Clinical Manifestations
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Liyan Li ◽  
Hui Liu ◽  
Honglei Wang ◽  
Zhaoyun Liu ◽  
Yingying Chen ◽  

Objective We performed a retrospective analysis to investigate the clinical characteristics and therapeutic strategies of 20 refractory/recurrent PNH patients, including the clinical efficacy of chemotherapy treatment and survival. Main Measures The clinical data of 20 classic PNH patients that were refractory/recurrent or had glucocorticoid dependence in our hospital were analyzed, including clinical manifestations, laboratory examinations, treatment efficacy and survival. Key Results Seventeen patients had a marked improvement in anemia after chemotherapy, 14 patients acquired blood transfusion independence, and the Hb of 3 patients increased to normal levels. Although 6 patients still needed blood transfusion, the transfusion interval was significantly prolonged. The percentages of LDH, TBIL and RET, which are indicators of hemolysis, were significantly lower than those before chemotherapy. The dosage of adrenal glucocorticoids was reduced by more than half compared with that before chemotherapy. Conclusions Chemotherapy can reduce PNH clones, promote normal hematopoiesis, and control hemolytic attack. It is a promising and widely used therapeutic method.

2021 ◽  
Vol 8 ◽  
Pablo García-Gutiérrez ◽  
Mario García-Domínguez

Cornelia de Lange Syndrome (CdLS) is a human developmental syndrome with complex multisystem phenotypic features. It has been traditionally considered a cohesinopathy together with other phenotypically related diseases because of their association with mutations in subunits of the cohesin complex. Despite some overlap, the clinical manifestations of cohesinopathies vary considerably and, although their precise molecular mechanisms are not well defined yet, the potential pathomechanisms underlying these diverse developmental defects have been theoretically linked to alterations of the cohesin complex function. The cohesin complex plays a critical role in sister chromatid cohesion, but this function is not affected in CdLS. In the last decades, a non-cohesion-related function of this complex on transcriptional regulation has been well established and CdLS pathoetiology has been recently associated to gene expression deregulation. Up to 70% of CdLS cases are linked to mutations in the cohesin-loading factor NIPBL, which has been shown to play a prominent function on chromatin architecture and transcriptional regulation. Therefore, it has been suggested that CdLS can be considered a transcriptomopathy. Actually, CdLS-like phenotypes have been associated to mutations in chromatin-associated proteins, as KMT2A, AFF4, EP300, TAF6, SETD5, SMARCB1, MAU2, ZMYND11, MED13L, PHIP, ARID1B, NAA10, BRD4 or ANKRD11, most of which have no known direct association with cohesin. In the case of BRD4, a critical highly investigated transcriptional coregulator, an interaction with NIPBL has been recently revealed, providing evidence on their cooperation in transcriptional regulation of developmentally important genes. This new finding reinforces the notion of an altered gene expression program during development as the major etiological basis for CdLS. In this review, we intend to integrate the recent available evidence on the molecular mechanisms underlying the clinical manifestations of CdLS, highlighting data that favors a transcription-centered framework, which support the idea that CdLS could be conceptualized as a transcriptomopathy.

2021 ◽  
Linyang Gan ◽  
Xuan Luo ◽  
Yunyun Fei ◽  
Linyi Peng ◽  
Jiaxin Zhou ◽  

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.

2021 ◽  
Vol 9 ◽  
Valentina Guarnieri ◽  
Maria Moriondo ◽  
Mattia Giovannini ◽  
Lorenzo Lodi ◽  
Silvia Ricci ◽  

Healthcare workers (HCWs) play a central role in handling the ongoing coronavirus disease 2019 (COVID-19) pandemic. Monitoring HCWs, both symptomatic and asymptomatic, through screening programs, are critical to avoid the spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in the hospital environment to rapidly identify and isolate infected individuals and to allow their prompt return to work as soon as necessary. We aim to describe our healthcare surveillance experience (April 2–May 6, 2020) based on a combined screening consisting of real-time PCR (RT-PCR) on nasopharyngeal (NP) swabs and rapid serologic tests (RST) for SARS-CoV-2 in all HCWs of Meyer Children's University Hospital in Florence. Among the analyzed workers, 13/1690 (0.8%), all of them without clinical manifestations, was found positive for SARS-CoV-2 by using RT-PCR on NP swab: 8/1472 (0.5%) were found positive during the screening, 1/188 (0.5%) during contact with a positive individual (p > 0.05 vs. screening group), while 4/30 (13.3%) were found positive on the day of re-admission at work after an influenza-like-illness (p < 0.05). Concerning working areas, the majority of RT-PCR positivity (12/13) and serologic positivity (34/42) was found in non-COVID-19 dedicated areas (p > 0.05 vs. COVID-19 dedicated areas). No cases were registered among non-patients-facing workers (p = 0.04 vs. patient-facing group). Nurses and residents represented, respectively, the working role with the highest and lowest percentage of RT-PCR positivity. In conclusion, accurate surveillance is essential to reduce virus spread among HCWs, patients, and the community and to limit the shortage of skilled professionals. The implementation of the surveillance system through an efficient screening program was offered to all professionals, regardless of the presence of clinical manifestations and the level of working exposure risk, maybe wise and relevant.

