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Endometrial cancer is a complex disease influenced by both somatic and germline mutations. While individual mutations in genes such as PTEN, PIK3CA , and members of the DNA mismatch repair (MMR) system have been extensively studied, comprehensive analyses comparing somatic and germline mutations within the same cohort are limited. This study compares these mutations using whole exome sequencing (WES) data from tumor and blood samples in patients with endometrial cancer. Thirteen female patients with histologically confirmed endometrial cancer were selected. Tumor tissues and matched blood samples were collected and subjected to WES at the CeGaT laboratory, followed by bioinformatics analysis and annotation using the Geneyx platform. WES revealed significant somatic and germline DNA mutations, with key pathogenic variants identified in genes such as PTEN, PIK3CA, TP53, MLH1 , and MSH2 . Comparative analysis showed distinct and overlapping mutation profiles, highlighting the importance of integrating somatic and germline data in endometrial cancer research., Competing Interests: The authors declare no conflict of interest., (© 2024 by the authors.)

Fertility preservation in cancer patients is currently based on either assisted reproductive technology or fertility-sparing surgery. Loss of fertility may be caused by excisional surgery associated with an adnexal or uterine pathology or secondary to gonadal insufficiency caused by chemotherapy or radiation. The counseling of these patients is very important, being carried out jointly by the oncologist, gynecologist, and reproductive medicine specialist. Reproductive surgery usually requires avoiding laparotomy to significantly reduce the formation of adhesions and trauma or tissue damage. This is done using standard laparoscopic surgery or robotic surgery (computer-assisted laparoscopy), a method increasingly used and accessible to all specialists who want to maintain the fertility of their patients with various oncological diseases., Competing Interests: The authors declare no conflict of interest., (©2023 JOURNAL of MEDICINE and LIFE.)

The negative consequences of microgravity for the human body are central aspects of space travel that raise health problems. Altered functions of the same systems and treatment options are common points of spaceflight physiology, age-related diseases, and oral medicine. This work emphasizes the convergence of knowledge between pathophysiological changes brought on by aging, physiological reactions to microgravity exposure, and non-pharmacological and non-invasive treatment methods that can be used in spaceflight. Sarcopenia, peripheral nerves alterations, neuromotor plaque in the masticatory muscles, lingual, labial, and buccal weakness, nociplastic pain in oral mucosal diseases, and microgravity, as well as soft tissue changes and pathologies related to chewing and swallowing, corticomotor neuroplasticity of tongue, and swallowing biomechanics, are of particular interest to us. Neurologic disease and other pathologies such as recovery from post-stroke dysphagia, nociplastic pain in glossodynia, sleep bruxism, and obstructive sleep apnea have been studied and, in some cases, successfully treated with non-invasive direct and transcranial magnetic stimulation (TMS) methods in recent decades. An interdisciplinary team from medical specialties, engineering, and biophysics propose an exploratory study based on the parallelism of ageing and space physiology, along with experiment scenarios considering TMS and non-invasive direct methods., Competing Interests: The authors declare no conflict of interest., (©2023 JOURNAL of MEDICINE and LIFE.)

VACTERL represents an acronym for a broad spectrum of congenital anomalies such as vertebral anomalies, anorectal anomalies (anal atresia), cardiac anomalies, tracheoesophageal fistula or atresia, renal anomalies, and limb anomalies. We present the case of a male fetus with multiple anomalies consistent with VACTERL association such as scoliosis, imperforate anus, common truncus arteriosus, tracheoesophageal fistula associated with inferior esophagus atresia, polycystic kidneys, with short right ureter, lower limb hypoplasia micrognathia, hygroma, duodenal atresia, and cloacal malformation, with an aberrant omphalomesenteric duct. The presented case highlights the crucial importance of pathologists specialized in the dissection and confirmation of fetal abnormalities as an essential part of the multidisciplinary team that establishes the management of complicated pregnancies with this type of pathology., (©2021 JOURNAL of MEDICINE and LIFE.)

