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1.
Int Arch Allergy Immunol ; 185(4): 370-381, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38194943

RESUMO

INTRODUCTION: X-linked lymphoproliferative syndrome (XLP) is a rare primary immune deficiency. Two types of XLP have been described: XLP-1 and XLP-2. METHODS: We found 7 patients with XLP (3 had XLP-1 and 4 had XLP-2) after reviewing the data from Pediatric Immunodeficiency Clinic from 1997 to 2021. RESULTS: Mean age at diagnosis was 3.8 years, and mean delay in diagnosis was 2.6 years. Five patients had recurrent episodes of infections. Four patients developed at least one episode of hemophagocytic lymphohistiocytosis (HLH) (2 with XLP-1 and 2 with XLP-2). Of these, 2 had recurrent HLH (both with XLP-2). Epstein-Barr virus (EBV) infection was detected in 2 (1 with XLP-1 and 1 with XLP-2). Both these patients had HLH. One child with XLP-2 had inflammatory bowel disease. Hypogammaglobulinemia was seen in 3 (2 with XLP-1 and 1 with XLP-2). Genetic analysis showed previously reported variants in 5, while 2 had novel variants (one in exon 7 of XIAP gene [c.1370dup p.Asn457Lysfs Ter16] and other had splice site variant in intron 1 of SH2D1A gene [c.138-2_138-1insG]). Episodes of HLH were managed with intravenous immunoglobulin (IVIg), methylprednisolone, oral prednisolone, cyclosporine, and rituximab. Inflammatory bowel disease was managed using oral prednisolone and azathioprine. One patient underwent haploidentical hematopoietic stem cell transplantation. One child with XLP-2 and WAS died because of fulminant pneumonia. DISCUSSION/CONCLUSIONS: XLP should be considered as a strong possibility in any patient with features of HLH, repeated infections with hypogammaglobulinemia, persistent EBV infection, and early-onset IBD.


Assuntos
Agamaglobulinemia , Infecções por Vírus Epstein-Barr , Doenças Inflamatórias Intestinais , Linfo-Histiocitose Hemofagocítica , Transtornos Linfoproliferativos , Criança , Humanos , Agamaglobulinemia/diagnóstico , Agamaglobulinemia/genética , Agamaglobulinemia/terapia , Infecções por Vírus Epstein-Barr/diagnóstico , Infecções por Vírus Epstein-Barr/complicações , Herpesvirus Humano 4/genética , Transtornos Linfoproliferativos/diagnóstico , Transtornos Linfoproliferativos/genética , Transtornos Linfoproliferativos/terapia , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/genética , Linfo-Histiocitose Hemofagocítica/terapia , Prednisolona
2.
Clin Exp Dermatol ; 49(3): 226-234, 2024 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-37815217

RESUMO

BACKGROUND: Dedicator of cytokinesis protein 8 (DOCK8) deficiency is an autosomal recessive form of combined immunodeficiency. This rare disorder is characterized by an increased predisposition to allergy, autoimmunity and malignancies. OBJECTIVES: To analyse clinical, immunological and molecular profiles of patients with DOCK8 deficiency. METHODS: Clinic records of all patients attending the primary immunodeficiency clinic from 2018 to 2021 were reviewed. Six patients from five families were found to have DOCK8 deficiency. RESULTS: Median age at diagnosis was 7.5 years (range 2-13), with a male/female ratio of 5 : 1. Among the six patients, recurrent eczematous skin lesions were the predominant cutaneous manifestation, present in five patients (83%). Warts and molluscum contagiosum were evident in two patients (33%) and one patient (16%), respectively. Two patients had recalcitrant prurigo nodularis lesions and two had epidermodysplasia verruciformis-like lesions. Food allergies and asthma were reported by one patient each. Of the six patients, recurrent sinopulmonary infections were detected in five (83%). Epstein-Barr virus-driven non-Hodgkin lymphoma with liver metastases was the only case of malignancy, in a 4-year-old boy. IgE was elevated in all patients. Lymphopenia and eosinophilia were observed in three patients (50%) and five patients (83.3%), respectively. Genetic analysis showed DOCK8 pathogenic variants in all patients: homozygous deletion mutations in two patients, compound heterozygous deletion mutations in one, and homozygous nonsense mutations in two. A novel pathogenic homozygous missense variant in the DOCK8 gene was identified in one patient. CONCLUSIONS: DOCK8 deficiency should be considered as a possibility in any patient with early onset eczema, cutaneous viral infections and increased predisposition to allergy, autoimmunity and malignancy.


