Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation

Background: Acute bacterial nephritis is an infectious process diagnosed through imaging studies. The clinical course of the disease has been shown to be more aggressive than acute pyelonephritis. It continues to be underdiagnosed, thus there are few studies on the entity in the literature. Objective: To describe the clinical characteristics and imaging features of acute bacterial nephritis, as well as its clinical course. Design: A descriptive, retrospective case series was conducted. Materials and methods: Thirty-two cases of acute bacterial nephritis in patients admitted to the hospital within the time frame of 2009 to 2016 were reviewed. The patients’ clinical characteristics upon admission were registered, as well as inpatient clinical progression, culture results, and antibiotic therapy response. The imaging studies were re-evaluated and the diagnostic consistency with either the focal or multifocal disease presentation was confirmed. Results: Cases predominated in women (n=29, 90.62%) and the most frequently associated comorbidities were diabetes (n=16, 50%) and obesity (n=9, 28.25%). The most important clinical findings upon admission were fever (n=15, 46.87%) and leukocytosis (n=27, 84.38%). Escherichia coli was the most commonly isolated bacterium (63.63%). Both acute focal bacterial nephritis and acute multifocal bacterial nephritis were observed in 46.87% (n=15) and 53.13% (n=17) of the patients, respectively. Imaging studies were required for all diagnoses. Conclusion: Fever and leukocytosis are the main findings in acute bacterial nephritis. Imaging studies are necessary for making the diagnosis, given that acute pyelonephritis and acute bacterial nephritis cannot be clinically differentiated.

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MicroRNAs regulating SOX2 in cancer progression and therapy response

Expert Reviews in Molecular Medicine ◽

10.1017/erm.2021.15 ◽

2021 ◽

Vol 23 ◽

Author(s):

Sepideh Mirzaei ◽

Hamidreza Saebfar ◽

Mohammad Hossein Gholami ◽

Farid Hashemi ◽

Ali Zarrabi ◽

...

Keyword(s):

Gene Expression ◽

Cancer Progression ◽

Target Gene ◽

Clinical Course ◽

Therapy Response ◽

Molecular Pathways ◽

Aberrant Expression ◽

Anti Cancer ◽

Sox Proteins ◽

And Migration

Abstract The proliferation, metastasis and therapy response of tumour cells are tightly regulated by interaction among various signalling networks. The microRNAs (miRNAs) can bind to 3′-UTR of mRNA and down-regulate expression of target gene. The miRNAs target various molecular pathways in regulating biological events such as apoptosis, differentiation, angiogenesis and migration. The aberrant expression of miRNAs occurs in cancers and they have both tumour-suppressor and tumour-promoting functions. On the contrary, SOX proteins are capable of binding to DNA and regulating gene expression. SOX2 is a well-known member of SOX family that its overexpression in different cancers to ensure progression and stemness. The present review focuses on modulatory impact of miRNAs on SOX2 in affecting growth, migration and therapy response of cancers. The lncRNAs and circRNAs can function as upstream mediators of miRNA/SOX2 axis in cancers. In addition, NF-κB, TNF-α and SOX17 are among other molecular pathways regulating miRNA/SOX2 axis in cancer. Noteworthy, anti-cancer compounds including bufalin and ovatodiolide are suggested to regulate miRNA/SOX2 axis in cancers. The translation of current findings to clinical course can pave the way to effective treatment of cancer patients and improve their prognosis.

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Omics-based insights into therapy failure of pediatric B-lineage acute lymphoblastic leukemia

Oncology Reviews ◽

10.4081/oncol.2019.435 ◽

2019 ◽

Vol 13 (2) ◽

Author(s):

Suliman A. Alsagaby

Keyword(s):

Acute Lymphoblastic Leukemia ◽

Treatment Failure ◽

Clinical Course ◽

Lymphoblastic Leukemia ◽

Therapy Response ◽

Common Type ◽

Therapy Outcomes ◽

Therapy Failure ◽

Molecular Abnormalities ◽

B Lineage

B-lineage acute lymphoblastic leukemia (B-ALL) is the most common type of cancer seen in children and is characterized by a variable clinical course. Although there have been remarkable improvements in the therapy outcomes of pediatric B-ALL, treatment failure remains the leading-cause of death in 18% of the afflicted patients during the first 5 years after diagnosis. Molecular heterogeneities of pediatric B-ALL play important roles as determinants of the therapy response. Therefore, many of these molecular abnormalities have an established prognostic value in the disease. The present review discusses the omics-based revelations from epigenomics, genomics, transcriptomics and proteomics about treatment failure in pediatric B-ALL. Next it highlights the promise of the molecular aberration-targeted therapy to improve the treatment outcomes.