Investigation of the mechanisms promoting the development of menstrual function disorders associated with obesity in adolescent girls is one of the most important issues of modern medicine. This study included 110 patients. 79 patients aged 12-18 with menstrual disorders associated with obesity were divided into two groups: group 1: 46 patients with apparent signs of hyperandrogenism, group 2: 33 patients without clinical manifestations of hyperandrogenism. The control group included 31 girls of the same age with a regular menstrual cycle. The complex of hormone examination of adolescent girls included determination of serum content: gonadotropic hormones (luteinizing hormone (LH) and follicle-stimulating hormone (FSH), prolactin (PRL), estradiol (E2), testosterone (T), progesterone (PR), dehydroepiandrosterone sulfate; insulin (In) - radioisotope method on a gamma counter "Narcotest" (reagents "IMMUNOTECH", Czech Republic). We identified hyperleptinemia and leptin resistance in patients with menstrual function impairment associated with obesity. In group I, the adiponectin level exceeded the values of the control group (p<0.05). The results revealed a decrease in A/L in group I - 5.4 times compared with patients in group II (p<0.05) and 4.3 times - compared with the control group (p<0.05). The results revealed a decrease in A/L among girls in the group I with MFI associated with obesity - 4.3 times - compared with girls in the control group (p<0,05)., (©2021 JOURNAL of MEDICINE and LIFE.)

The wide access to varied, attractive, and aggressively promoted information can induce pregnant women to think that any form of complementary therapy can be a saving solution for a medical problem because these therapies are natural, therefore, harmless. Updated information from literature about indications, benefits, limits, and risks of phytotherapy in pregnancy was presented. Valuable therapeutic resources with proven clinical efficacy (evidence-based medicine) were presented for each trimester of pregnancy, during labor, postpartum, but also during breastfeeding. For some phytotherapeutics, there are scientific studies. There is also a detailed presentation about some possibilities for therapeutic errors, which should be avoided during pregnancy. Positive results of phytotherapy deserve to be known and applied by the obstetrician for the certain benefit of future mothers., (©2021 JOURNAL of MEDICINE and LIFE.)

Omphalocele (exomphalos) represents one of the most frequent congenital abdominal wall defects. It presents as a defect of inconstant size and is located on the midline, at the base of the umbilical cord, the skin, fascia, and abdominal muscles being absent at this level. Omphaloceles are classified as liver-containing or non-liver-containing, the latter containing primarily bowel loops. We present the case of a 37-year-old pregnant woman with an early diagnosis of liver-containing omphalocele associating ductus venosus reversed flow, with the aim to highlight the importance of the first-trimester morphology scan and to develop a pilot study regarding the neurological development of infants after surgical repair of giant omphaloceles. The particularity of this case consists of a fetus with a positive diagnosis of a giant liver-containing omphalocele but with a small abdominal wall defect during the first-trimester morphology scan at 13 weeks and 3 days of gestation which associated ductus venosus reversed flow, presenting a normal karyotype postabortum. With a small defect, we can speculate the risk of strangling besides the mechanical traction exercised on the ductus venosus generating fetal distress, specifically fetal hypoxia at an early gestational age. In conclusion, the main issue, in this case, was if the fetal omphalocele and ductus venosus reversed flow indicated fetal hypoxia, what was the obstruction effect on the oxygenated blood pathway caused by the abdominal defect, and which were the long-term effects on infants with this complex pathology with an unknown outcome., (©2021 JOURNAL of MEDICINE and LIFE.)

The appearance of urological complications is a major problem in obstetrics and gynecologic surgery; the bladder is the most common damaged organ. Due to a continuous increase in the rate of cesareans, the incidence of urologic complications will be potentially higher. We reviewed the most important risk factors for urinary tract injury and analyzed the strategies necessary to avoid these situations during vaginal birth after cesarean (VBAC). The risks and benefits of VBAC should be balanced before deciding the mode of delivery., (©2021 JOURNAL of MEDICINE and LIFE.)