Assuntos
Eczema , Infecções por Vírus Epstein-Barr , Hipersensibilidade , Síndrome de Job , Neoplasias , Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Síndrome de Job/genética , Citocinese , Centros de Atenção Terciária , Homozigoto , Deleção de Sequência , Herpesvirus Humano 4 , Eczema/genética , Fatores de Troca do Nucleotídeo Guanina/genética
3.
Clin Exp Dermatol ; 49(4): 368-374, 2024 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-38039144

RESUMO

BACKGROUND: Hereditary angio-oedema (HAE) is a rare autosomal dominant disorder characterized clinically by recurrent episodes of nonpruritic subcutaneous and/or submucosal oedema. Laryngeal oedema is the commonest cause of mortality in patients with HAE. Prior to the availability of first-line treatment options for the management of HAE, mortality was as high as 30%. Mortality has significantly declined in countries where first-line treatment options are available and patients can access these therapies. There is a paucity of literature on the outcomes of patients with HAE in developing countries where availability of and access to first-line treatment options are still a challenge. OBJECTIVES: To report our experience on mortality in patients with HAE and to report factors associated with the death of these patients. METHODS: We carried out a record review of all patients diagnosed with HAE between January 1996 and August 2022. Families with HAE who had reported the death of at least one family member/relative from laryngeal oedema were studied in detail. RESULTS: Of the 65 families (170 patients) registered in the clinic, 16 families reported the death of at least one family member/relative from laryngeal oedema (total of 36 deaths). Of these 16 families, 14 reported that 1 or more family members had experienced at least 1 attack of laryngeal oedema. One patient died during follow-up when she was taking long-term prophylaxis with stanozolol and tranexamic acid, while the remaining 35 patients were not diagnosed with HAE at the time of their death. At the time of death of all 36 patients, at least 1 other family member had symptoms suggestive of HAE, but the diagnosis was not established for the family. CONCLUSIONS: To our knowledge, this is the largest single-centre cohort of patients with HAE in India reporting mortality data and factors associated with death in these families. The delay in diagnosis is the most important reason for mortality.


Assuntos
Angioedemas Hereditários , Edema Laríngeo , Feminino , Humanos , Edema Laríngeo/complicações , Angioedemas Hereditários/diagnóstico , Angioedemas Hereditários/tratamento farmacológico , Diagnóstico Tardio , Índia/epidemiologia , Edema , Proteína Inibidora do Complemento C1/uso terapêutico
4.
Int J Phytoremediation ; : 1-14, 2024 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-38555862

RESUMO

The present study illustrated that Salix alba can accumulate high level of Pb and Cd in different plant parts, with maximum accumulation in roots followed by stem and leaves in the order Cd > Pb > Cd + Pb. The phytoremediation evaluation factors such as bioconcentration factor (BCF) and translocation factor (TF) was higher for Cd over Pb in all plant parts, further the BCF for both Pb and Cd was maximum in root (BCF > 1) followed by stem and leaves. Higher accumulation of Cd over the Pb was observed inside the plant tissues due to Cd mimics with other elements and gets transported through respective transporters. The combined treatment of Pb and Cd affected the bioaccumulation at every treatment level suggesting the negative effect among both elements. Higher survival rate (>85%) was recorded up to 200mgPb/kg and 15mgCd/kg, while further increase in metal concentration reduced the plant efficiency to remediate contaminated soils, hence results in declined survival rate. The FTIR analysis revealed that Pb and Cd accumulation in plants induced changes in carboxy, amino, hydroxyl and phosphate groups that ultimately caused alteration in physiological and biochemical processes of plant and thus provided an insight to the interaction, binding and accumulation of heavy metals.


The present study conferred that Salix alba is a heavy metal (Pb and Cd) excluder plant on the basis of phytoremediation efficiency evaluation factors such BCF >1 (root) and TF <1. The correlation studies suggested the negative correlation among Pb and Cd accumulation and morphological traits. Physiological studies indicated that Pb and Cd accumulation negatively affect chlorophyll concentration and the antioxidant mechanism of plants gets activated, further these results are confirmed with FTIR studies, which reported the alteration in functional groups and associated compounds in plant tissues under Pb and Cd stress.

5.
Inflammopharmacology ; 32(3): 1871-1886, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38564091

RESUMO

Snow mountain garlic (SMG) is a trans-Himalayan medicinal plant used in the traditional medicine system for several ailments, including inflammatory arthritis. Research studies are insufficient to validate its folk medicinal applications. In the present study, the comparative abundance of its key bioactive phytocompounds, viz., S-allyl-L-cysteine (SAC), alliin, and S-methyl-L-cysteine (SMC) against normal garlic were assessed using the LC-MS/MS-MRM method. In addition, the study also explored the antioxidant and anti-inflammatory potency of crude extract of SMG and purified signature phytocompounds (i.e., SMC, SAC, and alliin) in comparison with normal garlic and dexamethasone in LPS-stimulated RAW264.7 macrophage cells. The LC-MS/MS-MRM study revealed significant differences among SMG and normal garlic, viz., alliin 22.8-fold higher in SMG, and SMC could be detected only in SMG. In the bioassays, SMG extract and purified signature phytocompounds significantly downregulated oxidative damage in activated macrophages, boosting endogenous antioxidants' activity. SMG extract-treated macrophages significantly suppressed NF-κB expression and related inflammatory indicators such as cytokines, COX-2, iNOS, and NO. Notably, the observed anti-inflammatory and antioxidant bioactivities of SMG extract were comparable to signature phytocompounds and dexamethasone. In addition, SAC being uniformly found in SMG and normal garlic, its comparative pharmacokinetics was studied to validate the pharmacodynamic superiority of SMG over normal garlic. Significantly higher plasma concentrations (Cmax), half-life (t1/2), and area under curve (AUC) of SAC following SMG extract administration than normal garlic validated the proposed hypothesis. Thus, the abundance of bioactive phytocompounds and their better pharmacokinetics in SMG extract might be underlying its medicinal merits over normal garlic.


