Background Insulin-like 3 hormone (INSL3) is involved in the process of testicular descent, and has been thoroughly studied in cryptorchidism. However, INSL3 allelic variations found in the human genome were heterozygous and only a few of them were found exclusively in patients with cryptorchidism. Under this perspective, we aimed to study the presence of INSL3 allelic variations in a cohort of patients with cryptorchidism and to estimate their potential consequences. Methods Blood samples were collected from 46 male patients with non-syndromic cryptorchidism and from 43 age-matched controls. DNA extraction and polymerase chain reaction (PCR) were performed for exons 1 and 2 of the INSL3 gene in all subjects. Sequencing analysis was carried out on the PCR products. All data were grouped according to testicular location. Results Seven variations of a single nucleotide (SNVs) were identified both in patients with cryptorchidism and in controls: rs2286663 (c.27G > A), rs1047233 (c.126A > G) and rs6523 (c.178A > G) at exon 1, rs74531687 (c.191-30C > T) at the intron, rs121912556 (c.305G > A) at exon 2 and rs17750642 (c.*101C > A) and rs1003887 (c.*263G > A) at the untranslated region (UTR). The allelic variants rs74531687 and rs121912556 were found for the first time in the Greek population. The novel homozygotic combination of the three allelic variants rs1047233-rs6523-rs1003887 seemed to present a stronger correlation with more severe forms of cryptorchidism. Conclusions The combination of specific INSL3 SNVs rather than the existence of each one of them alone may offer a new insight into the involvement of allelic variants in phenotypic variability and severity.
Background Although surgical drains are widely used after lower gastrointestinal (GI) procedures, complications may occur. Specifically, sporadic cases of drain migration into a hollow viscus, most commonly regarding active drains and treated with surgical removal, have been reported. Herein, we present a case of a passive drain (penrose) migration into the colon, after segmental sigmoidectomy with primary anastomosis, presented with hematochezia. Methods A 37-year-old male patient suffering from colovesical fistula, due to sigmoid diverticulitis, underwent resection of the fistula, the involved sigmoid segment and the bladder opening, followed by primary anastomosis of the colon and primary closure of the bladder. A penrose catheter was positioned near the anastomosis. Results On 8th postoperative day (POD) the patient had three episodes of hematochezia and blood in the drain collection bag, followed by relative improvement. On 15th POD gas was observed on the drain's collection bag and a new episode of hematochezia led him to sigmoidoscopy. The endoscopy revealed the presence of the penrose drain intraluminally, protruding via an ulcer at the level of the anastomosis. The penrose repositioned outside the lumen and metallic clips were used to approximate the defect. The patient was then fully recovered, discharged, and the drain removed on follow-up. Conclusion To our knowledge this is the first report of drain migration presented with hematochezia, after lower GI surgery, avoided reoperation, and resolved with removal of the drain under direct endoscopic vision.
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