The treatment options in clinical stage I nonseminomatous germ cell tumor (NSGCT) of testis are either surveillance, chemotherapy or retroperitoneal lymph node dissection (RPLND). While open RPLND still serves as the gold standard, laparoscopic and robot assisted laparoscopic approaches are gaining popularity. In this report, we share our experience and technique of robot assisted laparoscopic RPLND in a patient with clinical stage Ib NSGCT of testis.
Some of the patients with genitourinary tuberculosis (GUTB) present to the urologist with small contracted bladders or with significant renal damage.[1] Additional reconstructive procedures are often required along with anti-tubercular treatment in these patients. These procedures commonly performed via the open approach, now have the advantage of minimally invasive approach provided by laparoscopic and robotic surgery. The technique of robot-assisted laparoscopic augmentation ileocystoplasty in a patient with a small contracted bladder due to GUTB will be described. The procedure was performed via a completely intra-corporeal technique using an ileal “cap” created from a 15 cm segment of distal ileum which was anastomosed to the urinary bladder bi-valved in the mid-sagittal plane. The procedure lasted for 420 minutes and the patient was discharged on postoperative day 5. At 6 month follow-up, the patient has no irritative urinary symptoms and voiding with insignificant post-void residual urine.
Mitochondrial fission factor (MFF) gene mutations are rare mitochondrial fission disorders, resulting in autosomal recessive neurological disorders. We here report a rare case of MFF gene mutation running in a family which ultimately turned out to be a variant of unknown significance. A 29-year-old multigravida visited at 18-week gestation for prenatal genetic testing as her previous baby had cerebral palsy and global developmental delay. The exome sequencing of the affected baby revealed defective mitochondrial and peroxisomal fission 2 (AR-617086). On Sanger sequencing, the mother was homozygous and the father heterozygous for the same variant. In the current pregnancy, amniocentesis was done and the fetus was also homozygous for a similar mutation. The couple continued the pregnancy and delivered a healthy baby who had normal milestones at 11 months of age. As far as prenatal diagnostic testing is considered, our case is a real-world scenario, where patient expectations befuddle appropriate decision-making.
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