Publications by authors named "Deepti Gupta"

83 Publications

Clinical Features, Prognostic Factors, and Treatment Interventions for Ulceration in Patients With Infantile Hemangioma.

JAMA Dermatol 2021 Mar 31. Epub 2021 Mar 31.

Department of Dermatology, School of Medicine, University of California, San Francisco.

Importance: Ulceration is a common complication of infantile hemangioma (IH), which leads to substantial morbidity. Ulceration in IH has not been systematically studied since the advent of β-blocker therapy for IH.

Objectives: To examine treatment interventions used for ulceration in IH and identify clinical prognostic indicators of healing time.

Design, Setting, And Participants: A retrospective, multicenter cohort study was conducted on 436 consecutive patients with a clinical diagnosis of ulcerated IH and available clinical photographs. Patients receiving care at tertiary referral centers evaluated between 2012 and 2016 were included; statistical and data analysis were performed from February 7 to April 27, 2020.

Exposures: Clinical characteristics, treatment interventions, course, complications, and resource use were analyzed. Treatment interventions for ulceration in IH included local (wound care, topical), systemic (β-blocker, corticosteroids), and procedural (pulsed-dye laser).

Main Outcomes And Measures: The primary end point was time to complete or nearly complete ulceration healing. Clinical characteristics were analyzed to determine the responses to most common interventions and prognostic factors for healing of ulceration.

Results: Of the 436 patients included in the study, 327 were girls (75.0%); median age at ulceration was 13.7 weeks (interquartile range, 8.86-21.30 weeks). The median heal time was 4.79 weeks (95% CI, 3.71-5.86 weeks) with wound care alone, 5.14 weeks (95% CI, 4.57-6.00 weeks) with timolol, 6.36 weeks (95% CI, 5.57-8.00 weeks) with a systemic β-blocker, and 7.71 weeks (95% CI, 6.71-10.14 weeks) with multimodal therapy. After adjusting for IH size, a dose of propranolol less than or equal to 1 mg/kg/d was associated with shorter healing time compared with higher propranolol doses (hazard ratio, 2.04; 95% CI, 1.11 to 3.73; P = .02). Size of the IH was identified as a significant prognostic factor for healing time in multivariable analysis. Increasing size of IH portends a proportionately longer time to heal of the ulceration.

Conclusions And Relevance: Despite the use of β-blockers, this cohort study found that a subset of patients with IH ulceration continued to experience prolonged IH healing times. Larger IH size appears to be a poor prognostic factor for time to heal. For patients requiring systemic therapy, initiation of propranolol at lower doses (≤1 mg/kg/d) should be considered.
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http://dx.doi.org/10.1001/jamadermatol.2021.0469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8014192PMC
March 2021

Factors Affecting Bacterial Adhesion on Selected Textile Fibres.

Indian J Microbiol 2021 Mar 1;61(1):31-37. Epub 2020 Sep 1.

Department of Biochemical Engineering and Biotechnology, Indian Institute of Technology Delhi, Hauz Khas, New Delhi, 110016 India.

In sectors like healthcare and hospitality, it has been realized that fabrics play a pivotal role in transfer of nosocomial infections. However, there is a major gap in drawing correlation between different fibre types and their interaction with microorganisms. Such information is important to formulate guidelines for textile materials for use in these sectors. In the current study, the adherence of four important bacteria, , , , and was studied on six different fibre types namely polyester, wool, polypropylene, viscose, silk and cotton. Among these fibres, viscose showed maximum adherence while silk fibres showed the least attachment of bacterial strains. Bacterial adhesion was correlated with the surface characteristics (surface charge, hydrophobicity etc.) of bacteria, and nanoroughness of fibres. Adhesion of these bacteria was tested on five hydrocarbons of different hydrophobicities. , the weakest biofilm producer, and with the highest surface energy and lowest hydrophobicity amongst the bacteria compared in the study, had the lowest load on all fibres. Scanning electron microscopy revealed non-uniform binding of gram-negative and gram-positive bacteria. Nanoroughness of fibres favored bacterial adhesion. The study showed correlation between surface properties and adherence of bacteria on fibres, with the results being of direct significance to medical and hospitality sectors.
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http://dx.doi.org/10.1007/s12088-020-00903-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7810813PMC
March 2021

Cutaneous reactions to pediatric cancer treatment part II: Targeted therapy.

Pediatr Dermatol 2021 Jan 30;38(1):18-30. Epub 2020 Dec 30.

Seattle Children's Hospital, Seattle, WA, USA.

Cancer remains a leading cause of morbidity and mortality among children. Targeted therapies may improve survivorship; however, unique side-effect profiles have also emerged with these novel therapies. Changes in hair, skin, and nails-termed dermatologic adverse events (AEs)-are among the most common sequelae and may result in interruption or discontinuation of therapy. Though dermatologic AEs have been detailed in adults, these findings are not well described in the pediatric population. We reviewed the literature to characterize dermatologic AEs to anticancer targeted therapies available as of July 2020 and summarized the spectrum of clinical findings as well as treatment recommendations for children. Dermatologic AEs are among the most common AEs reported in pediatric patients receiving targeted therapy, but morphologic and histologic descriptions are often lacking in current publications. Pediatric dermatologists are uniquely poised to recognize specific morphology of dermatologic AEs and make recommendations for prevention and treatment that may improve quality of life and enable ongoing cancer therapy.
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http://dx.doi.org/10.1111/pde.14495DOI Listing
January 2021

Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome.

JAMA Dermatol 2021 01;157(1):98-104

Department of Dermatology, University of California, Irvine School of Medicine, Irvine.

