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1.
Sci Rep ; 14(1): 10769, 2024 05 10.
Artículo en Inglés | MEDLINE | ID: mdl-38730071

RESUMEN

In the modern day, multimedia and digital resources play a crucial role in demystifying complex topics and improving communication. Additionally, images, videos, and documents speed data administration, fostering both individual and organizational efficiency. Healthcare providers use tools like X-rays, MRIs, and CT scans to improve diagnostic and therapeutic capacities, highlighting the importance of these tools in contemporary communication, data processing, and healthcare. Protecting medical data becomes essential for maintaining patient confidentiality and service dependability in a time when digital assets are crucial to the healthcare industry. In order to overcome this issue, this study analyses the DWT-HD-SVD algorithm-based invisible watermarking in medical data. The main goal is to verify medical data by looking at a DWT-based hybrid technique used on X-ray images with various watermark sizes (256*256, 128*128, 64*64). The algorithm's imperceptibility and robustness are examined using metrics like Peak Signal-to-Noise Ratio (PSNR) and Structural Similarity Index (SSIM) and are analyzed using Normalized Connection (NC), Bit Error Rate (BER), and Bit Error Rate (BCR) in order to evaluate its resistance to various attacks. The results show that the method works better with smaller watermark sizes than it does with larger ones.


Asunto(s)
Algoritmos , Seguridad Computacional , Humanos , Confidencialidad , Relación Señal-Ruido
2.
J Neuroimmunol ; 371: 577952, 2022 10 15.
Artículo en Inglés | MEDLINE | ID: mdl-36030644

RESUMEN

BACKGROUND/OBJECTIVES: Patients with primary antibody deficiency (PAD) are predisposed to develop meningoencephalitis, often considered to be enteroviral. However, there is a paucity of literature on this subject, and there are no studies from developing countries. METHODS: We analyzed our cohort of children with PAD who developed meningoencephalitis. RESULTS: This complication was observed in 13/135 (10.4%) patients with PAD - 5 patients had X-linked agammaglobulinemia (XLA), 7 had common variable immunodeficiency (CVID) and 1 had suspected nuclear factor kappa B essential modulator (NEMO) defect. Mean age at onset of neurological illness was 9.3 years. Presenting features included seizures (n=8), neurodevelopmental delay (n=2), regression of milestones (n=2), and acute flaccid paralysis (n=1). Trough IgG levels were found to be low in 12/13 patients at the time of development of neurological symptoms. Herpes simplex virus (HSV), cytomegalovirus (CMV), and Streptococcus pneumoniae were isolated in 1 each. Eight (72.7%) patients had altered signal hyperintensities in gray matter and deep white matter on magnetic resonance imaging (MRI), while 4 patients showed global cerebral atrophy. All patients were treated with high-dose intravenous immunoglobulin (IVIg). Fluoxetine was given to 3 patients. Eight patients in the present series have died, 3 have recovered with varying degrees of neurological sequelae and 2 patients are showing gradual recovery. CONCLUSIONS: To conclude, meningoencephalitis is an uncommon complication in patients with PAD and is associated with high morbidity and mortality. Early diagnosis of immune deficiency and initiation of replacement immunoglobulin therapy may prevent the development of neurological complications.


Asunto(s)
Agammaglobulinemia , Enfermedades Genéticas Ligadas al Cromosoma X , Meningoencefalitis , Enfermedades de Inmunodeficiencia Primaria , Agammaglobulinemia/complicaciones , Agammaglobulinemia/terapia , Niño , Enfermedades Genéticas Ligadas al Cromosoma X/complicaciones , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/tratamiento farmacológico , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico
3.
Mol Biol Rep ; 49(8): 7399-7407, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35587845

RESUMEN

BACKGROUND: Kawasaki disease (KD) is the commonest systemic vasculitis in children. It predisposes to development of coronary artery abnormalities (CAAs). Thrombomodulin (THBD) gene polymorphism rs1042579 is associated with high risk of cerebrovascular diseases. However, association of THBD polymorphism (rs1042579) and plasma thrombomodulin (TM) levels with susceptibility to KD and CAAs remains unclear. METHODS AND RESULTS: Polymorphism in THBD gene (rs1042579) was analysed in 50 KD patients and 50 age, gender and ethnicity matched controls using Sanger sequencing. Plasma TM levels were measured by ELISA. RESULTS: Mean plasma TM level (± SD) in KD patients was 2549.41 (± 853.18) pg/ml and in controls was 2298.03 (± 869.14) pg/ml; p = 0.042. Mean plasma TM levels in CC genotype was 2299.98 (± 834.88) pg/ml and in CT/TT genotype was 2837.96 (± 857.14) pg/ml; p = 0.005. Genotyping data did not reveal significant differences in patients with KD as compared to controls (p = 0.25), and in KD patients with and without CAAs (p = 0.407). Odds of finding T allele in cases were 2.07 times greater than in controls (p = 0.093). CONCLUSIONS: This is the first study from India, and second in the world, that investigates association of THBD gene polymorphism with KD. This is also the first study to assess plasma TM levels in KD patients. Our data show that plasma TM levels were significantly higher in KD patients with CT/TT genotypes. Further, the polymorphism rs1042579 at exon 1 of THBD gene was found to be more common in KD patients than in controls although the difference was not statistically significant.


