Anti-Hu antibody associated paraneoplastic neurological syndrome in a child with ganglioneuroblastoma: A rare case report and literature review.

RATIONALE: Paraneoplastic neurological syndrome with anti-Hu antibody (Hu-PNS) is a neurological disorder that occur in patients with malignancy. The syndrome has a wide range of presentations and can present before diagnosis of primary malignancy. Familiarity with these paraneoplastic neurological syndromes can help early recognition and take appropriate regimens. PATIENTS CONCERNS: Diagnosis and treatment of Hu-PNS. DIAGNOSES: This is retrospective study that analyzed the clinical data of this case. Through retrospective analysis and targeted antibody screening, serum anti-Hu antibody was detected. Subsequent spinal imaging revealed a mass in the paraspinal region, which was confirmed as ganglioneuroblastoma by pathologic examination. INTERVENTIONS: The child was treated with a course of intravenous immunoglobulin and radical surgical operation without chemotherapy. OUTCOMES: The neurological symptoms were gradually improved and no signs indicate disease progression or tumor recurrence. LESSONS: Hu-PNS has rarely been reported in children with ganglioneuroblastomas. They can mimic non-neoplastic processes, making detection and diagnosis difficult. Serum and/or cerebrospinal fluid onconeural antibody can strongly indicate occult cancers. Early detection of paraneoplastic neurological syndromes can help take appropriate regimens and improve prognosis.

Selumetinib in the Treatment of Orbital Plexiform Neurofibroma: A Case Report.

A 4-year-old boy with a known diagnosis of neurofibromatosis 1 (NF1) and a diffusely infiltrative plexiform neurofibroma (PN) of the left orbit was started on selumetinib treatment for progressively worsening amblyopia. The patient first presented with new-onset left ptosis at 11 months old. He subsequently developed refractory anisometropic amblyopia of the left eye, in addition to clinically significant left proptosis and hypoglobus that interfered with glasses wear for his amblyopia treatment. The plexiform neurofibroma was not amenable to surgical resection and selumetinib treatment was initiated 3 years after the initial diagnosis. The patient showed remarkable clinical and radiographic improvement in tumor burden after treatment. Best corrected visual acuity improved from 20/50 to 20/20- in his amblyopic eye. Relative proptosis of the affected eye also improved from 4mm to 2mm on Hertel measurements, which allowed for consistent glasses wear. Adverse effects from the treatment were limited to an acneiform rash, which resolved following dose reduction according to the FDA dosing guidelines.

Visual recovery after unilateral optic nerve sheath fenestration for pseudotumor cerebri syndrome.

PURPOSE: To evaluate the effect of optic nerve sheath fenestration (ONSF) on the rate of visual function improvement in patients with pseudotumor cerebri syndrome (PTCS). METHODS: Retrospective chart review of patients with PTCS who underwent ONSF between 1998 and 2017. Visual function was evaluated by evaluating visual field (VF), mean deviation (MD), retinal nerve fiber layer (RNFL) thickness, papilledema grade, and visual acuity (VA) prior to and after ONSF. RESULTS: Seventeen female patients aged 17 to 36 years underwent unilateral ONSF. Follow-up averaged 40.1 months. VF MD improved steadily in both eyes up to 12 months. Average RNFL thickness improved in the operated eye from 347 ± 166 mm to 92 ± 27 mm (p < .001) and the non-operated eyes from 306 ± 165 mm to 109 ± 46 mm (p < .001). The grade of papilledema improved in the operated eye from 3.3 ± 1.3 to 0.3 ± 0.7 and the non-operated eye from 3.0 ± 1.6 to 0.18 ± 0.4. There was an exponential rate of improvement in papilledema and RNFL thickness, with the greatest improvement occurring within the first 30 days. Average visual acuity remained intact in both eyes before and after surgery. CONCLUSIONS: ONSF in appropriately selected patients leads to rapid improvement in papilledema and a steady recovery in VF.

Lemierre syndrome associated mycotic cavernous sinus thrombosis and carotid aneurysm after COVID-19.

