Hazardous hyperbilirubinemia in a neonate with novel homozygous biallelic GSR (glutathione reductase) mutations

Robert D Christensen*; Peter H Grubb; Hassan M Yaish

    A six-day-old term male presented to our hospital emergency department with a total serum bilirubin (TSB) of 34.8 mg/dL. Double volume exchange transfusion resulted in a fall to 20.6 mg/dL, and intensive phototherapy resulted in a gradual further fall to 5.4 mg/dL by discharge home eight days later. This was the first child of a consanguineous couple from Southern India, with no family history of anemia or jaundice. Extensive evaluation for the etiology of the hyperbilirubinemia revealed homozygous biallelic mutations in GSR, the gene encoding Glutathione Reductase and the heterozygous polymorphism UGT1A1*28....

Examining the association of right ventricular dysfunction with moderate to severe bronchopulmonary dysplasia in preterm infants

Wisam Muhsen

    Over the last three-and-a-half decades, many advances have been made in the care of preterm infants. Some of the most important developments have been in hemodynamic management, including the use of functional echocardiography exams. The Right Ventricle (RV) functional assessment has enabled investigators to track cardiac maturational changes in the first few months of life of Very and Extremely Preterm Infants (VEPIs)...

Prevalence of anti-cyclic citrullinated peptide antibodies in juvenile idiopathic arthritis in Benin

Zomalheto Zavier; Assogba Michee; Zannou Vanessa; Zohoun Lutecia

    Introduction: The diagnosis of Juvenile Idiopathic Arthritis (JIA) is difficult in sub-Saharan countries due to the complexity and polymorphism of the disease. JIA can be accompanied by the presence of Anti-Cyclic Citrullinated Peptide Antibodies (ACPA). This work aims to determine the prevalence of ACPA among children suffering from juvenile idiopathic arthritis in Benin....

Neuromyelitis optica spectrum disorder with spinal involvement including conus medullaris lesions with anti-aquaporin-4 antibody: A pediatric case and literature review

Rania BEN AOUN; Hanene Benrhouma; Hedia Klaa; Thouraya Ben Younes*; Cyrine Drissi; Aida Rouissi; Melika Ben Ahmed; Ichraf Kraoua; Ilhem Ben Youssef-Turki

    Introduction: Neuromyelitis Optica Spectrum Disorder (NMOSD) is an inflammatory disease of the central nervous system, generally associated with Anti-Aquaporin-4 (AQP4) antibody. It is characterized by severe attacks of optic Neuritis (ON) and Longitudinally Extensive Transverse Myelitis (LETM). Classically, it tends to spare the conus medullaris...

Gastrointestinal induced behavioral disturbances in children with autism spectrum disorder

Holly Hunter*; Ashley Dumas; Dianna Esmaeilpour; Nihit Kumar

    I present an 11-year-old Caucasian male with a past history of Autism Spectrum Disorder and chronic constipation with overflow incontinence admitted to an inpatient psychiatric unit for worsening agitation. This case describes a correlation between effective constipation management and subsequent reduction in agitation. According to current literature review, no similar pediatric case has described this relationship in clinical practice.

The use of ketamine to treat neonatal refractory status epilepticus in a resource limited setting

B Jason Brotherton, MD, MS*; Arthur Partikian, MD

    Seizures occur in the neonatal period more than any other time in human life. Status Epilepticus (SE), although poorly defined for neonates, is a seizure lasting more than 30 minutes, or multiple distinct episodes of seizure without a return to neurologic baseline within a 30-minute timeframe. Refractory Status Epilepticus (RSE) is the persistence of seizure activity despite administration of first and second line Antiepileptic Drugs (AED)...

Revisiting acute myocarditis in children to save lives

Évelin Carvalho Carneiro; Nathalie JM Bravo-Valenzuela*; José Valdez de Moura Castro

    Background: A case of sudden unexpected death of an 11-year-old child with tonsillitis illustrates acute myocarditis and the difficulty in diagnosing it...