Importance: Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome involving the skin, brain, and eyes. Consensus recommendations for management are lacking.

Objective: To consolidate the current literature with expert opinion to make recommendations that will guide treatment and referral for patients with port-wine birthmarks (PWBs).

Evidence Review: In this consensus statement, 12 nationally peer-recognized experts in dermatology with experience treating patients with SWS were assembled. Key topics and questions were formulated for each group and included risk stratification, optimum treatment strategies, and recommendations regarding light-based therapies. A systematic PubMed search was performed of English-language articles published between December 1, 2008, and December 1, 2018, as well as other pertinent studies identified by the expert panel. Clinical practice guidelines were recommended.

Findings: Treatment of PWBs is indicated to minimize the psychosocial impact and diminish nodularity and potentially tissue hypertrophy. Better outcomes may be attained if treatments are started at an earlier age. In the US, pulsed dye laser is the standard for all PWBs regardless of the lesion size, location, or color. When performed by experienced physicians, laser treatment can be safe for patients of all ages. The choice of using general anesthesia in young patients is a complex decision that must be considered on a case-by-case basis.

Conclusions And Relevance: These recommendations are intended to help guide clinical practice and decision-making for patients with SWS and those with isolated PWBs and may improve patient outcomes.
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http://dx.doi.org/10.1001/jamadermatol.2020.4226DOI Listing
January 2021

Cutaneous reactions in children treated with MEK inhibitors, BRAF inhibitors, or combination therapy: A multicenter study.

J Am Acad Dermatol 2020 Jul 17. Epub 2020 Jul 17.

Division of Pediatric Medicine Section of Dermatology, University of Toronto, Toronto, Canada.

Background: Treatment with BRAF inhibitors (BRAFI) and MEK inhibitors (MEKI) causes cutaneous reactions in children, limiting dosing or resulting in treatment cessation. The spectrum and severity of these reactions is not defined.

Objective: To determine the frequency and spectrum of cutaneous reactions in children receiving BRAFI and MEKI and their effects on continued therapy.

Methods: A multicenter, retrospective study was conducted at 11 clinical sites in the United States and Canada enrolling 99 children treated with BRAFI and/or MEKI for any indication from January 1, 2012, to January 1, 2018.

Results: All children in this study had a cutaneous reaction; most had multiple, with a mean per patient of 3.5 reactions on BRAFI, 3.7 on MEKI, and 3.4 on combination BRAFI/MEKI. Three patients discontinued treatment because of a cutaneous reaction. Treatment was altered in 27% of patients on BRAFI, 39.5% on MEKI, and 33% on combination therapy. The cutaneous reactions most likely to alter treatment were dermatitis, panniculitis, and keratosis pilaris-like reactions for BRAFI and dermatitis, acneiform eruptions, and paronychia for MEKI.

Conclusions: Cutaneous reactions are common in children receiving BRAFI and MEKI, and many result in alterations or interruptions in oncologic therapy. Implementing preventative strategies at the start of therapy may minimize cutaneous reactions.
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http://dx.doi.org/10.1016/j.jaad.2020.07.044DOI Listing
July 2020

A retrospective multicenter study of fatal pediatric melanoma.

J Am Acad Dermatol 2020 Nov 2;83(5):1274-1281. Epub 2020 Jul 2.

Dermatology Service, Department of Medicine, Memorial Sloan Kettering Skin Cancer Center, New York, New York.

Background: Pediatric melanoma is rare and diagnostically challenging.

Objective: To characterize clinical and histopathologic features of fatal pediatric melanomas.

Methods: Multicenter retrospective study of fatal melanoma cases in patients younger than 20 years diagnosed between 1994 and 2017.

Results: Of 38 cases of fatal pediatric melanoma identified, 57% presented in white patients and 19% in Hispanic patients. The average age at diagnosis was 12.7 years (range, 0.0-19.9 y), and the average age at death was 15.6 years (range, 1.2-26.2 y). Among cases with known identifiable subtypes, 50% were nodular (8/16), 31% were superficial spreading (5/16), and 19% were spitzoid melanoma (3/16). One fourth (10/38) of melanomas arose in association with congenital melanocytic nevi.

Limitations: Retrospective nature, cohort size, and potential referral bias.

Conclusions: Pediatric melanoma can be fatal in diverse clinical presentations, including a striking prevalence of Hispanic patients compared to adult disease, and with a range of clinical subtypes, although no fatal cases of spitzoid melanoma were diagnosed during childhood.
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http://dx.doi.org/10.1016/j.jaad.2020.06.1010DOI Listing
November 2020

Myo-Inositol's Role in Assisted Reproductive Technology: Evidence for Improving the Quality of Oocytes and Embryos in Patients With Polycystic Ovary Syndrome.

Cureus 2020 May 12;12(5):e8079. Epub 2020 May 12.

Psychiatry, California Institute of Behavioral Neurosciences and Psychology, Fairfield, USA.

Polycystic ovary syndrome (PCOS) is one of the most common causes of subfertility, and it is characterized by hormonal dysregulation like insulin resistance. Various measures have been taken in the past to overcome this insulin resistance to improve fertility treatment outcomes. The current paper aims to review and compare the existing studies and literature to assess the impact of myo-inositol (MI) on oocyte and embryo quality in assisted reproductive technology (ARTs). We thoroughly searched the PubMed and Google Scholar databases by using the keywords "PCOS, polycystic ovarian syndrome, inositol, oocyte quality, embryo quality, assisted conception, ART, IVF, and in vitro fertilization." Nine articles were finalized for review in this paper. Many of the reviewed studies have shown a trend toward the improvement of embryo quality in women with PCOS after MI supplementation; however, there is a lack of statistically significant evidence to support the use of MI in enhancing the quality of oocyte and/or embryo. Clear evidence regarding the role of MI in enhancing the quality of oocyte and embryo in PCOS is limited. A well-controlled, large, randomized controlled trial is required to definitively accept or refute its role.
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http://dx.doi.org/10.7759/cureus.8079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7292722PMC
May 2020

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.