Asunto(s)
Enfermedad de la Arteria Coronaria , Síndrome Mucocutáneo Linfonodular , Trombomodulina , Niño , Predisposición Genética a la Enfermedad , Genotipo , Humanos , India , Síndrome Mucocutáneo Linfonodular/complicaciones , Síndrome Mucocutáneo Linfonodular/genética , Polimorfismo de Nucleótido Simple , Trombomodulina/genética
4.
Sci Rep ; 12(1): 4036, 2022 03 08.
Artículo en Inglés | MEDLINE | ID: mdl-35260754

RESUMEN

Germline ATM gene variations result in phenotypic heterogeneity characterized by a variable degree of disease severity. We retrospectively collected clinical, genetic, and immunological data of 26 cases with A-T. Clinical manifestations included oculocutaneous telangiectasia (100%), ataxia (100%), fever, loose stools or infection (67%), cerebellar atrophy (50%), nystagmus (8%), dysarthria (15.38%), and visual impairment (8%). Genetic analysis confirmed ATM gene variations in 16 unrelated cases. The most common type of variation was stopgain variants (56%). Immunoglobulin profile indicated reduced IgA, IgG, and IgM in 94%, 50%, and 20% cases, respectively. T cell lymphopenia was observed in 80% of cases among those investigated. Unusual presentations included an EBV-associated smooth muscle tumour located in the liver in one case and Hyper IgM syndrome-like presentation in two cases. Increased immunosenescence was observed in T-cell subsets (CD4+CD57+ and CD8+CD57+). T-cell receptor excision circles (TRECs) were reduced in 3/8 (37.50%) cases.


Asunto(s)
Ataxia Telangiectasia , Síndrome de Inmunodeficiencia con Hiper-IgM , Ataxia Telangiectasia/genética , Proteínas de la Ataxia Telangiectasia Mutada/genética , Humanos , Mutación , Estudios Retrospectivos , Subgrupos de Linfocitos T
5.
J Family Med Prim Care ; 11(12): 7920-7925, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36994004

RESUMEN

Aim: To assess distress, insomnia, and psychosocial impact of SARS-CoV-2 outbreak on children with SLE and their caregivers. Methods: Patients with pSLE undergoing treatment in the Department of Pediatrics, PGIMER, Chandigarh, and their caregivers were enrolled. Questionnaires were sent to eligible patients and their parents through email or WhatsApp and telephonic interviews were conducted. Self-designed SLE-COVID-19 stress questionnaire; Peritraumatic Distress Inventory; Insomnia Severity Index, Positive and Negative Affect Schedule were used. Ethical approval was sought from Institutes Ethics Committee (IEC/2020/000583). Results: Telephonic connection was possible with 80 families (160 participants). Telephonic contact was possible with 80 families (160 participants); off these 61 children with pSLE (78.2%) and 55 caregivers (70.5%) responded to the questionnaire. Among participants, 23% patients, and 21.8% caregivers were severely stressed about SARS-CoV-2 infection; 78.7% patients and 80% caregivers had heard about hydroxychloroquine (HCQ) being used for the treatment of COVID-19; 52.7% caregivers exhibited moderate concern about shortage of HCQ; and 52.5% patients, and 43.6% caregivers were worried about side effects of HCQ. We found that 20 (32.8%) patients and 18 (32.7%) caregivers experienced significant distress. Majority of participants reported sleep disturbances. High positive affect scores were seen in 40 (65.5%) patients and 43 (78.2%) caregivers, low positive affect scores were noted in 21 (34.5%) patients and 12 (21.8%) caregivers. Conclusion: Patients with pSLE and their caregivers are at risk of psychosocial problems during the COVID-19 pandemic. Psychological interventions can be very helpful.

