BackgroundHyaline fibromatosis syndrome (HFS) is a congenital disorder characterized by subcutaneous skin nodules, congenital multiple arthrogryposis, gingival hyperplasia, and chronic pain. The intellectual ability of patients with HFS is generally normal. This syndrome arises from variants of ANTXR2. Thus far, about 100 cases have been reported but few of these were reported from Japan.MethodsThis study reports five additional Japanese patients with genetically confirmed HFS, from unrelatd families, and discusses the clinical course and quality of life of these patients.ResultsAt our last visit the ages of the patients were 3–19 years (the median age was 5 years). All the patients had arthrogryposis, skin nodules, and gingival hyperplasia, and four patients had chronic pain, all of which are distinctive, clinical characteristics of HFS. Four of the patients (80%) had pruritic skin nodules, and three experienced sleep disruptions due to pruritis. The visceral complications are an index of HFS severity. One patient in the present cohort had a mucosal abnormality without any gastrointestinal symptoms.ConclusionPreventive and routine management of pruritis caused by skin nodules should be shared with the patient's family. Even asymptomatic patients might have endoscopic finding, which would be a soft marker that could predict the development of protein losing enteropathy.
{"title":"Prognostic factors for wellbeing in patients with hyaline fibromatosis syndrome","authors":"Hiroshi Futagawa, Shiho Ito, Kenji Hosoi, Ikkei Tamada, Kiyokazu Ogata, Kentaro Fukuda, Haruka Yamanaka, Maho Kuroda, Chiharu Suda, Kenji Shimizu, Hiroshi Yoshihashi","doi":"10.1111/ped.15797","DOIUrl":"https://doi.org/10.1111/ped.15797","url":null,"abstract":"BackgroundHyaline fibromatosis syndrome (HFS) is a congenital disorder characterized by subcutaneous skin nodules, congenital multiple arthrogryposis, gingival hyperplasia, and chronic pain. The intellectual ability of patients with HFS is generally normal. This syndrome arises from variants of <jats:italic>ANTXR2</jats:italic>. Thus far, about 100 cases have been reported but few of these were reported from Japan.MethodsThis study reports five additional Japanese patients with genetically confirmed HFS, from unrelatd families, and discusses the clinical course and quality of life of these patients.ResultsAt our last visit the ages of the patients were 3–19 years (the median age was 5 years). All the patients had arthrogryposis, skin nodules, and gingival hyperplasia, and four patients had chronic pain, all of which are distinctive, clinical characteristics of HFS. Four of the patients (80%) had pruritic skin nodules, and three experienced sleep disruptions due to pruritis. The visceral complications are an index of HFS severity. One patient in the present cohort had a mucosal abnormality without any gastrointestinal symptoms.ConclusionPreventive and routine management of pruritis caused by skin nodules should be shared with the patient's family. Even asymptomatic patients might have endoscopic finding, which would be a soft marker that could predict the development of protein losing enteropathy.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"16 1","pages":"e15797"},"PeriodicalIF":1.4,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142176704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
<p>Every neonate requires a detailed examination of the external genitalia for sex assignment. Conventional approaches for the examination in female extremely low birthweight (ELBW) neonates in the closed incubator are challenging. Under direct visual inspection from outside the closed incubator, evaluation may be insufficient, owing to the small body size. It is necessary to lift the lower limbs and buttocks to enable physicians to examine the perineum thoroughly. However, this practice is potentially against the minimal handling protocol for ELBW neonates. In a previous study, an endoscope-assisted technique helped physicians to identify the urethral meatus in a male ELBW neonate with hypospadias.<span><sup>1</sup></span> It remains unknown whether this endoscope-assisted technique can be applied to examinations of perineum of female ELBW neonates. Here, using a mobile airwayscope with a monitor, we examined the external genitalia in a 483 g female neonate.</p> <p>The patient was born via vaginal delivery to a healthy mother at 22 weeks and 3 days of gestation due to impending preterm labor caused by cervical incompetence. The birthweight was 483 g (−0.78 SD). The patient was intubated and on mechanical ventilation in a closed incubator. The external genitalia of the patient were too small for adequate examination from outside the incubator (Figure 1a). On postnatal day 5, using a flexible mobile airwayscope, we examined the external genitalia of the patient remaining in the incubator for 7 min (Figure 1b). The mobile airwayscope (Olympus MAF-DM2, Olympus Corporation, Tokyo, Japan) had the following specifications: (i) a monitor allowing the inspector to manipulate the scope safely and effectively; (ii) a picture or video recording function; (iii) light emitting diode at the tip to illuminate objects; (iv) a 3.1 mm tip diameter, and (v) a length of 600 mm. During the mobile airwayscope-assisted examination, we identified a vaginal vestibule-like structure with no swelling of the labioscrotal folds; however, we could not identify the urethral meatus (Figure 1c). By retrospectively evaluating still images, the anogenital ratio and clitoral width were estimated to be 0.45, and 5.8 mm, respectively (Figure 1c,d). After the examination, the patient did not develop any fluctuations in vital signs or infectious diseases. Since the patient was not in good condition, abdominal ultrasonography for internal genitalia was not performed. We extracted DNA from the umbilical cords. A polymerase chain reaction revealed the absence of <i>SRY</i> (data not shown). Our medical differences of sex development team discussed the clinical information and results of the examinations, including images of the external genitalia. We shared the discussion and limitations with the parents, namely no reference ranges or normal findings in ELBW neonates' external genitalia. On postnatal day 11, the parents assigned and registered their baby's sex as female.</p> <figure><pict