Am J Med Genet A 2020 07 5;182(7):1576-1591. Epub 2020 Jun 5.

Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.

More than 50 individuals with activating variants in the receptor tyrosine kinase PDGFRB have been reported, separated based on clinical features into solitary myofibromas, infantile myofibromatosis, Penttinen syndrome with premature aging and osteopenia, Kosaki overgrowth syndrome, and fusiform aneurysms. Despite their descriptions as distinct clinical entities, review of previous reports demonstrates substantial phenotypic overlap. We present a case series of 12 patients with activating variants in PDGFRB and review of the literature. We describe five patients with PDGFRB activating variants whose clinical features overlap multiple diagnostic entities. Seven additional patients from a large family had variable expressivity and late-onset disease, including adult onset features and two individuals with sudden death. Three patients were treated with imatinib and had robust and rapid response, including the first two reported infants with multicentric myofibromas treated with imatinib monotherapy and one with a recurrent p.Val665Ala (Penttinen) variant. Along with previously reported individuals, our cohort suggests infants and young children had few abnormal features, while older individuals had multiple additional features, several of which appeared to worsen with advancing age. Our analysis supports a diagnostic entity of a spectrum disorders due to activating variants in PDGFRB. Differences in reported phenotypes can be dramatic and correlate with advancing age, genotype, and to mosaicism in some individuals.
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http://dx.doi.org/10.1002/ajmg.a.61615DOI Listing
July 2020

Comparing Safety and Efficacy of Dabigatran and Factor Xa Inhibitors for Stroke Prevention in Hemophiliacs with Non-Valvular Atrial Fibrillation.

J Atr Fibrillation 2019 Dec 31;12(4):2157. Epub 2019 Dec 31.

California Institute of Behavioral Neurosciences and Psychology, Fairfield, California, USA.

Background: Atrial fibrillation, a progressively rising global health problem, is also rising in Hemophiliacs due to an increase in life expectancy in them. While treating Hemophiliacs with AF, deciding eligibility, choosing the anticoagulant based on risk-benefit ratio are tough decisions for physicians to make. This review paper aims to explore and compare existing studies, reviews and consensus papers to assess the safety of different Novel Oral Anticoagulants (NOACS) in this population.

Methods: Thorough literature search was conducted on Pubmed using Atrial Fibrillation, Hemophilia A, Oral anticoagulants, stroke prevention, Dabigatran, factor Xa inhibitors as keywords separately and in combinations. Papers in English language only from the past 5 years were selected for review. After removing duplicate results, 80 papers were selected and after applying different exclusion criteria and according to relevance, 40 papers were finalized for review.

Results: The keywords AF, Stroke prevention, oral anticoagulants, Hemophilia a, Factor Xa inhibitors and Dabigatran gave 24899, 13619, 8964, 3503, 2850, 2799 results, respectively. Combination keywords also showed some papers and out of short-listed 80 relevant papers 35 were finalized. Reviewing and analyzing these papers revealed no clinical trials in hemophiliacs with AF in the past 5 years and 5 clinical trials comparing NOACs with Warfarin in general population. Rest were systematic reviews, consensus papers and meta-analyses on management in this group. A few compared these drugs for AF in the general population but not specifically in Hemophiliacs and others. consensus papers developed suggestions for management and showed that NOACs are superior to Warfarin but need individual evaluation in Hemophiliacs with AF.

Conclusions: Patients with Hemophilia can also have thrombo-embolism despite their bleeding tendency and NOACs are a better option in them because of less need for monitoring, no food interactions and fewer drug interactions. This comparative review emphasized the need for more work to develop proper guidelines for thrombo-prophylaxis management in this specific group.
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http://dx.doi.org/10.4022/jafib.2157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237081PMC
December 2019

Management of infantile hemangiomas during the COVID pandemic.

Pediatr Dermatol 2020 May 16;37(3):412-418. Epub 2020 May 16.

University of Minnesota, Minneapolis, Minnesota, USA.

The COVID-19 pandemic has caused significant shifts in patient care including a steep decline in ambulatory visits and a marked increase in the use of telemedicine. Infantile hemangiomas (IH) can require urgent evaluation and risk stratification to determine which infants need treatment and which can be managed with continued observation. For those requiring treatment, prompt initiation decreases morbidity and improves long-term outcomes. The Hemangioma Investigator Group has created consensus recommendations for management of IH via telemedicine. FDA/EMA-approved monitoring guidelines, clinical practice guidelines, and relevant, up-to-date publications regarding initiation and monitoring of beta-blocker therapy were used to inform the recommendations. Clinical decision-making guidelines about when telehealth is an appropriate alternative to in-office visits, including medication initiation, dosage changes, and ongoing evaluation, are included. The importance of communication with caregivers in the context of telemedicine is discussed, and online resources for both hemangioma education and propranolol therapy are provided.
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http://dx.doi.org/10.1111/pde.14196DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7262142PMC
May 2020

Limited Utility of Repeated Vital Sign Monitoring During Initiation of Oral Propranolol for Complicated Infantile Hemangioma.

