Identification of Mutation in Exon2 of the NKX2.5 Gene in Bangladeshi Pediatric Patients with Congenital Hypothyroidism

Context and rationale: Congenital hypothyroidism is a prevalent endocrine disease that may occur due to the alteration in the sequence of nucleotides of the NKX2.5 gene. Though congenital hypothyroidism is quite common among the Bangladeshi pediatric population, there are few studies on the genetic basis of this disease. Objective: This study aimed to identify any mutation in the exon2 of the NKX2.5 gene in Bangladeshi pediatric patients with congenital hypothyroidism. Methods: Forty (40) Bangladeshi pediatric patients with congenital hypothyroidism were recruited, the sociodemographic data were collected and analyzed, DNA was isolated, quantity and quality of DNA were checked, polymerase chain reaction (PCR) was done, the amplicons were visually validated by gel electrophoresis and cycle sequencing was done by Sanger sequencing. The raw chromatogram data were analyzed and compared with the NCBI database by BLAST (Basic Local Alignment Search Tool) search. Results: Sanger sequencing revealed two types of alteration in the nucleotide sequence. Nine patients showed substitutions (c.1051G>T) and eight patients showed deletions (c.1143 delT-), and both substitution and deletion were present in four patients. This substitution and deletion occurred in the Sequence Tagged Site (STS) of the exon2 of the NKX2.5 gene and these are new variants and not reported in NCBI database. Conclusion: In the present study, two types of variants were identified. So, further study to find out mutational status among Bangladeshi children might be helpful in enriching the database of mutational spectra of pediatric patients with congenital hypothyroidism.

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A Case Report on Genetic Analysis of Exon2 of Thyroid Transcription Factor 2 Gene in Congenital Hypothyroidism Patient

European Journal of Medical and Health Sciences ◽

10.24018/ejmed.2021.3.2.744 ◽

2021 ◽

Vol 3 (2) ◽

pp. 19-21

Author(s):

Marjia Khatun ◽

Laila Anjuman Banu

Keyword(s):

Transcription Factor ◽

Pediatric Patient ◽

Congenital Hypothyroidism ◽

Sanger Sequencing ◽

Demographic Data ◽

Local Alignment ◽

Cycle Sequencing ◽

Thyroid Transcription Factor ◽

Search Tool ◽

Information Database

A-3-year- old Bangladeshi pediatric patient named Tasin was presented with a diagnosed case of congenital hypothyroidism (CH). This type of hypothyroidism may occur due to the alteration in the nucleotide sequences of the Thyroid transcription factor 2 gene. Few studies are present on the genetic basis of this disease. CH is common in Bangladesh, may be due to geographical variation or other causes. Therefore, this study was conducted to identify whether there was any genetic alteration in the exon2 of Thyroid transcription factor 2 gene. With due procedure and permission from the guardian of the pediatric patient, socio-demographic data was collected. Isolation of DNA, quantitation and qualitation of DNA was ensured, polymerase chain reaction (PCR) was performed, the amplicons that was obtained from PCR; validated visually by gel electrophoresis methods; cycle sequencing was performed by Sanger sequencing. The chromatogram data that was obtained from Sanger sequencing was analyzed and compared with the National Center for Biotechnology Information database by Basic Local Alignment Search Tool search. Sanger sequencing revealed substitution (c.1051G>T) in the Sequence Tagged Site of the exon2 of Thyroid transcription factor 2 gene and this is new variants and not reported in National Center for Biotechnology Information database.

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Overactive bladder in children

Canadian Urological Association Journal ◽

10.5489/cuaj.4337 ◽

2017 ◽

Vol 11 (1-2S) ◽

pp. 74 ◽

Cited By ~ 9

Author(s):

Sophie Ramsay ◽

Stéphane Bolduc

Keyword(s):

Quality Of Life ◽

Overactive Bladder ◽

Pediatric Patients ◽

Pediatric Population ◽

Treatment Options ◽

Self Esteem ◽

Behavioural Therapy ◽

Stepwise Approach ◽

Pediatric Use

Overactive bladder (OAB) is a highly prevalent disorder in the pediatric population. This condition is especially troublesome for pediatric patients and their families when associated with incontinence, since it negatively affects self-esteem and impairs children’s development. From the patient’s perspective, urgency and urge incontinence can have a significant impact, negatively affecting their quality of life. For a therapy to have true benefit, changes must not only be statistically significant, but must also be perceived as meaningful by the patient. A stepwise approach is favoured to treat this pathology, starting with behavioural therapy, followed by medical management, and eventually more invasive procedures.Antimuscarinic agents are the mainstay of medical treatment for OAB. Oxybutynin is the most commonly used antimuscarinic in the pediatric population. However, some patients have a suboptimal response to antimuscarinics and many experience bothersome side effects, which have been documented with all antimuscarinics to a significantly higher degree than placebo. Although there have been reports about the use of tolterodine, fesoterodine, trospium, propiverine, and solifenacin in children, to date, only oxybutynin has been officially approved for pediatric use by medical authorities in North America.This review will address alternative treatment options for pediatric patients presenting with OAB, from conservative measures to more invasive therapies.