{"title":"Usefulness of a mobile airwayscope with a monitor in examination of the external genitalia of a 483 g female neonate","authors":"Tairin Hiraizumi, Takeshi Sato, Hisato Kobayashi, Takeshi Arimitsu, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa","doi":"10.1111/ped.15759","DOIUrl":"https://doi.org/10.1111/ped.15759","url":null,"abstract":"<p>Every neonate requires a detailed examination of the external genitalia for sex assignment. Conventional approaches for the examination in female extremely low birthweight (ELBW) neonates in the closed incubator are challenging. Under direct visual inspection from outside the closed incubator, evaluation may be insufficient, owing to the small body size. It is necessary to lift the lower limbs and buttocks to enable physicians to examine the perineum thoroughly. However, this practice is potentially against the minimal handling protocol for ELBW neonates. In a previous study, an endoscope-assisted technique helped physicians to identify the urethral meatus in a male ELBW neonate with hypospadias.<span><sup>1</sup></span> It remains unknown whether this endoscope-assisted technique can be applied to examinations of perineum of female ELBW neonates. Here, using a mobile airwayscope with a monitor, we examined the external genitalia in a 483 g female neonate.</p>\u0000<p>The patient was born via vaginal delivery to a healthy mother at 22 weeks and 3 days of gestation due to impending preterm labor caused by cervical incompetence. The birthweight was 483 g (−0.78 SD). The patient was intubated and on mechanical ventilation in a closed incubator. The external genitalia of the patient were too small for adequate examination from outside the incubator (Figure 1a). On postnatal day 5, using a flexible mobile airwayscope, we examined the external genitalia of the patient remaining in the incubator for 7 min (Figure 1b). The mobile airwayscope (Olympus MAF-DM2, Olympus Corporation, Tokyo, Japan) had the following specifications: (i) a monitor allowing the inspector to manipulate the scope safely and effectively; (ii) a picture or video recording function; (iii) light emitting diode at the tip to illuminate objects; (iv) a 3.1 mm tip diameter, and (v) a length of 600 mm. During the mobile airwayscope-assisted examination, we identified a vaginal vestibule-like structure with no swelling of the labioscrotal folds; however, we could not identify the urethral meatus (Figure 1c). By retrospectively evaluating still images, the anogenital ratio and clitoral width were estimated to be 0.45, and 5.8 mm, respectively (Figure 1c,d). After the examination, the patient did not develop any fluctuations in vital signs or infectious diseases. Since the patient was not in good condition, abdominal ultrasonography for internal genitalia was not performed. We extracted DNA from the umbilical cords. A polymerase chain reaction revealed the absence of <i>SRY</i> (data not shown). Our medical differences of sex development team discussed the clinical information and results of the examinations, including images of the external genitalia. We shared the discussion and limitations with the parents, namely no reference ranges or normal findings in ELBW neonates' external genitalia. On postnatal day 11, the parents assigned and registered their baby's sex as female.</p>\u0000<figure><pict","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"17 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140626271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BackgroundThe incidence of coronavirus disease 2019 (COVID‐19) in children has been increasing worldwide since the onset of the pandemic. This study examined the risk factors and characteristics of COVID‐19 among pediatric patients compared to other respiratory viral infections.MethodsThis was a prospective cross‐sectional study. Patients aged 0–18 years presenting with respiratory symptoms from October 2020 to December 2021 were included. Demographic and clinical data were reviewed.ResultsIn total, 738 pediatric patients were enrolled. Of these, 48.5% had COVID‐19, and 41.3% were infected with another respiratory virus. The COVID‐19 incidence increased from 0.5% during the original strain outbreak (October 2020 to March 2021) to 56.5% and 73.4% during the alpha (April to June 2021) and delta (July to December 2021) periods, respectively. Children aged 6‐18 years, being female, obesity, exposure to household members with COVID‐19, and the delta period were risk factors for COVID‐19. Being aged 1‐5 years, obesity, shortness of breath, productive cough, and chest pain were associated with COVID‐19 pneumonia. Children aged 5–18 years, underlying neurological disease, a history of COVID‐19 pneumonia, and the delta period were associated with long COVID.ConclusionsPediatric COVID‐19 patients presenting with respiratory symptoms who are obese or have been exposed to household members with COVID‐19 should be tested for COVID‐19. COVID‐19 patients who are obese, younger than five years old, or who present with shortness of breath, productive cough, or chest pain should be evaluated for pneumonia. COVID‐19 patients with a history of COVID‐19 pneumonia or underlying neurological disease should receive follow‐up for long COVID.