6.
Indian J Pediatr ; 88(11): 1139-1141, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-34287798

RESUMEN

In this hospital-based, cross-sectional study, immunoglobulin levels and lymphocyte subsets status were evaluated in children with infantile tremor syndrome (ITS) [neurocutaneous infantile B12 deficiency (NIB) syndrome]. Blood samples were drawn at the baseline (n = 28) and at 6 wk (n = 25) after treatment. A low IgG/IgA or IgM was more likely in untreated children than post-treatment (p = 0.0368). Low B cells were observed in 9 (36%), low T cells in 5 (20%), and low NK cells in 2 patients. T cell subset analysis showed low CD4 + helper T cells in 5 (20%) and low CD8 + cytotoxic T cells in 2 patients. Abnormally low percentage of low B cell/T cells/NK cells was more likely in untreated children than post-treatment (p = 0.0165). In conclusion, a proportion of children with ITS have changes in immunoglobulin and T cell subsets not consistent with any clearly defined immune abnormality, and not all such changes revert at 6 wk.


Asunto(s)
Subgrupos Linfocitarios , Temblor , Niño , Estudios Transversales , Humanos , Inmunoglobulinas , Recuento de Linfocitos , Subgrupos de Linfocitos T
7.
Front Pediatr ; 9: 673294, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34249810

RESUMEN

Kawasaki disease (KD) is a common febrile multisystemic inflammatory illness in children that preferentially affects coronary arteries. Children with KD who develop coronary artery aneurysms have a life-long risk of premature coronary artery disease. Hypothesis of inherent predisposition to KD is supported by epidemiological evidence that suggests increased risk of development of disease in certain ethnicities and in children with a previous history of KD in siblings or parents. However, occurrence of cases in clusters, seasonal variation, and very low risk of recurrence suggests an acquired trigger (such as infections) for the development of illness. Epigenetic mechanisms that modulate gene expression can plausibly explain the link between genetic and acquired predisposing factors in KD. Analysis of epigenetic factors can also be used to derive biomarkers for diagnosis and prognostication in KD. Moreover, epigenetic mechanisms can also help in pharmacogenomics with the development of targeted therapies. In this review, we analysed the available literature on epigenetic factors such as methylation, micro-RNAs, and long non-coding RNAs in KD and discuss how these mechanisms can help us better understand the disease pathogenesis and advance the development of new biomarkers in KD.

10.
Pediatr Infect Dis J ; 40(8): e312-e313, 2021 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-33941741

RESUMEN

A spectrum of dermatologic manifestations has been reported in multisystem inflammatory syndrome in children associated with SARS-CoV-2 infection. We report 2 patients with multisystem inflammatory syndrome in children and severe cardiovascular dysfunction who developed acral gangrene. Both responded well to therapy and recovered in the follow-up.


Asunto(s)
COVID-19/patología , Gangrena/virología , Síndrome de Respuesta Inflamatoria Sistémica/patología , COVID-19/diagnóstico por imagen , COVID-19/fisiopatología , COVID-19/virología , Niño , Familia , Gangrena/diagnóstico por imagen , Gangrena/patología , Gangrena/fisiopatología , Humanos , Masculino , SARS-CoV-2/aislamiento & purificación , Síndrome de Respuesta Inflamatoria Sistémica/diagnóstico por imagen , Síndrome de Respuesta Inflamatoria Sistémica/fisiopatología , Síndrome de Respuesta Inflamatoria Sistémica/virología
11.
Immunobiology ; 226(3): 152075, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33711641

RESUMEN

Cold agglutinin disease (CAD) is extremely rare in children. We report an 8-year-old boy who presented with gangrene of right foot with hypertension and absent lower limb pulses. Blood peripheral smear evidence of autoagglutination and falsely elevated red blood cell indices were suggestive of CAD and on subsequent investigations he was found to have high titres of cold agglutinin antibodies. He also had evidence of pneumonia on chest X-ray and serology for mycoplasma was positive. Computed tomography angiography showed multifocal thrombotic occlusion in bilateral popliteal arteries. He was effectively managed using antimicrobials, warm clothing, aspirin, anticoagulation and corticosteroids. He remains clinically well on follow-up and had no recurrence. CAD presenting with peripheral gangrene is extremely unusual. A careful look at peripheral blood smear gives an initial diagnostic clue. CAD triggered by infection is often self-limiting and requires supportive care.