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Differential Diagnosis and Treatment of Itching in Children and Adolescents

Biomedicines ◽

10.3390/biomedicines9080919 ◽

2021 ◽

Vol 9 (8) ◽

pp. 919

Author(s):

Seok-Young Kang ◽

Ji-Young Um ◽

Bo-Young Chung ◽

Jin-Cheol Kim ◽

Chun-Wook Park ◽

...

Keyword(s):

Primary Care Physicians ◽

Pediatric Patients ◽

Pediatric Population ◽

Objective Assessment ◽

Age Groups ◽

Treatment Modalities ◽

Systemic Diseases ◽

Skin Disorders ◽

Pharmacokinetics And Pharmacodynamics

Itching is prevalent in children with skin disorders and associated with effects on their mood, quality of life, and social functioning. Surprisingly, there are no data on childhood prevalence of pruritus in the general population. The aim of this article is to explore the epidemiology, clinical manifestation, and treatment for itch (pruritus) in the pediatric population (from infancy to adolescence), and to be helpful to primary care physicians who assess and diagnose pediatric patients with itching. In this study, we searched for specific keywords using PubMed and MEDLINE (Ovid) and, then, refined the retrieved searches for each cause and treatment. As a result of reviewing the literature, atopic dermatitis was shown to be the most common cause of itching, especially during infancy and through preschool. Not only skin disorders but also systemic diseases, drugs, and postburn states can predispose an individual to itching in childhood. There are traditional and newly developed treatment modalities for itching in pediatric patients. However, because the pharmacokinetics and pharmacodynamics of childhood are different from those of adults, the medications for itching have to be applied carefully for these age groups. There are many areas to be elucidated regarding the prevalence and objective assessment of pruritus in pediatric patients. Moreover, the safety profiles of medications in the pediatric population need to be better understood. Further studies to investigate itching in childhood are warranted.

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Evaluating the Functional Outcomes and the Quality of Life for Pediatric Patients with Osteogenesis Imperfecta after Fracture Treatment with Intramedullary Rodding

Children ◽

10.3390/children8111066 ◽

2021 ◽

Vol 8 (11) ◽

pp. 1066

Author(s):

Alexandru Herdea ◽

Alexandru Ulici ◽

Dimitra Qirjako ◽

Alexandra Toma ◽

Răzvan Petru Derihaci ◽

...

Keyword(s):

Quality Of Life ◽

Osteogenesis Imperfecta ◽

Rural Areas ◽

Functional Outcomes ◽

Pediatric Patients ◽

Pediatric Population ◽

Surgical Techniques ◽

Functional Results ◽

Intramedullary Rodding

Background and Objectives: Osteogenesis imperfecta is a rare pathology involving the bones and the connective tissues, generating alterations that lead to frequent fractures during childhood. When fractures occur at birth, they are associated with an impairment of walking and the quality of life. Although surgical techniques have significantly improved in recent years, functional outcomes and the quality of life for pediatric patients that benefited from surgical management with telescopic rods have been less evaluated. This study aimed to measure functional results and determine the factors that influence the quality of life for the pediatric population diagnosed with Osteogenesis imperfecta and surgically treated using the telescopic rod approach after suffering a fracture or severe deformity. Materials and Methods: We conducted a cohort study that consisted of 15 patients diagnosed with Osteogenesis imperfecta (average age of 11.6 years). All individuals possessed at least one intramedullary telescopic rod as a result of the surgical treatment. Results: We observed that the pain, both acute and chronic, impairs the quality of life and interferes with daily living activities, for instance, self-care tasks. Conclusions: Osteogenesis imperfecta is associated with a severely damaged level of walking. All of the aspects of the pediatric patient’s daily life activity seem to be affected. Furthermore, these patients, especially those residing in rural areas, have a poor quality of life.

