Search

The use of assisted reproduction among women in relationships with other women has increased in the United States over the past decade as a result of increased legal access and social acceptance. Despite this shift, limited studies currently exist to guide optimal fertility care for this growing patient population of women seeking assisted reproduction. In this Commentary, assisted reproduction will be meant to include ovulation induction, intrauterine insemination (IUI), and in vitro fertilization (IVF). Conflicting studies suggest that self-identified lesbian women may demonstrate an increased prevalence of polycystic ovarian syndrome. Most available studies find that a woman's sexual orientation does not affect the outcome of fertility treatment. Self-identified lesbian women undergoing donor sperm IUI and IVF have similar pregnancy and live-birth rates as heterosexual women. Better evidence regarding patient demographics and comorbidities, underlying etiologies of subfertility, and assisted reproductive outcomes among women building families with other women is needed to optimize care.

Objective To determine the rate of live birth per blastocyst based on morphology and oocyte age using data from a single center. Methods This is a mathematical analysis and model building study of autologous blastocyst stage embryo transfers at a University-affiliated center. A total of 448 blastocyst stage embryos were transferred in 244 fresh and frozen embryo transfers from May 2015 through April 2018. Blastocyst morphology was divided into good, fair, and poor overall morphology grades. Each embryo transfer was modeled as an equation equating the sum of the unknown live birth rates of the transferred embryos to the number of live births that resulted. The least squares solution to the system of embryo transfer equations was determined using linear algebra. Results Trophectoderm morphology was a better predictor of live birth rate than inner cell mass morphology. Embryos graded AA/AB/BA (good) had the highest live birth rates followed by BB/CB (fair), and BC/CC (poor). In our youngest age group (25-32 years) live birth rates per embryo were 51% for good, 39% for fair, and 25% for poor quality embryos. In our oldest age group (40-44 years) the live birth rates per embryo were 22% for good, 14% for fair, and 8% for poor quality embryos. Conclusions These techniques can help analyze small datasets such as those from individual clinics to aid in determining the ideal number of embryos to transfer to achieve live birth while limiting the risk of multiple gestations.

Science, propelled forward by noble aspirations and, at times, human hubris, has the capacity to affect lives and alter the world in unanticipated ways. Even seemingly minor discoveries have repeatedly proven to have far reaching implications that experts within their respective fields could not have predicted. Nuclear technology is both a source of energy and a potential means of annihilation. The internet has both seamlessly connected the world but has also opened society to the misuse and manipulation of information. Both exemplify how new technologies have the potential for positive and negative outcomes that often go beyond what was initially intended. This is not a fault of science and innovation but rather an inherent occupational hazard as new discoveries exist within a gray zone between ignorance and comprehension. These gaps in our knowledge can only be filled over time as our knowledge expands. Innovations that were once seen as fringe, over time, become mainstream and that which was once revolutionary becomes a part of everyday life. Occasionally, a scientific advancement comes along that challenges societal norms and causes us to question what is feasible, acceptable, and ethical. Nowhere in the twenty-first century has this been more evident than within the fields of genetics and genetic engineering. As we gain a deeper understanding of the source code of life, from individual base pairs to epigenetic influences, the implications of new discoveries will go far beyond curing genetic diseases, and the possibilities will be endless. Reproductive endocrinology and infertility (REI) specialists utilize many tools including expanded carrier screening, preimplantation genetic testing, and embryo selection and have become some of the experts at the forefront of the ongoing genetic revolution. Now more than ever, there is a need for REIs to be trained in the fundamentals of genetics, exposed to novel gene sequencing and editing techniques, and involved in the coming ethical discussions in order to be prepared for the genetically engineered future.

