Hong Kong Journal of Paediatrics Research最新文献

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Charcott-Marie-Tooth Disease Type 4c Caused from a Pathogenic Homozygous c.1897delG (p.Ala633Profs * 12) Variation in The SH3TC2 Gene 由致病性纯合c.1897delG (p.Ala633Profs * 12)突变引起的charcottal - marie - tooth病4c型
Hong Kong Journal of Paediatrics Research Pub Date : 2021-12-30 DOI: 10.37515/pediatric.5887.4301
Fatih Kurt, M. Doğan, R. Eroz
{"title":"Charcott-Marie-Tooth Disease Type 4c Caused from a Pathogenic Homozygous c.1897delG (p.Ala633Profs * 12) Variation in The SH3TC2 Gene","authors":"Fatih Kurt, M. Doğan, R. Eroz","doi":"10.37515/pediatric.5887.4301","DOIUrl":"https://doi.org/10.37515/pediatric.5887.4301","url":null,"abstract":"Charcot-Marie-Tooth (CMT) is a group of diseases with peripheral nerve involvement known as hereditary sensory and motor neuropathy (1). It is the most common inherited neuromuscular disorder. CMT usually begins to show symptoms in the first 10 years and 20s. Clinical symptoms are bilateral, symmetrical sensory and motor polyneuropathy. Its diagnosis is based on clinical findings, EMG and molecular genetic tests. Its treatment is symptomatic. In this article, a CMT Type 4c patient with scoliosis, kyphosis, bilateral sensory and motor polyneuropathy and having SH3TC2 mutation, which is very rare in genetic analysis, is presented.","PeriodicalId":448269,"journal":{"name":"Hong Kong Journal of Paediatrics Research","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131195734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cytokine Imbalance in a 15-year-old Boy with Pandemic Influenza an Infection Requiring Extracorporeal Membrane Oxygenation 细胞因子失衡的15岁男孩流感感染需要体外膜氧合
Hong Kong Journal of Paediatrics Research Pub Date : 2021-12-30 DOI: 10.37515/pediatric.5887.4302
Sang Hyun Park, Chang-Min Kang, D. Kim, Haneul Kim, Y. Yoo
{"title":"Cytokine Imbalance in a 15-year-old Boy with Pandemic Influenza an Infection Requiring Extracorporeal Membrane Oxygenation","authors":"Sang Hyun Park, Chang-Min Kang, D. Kim, Haneul Kim, Y. Yoo","doi":"10.37515/pediatric.5887.4302","DOIUrl":"https://doi.org/10.37515/pediatric.5887.4302","url":null,"abstract":"Acute severe asthma is an acute episode of intractable asthma that is poorly responsive to standard management. Acute respiratory failure or acute respiratory distress syndrome (ARDS) requiring ventilator support may be life-threatening. Although respiratory viral infections are responsible for most asthma exacerbations, the seasonal influenza virus has not been considered a risk factor. However, the 2009 H1N1 influenza A pandemic strain (pH1N1), which has resulted in numerous hospitalizations and mortalities worldwide, has been reported to be closely related to asthma exacerbation. Thus, with over 300 million people suffering from asthma worldwide, further studies are needed to protect this vulnerable population that is highly susceptible to pH1N1 infection. Dysregulation of Th1/Th2 cytokines may be involved in asthma exacerbation. We report the case of a paediatric patient with acute respiratory failure due to asthma exacerbation triggered by pH1N1 infection. The patient exhibited Th2 polarization in the acute phase of exacerbation and recovered from ARDS through timely ventilator support and subsequent extracorporeal membrane oxygenation. Further investigation regarding the mechanism of immune response in asthma exacerbations associated with pH1N1 infection may elucidate the optimal treatment for asthma.","PeriodicalId":448269,"journal":{"name":"Hong Kong Journal of Paediatrics Research","volume":"272 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134315706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of safety and efficacy of Deferoxamine compared with deferasirox in transfusion dependent beta thalassemia patients: a single center retrospective study 去铁胺与去铁素在输血依赖性地中海贫血患者中的安全性和有效性评价:一项单中心回顾性研究
Hong Kong Journal of Paediatrics Research Pub Date : 2021-12-30 DOI: 10.37515/pediatric.5887.4303
N. Batool, S. Yasmeen, Rabia Anwar, Z. Saleem
{"title":"Evaluation of safety and efficacy of Deferoxamine compared with deferasirox in transfusion dependent beta thalassemia patients: a single center retrospective study","authors":"N. Batool, S. Yasmeen, Rabia Anwar, Z. Saleem","doi":"10.37515/pediatric.5887.4303","DOIUrl":"https://doi.org/10.37515/pediatric.5887.4303","url":null,"abstract":"Purpose: The primary cause of mortality and morbidity in thalassemia major is iron overload. The objective of this study was to compare the safety and efficacy of deferoxamine and deferasirox in transfusion dependent beta thalassemia patients. Methods: A retrospective observational study was conducted among 178 patients. Patients were divided into two groups, deferoxamine group (90 patients) and deferasirox group (88 