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Hydrocephalus-related quality of life as assessed by children and their caregivers

Journal of Neurosurgery Pediatrics ◽

10.3171/2020.4.peds19660 ◽

2020 ◽

Vol 26 (4) ◽

pp. 353-363 ◽

Cited By ~ 1

Author(s):

Kathrin Zimmerman ◽

Bobby May ◽

Katherine Barnes ◽

Anastasia Arynchyna ◽

Elizabeth N. Alford ◽

...

Keyword(s):

Posttraumatic Stress ◽

Traumatic Stress ◽

Pediatric Patients ◽

Emotional Health ◽

Social Emotional ◽

Proxy Report ◽

Cognitive Health ◽

The Mean ◽

Anxiety Depression

OBJECTIVEHydrocephalus is a chronic medical condition that has a significant impact on children and their caregivers. The objective of this study was to measure the quality of life (QOL) of children with hydrocephalus, as assessed by both caregivers and patients.METHODSPediatric patients with hydrocephalus and their caregivers were enrolled during routine neurosurgery clinic visits. The Hydrocephalus Outcomes Questionnaire (HOQ), a report of hydrocephalus-related QOL, was administered to both children with hydrocephalus (self-report) and their caregivers (proxy report about the child). Patients with hydrocephalus also completed measures of anxiety, depression, fatigue, traumatic stress, and headache. Caregivers completed a proxy report of child traumatic stress and a measure of caregiver burden. Demographic information was collected from administration of the Psychosocial Assessment Tool (version 2.0) and from the medical record. Child and caregiver HOQ scores were analyzed and correlated with clinical, demographic, and psychological variables.RESULTSThe mean overall HOQ score (parent assessment of child QOL) was 0.68. HOQ Physical Health, Social-Emotional Health, and Cognitive Health subscore averages were 0.69, 0.73, and 0.54, respectively. The mean overall child self-assessment (cHOQ) score was 0.77, with cHOQ Physical Health, Social-Emotional Health, and Cognitive Health subscore means of 0.84, 0.79, and 0.66, respectively. Thirty-nine dyads were analyzed, in which both a child with hydrocephalus and his or her caregiver completed the cHOQ and HOQ. There was a positive correlation between parent and child scores (p < 0.004 for all subscores). Child scores were consistently higher than parent scores. Variables that showed association with caregiver-assessed QOL in at least one domain included child age, etiology of hydrocephalus, and history of endoscopic third ventriculostomy. There was a significant negative relationship (rho −0.48 to −0.60) between child-reported cHOQ score and child-reported measures of posttraumatic stress, anxiety, depression, and fatigue. There was a similar significant relationship between caregiver report of child’s QOL (HOQ) and caregiver assessment of the child’s posttraumatic stress symptoms as well as their assessment of burden of care (rho = −0.59 and rho = −0.51, respectively). No relationship between parent-reported HOQ and child-reported psychosocial factors was significant. No clinical or demographic variables were associated with child self-assessed cHOQ.CONCLUSIONSPediatric patients with hydrocephalus consistently rate their own QOL higher than their caregivers do. Psychological factors such as anxiety and posttraumatic stress may be associated with lower QOL. These findings warrant further exploration.

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The Influence of Memory-Aware Computation on Distributed BLAST

Current Bioinformatics ◽

10.2174/1574893613666180601080811 ◽

2019 ◽

Vol 14 (2) ◽

pp. 157-163

Author(s):

Majid Hajibaba ◽

Mohsen Sharifi ◽

Saeid Gorgin

Keyword(s):

Search Time ◽

Genomic Research ◽

Local Alignment ◽

Negative Effects ◽

Sequencing Technologies ◽

Percent Improvement ◽

Fast Processing ◽

Search Tool ◽

Memory Awareness ◽

Generation Sequencing

Background: One of the pivotal challenges in nowadays genomic research domain is the fast processing of voluminous data such as the ones engendered by high-throughput Next-Generation Sequencing technologies. On the other hand, BLAST (Basic Local Alignment Search Tool), a longestablished and renowned tool in Bioinformatics, has shown to be incredibly slow in this regard. Objective: To improve the performance of BLAST in the processing of voluminous data, we have applied a novel memory-aware technique to BLAST for faster parallel processing of voluminous data. Method: We have used a master-worker model for the processing of voluminous data alongside a memory-aware technique in which the master partitions the whole data in equal chunks, one chunk for each worker, and consequently each worker further splits and formats its allocated data chunk according to the size of its memory. Each worker searches every split data one-by-one through a list of queries. Results: We have chosen a list of queries with different lengths to run insensitive searches in a huge database called UniProtKB/TrEMBL. Our experiments show 20 percent improvement in performance when workers used our proposed memory-aware technique compared to when they were not memory aware. Comparatively, experiments show even higher performance improvement, approximately 50 percent, when we applied our memory-aware technique to mpiBLAST. Conclusion: We have shown that memory-awareness in formatting bulky database, when running BLAST, can improve performance significantly, while preventing unexpected crashes in low-memory environments. Even though distributed computing attempts to mitigate search time by partitioning and distributing database portions, our memory-aware technique alleviates negative effects of page-faults on performance.

