Telomeres inhibit DNA damage response at the ends of the chromosome to suppress cell cycle arrest as well as ensure genome stability. Dyskeratosis congenita (DC), a telomere-related disease, includes the classical triad involving oral leukoplakia, dysplastic nails, and lacy reticular pigment in the neck and/or upper chest. Hoyeraal-Hreidarrson syndrome (HHS), a severe manifestation of DC, frequently occurs during childhood, and patients with HHS often show short-term survival and thus do not exhibit all mucocutaneous manifestations or syndromic features.
We report here a patient with HHS characterized by the proband`s clinical attributes, such as growth delay, bone marrow failure, microcephaly, defects in body development, and the absence of cerebellar hypoplasia combined with Blake`s pouch cyst. By using exome sequencing, novel compound heterozygous mutations (c.1451C > T and c.1266+3del78bp) were detected in the RTEL1 (regulator of telomere elongation helicase 1) gene.
The DNA helicase RTEL1 plays a role in genome stability, DNA replication, telomere maintenance, and genome repair. Terminal restriction fragment length analysis revealed a significantly shorter telomere length of the proband. Our findings provided evidence that compound heterozygous RTEL1 mutations cause HHS.

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Blake\'s pouch cyst is a congenital disease in which the ventricle enlargement is a non-communicating hydrocephalus. Some elderly patients have a process of the idiopathic normal pressure hydrocephalus (communicating hydrocephalus). We report an elderly patient with Blake\'s pouch cyst. A 68-year-old man visited our hospital with a gait disturbance that had begun 2 years previously but had become aggravated. He did not have dementia or urinary disturbance. CT scan and MRI showed the hydrocephalus included an IV ventricle, and the cerebrocerebellar fluid space in the posterior fossa was large. A Tap test was positive, so we attempted lumboperitoneal shunt, and his gait disturbance improved.

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In this case series, 6 patients with chronic pouchitis (n = 3), cuffitis (n = 2), or Crohn’s-like disease of the pouch (n = 1) were treated with tofacitinib. One patient achieved clinical response; however, all patients ultimately discontinued therapy due to nonresponse or adverse events.

Familial adenomatous polyposis (FAP) with protein-losing enteropathy is a rare disorder and is difficult to treat medically. A 74-year-old female patient was referred to our hospital with a chief complaint of anorexia. Lower gastrointestinal endoscopy showed multiple adenomas from the ascending colon to the rectum and adenocarcinoma in the sigmoid colon and descending colon. Laboratory findings showed hypoalbuminemia (albumin 1.6 mg/dl). Protein leak scintigraphy using 99mTc-HSAD found a protein leak from the colon. Although hypercaloric infusion was administered, the nutritional status was not improved and albumin transfusion was required. The patient underwent laparoscopic total proctocolectomy, ileal pouch-anal anastomosis, and temporary ileostomy. She had a good postoperative course and the hypoalbuminemia normalized in a few weeks. The patient underwent temporary ileostomy reversal. Here we report a case of FAP with protein-losing enteropathy who underwent laparoscopic total proctocolectomy, which resulted in improvement of the protein leak as well as cancer treatment.

BACKGROUND: Inflammation of the rectal remnant may affect the postoperative outcome of ileal pouch-anal anastomosis (IPAA) in patients with ulcerative colitis (UC). We aimed to determine the extent of inflammation in the anastomotic area during IPAA and to investigate the impact of proctitis on postoperative complications and long-term outcomes.
METHODS: Three hundred thirty-four UC patients with primary IPAA were included in this retrospective case-control study. The histopathologic degree of inflammation in the anastomotic area was graded into three stages of no proctitis (\"NOP\"), mild to medium proctitis (\"MIP\"), and severe proctitis (\"SEP\"). Preoperative risk factors, 30-day morbidity, and follow-up data were assessed. Kaplan-Meier analysis was performed in the event of pouch failure.
RESULTS: The prevalence of proctitis was high (MIP 40.4%, and SEP 42.8%). During follow-up, the incidence of complications was highest among SEP: resulting in re-intervention (n = 40; 28.2%, p = 0.017), pouchitis (n = 36; 25.2%, p < 0.01), and pouch failure (n = 32; 22.4%, p = 0.032). The time interval to pouch failure was 5.0 (4.0-6.9) years among NOP, and 1.2 (0.5-2.3) years in SEP (p = 0.036). ASA 3, pouchitis, and pouch fistula were independent risk factors for pouch failure.
CONCLUSIONS: Proctitis at the time of IPAA is common. A high degree of inflammation is associated with poor long-term outcomes, an effect that declines over time. In addition, a higher degree of proctitis leads to earlier pouch failure.

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The patient was 70-years-old women, 27 years ago, she was diagnosed with total colitis-type ulcerative colitis. Eighteen years after the diagnosis, she self-suspended his hospital visit because her condition was stable. After 4 years, ulcerative colitis rekindled, she resumed taking a 5-ASA. And 2 years later, colonoscopy revealed type 3 tumor in the descending colon. Tumor biopsy indicated an adenocarcinoma(tub1, tub2)derived from ulcerative colitis. Originally total proctocolectomy is necessary, but patient strongly hoped to leave the colon. We performed laparoscopic left hemicolonectomy(D2, SST). The pathological diagnosis was pT3, pN2, pM0, pStage Ⅲc. After the operation, chemotherapy(mFOLFOX6)was carried out for 6 months. We regularly checked tumor markers and followed up with a colonoscopy once every 6 months. But 3 years and 9 months after surgery, ulcerative colitis rekindled and adenocarcinoma in the transverse colon found by colonoscopy. We performed total proctocolectomy with ileal J-pouch anal-canal anastomosis. Four months after the second operation, advanced defecation disorder has not been observed.