2021 ◽  
Bernard Tornyigah ◽  
Samuel Blankson ◽  
Rafiou Adamou ◽  
Azizath Moussiliou ◽  
Lauriane Rietmeyer ◽  

Abstract Background: Malaria-related deaths could be prevented if prompt diagnosis and prognostic biomarkers are available to allow rapid adequate treatment. Understanding of the mechanisms implicated in the progression from P. falciparum asymptomatic and uncomplicated malaria infections to severe life-threatening disease is necessary to identify such indicators. Methods: Using quantitative ELISA, we assessed the plasma concentrations of Procalcitonin, Pentraxine 3, Ang-2, sTie-2, suPAR, sEPCR, and sICAM-1 in a cohort of 337 Beninese children who presented with pediatric malaria to investigate the potential association with clinical manifestations and outcomes. Results: The molecules showed higher levels in children with severe or cerebral malaria compared to those with uncomplicated malaria. Plasmas concentrations of PTX3, PCT and the soluble receptors suPAR, sTie-2, sICAM-1 were significantly higher in children with deep coma as defined by a Blantyre Coma Score < 3 (P <0.001 for PTX3, suPAR, sTie-2, p=0.004 for PCT and p=0.005 for sICAM-1). Moreover, the concentrations of PTX3, suPAR and sEPCR were higher among children who died from severe malaria compared to those who survived with (p=0.037, p=0.035, and p=0.002 respectively).Conclusion: Our findings indicate the ability of these seven bioactive molecules to discriminate among the clinical manifestations of malaria and therefore, given their potential utility as prognostic biomarkers for severe and fatal malaria, they might be useful to improve severe cases management.

Cureus ◽  
2021 ◽  
Obaid Rehman ◽  
Urooj Jaferi ◽  
Inderbir Padda ◽  
Nimrat Khehra ◽  
Harshan Atwal ◽  

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Jing Yang ◽  
Yan Liu

Abstract Background Autosomal recessive hyper-IgE syndrome (AR-HIES) caused by DOCK8 gene is a rare immunodeficiency disease, the main clinical manifestations include recurrent Eczema-like rash, skin and lung abscesses, accompanied with increased serum IgE level. Here, we report a 7-year-old Chinese girl with a new clinic features caused by DOCK8 gene mutations. Case presentation A 7-year-old girl was admitted to our hospital because of abnormal walking posture. The clinical manifestations of the patient included abnormal gait, eczema-like rash, fingertip abscess, high muscle tone, and facial paralysis. Among them, high muscle tone and facial paralysis are new clinic features which have not been reported previously. The blood eosinophils and serum IgE levels were significantly increased, and the lymphocyte subsets indicated a decrease of T lymphocytes. The magnetic resonance imaging (MRI) of her brain suggested myelin dysplasia and brain atrophy. Two novel compound heterozygous mutations (c.1868 + 2 T > C and c.5962-2A > G) of DOCK8 gene were identified by whole exome sequencing. By literature review, there are 11 mutations of DOCK8 gene in Chinese AR-HIES patients. Conclusions Two novel splice-site mutations(c.1868 + 2 T > C and c.5962-2A > G) of DOCK8 gene and new clinic features were found in a Chinese girl with AR-HIES, which extends our understanding of DOCK8 gene mutation spectrum and phenotype of AR-HIES in children.

Dimitrios Kalogeropoulos ◽  
Ioannis Asproudis ◽  
Maria Stefaniotou ◽  
Marilita Moschos ◽  
Constantina Gartzonika ◽  

2021 ◽  
Vol 12 (2) ◽  
pp. 103-109
Georgii A. Airapetov ◽  
Alexandr A. Vorotnikov

The number of patients with degenerative joint pathology is steadily increasing. Arthrosis of the 1st metatarsophalangeal joint (hallux rigidus) is no exception, it occurs in 20-35 % of young and working people who lead a mobile lifestyle and is manifested by a symptom complex, including pain and a significant restriction of the function of the entire lower limb. The leading cause of the pathology development is degenerative-dystrophic changes in the joint, leading to pain syndrome and restriction of movement. Today, there are a large number of treatment options, both conservative and surgical. The choice of a specific surgical intervention from the entire variety of options is a difficult task, it is strictly individual and requires consideration of various clinical manifestations of the disease and a number of other factors. So, if 10 years ago arthrodesis was considered a gold standard for the HR treatment, today most authors recommend organ-sparing treatment, in particular, shortening osteotomies of the metatarsal bone with a possible use of scaffolds for the regeneration of articular cartilage. The article analyzes the main results of the HR surgical treatment presented in the publications of national and foreign specialists. In some cases, our own recommendations on the choice of the method are suggested.

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