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The clinical course of cutaneous mastocytosis in a prospective group of 163 children according to electronic parent survey

Russian Journal of Pediatric Hematology and Oncology ◽

10.21682/2311-1267-2021-8-2-13-25 ◽

2021 ◽

Vol 8 (2) ◽

pp. 13-25

Author(s):

V. G. Potapenko ◽

V. V. Baykov ◽

E. G. Boychenko ◽

D. V. Zaslavsky ◽

O. L. Krasnogorskaya ◽

...

Keyword(s):

Clinical Course ◽

Pediatric Population ◽

Therapy Response ◽

Study Data ◽

Observation Time ◽

First Year ◽

Parent Survey ◽

Using Data ◽

Cutaneous Mastocytosis ◽

First Year Of Life

Introduction. Mastocytosis occurs due to clonal mast cells proliferation and may have different clinical course. As the disease only rarely occurs in pediatric population there are very few clinical observations describing its symptoms, prognosis and therapy response in pediatric cohorts.Aim of the study — characterization of gender, sympthoms, prognosis and therapy in children with mastocytosis using data obtained by electronic parent survey.Methods. The study data was collected from November 2014 till August 2020 from parents referring for consultation of hematologist via “Vkontakte” social network. All parents completed two surveys. The first one was performed right after the referral, the second one was performed from May 2020 to August 2020. The data on age at symptoms onset, family history, symptoms, rash distribution, serum tryptase concentrations, sunlight sensitivity and clinical course was obtained and analyzed.Results. The data on 163 children was obtained, 86 (52.7 %) of them were boys and 77(47.3 %) were girls. The median age was 6 (0.5—22) years. At the end of survey the median observation time was 61.5 (2—276) months. The most common mastocytosis clinical variant was urticaria pigmentosa (n = 129; 79.1 %), mastocytoma in 18 (11 %) and in 15 (9.9 %) an unknown variant was observed. The diagnosis was based on skin biopsy in 19 patients (11.6 %). Characteristic symptoms were seen in 123 (75.4 %) children. The main complaints were skin reaction triggered by various factors (n = 89; 72.3 %) and itching (n = 78; 63.4 %). Most patients took antihistamines (n = 64; 61 %) and ketotifen (n = 22; 21 %). The second survey was conducted in 139 (85.2 %) pts. At the time of survey symptoms progression was seen in 4 (2.9 %) patients, while in 42 (30.2 %) cases stabilization, and in 93 (66.9 %) cases improvement were observed.Conclusion. The symptoms onset mostly occurs in the first year of life. Most frequents symptoms are itching and rash in response to various triggers. Antihistamine drugs led to symptoms mitigation. The clinical course is benign in most children.

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Anti-IgLON5 Disease

Neurology Neuroimmunology & Neuroinflammation ◽

10.1212/nxi.0000000000000962 ◽

2021 ◽

Vol 8 (2) ◽

pp. e962

Author(s):

Jana Werner ◽

Ilijas Jelcic ◽

Esther Irene Schwarz ◽

Elisabeth Probst-Müller ◽

Jakob Nilsson ◽

...

Keyword(s):

Motor Neuron ◽

Motor Neuron Disease ◽

Clinical Course ◽

Brain Mri ◽

Therapy Response ◽

Laboratory Findings ◽

Sleep Related Breathing Disorders ◽

Important Differential Diagnosis ◽

Breathing Disorders ◽

Lateral Sclerosis

ObjectiveTo expand the spectrum of anti-IgLON5 disease by adding 5 novel anti-IgLON5–seropositive cases with bulbar motor neuron disease-like phenotype.MethodsWe characterized the clinical course, brain MRI and laboratory findings, and therapy response in these 5 patients.ResultsPatients were severely affected by bulbar impairment and its respiratory consequences. Sleep-related breathing disorders and parasomnias were common. All patients showed clinical or electrophysiologic signs of motor neuron disease without fulfilling the diagnostic criteria for amyotrophic lateral sclerosis. One patient regained autonomy in swallowing and eating, possibly related to immunotherapy.ConclusionIgLON5 disease is an important differential diagnosis to evaluate in patients with bulbar motor neuron disease-like phenotype and sleep disorders. There is need for a deeper understanding of the underlying pathobiology to determine whether IgLON5 disease is an immunotherapy-responsive condition.

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