Publications by authors named "Saori Endo"
To identify patients with infantile hemangioma (IH) in need of early-stage treatment in this multicenter, prospective, observational study, we investigated the potential of plasma cytokines as a clinically useful marker. Plasma samples were collected at three time points from 41 patients with infantile hemangioma: baseline (days 14-60 after delivery), visit 1 (days 61-150, the proliferative phase), and visit 2 (days 151-395, the involuting phase). With a twofold or more increase in tumor volume during the baseline-visit 1 period regarded as progression, progression was seen in 15 cases (36.
View Article and Find Full Text PDFEltrombopag is used with first-line immunosuppressive therapy for adult aplastic anemia, although its practical utility in childhood remains unclear. We retrospectively analyzed the outcomes of pediatric patients who received eltrombopag in Japan. Of the 27 eligible patients, 23 (85%) were previously treated, and 15 (56%) had severe or very-severe disease.
View Article and Find Full Text PDFIn this study, we developed a mycelial dispersion strain by disrupting the pkac2 gene in the white-rot fungus Pleurotus ostreatus. pkac2 is a catalytic subunit gene of protein kinase A, which regulates several transcription factors related to cell wall synthesis. Liquid cultures of the Δpkac2 strains showed very high mycelial dispersibility and were visibly different from the wild-type (WT) strain.
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- A population pharmacokinetic analysis was performed on data from 215 Japanese subjects taking oral sirolimus, identifying factors that affect the drug's pharmacokinetics across different age groups, including neonates, infants, and adults.
- The study found that sirolimus levels increased with higher hemoglobin and that the granule form had significantly higher exposure than the tablet form, while certain drugs decreased its levels significantly.
- The PopPK model developed can help customize sirolimus dosing for individuals based on their age and body weight to ensure effective treatment within the proper concentration range.
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- A 15-year follow-up of a man with a large symptomatic hepatic cyst showed it grew to cause epigastric fullness and obstructive jaundice.
- The patient received treatment through percutaneous cystic drainage and sclerotherapy with minocycline hydrochloride.
- This treatment significantly reduced the cyst's size, improved symptoms, and there was no recurrence for 670 days post-treatment.
Article Synopsis
- A low-level mutation (c.182 A > G, Q61R) in the NRAS gene was found in patients with kaposiform lymphangiomatosis, but its effects on lesion environment remain unclear.
- Researchers created NRASQ61R mutated lymphatic endothelial cells to analyze their morphology, function, and protein expression.
- The NRASQ61R cells exhibited poor tube formation, low proliferation, and high migration rates, with altered signaling pathways that could be mitigated by MEK inhibitor treatment.
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- Identifying cells infected by Epstein-Barr virus (EBV) is crucial for understanding the disease's development, creating treatment plans, and predicting patient outcomes.
- The study utilized the PrimeFlow™ RNA Assay Kit to detect EBV-encoded small RNAs (EBERs) in various patient groups, including those with chronic active EBV disease and other EBV-related disorders.
- Findings revealed that patients with chronic active EBV disease showed widespread infection in T and NK cells, while other disorders demonstrated a mix of infected cell types, indicating that EBV may affect multiple cell types beyond just B cells.
Introduction And Importance: The Kasabach-Merritt Phenomenon (KMP), characterized by thrombocytopenia and consumptive coagulopathy due to endothelial cell growth in the infantile vascular tumor kaposiform hemangioendothelioma, presents a therapeutic challenge. This case highlights the novel use of sirolimus in a neonate, an approach less explored in this age group.
Case Presentation: A female neonate presented with a right anterior chest mass, progressing to respiratory distress and congestive heart failure.
Article Synopsis
- Intractable lymphatic anomalies (LAs) include conditions like cystic lymphatic malformations and Gorham-Stout disease, which can cause severe symptoms, necessitating studies on potential treatments.
- A clinical trial conducted in Japan assessed the effectiveness of sirolimus, where 11 patients received daily doses and were monitored for changes in their conditions over 52 weeks.
- Results showed that 54.5% of patients experienced a partial response to treatment, with sirolimus proving to be safe and potentially improving symptoms and quality of life, although no complete responses were achieved.
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- Acute acquired comitant esotropia (AACE) is a condition where individuals experience sudden double vision and eye misalignment, often linked to underlying neurological issues like brainstem tumors.
- Two pediatric patients exhibited AACE as their initial symptom, but had normal eye movements and no other neurological signs, raising suspicion of digital display overuse as a potential trigger.
- MRI was utilized to confirm the diagnosis of AACE and rule out other conditions, emphasizing the importance of imaging to differentiate between esotropia causes, particularly regarding abducens nerve involvement.
Solid pseudopapillary neoplasm (SPN) is a rare pancreatic tumor that typically affects young women in the body and tail of the pancreas. SPN is often asymptomatic in the early stages, so it is initially discovered as a large tumor. In this report, we experienced a case of a relatively small SPN discovered in the setting of acute pancreatitis.
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- Transient abnormal myelopoiesis (TAM) is a condition often seen in newborns, especially those with Down syndrome, marked by high white blood cell counts and the presence of mutated megakaryoblasts carrying GATA1 gene mutations.
- A case study of a 2-month-old boy with Down syndrome showed that while his blood blasts resolved without treatment, he suffered from severe liver failure linked to fibrosis, highlighting the disease's dangers.
- The study suggests that a double-immunostaining technique for GATA1 and CD42b can effectively identify TAM-related blast cells, making it useful for routine clinical evaluations during crisis situations.