Purpose: The purpose of this article is to report a case of Lemierre syndrome associated mycotic aneurysm of the intracavernous carotid artery leading to cavernous sinus syndrome in an otherwise healthy, young man in the setting of COVID-19 infection. Observations: An 18-year-old, otherwise healthy male athlete developed fever, chills, and headache and was found to be positive for COVID-19 with gram negative bacteremia. While on systemic antibiotic treatment, he developed acute, left-sided, 6th nerve palsy and was found to have bacterial sinusitis, left-sided intracavernous mycotic aneurysm, and cavernous sinus thrombosis on imaging studies. Despite systemic antibiotic and antiplatelet therapy, he developed progressively worsening left-sided ophthalmoplegia and vision decline. He subsequently underwent left internal carotid artery embolization and cervical internal carotid artery sacrifice with excellent outcome. Conclusion and importance: Lemierre syndrome can have atypical presentations and complications, including cavernous sinus thrombosis and mycotic aneurysms. Recognition of signs and symptoms, including progressive multiple cranial neuropathies, can aid in early diagnosis and management, which requires multidisciplinary care tailored to each individual based on risk of intervention.

Obesity as a Prognostic Factor of Central Nervous System Relapse in Children with Acute Lymphoblastic Leukemia: A Single-Centre Study and Literature Review.

Relapse as the commonest treatment failure through chemotherapy of child presented with acute lymphoblastic leukemia (ALL) is usually within 3 years of remission. Central nervous system (CNS) is expected as a site of extramedullary relapse in 3-8% of child leukemia, often leading to a poor prognosis. A few patients may have headache and vomiting and can be diagnosed without difficulty. However, most patients present with asymptomatic conditions. Obesity has become one of the greatest reported complications of children ALL survivors. Rarely, obesity presentation can be the first manifestation of CNS leukemia. Here, we present three unusual cases with B-ALL presentation of obesity as the first symptom at the time of CNS relapse after achieving remission. This highly localized presentation is unusual and would hopefully inform clinicians to have a high index of suspicion for relapse in children with ALL.

Co-occurrence of TCF3-PBX1 gene fusion, and chromosomal aberration in a pediatric pre-B cell acute lymphoblastic leukemia with clitoris swelling: A case report and literature review.

RATIONALE: Clitoris swelling as the initial clinical presentation of acute lymphoblastic leukemia (ALL) is extremely rare. These patients may be misdiagnosed with acute myeloid leukemia or solid tumor, and the main treatment can also be delayed. PATIENT CONCERNS: A 2.10-year-old girl was referred to the pediatric surgery clinic with a worsening onset of clitoris swellings. The patient was afebrile and well appearing. Multiple retroperitoneal mass were confirmed by computed tomography (CT) and high serum neuron-specific enolase level was high. She was scheduled for an abdominal biopsy from the retroperitoneal mass suspicious of neuroblastoma. DIAGNOSES: The child was eventually diagnosed as having precursor B cell ALL with central nervous system involved, with TCF3-PBX1 fusion gene and additional chromosomal aberrations, based on examinations of the bone marrow and brain magnetic resonance imaging. INTERVENTIONS: Before the diagnosis of leukemia, the patient was given symptomatic treatment for 1 week. She was treated with chemotherapy in accordance with the Chinese Children's Cancer Group protocol 2015 after confirmed diagnosis. OUTCOMES: After induction chemotherapy for ALL, although the girl had transiently clinical remission, the bone marrow aspirate indicated a poor outcome. Our patient discontinued treatment and discharged. From literature review, there was only 1 case of in acute myeloid leukemia with clitoris swelling as the initial symptom. LESSONS: The clinical symptoms of ALL with clitoris swelling are not typical, with a high rate of misdiagnosis. When the cause of clitoris swelling is unknown, ALL should be considered. Bone marrow aspiration must be done before doing a more invasive investigation like biopsy.

Symptom and Quality of Life Improvements After Pelvic Floor Physical Therapy in a Clinical Population of Women With Pelvic Pain and Other Symptoms.

