Clinical Medicine Insights-Pediatrics最新文献

{"title":"Giant Congenital Ovarian Cyst Presenting as an Abdominal Mass.","authors":"Jay Lodhia","doi":"10.1177/11795565241290131","DOIUrl":"https://doi.org/10.1177/11795565241290131","url":null,"abstract":"<p><p>Adnexal masses are uncommon in children but are increasingly recognized due to advancements in diagnostic facilities. Such masses in the pediatric population often raise concerns about malignancy. Typically, these masses are small and can resolve spontaneously; however, larger ones can pose a diagnostic dilemma due to their signs and symptoms, requiring clinicians to be particularly vigilant. Simple ovarian cysts are seen in 1 in 2500 live births. They are commonly diagnosed prenatally as intra-abdominal masses by ultrasonography. While there are no established guidelines for management, larger cysts are generally managed surgically (either open or laparoscopic) with the aim of protecting the ovaries and ensuring future fertility. Herein, we present a case of an unusually large congenital ovarian cyst in a newborn that mimicked an abdominal mass, leading to respiratory compromise.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11475242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142477205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal Sepsis: Aetiology, Pathophysiology, Diagnostic Advances and Management Strategies.","authors":"Adi Raturi, Suresh Chandran","doi":"10.1177/11795565241281337","DOIUrl":"10.1177/11795565241281337","url":null,"abstract":"<p><p>Neonatal sepsis, a bloodstream infection in the first 28 days of life, is a leading cause of morbidity and mortality among infants in both developing and developed countries. Additionally, sepsis is distinguished in neonates by unique pathophysiological and presentational factors relating to its development in immature neonatal immune systems. This review focuses on the current understanding of the mechanics and implications of neonatal sepsis, providing a comprehensive overview of the epidemiology, aetiology, pathophysiology, major risk factors, signs and symptoms and recent consensus on the diagnosis and management of both early-onset and late-onset neonatal sepsis. It also includes a discussion on novel biomarkers and upcoming treatment strategies for the condition as well as the potential of COVID-19 infection to progress to sepsis in infants.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452898/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Influencing Factors on Independent Walking in Children With Lumbosacral Lipomas: A Retrospective Cohort Study Based on a 5-Year Untethering Series.","authors":"Chiaki Takeuchi, Shiro Sugiura, Remi Fujita, Noriatsu Tatematsu, Hideshi Sugiura","doi":"10.1177/11795565241281334","DOIUrl":"10.1177/11795565241281334","url":null,"abstract":"<p><strong>Background: </strong>Caregivers are deeply concerned about children achieving independent walking, and evidence-based rehabilitation support is beneficial. However, current research is confined to a single study on spina bifida aperta, leaving a gap in understanding the timing of independent walking for lumbosacral lipomas.</p><p><strong>Objectives: </strong>This study aimed to examine the factors influencing independent walking in children with lumbosacral lipomas.</p><p><strong>Design: </strong>Retrospective cohort study.</p><p><strong>Methods: </strong>This retrospective cohort study included 124 children who underwent untethering surgery for lumbosacral lipomas. The age (in months) at which the children walked independently was used as the primary endpoint, and potential influencing factors, including the type of spinal lipoma, extent of lipoma removal, magnetic resonance imaging features, congenital anomaly complications, urinary/defecation management requirements, foot/toe symptoms, and orthotic device fabrications were analyzed.</p><p><strong>Results: </strong>Multiple logistic regression analysis showed that the most significant influencing factor for delayed independent walking was the presence of systemic combined anomalies (adjusted odds ratio = 15.5, <i>P</i> <i><</i> <i>.001</i>), while non-systemic malformations, such as suburethral cleft, had limited effects. A subgroup analysis of 94 patients without systemic combined anomalies showed that the presence of a malformed conus medullaris was significantly associated with delayed independent walking (<i>P</i> <i>=</i> <i>.014</i>). The median age of independent walking in children with Morota's classification type 2 was 14 months, which is 1 month later compared to other types, although this difference was not significant (<i>P</i> <i>=</i> <i>.055</i>).</p><p><strong>Conclusion: </strong>Our findings suggest that complications arising from systemic combined anomalies and the presence of malformed conus medullaris are influencing factors in delays in independent walking in children with untethered lumbosacral lipomas.