Assuntos
Anti-Inflamatórios , Antioxidantes , Alho , Macrófagos , Extratos Vegetais , Alho/química , Animais , Anti-Inflamatórios/farmacologia , Anti-Inflamatórios/farmacocinética , Camundongos , Antioxidantes/farmacologia , Antioxidantes/farmacocinética , Células RAW 264.7 , Extratos Vegetais/farmacologia , Extratos Vegetais/farmacocinética , Macrófagos/efeitos dos fármacos , Macrófagos/metabolismo , Espectrometria de Massas em Tandem/métodos , Cisteína/farmacologia , Cromatografia Líquida/métodos , Compostos Fitoquímicos/farmacologia , Compostos Fitoquímicos/farmacocinética , Estresse Oxidativo/efeitos dos fármacos , Masculino
6.
Am J Community Psychol ; 73(1-2): 170-182, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36974929

RESUMO

As a registered psychotherapist and art therapist, my clinical training was primarily based on North American clinical approaches influenced by traditional Euro and western-centric clinical theories of human behavior. I completed my training feeling certain that traditional clinical mental health practices were not an appropriate fit for racialized communities and could have negative implications for their healing and well-being. As clinicians, it is our moral obligation to support and enhance the quality of life for marginalized groups. We can do this by challenging our values and knowledge that have been defined and influenced by structures (i.e., education, training, etc.) embedded in these colonial teachings. For this paper, I used a heuristic self-inquiry research method to investigate these concerns. I interviewed other racialized psychotherapists practicing in Turtle Island (currently mostly occupied by the political entities of Canada and the United States) with the aim to learn how and if decolonization can be used in therapy practice. With this research, I (1) identified a gap in care for racialized communities, (2) questioned if or how a decolonizing approach to care should be considered, (3) explored my discomfort with practitioners in the field that claim their position on decolonizing therapy, practice, and approaches, and lastly (4) propose other ways of knowing that can inform new ways of practicing therapy. The results of this research helped to problematize the language and use of decolonizing therapeutic practices while learning about other concepts that may be relevant yet distinct, such as principles of coloniality/decoloniality. Those of us, therapists or researchers, wanting to disrupt the current practice of therapy need to work together, share knowledge, and challenge each other, so that we can transform the way we practice as psychotherapists. This paper is my contribution to this conversation.


Assuntos
Heurística , Saúde Mental , Humanos , Qualidade de Vida , Escolaridade , Aprendizagem
7.
J Clin Immunol ; 43(7): 1483-1495, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37280467

RESUMO

Day-to-day clinical management of patients with inborn errors of immunity, including chronic granulomatous disease (CGD), has been affected by the coronavirus disease-2019 (COVID-19) pandemic. There is a dearth of information on impact of this pandemic on clinical care of children with CGD and psychological profile of the caretakers. Among the 101 patients with CGD followed up in our center, 5 children developed infection/complications associated with COVID-19. Four of these children had a mild clinical course, while 1 child developed features of multisystem inflammatory syndrome in children (MISC) requiring intravenous glucocorticoids. Parents and caretakers of CGD patients (n = 21) and 21 healthy adults with similar ages and genders were also evaluated on the following scales and questionnaires: COVID-19 Fear Scale (FCV 19S), Impact of Event Scale (IES-R), Depression, Anxiety, and Stress Scale (DASS 21), Preventive COVID-19 Behavior Scale (PCV 19BS), and a "COVID-19 Psychological wellbeing questionnaire." Median age of the parents/caregivers was 41.76 years (range: 28-60 years). Male:female ratio was 2:1. In the study group, 71.4% had higher IES scores compared to 14.3% in controls. The caregivers had a high prevalence of stress, anxiety, avoidance behavior, and depression compared to controls (p < 0.001). Children with CGD have had predominantly mild infection with COVID-19; however, caregivers/parents of these children were at risk of developing psychological distress. The COVID-19 pandemic has brought to light the importance of patients' and caretakers' mental health which needs periodic assessment and appropriate interventions.