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Paranasal Mass in a Healthy Male Toddler

Ear Nose & Throat Journal ◽

10.1177/01455613211007944 ◽

2021 ◽

pp. 014556132110079

Author(s):

Melonie Anne Phillips ◽

Meredith Lind ◽

Gerd McGwire ◽

Diana Rodriguez ◽

Suzanna Logan

Keyword(s):

Differential Diagnosis ◽

Pediatric Patients ◽

Pediatric Population ◽

Age Group ◽

Significant Morbidity ◽

Healthy Male ◽

Neck Tumors ◽

Complete Surgical Resection ◽

Maxilla And Mandible ◽

Benign Mass

Head and neck tumors are rare in pediatric patients but should be kept in the differential when a patient presents with a new swelling or mass. One of these tumors is a myxoma, which is an insidiously growing, benign mass originating from the mesenchyme. They most commonly arise in the myocardium but can also develop in facial structures, particularly in the maxilla and mandible. When arising in facial structures, ocular, respiratory, and digestive systems can be affected based on local invasion. Complete surgical resection is curative but can lead to significant morbidity as well. Here, we present a case of a 15-month-old toddler presenting with a paranasal mass, which was ultimately diagnosed as a maxillary myxoma. This tumor is very rare in the pediatric population, especially in the toddler age-group, reminding clinicians to broaden the differential diagnosis when a patient’s course is atypical.

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Characteristics associated with clinical response to Comano thermal spring water balneotherapy in pediatric patients with atopic dermatitis

Italian Journal of Pediatrics ◽

10.1186/s13052-021-00971-3 ◽

2021 ◽

Vol 47 (1) ◽

Author(s):

Davide Geat ◽

Mattia Giovannini ◽

Ezio Gabriele Barlocco ◽

Riccardo Pertile ◽

Stefania Farina ◽

...

Keyword(s):

Atopic Dermatitis ◽

Clinical Response ◽

Disease Severity ◽

Early Onset ◽

Pediatric Patients ◽

Thermal Spring ◽

Spring Water ◽

Food Allergies ◽

Thermal Spring Water

Abstract Background Several studies have investigated the efficacy of balneotherapy in atopic dermatitis (AD), including a pediatric open randomized clinical trial conducted at the Comano thermal spring water center, which showed a significant reduction in AD severity and an improvement of the quality of life. However, so far many studies on balneotherapy in pediatric AD have included relatively small populations without identifying patients’ characteristics associated with their response. The aim of the present study was to identify any features associated with the clinical response to the Comano thermal spring water balneotherapy in a large cohort of pediatric AD patients. Methods An observational study was conducted on 867 children aged ≤16 years (females 50.5%, mean patient’s age 5.9 years, standard deviation ±3.6 years) with mild to severe AD who underwent balneotherapy at the Comano thermal spring water center (Comano, Trentino, Italy) from April to October 2014. Patients were stratified according to their disease severity, which was evaluated using five SCORing Atopic Dermatitis (SCORAD) categories before and immediately after a thermal spring water balneotherapy course. Potential characteristics associated with the patients’ clinical response to Comano thermal spring water balneotherapy were investigated. Results A statistically significant improvement in AD severity was observed after Comano thermal spring water balneotherapy (p < 0.0001). A significantly higher percentage of patients achieving improvement in AD severity was reported among children ≤4 years old (p < 0.0001) with early-onset AD (p < 0.0001), severe AD (p < 0.0001) or coexistent reported food allergies (p < 0.01). The therapy was well tolerated, and no relevant adverse effects were reported during the treatment course. Conclusions Comano thermal spring water balneotherapy is a safe complementary treatment for pediatric patients with AD, as it was able to reduce the disease severity, especially in children ≤4 years old, with early onset AD, severe AD or concomitant food allergies.

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Tolvaptan in Pediatric Autosomal Dominant Polycystic Kidney Disease: From Here to Where?

