Category: Pediatrics

Clinical diagnostic techniques for rare genetic diseases in children: current status, advances, and thoughts by Jin-Yue Huang

Rare diseases refer to a group of single diseases with low incidence rates, complex pathogeneses, severe disease conditions, and rapid progression. Most rare diseases have a genetic background and may occur in childhood. Paying attention to the rare genetic diseases in children and performing early diagnosis and treatment can effectively delay the course of disease…

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Recent research on cytokines associated with anti-N-methyl-D-aspartate receptor encephalitis by Ya-Xin Zheng

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune inflammatory disease of the central nervous system, and little is known about its immune mechanism at present. There is a lack of disease-related biomarkers in cerebrospinal fluid except anti-NMDAR antibody, which leads to delayed diagnosis and treatment in some patients. Therefore, there has been an increasing number of…

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Focal tonic seizures with asymmetrical posturing could allow voluntary movements: a lesson to not be misled for a non-epileptic event by Mitsumasa Fukuda

This report documents the clinical features of supplementary motor area seizures with voluntary movements in two patients. The first case describes a 13-year-old boy with a 2-year history of nocturnal seizures, characterized by an asymmetrical brief tonic posture followed by bilateral rapid hand shaking, but without impaired awareness. Magnetic resonance imaging revealed no abnormalities. Video…

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A case of accessory hepatic duct entering cystic duct successfully treated by laparoscopic cholecystectomy for cholecystolithiasis by Masahiro Tomita

Although laparoscopic cholecystectomy is a well-established surgical procedure, an accessory hepatic duct (AcHD) entering the cystic duct is poorly understood. A 77-year-old woman with symptomatic cholecystlithiasis was referred to our hospital. Abdominal ultrasonography indicated several small stones in the gall bladder. Magnetic resonance cholangiopancreatography (MRCP) did not reveal an anomalous cystic duct. Dissecting the gall…

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Biofeedback therapy for children: What is the maximum number of sessions we should offer? by Arighno Das

CONCLUSIONS: Clinical improvement from biofeedback for pediatric patients with dysfunctional voiding may take up to 9 months of therapy, but most cases that improve do so by 3 months. The effect of gender on biofeedback efficacy requires further study, but males may have slower response to biofeedback. Our data provides guidance on when maximum benefit…

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Inhibition of Integrin αvβ3-FAK-MAPK signaling constrains the invasion of T-ALL cells by Lan Huang

The role of adhesion receptor integrin αvβ3 in T-ALL was unclear. Firstly, we performed quantitative real-time PCR to assess medullary expression of integrin β3(ITGB3) in T-ALL patients and high ITGB3 expression was relevant with the central nervous system leukemia(CNSL) incidence. Decreasing of cell invasion was observed in Jurkat and Molt4 treated with integrin αvβ3 specific…

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Perioperative Management of Recurrent Hemophagocytic Syndrome in a Pregnant Woman: A Case Report by Ayako Sumii

BACKGROUND Hemophagocytic syndrome (HPS) is a rare syndrome characterized by abnormal activation of histiocytes and hemophagocytosis. We report the clinical management of recurrent HPS following 2 cesarean sections in the same patient. CASE REPORT A 33-year-old primiparous mother presented during her second trimester of pregnancy, and HPS was diagnosed based on pancytopenia, hyperferritinemia (13 170…

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Concurrent Validity of Measures of Upper Extremity Function Derived from Videogame-Based Motion Capture for Children with Hemiplegia by Richard J Adams

Objective: Pediatric hemiplegia is associated with wide-ranging deficits in arm and hand motor function, neg-atively impacting participation in daily occupations and quality of life. This study investigated whether performance measures generated during therapy videogame play by children with hemiplegia can be valid indicators of upper extremity motor function. Materials and Methods: Ten children with hemiplegia…

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Childhood Cancer Survivors’ Reported Late Effects, Motivations for Seeking Survivorship Care, and Patterns of Attendance by Christina Signorelli

CONCLUSION: Survivors report a range of health problems decades after treatment completion. Understanding the burden of late effects, and motivators for seeking survivorship care to manage these health problems, is important for ensuring that tailored interventions or services are available to meet the needs of this growing population and to design effective models of survivorship…

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