Diagnosing leukaemia in a primary health care setting

This article synthesises current knowledge about the presentation and diagnosis of leukaemia. It will also suggest strategies for early diagnosis of the disease in primary care. This article is to be used as a guide by GPs in their learning for when to initiate blood tests for possible cases of leukaemia and how to recognise the common and non-specific symptoms of leukaemia.

Liver abscess in the caudate lobe caused by a fishbone and treated by laparoscopy: a case report

Background Ingestion of fish bones leading to gastric perforation and inducing abscess formation in the caudate lobe of the liver is very rare. Case presentation A 67-year-old man presented to our hospital with a 2-day history of subxiphoid pain. There were no specific symptoms other than pain. Laboratory tests showed only an increase in the number and percentage of neutrophils. Contrast-enhanced Computerized tomography (CT) of the abdomen showed two linear dense opacities in the gastric cardia, one of which penetrated the stomach and was adjacent to the caudate lobe of the liver, with inflammatory changes in the caudate lobe. We finally diagnosed his condition as a caudate lobe abscess secondary to intestinal perforation caused by a fishbone based on the history and imaging findings. The patient underwent 3D laparoscopic partial caudate lobectomy, incision and drainage of the liver abscess, and fishbone removal. The procedure was successful and we removed the fishbone from the liver. The patient was discharged on the 9th postoperative day without other complications. Conclusions Liver abscess caused by foreign bodies requires multidisciplinary treatment. Especially when located in the caudate lobe, we must detect and remove the cause of the abscess as early as possible. Foreign bodies that perforate the gastrointestinal tract can penetrate to the liver and cause abscess formation, as in this case. When exploring the etiology of liver abscesses, we should investigate the general condition, including the whole gastrointestinal tract.

FGFR Pathway Inhibition in Gastric Cancer: The Golden Era of an Old Target?

Gastric cancer (GC) is the third leading cause of cancer-associated death worldwide. The majority of patients are diagnosed at an advanced/metastatic stage of disease due to a lack of specific symptoms and lack of screening programs, especially in Western countries. Thus, despite the improvement in GC therapeutic opportunities, the survival is disappointing, and the definition of the optimal treatment is still an unmet need. Novel diagnostic techniques were developed in clinical trials in order to characterize the genetic profile of GCs and new potential molecular pathways, such as the Fibroblast Growth Factor Receptor (FGFR) pathway, were identified in order to improve patient’s survival by using target therapies. The aim of this review is to summarize the role and the impact of FGFR signaling in GC and to provide an overview regarding the potential effectiveness of anti-FGFR agents in GC treatment in the context of precision medicine.

Is there a rendezvous for SARS-CoV-2 and Agmatine?

The catastrophe of the ongoing COVID-19 pandemic is caused by Severe Acute Respiratory Syndrome Corona Virus-2 (SARS-CoV-2). The respiratory system appears to be ground zero in the majority of the patients. However, many other organs can get infected by cytokines, chemokines and other mediators released in response to the presence of the virus. The neurotropism by the SARS-CoV-2 is established beyond doubt. In addition to non-specific symptoms, the symptoms specific to central and/or peripheral nervous system diseases as well as neuromuscular diseases have been observed in numerous clinical cases. These observations and the experiences with other coronavirus infections earlier and flu pandemics raise concerns not only about the neurological effects in active disease but also about the long-term effects generated by the infection, immune and inflammatory functions. The knowledge of biological actions of agmatine in the backdrop of physiological events instigated by invading SARS-CoV-2 and host’s response, especially in neural events, focuses on the possible overlaps of biomolecular pathways at a number of instances. This is not surprising since the factors stimulated during SARS-CoV-2 infection are the disease-generating neuroinflammatory components altered by agmatine. Hence, we hypothesize the possible beneficial role of agmatine in SARS-CoV-2 infection. Based on a narrative review of the literature, agmatine can be proposed as a plausible beneficial candidate for supporting treatment of SARS-CoV-2 infection and for addressing post-infection neurological complications.

Symptom Burden and Factors Associated with Acute Respiratory Infections in the First Two Years of Life—Results from the LoewenKIDS Cohort

Acute respiratory infections (ARIs) are the most common childhood illnesses worldwide whereby the reported frequency varies widely, often depending on type of assessment. Symptom diaries are a powerful tool to counteract possible under-reporting, particularly of milder infections, and thus offer the possibility to assess the full burden of ARIs. The following analyses are based on symptom diaries from participants of the German birth cohort study LoewenKIDS. Primary analyses included frequencies of ARIs and specific symptoms. Factors, which might be associated with an increased number of ARIs, were identified using the Poisson regression. A subsample of two hundred eighty-eight participants were included. On average, 13.7 ARIs (SD: 5.2 median: 14.0 IQR: 10–17) were reported in the first two years of life with an average duration of 11 days per episode (SD: 5.8, median: 9.7, IQR: 7–14). The median age for the first ARI episode was 91 days (IQR: 57–128, mean: 107, SD: 84.5). Childcare attendance and having siblings were associated with an increased frequency of ARIs, while exclusive breastfeeding for the first three months was associated with less ARIs, compared to exclusive breastfeeding for a longer period. This study provides detailed insight into the symptom burden of ARIs in German infants.