Assuntos
COVID-19 , Doença Granulomatosa Crônica , Adulto , Criança , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , COVID-19/epidemiologia , Pandemias/prevenção & controle , Doença Granulomatosa Crônica/diagnóstico , Doença Granulomatosa Crônica/epidemiologia , Doença Granulomatosa Crônica/terapia , SARS-CoV-2 , Depressão/epidemiologia , Depressão/psicologia
8.
Neuropediatrics ; 54(5): 335-338, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37379859

RESUMO

The neurodevelopmental outcomes in children with tuberous sclerosis complex (TSC) with epileptic spasms remain underdiagnosed and might be responsible for significant morbidity and mortality burdens, even after spasms abate. The study was a cross-sectional study over 18 months at a tertiary care pediatric hospital, involving 30 children with TSC who had epileptic spasms. They were assessed with Diagnostic and Statistical Manual of Mental Disorders-5 criteria for autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and intellectual disability (ID), and childhood psychopathology measurement schedule (CPMS) for behavioral disorders. The median age at onset of epileptic spasms was 6.5 (1-12) months, and the age at enrolment was 5 (1-15) years. Of 30 children, 2 (6.7%) had only ADHD, 15 (50%) had only ID/GDD (global developmental delay), 4 (13.3%) had ASD and ID/GDD, 3 (10%) had ADHD and ID/GDD, and 6 (20%) had none. The median intelligence quotient/development quotient (IQ/DQ) score was 60.5 (20-105). CPMS assessment revealed significant behavioral abnormalities in almost half the children. Eight (26.7%) patients were completely seizure-free for at least 2 years, 8 (26.7%) had generalized tonic-clonic seizures, 11 (36.6%) had focal epilepsy, and 3 (10%) had evolved into Lennox-Gastaut syndrome. A high proportion of neurodevelopment disorders, including ASD, ADHD, ID/GDD, and behavioral disorders were seen in this pilot study with a small cohort of children with TSC with epileptic spasms.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Espasmos Infantis , Esclerose Tuberosa , Criança , Humanos , Pré-Escolar , Adolescente , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/diagnóstico , Esclerose Tuberosa/complicações , Esclerose Tuberosa/epidemiologia , Estudos Transversais , Projetos Piloto , Espasmos Infantis/complicações , Espasmos Infantis/epidemiologia , Espasmo , Deficiência Intelectual/complicações , Deficiência Intelectual/epidemiologia
9.
Environ Res ; 231(Pt 2): 116133, 2023 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-37209981

RESUMO

Membranes are ubiquitous tools for modern water treatment technology that critically eliminate hazardous materials such as organic, inorganic, heavy metals, and biomedical pollutants. Nowadays, nano-membranes are of particular interest for myriad applications such as water treatment, desalination, ion exchange, ion concentration control, and several kinds of biomedical applications. However, this state-of-the-art technology suffers from some drawbacks, e.g., toxicity and fouling of contaminants, which makes the synthesis of green and sustainable membranes indeed safety-threatening. Typically, sustainability, non-toxicity, performance optimization, and commercialization are concerns centered on manufacturing green synthesized membranes. Thus, critical issues related to toxicity, biosafety, and mechanistic aspects of green-synthesized nano-membranes have to be systematically and comprehensively reviewed and discussed. Herein we evaluate various aspects of green nano-membranes in terms of their synthesis, characterization, recycling, and commercialization aspects. Nanomaterials intended for nano-membrane development are classified in view of their chemistry/synthesis, advantages, and limitations. Indeed, attaining prominent adsorption capacity and selectivity in green-synthesized nano-membranes requires multi-objective optimization of a number of materials and manufacturing parameters. In addition, the efficacy and removal performance of green nano-membranes are analyzed theoretically and experimentally to provide researchers and manufacturers with a comprehensive image of green nano-membrane efficiency under real environmental conditions.


Assuntos
Metais Pesados , Nanoestruturas , Purificação da Água , Tecnologia , Purificação da Água/métodos , Substâncias Perigosas
10.
J Community Psychol ; 51(4): 1669-1694, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36226861

RESUMO

In this paper, we present a descriptive review of the foundational components of transformation-the starting places and gaps-in a move toward synthesizing current works into a Community Psychology Transformative Praxis. This review focuses on published work identified in North American Community Psychology journals (namely two United States based journals)-a review from the belly of the neoliberal and imperial beast. We reviewed and categorized seven foundational dimensions for beginning and sustaining transformative praxis and which represent how Community Psychology (CP), in the United States publishing context, is engaging in transformative efforts. In Part 1, we present three dimensions of transformative process, focused on early and iterative practices that develop and enact shared (1) values, (2) visions of a just world, and (3) critical problem frames. In part 2 we present four additional dimensions of transformative action; the considerations that inform action in a given transformative process or intervention including (4) planning for the long-term nature of transformation, (5) targeting multiple levels of analysis, (6) engaging in solidarity with those most impacted by injustice, and (7) identifying and resisting power holders and/or power structures that prevent transformation and maintain the status quo. In Part 3, we review the relationship between process and action, where processes can be understood as driving, directing, and bounding the types of actions or interventions taken or imagined in a particular transformative intervention. We close the paper with critical reflections and calls to action to further develop the transformative potential of CP praxis and name the tendency of settling for ameliorative solutions to problems needing transformative solutions.


