Publications by authors named "Ruchi Amin"

Dormant human oocytes contain a perinuclear super-organelle, called the Balbiani Body, which is not present in mature oocytes. Here, we use confocal imaging to visualize two Balbiani Body markers-mitochondria and the DEAD-box helicase DDX4-in preantral follicles isolated from a 20-year-old female patient. In primordial follicles, mitochondria were concentrated in a ring near the oocyte nucleus, while DDX4 formed adjacent micron-scale spherical condensates.

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Background/purpose: This study evaluated compliance with a multi-institutional quality improvement management protocol for Type-C esophageal atresia with distal tracheoesophageal fistula (EA/TEF).

Methods: Compliance and outcomes before and after implementation of a perioperative protocol bundle for infants undergoing Type-C EA/TEF repair were compared across 11 children's hospitals from 1/2016-1/2019. Bundle components included elimination of prosthetic material between tracheal and esophageal suture lines during repair, not leaving a transanastomotic tube at the conclusion of repair (NO-TUBE), obtaining an esophagram by postoperative-day-5, and discontinuing prophylactic antibiotics 24 h postoperatively.

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Background: Perioperative care after appendectomy may be the first exposure to opioids for many children. A quality improvement project was implemented to assess current practice of prescribing pain medications after a laparoscopic appendectomy to decrease unnecessary opioid use via simple, targeted steps.

Methods: Three measures were implemented in patients undergoing laparoscopic appendectomy for acute appendicitis: (1) ice packs to incision in postanesthesia care unit, (2) standard pain scores within 30 minutes of admission to ward postoperatively, and (3) standardized postoperative order set minimizing opioid utilization and limited number of opioids prescribed at discharge.

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Background: Perioperative hypothermia has been shown to increase surgical site infection (SSI) rates in adults. We sought to characterize whether intraoperative hypothermia or hyperthermia is associated with postoperative infections in infants.

Methods: We conducted a retrospective review of patients ≤6 months old who underwent surgical procedures from November 2013 to October 2015 at a Level I ACS Children's Surgical Center.

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Background: Gastric antral webs are mucosal structures, varying from fenestrated diaphragms to mucosal crescents, resulting in varying degrees of foregut obstruction. Patients commonly present with vomiting, failure to thrive, and abdominal pain. Prevalence is unknown, and diagnosis can be difficult.

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Objective: This prospective observational study was designed to assess Pediatric Quality of Life (PedsQL) after surgical treatment for congenital diaphragmatic hernia (CDH), esophageal atresia/tracheoesophageal fistula (EA/TEF), Hirschsprung disease (HD), gastroschisis (GAS), omphalocele (OMP), and necrotizing enterocolitis (NEC).

Summary Of Background Data: Improvements in neonatal and surgical care have led to increased survival for many newborn conditions. Quality of life in these patients is seldom explored in a longitudinal manner.

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Background: The use of neurally adjusted ventilator assist (NAVA) in congenital diaphragmatic hernia (CDH) patients has been historically deemed unwise, since the trigger for breaths is the electromyographic activity of the diaphragmatic muscle. We report on our NAVA experience in CDH patients.

Methods: We performed an IRB-approved retrospective review of newborns from 1/1/2012-1/1/2017 at a Level I Children's Surgery Center undergoing CDH repair.

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Background: Gastroschisis is an abdominal wall defect with increasing incidence. Given the lack of surveillance guidelines among maternal-fetal medicine (MFM) specialists, this study describes current practices in gastroschisis management.

Materials And Methods: An online survey was administered to MFM specialists from institutions affiliated with the North American Fetal Therapy Network (NAFTNet).

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Ehlers-Danlos Syndrome refers to a spectrum of connective tissue disorders that have a variety of clinical manifestations. In this case, we present a spontaneous diaphragmatic rupture in a patient with type III Ehlers-Danlos Syndrome. The patient presented with worsening shortness of breath after failure of medical therapy for a presumed pneumonia.

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In soft tissue sarcomas (STS), low intratumoural O2 (hypoxia) is a poor prognostic indicator. HIF-1α mediates key transcriptional responses to hypoxia, and promotes STS metastasis; however, the role of the related HIF-2α protein is unknown. Surprisingly, here we show that HIF-2α inhibits high-grade STS cell growth in vivo, as loss of HIF-2α promotes sarcoma proliferation and increases calcium and mTORC1 signalling in undifferentiated pleomorphic sarcoma and dedifferentiated liposarcoma.

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Schwannomas of the thoracic cavity are typically an asymptomatic, benign neurogenic neoplasm of the posterior mediastinum. In this case, we present a traumatic hemothorax as the initial presentation for a previously undiscovered mediastinal mass. The patient presented with shortness of breath and right-sided chest pain after being struck in the chest with a soccer ball.

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Objective: Animal-assisted therapy (AAT), most frequently used with dogs, is being used increasingly as an adjunctive alternative treatment for psychiatric patients. AAT with larger animals, such as horses, may have unique benefits. In this randomized controlled study, equine and canine forms of AAT were compared with standard treatments for hospitalized psychiatric patients to determine AAT effects on violent behavior and related measures.

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Background: Call-Fleming syndrome, also known as reversible cerebral vasoconstriction syndrome, is an important cause of severe headache characterized by segmental constriction of cerebral arteries in multiple vascular distributions. It is commonly described in adults, with a female predominance.

Patient: We report a case of a 16-year-old girl with history of anxiety, attention deficit hyperactivity disorder, and migraines on several medications presenting with 2 weeks of worsening headaches.

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Parkinson's disease (PD) is the second most prevalent late-onset neurodegenerative disorder that affects nearly 1% of the global population aged 65 and older. Whereas palliative treatments are in use, the goal of blocking progression of motor and cognitive disability remains unfulfilled. A better understanding of the basic pathophysiological mechanisms underlying PD would help to advance that goal.

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