J Am Acad Dermatol 2020 Apr 11. Epub 2020 Apr 11.

School of Medicine and Public Health, University of Wisconsin.

Background: Initial propranolol recommendations for infantile hemangioma published in 2013 were intended as provisional best practices to be updated as evidence-based data emerged.

Methods: A retrospective multicenter study was performed to evaluate utility of prolonged monitoring after first propranolol dose and escalation(s). Inclusion criteria included diagnosis of hemangioma requiring propranolol of ≥0.3 mg/kg/dose, age <2 years, and heart rate (HR) monitoring for ≥1 hour. Data collected included demographics, dose, vital signs and adverse events.

Results: 783 subjects met inclusion criteria; median age at initiation was 112 days. None of the 1148 episodes of prolonged monitoring warranted immediate intervention or drug discontinuation. No symptomatic bradycardia or hypotension occurred during monitoring. Mean HR change from baseline to 1 hour was -8.19 +/- 15.54 and baseline to 2 hours was -9.24 +/- 15.84 bpm. Three preterm subjects had dose adjustments due to prescriber concerns about asymptomatic vital sign changes. No significant difference existed in pre-treatment HR or in HR change between those with later adverse events during treatment and those without.

Conclusion: Prolonged monitoring for initiation and escalation of oral propranolol rarely changed management and did not predict future adverse events. Few serious adverse events occurred during therapy; none were cardiovascular.
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http://dx.doi.org/10.1016/j.jaad.2020.04.013DOI Listing
April 2020

Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred.

Mol Syndromol 2020 Feb 17;11(1):43-49. Epub 2020 Jan 17.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

We report a family with a spectrum of short stature, craniofacial dysmorphism, and digital anomalies in a father and 2 daughters, with the youngest (proband) displaying a severe phenotype. Clinically, autosomal dominant Robinow syndrome (ADRS) was diagnosed. Whole-exome sequencing identified a heterozygous pathogenic variant in the father and his daughters. The phenotype of short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies related to haploinsufficiency has some facial and digital resemblance to ADRS. Although this variant segregated in the affected members, it failed to explain the severe phenotype of the proband. A reanalysis of the girl's raw data confirmed 2 disorders: a de novo likely pathogenic variant implicated in ADRS and the familial variant. A close interplay of high-throughput sequencing and deep phenotyping unraveled the complexities of the blended phenotype in the proband.
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http://dx.doi.org/10.1159/000505506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109436PMC
February 2020

The Role of Circadian Misalignment due to Insomnia, Lack of Sleep, and Shift Work in Increasing the Risk of Cardiac Diseases: A Systematic Review.

Cureus 2020 Jan 9;12(1):e6616. Epub 2020 Jan 9.

Psychiatry, California Institute of Behavioral Neurosciences and Psychology, Fairfield, USA.

Around 121.5 million people suffer from cardiovascular diseases globally. The risk of cardiovascular diseases increases with advancing age in both genders. Circadian rhythm is responsible for a streamlined functioning of various body functions. Certain functions and hormones have their peak levels according to the biological day or night of circadian rhythm. Shift work and sleep disorders like obstructive sleep apnea can cause circadian misalignment that affects different metabolic, immunological, and cardiovascular functions, which ultimately increases the risk of cardiovascular diseases. We systematically searched the online database PubMed to find papers on randomized controlled trials (RCTs) from the past five years, evaluating the role of shift work and different sleep disorders in causing circadian misalignment and its effect on the risk of cardiovascular diseases. Fifty papers were shortlisted, and after the application of various inclusion and exclusion criteria, 18 papers were chosen; and then after a thorough analysis of the text, eight papers were selected for the review. All papers were evaluated for quality. Two papers focused on the effect of shift work on cardiovascular diseases, whereas five papers evaluated the role of sleep disorders on circadian rhythm and the risk of cardiovascular diseases. Shift work and sleep-related disorders were found to cause circadian misalignment, and it was found to be associated with an increase in the risk of cardiovascular diseases. Managing these disorders can help reduce the risk of cardiovascular diseases.
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http://dx.doi.org/10.7759/cureus.6616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7008727PMC
January 2020

Are Physician Associates Less-defined Force Multipliers? Comparative Role Definition of Physician Associates within the Hierarchy of Medical Professionals.

Cureus 2019 Dec 26;11(12):e6469. Epub 2019 Dec 26.

Psychiatry, California Institute of Behavioral Neurosciences and Psychology, Fairfield, USA.

Medical field has changed considerably with pressures added on mainly by soaring costs, a decline in the workforce strength and patient expectations. The solution that healthcare systems have come up with is the induction of physician associates (PAs) into the workforce. We aim to compare and contrast PAs with other members of the healthcare teams such as nurses, doctors and assistant physicians to demonstrate the vital role PAs play in the current healthcare environment. With the increased patient load and shrinking medical workforce, there are fears that chronic disease management in primary and secondary care will be threatened. Therefore, health policymakers thought of developing a new mid-level practitioner role (such as PAs, ANPs and APs) that will augment physicians to cater for ever-growing complex medical needs of the patients. The role of PAs is comparable to many healthcare professionals, and one can say that the success of PA programmes has paved the way for the development of different other mid-level practitioner development initiatives. All these roles are there to support primary and secondary care physicians in both inpatient and outpatient settings in helping the patients. PAs are a force multiplier within the healthcare sector and can be seen as a valid solution to staff shortages faced by the healthcare systems around the world. We recommend further studies looking into different aspects of the role of a PA that could further provide our readers with clarity with regard to PAs.
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http://dx.doi.org/10.7759/cureus.6469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984170PMC
December 2019

Correlation Between Donepezil and QTc Prolongation and Torsades de Pointes: A Very Rare Phenomenon.

