Complications of percutaneous nephrostolithotomy

In 224 patients, renal stones were removed from the urinary tract using either direct extraction with a basket or forceps (59 patients), ultrasonic lithotripsy (164 patients), or infusion chemotherapy (one patient). Residual stone fragments were present more frequently in patients treated with ultrasonic lithotripsy (27%) than with direct extraction (5%). Other complications included hemorrhage (eight patients), catheter dislodgement (four patients), large amounts of urine extravasation (three patients), glycine ascites (three patients), infection (two patients), pneumothorax (one patient), and a prolonged ileus (one patient). More complications occurred among the first 50 patients than the last 50 patients, even though more difficult cases, including patients with staghorn calculi, were accepted during the latter period. Although a learning curve exists, complications can be minimized by attempting to treat more favorable cases during the initial experience.     

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

In a systematic sequencing screen of synaptic genes on the X chromosome, we have identified an autistic female without mental retardation (MR) who carries a de novo frameshift Ile367SerfsX6 mutation in Interleukin-1 Receptor Accessory Protein-Like 1 (IL1RAPL1), a gene implicated in calcium-regulated vesicle release and dendrite differentiation. We showed that the function of the resulting truncated IL1RAPL1 protein is severely altered in hippocampal neurons, by measuring its effect on neurite outgrowth activity. We also sequenced the coding region of the close related member IL1RAPL2 and of NCS-1/FREQ, which physically interacts with IL1RAPL1, in a cohort of subjects with autism. The screening failed to identify non-synonymous variant in IL1RAPL2, whereas a rare missense (R102Q) in NCS-1/FREQ was identified in one autistic patient. Furthermore, we identified by comparative genomic hybridization a large intragenic deletion of exons 3-7 of IL1RAPL1 in three brothers with autism and/or MR. This deletion causes a frameshift and the introduction of a premature stop codon, Ala28GlufsX15, at the very beginning of the protein. All together, our results indicate that mutations in IL1RAPL1 cause a spectrum of neurological impairments ranging from MR to high functioning autism.     

Role of oestrogen therapy in the management of short stature in Turner syndrome

It is now clear that parenteral growth hormone (GH) therapy stimulates growth and increases the adult stature of girls with Turner syndrome. In addition, oestrogens are given to almost all girls with this syndrome because of primary hypogonadism. Oestrogens influence both growth and maturation of the epiphyseal growth plates. Therefore, the form and timing of oestrogen therapy may have an important impact on the outcome of other growth-promoting therapies. To examine the impact of the timing of oestrogen initiation on growth, a randomized trial was conducted in patients with Turner syndrome who were receiving GH. Some patients received oestrogen at 12 years of age, while in others this treatment was not started until 15 years of age. Those girls that received oestrogen later were significantly taller as adults. The single most important factor in determining height gain appeared to be the number of years of GH therapy prior to the initiation of oestrogen treatment.     

New Principle of Closed System Centrifugation

Guest Editor's Introduction: Much of the early work on continuous flow centrifugation for the separation of blood components was done in the early 1950s in the laboratory of Dr. Cohn. The performance of these instruments and the effects on blood components were studied by teams of investigation under the directions of Tullis and Surgenor. This paper describes the basic components and the instruments developed by these efforts. The instrument was, then, manufactured by Arthur D. Little, Inc. and became known as the Cohn ADL Centrifuge. This paper was printed in Science vol. 124, page 792–797 (1956) and reprinted here with permission.     

Therapists’ perspectives on suicide: A conceptual model of connectedness

Background: A sense of disconnection for people who are suicidal seems to be a key construct of previous literature. Therapists’ ways of encountering and understanding people who are suicidal have not been previously researched in depth using qualitative methodologies. Aims: The current study aims to develop a theoretical framework for the role played by connectedness in relation to suicide based on the perspectives of psychotherapists working in the field of suicide intervention. Method: Psychotherapists (N?=?12) from a suicide intervention service in Ireland were interviewed in relation to connectedness and suicide. The interviews were analysed using Constructivist Grounded Theory. A tentative theoretical model for connectedness in relation to suicide was developed. Results: Therapists view self-disconnect as at the core of suicidality and note that toxic relationships also play a critical role. Therapeutic connection can present as a life-saving paradox for people who are suicidal. Risk of death and therapeutic endeavour may present as challenging dynamics for working with people who are suicidal. Some discussion points include the worth of self-compassion development for people who are suicidal, the rephrasing of “psychotherapy” when trying to save someone’s life and the emphasis on relationship skills for all healthcare professionals who encounter people who are suicidal.

Clinical or methodological significance of this article: This article is one of the first in which therapists are interviewed about their understandings of suicide and the processes of suicide in the therapeutic space. It offers novel insights about how people who are suicidal present in therapy and what may be contributing to this presentation. The research also gives insights on the struggles for therapists working with people who are suicidal and who may be ambiguous about the prospect of therapy and connecting. The study also offers important direction for future studies in relation to what requires further discussion and exploration regarding engaging in therapy with people who are suicidal. In addition, the current study can offer previously unexplored insights regarding suicide and therapy that may have the potential to assist in future intervention for people who are risk of killing themselves.     

Face shape of unaffected parents with cleft affected offspring: combining three‐dimensional surface imaging and geometric morphometrics

Authors – Weinberg SM, Naidoo SD, Bardi KM, Brandon CA, Neiswanger K, Resick JM, Martin RA, Marazita ML Objective – Various lines of evidence suggest that face shape may be a predisposing factor for non‐syndromic cleft lip with or without cleft palate (CL/P). In the present study, 3D surface imaging and statistical shape analysis were used to evaluate face shape differences between the unaffected (non‐cleft) parents of individuals with CL / P and unrelated controls. Methods – Sixteen facial landmarks were collected from 3D captures of 80 unaffected parents and 80 matched controls. Prior to analysis, each unaffected parent was assigned to a subgroup on the basis of prior family history (positive or negative). A geometric morphometric approach was utilized to scale and superimpose the landmark coordinate data (Procrustes analysis), test for omnibus group differences in face shape, and uncover specific modes of shape variation capable of discriminating unaffected parents from controls. Results – Significant disparity in face shape was observed between unaffected parents and controls (p < 0.01). Notably, these changes were specific to parents with a positive family history of CL / P. Shape changes associated with CL / P predisposition included marked flattening of the facial profile (midface retrusion), reduced upper facial height, increased lower facial height, and excess interorbital width. Additionally, a sex‐specific pattern of parent‐control difference was evident in the transverse dimensions of the nasolabial complex. Conclusions – The faces of unaffected parents from multiplex cleft families displayed meaningful shape differences compared with the general population. Quantitative assessment of the facial phenotype in cleft families may enhance efforts to discover the root causes of CL /P.