Assuntos
Psicologia Aplicada , Humanos , Estados Unidos
11.
Indian J Crit Care Med ; 27(9): 642-646, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37719347

RESUMO

Background: Healthcare-associated infections are the leading cause of morbidity and mortality in hospitalized patients. Catheter-associated urinary tract infection (CAUTI) is a leading infection in ICU settings. This study aims to evaluate the patient and catheter-related factors contributing to the urinary tract infection as well as implementing the preventive measures ultimately curbing down the burden of healthcare-associated infections. Material and methods: This is a hospital-based observational study conducted in Department of Microbiology, from October 2020 to September 2021. A total of 150 patients admitted to Medical Intensive Care Unit (MICU) with the indwelling urinary catheter were included. Urine samples were collected with proper aseptic precautions and processed within 2 hours of collection. Identification and antimicrobial susceptibility testing of the isolated pathogens was done as per CLSI guidelines 2019. Results: In this study, the CAUTI rate was 9.4 per 1000 urinary catheter days, while the overall magnitude was 14.67%. It was predominantly reported in 51-70-years age group (34%), and females (63.63%) outnumbered males (36.36%), with Escherichia coli being the commonest pathogen. The highest incidence was reported in the 3rd week of catheterization with diabetes being a predominant risk factor (17.24%). Conclusion: This study provides baseline data on CAUTI rate, pathogens isolated, and risk factors at our institute. The overall goal is to identify, educate, and implement best-practice measures for prevention and curbing down the incidence rates of catheter-associated urinary tract infections. How to cite this article: Parihar S, Sharma R, Kinimi SV, Choudhary S. An Observational Study from Northern India to Evaluate Catheter-associated Urinary Tract Infection in Medical Intensive Care Unit at a Tertiary Care Center. Indian J Crit Care Med 2023;27(9):642-646.

12.
J Cell Biochem ; 123(8): 1327-1339, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35644013

RESUMO

Gluconeogenesis is one of the key processes through which the kidney contributes to glucose homeostasis. Urinary exosomes (uE) have been used to study renal gene regulation noninvasively in humans and rodents. Recently, we demonstrated fast-fed regulation of phosphoenolpyruvate carboxykinase (PEPCK), the rate-limiting enzyme for gluconeogenesis, in human uE. The regulation was impaired in subjects with early insulin resistance. Here, we studied primary human proximal tubule cells (hPT) and human uE to elucidate a potential link between insulin resistance and fast-fed regulation of renal PEPCK. We demonstrate that fasted hPTs had higher PEPCK and insulin receptor substrate-2 (IRS2) mRNA and protein levels, relative to fed cells. The fast-fed regulation was, however, attenuated in insulin receptor knockdown (IRKO) hPTs. The IRKO was confirmed by the blunted insulin-induced response on PEPCK, PGC1α, p-IR, and p-AKT expression in IRKO cells. Exosomes secreted by the wild-type or IRKO hPT showed similar regulation to the respective hPT. Similarly, in human uE, the relative abundance of IRS-2 mRNA (to IRS1) was higher in the fasted state relative to the fed condition. However, the fast-fed difference was absent in subjects with early insulin resistance. These subjects had higher circulating glucagon levels relative to subjects with optimal insulin sensitivity. Furthermore, in hPT cells, glucagon significantly induced PEPCK and IRS2 gene, and gluconeogenesis. IR knockdown in hPT cells further increased the gene expression levels. Together the data suggest that reduced insulin sensitivity and high glucagon in early insulin resistance may impair renal gluconeogenesis via IRS2 regulation.


Assuntos
Gluconeogênese , Resistência à Insulina , Glucagon/metabolismo , Gluconeogênese/fisiologia , Humanos , Insulina/metabolismo , Rim/metabolismo , Fígado/metabolismo , Fosfoenolpiruvato Carboxiquinase (ATP)/genética , Fosfoenolpiruvato Carboxiquinase (ATP)/metabolismo , RNA Mensageiro/metabolismo , Receptor de Insulina/genética , Receptor de Insulina/metabolismo
13.
Radiology ; 304(2): 485-487, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35877547