Cureus 2019 Dec 23;11(12):e6451. Epub 2019 Dec 23.

Pediatrics, California Institute of Behavioral Neurosciences and Psychology, Fairfield, USA.

Dementia can be seen as a clinical syndrome featuring a decline in cognitive and psychological abilities that can cause disability. Two major kinds of drugs are available: N-methyl-D-aspartic acid receptor antagonists like memantine and acetylcholinesterase inhibitors such as galantamine, rivastigmine and donepezil. In this article, we have reviewed the available literature along with the provision of a snapshot of published cases in the literature We used the PubMed database for our search. The average age of patients was 80 years and above. Patients described in the literature belonged to both female and male gender, with female patients being predominant. Patients demonstrated associated atrioventricular (AV) block or ventricular premature contractions (VPC) or atrial fibrillation (AF) prior to developing torsades de pointes (TdP). Presenting complaints were either syncope or diarrhoea or accidental bradycardia. Mostly, the corrected QT interval (QTc) normalisation was associated with discontinuation of donepezil. We recommend further studies to determine this correlation between donepezil and incidence of QTc prolongation and TdP.
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http://dx.doi.org/10.7759/cureus.6451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6977576PMC
December 2019

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients.

Mol Genet Metab Rep 2020 Mar 11;22:100561. Epub 2020 Jan 11.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi 110060, India.

Sialidosis, an autosomal recessive disorder, is characterized by progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. It occurs as a result of biallelic mutations in the gene. Sialidosis is traditionally classified as a milder, late-onset type I and a severe early-onset type II disease. The presence of a cherry-red spot is a well-established ophthalmological clue to the disorder. We present a clinical-radiological report of seven unrelated patients with molecularly confirmed sialidosis type II. To the best of our knowledge, This is the largest reported series of patients with Sialidosis type II. A novel, previously unreported ophthalmic phenotype of bulls-eye maculopathy, is described. All seven phenotypically heterogeneous patients had the same pathogenic variant (c.679G > A; p.Gly227Arg) at a homozygous level in the gene. We propose that this is a common mutation in north Indians for this rare disorder. We also observed an overlap of symptoms and a continuum of phenotypes in type I and II Sialidosis.
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http://dx.doi.org/10.1016/j.ymgmr.2019.100561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957780PMC
March 2020

Evaluating the Safety of Oral Propranolol Therapy in Patients With PHACE Syndrome.

JAMA Dermatol 2020 02;156(2):186-190

Department of Dermatology, Medical College of Wisconsin, Milwaukee.

Importance: Oral propranolol is widely considered to be first-line therapy for complicated infantile hemangioma, but its use in patients with PHACE (posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects, eye anomalies) syndrome has been debated owing to concerns that the cardiovascular effects of the drug may increase the risk for arterial ischemic stroke.

Objective: To assess the incidence of adverse events among patients with PHACE syndrome receiving oral propranolol for infantile hemangioma.

Design, Setting, And Participants: This multicenter retrospective cohort study assessed the incidence of adverse events among 76 patients with PHACE syndrome receiving oral propranolol for infantile hemangioma at 11 tertiary care, academic pediatric dermatology practices. Medical records from January 1, 2010, through April 25, 2017, were reviewed.

Exposures: Patients received oral propranolol, 0.3 mg/kg/dose or more.

Main Outcomes And Measures: The main outcome was the rate and severity of adverse events occurring throughout the course of treatment with oral propranolol, as documented in the medical records. Adverse events were graded from 1 to 5 using a scale derived from the Common Terminology Criteria for Adverse Events and were considered to be serious if they were grade 3 or higher.

Results: A total of 76 patients (59 girls and 17 boys; median age at propranolol initiation, 56 days [range, 0-396 days]) met the inclusion criteria. There were no reports of serious adverse events (ie, stroke, transient ischemic attack, or cardiovascular events) during treatment with oral propranolol. A total of 46 nonserious adverse events were reported among 29 patients (38.2%); the most commonly reported nonserious adverse events were sleep disturbances and minor gastrointestinal tract and respiratory tract symptoms. In a comparison with 726 infants who received oral propranolol for hemangioma but did not meet criteria for PHACE syndrome, there was no significant difference in the rate of serious adverse events experienced during treatment (0 of 76 patients with PHACE syndrome and 3 of 726 patients without PHACE syndrome [0.4%]).

Conclusions And Relevance: This study found that oral propranolol was used to treat infantile hemangioma in 76 patients with PHACE syndrome and that no serious adverse events were experienced. These data provide support for the safety of oral propranolol in this patient population.
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http://dx.doi.org/10.1001/jamadermatol.2019.3839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6990697PMC
February 2020

Age-Specific Incidence of Melanoma in the United States.

JAMA Dermatol 2020 01;156(1):57-64

Melanoma and Skin Oncology, Seattle Cancer Care Alliance, Seattle, Washington.

Importance: Melanoma is epidemiologically linked to UV exposure, particularly childhood sunburn. Public health campaigns are increasing sun-protective behavior in the United States, but the effect on melanoma incidence is unknown.

Objective: To examine the incidence of melanoma in the United States and whether any age-specific differences are present.