patients). Standardized data collection form was used to collect data. Clinical and demographic characteristics of patients were recorded by checking medical records. The collected data was analyzed using SPSS software. Findings: It was revealed that both drugs, deferoxamine and deferasirox were effective and safe in transfusion dependent beta thalassemic patients. Both are efficacious in reducing serum ferritin level. Their laboratory parameters were within clinically accepted range. Conclusion: Deferoxamine and deferasirox treatment have equal efficacy and safety for transfusion dependent beta thalassemia population. Therefore, oral deferasirox is recommended for more compliance and convenience.","PeriodicalId":448269,"journal":{"name":"Hong Kong Journal of Paediatrics Research","volume":"20 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116903155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Novel Variant of Tuberosclerosis: c.2458A>T p.(Lys820*) in the TSC1 Gene 19th Exon TSC1基因第19外显子c.2458A>T . p.(Lys820*
Hong Kong Journal of Paediatrics Research Pub Date : 2021-12-30 DOI: 10.37515/pediatric.5887.4304
Fatih Kurt, M. Dogan, R. Eroz
{"title":"A Novel Variant of Tuberosclerosis: c.2458A>T p.(Lys820*) in the TSC1 Gene 19th Exon","authors":"Fatih Kurt, M. Dogan, R. Eroz","doi":"10.37515/pediatric.5887.4304","DOIUrl":"https://doi.org/10.37515/pediatric.5887.4304","url":null,"abstract":"Rhabdomyomas are the most common congenital heart tumors. Rhabdomyomas are hamartomas of myocytes and benign heart tumors. In the postnatal period, it may be asymptomatic, or there may be findings such as murmur, arrhythmia, heart failure, and even hydrops. Echocardiography (ECHO) is a very valuable method in its diagnosis. Rhabdomyomas can regress spontaneously. Rhabdomyoma of the heart is seen in 43-60% of tuberous sclerosis cases. Tuberous sclerosis is an autosomal dominant inherited neurocutaneous disease that causes the development of benign tumors called hamartoma in many systems such as brain, retina, kidneys, heart, skin and lungs. In this article, we wanted to contribute to the literature by presenting a new pathogenic c.2458A> T (p.Lys820Ter) variant that developed de novo in the TSC1 gene by genetic analysis of a patient with multiple cardiac rhabdomyomas.","PeriodicalId":448269,"journal":{"name":"Hong Kong Journal of Paediatrics Research","volume":"73 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125136549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Predictors and Reasons of Permanent Tooth Extraction Among High School Children: A National Cross Sectional study 高中生拔恒牙的预测因素和原因:一项全国性的横断面研究
Hong Kong Journal of Paediatrics Research Pub Date : 2021-08-15 DOI: 10.37515/pediatric.5887.4201
A. Almarghlani, A. Alshali, M. Assaggaf, A. AlGhamdi, Mohammed Alzahrani
{"title":"Predictors and Reasons of Permanent Tooth Extraction Among High School Children: A National Cross Sectional study","authors":"A. Almarghlani, A. Alshali, M. Assaggaf, A. AlGhamdi, Mohammed Alzahrani","doi":"10.37515/pediatric.5887.4201","DOIUrl":"https://doi.org/10.37515/pediatric.5887.4201","url":null,"abstract":"Background: Tooth loss is a major dental health concern that has adverse consequences on the remaining dentition and on the patients’ general wellbeing. The present study aimed to assess predictors and causes of permanent tooth extraction among school students. Methods: This national cross- sectional study included school children and spanned from September 2012 to January 2016. Demographic, social, and medical history recorded. Periodontal and dental examinations were performed. Multivariable logistic regression was used to determine predictors of tooth loss among the sample. Results: A total of 2435 school children were included in the study. Twenty-four percent of the students had extraction of at least one permanent tooth. Almost 27% of the female students had a permanent tooth extraction compared to only 21.7% of the male students, which was statistically significant. Students who visited dentists regularly had significantly more tooth extraction (39%) than student who did not (20.6%). Multivariate logistic regression analysis showed significant predictors for permanent tooth extraction were age, regular dental visits and mean probing depth (PD). Caries (15%) followed by orthodontic treatment (6%) were the main reason for permanent tooth extraction among the sample. Conclusion: Caries was responsible for majority of tooth loss among the study population. Significant predictors for permanent tooth extraction were age, regular dental visits and mean probing depth. There is a need for intensified oral health education and awareness programs in the population with emphasis on prevention of dental caries.","PeriodicalId":448269,"journal":{"name":"Hong Kong Journal of Paediatrics Research","volume":"248 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121877825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The old antibiotic colistin: an update on its use in children 古老的抗生素粘菌素:儿童使用的最新情况
