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Meconium ileus and pancreatic sufficiency with D1152H mutation: A case report and review of the literature [Case Report]

Lang, Emma; Kiernan, Bridget; Muise, Eleanor D; Giusti, Robert
Meconium ileus (MI) is one presenting manifestation of Cystic Fibrosis (CF), classically associated with class I-III CF transmembrane conductance regulator (CFTR) mutations and pancreatic insufficiency (PI). D1152H is a class IV mutation that corresponds with a milder CF phenotype and pancreatic sufficiency (PS). We present the case of an infant with G542X/D1152H mutations and MI who required surgical intervention with small bowel resection. The sweat testing was normal, and this child presently remains PS, however at age 5 continues to experience short gut syndrome and failure to thrive. Eight cases were identified in the CF Registry and seven cases in the literature describing patients with D1152H and echogenic bowel (EB) or MI. Our case highlights the importance of CFTR gene sequencing in infants with EB or MI and sweat testing not suggestive of CF. It is our practice to perform full CFTR gene sequencing for infants who present with MI, recognizing protocols for newborn screening across the United States vary. Increased awareness of D1152H association with PS may also well inform both prenatal and postnatal genetic counseling.
PMID: 37423798
ISSN: 1873-5010
CID: 5537332

Chronic Non-infectious Osteomyelitis Mimicking Scurvy as the Presenting Sign of Crohn's Disease: Case Report [Case Report]

Goldfarb, Alexa; Breitling, Stefan; Amadasun, Owen; Kiernan, Bridget; Gold-von Simson, Gabrielle; Sagalowsky, Selin T
Chronic non-infectious osteomyelitis (CNO) is a rare, inflammatory process associated with pediatric inflammatory bowel disease (IBD). Signs and symptoms of CNO parallel scurvy, a nutritional deficiency that can affect children with autism spectrum disorder (ASD). This is the first report of a child initially thought to have scurvy, then subsequently diagnosed with CNO as the presenting manifestation of Crohn's disease. This case enhances the literature elucidating extra-intestinal manifestations of IBD and pediatric nutritional deficiencies.
PMID: 35498788
ISSN: 2296-2360
CID: 5203372

Pancreatic solid pseudopapillary tumor size and location predict length of stay [Meeting Abstract]

Wood, P; Sanchez, L; Brownell, J; Laje, P; Kiernan, B; MacFarland, S; Maqbool, A
Background: Solid pseudopapillary neoplasms of the pancreas (SPN) account for 1-3% of pancreatic tumors and 70% of pediatric pancreatic neoplasms. SPN is often characterized by its low malignant potential and female predominance. Complete surgical resection remains the standard treatment for SPN, providing excellent prognosis without the need for additional adjuvant therapy. Extant literature includes institutional experiences with consistent reports of SPN characteristics; however few studies have examined the relationship between these SPN characteristics and length of stay (LOS). We report a single pediatric center's management of SPN, as well as the effect of tumor size, location, and SPN resection type on LOS over a 20-year period.
Aim(s): To describe the management and outcomes of SPN at a single pediatric institution over a 20-year period. A secondary aim was to examine the effect of tumor size, location, and resection type on length of stay.
Method(s): This was a retrospective cohort study of adolescents with SPN at Children's Hospital of Philadelphia over a 20-year period (2001-2021). Patients were grouped by LOS and other clinical factors, and unpaired t-tests or single-factor ANOVA were used to determine differences between group's median.
Result(s): A total of 22 adolescents were included in the study, 20 female (90.9%) and two male. The average age at presentation and resection was 15.9 years (10.8-19.8). All 22 patients were symptomatic upon presentation, reporting abdominal pain, vomiting, diarrhea, weight loss, or abdominal firmness. The most common tumor locations were the pancreatic head (40.9%) and tail (40.9%). Sixteen (72.7%) patients underwent a partial pancreatectomy, five (22.7%) underwent pancreaticoduodenectomy, and one (4.5%) underwent a lateral pancreaticojejunostomy (Puestow). No patients received adjuvant therapy and the average LOS following resection was 10 days (3-32). When comparing LOS to tumor size, there was a statistically significant difference between the size of tumors in patients whose LOS was less than 7 days (5.7 cm +/- 1.8) and greater than 7 days (7.7 cm +/- 2.2, p = 0.032). Additionally, there was a statistically significant difference between LOS in patients who underwent partial pancreatectomy (8.4 days +/- 7.2) and patients who underwent pancreaticoduodenectomy (16.4 days +/- 1.1, p = 0.026). There was a statistically significant difference when comparing LOS between patients whose tumor location was in the head (15.5 days +/- 8.1), tail (6.1 days +/- 2.1), body and tail (7.0 days +/- 4.6), and body (5.0, p = 0.014). Additional factors of interest are reported in Table 1.
Conclusion(s): LOS after SPN resection is related to tumor size, tumor location, and surgical approach. Tumor size and location should be considered when counseling patients on prognosis and surgical outcome
ISSN: 1536-4801
CID: 5084332