Visual Abstract, Reelin (Reln) and Disabled-1 (Dab1) participate in the Reln-signaling pathway and when either is deleted, mutant mice have the same spinally mediated behavioral abnormalities, increased sensitivity to noxious heat and a profound loss in mechanical sensitivity. Both Reln and Dab1 are highly expressed in dorsal horn areas that receive and convey nociceptive information, Laminae I–II, lateral Lamina V, and the lateral spinal nucleus (LSN). Lamina I contains both projection neurons and interneurons that express Neurokinin-1 receptors (NK1Rs) and they transmit information about noxious heat both within the dorsal horn and to the brain. Here, we ask whether the increased heat nociception in Reln and dab1 mutants is due to incorrectly positioned dorsal horn neurons that express NK1Rs. We found more NK1R-expressing neurons in Reln-/- and dab1-/- Laminae I–II than in their respective wild-type mice, and some NK1R neurons co-expressed Dab1 and the transcription factor Lmx1b, confirming their excitatory phenotype. Importantly, heat stimulation in dab1-/-mice induced Fos in incorrectly positioned NK1R neurons in Laminae I–II. Next, we asked whether these ectopically placed and noxious-heat responsive NK1R neurons participated in pain behavior. Ablation of the superficial NK1Rs with an intrathecal injection of a substance P analog conjugated to the toxin saporin (SSP-SAP) eliminated the thermal hypersensitivity of dab1-/- mice, without altering their mechanical insensitivity. These results suggest that ectopically positioned NK1R-expressing neurons underlie the heat hyperalgesia of Reelin-signaling pathway mutants, but do not contribute to their profound mechanical insensitivity.

Nilay S Shah,* Jasmine Rassiwala,* Allison L Ducharme-Smith, David A Klein, Ashley S Kim, ClaudiaLeung, Rabih Dahdouh, Stephen HavasDepartment of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA *These authors contributed equally to this workBackground: Cardiovascular diseases are the leading cause of preventable morbidity and mortality in the USA. Medical schools must prepare trainees to address prevention, including improving ability in counseling patients to modify lifestyle risk factors. Most medical students do not receive significant training or clinical experience in preventive medicine until the clinical years of medical school. To enhance student education in disease prevention and lifestyle counseling, and simultaneously target cardiovascular disease prevention in high-risk Chicago neighborhoods, the Northwestern University Feinberg School of Medicine and Chicago Department of Public Health with support from the GE Foundation, developed the Keep Your Heart Healthy program.Methods: Medical students participated in intensive faculty-led training. They subsequently screened local residents to identify and counsel for cardiovascular disease risk factors. Fifty-one predominantly preclinical medical students screened residents of the Humboldt Park and North Lawndale neighborhoods in Chicago, IL, at 31 screening events from August to December 2013. Fifty students (98% response rate) completed a survey assessing the educational value of various program components following the pilot.Results: Of all respondents, 92% of students reported improved knowledge of cardiovascular disease prevention and 94% reported improved knowledge of vulnerable populations and health equity. The majority (88%) reported that their participation supplemented material they learned in the classroom. Eighty-six percent of students reported that their encounters with community participants were of educational value. Integration of this program into the medical school curriculum was supported by 68% of students.Conclusion: Keep Your Heart Healthy educates primarily preclinical medical students in cardiovascular disease prevention and prepares them to apply this knowledge for patient counseling. Results from student surveys demonstrate that this service-learning initiative enhances medical student knowledge in cardiovascular disease prevention, supplements classroom material, and provides students a valuable opportunity to apply interviewing and counseling skills in a real patient encounter.Keywords: service learning, undergraduate medical education, cardiovascular disease, prevention, community health

We present a case of a patient in whom subcutaneous emphysema, pneumoperitoneum, and pneumothorax occurred on postoperative day 1 after robotic-assisted supracervical hysterectomy, bilateral salpingectomy, sacrocolpopexy, and retropubic midurethral sling placement for pelvic organ prolapse and stress urinary incontinence. This case demonstrates a rare complication of gynecologic laparoscopic procedures.

Serpentine fibula polycystic kidney syndrome (SFPKS; OMIM600330) is a rare skeletal dysplasia with a characteristic phenotype that includes polycystic kidneys, S-shaped fibulas, and abnormal craniofacial features. SFPKS shares features with Alagille (AGS; OMIM) and Hajdu–Cheney (HCS; OMIM10250) syndromes. All three syndromes result from mutations in the gene that encodes NOTCH2, one of the receptors involved in Notch signaling. Notch signaling is a major developmental signaling pathway, as well as a key regulator of numerous cellular processes. In this report, we present the prenatal ultrasound and postnatal findings in a 23-week fetus with severe manifestations of SPKS and heterozygosity for a de novo mutation in exon 34 of NOTCH2. These findings expand the phenotypic spectrum of NOTCH2 mutations and demonstrate the findings in the prenatal period. © 2014 Wiley Periodicals, Inc.

