Otocephaly

Otocephaly is a rare lethal syndrome of microstomia, aglossia, agnathia, and synotia. This male infant was born to a 19-year-old, gravida 1, para 0, woman who received routine prenatal check-up. Polyhydramnios, low-lying ears, and proboscis were noted by sonography at 29 weeks of gestation. Amniocentesis showed a normal karyotype of 46, XY. Premature rupture of membranes and preterm labor were noted at 32 weeks of gestation. A male infant was delivered preterm and died shortly after birth. The infant showed midline proboscis and absence of mandible. The simple, soft ears were extremely low-set and were near the midline of the neck. Otocephaly is regarded as the most severe form of first arch anomalies. Prenatal diagnosis should be dependent on ultrasound analysis. In the face of polyhydramnios, otocephaly is one of the possible fetal anomalies

A retrospective study of surgical treatment and outcome among women with adnexal torsion in eastern Taiwan from 2010 to 2015

Background Adnexal torsion is a gynecologic emergency that requires surgical treatment. In this study, we reviewed the surgical outcomes of women with adnexal torsion in eastern Taiwan (Hualien county, area 4,629 km2, 330,000 residents). Methods This retrospective study included 42 women diagnosed with surgically-proven adnexal torsion from January 1, 2010, to September 31, 2015. We compared the symptoms, objective findings, and surgical outcomes of patients who underwent laparotomy or laparoscopy. Results The laparoscopy and laparotomy groups included 27 and 15 patients, respectively. The most common symptom and sign was abdominal pain, followed by nausea and vomiting. In all patients, an adnexal tumor was detected through ultrasound. The median and range of time from admission to surgery was 1.5 (1–11.5) and 1.0 (1–11) hours in the laparotomy and laparoscopy groups, respectively. Compared with those undergoing laparotomy, the smaller tumor size [7 (4.2–10) vs. 10 (7–17) cm] and shorter hospital stay [4 (2–8) vs. 6 (3–9) days] in patients undergoing laparoscopy were significantly noted, respectively (P < 0.01). No differences were observed in age, operative time, and blood loss between both groups. The surgeries performed were mostly detorsion with cystectomy and adnexectomy. The most common pathology was a simple ovarian cyst, followed by teratoma. Regarding the surgical types, older age is the only risk factor for radical surgery. Discussion Acute onset of abdominal pain with a presenting ovarian tumor is the most common feature of adnexal torsion. Laparoscopic surgical group showed a small tumor size and a short ER hospital stay than laparotomy. Older age is the risk factor for radical surgery

Induced pluripotent stem cells and regenerative medicine

AbstractStem cells, a special subset of cells derived from embryo or adult tissues, are known to present the characteristics of self-renewal, multiple lineages of differentiation, high plastic capability, and long-term maintenance. Recent reports have further suggested that neural stem cells (NSCs) derived from the adult hippocampal and subventricular regions possess the utilizing potential to develop the transplantation strategies and to screen the candidate agents for neurogenesis, neuroprotection, and neuroplasticity in neurodegenerative diseases. In this article, we review the roles of NSCs and other stem cells in neuroprotective and neurorestorative therapies for neurological and psychiatric diseases. We show the evidences that NSCs play the key roles involved in the pathogenesis of several neurodegenerative disorders, including depression, stroke, and Parkinson’s disease. Moreover, the potential and possible utilities of induced pluripotent stem cells, reprogramming from adult fibroblasts with ectopic expression of four embryonic genes, are also reviewed and further discussed. An understanding of the biophysiology of stem cells could help us elucidate the pathogenicity and develop new treatments for neurodegenerative disorders. In contrast to cell transplantation therapies, the application of stem cells can further provide a platform for drug discovery and small molecular testing, including Chinese herbal medicines. In addition, the high-throughput stem cell-based systems can be used to elucidate the mechanisms of neuroprotective candidates in translation medical research for neurodegenerative diseases

Methylation of the Long Control Region of Hpv16 Is Related to the Severity of Cervical Neoplasia