Design, Setting, And Participants: Observational, population-based registry data were extracted on July 3, 2018, from the combined National Program of Cancer Registries-Surveillance Epidemiology and End Results United States Cancer Statistics database for 2001-2015. Deidentified data for 988 103 cases of invasive melanoma, with International Classification of Diseases for Oncology histologic categorization codes 8720 to 8790, were used for analysis. Data analysis was performed from July 1, 2018, to March 1, 2019.

Main Outcomes And Measures: The annual rates of melanoma in pediatric, adolescent, young adult, and adult age groups were determined. Analyses were stratified by sex, and incidence rates were age-adjusted to the 2000 US standard population. Annual percentage change (APC) in incidence rate was calculated over the most recent decade for which data were available (2006-2015) using the weighted least squares method.

Results: In 2015, 83 362 cases of invasive melanoma were reported in the United States, including 67 in children younger than 10 years, 251 in adolescents (10-19 years), and 1973 in young adults (20-29 years). Between 2006 and 2015, the overall incidence rate increased from 200.1 to 229.1 cases per million person-years. In adults aged 40 years or older, melanoma rates increased by an APC of 1.8% in both men (95% CI, 1.4%-2.1%) and women (95% CI, 1.4%-2.2%). In contrast, clinically and statistically significant decreases were seen in melanoma incidence for adolescents and young adults. Specifically, incidence rates decreased by an APC of -4.4% for male adolescents (95% CI, -1.7% to -7.0%), -5.4% for female adolescents (95% CI, -3.3% to -7.4%), -3.7% for male young adults (95% CI, -2.5% to -4.8%), and -3.6% for female young adults (95% CI, -2.8% to -4.5%). Data on skin pigmentation and sun protection history were unavailable; similar trends were observed with data limited to non-Hispanic whites. Young adult women appeared to have twice the risk of melanoma as young adult men.

Conclusions And Relevance: The incidence of invasive melanoma in the United States appeared to decrease in adolescents and young adults from 2006 to 2015, and this finding contrasted with increases in older populations. These incidence trends suggest that public health efforts may be favorably influencing melanoma incidence in the United States.
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http://dx.doi.org/10.1001/jamadermatol.2019.3353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6865303PMC
January 2020

A robust method for nucleic acid extraction from fabrics to study bacterial diversity.

J Biosci 2019 Oct;44(5)

Department of Biochemical Engineering and Biotechnology, Indian Institute of Technology Delhi, New Delhi 110 016, India.

The importance of studying microbial load on fabrics has been recently realized with reports on fabrics being a source of spread of infection in medical and hospitality sectors. However, methodological limitations have restricted the analysis of microbial diversity on fabrics. Hence, the study aimed to develop a robust method for extraction of DNA from different types of fabrics. Bacterial community profiles could be successfully generated with DNA extracted from real life samples, together with identification of different bacterial genera on fabrics. The study opens up venues to study effect of environmental factors on microbial load on fabrics. Also, such a technique will aid correlation between microbial load and types of fabric so as to come up with recommendation for fabrics bearing minimal microbial load for medical and hospitality sectors.
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October 2019

PDBe: improved findability of macromolecular structure data in the PDB.

Nucleic Acids Res 2020 01;48(D1):D335-D343

Protein Data Bank in Europe, European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridge CB10 1SD, UK.

The Protein Data Bank in Europe (PDBe), a founding member of the Worldwide Protein Data Bank (wwPDB), actively participates in the deposition, curation, validation, archiving and dissemination of macromolecular structure data. PDBe supports diverse research communities in their use of macromolecular structures by enriching the PDB data and by providing advanced tools and services for effective data access, visualization and analysis. This paper details the enrichment of data at PDBe, including mapping of RNA structures to Rfam, and identification of molecules that act as cofactors. PDBe has developed an advanced search facility with ∼100 data categories and sequence searches. New features have been included in the LiteMol viewer at PDBe, with updated visualization of carbohydrates and nucleic acids. Small molecules are now mapped more extensively to external databases and their visual representation has been enhanced. These advances help users to more easily find and interpret macromolecular structure data in order to solve scientific problems.
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http://dx.doi.org/10.1093/nar/gkz990DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145656PMC
January 2020

Takayasu arteritis: Anaesthetic implications in caesarean section.

J Clin Anesth 2019 12 1;58:18-19. Epub 2019 May 1.

Cardiac Anaesthesia, Max Super Speciality Hospital, Delhi, India.

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http://dx.doi.org/10.1016/j.jclinane.2019.04.025DOI Listing
December 2019

Is Brain-Derived Neurotrophic Factor: A Common Link Between Neurodegenerative Disorders and Cancer?

Curr Alzheimer Res 2019 ;16(4):344-352

Neuroscience Research Lab, Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, Chandigarh, India.

Background: Cancer is a common disease caused by the excessive proliferation of cells, and neurodegenerative diseases are the disorders caused due to the degeneration of neurons. Both can be considered as diseases caused by the dysregulation of cell cycle events. A recent data suggests that there is a strong inverse association between cancer and neurodegenerative disorders. There is indirect evidence to postulate Brain-derived Neurotrophic Factor (BDNF) as a potential molecular link in this association.

Discussion: The BDNF levels are found to be downregulated in many neurodegenerative disorders and are found to be upregulated in various kinds of cancers. The lower level of BDNF in Alzheimer's and Parkinson's disease has been found to be related to cognitive and other neuropsychological impairments, whereas, its higher levels are associated with the tumour growth and metastasis and poor survival rate in the cancer patients.