OBJECTIVES: This study aimed to evaluate changes in validated symptom scores at intake and discharge in women undergoing pelvic floor physical therapy (PFPT) for pain and other pelvic floor symptoms. METHODS: Consecutive women starting PFPT during 1 year were reviewed. History, demographics, and Pelvic Floor Distress Inventory Questionnaire - Short Form 20 (PFDI) total and domain scores (Pelvic Organ Prolapse Distress Inventory-6, Urogenital Distress Inventory-6, Colorectal-Anal Distress Inventory-8), Pelvic Floor Impact Questionnaire (PFIQ-7), and pain levels on a numeric rating scale (NRS) were collected at intake and discharge. Data were analyzed with descriptive statistics and sign tests. RESULTS: Of 474 women, mean age was 50.3 ± 16.7 years (range, 18-87 years) and the most common indication for PFPT was pelvic pain (208/474; 43.9%). In women with complete data, pretreatment to posttreatment median scores improved on the PFDI (77.3 vs 41.8; P < 0.0001), Urogenital Distress Inventory (37.5 vs 16.0; P < 0.0001), and PFIQ (58.0 vs 19.0; P < 0.0001), and the minimal clinically important difference was met for the PFDI, PFIQ, and Colorectal-Anal Distress Inventory. Women with primarily pelvic pain (n = 208) achieved significant improvements in PFDI, PFIQ, and NRS scores (P < 0.0001 for all) as well as the minimal clinically important difference for these measures. Pain patients with a history of pelvic surgery (n = 50) also had significant improvements in PFIQ and NRS but not PFDI scores. CONCLUSIONS: Most women referred to PFPT demonstrated symptom improvements as measured by validated instruments.

Hereditary Thrombotic Thrombocytopenic Purpura in a Chinese Boy With a Novel Compound Heterozygous Mutation of the ADAMTS13 Gene.

Hereditary thrombotic thrombocytopenic purpura (TTP) is caused by ADAMTS13 mutations with autosomal recessive inheritance. It typically presents during childhood and is frequently misdiagnosed as immune thrombocytopenia. We present a case of hereditary TTP with an undescribed compound heterozygous ADAMTS13 mutation in a Chinese boy. A 12-year-old boy with a history of intermittent thrombocytopenia in the prior 6 years had severe deficiency of plasma ADAMTS13 and harbored a novel compound heterozygous mutation which was also identified in his sister. The c.577C>T was a pathogenic variant reported exclusively in Japanese cases. The undescribed c.2397C>A non-sense mutation was predicted to encode a truncated protein. Identification of the specific novel heterozygous ADAMTS13 mutation in the Chinese family, consisting a variant restricted to Asian individuals and an undescribed c.2397C>A non-sense mutation, demonstrates genetic diversity underlying hereditary TTP, and possibly ethnic skewed mutation profiles.

Correlating Changes in the Macular Microvasculature and Capillary Network to Peripheral Vascular Pathologic Features in Familial Exudative Vitreoretinopathy.

