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Introduction: Childhood malignancy, although a rare phenomenon, is still the leading cause of mortality in the pediatric population. Early diagnosis and treatment are imperative for the achievement of optimal prognosis. The study of factors facilitating the delay in diagnosis is thus of utmost importance, to both shorten the diagnostic delay and allow for early therapeutic intervention, facilitating a higher prognosis.
Objective: To assess the referral pattern and the identification of potential delays in the diagnosis of childhood malignancy in a developing country.
Methodology: The study was conducted in the Pediatric Hematology and Oncology department of Sri Ramachandra University, Chennai, India. The study included randomly selected 70 pediatric patients diagnosed with a hematological malignancy, from July 2012-August 2013. The parents were interviewed using a prepared questionnaire about patient symptomatology, interaction with healthcare providers, final diagnosis, and referral details. Data were statistically analyzed using Statistica (STATsoft).
Results: 70 patients were included in the study (69% boys, 31% girls). The diagnostic delay was primarily due to the delay experienced in the healthcare system, with a mean delay of 26 days (Median: 18; Range: 5-39). Those from a lower socioeconomic background and whom opted for a non-allopathic treatment approach experienced higher diagnostic delays. Diagnostic time was significantly shorter for those who visited a pediatrician versus the patients who visited a general physician or super specialties ( = 0.043).
Conclusions: Diagnostic delay is often associated with an extensive disease presentation, an aggressive therapeutic approach, and has a negative impact on patient prognosis. To lower mortality rate and facilitate a favourable prognosis, diagnosis requires a high degree of clinical suspicion and immediate intervention.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5379890 | PMC |
http://dx.doi.org/10.4103/2278-330X.202559 | DOI Listing |
Mol Genet Genomics
December 2024
Department of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the formation of benign tumors in various organs, particularly in the central nervous system. We aimed to delineate the molecular profile of Turkish individuals diagnosed with TSC by analyzing the TSC1 and TSC2 genes using next-generation sequencing (NGS). Sophia Genetics' Sophia Inherited Disease Panel was used to perform NGS on 22 individuals diagnosed with TSC and to identify pathogenic variants in the TSC1 and TSC2 genes.
View Article and Find Full Text PDFAm J Hum Genet
December 2024
Department of Genetics, CHU Sainte-Justine, Montréal, QC, Canada. Electronic address:
E3 ubiquitin ligases have been linked to developmental diseases including autism, Angelman syndrome (UBE3A), and Johanson-Blizzard syndrome (JBS) (UBR1). Here, we report variants in the E3 ligase UBR5 in 29 individuals presenting with a neurodevelopmental syndrome that includes developmental delay, autism, intellectual disability, epilepsy, movement disorders, and/or genital anomalies. Their phenotype is distinct from JBS due to the absence of exocrine pancreatic insufficiency and the presence of autism, epilepsy, and, in some probands, a movement disorder.
View Article and Find Full Text PDFOchsner J
January 2024
Department of Otolaryngology - Head and Neck Surgery, Tulane University, New Orleans, LA.
Patients and providers vary in how they describe common otolaryngology-related complaints. These differences can lead to miscommunication and frustration that may affect patient outcomes and satisfaction. The aim of this cross-sectional survey-based study was to explore the differences in migraine symptom selection by otolaryngology patients and clinicians.
View Article and Find Full Text PDFFront Immunol
December 2024
Department of Radiology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, China.
Objective: Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A) is a novel steroid sensitive autoimmune disease, without a diagnostic consensus. The purpose of this study was to improve early GFAP-A diagnosis by increasing awareness of key clinical characteristics and imaging manifestations.
Methods: Medical records of 13 patients with anti-GFAP antibodies in serum or cerebrospinal fluid (CSF) were reviewed for cross-sectional and longitudinal analysis of clinical and magnetic resonance imaging (MRI) findings.
Front Med (Lausanne)
December 2024
One Health Research Group, Univerisdad de las Americas, Quito, Ecuador.
Background: Iron overload disorders, including hereditary hemochromatosis (HH), are characterized by excessive iron accumulation, which can cause severe organ damage. HH is most associated with the C282Y mutation in Caucasian populations, but its prevalence and genetic profiles in Latin American populations remain underexplored.
Objectives: To describe the clinical manifestations, genetic profiles, and biochemical characteristics of patients with suspected iron overload disorders in a specialized hematology center in Cali, Colombia.
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