Hong Kong Journal of Paediatrics Research Pub Date : 2021-08-15 DOI: 10.37515/pediatric.5887.4203
S. Shahid
{"title":"The old antibiotic colistin: an update on its use in children","authors":"S. Shahid","doi":"10.37515/pediatric.5887.4203","DOIUrl":"https://doi.org/10.37515/pediatric.5887.4203","url":null,"abstract":"Colistin is an old antibiotic which has rekindled the interest of infectious doctors worldwide. It is a polypeptide antibiotic belonging to the polymyxin class of antibiotics. It was discovered in 1947 and clinicians started using it for gram-negative infections. But its main drawback of nephrotoxicity and availability of better and safe antibiotics led to its use getting obsolete. But when the bacteria showed alarming resistance to the higher antibiotics, colistin was revisited for such antimicrobial resistant strains of bacteria. Efficacy of colistin against multi-drug resistant bacteria makes it an antibiotic of choice in intensive care setups. It is used as a last-line in these severe life-threatening infections in adults and children. Despite having been known for over seventy years now, there are significant lacunae in knowledge on its pharmacokinetics, pharmacodynamics, and correct dosing. It also has the problem of variable labelling by manufacturers and resistance is also rising steadily to this antibiotic. Research is ongoing to collect more scientific data on its mechanism of action and pharmacokinetics but more studies are needed especially in children to be able to extend its use in them. Colistin does hold promise in the world of infections to tackle resistant nosocomial infections and prevent emergence of superbugs.","PeriodicalId":448269,"journal":{"name":"Hong Kong Journal of Paediatrics Research","volume":"60 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126708380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A case of status epilepticus developed after Alpha Lipoic Acid intake α硫辛酸摄入后出现癫痫持续状态1例
Hong Kong Journal of Paediatrics Research Pub Date : 2021-08-15 DOI: 10.37515/pediatric.5887.4202
Gürbüz Akçay, O. Güngör, H. Kocamaz, Bedirhan Günaydin
{"title":"A case of status epilepticus developed after Alpha Lipoic Acid intake","authors":"Gürbüz Akçay, O. Güngör, H. Kocamaz, Bedirhan Günaydin","doi":"10.37515/pediatric.5887.4202","DOIUrl":"https://doi.org/10.37515/pediatric.5887.4202","url":null,"abstract":"Introduction: Alpha Lipoic Acid (ALA) is an antioxidant used in diabetic neuropathy. It is not prescribed to children. However, rarely, intoxication may occur due to accidental or suicidal intake. Case report: A 16-month-old child presented with confusion after taking 1800 mg of ALA. Convulsions that did not respond to midazolam and levetiracetam started in the emergency room. He was admitted to the intensive care unit and was intubated. Convulsions could be controlled with intravenous Ketamine infusion. He received mechanical ventilation support for five days. Gastrointestinal bleeding developed during follow-up and was treated with pantoprazole. There were laboratory measurements consistent with metabolic acidosis. Central nervous system imaging and cerebrospinal fluid examinations were normal. Electroencephalograms taken under elective conditions were reported as normal for his age. He was discharged on the twelfth day of his hospitalization. Conclusion: Children and adults with suspected ALA intake should be referred to tertiary healthcare facilities as soon as possible. In the first stage, gastric lavage and activated charcoal should be applied. Since there is no specific antidote, it should be prepared to deal with resistant convulsions, metabolic acidosis, and multi-organ failure in addition to general supportive therapy.","PeriodicalId":448269,"journal":{"name":"Hong Kong Journal of Paediatrics Research","volume":"39 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133201248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Urınary tract ınfectıons in obese children and adolescents with their outcomes and clinical aspects Urınary道ınfectıons肥胖儿童和青少年及其结局和临床方面
Hong Kong Journal of Paediatrics Research Pub Date : 2021-04-30 DOI: 10.37515/pediatric.5887.4102
S. Şen, D. Kızılay, B. Ersoy