RESUMO

HISTORY: An 11-year-old girl presented to the pediatric gastroenterology outpatient department of our institution with gradually increasing painless abdominal distention. The distention started 2 years earlier and was not associated with any other constitutional symptoms, vomiting, diarrhea, jaundice, hematemesis, or melaena. She reported early satiety and heaviness in the lower abdomen. The abdominal swelling was predominantly in the infraumbilical region and was soft at palpation. She was the first child of nonconsanguineous parents and had an uneventful perinatal course after a normal vaginal delivery. Her developmental milestones were normal. She had an average scholastic performance at school. There was no history of visual problems, seizures, or inappropriate behaviors. She had an early menarche 2 years previously. Her menstrual cycles were regular, and there was no abnormal vaginal discharge. Her breast development was normal (Tanner stage III), while pubic and axillary hair were absent (Tanner stage I). She was short for her age (104 cm; normal range, 120-154 cm). There was no history of short stature among her siblings or parents. Laboratory investigations were performed to measure thyroid-stimulating hormone (1354.34 µIU/mL; normal range, 0.35-5.5 µIU/mL), triiodothyronine (<2.5 ng/dL [0.0385 pmol/L]; normal range, 100-200 ng/dL [1.54-3.08 pmol/L]), thyroxine (1.35 µg/dL [17.37 nmol/L]; normal range, 5-12 µg/dL [64.35-154.44 nmol/L]), ß-human chorionic gonadotropin (<1.2 mIU/mL; normal, <5 mIU/mL), luteinizing hormone (0.08 mIU/mL; normal range, 0.1-6.0 mIU/mL), and follicle-stimulating hormone (6.93 mIU/mL; normal range, 0.3-2.0 mIU/mL) levels. Complete blood count was normal. An abdominal mass was suspected, and abdominopelvic CT was performed and followed by US; these examinations revealed multiple large cysts in both ovaries (Figs 1, 2A, 2B). The uterus was pubertal in shape, and endometrial thickness was 9 mm, representing normal follicular phase measurement. Serum CA-125 and inhibin levels were normal. To evaluate short stature, radiographs of the hand (Fig 3) and pelvis (Fig 3B) were obtained as part of a limited skeletal survey, keeping in mind the possible skeletal changes associated with hypothyroidism. In view of the hypothyroidism, US of neck was also performed (Fig 4). Treatment was started based on the clinical and radiologic parameters, and the child's condition improved with medical treatment.


Assuntos
Hipotireoidismo , Criança , Feminino , Humanos , Hipotireoidismo/complicações
14.
Radiology ; 305(3): 746-750, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36409615

RESUMO

HISTORY: An 11-year-old girl presented to the pediatric gastroenterology outpatient department of our institution with gradually increasing painless abdominal distention. The distention started 2 years earlier and was not associated with any other constitutional symptoms, vomiting, diarrhea, jaundice, hematemesis, or melaena. She reported early satiety and heaviness in the lower abdomen. The abdominal swelling was predominantly in the infraumbilical region and was soft at palpation. She was the first child of nonconsanguineous parents and had an uneventful perinatal course after a normal vaginal delivery. Her developmental milestones were normal. She had an average scholastic performance at school. There was no history of visual problems, seizures, or inappropriate behaviors. She had an early menarche 2 years previously. Her menstrual cycles were regular, and there was no abnormal vaginal discharge. Her breast development was normal (Tanner stage III), while pubic and axillary hair were absent (Tanner stage I). She was short for her age (104 cm; normal range, 120-154 cm). There was no history of short stature among her siblings or parents. Laboratory investigations were performed to measure thyroid-stimulating hormone (1354.34 µIU/mL; normal range, 0.35-5.5 µIU/mL), triiodothyronine (<2.5 ng/dL [0.0385 pmol/L]; normal range, 100-200 ng/dL [1.54-3.08 pmol/L]), thyroxine (1.35 µg/dL [17.37 nmol/L]; normal range, 5-12 µg/dL [64.35-154.44 nmol/L]), ß-human chorionic gonadotropin (<1.2 mIU/mL; normal, <5 mIU/mL), luteinizing hormone (0.08 mIU/mL; normal range, 0.1-6.0 mIU/mL), and follicle-stimulating hormone (6.93 mIU/mL; normal range, 0.3-2.0 mIU/mL) levels. Complete blood count was normal. An abdominal mass was suspected, and abdominopelvic CT was performed and followed by US; these examinations revealed multiple large cysts in both ovaries. The uterus was pubertal in shape, and endometrial thickness was 9 mm, representing normal follicular phase measurement. Serum CA-125 and inhibin levels were normal. To evaluate short stature, radiographs of the hand and pelvis were obtained as part of a limited skeletal survey, keeping in mind the possible skeletal changes associated with hypothyroidism. In view of the hypothyroidism, US of the neck was also performed. Treatment was started based on the clinical and radiologic parameters, and the child's condition improved with medical treatment.