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of Voiding Dysfunction and Nocturnal Enuresis Rates in Primary School Children in Nablus, Palestine: A Cross-Sectional Study.","authors":"Suha Hamshari, Dima Salman, Dina Jaber, Raghad Dweik, Rola Abualwafa, Mahfouz Ktaifan, Sa'ed H Zyoud, Maha Akkawi, Faris Abushamma","doi":"10.1177/11795565241281339","DOIUrl":"https://doi.org/10.1177/11795565241281339","url":null,"abstract":"<p><strong>Background: </strong>Voiding dysfunction (VD) is a frequent reason for primary care referrals to urologists and pediatric urologists. VD symptoms include urine incontinence (UI), urinary tract infection (UTI), hyperactive bladder, and constipation. Early detection of Nocturnal enuresis is critical due to its high frequency and the consequences for families and children regarding psychological and behavioral aspects.</p><p><strong>Objectives: </strong>This study aims to determine the prevalence of voiding disorder in Palestine and its relationship to demographic, family, and behavioral risk factors.</p><p><strong>Design: </strong>A cross-sectional study.</p><p><strong>Methods: </strong>This study administered a 2-part validated questionnaire to the mothers of primary school-age children who had no history of urological disease between December 2022 and March 2023.</p><p><strong>Results: </strong>Out of 169 children; daytime incontinence was found in 39 (23.2%) of the sample, whereas nocturnal enuresis was found in 49 (28.4%). Age was significantly correlated with voiding dysfunction, in which 25 (55.6%) were under the age of 7 years (<i>P</i> = .025).</p><p><strong>Conclusion: </strong>According to our data, VD is a widespread health issue in primary school. Expanding our understanding of voiding dysfunction is important to eliminate the social stigma associated with voiding disorder and encourage parents and children to seek treatments and therapies. Furthermore, raising awareness will aid in early diagnosis, resulting in fewer long-term problems and earlier treatments. Raising awareness can be accomplished through educational programs focusing on primary care screening.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11437558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142356064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Multi-Center Retrospective Database Evaluation of Pediatric Subjects Diagnosed With Methemoglobinemia.","authors":"Neha Sinha, Brooke Lichak, Neal J Thomas, Conrad Krawiec","doi":"10.1177/11795565241271678","DOIUrl":"10.1177/11795565241271678","url":null,"abstract":"<p><strong>Background: </strong>Methemoglobinemia requires early identification and treatment, but limited knowledge exists regarding the current therapeutic approach taken by clinicians as well as the outcomes that occur in children.</p><p><strong>Objectives: </strong>To determine the current prevalence of this rare disease in the pediatric population, evaluate the impact of methemoglobin and functional hemoglobin levels, and assess how this disease is approached by clinicians. We hypothesize that methemoglobinemia prevalence is low and more methylene blue use would be observed in subjects with functional hemoglobin levels less than 7 g/dL.</p><p><strong>Design: </strong>This was a retrospective observational cohort study utilizing deidentified TriNetX^® electronic health record (EHR) data.</p><p><strong>Methods: </strong>Using a multicenter EHR database, we evaluated subjective characteristics, diagnostic, laboratory results, medication, and procedural codes.</p><p><strong>Results: </strong>Ninety-eight children (mean age 5.3 ± 5.3 years) from 53 healthcare organizations were included. Methemoglobinemia prevalence was 0.0015% with an overall 30-day mortality of 6.1%. Subjects with methemoglobin percentages greater than 20% had a higher frequency of methylene blue administration (70.6% versus 24.7%, <i>P</i> = .0005). Critical care service requirements and methylene blue administration were similar in the subjects with functional hemoglobin less than 7 g/dL and more than 7 g/dL groups. Overall, 13 (13.2%) subjects underwent glucose-6-phosphate dehydrogenase deficiency (G6PD) testing.</p><p><strong>Conclusion: </strong>In our study, we found methemoglobinemia prevalence in children is low, there is a low frequency of G6PD testing despite methylene blue hemolysis risk, and subjects appeared to be treated similarly despite a low functional hemoglobin. These findings highlight the continued critical nature of this disease and may highlight opportunities for education aimed at improving care in children diagnosed with methemoglobinemia, particularly related to G6PD testing.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142308734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Self-Induced Stretch Syncope: An Unusual Non-Epileptic Paroxysmal Event. A Case Report and Literature Mini-Review.","authors":"Anna Mercante, Fabio Pizza, Federica Pondrelli, Andrea Zini, Luigi Cirillo, Paolo Tinuper, Rocco Liguori, Ludovica Migliaccio, Stefano Vandi, Giuseppe Gobbi, Giuseppe Plazzi","doi":"10.1177/11795565241249596","DOIUrl":"https://doi.org/10.1177/11795565241249596","url":null,"abstract":"<p><p>Stretch syncope (SS) is a benign, uncommon, distinct condition described mainly in adolescent males. It is responsible for paroxysmal events started by stereotyped stretching actions with neck hyperextension, culminating in alteration of consciousness. Motor manifestations are often present and may be associated with a generalized slowing of the electroencephalographic activity, challenging the diagnosis. Despite a few cases reported in the literature, different mechanisms have been implied in the pathogenesis, involving both local and systemic hemodynamic phenomena. Here, we report on an 8-year-old girl with self-induced SS, providing new insights into the related neurophysiological profile and discussing the possible etiology. Our evidence of transient and dynamic vascular impairment supports the hypothesis of SS as a multifactorial disorder.