[Rectal Cancer - Robotic Setup, Port Placement, Structured Surgical Steps]. / Rektumkarzinom ­ Robotic Setup, Port Placement, strukturierte OP-Schritte.

Robotic low anterior resection in rectal carcinoma is becoming increasing common in Europe. There may be oncological and functional advantages as compared to laparoscopic approaches. The new generation of surgical robots, such as the Da Vinci Xi systems from Intuitive, enlarges the range of robotic access, especially in the mobilisation of the left flexure. Thus, robotic low anterior resection can now be performed safely, with low morbidity and without hybrid support. In this paper, the setup of the robotic system, port placement and surgical steps of robotic low anterior rectal resection are explained. Special features of Da Vinci Xi- and -X-systems are emphasised. Potential advantages of the robotic access - such as 3-dimensional visualisation of the surgical field, wrist-like movements of instruments and increased precision - may provide better results in rectal surgery than with laparoscopic access. Nevertheless, the evidence is still too weak to recommend robotic low anterior resection as the standard procedure in rectal cancer.

46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.

BACKGROUND: 46,XY disorders of sex development (DSD) comprise a heterogeneous group of congenital conditions. Mutations in a variety of genes can affect gonadal development or androgen biosynthesis/action and thereby influence the development of the internal and external genital organs. OBJECTIVE: The objective of the study was to identify the genetic cause in two 46,XY sisters of a consanguineous family with DSD and gonadal tumor formation. METHODS: We used a next-generation sequencing approach by exome sequencing. Electrophysiological and high-resolution ultrasound examination of peripheral nerves as well as histopathological examination of the gonads were performed. RESULTS: We identified a novel homozygous R124Q mutation in the desert hedgehog gene (DHH), which alters a conserved residue among the three mammalian Hedgehog ligands sonic hedgehog, Indian hedgehog, and desert hedgehog. No other relevant mutations in DSD-related genes were encountered. The gonads of one patient showed partial gonadal dysgenesis with loss of Leydig cells in tubular areas with seminoma in situ and a hyperplasia of Leydig cell-like cells expressing CYP17A1 in more dysgenetic parts of the gonad. In addition, both patients suffer from a polyneuropathy. High-resolution ultrasound revealed a structural change of peripheral nerve structure that fits well to a minifascicle formation of peripheral nerves. CONCLUSION: Mutations in DHH play a role in 46,XY gonadal dysgenesis and are associated with seminoma formation and a neuropathy with minifascicle formation. Gonadal dysgenesis in these cases may be due to impairment of Sertoli cell-Leydig cell interaction during gonadal development.

Management of disorders of sex development.

The medical term disorders of sex development (DSDs) is used to describe individuals with an atypical composition of chromosomal, gonadal and phenotypic sex, which leads to differences in the development of the urogenital tract and reproductive system. A variety of genetic factors have been identified that affect sex development during gonadal differentiation or in specific disorders associated with altered androgen biosynthesis or action. The diagnosis of DSDs in individuals and the subsequent management of patients and their families requires a targeted and structured approach, involving a multidisciplinary team with effective communication between the disciplines. This approach includes distinct clinical, imaging, laboratory and genetic evaluations of patients with DSDs. Although treatment of patients with DSDs can include endocrine and surgical options, many patients have concerns that arise from past incorrect treatments that were founded on the traditional binary concept of the sexes. To dispel these concerns, it is necessary to create centres of expertise for DSDs that include physicians, surgeons, psychologists and specialists in diagnostic procedures to manage patients and their families. Additionally, the inclusion of trained peer support in the multidisciplinary DSD team seems to be integral to the supportive management of patients with DSDs. Most importantly, dealing with DSDs requires acceptance of the fact that deviation from the traditional definitions of gender is not necessarily pathologic.

Further evidence for a susceptibility locus contributing to reading disability on chromosome 15q15-q21.

BACKGROUND: Linkage and association studies in dyslexia suggest that a susceptibility locus exists on chromosome 15q15-q21. OBJECTIVE: This study aims to evaluate these findings in an independent sample of dyslexia. METHODS: We performed linkage and association analyses using 82 families with dyslexia and 19 STR markers covering the target region on chromosome 15q. RESULTS: We observed suggestive evidence for linkage at STR-marker D15S143; this was the strongest implicated marker in the previous linkage studies on dyslexia. At the association level, linkage disequilibrium (LD) was found between dyslexia and markers within a circumscribed genomic region recently implicated in two independent studies on dyslexia. CONCLUSION: Our data and the previous reported findings present convincing evidence for a dyslexia-related gene within the identified linkage and LD region on chromosome 15q. However, at this stage it seems difficult to determine whether the linkage and association findings point to more than one susceptibility loci within this region. A definite answer to this question will require systematic single nucleotide polymorphism-based LD mapping within the implicated region, which should lead to the identification of the true dyslexia susceptibility gene(s).