{"title":"Severe acute respiratory syndrome coronavirus 2 infection rate among pediatric patients with respiratory symptoms","authors":"Penpitcha Samerton, Nopporn Apiwattanakul, Surapat Assawawiroonhakarn, Thiantip Sahakijpicharn, Rakruthai Thongchai, Chonnamet Techasaensiri, Sophida Boonsathorn, Sujittra Chaisavaneeyakorn","doi":"10.1111/ped.15740","DOIUrl":"https://doi.org/10.1111/ped.15740","url":null,"abstract":"BackgroundThe incidence of coronavirus disease 2019 (COVID‐19) in children has been increasing worldwide since the onset of the pandemic. This study examined the risk factors and characteristics of COVID‐19 among pediatric patients compared to other respiratory viral infections.MethodsThis was a prospective cross‐sectional study. Patients aged 0–18 years presenting with respiratory symptoms from October 2020 to December 2021 were included. Demographic and clinical data were reviewed.ResultsIn total, 738 pediatric patients were enrolled. Of these, 48.5% had COVID‐19, and 41.3% were infected with another respiratory virus. The COVID‐19 incidence increased from 0.5% during the original strain outbreak (October 2020 to March 2021) to 56.5% and 73.4% during the alpha (April to June 2021) and delta (July to December 2021) periods, respectively. Children aged 6‐18 years, being female, obesity, exposure to household members with COVID‐19, and the delta period were risk factors for COVID‐19. Being aged 1‐5 years, obesity, shortness of breath, productive cough, and chest pain were associated with COVID‐19 pneumonia. Children aged 5–18 years, underlying neurological disease, a history of COVID‐19 pneumonia, and the delta period were associated with long COVID.ConclusionsPediatric COVID‐19 patients presenting with respiratory symptoms who are obese or have been exposed to household members with COVID‐19 should be tested for COVID‐19. COVID‐19 patients who are obese, younger than five years old, or who present with shortness of breath, productive cough, or chest pain should be evaluated for pneumonia. COVID‐19 patients with a history of COVID‐19 pneumonia or underlying neurological disease should receive follow‐up for long COVID.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"10 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140625978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Compartment syndrome due to group A streptococcal infection associated with intramuscular venous malformation","authors":"Masashi Taniguchi, Yu Inata, Yoshiyuki Shimizu, Daisuke Tamura, Muneyuki Takeuchi","doi":"10.1111/ped.15756","DOIUrl":"https://doi.org/10.1111/ped.15756","url":null,"abstract":"","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"59 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140625980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BackgroundThis study aimed to assess the validity of the oxygenation saturation index (OSI) and the ratio of oxygen saturation to the fraction of inspired oxygen (FIO2) (S/F ratio) with percutaneous oxygen saturation (OSISpO2 and the Sp/F ratio) and to evaluate the correlation between these values and the oxygen index (OI). It also determined their cut‐off values for predicting OI in accordance with neonatal hypoxic respiratory failure severity.MethodsWe reviewed the data of 77 neonates (gestational age 31.7 ± 6.1 weeks; birthweight, 1768 ± 983 g) requiring invasive mechanical ventilation between 2013 and 2020, 1233 arterial blood gas samples in total. We calculated the OI, OSISpO2, OSI with arterial oxygen saturation (SaO2) (OSISaO2), Sp/F ratio, and the ratio of SaO2 to FIO2 (Sa/F ratio).ResultsThe regression and Bland–Altman analysis showed good agreement between OSISpO2 or the Sp/F ratio and OSISaO2 or the Sa/F ratio. Although a significant positive correlation was found between OSISpO2 and OI, OSISpO2 was overestimated in SpO2 > 98% with a higher slope of the fitted regression line than that below 98% of SpO2. Furthermore, receiver‐operating characteristic curve analysis using only SpO2 ≤ 98% samples showed that the optimal cut‐off points of OSISpO2 and the Sp/F ratio for predicting OI were: OI 5, 3.0 and 332; OI 10, 5.3 and 231; OI 15, 7.7 and 108; OI 20, 11.0 and 149; and OI 25, 17.1 and 103, respectively.ConclusionThe cut‐off OSISpO2 and Sp/F ratio values could allow continuous monitoring for oxygenation changes in neonates with the potential for wider clinical applications.
