ABSTRACT
BACKGROUND: New York (NY) State implemented a new cystic fibrosis (CF) newborn screen (NBS) algorithm in December 2017 with improvement in positive predictive value and unanticipated increased identification of infants with cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS). Repeat sweat testing is recommended in infants with CRMS. During the COVID-19 pandemic infants with CRMS were lost to follow up. With this quality improvement (QI) initiative, we aimed to perform repeat sweat testing in 25% of infants lost to follow up. We also describe consensus recommendations for CRMS from the NY CF NBS Consortium. METHODS: Our QI team identified the primary drivers contributing to absent follow up, outreached to families, and created a questionnaire to evaluate parental understanding of CRMS using QI-based strategies. RESULTS: Of 350 infants diagnosed with CRMS during the study period, 179 (51.1%) infants were lost to follow up. A total of 31 (17.3%) were scheduled for repeat sweat tests and followed up at CF Centers. Families reported high satisfaction with the CRMS knowledge questionnaire. CONCLUSIONS: With this QI-based approach, we effectively recaptured infants with CRMS previously lost to follow up during the COVID-19 pandemic. Ongoing concerns about infection risk and lack of understanding on the part of families and pediatricians likely contributed to patients with CRMS lost to follow up. Consensus recommendations for CRMS include annual visits with repeat sweat testing until 2-6 years of age and education for adolescents about clinical and reproductive implications of CRMS.
ABSTRACT
The pancreas develops from a small ventral bud and a larger dorsal bud. During the rotation of the foregut, the ventral pancreas rotates toward the dorsal pancreas and joins together to form a complete pancreas with ducts. Among the various developmental congenital anomalies, dorsal pancreatic agenesis is one of the rare entities, with less than a hundred cases reported so far. It involves the absence of the dorsal bud derivatives (head, body, and tail). Case presentation: Herein, we present a case of a 50-year-old woman who presented to general outpatient department with a complaint of abdominal pain. The patient was diagnosed with cholelithiasis with a contrast-enhanced computed tomography finding of dorsal pancreatic agenesis on a detailed workup. However, the patient did not have any other associated anomalies or symptoms associated with dorsal pancreatic agenesis. The patient was managed for cholelithiasis with laparoscopic cholecystectomy. Clinical discussion: Failure in development due to aberrant embryogenesis may cause partial or complete agenesis of the dorsal pancreas. The minor papilla, the accessory pancreatic duct, the body, and the tail of the pancreas are not present in the case of complete dorsal agenesis. Most cases of dorsal pancreatic agenesis are asymptomatic and diagnosed incidentally, whereas some of the cases may present with other associated abnormalities. It is almost always diagnosed via imaging modalities. Conclusion: Dorsal pancreatic agenesis is a very rare congenital anomaly of the pancreas. It can be diagnosed via various imaging modalities and almost always remains a radiological diagnosis with incidental findings.
ABSTRACT
Monochorionic twinning contributes significantly to neonatal morbidity and mortality. The twin-twin transfusion syndrome complicates 5-35% of monozygotic twin pregnancies with monochorionic placentation. The most severe and a rare manifestation of this condition is acardiac twinning which is seen in 1 in 35,000 pregnancies. The acronym TRAP (Twin Reversed Arterial Perfusion) sequence is used to describe this condition. The acardiac twin does not survive while the mortality for the normal twin is about 50%. Proper timing of the delivery is of prime importance to survival of the normal fetus for which emphasis is placed on close sonographic monitoring for early antenatal diagnosis. We present such a case of TRAP sequence because of its rarity.