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11402079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Safe Infant Sleep Practices and Associated Factors Among Mothers Attending Vaccination Service at Dessie Town Governmental Health Care Facilities, 2021.","authors":"Debrnesh Goshiye, Sisay Gedamu","doi":"10.1177/11795565241275854","DOIUrl":"10.1177/11795565241275854","url":null,"abstract":"<p><strong>Background: </strong>Babies spend a lot of their time with sleeping thus they need to have a safe sleep. Inadequate sleeping arrangements might heighten the likelihood of Sudden Unexpected mortality in Infancy (SUDI), including SIDS and lethal sleeping mishaps, which continue to be the most prevalent cause of mortality for individuals aged 1 to 1 year.</p><p><strong>Objective: </strong>The study aimed to assess safe baby sleep practices and associated factors among women receiving immunizations at government healthcare facilities in Dessie Town.</p><p><strong>Design: </strong>An institution-based cross-sectional study.</p><p><strong>Methods: </strong>We conducted interviews with a total of 392 mothers using semi-structured questionnaires at public health facilities of Dessie town, in 2021. After the data were entered into the EPI data version 3.1, SPSS 23 was utilized for the analysis. Additionally, multivariate and binary logistic regression analyses were carried out. In multivariate analysis, a <i>P</i>-value less than .05 indicate a significant association.</p><p><strong>Results: </strong>About 38.3%, 21.9%, and 14.7% had safe infant sleep practice regarding sleep position, no soft-bedding and sleep arrangement respectively. Significant association was observed between safe infant sleep position with baby age less than 3 months (AOR = 2.96, 95% CI = 1.50-5.84), baby age of 7 to 9 months (AOR = 3.84, 95% CI = 2.15-6.85), maternal level of education(AOR = 4.48, 95% CI = 1.87-10.76), relative/friend as their source of information (AOR = 1.98, 95% CI = 1.14-3.44), grandmother as their source of information (AOR = 1.89, 95% CI = 1.00-3.57).Additionally, baby age 4 to 6 months (AOR = 0.93, 95% CI = 0.19-0.94) and maternal level of education (AOR = 0.19, 95% CI = 0.04-0.92) shows a significant safe infant bed arrangement practice. Furthermore, baby age of 10 to 12 months (AOR = 0.49, 95% CI = 0.25-0.98) and maternal education level of college and above (AOR = 3.44, 95% CI = 1.18-10.03) also shows significant association with safe soft-bedding practice.</p><p><strong>Conclusion: </strong>Mothers' safe infant sleep practices were found to be low in Dessie town. Therefore, efforts should be made to enhance mothers' attentiveness and engagement. This will help them follow healthy infant sleep practices.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11372766/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Oral Health in Children with Chronic Kidney Disease, Hemodialysis, and Renal Transplantation: A Comprehensive Narrative Review of the Oral Manifestations and Dental Implications.","authors":"Ghada A Elhusseiny, Wafaa Saleh","doi":"10.1177/11795565241271689","DOIUrl":"10.1177/11795565241271689","url":null,"abstract":"<p><p>Chronic kidney disease (CKD) in children presents multifaceted challenges, impacting various aspects of health, including oral health. This narrative review provides a comprehensive synthesis of literature focusing on the oral health status of pediatric CKD patients, encompassing oral manifestations, dental considerations, and management challenges associated with hemodialysis and kidney transplantation. A comprehensive search strategy was employed, utilizing databases such as PubMed, Scopus, Web of Science, and Google Scholar, to identify relevant literature on oral manifestations in children with CKD, including those undergoing hemodialysis or renal transplantation. Search terms were carefully selected to capture studies examining enamel hypoplasia, dental caries, delayed tooth eruption, gingival diseases, periodontal diseases, radiographic alterations, craniofacial development, dry mouth, and changes in the oral mucosa. Our narrative review meticulously selected articles through a systematic process. Ultimately, 12 studies meeting the inclusion criteria were included in the review. Relevant data from each included study were independently extracted and synthesized, focusing on oral manifestations and their implications in pediatric CKD patients. The synthesized findings were organized and presented in a structured manner within the review article, considering their clinical implications and informing recommendations for dental management of children with CKD. This article highlights the importance of a coordinated effort between nephrologists, dentists, and other healthcare professionals in providing holistic care for pediatric CKD patients. A comprehensive understanding of the oral health status of these children, along with proactive dental management strategies, contributes to improved overall health outcomes and a better quality of life. This review aims to serve as a valuable resource for the oral healthcare providers involved in the care of pediatric CKD patients.