Conclusion: In this review, we propose that variance in BDNF levels is critical in determining the course of cellular pathophysiology and the development of cancer or neurodegenerative disorder. We further propose that an alternative therapeutic strategy that can modulate BDNF expression, can rescue or prevent above said pathophysiological course. Larger studies that examine this link through animal studies are imperative to understand the putative biochemical and molecular link to wellness and disease.
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http://dx.doi.org/10.2174/1567205016666190408123947DOI Listing
August 2020

Characterization of Pearl Millet (Pennisetum glaucum) waste.

Carbohydr Polym 2019 May 12;212:160-168. Epub 2019 Feb 12.

Department of Textile Technology, Indian Institute of Technology, New Delhi, 110016, India. Electronic address:

Environmental considerations in recent times have led to increasing interest in naturally occurring lignocellulosic materials as they are abundant and biodegradable. Pearl Millet (PM) stalks are currently discarded in North India and add to agrowaste generation. In this study, raw stalk of PM was characterized for physicochemical properties such as composition, moisture content, water absorbency and thermal behaviour. Morphology and crystallinity were studied using scanning electron microscope and X-ray diffraction respectively. Pure cellulose, extracted from the stalk using an optimised process, was characterised similarly. XRD patterns indicate the presence of cellulose type I structure with crystallinity index of 32% for raw stalk and 55% for the purified material. Water absorbency was 10 g/g for raw and 13 g/g for extracted cellulose. Material was thermally stable up to 200 °C. These findings indicate that PM stalks may be used as an indigenous source of cellulose for the absorbent layer in hygiene products.
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http://dx.doi.org/10.1016/j.carbpol.2019.02.034DOI Listing
May 2019

Management of cavernous abdominal wall defects post radical cystectomy in adult exstrophy complex.

BMJ Case Rep 2019 Jan 14;12(1). Epub 2019 Jan 14.

Plastic Reconstructive and Burns Surgery, All India Institute of Medical Sciences, New Delhi, India.

The exstrophy-epispadias complex represents a spectrum of genitourinary malformations ranging from simple glanular epispadias to an overwhelming multisystem defect, cloacal exstrophy. Neonatal total reconstruction of bladder exstrophy-epispadias complex is the treatment of choice. An adult patient presenting with untreated exstrophy is very rare. Malignant transformation, commonly adenocarcinoma, in such cases is a known complication due to mucosal metaplasia of urothelium. Management in such cases necessitates a radical surgical procedure that often results in a massive defect in the anterior abdominal wall. Providing a cover for such defects is a challenging task for the reconstructive surgeon. Local skin flaps and wide mobilisation of the rectus muscle are the usually employed techniques for closure of such defects. However, these may be inadequate in extremely large defects such as those encountered in our patients. We, hereby, describe our technique of closure of the abdominal wall defect using a pedicled anterolateral thigh flap.
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http://dx.doi.org/10.1136/bcr-2018-226076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340601PMC
January 2019

Is the undergraduate microbiology curriculum preparing students for careers in their field?: an assessment of biology majors' conceptions of growth and control of microorganisms.

Int J STEM Educ 2018 19;5(1):42. Epub 2018 Oct 19.

1Homi Bhabha Centre for Science Education (Tata Institute of Fundamental Research), V.N. Purav Marg, Mankhurd, Mumbai, 400088 India.

Background: We present an analysis of students' responses to application-based questions on the topic of growth and control of microorganisms, from a questionnaire administered to 348 second and third year students of an Indian university who were enrolled in its undergraduate programs in Biotechnology or Microbiology. We examined aspects of the laboratory practice as reported by teachers and of the university assessment patterns that may explain our findings. Reports by teachers also included their views on the impact of the laboratory curriculum on building student capabilities. Studies such as this play an important role in informing the ongoing discourse in the country about much-needed reforms in undergraduate education.

Results: Our analysis revealed several lacunae in students' understanding. Students' performance on the questionnaire was also found to be poorly correlated with their academic achievement in the university examinations. Teachers' reports revealed that there was a minimal student involvement in planning and designing of the experiments in their laboratory course; rather, cookbook protocols were commonly used by the students. There was a striking disparity between students' stated career aspirations and their preparedness for them.

Conclusions: Our analysis points to underlying issues in the teaching-learning and assessment process; we discuss these issues and possible alternatives to the current practices. This study, to the best of our knowledge, is the first in the country that has explored students' conceptions for an elementary topic in biology education at the tertiary level. We believe that the results of the study will be useful in shaping the ongoing educational reforms in higher education and will also be useful in developing a concept inventory on this topic.
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http://dx.doi.org/10.1186/s40594-018-0138-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310449PMC
October 2018

Reply - Management of vascular anomalies: Review of institutional management algorithm.

Indian J Plast Surg 2018 May-Aug;51(2):255-257

Department of Plastic, Reconstructive and Burn Surgery, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.4103/ijps.IJPS_73_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219356PMC
December 2018

The role of plastic and reconstructive surgeon in trauma care: Perspectives from a Level 1 trauma centre in India.

Indian J Plast Surg 2018 May-Aug;51(2):170-176

Department of Plastic Reconstructive and Burns Surgery, All India Institute of Medical Sciences, New Delhi, India.

Background: As the morbidity and mortality due to trauma are ever increasing, there is proportionally growing need of trauma care facilities across the country. In the context of expanding designated trauma care facilities, the role of plastic and reconstructive surgeon needs to be analysed and defined at least at a Level 1 trauma centre.

Materials And Methods: We included the patients who were operated under the department of plastic, reconstructive & burns surgery at a Level 1 urban trauma centre between January 2016 and December 2017. We analysed the demographic data and categorised operative data according to anatomical areas and interacting specialties.

