A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.

Patients with galactosemia who carry the S135L (c.404C > T) variant of galactose-1-P uridylyltransferase (GALT), documented to encode low-level residual GALT activity, have been under-represented in most prior studies of outcomes in Type 1 galactosemia. What is known about the acute and long-term outcomes of these patients, therefore, is based on very limited data. Here, we present a study comparing acute and long-term outcomes of 12 patients homozygous for S135L, 25 patients compound heterozygous for S135L, and 105 patients homozygous for two GALT-null (G) alleles. This is the largest cohort of S135L patients characterized to date. Acute disease following milk exposure in the newborn period was common among patients in all 3 comparison groups in our study, as were long-term complications in the domains of speech, cognition, and motor outcomes. In contrast, while at least 80% of both GALT-null and S135L compound heterozygous girls and women showed evidence of an adverse ovarian outcome, prevalence was only 25% among S135L homozygotes. Further, all young women in this study with even one copy of S135L achieved spontaneous menarche; this is true for only about 33% of women with classic galactosemia. Overall, we observed that while most long-term outcomes trended milder among groups of patients with even one copy of S135L, many individual patients, either homozygous or compound heterozygous for S135L, nonetheless experienced long-term outcomes that were not mild. This was true despite detection by newborn screening and both early and life-long dietary restriction of galactose. This information should empower more evidence-based counseling for galactosemia patients with S135L.

Risk factors for perioperative blood transfusion in patients undergoing hysterectomy for benign disease in a teaching institution.

PURPOSE: The purpose is to identify risk factors for perioperative blood transfusion in patients undergoing hysterectomy for benign disease. METHODS: This study is a retrospective chart review including all the patients who underwent hysterectomy for benign disease between January 1st 2018 and December 31st 2019. Patients who received perioperative blood transfusion were identified and compared to those who did not. The following risk factors for blood transfusion were analyzed: route of hysterectomy, BMI, presence of adhesions, history of cesarean section, uterine weight. Descriptive statistics was used to analyze the data. RESULTS: A total of 517 patients were identified and included in the study. Forty-seven patients (9.09%) received a perioperative blood transfusion. The abdominal hysterectomy route (TAH) was a significant risk factor for receiving blood transfusion (p = 0.012). Other identified risk factors for blood transfusion included: Body mass index above 33.0 (p = 0.002), and uterine weight (p = 0.002). There was no association between the presence of pelvic adhesions (p = 0.91) or a personal history of cesarean section (p = 0.89) and receiving perioperative blood transfusion. When analyzing only the patients who underwent TLH, the presence of pelvic adhesion was found as a risk factor for perioperative blood transfusion (p = 0.024). CONCLUSION: The abdominal hysterectomy route, the presence of a large uterus, and obesity are risk factors for receiving a blood transfusion. Early identification of the patient at risk of requiring perioperative blood transfusion provides better patient counseling and surgical preparation.

Impaired receptivity of thin endometrium: therapeutic potential of mesenchymal stem cells.

The endometrium is a resilient and highly dynamic tissue, undergoing cyclic renewal in preparation for embryo implantation. Cyclic endometrial regeneration depends on the intact function of several cell types, including parenchymal, endothelial, and immune cells, as well as adult stem cells that can arise from endometrial or extrauterine sources. The ability of the endometrium to undergo rapid, repeated regeneration without scarring is unique to this tissue. However, if this tissue renewal process is disrupted or dysfunctional, women may present clinically with infertility due to endometrial scarring or persistent atrophic/thin endometrium. Such disorders are rate-limiting in the treatment of female infertility and in the success of in vitro fertilization because of a dearth of treatment options specifically targeting the endometrium. A growing number of studies have explored the potential of adult stem cells, including mesenchymal stem cells (MSCs), to treat women with disorders of endometrial regeneration. MSCs are multipotent adult stem cells with capacity to differentiate into cells such as adipocytes, chondrocytes, and osteoblasts. In addition to their differentiation capacity, MSCs migrate toward injured sites where they secrete bioactive factors (e.g. cytokines, chemokines, growth factors, proteins and extracellular vesicles) to aid in tissue repair. These factors modulate biological processes critical for tissue regeneration, such as angiogenesis, cell migration and immunomodulation. The MSC secretome has therefore attracted significant attention for its therapeutic potential. In the uterus, studies utilizing rodent models and limited human trials have shown a potential benefit of MSCs and the MSC secretome in treatment of endometrial infertility. This review will explore the potential of MSCs to treat women with impaired endometrial receptivity due to a thin endometrium or endometrial scarring. We will provide context supporting leveraging MSCs for this purpose by including a review of mechanisms by which the MSC secretome promotes regeneration and repair of nonreproductive tissues.

Medical First-Trimester Termination of Pregnancy with Massive Fibroid Uterus.

First-trimester termination of pregnancy by medical or surgical route is highly effective with a low complication rate. Uterine abnormalities can complicate a procedure due to distortion of normal anatomy. In this case presentation, medical termination of pregnancy is performed using fetal intracardiac potassium chloride injection and intramuscular methotrexate.