Medical Management of Chronic Pancreatitis in Children: A Position Paper by the NASPGHAN Pancreas Committee

Freeman, A Jay; Maqbool, Asim; Bellin, Melena D; Goldschneider, Kenneth R; Grover, Amit S; Hartzell, Cheryl; Piester, Travis L; Szabo, Flora; Kiernan, Bridget Dowd; Khalaf, Racha; Kumar, Rakesh; Rios, Mirta; Husain, Sohail Z; Morinville, Veronique D; Abu-El-Haija, Maisam
This position paper summarizes the current understanding of the medical management of chronic pancreatitis (CP) in children in light of the existing medical literature, incorporating recent advances in understanding of nutritional, pain, lifestyle considerations and sequelae of CP. This article complements and is intended to integrate with parallel position papers on endoscopic and surgical aspects of CP in children. Concepts and controversies related to pancreatic enzyme replacement therapy (PERT), the use of antioxidants and other CP medical therapies are also reviewed. Highlights include inclusion of tools for medical decision making for PERT, CP-related diabetes, and multimodal pain management (including an analgesia ladder). Gaps in our understanding of CP in children and avenues for further investigations are also reviewed.
PMID: 33230082
ISSN: 1536-4801
CID: 4680472

Anti-tumor Necrosis Factor-alpha Exposure Impacts Vedolizumab Mucosal Healing Rates in Pediatric Inflammatory Bowel Disease

Jossen, Jacqueline; Kiernan, Bridget D; Pittman, Nanci; Dubinsky, Marla C
BACKGROUND:Vedolizumab (VDZ) is effective for treating both adult and pediatric onset inflammatory bowel disease (IBD). Clinical outcomes, however, have been reported to be superior in patients naïve to anti-tumor necrosis factor (TNF). With the growing interest in endoscopic endpoints, we aimed to describe rates of mucosal healing in pediatric patients being treated with VDZ and examine the influence of anti-TNF on outcomes. METHODS:We conducted a retrospective review of all IBD patients ≤21 years of age who initiated VDZ and underwent endoscopy. Primary outcome was mucosal healing (composite of endoscopic [SES-CD] and Mayo score UC) and histological remission [Nancy index-UC and Crohn disease (CD) histologic activity]. Descriptive statistics summarized the data. Comparisons were made for endpoints based on anti-TNF exposure using univariate testing. RESULTS:Sixty-eight patients were included in the final analysis; 35 with UC and 33 with CD. Thirty-two patients (22 UC and 10 CD) were anti-TNF-naïve and 36 patients (13 UC and 23 CD) were anti-TNF-exposed. The median duration on VDZ before endoscopic assessment was 49 (IQR 32-73) weeks. A total of 38% (25/66) of patients met the primary outcome of mucosal healing and did not differ between anti-TNF-naïve or anti-TNF-exposed. Endoscopic remission was achieved by 51% with significantly more anti-TNF naïve patients reaching this endpoint (66% vs 40%, P = 0.03). Histologic remission was achieved by 42% of patients with a nonsignificant trend towards improved histologic remission rates in anti-TNF-naïve patients (52% vs 33%, P = 0.13). CONCLUSIONS:VDZ is associated with mucosal healing in pediatric IBD. Anti-TNF exposure significantly impacted endoscopic remission, but not histologic remission in children on VDZ.
PMID: 31738290
ISSN: 1536-4801
CID: 4554512

Conserved cysteine residues within the attachment G glycoprotein of respiratory syncytial virus play a critical role in the enhancement of cytotoxic T-lymphocyte responses

Melendi, Guillermina A; Bridget, Dowd; Monsalvo, Ana C; Laham, Federico F; Acosta, Patricio; Delgado, Maria Florencia; Polack, Fernando P; Irusta, Pablo M
The cytotoxic T-lymphocyte (CTL) response plays an important role in the control of respiratory syncytial virus (RSV) replication and the establishment of a Th1-CD4+ T cell response against the virus. Despite lacking Major Histocompatibility Complex I (MHC I)-restricted epitopes, the attachment G glycoprotein of RSV enhances CTL activity toward other RSV antigens, and this effect depends on its conserved central region. Here, we report that RSV-G can also improve CTL activity toward antigens from unrelated pathogens such as influenza, and that a mutant form of RSV-G lacking four conserved cysteine residues at positions 173, 176, 182, and 186 fails to enhance CTL responses. Our results indicate that these conserved residues are essential for the wide-spectrum pro-CTL activity displayed by the protein.
PMID: 21053062
ISSN: 1572-994x
CID: 4554522