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- Multifocal lymphangioendotheliomatosis with thrombocytopenia is a rare disease marked by multiple vascular lesions and low platelet counts (thrombocytopenia) that complicate diagnosis due to varied symptoms.
- A case study of a male infant revealed severe thrombocytopenia linked to local inflammation, along with swollen extremities and soft tissue/bone involvement, but no gastrointestinal bleeding.
- Treatment with sirolimus and prednisolone successfully resolved the thrombocytopenia, and elevated levels of plasma angiopoietin-2 may serve as a helpful biomarker for this condition.
Regarding the prognosis of cases with advanced-stage hepatocellular carcinoma (HCC), a recent clinical study showed that the immune checkpoint inhibitors atezolizumab plus bevacizumab have superior efficacy to sorafenib. However, only a few reports have focused on their effects on extrahepatic metastases. We herein report a case of HCC in a 59-year-old man with intrahepatic lesions treated successfully by hepatic arterial chemoembolization, radiotherapy, and sorafenib; the extrahepatic lesion in the adrenal gland was treated by atezolizumab plus bevacizumab.
View Article and Find Full Text PDFA rare pediatric case of McCune-Albright syndrome with acute visual disturbance: Case report.
Medicine (Baltimore)
February 2022
Article Synopsis
- McCune-Albright syndrome (MAS) is a rare condition that includes complications like fibrous dysplasia (FD) and can lead to issues like facial deformities and pain; aneurysmal bone cysts (ABCs) can also occur as complications.
- A 9-year-old boy was admitted to the hospital with acute visual disturbances, and was diagnosed with an ABC associated with MAS, leading to surgical intervention.
- After the surgery, the patient's vision returned to normal with no recurrence of complications in three years; genetic analysis revealed a mutation related to the condition, highlighting the need to consider ABC in similar cases of visual loss and facial swelling.
Poorly differentiated chordoma (PDC) is a rare, aggressive subtype of chordoma. A two-year-old girl presented with cervical pain, limb paralysis and respiratory failure. Magnetic resonance imaging and positron emission tomography-computed tomography revealed a tumor compressing the pons at the clivus and osteoblastic metastatic lesions of the left upper arm and right iliac bone.
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- Giant cell glioblastoma (GCG) is a rare and aggressive brain tumor that mainly affects younger patients, including children, as highlighted by a case involving a 7-year-old girl with severe symptoms and a large tumor in the left frontal lobe.
- Initial misdiagnosis labeled the tumor as an atypical teratoid/rhabdoid tumor, but after treatments and surgeries, the definitive diagnosis was GCG, which indicated a more challenging prognosis.
- Despite various treatments, the tumor progressed, leading to further health complications and ultimately the girl's death, underscoring the need for careful monitoring and management of both the tumor and associated conditions like hydrocephalus.
Background: Interventional radiology (IVR), including balloon-occluded retrograde transvenous obliteration (BRTO) and percutaneous transhepatic obliteration (PTO), is performed for patients with intractable hepatic encephalopathy (HE). However, information on the appropriate coil for endovascular coiling for preventing recanalization is lacking. This study aimed to compare the different types of coils for endovascular coiling used in BRTO and PTO for cases of intractable HE.
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- - Desmoid-type fibromatosis (DTF) is a rare and aggressive soft tissue tumor that doesn’t spread to other parts of the body, and a unique case was found in a 1-year-old girl with a large intracranial DTF that recurred twice after surgery in 16 months.
- - The treatment involved three surgeries to remove the extensive tumor and its infiltration into the dura and frontal skull base, along with drilling to ensure complete removal.
- - The tumor was also treated with liquid nitrogen to combat its bone invasion, making it effective for pediatric patients, and there have been no recurrences in the last 8 months post-treatment.
Characterization of kaposiform lymphangiomatosis tissue-derived cells.
Pediatr Blood Cancer
October 2021
Article Synopsis
- Kaposiform lymphangiomatosis (KLA) is a systemic lymphatic disorder with unclear cellular origins, characterized by abnormal spindle-shaped endothelial cells expressing lymphatic markers.
- Researchers established cell lines from KLA tissues of two patients to analyze their morphology, gene expression, and reactions to specific pathway inhibitors.
- Results indicated that both cell lines had spindle morphology and unique marker expression, with potential therapeutic pathways identified for future KLA research and treatment options.
Vascular anomalies comprise a heterogeneous group of disorders caused by abnormal proliferation or development of vascular and/or lymphatic vessels. Vascular anomalies present with various symptoms and complications, but no standardized methods evaluate their severity, and to measure treatment outcomes is difficult. To assess the responsiveness of measurement scores for evaluating vascular anomaly skin lesions, we conducted a validation study to compare these measurement scores with patients' objective data.
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- Gliomatosis cerebri (GC) is a rare type of brain tumor associated with a poor prognosis, and its early diagnosis is challenging due to undetectable tumors in most patients.
- A study compared levels of serum vascular endothelial growth factor (VEGF)-121 in patients with GC, glioblastoma, and healthy controls, finding significantly higher levels in the cancer patients.
- After treatment with bevacizumab, VEGF-121 levels decreased in one GC patient, suggesting that measuring VEGF-121 could aid in diagnosing GC, monitoring the disease, and understanding its causes.
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- Rifaximin, a treatment for hyperammonemia in hepatic encephalopathy, was studied for its long-term effects on body composition and nutritional status in 21 patients.
- The study showed significant improvements in blood ammonia levels, controlling nutritional status (CONUT) scores, and albumin-bilirubin (ALBI) scores after 24 weeks of therapy.
- Overall, rifaximin not only reduces ammonia levels but also enhances nutritional status and liver function assessment, indicating benefits beyond its primary use.