control) were examined. Bacterial samples were collected from periodontal pockets and analysed by both culture and polymerase chain reaction techniques. Mann-Whitney U test and chi-square test were used to compare results between the groups. Results Higher levels of Parvimonas micra (>106), Aggregatibacter actinomycetemcomitans (>105), Fusobacterium nucleatum/F. periodonticum (>106), and Tannerella forsythia (levels of 105 to 106 bacteria) were detected in the LAgP group compared to the control (p < 0.05), while levels of Porphyromonas gingivalis and Prevotella intermedia were higher in the CP group. Conclusions The characteristic periodontal bacterial flora of LAgP patients in Israel is mainly comprised of P. micra, A. actinomycetemcomitans, F. nucleatum/F. periodonticum and T. forsythia. Similar population based studies of each population will improve the quality of treatment of LAgP when individual sampling is not possible. [ABSTRACT FROM AUTHOR]

Background Prolactinomas are the most common hormone-secreting pituitary tumours and are amenable to medical therapy with dopamine agonists. Indication for treatment will most commonly result from hypogonadism, infertility or symptoms related to tumour size. Thus, both diagnosis and treatment will essentially depend on the patients' stage of life, namely prepubertal, reproductive or postreproductive stage. This review will focus on a lifespan-dependent diagnosis and treatment for prolactinoma and hyperprolactinaemia. Methods PubMed, the Cochrane Library, the Web of Science and EMBASE were searched electronically. No restriction was made with respect to language. Relevant current articles will be included in this review. Results Prevalence of prolactinomas and clinical symptoms are age group-specific, and treatment of first choice is dopamine agonists over the whole lifespan. Open questions in the treatment for hyperprolactinaemia include optimal choice and duration of pharmacological treatment. In addition, concerns have been raised on the safety of dopamine agonists since a reported association of valvular heart disease with dopaminergic treatment in patients with Parkinson's disease. Conclusions Clinical presentation and consequences of hyperprolactinaemia and prolactinoma will differ in the specific stages of reproductive life and require an adequate lifetime-dependent diagnostic and therapeutic approach. [ABSTRACT FROM AUTHOR]

Dystonia is defined as the presence of sustained involuntary muscle contractions, often leading to abnormal posture and movement. DYT1 is caused by a mutation in the TOR1A gene, whilst mutations in THAP1 gene have been identified as responsible for DYT6. The relative frequency and phenotype differences between DYT1 and DYT6 amongst Chinese primary dystonia patients have not been well-characterized. One hundred eleven unrelated Chinese patients with primary dystonia were screened for mutations in TOR1A and THAP1 genes, and correlate this with clinical presentation. Exon 5 of TOR1A and all three exons and exon-intron conjunctions in THAP1 were screened by direct sequencing. Three subjects were found to have the GAG deletion in the TOR1A gene, and two patients were detected with THAP1 gene mutations/variations (c.224A>T, c.449A>C). The overall mutation frequency was 4.5% in this cohort with TOR1A mutations found in 2.7% and THAP1 mutations found in 1.8%. No mutations were detected in the controls composed of 100 normal Chinese subjects. The clinical presentations of the DYT1 cases included onset in the limbs that could progress to the generalized dystonia within several years but without cranial involvement. Whilst in the DYT6 cases, the onset was cranial or cervical and progresses very slowly. The major clinical differences between DYT1 and DYT6 dystonia in China were the cranial involvement in DYT6 and progress to general dystonia within several years in DYT1. [ABSTRACT FROM AUTHOR]