Assuntos
Hipotireoidismo , Puberdade Precoce , Humanos , Criança , Feminino , Puberdade Precoce/complicações , Puberdade Precoce/diagnóstico , Puberdade Precoce/tratamento farmacológico , Tiroxina/uso terapêutico , Hipotireoidismo/complicações , Síndrome , Ovário
15.
Intervirology ; 65(4): 181-187, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35193136

RESUMO

INTRODUCTION: The ongoing spread of pandemic coronavirus disease-19 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is of growing concern. Rapid diagnosis and management of SARS-CoV-2 are crucial for controlling the outbreak in the community. Here, we report the development of a first rapid-colorimetric assay capable of detecting SARS-CoV-2 in the human nasopharyngeal RNA sample in less than 30 min. METHOD: We utilized a nanomaterial-based optical sensing platform to detect RNA-dependent RNA polymerase gene of SARS-CoV-2, where the formation of oligo probe-target hybrid led to salt-induced aggregation and change in gold-colloid color from pink to blue visibility range. Accordingly, we found a change in colloid color from pink to blue in assay containing nasopharyngeal RNA sample from the subject with clinically diagnosed COVID-19. The colloid retained pink color when the test includes samples from COVID-19 negative subjects or human papillomavirus-infected women. RESULTS: The results were validated using nasopharyngeal RNA samples from positive COVID-19 subjects (n = 136). Using real-time polymerase chain reaction as gold standard, the assay was found to have 85.29% sensitivity and 94.12% specificity. The optimized method has detection limit as little as 0.5 ng of SARS-CoV-2 RNA. CONCLUSION: We found that the developed assay rapidly detects SARS-CoV-2 RNA in clinical samples in a cost-effective manner and would be useful in pandemic management by facilitating mass screening.


Assuntos
COVID-19 , SARS-CoV-2 , Feminino , Humanos , SARS-CoV-2/genética , COVID-19/diagnóstico , RNA Viral/genética , RNA Viral/análise , Pandemias , RNA Polimerase Dependente de RNA , Sensibilidade e Especificidade
16.
J Appl Microbiol ; 133(3): 1308-1321, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35389539

RESUMO

AIM: The study aimed to profile the volatile phytocomposition of snow mountain garlic (SMG) compared to normal garlic and investigate the anti-Candida efficacy against clinically relevant multi-drug resistant isolates of Candida species. METHODS AND RESULTS: Herein, SMG has shown significantly superior fungicidal power at 2x-MIC dose against C. albicans and C. glabrata in killing kinetic evaluation unlike the fungistatic effect of normal garlic. GC-MS headspace-based profiling of SMG showed 5 unique volatile compounds and a 5-fold higher content of saponins than normal garlic. In an in-silico analysis, cholesta-4,6-dien-3-ol,(3-beta) was uniquely identified in SMG as a potential inhibitor with high binding affinity to the active site of exo-1,3-betaglucan synthase, an established anti-candida drug target crucial for the biofilm matrix formation, thus suggesting a plausible anti-Candida mechanism. CONCLUSION: The in-vitro and in-silico studies have demonstrated the Candida-cidal and anti-biofilm activities of SMG, distinguishing it from the Candida-static efficacy of normal garlic. SIGNIFICANCE AND IMPACT OF THE STUDY: This is the first report that identifies several phytochemical signatures of SMG along with a potential anti-Candida compound, that is cholesta-4,6-dien-3-ol,(3-beta)-, which appears worthy of detailed studies in the future to explore the utility of SMG as a fungal phytotherapy agent, especially against drug-resistant Candida sp.


Assuntos
Alho , Antifúngicos/metabolismo , Candida , Candida albicans , Candida glabrata , Alho/metabolismo , Cromatografia Gasosa-Espectrometria de Massas , Testes de Sensibilidade Microbiana
17.
Indian J Med Res ; 155(3&4): 387-396, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-36124513

RESUMO

Background & objectives: Obesity is a rising pandemic in childhood. There is scarcity of evidence on the efficacy of yoga in achieving weight loss in overweight/obese children. The objective of this study was to assess the efficacy of family-based comprehensive yoga intervention in the reduction of body mass index (BMI) in overweight/obese children, in comparison to standard dietary and lifestyle counselling and control group. Methods: This was an open-label randomized controlled study. Children aged 8-15 yr who were overweight or had obesity were randomized to one of the three arms for 18 wk; standard weight management (group 1), yoga with dietary modification (group 2) and control (no intervention; group 3). Reduction in BMI and improvement in physiological, biochemical and psychological parameters from baseline to 18 wk was compared between the three arms. Late follow up was also done at 6-12 months. Results: A total of 165 children with mean±standard deviation (SD) age of 11.6±1.8 yr and mean BMI 26.3±4.2 kg/m2 were enrolled. Outcome analysis at 18 wk was performed for 109 children. Improved diet quality and reduced intake were observed in both intervention arms. The median (IQR) reduction in BMI in standard and yoga arms was similar [-1.4 (-3.1, -0.5) kg/m2 and -1.2 (-2.3, -0.6) kg/m2, respectively], while it increased by +0.3 (-0.3, 0.1) in the control arm. In the yoga arm, mean systolic BP reduced from 118 (10) to 114 (8) mmHg, (P=0.019). In the standard arm, significant improvement in psychological scores was noted. In group 3, the mean fasting glucose increased from 93±10 to 102±12 mg/dl (P<0.001). Interpretation & conclusions: The findings of the present study suggest that yoga in conjunction with dietary modification is equally effective as the standard weight management for BMI reduction in the paediatric age group.