Unusual presentation of a choledochal cyst

Niloy Ghosh BS; Jason Nirgiotis, MD; Janet Meller, MD*

    Choledochal cysts are a rare phenomenon, with the incidence in western countries estimated to be between 1:100,000 to 1:150,000 births [1]. However, the incidence may be higher in other countries, with some reports suggesting up to 1:1000 [2]. They are more common in females, with a ratio of 3:1 or 4:1 [3,4]. Due to their congenital predominance, most choledochal cysts have been diagnosed in the pediatric population [5]. Their pathogenesis remains unclear, although recent studies suggest that an abnormal pancreaticobiliary junction (ABPJ) may play a role [6]. Choledochal cysts ...

Clinical study and analysis of 700 cases of pneumonia in children

Hui Wen; Fang Qu*; Lei Sun; Yajie Lei; Rui Wang

    Pneumonia is a common acute disease of the respiratory tract in childhood. In this paper, 700 cases of pneumonia in Changan Hospital of Xi'an city were summarized. All seasons are easy to occur, especially in winter and spring. It is easy to recurrent attacks affect the growth and development of children, if the treatment is not complete. The clinical data of the children are reported as follows...

A rare case of splenic torsion in an infant

Winston Wu*; George Wadie; Jonathan Ho; Olly C Duckett; Samy Saad

    A 5-month old male presented to the emergency room with fussiness, emesis and fever. An abdominal CT showed a diffusely hypo attenuated spleen concerning for splenic liquefaction, and a Doppler US confirmed no detectable splenic blood flow. At laparotomy, a wandering spleen was identified with 720 degrees of torsion, and he then underwent a splenectomy. This case emphasizes the importance of considering splenic torsion on the differential for pediatric abdominal pain.

The tale of two omphaloceles: Same treatment, different outcomes

Christina Kamm, NNP; Courtney D Grassham, NNP; Jennifer Rael, MD; Janell Fuller, MD; Jessie R Maxwell, MD*

    Omphaloceles are one of the most common abdominal wall defects, and unfortunately multiple long-term medical problems can occur as a result. Specifically, other structural and chromosomal abnormalities may be present in the setting of an omphalocele. Treatment options vary depending on the size of the defect, with a common option being the "paint and wait" technique, in which a topical agent is applied that allows epithelialization over the amnion sac. Here, we discuss two such cases of omphalocele, and although both received the same treatment, very different outcomes occurred.

Pre-School wheezing treatment

Laura Petrarca; Antonella Frassanito; Fabio Midulla; Raffaella Nenna*

    A wheeze is a continuous, musical, high-pitched, expiratory sound, heard on chest auscultation as a result of airways narrowing and subsequent airflow limitation [1].

Parents hardly are able to report correctly a child's wheezing, since often they can't distinguish it from a heavy breathing or a whistling and sometimes consider it as the same as cough. This is the reason why both GINA guidelines and in the ERS task force report state that a clinician or a health professional should assess a wheezing diagnosis [1,2].

Influenza vaccination- A brief review of CDC advisory committee on immunization practices (ACIP) recommendations

Ashlesha Kaushik

    Influenza is one of the most important vaccine preventable infections and influenza disease and vaccination are one of the most frequent challenges faced by clinicians. According to the Centers for Disease Control and prevention (CDC) and American Academy of Pediatrics (AAP), influenza activity is presently increasing in the United States and there have already been eight pediatric deaths due to influenza this season, hence there is need to heighten awareness to immunize against influenza.

Improving compliance with AAP recommendations: Sedation for non-emergent neonatal intubations

Bridget K Cunningham

    In 2010, the American Academy of Pediatrics (AAP) published guidance that premedication should be used for all new born intubations except emergent events. We aimed to use a multi disciplinary approach to improve Walter Reed National Military Medical Center Neonatal Intensive Care Unit (WRNMMC NICU) compliance for nonemergent intubations to greater than 80% by May 1, 2014.

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