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11350538/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142113209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric Uropathogens and their Antimicrobial Susceptibility Pattern: Experience from an Impoverished District of Karachi, Pakistan.","authors":"Moiz Ahmed Khan, Nosheen Shakeel","doi":"10.1177/11795565241254321","DOIUrl":"10.1177/11795565241254321","url":null,"abstract":"<p><strong>Introduction: </strong>Urinary tract infection (UTI) is the most common infection of the pediatric age group. Several factors linked to higher prevalence include poor personal hygiene, improper sanitation, lower socioeconomic status, and malnourishment. In addition to having a worse quality of life, the 1.8 million children who live in Karachi's Korangi district are routinely exposed to such factors.</p><p><strong>Objectives: </strong>The study aims to evaluate the frequency of UTI and distribution of uropathogens along with their antimicrobial susceptibility pattern in patients presenting to a pediatric tertiary care center in the Korangi district of Karachi, Pakistan.</p><p><strong>Design: </strong>The study employed an observational cross-sectional design.</p><p><strong>Methods: </strong>The study was conducted at the Microbiology laboratory of Sindh Institute of Child Health and Neonatology, Karachi, Pakistan from 1st January to 15th August 2023. Urine samples of patients 1 to 16 years of age were collected via midstream clean catch method and of patients from birth up to 1 year were collected in urine collection bags. The samples were cultured on Cystine Lactose Electrolyte Deficient (CLED) agar and antibiotic susceptibility testing was performed using the Kirby-Bauer Disc Diffusion method.</p><p><strong>Results: </strong>A total of 457 urine samples were collected, of which 90 (19.7%) were positive for significant uropathogens. With a mean age of 4.6 years, majority of the culture-positive patients were female (n = 72; 80%). Enterobacterales were the most frequently isolated (n = 88; 95.6%), of which <i>Escherichia coli</i> was the most common (73.9%; n = 68). <i>Citrobacter</i> (n = 7; 7.6%), <i>Klebsiella</i> (n = 6; 6.5%), <i>Serratia</i> (n = 4; 4.3%), <i>Proteus</i> (n = 2; 2.2%), <i>Salmonella</i> (n = 2; 2.2%), and <i>Enterobacter</i> (n = 1; 1.1%) were among the other Enterobacterales isolated. Meropenem and imipenem were the most effective in isolates from Enterobacterales (n = 88) followed by amikacin (n = 84), ciprofloxacin (n = 75), and piperacillin-tazobactam (n = 70). Ceftriaxone and cefixime exhibited moderate susceptibility (n = 69 and 52) whereas, amoxicillin-clavulanate was the least susceptible (n = 3).</p><p><strong>Conclusion: </strong>We report high frequency of UTI in our pediatric population with uropathogens and associated antimicrobial susceptibility pattern confirming to the existing trends of pediatric UTIs in Pakistan. In addition to valuable insights for treating patients under similar conditions, our study serves as a catalyst for further multi-center research in this area.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11265240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141753014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypoalkaline Phosphatemia Dental Type: A Case Report.","authors":"Weihua Liu, Xiaoyang Min, Hongli Wang, Qianqian Lu, Lulu Li, Haiping Chu","doi":"10.1177/11795565241256615","DOIUrl":"10.1177/11795565241256615","url":null,"abstract":"<p><p>Mutations in dental hypophosphatasia (HPP) have been reported less than those in other types of HPP because the symptoms are mild or the dental lesions are only partial manifestations of other types of HPP. In this case, we observe the clinical manifestation of dental hypoalkaline phosphatase by analyzing the genetic mutation and biochemical parameters in child. The clinical data of the child with odonto HPP were collected and analyzed. The blood samples of the child and his parents were sequenced and verified using Sanger through a specific probe capture and high-throughput second-generation sequencing technology. Major clinical manifestations in the patient were early loss of deciduous teeth, significantly lower serum alkaline phosphatase (ALP) levels, lower active vitamin D, and increased blood phosphorus, but no abnormality was observed in the oral X-ray. Two missense mutations-c.542C>T (p. ser181leu) and c.644 T> C (p.Ile215Thr)-were found in exon 6 of the <i>ALPL</i> gene from the father and mother, respectively. The clinical manifestations of odonto hypophosphatasia were early loss of deciduous teeth and significantly reduced serum ALP levels. Of 2 mutations-c.542C>T (p.ser181leu) and c.644 T> C (p.Ile215Thr)-in the <i>ALPL</i> gene, c.644 T> C (p.Ile215Thr) was a new mutation.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11185034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}