Himalayan Institute of Medical Sciences
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Item Role of point-of-care ultrasound in the management of congenital diaphragmatic palsy(PUBMED, 2025-06-27) Ravleen Kaur; Kanishka Bahuguna; Chinmay Chetan; Saikat PatraIn newborns, brachial plexus injury is the most common peripheral nerve injury during the delivery. It may also lead to phrenic nerve injury causing diaphragmatic palsy. Conservative management remains the mainstay of treatment for congenital diaphragmatic palsies. Surgical plication is a potential management strategy for the persistent cases, but the timing and outcomes are not clear. Here, we present a case where diaphragmatic palsy was diagnosed and monitored using point-of-care ultrasound. The surgical intervention was avoided by serial monitoring of diaphragmatic excursion on ultrasound, which revealed improvement despite persistent requirement of respiratory support.Item Novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in an Indian neonate with Joubert syndrome(BMJ Publishing Group, 2023-05-31) Saikat Patra; Garima Goyal; Yasir Ahmad Lone; Girish GuptaJoubert syndrome (JS) is a rare ciliopathy that presents with the triad of hypotonia, developmental delay and molar tooth sign (MTS) in brain MRI. Next-generation sequencing has identified about 35 genes which are known to cause JS of which CPLANE 1 mutation is found in 8%-10% of cases. We report a case of JS in an Indian neonate who presented with hypotonia, dysmorphic facies, polydactyly, syndactyly and occipital encephalocele. MRI of the brain revealed MTS, and compound heterozygous mutations in CPLANE 1 gene were detected by clinical exome sequencing, one of them a novel variant CPLANE 1: c.5051C>A (p.Ser1684Ter) in exon 26, which was inherited from the parents.