{"title":"Oxygenation saturation index in neonatal hypoxemic respiratory failure","authors":"Shinichiro Tsurukawa, Masashi Zuiki, Yuki Naito, Kazumasa Kitamura, Utsuki Matsumura, Takuyo Kanayama, Eisuke Ichise, Go Horiguchi, Satoshi Teramukai, Hiroshi Komatsu","doi":"10.1111/ped.15753","DOIUrl":"https://doi.org/10.1111/ped.15753","url":null,"abstract":"BackgroundThis study aimed to assess the validity of the oxygenation saturation index (OSI) and the ratio of oxygen saturation to the fraction of inspired oxygen (F<jats:sub>I</jats:sub>O<jats:sub>2</jats:sub>) (S/F ratio) with percutaneous oxygen saturation (OSI<jats:sub>SpO2</jats:sub> and the S<jats:sub>p</jats:sub>/F ratio) and to evaluate the correlation between these values and the oxygen index (OI). It also determined their cut‐off values for predicting OI in accordance with neonatal hypoxic respiratory failure severity.MethodsWe reviewed the data of 77 neonates (gestational age 31.7 ± 6.1 weeks; birthweight, 1768 ± 983 g) requiring invasive mechanical ventilation between 2013 and 2020, 1233 arterial blood gas samples in total. We calculated the OI, OSI<jats:sub>SpO2</jats:sub>, OSI with arterial oxygen saturation (SaO<jats:sub>2</jats:sub>) (OSI<jats:sub>SaO2</jats:sub>), S<jats:sub>p</jats:sub>/F ratio, and the ratio of SaO<jats:sub>2</jats:sub> to F<jats:sub>I</jats:sub>O<jats:sub>2</jats:sub> (S<jats:sub>a</jats:sub>/F ratio).ResultsThe regression and Bland–Altman analysis showed good agreement between OSI<jats:sub>SpO2</jats:sub> or the S<jats:sub>p</jats:sub>/F ratio and OSI<jats:sub>SaO2</jats:sub> or the S<jats:sub>a</jats:sub>/F ratio. Although a significant positive correlation was found between OSI<jats:sub>SpO2</jats:sub> and OI, OSI<jats:sub>SpO2</jats:sub> was overestimated in SpO<jats:sub>2</jats:sub> > 98% with a higher slope of the fitted regression line than that below 98% of SpO<jats:sub>2</jats:sub>. Furthermore, receiver‐operating characteristic curve analysis using only SpO<jats:sub>2</jats:sub> ≤ 98% samples showed that the optimal cut‐off points of OSI<jats:sub>SpO2</jats:sub> and the S<jats:sub>p</jats:sub>/F ratio for predicting OI were: OI 5, 3.0 and 332; OI 10, 5.3 and 231; OI 15, 7.7 and 108; OI 20, 11.0 and 149; and OI 25, 17.1 and 103, respectively.ConclusionThe cut‐off OSI<jats:sub>SpO2</jats:sub> and S<jats:sub>p</jats:sub>/F ratio values could allow continuous monitoring for oxygenation changes in neonates with the potential for wider clinical applications.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"87 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140625972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ho Quoc Chuong, Phan Thi Xinh, Duong Bich Tram, Nguyen Thi Thanh Ha, Tuan Minh Nguyen, Phan Nguyen Lien Anh, Nguyen Dinh Van, Nguyen Hoang Mai Anh, Phu Chi Dung, Huynh Nghia, Hoang Anh Vu
BackgroundWAS gene mutational analysis is crucial to establish a definite diagnosis of Wiskott–Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported.MethodsWe recruited 97 male, unrelated patients with WAS and analyzed WAS gene mutation using Sanger sequencing technology.ResultsWe identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non‐stop mutations. Most mutations appear only once, with the exception of c.37C>T (p.R13X) and c.374G>A (p.G125E) each of which occurs twice in unrelated patients.ConclusionOur data enrich the mutational spectrum of the WAS gene and are crucial for understanding the genetic background of WAS and for supporting genetic counseling.
