Liver Biopsy-Associated Diagnosis of Glycogen Storage Disease Type IV (Andersen Disease) [0.03%]
肝活检在糖原累积病Ⅳ型( Andersen病)诊断中的应用
Ryou Ishikawa,Takeo Kondo,Sonoko Kondo et al.
Ryou Ishikawa et al.
Glycogen storage disease type IV (Andersen disease) is caused by a deficiency of the glycogen branching enzyme. We report a case in which liver biopsy played a key role in establishing the diagnosis. A 2-year-old girl presented to our hospi...
Pediatric SMARCB1/INI1-Deficient Undifferentiated Pancreatic Carcinoma: Presentation of an Additional Case of a Rare Tumor [0.03%]
SMARCB1/INI1缺陷型儿童胰腺癌一例报告
Di Ding,Dongmei Ding,Feng Tian et al.
Di Ding et al.
Objective: To investigate the clinical and pathological features of pediatric SMARCB1/INI-1 deficient undifferentiated pancreatic carcinoma. Methods: ...
Periventricular Leukomalacia in a Preterm Cohort: Associations With Placental Pathology [0.03%]
早产儿脑室周围白质软化与胎盘病理改变的关系
Soha Ramadan,Andrew Franklin,Alexa Freedman et al.
Soha Ramadan et al.
Introduction: Preterm infants are at risk for white matter brain injury characterized by periventricular leukomalacia (PVL) with exposure to in-utero inflammation. Our aim was to correlate placental pathology with PVL in ...
Rhabdomyomatous Mesenchymal Hamartoma: Expanding the Histological Spectrum of This Rare Congenital Entity [0.03%]
肌样间叶性错构瘤的组织学谱系扩展——一种罕见先天性疾病的研究
Ivan De La Riva,Karina Vivar,Pauline Chou et al.
Ivan De La Riva et al.
Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare, benign lesion composed of disorganized skeletal muscle and mesenchymal elements within the dermis and subcutis. It typically arises in midline locations of the head, neck, and trunk dur...
Bone Marrow Morphology in Hereditary Thrombocytosis May Show Features of Myeloproliferative Neoplasms: A Case Report of a Child with Homozygous MPL Baltimore Germline Variant and Review of Literature [0.03%]
遗传性血小板增多症骨髓细胞形态可能表现出髓系肿瘤特征：MPL巴尔的摩基因变异纯合子儿童病例报告及文献回顾
Roopa Kodimyala,Kristina Brannock,Amanda Campbell et al.
Roopa Kodimyala et al.
Hereditary thrombocytosis (HT) is a rare cause of elevated platelet counts in children, most commonly resulting from germline variants in THPO or MPL. We report the first description of bone marrow morphology in a pediatric patient with ger...
Regenerative Nodule as a Diagnostic Dilemma in the Neonate With Acute Liver Failure and a Focal Liver Lesion [0.03%]
新生儿急性肝衰竭伴肝脏占位的诊断难题——再生结节
Claire Castaneda,Jessica Gulliver,Katryn Furuya et al.
Claire Castaneda et al.
Acute liver failure in the neonate generates a broad differential diagnosis of varying etiology including inborn errors of metabolism, infections, cholestatic disorders, gestational alloimmune liver disease (GALD), alpha-1 antitrypsin defic...
Bilateral Glomerulocystic Kidney Disease With Extensive Embryonal Hyperplasia in a Setting of HNF1B Mutation [0.03%]
HNF1B突变背景下双侧肾球囊性肾病伴广泛的胚胎增生
Jacob A Havens,Benjamin C Hill,Daniel I Feig et al.
Jacob A Havens et al.
Glomerulocystic renal disease has numerous etiologies, including HNF1B mutations. In addition to cysts, morphologic renal findings in a setting of HNF1B mutations include cystic renal dysplasia, solitary functioning kidney, horseshoe kidney...
Nerve Pathology in Children with Anterior Cutaneous Nerve Entrapment Syndrome [0.03%]
前切神经卡压综合征患儿的神经病理学表现
Ashley Stoeckel,Sanda Alexandrescu,David P Mooney
Ashley Stoeckel
Introduction: Anterior cutaneous nerve entrapment syndrome (ACNES) is an underdiagnosed, but common, cause of abdominal pain in children. It is unknown if the involved nerves are normal or are pathologic and should be div...
The Phenotype and Clinical Course of Pediatric Crohn's Disease With Granulomas: A Retrospective Cohort Study [0.03%]
儿童克罗恩病伴肉芽肿的临床表型和病程：回顾性队列研究
Bilge S Akkelle,Pinar Ay,Cigdem Celikel et al.
Bilge S Akkelle et al.
Objectives: The significance of granulomas has still not been clarified in pediatric onset Crohn's disease (CD). The aim of this study was to investigate the phenotype and clinical course in CD patients with granuloma in ...
The Association of Fetal Cyanotic Versus Non-Cyanotic Cardiac Malformations and Placental Vascular Malperfusion [0.03%]
胎儿发绀型与非发绀型先天性心脏病与胎盘血管灌注不良关联性分析
Esra Karakus,Merve Emin,Merve Ozturk Agaoglu et al.
Esra Karakus et al.
Objective: Placental abnormalities are frequently observed in congenital heart disease (CHD) pregnancies, yet detailed histopathological evaluations are limited. This study investigated placental vascular lesions in CHD c...