Kidney Diseases ◽

10.1159/000517186 ◽

2021 ◽

pp. 1-7

Author(s):

Fei Liu ◽

Chunyue Feng ◽

Huijun Shen ◽

Huaidong Fu ◽

Jianhua Mao

Keyword(s):

Kidney Disease ◽

Polycystic Kidney Disease ◽

Pediatric Patients ◽

Autosomal Dominant ◽

Life Assessment ◽

Therapeutic Approaches ◽

Polycystic Kidney ◽

Autosomal Dominant Polycystic Kidney ◽

Ongoing Phase

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder, accounting for approximately 5% of all ESRD cases worldwide. As a vasopressin receptor 2 antagonist, tolvaptan is the FDA-approved therapeutic agent for ADPKD, which is only made available to a limited number of adult patients; however, its efficacy in pediatric patients has not been reported widely. Summary: Tolvaptan was shown to delay ADPKD progression in the Tolvaptan Efficacy and Safety in Management of Autosomal Dominant Polycystic Kidney Disease and Its Outcomes (TEMPO) 3:4 study, Replicating Evidence of Preserved Renal Function: an Investigation of Tolvaptan Safety and Efficacy in ADPKD (REPRISE) trial, and other clinical studies. In addition to its effects on aquaretic adverse events and alanine aminotransferase elevation, the effect of tolvaptan on ADPKD is clear, sustained, and cumulative. While ADPKD is a progressive disease, the early intervention has been shown to be important and beneficial in hypotheses as well as in trials. The use of tolvaptan in pediatric ADPKD involves the following challenges: patient assessment, quality of life assessment, cost-effectiveness, safety, and tolerability. The ongoing, phase 3b, 2-part study (ClinicalTrials.gov identifier: NCT02964273) on the evaluation of tolvaptan in pediatric ADPKD (patients aged 12–17 years) may help obtain some insights. Key Messages: This review focuses on the rationality of tolvaptan use in pediatric patients with ADPKD, the associated challenges, and the suggested therapeutic approaches.

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1346. Implementation of a Multidisciplinary 48 Hour Antibiotic Timeout in a Pediatric Population

Open Forum Infectious Diseases ◽

10.1093/ofid/ofaa439.1528 ◽

2020 ◽

Vol 7 (Supplement_1) ◽

pp. S684-S684

Author(s):

Victoria Konold ◽

Palak Bhagat ◽

Jennifer Pisano ◽

Natasha N Pettit ◽

Anish Choksi ◽

...

Keyword(s):

Pediatric Patients ◽

Pediatric Population ◽

Intervention Group ◽

Post Intervention ◽

Days Of Therapy ◽

New Antibiotics ◽

Core Elements ◽

Quasi Experimental ◽

Empirical Antibiotics ◽

The Impact

Abstract Background To meet the core elements required for antimicrobial stewardship programs, our institution implemented a pharmacy-led antibiotic timeout (ATO) process in 2017 and a multidisciplinary ATO process in 2019. An antibiotic timeout is a discussion and review of the need for ongoing empirical antibiotics 2-4 days after initiation. This study sought to evaluate both the multidisciplinary ATO and the pharmacy-led ATO in a pediatric population, compare the impact of each intervention on antibiotic days of therapy (DOT) to a pre-intervention group without an ATO, and to then compare the impact of the pharmacy-led ATO versus multidisciplinary ATO on antibiotic days of therapy (DOT). Methods This was a retrospective, pre-post, quasi-experimental study of pediatric patients comparing antibiotic DOT prior to ATO implementation (pre-ATO), during the pharmacy-led ATO (pharm-ATO), and during the multidisciplinary ATO (multi-ATO). The pre-ATO group was a patient sample from February-September 2016, prior to the initiation of a formal ATO. The pharmacy-led ATO was implemented from February-September 2018. This was followed by a multidisciplinary ATO led by pediatric residents and nurses from February-September 2019. Both the pharm-ATO and the multi-ATO were implemented as an active non-interruptive alert added to the electronic health record patient list. This alert triggered when new antibiotics had been administered to the patient for 48 hours, at which time, the responsible clinician would discuss the antibiotic and document their decision via the alert workspace. Pediatric patients receiving IV or PO antibiotics administered for at least 48 hours were included. The primary outcome was DOT. Secondary outcomes included length of stay (LOS) and mortality. Results 1284 unique antibiotic orders (n= 572 patients) were reviewed in the pre-ATO group, 868 (n= 323 patients) in the pharm-ATO and 949 (n= 305 patients) in the multi-ATO groups. Average DOT was not significantly different pre vs post intervention for either methodology (Table 1). Mortality was similar between groups, but LOS was longer for both intervention groups (Table 1). Impact of an ATO on DOT, Mortality and LOS Conclusion An ATO had no impact on average antibiotic DOT in a pediatric population, regardless of the ATO methodology. Disclosures All Authors: No reported disclosures

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