{"title":"Spectrum of WAS gene mutations in Vietnamese patients with Wiskott–Aldrich syndrome","authors":"Ho Quoc Chuong, Phan Thi Xinh, Duong Bich Tram, Nguyen Thi Thanh Ha, Tuan Minh Nguyen, Phan Nguyen Lien Anh, Nguyen Dinh Van, Nguyen Hoang Mai Anh, Phu Chi Dung, Huynh Nghia, Hoang Anh Vu","doi":"10.1111/ped.15770","DOIUrl":"https://doi.org/10.1111/ped.15770","url":null,"abstract":"Background<jats:italic>WAS</jats:italic> gene mutational analysis is crucial to establish a definite diagnosis of Wiskott–Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported.MethodsWe recruited 97 male, unrelated patients with WAS and analyzed <jats:italic>WAS</jats:italic> gene mutation using Sanger sequencing technology.ResultsWe identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non‐stop mutations. Most mutations appear only once, with the exception of c.37C>T (p.R13X) and c.374G>A (p.G125E) each of which occurs twice in unrelated patients.ConclusionOur data enrich the mutational spectrum of the <jats:italic>WAS</jats:italic> gene and are crucial for understanding the genetic background of WAS and for supporting genetic counseling.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"21 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140626270","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Diseases are caused by genetic and/or environmental factors. It is important to understand the pathomechanism of monogenic diseases that are caused only by genetic factors, especially prenatal‐ or childhood‐onset diseases for pediatricians. Identifying “novel” disease genes and elucidating how genomic changes lead to human phenotypes would develop new therapeutic approaches for rare diseases for which no fundamental cure has yet been established. Genomic analysis has evolved along with the development of analytical techniques, from Sanger sequencing (first‐generation sequencing) to techniques such as comparative genomic hybridization, massive parallel short‐read sequencing (using a next‐generation sequencer or second‐generation sequencer) and long‐read sequencing (using a next‐next generation sequencer or third‐generation sequencer). I have been researching human genetics using conventional and new technologies, together with my mentors and numerous collaborators, and have identified genes responsible for more than 60 diseases. Here, an overview of genomic analyses of monogenic diseases that aims to identify novel disease genes, and several examples using different approaches depending on the disease characteristics are presented.
{"title":"Identifying novel disease genes and revealing the pathomechanism of monogenic diseases","authors":"Noriko Miyake","doi":"10.1111/ped.15760","DOIUrl":"https://doi.org/10.1111/ped.15760","url":null,"abstract":"Diseases are caused by genetic and/or environmental factors. It is important to understand the pathomechanism of monogenic diseases that are caused only by genetic factors, especially prenatal‐ or childhood‐onset diseases for pediatricians. Identifying “novel” disease genes and elucidating how genomic changes lead to human phenotypes would develop new therapeutic approaches for rare diseases for which no fundamental cure has yet been established. Genomic analysis has evolved along with the development of analytical techniques, from Sanger sequencing (first‐generation sequencing) to techniques such as comparative genomic hybridization, massive parallel short‐read sequencing (using a next‐generation sequencer or second‐generation sequencer) and long‐read sequencing (using a next‐next generation sequencer or third‐generation sequencer). I have been researching human genetics using conventional and new technologies, together with my mentors and numerous collaborators, and have identified genes responsible for more than 60 diseases. Here, an overview of genomic analyses of monogenic diseases that aims to identify novel disease genes, and several examples using different approaches depending on the disease characteristics are presented.","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"21 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140626057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Subspecialty Meetings of The Japan Pediatric Society 2024","authors":"","doi":"10.1111/ped.15751","DOIUrl":"https://doi.org/10.1111/ped.15751","url":null,"abstract":"","PeriodicalId":20039,"journal":{"name":"Pediatrics International","volume":"33 1","pages":""},"PeriodicalIF":1.4,"publicationDate":"2024-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139954770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：