Asunto(s)
Anemia Hemolítica Autoinmune/complicaciones , Anemia Hemolítica Autoinmune/etiología , Gangrena/complicaciones , Infecciones por Mycoplasma/complicaciones , Infecciones por Mycoplasma/microbiología , Trombosis/diagnóstico , Trombosis/etiología , Pruebas de Aglutinación , Anemia Hemolítica Autoinmune/diagnóstico , Antibacterianos/uso terapéutico , Anticoagulantes/uso terapéutico , Biomarcadores , Niño , Crioglobulinas/inmunología , Pie/patología , Gangrena/diagnóstico , Gangrena/tratamiento farmacológico , Gangrena/etiología , Humanos , Masculino , Infecciones por Mycoplasma/tratamiento farmacológico , Radiografía Torácica , Trombosis/terapia , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
13.
Rheumatol Int ; 41(10): 1875-1882, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32813152

RESUMEN

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare familial arthropathy of childhood, commonly misdiagnosed as juvenile idiopathic arthritis. It is characterized by non-inflammatory arthropathy, coxa vara deformity, and sterile pericarditis. We describe two children with CACP syndrome who were referred to the rheumatology clinic for the suspicion of inflammatory arthritis. A literature search was carried out using PubMed/ Medline and Embase databases. English language reports of mutation-proven cases of CACP syndrome reported until 31 March 2020 were retrieved and analysed. Both the children had a delay in diagnosis (age at diagnosis- 12 and 13 years, respectively) and had received immunomodulatory therapy for suspected inflammatory arthritis. Presence of symmetrical arthropathy of large joints, camptodactyly, and normal inflammatory parameters are clues that indicated CACP syndrome. One child with a novel variant in PRG4 also had associated mitral valve prolapse and regurgitation. Both had severe constrictive pericarditis requiring pericardiectomy. On literature review, a total of 98 mutation-proven cases of CACP syndrome have been reported till date. Arthropathy in CACP syndrome mainly involves knees, wrists, ankles, and hips. Pericarditis is usually mild, however, can present rarely with severe symptoms requiring surgical intervention. CACP syndrome can closely mimic inflammatory arthritis and early clinical recognition is important to avoid misdiagnosis. Molecular confirmation is essential for early diagnosis and future genetic counselling for affected families.


Asunto(s)
Artropatía Neurógena/diagnóstico , Coxa Vara/diagnóstico , Deformidades Congénitas de la Mano/diagnóstico , Sinovitis/diagnóstico , Adolescente , Artritis Juvenil/diagnóstico , Artropatía Neurógena/patología , Niño , Consanguinidad , Coxa Vara/patología , Diagnóstico Diferencial , Femenino , Deformidades Congénitas de la Mano/patología , Humanos , Masculino , Mutación , Proteoglicanos , Sinovitis/patología
14.
Lupus ; 30(1): 141-148, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33086918

RESUMEN

Neonatal Antiphospholipid syndrome (APS) is a rare disease related to transplacental passage of antiphospholipid (aPL) antibodies from the mother or de novo production of aPL in a newborn. Neonatal aPL antibodies have rarely been associated with thrombosis. We describe a 5-week-old infant who developed fever, portal vein thrombosis and livedo reticularis like skin rash. Evaluation for thrombosis revealed high titers of antiphospholipid (aPL) antibodies (dual positive) in the child without any evidence of aPL antibodies in the mother, suggesting a de novo production in the child. Autopsy findings revealed umbilical vein sepsis with thrombosis of portal vein secondary to gram positive cocci which led to multiple liver and lung abscesses. Additionally, the baby had disseminated Cytomegalovirus (CMV) disease (acquired postnatally) involving walls of umbilical and portal vein, liver, lungs, adrenals, pancreas, thymus, and kidneys. Our case highlights the need for testing of aPL in every neonate with arterial or venous thrombosis even when the mother may have no features suggestive of an autoimmune disease.


Asunto(s)
Anticuerpos Antifosfolípidos/sangre , Síndrome Antifosfolípido/inmunología , Livedo Reticularis/inmunología , Trombosis de la Vena/inmunología , Síndrome Antifosfolípido/patología , Autopsia , Resultado Fatal , Femenino , Humanos , Recién Nacido , Livedo Reticularis/patología , Vena Porta , Sepsis/patología , Trombosis de la Vena/patología
15.
Neurosurg Rev ; 44(4): 2291-2298, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-33089448