Gao L, Díaz-Corrales FJ, Carrillo F, Díaz-Martín J, Caceres-Redondo MT, Carballo M, Palomino A, López-Barneo J, Mir P. Brain-derived neurotrophic factor G196A polymorphism and clinical features in Parkinson’s disease. Acta Neurol Scand: 2010: 122: 41–45. © 2010 The Authors Journal compilation © 2010 Blackwell Munksgaard. Objectives –  Parkinson’s disease (PD) is characterized by the dopaminergic neuronal death in substantia nigra, and genetic factors appear to be involved in the pathophysiology of this disease. Brain-derived neurotrophic factor (BDNF) is widely expressed in the central nervous system and is necessary for the survival of dopaminergic neurons in substantia nigra. G196A, a common polymorphism of the BDNF gene, not only affects cognitive and motor processes, but also is associated with various psychiatric disorders. We evaluated whether G196A polymorphism is associated with PD and/or modifies clinical manifestations in PD patients. Methods –  We included 193 PD patients and 300 control subjects. G196A polymorphism was screened by restriction fragment length polymorphism analysis. Clinical features of each patient were examined in detail. The possible association between genotype and clinical characteristics were determined by bivariate and multivariate analyses. Results –  The distribution of G196A allele and genotype frequency was similar between PD and control subjects. Clinical characteristics, including Hoehn-Yahr stage, motor symptoms, non-motor symptoms (depression, cognitive dysfunction, psychiatric dysfunctions, and sleep behavior disorder), and dyskinesias, were not associated with this polymorphism. Conclusions –  G196A polymorphism is not a risk factor for PD and does not seem to modify clinical features in PD patients studied here. [ABSTRACT FROM AUTHOR]

Background: Despite beneficial effects of conjugated linoleic acids (CLAs) in animal studies, there is little information on their effects on human inflammatory and autoimmune diseases. Aim: To investigate the effects of CLAs as an adjuvant therapy on the clinical manifestations of rheumatoid arthritis (RA) in adults with an active disease. Methods: In a randomized, double-blind placebo-controlled trial, 87 patients with active RA were divided into four groups receiving one of the following daily supplements for 3 months: group C: CLAs 2.5 g equivalent to 2 g mixture of cis 9-trans 11 and trans 10-cis12 CLAs at a rate of 50/50; group E: vitamin E: 400 mg; group CE: CLAs and vitamin E at above doses; group P: placebo. Serum α-tocopherol was determined by high-performance liquid chromatography. Clinical data was determined by physician examination and filling the questionnaire by interview. Complete blood count (CBC), erythrocyte sedimentation rate (ESR), C-Reactive protein (CRP) and rheumatoid factor (RF) were measured in each patient. DAS28 (diseases activity score) was also determined. Results: A 3-month supplementation resulted significant reduction in DAS28, pain and morning stiffness in the groups C and CE compared with group P ( P < 0.05). Compared with the baseline, ESR levels decreased significantly in the groups C ( P ≤ 0.05), E ( P ≤ 0.05) and CE ( P ≤ 0.001). Group CE had significantly lower ESR levels than group P ( P ≤ 0.05). CRP dropped non-significantly in all four groups ( P > 0.1). The reduction of white blood cell count was significant in group CE compared with other groups ( P < 0.05). Decrease in platelet count was non-significant in groups CE, C, and E. Changes in RF, body mass index, red blood cell count and hemoglobin were not significant in four groups, while RF decreased non-significantly in groups CE and E. In comparison with the baseline, α-tocopherol increased significantly in groups C ( P ≤ 0.05), E ( P ≤ 0.01) and CE ( P ≤ 0.001) and in groups E and CE compared with group P. Conclusion: CLA supplementation resulted in significant improvement in clinical manifestation among RA patients and may be useful in their treatments. [ABSTRACT FROM AUTHOR]

Inflammatory bowel disease (IBD) is very common in developed countries, while it is relatively uncommon in Asian countries. However, the incidence of IBD has been increasing in some Asian countries in recent years. Most cases of ulcerative colitis (UC) in Asia are of the chronic relapsing type, run a milder course, and the fulminant type is rarely seen. There is no difference in clinical manifestations between Asian and developed countries. The incidence of Crohn's Disease (CD) is mainly in males in Asia, while it is mainly in females in developed countries. The clinical manifestations of CD are similar between both sets of countries. In China there are less fistulae and perianal diseases, and extraintestinal manifestations of CD are uncommon. In China, 5.6% of patients with UC have a family history, which is lower than 10–20% in developed countries. NOD2/CARD15 variants in the locus of 16q112 (IBD1) are significantly associated with the susceptibility of CD in developed countries, but NOD2/CARD15 variants have not been found in Asian CD patients. [ABSTRACT FROM AUTHOR]