Assuntos
Obesidade Infantil , Yoga , Adolescente , Criança , Glucose , Humanos , Sobrepeso , Obesidade Infantil/terapia , Redução de Peso
18.
Environ Monit Assess ; 195(1): 240, 2022 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-36575231

RESUMO

Air quality has deteriorated in most big cities and becoming the fifth major cause of mortality in India. Among others, vehicle gaseous emission is a major contributor. Plants have different tolerance levels, which can be identified based on Air Pollution Tolerance Index (APTI). The objectives were to study the morphological and biochemical parameters for Air Pollution Tolerance Index (APTI) of selected roadside tree species (Acacia auriculiformis, Alstonia scholaris, Chukrasia tabularis, Cassia fistula, Cassia siamea, Dalbergia sissoo, Heterophragma adenophyllum, and Putranjiva roxburghii) at control (PAU campus) and polluted sites (roadside) during summer and winter seasons. The total chlorophyll content, ascorbic acid, leaf extract pH, leaf relative water content, total soluble sugar, phenols, and carotenoids ranged from 0.59 to 4.16 mg g-1, 1.03 to 3.75 mg g-1, 3.16 to 7.04, 46.01 to 71.65%, 10.78 to 23.83 mg g-1, 0.51 to 1.35 mg -1, and 0.19 to 1.96 mg g-1, respectively. The Air Pollution Tolerance Index of the selected trees ranged between7.65 and 11.19 and followed an order of Cassia fistula > Acacia auriculiformis > Dalbergia sissoo > Alstonia scholaris > Putranjiva roxburghii > Heterophragma adenophyllum > Cassia siamea > Chukrasia tabularis. The evaluation of Anticipated Performance Index (API) categorized the trees into poor (Dalbergia sissoo and Cassia siamea), moderate (Cassia fistula), and good (Acacia auriculiformis, Alstonia scholaris, Chukrasia tabularis, Heterophragma adenophyllum, and Putranjiva roxburghii) categories.


Assuntos
Poluentes Atmosféricos , Poluição do Ar , Árvores , Poluentes Atmosféricos/análise , Monitoramento Ambiental , Poluição do Ar/análise , Emissões de Veículos , Índia , Folhas de Planta/química
19.
J Indian Assoc Pediatr Surg ; 27(2): 157-162, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35937129

RESUMO

Background: Adrenocortical tumors are rare tumors in children with a paucity of outcome data, especially in a resource-challenged setting. Materials and Methods: A retrospective study was conducted to evaluate the presentation, management, and outcomes of children with adrenocortical tumors who presented to our institute from January 1992 to December 2019. Results: During the study period, 28 children were included. Adenoma was present in nine children and the remaining 19 children had adrenocortical carcinoma. The median age of presentation was 48 months. Nearly half of the children with carcinomas presented with a mass compared to only 10% adenomas (P = 0.049). Virilization was present in 60% of the patients and in most cases was associated with Cushingoid features. Three children (15.7%) had metastasis at presentation. All children underwent surgical excision with a spill in 6 and gross residue in two patients. Recurrence was observed in five patients after a mean duration of 11.8 months. The 4-year overall survival and event-free survival were 100% in patients with adenomas compared to 75% and 44%, respectively, in carcinoma. Children who underwent complete surgical excision without any spill had a relatively favorable outcome. Conclusion: Adrenocortical tumors are uncommon tumors in children. Adenomas have a favorable outcome. There was no disease-free survival in incompletely resected or metastatic tumors. Tumor spill may also have an adverse outcome in completely resected tumors.

20.
Pediatr Diabetes ; 22(1): 93-100, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32666666

RESUMO

Medical nutrition therapy (MNT) is a vital aspect of management of type 1 diabetes mellitus (T1DM) and should be tailored to ethnic and family traditions and the socioeconomic and educational status of the patient. In this article, we discuss the unique aspects of MNT in children and adolescents with T1DM in the Indian setting, with focus on the challenges faced by patients, dieticians and physicians and how these can be overcome. The authors reviewed the available literature on MNT in T1DM from India and prepared the document based on their vast collective clinical experience in treating patients with T1DM from different regions in India. Indian diets are predominantly carbohydrate-based with high glycemic index (GI) and low protein content. Various methods are available to increase the protein and fiber content and reduce the GI of food in order to limit glycemic excursions. Insulin regimens need to be tailored to the child's school timings, meal schedule, and the availability of a responsible adult to supervise/administer insulin. All patients, irrespective of economic and education background, should be taught the broad principles of healthy eating, balanced diet and carbohydrate counting. There are various barriers to dietary compliance, including joint family system, changing lifestyles, and other factors which need to be addressed. There is a need to customize dietary management according to patient characteristics and needs and develop standardized patient educational material on principles of healthy eating in various regional languages.


Assuntos
Diabetes Mellitus Tipo 1/dietoterapia , Terapia Nutricional , Adolescente , Criança , Humanos , Índia
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