Results: A total of 1539 procedures were performed under the division of plastic reconstructive and burn surgery. Amongst them, 81% were male, and 19% were female. Mean age was 27.3 years (range: 3-90 years). The anatomical locations treated were upper limb (49%), lower limb (35%), head and neck (8%) and trunk (8%). Interdepartmental cases were 600 and majority of them were in collaboration with orthopaedics ( = 298), general surgery ( = 163), neurosurgery (79) and maxillofacial surgery (60).

Conclusion: There is a significant role of plastic surgeon at a Level 1 trauma centre in India. The plastic surgeon's interventions are limb saving and sometimes lifesaving, many at times morbidity of post-traumatic sequelae are either prevented or treated. Along with other core specialties involved in the management of trauma, plastic surgeons play an integral role in a Level 1 trauma centre. The policymakers should take note to augment the number of plastic surgeons at a Level 1 apex trauma centre on par with other specialties, as the workload is heavy and is steadily on an increasing trend.
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http://dx.doi.org/10.4103/ijps.IJPS_212_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219353PMC
December 2018

An association study of dopaminergic (DRD2) and serotoninergic (5-HT2) gene polymorphism and schizophrenia in a North Indian population.

Asian J Psychiatr 2019 Jan 26;39:178-184. Epub 2018 Oct 26.

Department of Psychiatry, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India. Electronic address:

The aim of this study was to investigate whether single nucleotide polymorphisms (SNPs) in DRD2 and 5-HT2 receptor genes are associated with schizophrenia in North Indian population. Four hundred forty-three patients who met ICD10-DCR criteria for schizophrenia were enrolled from six participating centers along with 443 genetically related healthy subjects and 150 genetically unrelated healthy participants. A total of 7 gene polymorphisms from DRD2 (rs1800497, rs1079597, rs1800498, rs1801028) and 5-HT2 A (rs6313, rs6311, rs6305) were genotyped for their association with schizophrenia. No significant difference was found in frequency of various genotypes and alleles of the studied markers for DRD2 and 5-HT2 A genes between the cases and their genetic controls. However, significant differences were noted for rs1079597 genotype (Taq1B; p = 0.039) and its allele frequencies (p = 0.029) in persons with schizophrenia and the unrelated healthy controls. The DRD2 (Taq1 A-B-D) and 5-HT2 A (rs6311-rs6313-rs6305) haplotype frequencies differed significantly for A2B1D2 [p = 0.038; OR = 0.685 (95%CI = 0.479-0.981)] and ACC [p = 0.001; OR = 0.621 (95%CI = 0.461-0.838)] for the cases vs genetically related healthy controls. Similarly, significant difference was observed for the frequencies of GCC [p = 0.006; OR = 0.692 (95%CI = 0.532-0.900)] and ACC [p < 0.001; OR = 3.622 (95%CI = 1.73-7.585)] in the cases and unrelated healthy controls. Unlike previous research from India as well as abroad, the predominance of B1 allele of rs1079597 in patients with schizophrenia and absence of Cys311 in all study participants is a salient difference. Concluding, the B2 allele of rs1079597 may increase the risk of schizophrenia while the A2B1D2 haplotype may be protective in North Indian population.
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http://dx.doi.org/10.1016/j.ajp.2018.10.022DOI Listing
January 2019

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Orphanet J Rare Dis 2018 10 1;13(1):174. Epub 2018 Oct 1.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Background: Urea cycle disorders (UCDs) are inherited metabolic disorders that present with hyperammonemia, and cause significant mortality and morbidity in infants and children. These disorders are not well reported in the Indian population, due to lack of a thorough study of the clinical and molecular profile.

Results: We present data from two major metabolic centres in India, including 123 cases of various UCDs. The majority of them (72/123, 58%) presented in the neonatal period (before 30 days of age) with 88% on or before day 7 of life (classical presentation), and had a high mortality (64/72, 88%). Citrullinemia type 1 was the most common UCD, observed in 61/123 patients. Ornithine transcarbamylase (OTC) deficiency was the next most common, seen in 24 cases. Argininosuccinic aciduria was diagnosed in 20 cases. Deficiencies of arginase, N-acetylglutamate synthase, carbamoyl phosphate synthetase, citrin, and lysinuric protein intolerance were also observed. Molecular genetic analysis revealed two common ASS1 mutations: c.470G > A (p.Arg157His) and c.1168G > A (p.Gly390Arg) (36 of 55 tested patients). In addition, few recurrent point mutations in ASL gene, and a deletion of the whole OTC gene were also noted. A total of 24 novel mutations were observed in the various genes studied. We observed a poor clinical outcome with an overall all time mortality of 63% (70/110 cases with a known follow-up), and disability in 70% (28/40) among the survivors. Prenatal diagnosis was performed in 30 pregnancies in 25 families, including one pre-implantation genetic diagnosis.

Conclusions: We report the occurrence of UCDs in India and the spectrum that may be different from the rest of the world. Citrullinemia type 1 was the most common UCD observed in the cohort. Increasing awareness amongst clinicians will improve outcomes through early diagnosis and timely treatment. Genetic diagnosis in the proband will enable prenatal/pre-implantation diagnosis in subsequent pregnancies.
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http://dx.doi.org/10.1186/s13023-018-0908-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167905PMC
October 2018

Case series of psoriasis associated with tumor necrosis factor-α inhibitors in children with chronic recurrent multifocal osteomyelitis.

JAAD Case Rep 2018 Sep 14;4(8):767-771. Epub 2018 Sep 14.

Seattle Children's Hospital, Department of Pediatrics, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1016/j.jdcr.2018.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6141644PMC
September 2018