The purpose of the study was TO analyze the fetoplacental complex hormone levels and changes in their dynamics in pregnant women with miscarriage and the impact of these features on the subsequent course of pregnancy. Hormone levels were determined at different stages of gestation in 50 healthy women with a physiological course of pregnancy (control group) and 50 pregnant women with a history of miscarriage (main group). The women of the main group had a significantly slower rate of increase in hormones and a lag in quantitative indicators than the control group. The estradiol level indicators were 4.1 times (76.0%) and 2.89 times (65.5%) lower in women with miscarriage in the embryonic and late fetal period, respectively, compared to healthy women. Indicators of the level of placental lactogen and chorionic gonadotropin in the embryonic period in women with miscarriage were lower by 39.1% and 50.9%, respectively, compared to healthy women. In the late fetal period, the level of these hormones was lower by 72.9% and 35.4%, respectively. In the embryonic and late fetal periods, progesterone levels were lower by 67.4% and 68.4%, respectively, compared to the control group. The data obtained are evidence of a pronounced hormonal abnormality of the placenta, and hence a marker of fetoplacental dysfunction, which on the background of miscarriage develops at the early stages and continues to progress with the course of pregnancy., (©2021 JOURNAL of MEDICINE and LIFE.)

Investigation of the mechanisms promoting the development of irritable bowel syndrome (IBS) in obese patients is one of the most important issues of modern medicine. We examined 97 patients suffering from IBS. The group of comparison included 10 individuals with obesity. The control group included 21 practically healthy individuals. The levels of C-reactive protein (CRP) in the blood serum, tumor necrosis factor-α (TFNα), transforming growth factor-β1 (TGFβ1), interleukin-10 (IL-10), 8-isoprostane (IP), ceruloplasmin (CP) were examined. Endotoxicosis intensity was identified by the content of average molecular peptides in the blood and the Limulus Amebocyte Lysate (LAL) test. In the case of IBS with prevailing diarrhea, especially its comorbid course with obesity, cytokine imbalance was observed, which was manifested by a decreased amount of IL-10 in the blood serum and increased levels of TNFα and TGFβ1. Patients suffering from irritable bowel syndrome with prevailing diarrhea associated with obesity were characterized by high levels of C-reactive protein, fibrinogen and average molecules, increased content of pro-inflammatory cytokines (TFNα and TGFβ1) with a decreased content of IL-10, as well as imbalance of the pro-oxidant and anti-oxidant blood systems (increased content of 8-isoprostane and ceruloplasmin)., (©2021 JOURNAL of MEDICINE and LIFE.)

Accreta placenta spectrum is a complex obstetrical condition of abnormal placental invasion associated with severe maternal morbidity. This study aimed to analyze our therapeutic management and counseling of the cases with placenta accreta spectrum (PAS) associated with placenta previa. We performed a retrospective study of pregnant women with PAS associated with placenta previa at the Filantropia Clinical Hospital between January 2017-April 2021. In these cases, the earlier diagnosis was realized by an ultrasonographic scan and was confirmed by histopathological findings after the surgical treatment. The conservative management was obtained in one case at <37 weeks of gestation, and the maternal outcome was uterine preservation. Among the 12 patients, the mean age was 34±3.44 years. All women had risk factors for abnormally invasive placenta, such as placenta previa or previous cesarean delivery. Most women underwent planned cesarean delivery at the mean gestational age of 36.4±0.9 weeks. In our study, the uterus was preserved in only one case (8.33%), and hysterectomy with preservation of ovaries was performed in the rest of the cases. Mean maternal blood loss during surgery was 2175±1440 ml. Severe maternal outcomes were recorded only in one case (8.33%). We identified a low uterine preservation rate and a good perinatal outcome. Conservative management should be reserved for fertility desire and extensive disease due to surgical difficulty. Early identification of the risk factors and strategic management may improve maternal and fetal outcomes., Competing Interests: The authors declare that there is no conflict of interest., (©2021 JOURNAL of MEDICINE and LIFE.)