Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.

Silver-Russell syndrome (SRS) is a rare genetic condition primarily characterized by growth restriction and facial dysmorphisms. While hypomethylation of H19/IGF2:IG-DMR (imprinting control region 1 [IC1]) located at 11p15.5 and maternal uniparental disomy of chromosome 7 (upd[7]mat) are the most common genetic mechanisms responsible for SRS, the expanding body of literature describing alternative causative variants suggests SRS is a highly heterogeneous condition, also involving variation in the HMGA2-PLAG1-IGF2 pathway. We report a familial PLAG1 deletion in association with a complex chromosomal rearrangement. We describe two siblings with differing unbalanced chromosomal rearrangements inherited from a mother with a 5-breakpoint balanced complex rearrangement involving chromosomes 2, 8, and 21. The overlapping but diverse phenotypes in the siblings were characterized by shared SRS-like features, underlined by a PLAG1 whole gene deletion. Genetic analysis and interpretation was further complicated by a meiotic recombination event occurring in one of the siblings. This family adds to the limited literature available on PLAG1-related SRS. We have reviewed all currently known cases aiming to define the associated phenotype and guide future genetic testing strategies. The heterogeneity of SRS is further expanded by the involvement of complex cytogenomic abnormalities, imposing requirements for a comprehensive approach to testing and genetic counseling.

Using an under-utilised rural hospital to reduce surgical waiting lists.

Objectives This study aimed to evaluate patient outcomes from a 12-month pilot program establishing specialist surgical services in a small rural (Modified Monash Model, MM4) hospital on the south coast of NSW. Methods Suitable patients for ambulatory surgery were selected based on strict anaesthetic, surgical and social criteria. Skills shortfalls among nursing staff, usually with emergency or inpatient experience, were addressed by appropriate re-training and in-service training in scrub, scout and anaesthetic duties. An anonymous post-operative patient survey was administered during the pilot program, which assessed patient experiences and outcomes. Of 162 patients undergoing surgery during the pilot, 50 consecutive participants completed the survey. Results Of the 161 procedures during the pilot program, 100 were performed under sedation and locoregional anaesthesia and 62 under general anaesthesia. Half (n = 86, 53.4%) were complex excisions of malignant skin lesions, and of these 63% also required either a skin graft or local flap repair. Survey respondents reported adequate information and pain relief upon discharge (n = 45, 96%) and 100% were satisfied with the care received. No respondents needed to see a doctor following discharge. There were no mortality events or major issues of morbidity during the study period or subsequently, no further overnight admissions or return to theatre and no re-presentations within 48 h of operating. Two superficial surgical site infections were reported. Conclusions There is merit in drawing on underutilised resources in small rural hospitals in support of initiatives to reduce surgical waitlists. Appropriate outpatient surgeries can be safely performed with high levels of patient satisfaction.

Chronic sigmoid diverticulitis causing tubo-ovarian abscess and colo-uterine fistula.

Colo-uterine fistulas are rarely reported in the literature, and its presentation in the presence of a tubo-ovarian abscess secondary to chronic sigmoid diverticulitis is currently not reported. As such, its presentation may pose a diagnostic dilemma. Here, we present a 68-year-old woman who was admitted under the colorectal service with a 1 month history of mild left iliac fossa pain, with computed tomography (CT) demonstrating complicated sigmoid diverticulitis. Progress CTs, however, demonstrated a progressively enlarging left iliac fossa mass, with air fluid levels, densely adherent to the sigmoid colon. The decision was eventually made to perform a laparoscopy, which demonstrated a left tubo-ovarian abscess communicating with the uterus and sigmoid colon, illustrating a colo-uterine fistula. Open resection of the sigmoid colon and uterus was performed and the patient recovered uneventfully. This case describes an uncommon complication of chronic sigmoid diverticulitis and the importance of its judicious surgical management.