On reactive Ion Etching of Parylene-C with Simple Photoresist Mask for Fabrication of High Porosity Membranes to Capture Circulating and Exfoliated Tumor Cells.

A high porosity micropore arrayed parylene membrane is a promising device that is used to capture circulating and exfoliated tumor cells (CTCs and ETCs) for liquid biopsy applications. However, its fabrication still requires either expensive equipment or an expensive process. Here, we report on the fabrication of high porosity (>40%) micropore arrayed parylene membranes through a simple reactive ion etching (RIE) that uses photoresist as the etching mask.

Disseminated Blastomycosis in an African American immunocompetent pediatric patient: Lessons learned.

Disseminated blastomycosis can be challenging to diagnose given possible involvement of nearly any extrapulmonary organ system and the limitations of fungal diagnostic testing. Certain racial groups are at increased risk of disseminated fungal infections, even in immunocompetent patients. We describe a case of disseminated blastomycosis with cutaneous involvement in an African American adolescent with delayed diagnosis.

A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.

Purpose: RAS genes (HRAS, KRAS, and NRAS) are commonly found to be mutated in cancers, and activating RAS variants are also found in disorders of somatic mosaicism (DoSM). A survey of the mutational spectrum of RAS variants in DoSM has not been performed.

Methods: A total of 938 individuals with suspected DoSM underwent high-sensitivity clinical next-generation sequencing-based testing.

Central Nervous System Metabolism in Autism, Epilepsy and Developmental Delays: A Cerebrospinal Fluid Analysis.

Neurodevelopmental disorders are associated with metabolic pathway imbalances; however, most metabolic measurements are made peripherally, leaving central metabolic disturbances under-investigated. Cerebrospinal fluid obtained intraoperatively from children with autism spectrum disorder (ASD, = 34), developmental delays (DD, = 20), and those without known DD/ASD ( = 34) was analyzed using large-scale targeted mass spectrometry. Eighteen also had epilepsy (EPI).

Cryopreservation of Ovarian Tissue for Pediatric Fertility.

Intensive treatments necessary to treat some childhood malignancies and other conditions, as well as certain anatomic variations, may lead to infertility in adulthood. Until recently, no fertility preservation options for prepubertal females were available. However, ovarian tissue cryopreservation has emerged as a safe and effective option for these children.

Mind the Quality Gap When Banking on Dry Blood Spots.

Dry blood spots (DBS) offer many advantages over other blood banking protocols due to the reduction of time and equipment needed for collection and the ease of processing, storage, and shipment. In addition, the sample size makes it a very attractive method when considering the banking of small pediatric samples. On that note, the Centers for Disease Control and Prevention (CDC) preanalytical standards for DBS are commonly used in the worldwide mass spectrometry-based inborn errors of metabolism screening programs.

Ovarian Sex Cord Stromal Tumor, Steroid Cell, NOS in an Adolescent: A Case Report.

Background: Ovarian steroid cell tumor, not otherwise specified (NOS), is a rare type of sex cord stromal tumor, which often presents with androgenic symptoms and has a high frequency of malignancy.

Case: This is a case of a 14-year-old Native American girl who presented with acne, amenorrhea, and virilization and was found to have a 2.9-cm solid ovarian mass.

Metastatic Choriocarcinoma Masquerading as a Congenital Glabellar Hemangioma.

Infantile choriocarcinoma (ICC) is a rare, highly malignant form of gestational trophoblastic neoplasia. Rapid diagnosis and initiation of treatment are paramount in reaching a successful outcome. Patients with these tumors typically present with a triad of anemia, hepatomegaly, and precocious puberty.

Facial Nerve Meningioma: A Cause of Pediatric Facial Weakness.

Objective: To present an unusual case of a temporal bone meningioma with intrafascicular spread throughout the temporal facial nerve from cerebellopontine angle (CPA) to stylomastoid foramen.

Patient: Four-year-old female with progressive facial weakness and normal hearing.

Main Outcome Measure: Clinical, radiological, and histopathological findings of temporal bone meningiomas.

Back pain in Duchenne muscular dystrophy: steroids are not always the culprit.

We report on a child with Duchenne muscular dystrophy on prolonged corticosteroid treatment who presented with back pain and was subsequently found to have a monostotic fibrous dysplasia lesion of the spine. It is the intent of this case report to emphasize the need to maintain a high index of suspicion for other potential causes of back pain in Duchenne muscular dystrophy besides vertebral compression fractures.

Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature.

Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder caused by mutations in the SLC7A7 located on the chromosome 14q11.2. LPI is most prevalent in Finland (1:50,000), Northern Japan (1:60,000) and Italy.

Malignant Peritoneal Mesothelioma in an Adolescent Male With BAP1 Deletion.

Diffuse malignant peritoneal mesotheliomas in children are uncommon, aggressive tumors with a grave prognosis. We herein report the clinical, radiologic, and pathologic findings of a 16-year-old male. The adolescent presented with a history of abdominal pain, nausea and daily, nonbilious, nonbloody emesis for 3 weeks.

Ectomesenchymoma with embryonal rhabdomyosarcoma and ganglioneuroma, arising in association with benign triton tumor of the tongue.

Soft-tissue tumors known as "triton" tumors are rare lesions containing neural tissue and skeletal muscle at varying levels of maturity and malignant potential. Benign triton tumors, also called "neuromuscular choristomas" or "neuromuscular hamartomas," consist of neural tissue containing mature skeletal muscle in intimate relationship with peripheral nerve. These tumors are rare in the head and neck in children.

Detection of an atypical teratoid rhabdoid brain tumor gene deletion in circulating blood using next-generation sequencing.

Circulating biomarkers such as somatic chromosome mutations are novel diagnostic tools to detect cancer noninvasively. We describe focal deletions found in a patient with atypical teratoid rhabdoid tumor, a highly aggressive early childhood pediatric tumor. First, we used magnetic resonance imaging (MRI) and histopathology to study the tumor anatomy.

Successful treatment of recurrent pediatric inflammatory myofibroblastic tumor in a single patient with a novel chemotherapeutic regimen containing celecoxib.

Inflammatory myofibroblastic tumors are rare tumors characterized as low-to-intermediate grade sarcomas. This is a case of a 7-year-old male with a 5-cm lung mass, which recurred 11 months after complete resection. The recurrence manifested as multifocal metastatic disease involving the ipsilateral parietal and visceral pleura.

Early morphea mimicking acquired port-wine stain.

We report the case of a 2.5-year-old girl with linear morphea initially diagnosed as an acquired port-wine stain (PWS). She underwent three treatments to the right face using the pulsed dye laser (PDL) before sclerotic changes were observed and the correct diagnosis was confirmed with histopathology.

Case report: misdiagnosis of tailgut cyst presenting as recurrent perianal fistula with pelvic abscess.

Tailgut cysts are uncommon lesions that usually occur within the presacral space. The relative rarity and nonspecific complaints associated with these lesions often lead to misdiagnosis or unnecessary procedures before the correct diagnosis is made. We describe a case of a 16-year-old female who presented with pelvic pain.

Atypical presentation of Wilson disease.

A 15-year-old Caucasian female on human chorionic gonadotropin (HCG) diet presented with fever, cholestasis, coagulopathy, hemolytic anemia, and acute renal dysfunction. Imaging of the biliary system and liver were normal. She responded to intravenous antibiotics, vitamin K and blood transfusions but experienced relapse upon discontinuation of antibiotics.

Intestinal spirochetosis in children: five new cases and a 20-year review of the literature.

Intestinal spirochetosis (IS) is an unusual infection in children, one with no standard therapeutic options. This article reports the findings on 5 new cases in conjunction with a 20-year review of the pediatric literature. The diagnosis of IS in children requires a high degree of suspicion by the physician, as many cases present with abdominal pain, chronic diarrhea, and/or hematochezia associated with a normal endoscopic examination.

Tumor necrosis factor-like weak inducer of apoptosis stimulation of glioma cell survival is dependent on Akt2 function.

Malignant gliomas are the most common primary brain tumors. Despite intensive clinical investigation and significant technical advances in surgical and radiation treatment, the impact on clinical outcome for patients with malignant gliomas is disappointing. We have previously shown that tumor necrosis factor-like weak inducer of apoptosis (TWEAK), a member of the tumor necrosis factor superfamily, can stimulate glioma cell survival via binding to the Fn14 receptor, activation of the NF-kappaB pathway, and upregulation of BCL-X(L) gene expression.

The value of positron emission tomography and proliferation index in predicting progression in low-grade astrocytomas of childhood.

Astrocytomas are the most common brain tumors of childhood and adolescence. Low-grade astrocytomas (LGAs), in general, have favorable prognosis, but recurrence or progressive disease with dissemination, malignant transformation, and death occur in some cases. Current clinical and pathological measures including age, sex, imaging characteristics, location and size of the tumor, histopathology, and degree of resection cannot predict with certainty which tumors will demonstrate aggressive behavior.