Reelin (Reln) and Disabled-1 (Dab1) participate in the Reln-signaling pathway and when either is deleted, mutant mice have the same spinally mediated behavioral abnormalities, increased sensitivity to noxious heat and a profound loss in mechanical sensitivity. Both Reln and Dab1 are highly expressed in dorsal horn areas that receive and convey nociceptive information, Laminae I–II, lateral Lamina V, and the lateral spinal nucleus (LSN). Lamina I contains both projection neurons and interneurons that express Neurokinin-1 receptors (NK1Rs) and they transmit information about noxious heat both within the dorsal horn and to the brain. Here, we ask whether the increased heat nociception inRelnanddab1mutants is due to incorrectly positioned dorsal horn neurons that express NK1Rs. We found more NK1R-expressing neurons inReln-/-anddab1-/-Laminae I–II than in their respective wild-type mice, and some NK1R neurons co-expressed Dab1 and the transcription factor Lmx1b, confirming their excitatory phenotype. Importantly, heat stimulation indab1-/-mice induced Fos in incorrectly positioned NK1R neurons in Laminae I–II. Next, we asked whether these ectopically placed and noxious-heat responsive NK1R neurons participated in pain behavior. Ablation of the superficial NK1Rs with an intrathecal injection of a substance P analog conjugated to the toxin saporin (SSP-SAP) eliminated the thermal hypersensitivity ofdab1-/-mice, without altering their mechanical insensitivity. These results suggest that ectopically positioned NK1R-expressing neurons underlie the heat hyperalgesia of Reelin-signaling pathway mutants, but do not contribute to their profound mechanical insensitivity.

Short-rib polydactyly (SRP) syndrome type III, or Verma-Naumoff syndrome, is an autosomal-recessive chondrodysplasia characterized by short ribs, a narrow thorax, short long bones, an abnormal acetabulum, and numerous extraskeletal malformations and is lethal in the perinatal period. Presently, mutations in two genes, IFT80 and DYNC2H1, have been identified as being responsible for SRP type III. Via homozygosity mapping in three affected siblings, a locus for the disease was identified on chromosome 9q34.11, and homozygosity for three missense mutations in WDR34 were found in three independent families, as well as compound heterozygosity for mutations in one family. WDR34 encodes a member of the WD repeat protein family with five WD40 domains, which acts as a TAK1-associated suppressor of the IL-1R/TLR3/TLR4-induced NF-κB activation pathway. We showed, through structural modeling, that two of the three mutations altered specific structural domains of WDR34. We found that primary cilia in WDR34 mutant fibroblasts were significantly shorter than normal and had a bulbous tip. This report expands on the pathogenesis of SRP type III and demonstrates that a regulator of the NF-κB activation pathway is involved in the pathogenesis of the skeletal ciliopathies.

Incretins are a group of gastrointestinal hormones detected both peripherally and in the central nervous system (CNS). Recent studies have documented multiple effects of incretins on brain structure and function. Research into the neurological effects of incretins has primarily focused on animal models of neurodegenerative disorders (e.g., Alzheimer's Disease, Huntington's and Parkinson's diseases). Mood disorders (e.g. bipolar disorder (BD), major depressive disorder (MDD)) are associated with similar alterations in brain structure and function, as well as a range of cognitive deficits (e.g. memory, learning, executive function). Brain abnormalities and cognitive deficits are also found in populations with metabolic disorders (e.g., diabetes mellitus Type 2). In addition, individuals with mood disorders often have co-morbid metabolic conditions, thus treatment strategies which can effectively treat both cognitive deficits and metabolic abnormalities represent a possible integrated treatment avenue. In particular, glucagon-like peptide-1 (GLP-1) and its more stable, longer-lasting analogues have been demonstrated to exert neuroprotective and anti-apoptotic effects, reduce beta-amyloid (Aβ) plaque accumulation, modulate long-term potentiation and synaptic plasticity, and promote differentiation of neuronal progenitor cells. In animal models of behaviour, treatment with GLP-1 receptor agonists has been demonstrated to improve measures of cognitive function including learning and memory, as well as reduce depressive behaviour. Available GLP-1 treatments also have a favourable metabolic profile which includes weight loss and reduced risk for hypoglycemia. Systematic evaluation of the effects of GLP-1 treatment in psychiatric populations who evince cognitive deficits represents a promising treatment avenue.