Allergy has at least two components – a genetic predisposition referred to as atopy and the progress from an atopic state to clinically apparent disease. Peripheral blood monocytes are circulating myeloid precursors of antigen-presenting cells. The expression of cell surface proteins on monocytes may therefore witness the disease status and affect the development of allergic disease. Monocytes were isolated from atopic individuals with seasonal allergic rhinitis ( n = 10), from atopic individuals sensitized to aeroallergens but without any signs of acute disease ( n = 11), and from healthy nonatopic donors ( n = 21). Detailed comparative phenotypic analysis of CD14+ and Fc ℇRI+CD14+ monocytes was performed by flow cytometry. CD14+ monocytes from symptomatic atopic donors showed a significant increase in the cell surface intensity of the integrin adhesion molecule CD11c over monocytes from asymptomatic atopic and nonatopic donors. Asymptomatic atopic individuals showed significantly enhanced expression of Fc ℇRI on the CD14highCD16dim monocyte subset compared with this subset from symptomatic atopic and nonatopic donors. The increase in monocyte surface intensity of the adhesion molecule CD11c may be involved in the manifestation of allergic disease. Fc ℇRI on CD14highCD16dim monocytes of asymptomatic atopic donors may be of functional importance for the maintenance of clinical unresponsiveness toward allergens. [ABSTRACT FROM AUTHOR]

The proposed route of Helicobacter pylori transmission appears to be fecal-oral, oral-oral and gastro-oral, yet, a number of studies challenged these hypotheses in 2003. The use of the stool antigen test and[13]-C urea breath testing were the tests of choice for diagnosis and ‘test for cure’ of H. pylori in Europe in 2003 but have not yet become accepted standard of care in North America. Pediatric H. pylori consensus guidelines are not yet revised; upper endoscopy and biopsy remain the gold standard for diagnosis of pediatric H. pylori infection. In addition to stronger evidence supporting the role of host influences of H. pylori-associated gastric cancer risk, compelling evidence was provided for the role of H. pylori in iron deficiency anemia of childhood. Antibiotic resistance remains a problem in conferring treatment failure and 2003 studies indicate that macrolide resistance is higher in children than in adults. Treatment with proton pump inhibitor-based triple therapy for 10–14 days remains the mainstay for eradication of H. pylori in childhood. Finally, multinational studies are needed to develop screening guidelines for childhood infection to avoid long-term severe gastroduodenal disease sequelae. [ABSTRACT FROM AUTHOR]

Indoleamine 2,3-dioxygenase (IDO) is a tryptophan (TRP)-catabolizing enzyme with regulatory effects on T cells. T cell inhibition is achieved through both TRP depletion and TRP metabolite accumulation in specific local tissue microenvironments. The expression of IDO activity by different types of antigen-presenting cells (APCs) has been shown to play a role in many instances of immunoregulation and tolerance induction. Induction of IDO after the engagement of the high-affinity receptor for IgE, FcℇRI, on atopic monocytes has been suggested to regulate T cell responses in atopic disorders. Interleukin-10 (IL-10), a cytokine known for its down-regulatory functions in the immune system, has recently been associated with the stable expression of IDO in mature tolerogenic dendritic cells. This study was devised to understand the role of systemic IDO and IL-10 in the prevention of clinical apparent allergy. The concentration of TRP and the break-down product kynurenine were measured by high-performance liquid chromatography in- and off-season in sera from patients with seasonal allergic rhinitis ( n=12) and from clinically asymptomatic atopic patients sensitized to specific aeroallergens ( n=12). Non-atopic (NA) individuals ( n=12) served as control. The concentration of plasma IL-10 was determined in parallel from these donors by ELISA in- and off-season. In clinically unresponsive but aeroallergen-sensitized atopic individuals significantly higher systemic activity of IDO and increased plasma IL-10 levels were found during allergen exposure but not off-season compared to symptomatic atopic individuals with allergic rhinitis and NA individuals. Enhanced systemic IDO activity as well as increased systemic levels of IL-10 may contribute to the containment of allergic T cell responses and could be involved in the maintenance of a state of clinical unresponsiveness. [ABSTRACT FROM AUTHOR]