Inflammatory Myofibroblastic Tumor in the Inguinal canal: A Rare Case Report

Background Inflammatory myofibroblastic tumors, previously known as inflammatory pseudotumors, are rare soft tissue carcinomas with variable presentation and location. Due to non-specific symptoms and location, the diagnosis of this condition is often clinically challenging. Only a handful of case reports have been published in the literature describing this tumor, and there is still a lack of consensus on pathogenesis, risk factors, and treatment strategy. Most tumors have shown mutation in the anaplastic lymphoma receptor tyrosine kinase (ALK) gene. In this article, we describe a case of ALK-negative malignant inflammatory myofibroblastic tumor. Case A 46 years old male with no risk factors presented with a mass in the inguinal region. The ultrasound was suggestive of a mixed echoic mass suggestive of inguinal hernia, which led to surgical repair with resection of the tumor segment. Subsequently, histopathology and immunohistochemistry confirmed that the mass was an inflammatory myofibroblastic tumor which then recurred in a few years and failed to respond to multiple chemotherapy regimens, and over time, it progressively metastasized to the anterior abdominal wall and lungs. The patient is currently receiving palliative chemotherapy and symptomatic treatment. Conclusion This rare soft tissue tumor has not received much attention, and clinicians often miss the diagnosis. We stress that further study should be carried out on these soft tissue tumors, and adequate diagnostic and therapy recommendations should be developed.

A Three-Generation Muckle-Wells Syndrome Family: Detailed Family History, Physical Examination, and Inter-Departmental Collaboration

Cryopyrin-associated periodic syndrome (CAPS) is a rare inherited autoinflammatory disease caused by gain-of-function mutations in the NLRP3 gene, with a genotype-phenotype correlation. The clinical presentation of each mutation has been previously studied. However, very few studies have reported on the clinical characteristics and treatment effectiveness across different generations within a family with the same mutation. A detailed investigation of family members of patients with CAPS may help in the appropriate diagnosis and treatment of undiagnosed CAPS. Herein, we report a 2-year-old boy (proband), his father, and his grandmother who presented with several symptoms of CAPS, such as persistently positive inflammatory reactions and hearing impairment. All three patients had the same pathogenic mutation in the NLRP3 gene (c.1049C>T (p.Thr350Met) heterozygous mutation) and were diagnosed with CAPS. With canakinumab treatment, the laboratory data of all three patients improved, the proband and father’s skin rash disappeared, and his grandmother’s arthropathy improved. The proband’s hearing also showed slight improvement, but not in his father or grandmother. Among the various non-specific symptoms associated with CAPS, chronic ocular hyperemia is a finding that can be easily identified by non-ophthalmologists. Diagnosis of CAPS should be considered when eye symptoms are present in a combination of hyperinflammatory response, arthropathy, or skin symptoms. Thorough family history records, physical examinations, and close collaboration between pediatricians and adult rheumatologists are important for prompt diagnosis and appropriate treatment of inherited autoinflammatory diseases.

Symptomatology and Clinical Features of Human COVID-19

Severe Acute Respiratory Syndrome Virus 2 (SARS-CoV-2) is the causative agent of coronavirus disease 2019 (COVID-19), which was identified at the end of December 2019 in China. Symptoms of COVID-19 can appear after an incubation phase of the virus of 2 to 14 days, the most common being fever, cough, and asthenia. Other specific symptoms may include shortness of breath or difficulty breathing, muscle pain, sore throat, chills, loss of smell or sensation, chest pain, headache, nausea, rash, diarrhea, and vomiting. The severity of these symptoms can be mild or even extreme causing serious damage to several organs, directly and indirectly, namely pulmonary, renal, hepatic, cardiac, digestive, neurological. Some people have only mild symptoms, while others are asymptomatic. Seniors or those at risk for certain chronic diseases, such as massive obesity, diabetes, heart disease, lung disease, kidney disease, immune system abnormalities, and liver disease are more susceptible to COVID-19 and can develop more serious and fatal complications.

Feline pulmonary nematodes; new challenges for veterinary practitioners

Pulmonary parasitic diseases have become a frequent feline condition. Aelurostrongylus abstrusus, Troglostrongylus brevior and Capillaria aerophila appear to be the main pathogenic factors. Felines that are affected may display respiratory as well as non-specific symptoms. Diagnostic methods include copromicroscopic, serological and molecular detection, whereas the treatment should be both symptomatic and elective.

Anxiety in Angelman Syndrome

Angelman Syndrome (AS) is a neurodevelopmental disorder most commonly caused by the impaired expression of the maternal UBE3A gene on chromosome 15. Though anxiety has been identified as a frequently present characteristic in AS, there are limited studies examining anxiety in this population. Studies of anxiety in other neurodevelopmental disorders have found disorder specific symptoms of anxiety and age specific displays of anxiety symptoms. However, there is a consistent challenge in identifying anxiety in people with neurodevelopmental disorders given the lack of measurement instruments specifically designed for this population. Given the limited information about AS and anxiety, the aims of the current project were to (a) examine symptoms of anxiety in children with AS and (b) determine the correlates of anxiety in children with AS. Participants included 42 adult caregivers of youth with AS in the AS Natural History study who completed the Developmental Behavior Checklist (DBC). The results found that 26% of the sample demonstrated elevated symptoms of anxiety and established a relationship between elevated anxiety in youth with AS and higher levels of irritability, hyperactivity, self-absorbed behaviors, and disruptive/antisocial behaviors. Findings from this research provide a foundation for tailoring evidence-based assessments and treatments for youth with AS and anxiety.