scholarly journals Variant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort

2022 ◽  
Author(s):  
Bijun Sun ◽  
Zeyu Zhu ◽  
Xiaoying Hui ◽  
Jinqiao Sun ◽  
Wenjie Wang ◽  
...  
Keyword(s):  
Soft Tissues ◽  
Stimulation Index ◽  
Clinical Manifestations ◽  
Neutrophil Function ◽  
Mycobacterium Tuberculosis Infection ◽  
Laboratory Findings ◽  
Variant Type ◽  
Binding Domains ◽  
Oral Ulcers ◽  
Chinese Cohort

Abstract Purpose: We aimed to report the clinical and immunological characteristics of variant type X91+ CGD in a Chinese cohort.Methods: The clinical manifestations and immunological phenotypes of X91+ CGD patients were collected. Dihydrorhodamine (DHR) analysis was performed to evaluate neutrophil function. Gp91phox protein expression was determined by flow cytometry-based extracellular staining with the monoclonal antibody (mAb) 7D5. Results: X91+CGD patients accounted for 8% (7/85) of all patients with GCD. The median onset age in the 7 X91+ CGD patients was 4 months. Six patients received the same BCG vaccine strain, and three had probable BCG infections. Moreover, 4 patients were highly suspected of having Mycobacterium tuberculosis infection. Recurrent infections of the lungs and soft tissues (3/7) were the most common symptoms. Two patients had noninfectious recurrent oral ulcers and received interferon gamma (IFN-γ) treatment afterward. In our cohort, the stimulation index (SI) of the 7 X91+ CGD patients ranged widely from 1.9 to 67.5, while the SI ranged from 1.2 to 35.7 in patents with X910 CGD. The level of SI between these two groups was statistically significant (P<0.05). CYBB mutations associated with X91+CGD were usually located in or near the FAD and NADPH binding domains. Three new X91+ CGD related mutations (c.1462-2 A>T, c.1243C>T and c.925G>A) were identified. Conclusions: Variant type X91+ CGD may have varied severities of clinical manifestations. Moreover, the laboratory findings of X91+ CGD could present with a moderate neutrophil stimulation index. We should deepen our understanding of the X91+ variant CGD to prevent missed diagnosis.

scholarly journals Evaluation of Interleukin-2 to Detect Active and Latent Tuberculosis among Household Contacts of Pulmonary Tuberculosis Cases

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Azadeh Jafrasteh ◽  
Abdollah Karimi ◽  
Seyedeh Mahsan Hoseinialfatemi ◽  
Leila Azimi ◽  
Payam Tabarsi ◽  
...  
Keyword(s):  
Serum Level ◽  
Active Form ◽  
Interleukin 2 ◽  
Clinical Manifestations ◽  
Latent Tuberculosis ◽  
Tuberculosis Infection ◽  
Mycobacterium Tuberculosis Infection ◽  
Laboratory Findings ◽  
Household Contacts ◽  
Potential Biomarker

Background: The interferon-gamma release assays (IGRAs) are the most important diagnostic approach to Mycobacterium tuberculosis infection diagnosis. However, they cannot discriminate between latent tuberculosis infection (LTBI) and active tuberculosis (TB). Some recent studies suggested that interleukin-2 (IL-2) response to M. tuberculosis could be utilized as a potential biomarker to discriminate active disease from LTBI. Objectives: The current study aimed at evaluating the potential role of IL-2 to detect both active TB and LTBI among household contacts of patients with pulmonary TB in two TB-endemic regions of Iran. Methods: A total of 650 household contacts of patients with TB were invited to participate in the current study. All subjects were diagnosed on extensive clinical evaluation of active TB and LTBI based on clinical manifestations and laboratory findings. The IGRA test was performed using QuantiFERON®-TB Gold Plus. The serum level of IL-2 was measured using the ELISA Development Kit. Results: A total of 237 household contacts entered the final analysis, including 132 patients with LTBI and three with active TB. In addition, 14 subjects were included as TB controls and 102 as TB-uninfected controls. The serum level of IL-2 was significantly higher in active TB and LTBI patients than TB-uninfected controls. The ROC curve was plotted between active TB and LTBI, revealing that the cutoff point of 25.5 pg/mL identifies the active form with 88.24% sensitivity and 36.36% specificity. Conclusions: The current study indicated that the IL-2 assay could not discriminate between active TB and LTBI with acceptable sensitivity.

scholarly journals Prooxidant-Antioxidant Balance in Patients with Systemic Lupus Erythematosus and Its Relationship with Clinical and Laboratory Findings