PURPOSE: To evaluate the macular microvasculature in patients with familial exudative vitreoretinopathy (FEVR) using OCT angiography (OCTA) and to assess for peripheral vascular changes using widefield fluorescein angiography (WFA). DESIGN: Multicenter, retrospective, comparative, observational case series. PARTICIPANTS: We identified 411 patients with FEVR, examined between September 2014 and June 2018. Fifty-seven patients with FEVR and 60 healthy controls had OCTA images of sufficient quality for analysis. METHODS: Custom software was used to assess for layer-specific, quantitative changes in vascular density and morphologic features on OCTA by way of vessel density (VD), skeletal density (SD), fractal dimension (FD), vessel diameter index (VDI), and foveal avascular zone (FAZ). Widefield fluorescein angiography images were reviewed for peripheral vascular changes including capillary dropout, late-phase angiographic posterior and peripheral vascular leakage (LAPPEL), vascular dragging, venous-venous shunts, and arteriovenous shunts. MAIN OUTCOME MEASURES: Macular microvascular parameters on OCTA and peripheral angiographic findings on WFA. RESULTS: OCT angiography analysis of 117 patients (187 eyes; 92 FEVR patients and 95 control participants) demonstrated significantly reduced VD, SD, and FD and greater VDI in patients with FEVR compared with controls in the nonsegmented retina, superficial retinal layer (SRL), and deep retinal layer (DRL). The FAZ was larger compared with that in control eyes in the DRL (P < 0.0001), but not the SRL (P = 0.52). Subanalysis by FEVR stage showed the same microvascular changes compared with controls for all parameters. Widefield fluorescein angiography analysis of 95 eyes (53 patients) with FEVR demonstrated capillary nonperfusion in all eyes: 47 eyes (49.5%) showed LAPPEL, 32 eyes (33.7%) showed vascular dragging, 30 eyes (31.6%) had venous-venous shunts, and 33 eyes (34.7%) had arteriovenous shunts. Decreasing macular VD on OCTA correlated with increasing peripheral capillary nonperfusion on WFA. Decreasing fractal dimension on OCTA correlated with increasing LAPPEL severity on WFA. CONCLUSIONS: Patients with FEVR demonstrated abnormalities in the macular microvasculature and capillary network, in addition to the peripheral retina. The macular microvascular parameters on OCTA may serve as biomarkers of changes in the retinal periphery on WFA.

Clinicopathological and prognostic significance of chemokine receptor CXCR4 in patients with bone and soft tissue sarcoma: a meta-analysis.

The prognostic significance of CXC chemokine receptor 4 (CXCR4) in patients with bone and soft tissue sarcomas remains controversial. To investigate the impact of its expression on survival and clinicopathological features, we performed a meta-analysis. Comprehensive literature searches were conducted in PubMed, Web of Science, Embase and Cochrane Library for relevant studies. In total, 12 studies with 997 sarcoma patients were included. CXCR4 expression was found to be significantly associated with poor overall survival (HR 2.37, 95 % CI 1.86-3.01; P < 0.001). Further, when the analysis was stratified by histological subtypes (bony sarcoma including osteosarcoma and Ewing sarcoma and soft tissue sarcoma including synovial sarcoma and rhabdomyosarcoma), statistical analysis method (multivariate analysis and univariate analysis) and CXCR4 measuring method (IHC or RT-PCR), the significant correlation to poor overall survival was also observed except for that in Ewing sarcoma and RT-PCR groups. As for clinicopathological features, CXCR4 expression was significantly associated with higher rate of metastasis (OR 6.97, 95 % CI 2.28-21.31; P = 0.001) and higher tumor stage (OR 7.55, 95 % CI 1.25-45.47; P = 0.027), but not associated with gender, age and tumor site. In conclusion, CXCR4 expression may be an effective predictive factor of poor prognosis and clinicopathological features for bone and soft tissue sarcomas. Further studies are needed to validate our findings.

Rational Design and Facial Synthesis of Li3V2(PO4)3@C Nanocomposites Using Carbon with Different Dimensions for Ultrahigh-Rate Lithium-Ion Batteries.

Li3V2(PO4)3 (LVP) particles dispersed in different inorganic carbons (LVP@C) have been successfully synthesized via an in situ synthesis method. The inorganic carbon materials with different dimensions including zero-dimensional Super P (SP) nanospheres, one-dimensional carbon nanotubes (CNTs), two-dimensional graphene nanosheets, and three-dimensional graphite particles. The effects of carbon dimensions on the structure, morphology, and electrochemical performance of LVP@C composites have been systematically investigated. The carbon materials can maintain their original morphology even after oxidation (by NH4VO3) and high-temperature sintering (850 °C). LVP@CNT exhibits the best electrochemical performances among all of the samples. At an ultrahigh discharge rate of 100C, it presents a discharge capacity of 91.94 mAh g(-1) (69.13% of its theoretical capacity) and maintains 79.82% of its original capacity even after 382 cycles. Its excellent electrochemical performance makes LVP@CNT a promising cathode candidate for lithium-ion batteries.