{"title":"Urınary tract ınfectıons in obese children and adolescents with their outcomes and clinical aspects","authors":"S. Şen, D. Kızılay, B. Ersoy","doi":"10.37515/pediatric.5887.4102","DOIUrl":"https://doi.org/10.37515/pediatric.5887.4102","url":null,"abstract":"Aim: The relationship between obesity and urinary tract infections (UTI) was reported in adult studies, but pediatric data is lacking. Methods: This prospective study included children, who were admitted to the outpatient clinic only with the complaint of obesity. UTI screening with symptomatic questioning and clinical feature was performed. Symptomatic participants were examined(urinalysis, culture, or/and blood work, imaging tests). Characteristics of those with UTI, and we determined an obese/overweight, but non-UTI control group matched with age and gender and conducted a case-control study. Results: In this study, 1001 participants were screened, UTI frequency was 3,39%, with 91,2% female predominance. The mean age of all participants was 11.44±3.21 years. All of the UTIs were lower tract infections. Escherichia coli(82,4%) was the most frequently isolated microorganism. History of UTI and hypertension was more frequent in the UTI group(n=34) compared with non UTI group (n=136)(p=0,001; p=0,001). Conclusion: In the UTI group, hypertension and previous UTI history were shown to be more common, so it may be important to question obese/overweight children for UTI at their clinical application.","PeriodicalId":448269,"journal":{"name":"Hong Kong Journal of Paediatrics Research","volume":"53 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"127559916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sound therapy in children 儿童声音疗法
Hong Kong Journal of Paediatrics Research Pub Date : 2021-04-30 DOI: 10.37515/pediatric.5887.4101
S. Shahid
{"title":"Sound therapy in children","authors":"S. Shahid","doi":"10.37515/pediatric.5887.4101","DOIUrl":"https://doi.org/10.37515/pediatric.5887.4101","url":null,"abstract":"Sound remains largely under-evaluated in the field of therapeutic medicine. It produces the desired changes both by the sound as well as the vibrational energy. Various modes have been used to deliver the energy to the individual. But studies on use of sound therapy in adults and children are limited and of poor design. In children, it has been tested in various conditions such as autism, developmental delays, in neonatal intensive care units on preterm babies, during MRI to lessen the anxiety and use of GA and sedatives, in ADHD, in pediatric cardiac care units, in childhood asthma, in emergency room patients, in chronic pain, neurological disabilities, and in troubled adolescents with substance abuse or neurotic disorders. The outcomes have been generally positive. But more large-scale and properly-designed comparative studies would be required before the low cost technology and safe sound therapy could be incorporated in the therapeutic armamentarium in children.","PeriodicalId":448269,"journal":{"name":"Hong Kong Journal of Paediatrics Research","volume":"24 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"122131118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Paternal and maternal zinc status: Do they have effect on fetal outcomes? 父亲和母亲的锌水平:它们对胎儿结局有影响吗?
Hong Kong Journal of Paediatrics Research Pub Date : 2021-04-30 DOI: 10.37515/pediatric.5887.4103
Bilge Özgör, M. Selimoğlu, Y. Türköz, Z. Aksungur, H. Bag
{"title":"Paternal and maternal zinc status: Do they have effect on fetal outcomes?","authors":"Bilge Özgör, M. Selimoğlu, Y. Türköz, Z. Aksungur, H. Bag","doi":"10.37515/pediatric.5887.4103","DOIUrl":"https://doi.org/10.37515/pediatric.5887.4103","url":null,"abstract":"Background: The deficiency of specific micronutrients in mothers including zinc increases the risk of pregnancy complications. Although there are many studies in literature describing the relationship between low maternal zinc levels and poor pregnancy outcomes including prematurity and low birth weight; there is not any study on paternal zinc level. In this study, we aimed to define the relationship between deficiency of maternal and paternal zinc levels and prematurity and low birth weight. Material and Methods: We determined the zinc levels of parents of preterm infants (102 mothers and 108 fathers) low birth weight infants (43 mothers and 42 fathers) and healthy term infants (108 mothers and 111 fathers). Results: We found that low maternal zinc levels increased the preterm delivery risk by 4.95 fold and each 10 mg increase in maternal zinc level resulted in 6.9 g increase in birth weight. We showed that the critical maternal cut off value of zinc level was 75UI/L. There was no effects of low paternal zinc level on preterm birth or low birth weight. Conclusion: It seems that zinc status of mothers is related to poor pregnancy outcomes such as prematurity and low birth weight and healthy nutrition of mothers is a simple strategy for prevention of those complications.","PeriodicalId":448269,"journal":{"name":"Hong Kong Journal of Paediatrics Research","volume":"8 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125134912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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