RESUMEN

Despite widespread popularity of navigation and angled endoscopes in endonasal endoscopy, there are hardly few studies on their efficacy with the extent of resection or retreatment. This is probably the first study to assess the independent impact of these adjuncts among pituitary tumors. Patients with pituitary tumors undergoing endonasal endoscopy were prospectively studied for their demographics, clinico-radiological features, intraoperative use of navigation, and angled endoscopes, in relation to gross total resection (GTR), near total resection (NTR), endocrine remission, and retreatment. Pertinent statistical analyses were performed. Among a total of 139 patients, navigation and angled endoscopes could be used in 54 and 48 patients, respectively, depending upon their availability rather than chosen as per the case. There was no significant difference in baseline characteristics in relation to their use. The surgeon's perception of immediate benefit was noted among 51.9% while using navigation. The use of angled endoscopes towards the end of resection could help with additional tumor removal in 62.5% of patients. Overall, the use of navigation resulted in a significantly higher GTR (80.8% vs. 59.7%, OR 2.83, p = 0.01), a higher GTR/NTR (86.5% vs. 70.8%, OR 2.65, p = 0.04), and a lower retreatment rate (7.7% vs. 20.8%, OR 3.15, p = 0.05) than the others. In functioning tumors with cavernous sinus invasion, navigation had significantly increased remission rates (69.2% vs. 0%, p = 0.03). The use of angled endoscopes yielded a significantly higher GTR/NTR (91.7% vs. 70.6%, p = 0.04) and a lower retreatment rate (0% vs. 15.7%, p = 0.05) among only non-functioning adenomas. In multivariate analyses, the use of neuronavigation had a significant association with both GTR and retreatment rates (p values 0.005 and 0.02 respectively), independent of other confounding factors. The elective intraoperative use of navigation has a significant independent impact on the extent of resection and retreatment overall. While navigation results in better remission rates among functioning tumors with cavernous sinus invasion, angled endoscopy has a significant association with surgical outcomes in non-functioning tumors.


Asunto(s)
Neoplasias Hipofisarias , Endoscopios , Endoscopía , Humanos , Neoplasias Hipofisarias/cirugía , Estudios Prospectivos , Resultado del Tratamiento
17.
J Allergy Clin Immunol Pract ; 9(2): 771-782.e3, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33259975

RESUMEN

BACKGROUND: Chronic granulomatous disease (CGD) is an inherited defect in components of the nicotinamide adenine dinucleotide phosphate oxidase complex that results in potential life-threatening infective and noninfective complications. Hemophagocytic lymphohistiocytosis (HLH) is an unusual but important inflammatory complication of CGD. Optimal management strategies have not yet been identified in children with CGD who develop HLH. OBJECTIVE: To analyze clinical and laboratory features of HLH in CGD from a tertiary-care center in North India. METHODS: A retrospective review of medical records of children with CGD diagnosed in the last 20 years was performed. Clinical and laboratory features of children with CGD who developed HLH were analyzed. RESULTS: Of 80 patients diagnosed with CGD, 5 (6.25%) had evidence of HLH. All 5 were males; 4 had X-linked CGD and 1 had autosomal recessive CGD (NCF2 defect). Two children with CGD had HLH as the predominant presenting manifestation mimicking the clinical presentation of congenital HLH. Infectious triggers identified were bloodstream infections (n = 3) (Candida albicans, Burkholderia cenocepacia, Francisella noatuensis), pneumonia (n = 4), and splenic abscess (n = 1). We document the first human infection with a fish pathogen, F. noatuensis, in a child with X-linked CGD. Although mortality was seen in 3 children who received only intravenous (IV) immunoglobulin therapy, the other 2 who received IV methylprednisolone pulse therapy survived. CONCLUSION: HLH can be a presenting manifestation of CGD, and workup for CGD must be considered in children with HLH. Early recognition with optimal management of both infectious trigger and HLH is very important to prevent mortality.


Asunto(s)
Enfermedad Granulomatosa Crónica , Linfohistiocitosis Hemofagocítica , Enfermedades del Bazo , Niño , Femenino , Enfermedad Granulomatosa Crónica/genética , Humanos , India , Linfohistiocitosis Hemofagocítica/diagnóstico , Linfohistiocitosis Hemofagocítica/tratamiento farmacológico , Masculino , Estudios Retrospectivos
19.
BMJ Case Rep ; 13(11)2020 Nov 09.
Artículo en Inglés | MEDLINE | ID: mdl-33168533

RESUMEN

Primary iliopsoas abscess (IPA) in infants is an uncommon condition. It presents as inguinal or thigh swelling with limitation of movements on the affected side. Early detection and timely drainage of the abscess can prevent serious complications related to the dissemination of infection. We report a case of primary IPA due to methicillin-sensitive staphylococcal infection presenting as a left lumbar mass in an immune-competent infant. The abscess was detected in time, drained surgically and treated with cloxacillin for 4 weeks, thereby preventing serious complications.


Asunto(s)
Absceso del Psoas/diagnóstico , Infecciones Estafilocócicas/diagnóstico , Antibacterianos/uso terapéutico , Diagnóstico Diferencial , Drenaje/métodos , Humanos , Lactante , Masculino , Absceso del Psoas/terapia , Tomografía Computarizada por Rayos X
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