Oncogenic human papillomavirus (HPV) is the cause of cervical cancer. Hypermethylation of the CpG islands located at the long control region ( LCR) of the HPV genome may regulate the expression of the major oncogenes E6 and E7, and may relate to cancer progression. The goal of the present study was to investigate the methylation patterns of CpG dinucleotides contained within the LCR of the HPV16 genome in a collection of clinical specimens comprising the full spectrum of cervical carcinogenesis. Study design: The status of LCR methylation was investigated in HPV16-infected cervical precancer and cancer cell lines, and in HPV16- infected low-grade squamous intratepithelial lesion of cervix (LSIL, n = 17), high-grade squamous intraepithelial lesion (HSIL, n = 21) and invasive squamous cell carcinoma ( SCC, n = 15) by bisulfite sequencing. Results: Among the three CpG islands of HPV16 LCR, methylation was found in three in the CaSki cell, in two upstream ones in SiHa cell, and none in the precancerous Z172 cell. Reactivation of E6 gene expression upon demethylation by 5-aza-dC and TSA treatments was noted in CaSki cells. In HPV-infected cervical specimens, progressive methylation of HPV16 LCR was noted, with rates of 5 .9%, 33.3% and 53.3% in LSIL, HSIL and SCC, respectively (P < 0.01). A trend toward increasing density of CpG methylation was also noted. Topologically, more methylated sites were found at the E6/E7 promoter region in SCC, compared with LSIL and HSIL Conclusion: The study disclosed downregulation of E6 gene transcription by LCR methylation in cervical cancer cells. Methylation of HPV 16 LCR is highly associated with severity of cervical neoplasm

Conservative Laparoscopic Management of Ovarian Teratoma Torsion in a Young Woman

Benign cystic tumors, specifically dermoid or mucinous cysts, are the most frequent causes of ovarian torsion. In clinical practice, adnexal torsion is usually subjected to adnexectomy to prevent embolism of thrombosed ovarian veins and its sequelae. However, this intervention is unsatisfactory for young women who want to preserve their fertility. In such situations, conservative management with untwisting of the adnexa, followed by cystectomy to preserve part of the ovary, would be a better option. In this report, we present a case of adnexal torsion due to cystic teratoma. A 25-year-old unmarried woman with lower abdominal pain and nausea was referred to our emergency room with suspicion of an ovarian mass. Ultrasonography showed a left ovarian mass measuring 9.7 × 6.5 × 6.2 cm with heterogeneous components within it. Laparoscopy showed an enlarged, dusky left ovary with torsion. Detorsion was performed and followed by cystectomy. The pathology revealed cystic teratoma of the ovary. We report this case to emphasize that untwisting of potentially viable adnexa, followed by cystectomy, in patients with adnexal torsion appears to be a safe procedure. This conservative approach should be encouraged in women of childbearing age to reduce the possibility of premenopausal loss of ovarian function

Transvaginal natural orifice transluminal endoscopic surgery hysterectomy in a woman with uterine adenomyosis and multiple severe abdominal adhesions

Natural orifice transluminal endoscopic surgery (NOTES) had been used for many gynecologic surgeries without pelvic adhesions. We report a 30-year-old female with multiple abdominal adhesions underwent NOTES hysterectomy successfully. A 30-year-old female (para 2, gravida 3, abortus 1) presented with menorrhagia and dysmenorrhea. She had multiple abdominal surgical histories. Computed tomography scan revealed multiple adhesions between the abdominal wall and small intestine. On pelvic ultrasonography, an enlarged uterus 8.3 cm × 3.5 cm with adenomyosis was visualized. Because of the extensive intra-abdominal adhesions, we decided to use a transvaginal NOTES approach to perform hysterectomy. We performed the surgery successfully without complication. Pathological examination confirmed adenomyosis of uterus. NOTES hysterectomy may be feasibly and safely performed in gynecologic patients with extensive abdominal adhesions

Feasibility of Wet and Non-Wet Placement of Seprafilm in Laparoscopic Surgeries: A Randomized Controlled Trial

Seprafilm becomes brittle and sticky after contact with water, rendering it difficult to use in laparoscopic surgery. Hence, Seprafilm is not used frequently in laparoscopic surgery. This prospective randomized controlled trial aimed to compare the feasibility of two methods of application of Seprafilm: wet and non-wet. Two groups comprised 30 patients, each with 180 pieces of Seprafilm. Symptomatic patients who underwent laparoscopic surgeries, including hysterectomy and adnexal surgeries, were recruited. Successful application of Seprafilm was defined as a smooth attachment to the site of application. Sticky and fractured Seprafilm sheets were defined as failed applications. Between March 2016 and December 2017, 60 patients underwent laparoscopic Seprafilm placement. The preparation time was 32.67 ± 16.63 and 79.50 ± 22.01 s in the non-wet and wet groups, respectively (p &lt; 0.00). The success rate of application was 95.4% in the non-wet group and 98.3% in the wet group (p = 0.09). Placement time was 599.50 ± 90.18 s and 592.53 ± 105.82 s in the non-wet and wet groups, respectively (p = 0.25). In conclusion, the wet and non-wet application methods of Seprafilm were feasible in laparoscopic surgeries. The preparation time was different between the two groups. However, the rate of successful application and placement time was not different between the two groups