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Seyyed Mehdi Jafari ◽  
Saeedeh Salimi ◽  
Alireza Nakhaee ◽  
Hamed Kalani ◽  
Shima Tavallaie ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Stress Condition ◽  
Clinical Manifestations ◽  
Systemic Lupus ◽  
Laboratory Findings ◽  
Oral Ulcers ◽  
The Mean ◽  
Positive Significant Correlation ◽  
Control Study

Aim. This study was aimed at evaluating prooxidant-antioxidant balance (PAB) in patients with systemic lupus erythematosus (SLE) and its relationship with laboratory findings and clinical manifestations.Methods. In this case-control study, 60 patients with SLE and 60 healthy individuals were enrolled. The blood samples were collected and their sera were separated. Subsequently, the prooxidant-antioxidant balance value was evaluated using PAB assay for each sample.Results. The mean of PAB values in SLE patients was significantly higher than healthy controls (147.3±42versus84.8±32.2 HK,P<0.0001). Furthermore, in SLE patients, there was a positive significant correlation between the PAB and erythrocyte sedimentation rate (ESR) (r=0.492,P<0.001). In addition, the PAB values in patients with alopecia, discoid rash, oral ulcers, arthritis, and nephritis were significantly higher than those without these manifestations.Conclusion. The findings of current study showed that the mean of PAB was significantly higher in SLE patients and PAB was correlated with ESR. Moreover increased PAB was found in SLE patients with alopecia, discoid rash, oral ulcers, arthritis, and nephritis. These findings suggest that the measurement of PAB may be useful to show oxidative stress condition in SLE patients.

scholarly journals Clinical presentations and long term prognosis of childhood onset polyarteritis nodosa in single centre of Korea

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jeong-Seon Lee ◽  
Joong-Gon Kim ◽  
Soyoung Lee
Keyword(s):  
Polyarteritis Nodosa ◽  
Clinical Manifestations ◽  
Long Term Outcomes ◽  
Childhood Onset ◽  
Laboratory Findings ◽  
Clinical Presentations ◽  
Long Term Prognosis ◽  
Digital Amputation

AbstractChildhood-onset polyarteritis nodosa (PAN) is a rare and systemic necrotising vasculitis in children affecting small- to medium-sized arteries. To date, there have been only a few reports because of its rarity. Thus, we aimed to investigate the clinical manifestations, laboratory findings, treatment, and long-term outcomes in patients with childhood-onset PAN and to evaluate the usefulness of the paediatric vasculitis activity score (PVAS). We retrospectively analysed the data of nine patients with childhood-onset PAN from March 2003 to February 2020. The median ages at symptom onset, diagnosis, and follow-up duration were 7.6 (3–17.5), 7.7 (3.5–17.6), and 7.0 (1.6–16.3) years, respectively. All patients had constitutional symptoms and skin manifestations, while five exhibited Raynaud’s phenomenon. Organ involvement was observed in one patient. The median PVAS at diagnosis was 7 (range: 2–32). Prednisolone was initially used for induction in all patients, and other drugs were added in cases refractory to prednisolone. All patients survived, but three patients with high PVAS at diagnosis experienced irreversible sequelae, including intracranial haemorrhage and digital amputation. In conclusion, early diagnosis and treatment may minimise sequelae in patients with childhood-onset PAN. This study suggests that high PVAS score at diagnosis may be associated with poor prognosis.

scholarly journals Primary immune deficiencies with defects in neutrophil function

Hematology ◽  
2016 ◽  
Vol 2016 (1) ◽  
pp. 43-50 ◽  
Author(s):  
Mary C. Dinauer
Keyword(s):  
Fungal Infections ◽  
Leukocyte Adhesion ◽  
Genetic Disorders ◽  
Clinical Manifestations ◽  
Treatment Strategies ◽  
Adaptor Protein ◽  
Invasive Fungal Disease ◽  
Neutrophil Function ◽  
Microbial Pathogens ◽  
Immune Deficiencies

Abstract Immune deficiencies resulting from inherited defects in neutrophil function have revealed important features of the innate immune response. Although sharing an increased susceptibility to bacterial and fungal infections, these disorders each have distinctive features in their clinical manifestations and characteristic microbial pathogens. This review provides an update on several genetic disorders with impaired neutrophil function, their pathogenesis, and treatment strategies. These include chronic granulomatous disease, which results from inactivating mutations in the superoxide-generating nicotinamide dinucleotide phosphate oxidase. Superoxide-derived oxidants play an important role in the control of certain bacterial and fungal species, and also contribute to the regulation of inflammation. Also briefly summarized are updates on leukocyte adhesion deficiency, including the severe periodontal disease characteristic of this disorder, and a new immune deficiency associated with defects in caspase recruitment domain–containing protein 9, an adaptor protein that regulates signaling in neutrophils and other myeloid cells, leading to invasive fungal disease.

