A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner.

We deployed the Blended Genome Exome (BGE), a DNA library blending approach that generates low pass whole genome (1-4× mean depth) and deep whole exome (30-40× mean depth) data in a single sequencing run. This technology is cost-effective, empowers most genomic discoveries possible with deep whole genome sequencing, and provides an unbiased method to capture the diversity of common SNP variation across the globe. To evaluate this new technology at scale, we applied BGE to sequence >53,000 samples from the Populations Underrepresented in Mental Illness Associations Studies (PUMAS) Project, which included participants across African, African American, and Latin American populations.

Neuropsychiatric Genetics of Psychosis in the Mexican Population: A Genome-Wide Association Study Protocol for Schizophrenia, Schizoaffective, and Bipolar Disorder Patients and Controls.

No large-scale genome-wide association studies (GWASs) of psychosis have been conducted in Mexico or Latin America to date. Schizophrenia and bipolar disorder in particular have been found to be highly heritable and genetically influenced. However, understanding of the biological basis of psychosis in Latin American populations is limited as previous genomic studies have almost exclusively relied on participants of Northern European ancestry.

Increasing diversity in genomics requires investment in equitable partnerships and capacity building.

Calls for diversity in genomics have motivated new global research collaborations across institutions with highly imbalanced resources. We describe practical lessons we have learned so far from designing multidisciplinary international research and capacity-building programs that prioritize equity in two intertwined programs — the NeuroGAP-Psychosis research study and GINGER training program — spanning institutions in Ethiopia, Kenya, South Africa, Uganda and the united States.

Dorsal oral mucosa graft in combination with ventral penile flap as an alternative to repair obliterative stenosis of the anterior urethra in a single surgical time.

Purpose: Obliterative urethral stenosis is a type of urethral lesion that compromises the whole corpus spongiosum's circumference. We present our experience in resolving complex long segment urethral obliteration in a single procedure using a combination of dorsal onlay oral mucosa graft (OMG) and ventral fasciocutaneous penile skin flap.

Materials And Methods: A prospectively maintained database was reviewed, which included data of men presenting long, obliterative strictures.

Microfluidics on the fly: Inexpensive rapid fabrication of thermally laminated microfluidic devices for live imaging and multimodal perturbations of multicellular systems.

Microfluidic devices provide a platform for analyzing both natural and synthetic multicellular systems. Currently, substantial capital investment and expertise are required for creating microfluidic devices using standard soft-lithography. These requirements present barriers to entry for many nontraditional users of microfluidics, including developmental biology laboratories.

Safety and effectiveness evaluation of open reanastomosis for obliterative or recalcitrant anastomotic stricture after radical retropubic prostatectomy.

Purpose: To evaluate safety, efficacy and functional outcomes after open vesicourethral re - anastomosis using different approaches based on previous urinary continence.

Materials And Methods: Retrospective study of patients treated from 2002 to 2017 due to vesicourethral anastomosis stricture (VUAS) post radical prostatectomy (RP) who failed endoscopic treatment with at least 3 months of follow-up. Continent and incontinent patients post RP were assigned to abdominal (AA) or perineal approach (PA), respectively.

Animal Models of Diabetic Retinopathy.

Purpose Of Review: Diabetic retinopathy (DR) is one of the most common complications associated with chronic hyperglycemia seen in patients with diabetes mellitus. While many facets of DR are still not fully understood, animal studies have contributed significantly to understanding the etiology and progression of human DR. This review provides a comprehensive discussion of the induced and genetic DR models in different species and the advantages and disadvantages of each model.

The nuclear hormone receptor gene Nr2c1 (Tr2) is a critical regulator of early retina cell patterning.

Nuclear hormone receptors play a major role in the development of many tissues. This study uncovers a novel role for testicular receptor 2 (Tr2, Nr2c1) in defining the early phase of retinal development and regulating normal retinal cell patterning and topography. The mammalian retina undergoes an overlapping yet biphasic period of development to generate all seven retinal cell types.

Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV.

Mucolipidosis IV is a debilitating developmental lysosomal storage disorder characterized by severe neuromotor retardation and progressive loss of vision, leading to blindness by the second decade of life. Mucolipidosis IV is caused by loss-of-function mutations in the MCOLN1 gene, which encodes the transient receptor potential channel protein mucolipin-1. Ophthalmic pathology in patients includes corneal haze and progressive retinal and optic nerve atrophy.

Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum Disorders.

Autism spectrum disorders (ASDs) are a range of complex neurodevelopmental conditions principally characterized by dysfunctions linked to mental development. Previous studies have shown that there are more than 1000 genes likely involved in ASD, expressed mainly in brain and highly interconnected among them. We applied whole exome sequencing in Colombian-South American trios.

Role of Nuclear Receptors in Central Nervous System Development and Associated Diseases.

The nuclear hormone receptor (NHR) superfamily is composed of a wide range of receptors involved in a myriad of important biological processes, including development, growth, metabolism, and maintenance. Regulation of such wide variety of functions requires a complex system of gene regulation that includes interaction with transcription factors, chromatin-modifying complex, and the proper recognition of ligands. NHRs are able to coordinate the expression of genes in numerous pathways simultaneously.

Characterization of a spontaneous retinal neovascular mouse model.

Background: Vision loss due to vascular disease of the retina is a leading cause of blindness in the world. Retinal angiomatous proliferation (RAP) is a subgroup of neovascular age-related macular degeneration (AMD), whereby abnormal blood vessels develop in the retina leading to debilitating vision loss and eventual blindness. The novel mouse strain, neoretinal vascularization 2 (NRV2), shows spontaneous fundus changes associated with abnormal neovascularization.

Zolpidem arousing effect in persistent vegetative state patients: autonomic, EEG and behavioral assessment.

Objective: To study the Zolpidem arousing effect in persistent vegetative state (PVS) patients combining clinical evaluation, autonomic assessment by heart rate variability (HRV), and EEG records.

Methods: We studied a group of 8 PVS patients and other 8 healthy control subjects, matched by age and gender. The patients and controls received drug or placebo in two experimental sessions, separated by 10-14 days.

Is the use of prophylactic hemoclips in the endoscopic resection of large pedunculated polyps useful? A prospective and randomized study.

Background: The methods for preventing post-polypectomy bleeding (PPB) are not standardised and there are groups that use hemoclips for this purpose.

Objective: To study whether the use of hemoclips reduces PPB complications.

Materials And Methods: Prospective, randomised study of patients with pedunculated polyps larger than 10 mm.

Is the use of prophylactic hemoclips in the endoscopic resection of large pedunculated polyps useful? A prospective and randomized study.

Background: The methods for preventing post-polypectomy bleeding (PPB) are not standardised and there are groups that use hemoclips for this purpose.

Objective: To study whether the use of hemoclips reduces PPB complications.

Materials And Methods: Prospective, randomised study of patients with pedunculated polyps larger than 10 mm.

A Cuban perspective on management of persistent vegetative state.

The Cuban Group for Study of Disorders of Consciousness is developing several research protocols to search for possible preservation of residual brain and autonomic functions in cases of persistent vegetative and minimally conscious states. We present examples showing the importance of 3D anatomic reconstruction of brain structures and MRI tractography for assessing white matter connectivity. We also present results of use of proton magnetic resonance spectroscopy technique to follow up cognitive recovery in persistent vegetative state patients transitioning to minimally conscious state.

Intraoperative ERCP: What role does it have in the era of laparoscopic cholecystectomy?

In the treatment of patients with symptomatic cholelithiasis and choledocholithiasis (CBDS) detected during intraoperative cholangiography (IOC), or when the preoperative study of a patient at intermediate risk for CBDS cannot be completed due to the lack of imaging techniques required for confirmation, or if they are available and yield contradictory radiological and clinical results, patients can be treated using intraoperative endoscopic retrograde cholangiopancreatography (ERCP) during the laparoscopic treatment or postoperative ERCP if the IOC finds CBDS. The choice of treatment depends on the level of experience and availability of each option at each hospital. Intraoperative ERCP has the advantage of being a single-stage treatment and has a significant success rate, an easy learning curve, low morbidity involving a shorter hospital stay and lower costs than the two-stage treatments (postoperative and preoperative ERCP).

Is outpatient ERCP suitable, feasible, and safe? The experience of a Spanish community hospital.

Background: We wanted to evaluate the safety of outpatient endoscopic retrograde cholangiopancreatography (ERCP). The follow-up of an ERCP outpatient during a short observation period could be a feasible and safe approach.

Methods: To evaluate the safety of outpatient ERCP, we assessed the rate of post-ERCP complications found and missed during a 6-h observation period after therapeutic ERCP.