Tobacco exposure might be a modifiable risk factor for atopic dermatitis (AD).We examine the association between AD and exposure to tobacco smoke.We performed a systematic review and meta-analysis of observational studies (n = 86) in MEDLINE, EMBASE, Scopus, and Cochrane Library (1823-2015). Quality of evidence was assessed using the Newcastle-Ottawa Scale (NOS). A meta-analysis was performed using random-effects models to estimate pooled odds ratios (OR). Subset analyses were performed for different ages (children, adult), regions, study designs (cross-sectional, longitudinal), study sizes (5000, ≥5000), study quality (NOS score6, ≥6), and amount of smoking (mild, extensive).A diagnosis of AD was associated with higher odds of active smoking (OR 1.87, 95% confidence interval 1.32-2.63) and exposure to passive smoke (OR 1.18, 95% confidence interval 1.01-1.38), but not maternal smoking during pregnancy (OR 1.06, 95% confidence interval 0.80-1.40). The association between active smoking and AD remained significant in children and adults, all continents studied, and study sizes, but all were cross-sectional designs and had NOS score 6 or greater. Passive smoke was associated with AD in children and adults, cross-sectional studies, South/Central American and African studies, study size less than 5000, and NOS score less than 6.AD severity and distribution were not assessed.Active and passive exposure to smoke are associated with increased AD prevalence.

Previous studies found conflicting results about whether exposure to tobacco smoke is associated with increased atopic dermatitis (AD). We examined this association by systematic review and meta-analysis of MEDLINE, EMBASE, Scopus, and Cochrane Library and identified 86 studies, including 680,176 patients from 39 countries. A meta-analysis was performed using random-effects models to estimate pooled odds ratios (OR). Subset analyses were performed for different ages (children or adult), regions, study designs (cross-sectional vs. longitudinal), sizes (

Background: Cardiovascular diseases (CVD) are largely preventable yet remain leading causes of morbidity and mortality in Chicago, especially in minority neighborhoods. Hypothesis: Medical schools can engage students to conduct community CVD screening and consultation to reduce risks in low income Chicago communities with high CVD mortality rates. Objectives: Keep Your Heart Healthy (KYHH) initiative is a collaboration of the Feinberg School of Medicine, Chicago Department of Public Health, and community partners. The KYHH pilot aims to engage medical students to determine current CVD risks through screening and consultation in primarily Hispanic (Humboldt Park) and African American (North Lawndale) Chicago communities. We report on the pilot: August 1, 2013 to date. Methods: A total of 54 medical students volunteered, including 26% of the first-year class. A convenience sample of adults was recruited by community health workers. Medical student volunteers, trained by Feinberg faculty, conducted interviews to assess CVD risk by participant self report, measured body weight and blood pressure, and provided brief, personalized counseling based on the American Heart Association’s “Life’s Simple 7.” Participants with blood pressure ≥ 140/90 were referred to their primary care providers or a Federally Qualified Health Center. Randomly selected participants provided post-event survey feedback. Results: At 17 events, students (mean = 8) screened 650 participants in Humboldt Park (further data n=329 at time of submission) and 119 participants in North Lawndale. Demographics (Humboldt Park vs North Lawndale) were as follows: race/ethnicity (82% Latino vs 94% African American); age (63% vs 54% 40-65 years old); gender (62% vs 75% women). Self-reported CVD risk factors included cigarette smoking (31% vs 21%), diabetes (33% vs 17%), hypertension (47% vs 34%), and prior heart attack (8% vs 7%) or stroke (5% vs 1%). Obesity (42% vs 57%) and uncontrolled hypertension (20% vs 23%) rates were high. Humboldt Park and North Lawndale participants rarely (19% vs 15%) or sometimes (41% vs 43%) ate fruit/vegetables, and sometimes (42% vs 50%) or often (20% vs 22%) ate high-salt foods. Participants often lacked insurance or a usual source of care (32% vs 34%). The most common participant-identified goals were achieving a healthier body weight (51% vs 42%) or diet (41% vs 34%). Of 131 participants who provided post-event feedback, 95% indicated they learned something new about their heart health, 92% made goals to improve it, 99% indicated they understood their own personal risks, and 99% indicated they would recommend the screening to others. Conclusion: CVD risk factor burden is high in low income Chicago communities. KYHH is a model for engaging medical students to advance community health by conducting personalized screening and consultation. Early efforts have been well received by community residents.