SPECIAL ARTICLE

PEDIATRICS ◽  
1955 ◽  
Vol 15 (5) ◽  
pp. 642-646
Keyword(s):  
General Population ◽  
Rheumatic Fever ◽  
Streptococcal Infection ◽  
Acute Otitis Media ◽  
Clinical Manifestations ◽  
Diagnostic Errors ◽  
White Blood Count ◽  
Streptococcal Infections ◽  
Laboratory Findings ◽  
Adequate Treatment

RHEUMAT1C fever is a recurrent disease which in most instances can be prevented. Since both the initial and recurrent attacks of the disease are precipitated by infections with beta hemolytic streptococci, prevention of rheumatic fever and rheumatic heart disease depends upon the control of streptococcal infections. This may be accomplished by (1) early and adequate treatment of streptococcal infections in all individuals and (2) prevention of streptococcal infections in rheumatic subjects. TREATMENT OF STREPTOCOCCAL INFECTIONS IN THE GENERAL POPULATION In the general population about 3 per cent of untreated streptococcal infections are followed by rheumatic fever. Adequate and early penicillin treatment, however, will eliminate streptococci from the throat and prevent most attacks of rheumatic fever. Diagnosis of Streptococcal Infection In many instances streptococcal infections can be recognized by their clinical manifestations. In some patients, however, it is difficult or impossible to determine the streptococcal nature of a respiratory infection without obtaining throat cultures. The following section on diagnosis has been included in order to reduce diagnostic errors and to assist physicians in avoiding unnecessary therapy. The accurate recognition of individual streptococcal infections, their adequate treatment and the control of epidemics in the community presently offer the best means of preventing initial and recurrent rheumatic fever. Common Symptoms Sore Throat—sudden onset, pain on swallowing. Headache—common. Fever—variable, but generally from 101° to 104°F. Abdominal Pain—common, especially in children; less common in adults. Nausea and Vomiting—common, especially in children. Common Signs Red Throat. Exudate—usually present. Glands—swollen, tender lymph nodes at angle of jaw. Rash—scarlatiniform. Acute Otitis Media and Acute Sinusitis —frequently due to the streptococcus. In the absence of the common symptoms and signs occurrence of any of the following symptoms is usually not associated with a streptococcal infection : simple coryza; hoarseness; cough. Laboratory Findings White Blood Count—generally over 12,000. Throat Culture—positive culture for hemolytic streptococci is almost always diagnostic.

scholarly journals Amplification of the flgE gene provides evidence for the existence of a Brazilian borreliosis

2012 ◽  
Vol 54 (3) ◽  
pp. 153-158 ◽  
Author(s):  
Elenice Mantovani ◽  
Roberta G. Marangoni ◽  
Giancarla Gauditano ◽  
Virgínia L.N. Bonoldi ◽  
Natalino H. Yoshinari
Keyword(s):  
New Species ◽  
Erythema Migrans ◽  
Clinical Manifestations ◽  
Sensu Stricto ◽  
Borrelia Burgdorferi Sensu Lato ◽  
Laboratory Findings ◽  
Blood Samples ◽  
Commercial Kits ◽  
Conserved Gene ◽  
A New Species

INTRODUCTION: The symptoms of Brazilian borreliosis resemble the clinical manifestations of Lyme disease (LD). However, there are differences between the two in terms of epidemiological and laboratory findings. Primers usually employed to diagnose LD have failed to detect Borrelia strains in Brazil. OBJECTIVE: We aimed to identify the Brazilian Borrelia using a conserved gene that synthesizes the flagellar hook (flgE) of Borrelia burgdorferi sensu lato. METHOD: Three patients presenting with erythema migrans and positive epidemiological histories were recruited for the study. Blood samples were collected, and the DNA was extracted by commercial kits. RESULTS: The gene flgE was amplified from DNA of all selected patients. Upon sequencing, these positive samples revealed 99% homology to B. burgdorferi flgE. CONCLUSION: These results support the existence of borreliosis in Brazil. However, it is unclear whether this borreliosis is caused by a genetically modified B. burgdorferi sensu stricto or by a new species of Borrelia spp.

scholarly journals First autochthonous case of canine visceral leishmaniasis in Volta Redonda, Rio de Janeiro, Brazil

2013 ◽  
Vol 22 (3) ◽  
pp. 424-426 ◽  
Author(s):  
Monique Paiva de Campos ◽  
Denise Amaro da Silva ◽  
Maria de Fátima Madeira ◽  
Artur Augusto Mendes Velho Júnior ◽  
Fabiano Borges Figueiredo
Keyword(s):  
Visceral Leishmaniasis ◽  
Diagnostic Tests ◽  
Rio De Janeiro ◽  
Scientific Community ◽  
Clinical Manifestations ◽  
Canine Visceral Leishmaniasis ◽  
Leishmania Chagasi ◽  
Laboratory Findings ◽  
Autochthonous Case ◽  
Canine Diseases

