A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris.

Coexistence of TGM1 and FLG mutations in a newborn with congenital ichthyosis is not well described in the literature. Early genetic testing and counseling are crucial for accurate diagnosis and appropriate management. Further exploration of associated problems, including hearing loss and developmental delay, is warranted in patients with these mutations.

Necrotizing enterocolitis following treatment of congenital syphilis with penicillin in a term newborn.

Necrotizing enterocolitis is a disease process of intestinal disruption which has been associated with gastrointestinal microbial alterations after antibiotic exposure. Treatment guidelines and antibiotic exposure for congenital syphilis have historically been based on limited evidence. This case presents a term infant who developed necrotizing enterocolitis after treatment for congenital syphilis.

Echogenic Bowel as an Indicator of Necrotizing Enterocolitis in a Term Newborn.

A 3.5-kilogram infant was born at 40 weeks gestation with an uncomplicated delivery. Prenatal ultrasounds showed echogenic bowel and a ventricular septal defect (VSD), of no clinical significance.

A Case of Consanguinity.

A newborn of unknown gestational age and unknown chronological age was admitted to the neonatal intensive care unit after presenting to the emergency department for evaluation and concern for neglect. The infant was found at home by authorities with no adult caretaker. As part of routine newborn care, this infant was noted to have an abnormal newborn metabolic screen.

A Unique Presentation of Amniotic Band Syndrome: A Newborn With a Tail.

A 1-day-old late preterm, small-for-gestational-age female presented with a caudal appendage-a rare finding-and abnormalities in all 4 limbs most consistent with amniotic band syndrome. The caudal appendage was lateral to midline, measured 3 cm × 0.5 cm, and had no bony abnormalities or spinal cord tethering.

Therapies for Long COVID in non-hospitalised individuals: from symptoms, patient-reported outcomes and immunology to targeted therapies (The TLC Study).

Introduction: Individuals with COVID-19 frequently experience symptoms and impaired quality of life beyond 4-12 weeks, commonly referred to as Long COVID. Whether Long COVID is one or several distinct syndromes is unknown. Establishing the evidence base for appropriate therapies is needed.