Redefining Lobe-Wise Ground-Glass Opacity in COVID-19 Through Deep Learning and its Correlation With Biochemical Parameters.

During COVID-19 pandemic qRT-PCR, CT scans and biochemical parameters were studied to understand the patients' physiological changes and disease progression. There is a lack of clear understanding of the correlation of lung inflammation with biochemical parameters available. Among the 1136 patients studied, C-reactive-protein (CRP) is the most critical parameter for classifying symptomatic and asymptomatic groups. Elevated CRP is corroborated with increased D-dimer, Gamma-glutamyl-transferase (GGT), and urea levels in COVID-19 patients. To overcome the limitations of manual chest CT scoring system, we segmented the lungs and detected ground-glass-opacity (GGO) in specific lobes from 2D CT images by 2D U-Net-based deep learning (DL) approach. Our method shows accuracy, compared to the manual method (  âˆ¼ 80%), which is subjected to the radiologist's experience. We determined a positive correlation of GGO in the right upper-middle (0.34) and lower (0.26) lobe with D-dimer. However, a modest correlation was observed with CRP, ferritin and other studied parameters. The final Dice Coefficient (or the F1 score) and Intersection-Over-Union for testing accuracy are 95.44% and 91.95%, respectively. This study can help reduce the burden and manual bias besides increasing the accuracy of GGO scoring. Further study on geographically diverse large populations may help to understand the association of the biochemical parameters and pattern of GGO in lung lobes with different SARS-CoV-2 Variants of Concern's disease pathogenesis in these populations.

Scrub Typhus in Paediatric Age Group at a Tertiary Care Centre of Eastern India: Clinical, Biochemical Profile and Complications.

Background: Scrub typhus is a reemerging zoonosis, which presents as acute febrile illness. Very few paediatric prospective studies on this disease are reported from Eastern India. This prospective observational study was carried out to study the clinical presentation, diagnosis, complications and immediate outcome of Scrub typhus in paediatric population in a tertiary care hospital from Eastern India. Material and Methods: Totally 209 cases between 1 month and 18 years of age were included. Clinical manifestations, laboratory parameters and immediate outcome of all patients were recorded. All the data were collected and plotted in Microsoft Excel master chart. Continuous data were presented as mean ± standard deviation (SD) and categorical data as frequency and percentage. All the data analysis was performed using statistical software IBM Statistical Package for the Social Sciences (SPSS) version 20.0. Results: Highest number of cases (41.1%) were found between 1 year and 5 years age group. Fever was the presenting complaint in all cases. Other common symptoms were cough (34%), pain abdomen (23.4%), vomiting (23%), seizure (11.5%) and altered sensorium (9.6%). Hepatomegaly was found in 56.5% and splenomegaly in 39.7% cases. Eschar was found in 27.3% cases. C-reactive protein was elevated (>10 mg/L) in 93.3% children. Other complications were pneumonitis (20.6%), meningoencephalitis (12.4%), septic shock (8.6%), acute respiratory distress syndrome (5.7%), myocarditis (4.8%) and acute kidney injury (4.3%). Mortality was low (1%). Conclusion: Scrub typhus is not uncommon in paediatric population and it must be considered as a close differential diagnosis of any acute febrile illness even when classical clinical presentations are not found. Early treatment results in favourable outcome.

Chromosome 1p31.1 Deletion Syndrome: Limited Expression.

Chromosomal microdeletion syndromes usually present with neurological abnormalities, developmental delays, and various systemic abnormalities. 1p31 microdeletion syndrome is one of the novel microdeletion syndromes that usually presents with developmental delay, intellectual disability, various craniofacial abnormalities, and other systemic abnormalities in a proportion of cases. NEGR1 and NFIA are few of the genes present in this locus responsible for these symptoms. However, none of the reported cases had only isolated intellectual disability. Here, we are reporting a case of 1p31 microdeletion syndrome with isolated moderate intellectual disability and hyperactivity in an 11-year-old boy. It is essential for clinicians to be aware of such an atypical presentation of 1p31.1 microdeletion syndrome, to maintain reasonable clinical suspicion in cases with unexplained intellectual disability.

Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.

BACKGROUND: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is an extremely rare autosomal recessive disorder with variable expressivity, caused by biallelic mutations in the PTRH2 gene. Core features are global developmental delay or isolated speech delay, intellectual disability, sensorineural hearing loss, ataxia, and pancreatic insufficiency (both exocrine and endocrine). Additional features may include postnatal microcephaly, peripheral neuropathy, facial dysmorphism, and cerebellar atrophy. In literature, there are only a few anecdotal case reports and none of the previous cases presented with diabetic ketoacidosis. METHODS: We are reporting a 12-year old adolescent girl with mild intellectual disability who presented with fever, pain abdomen for 2 days, and fast breathing for one day. RESULTS: Her random blood sugar was 472 mg/dl and arterial blood gas revealed high anion gap metabolic acidosis. Urine examination showed ketonuria. On further evaluation, she was found to have demyelinating sensorimotor polyneuropathy and sensorineural hearing loss. Neuroimaging and other ancillary investigations were normal. Whole exome sequencing revealed a novel homozygous single base pair duplication in exon 1 of the PTRH2 gene (c.127dupA, p.Ser43LysfsTer11), confirming the diagnosis of IMNEPD. CONCLUSIONS: Apart from describing a novel single base pair duplication causing protein truncation in the PTRH2 gene for the first time, our case also expanded the clinical spectrum of IMNEPD, as this is the first case with seemingly pure neurodevelopmental phenotype, who later developed diabetes mellitus, without any exocrine pancreatic abnormality. IMNEPD should be considered in children or adolescents with global developmental delay or intellectual disability when they develop diabetes mellitus.

Oxidative stress, antioxidant capacity, biomolecule damage, and inflammation symptoms of sickle cell disease in children.

BACKGROUND: The phenotypic expression of sickle cell disease (SCD) is a complex pathophysiologic condition. However, sickle erythrocytes might be the cause for multiple sources of pro-oxidant processes with consequent linked to chronic and systemic oxidative stress. Herein, we explored the SCD phenomena could be the result in formation of oxidative stress as well as inflammation in children. MATERIAL AND METHODS: Blood samples of 147 SCD subjects were evaluated. A control group was formed of 156 individuals without SCD. Different oxidative stress markers and inflammatory mediators were measured by using various biochemical techniques. Plasma samples were collected from blood for the measurement of antioxidants and reactive oxygen species (ROS). RESULTS: The levels of plasma hydroxyl radical (HO•), and nitric oxide (NO) production were higher in SCD children in compared to control groups. The plasma antioxidants capacities such as superoxide dismutase (SOD), catalase (CAT), glutathione (GSH), glutathione peroxidase (GPx) and protein thiol levels were significantly reduced in SCD children. The plasma lipid peroxidation, protein carbonylation, DNA damage markers were significantly altered in different age groups of SCD children. Further, our results showed that SCD children have chronic inflammatory disease due to persistent alteration of haemoglobin content, reticulocyte, total bilirubin, platelet, creatinine, leukocytes, and altered expression of inflammatory mediators in compared to control groups. CONCLUSION: SCD children have high oxidative stress, and conversely, decreased antioxidant activity. Decrease in antioxidant activity might explained the reduction in lipid peroxidation, protein carbonylation and increased inflammation, which in turn intensify the symptoms of SCD in children.