In Brazil, American visceral leishmaniasis (AVL) is caused byLeishmania (Leishmania) chagasi and its main vector isLutzomyia longipalpis. Cases of canine visceral leishmaniasis (CVL) in non-endemic areas have been reported over the last few years throughout the country. The objective of this research note is to describe an autochthonous case of CVL that occurred in the municipality of Volta Redonda, state of Rio de Janeiro, an area where the disease is not endemic, alerting veterinarians and the scientific community to the expansion of this important zoonosis and advising veterinary practitioners on how to deal with a suspicion of CVL. Canine visceral leishmaniasis can be misdiagnosed within a broad spectrum of canine diseases based on clinical and laboratory findings. Therefore, knowledge of its clinical manifestations, specific and sensitive laboratory diagnostic tests and parasitological procedures are of the utmost importance for rapid confirmation and notification of a case, thus contributing directly to the control of a focus.

scholarly journals Paediatric visceral leishmaniasis: a retrospective study on clinical manifestations, demographic features and laboratory findings of hospitalised cases in Iran between 2006 and 2016

2018 ◽  
Vol 49 (1) ◽  
pp. 59-61 ◽  
Author(s):  
Manijeh Nourian ◽  
Aliehsan Heidari ◽  
Saleheh Tajali ◽  
Erfan Ghasemi ◽  
Mehdi Mohebali ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Visceral Leishmaniasis ◽  
Clinical Manifestations ◽  
Laboratory Findings ◽  
Neglected Disease ◽  
Paediatric Hospital ◽  
Geographical Regions ◽  
Epidemiological Characteristics ◽  
Demographic Features

Visceral leishmaniasis (VL) is a neglected disease. Our retrospective study describes 38 clinical and epidemiological characteristics of VL in patients admitted to a paediatric hospital in Tehran, Iran, who came from different geographical regions, indicating that the disease has spread to most parts of the country. Some 76.3% of the children documented suffered with symptoms of the disease for two months before admission.

scholarly journals Clinical Manifestations of Orbital Involvement in IgG4-Related Disease: A Retrospective Study of 573 Patients

2021 ◽  
Author(s):  
Linyang Gan ◽  
Xuan Luo ◽  
Yunyun Fei ◽  
Linyi Peng ◽  
Jiaxin Zhou ◽  
...  
Keyword(s):  
Lacrimal Gland ◽  
Clinical Laboratory ◽  
Clinical Manifestations ◽  
Chinese Patients ◽  
Laboratory Findings ◽  
Male Predominance ◽  
Orbital Involvement ◽  
Related Disease ◽  
Igg4 Related Disease ◽  
Serum Igg4

Abstract Purpose: To investigate the clinical manifestations of orbital involvement in a large cohort of Chinese patients with IgG4-related disease (IgG4-RD). Methods: A total of 573 patients with IgG4-related disease were included. We described and compared the demographic, clinical, laboratory and histopathologic findings from 314 patients with IgG4-related ophthalmic disease (IgG4-ROD) and 259 with extra-ophthalmic IgG4-RD.Results: Male predominance was found significant in extra-ophthalmic IgG4-RD only. Patients with IgG4-ROD showed younger age at diagnosis and longer duration from onset till diagnosis. In patients with extra-ophthalmic IgG4-RD, the most commonly involved extra-ophthalmic organ was pancreas; while in IgG4-ROD patients, salivary gland was most frequently affected. Multivariate analysis exhibited IgG4-ROD was associated with allergy history, higher serum IgG4/IgG ratio, multiple organs involvement and sialoadenitis. Orbital images were reviewed in 173 (55.1%) IgG4-ROD patients. Fifty-one (29.5%) patients had multiple lesions. Lacrimal gland involvement was detected in 151 (87.3%) patients, followed by extraocular muscles (40, 23.1%), other orbital soft tissue (40, 23.1%) and trigeminal nerve (8, 4.6%). Biopsy was performed from various organs in 390 cases. A dense lymphoplasmacytic infiltration and fibrosis were the main feature in orbital specimens. Storiform fibrosis and obliterative phlebitis were absent in lacrimal gland.Conclusions: Lacrimal gland involvement was the most common orbital manifestation of IgG4-ROD. Patients with IgG4-ROD showed different characteristic in demographic, clinical, laboratory findings compared to patients with extra-ophthalmic IgG4-RD. These features might indicate potential differences in the pathogenesis of these two subgroups of IgG4-RD.

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