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Gynecologic Oncology Jun 2020Cancer complicates 1 in 1000 pregnancies. Multidisciplinary consensus comprised of Gynecologic Oncology, Pathology, Neonatology, Radiology, Anesthesiology, Maternal... (Review)
Review
Cancer complicates 1 in 1000 pregnancies. Multidisciplinary consensus comprised of Gynecologic Oncology, Pathology, Neonatology, Radiology, Anesthesiology, Maternal Fetal Medicine, and Social Work should be convened. Pregnancy provides an opportunity for cervical cancer screening, with deliberate delays in treatment permissible for early stage carcinoma. Vaginal delivery is contraindicated in the presence of gross lesion(s) and radical hysterectomy with lymphadenectomy at cesarean delivery is recommended. Women with locally advanced and metastatic/recurrent disease should commence treatment at diagnosis with chemoradiation and systemic therapy, respectively; neoadjuvant chemotherapy to permit gestational advancement may be considered in select cases. Most adnexal masses are benign and resolve by the second trimester. Persistent, asymptomatic, benign-appearing masses can be managed conservatively; surgery, if indicated, is best deferred to 15-20 weeks, with laparoscopy preferable over laparotomy whenever possible. Benign and malignant germ cell tumors and borderline tumors are occasionally encountered, with unilateral adnexectomy and preservation of the uterus and contralateral ovary being the rule. Epithelial ovarian cancer is exceedingly rare. Ultrasonography and magnetic resonance imaging lack ionizing radiation and can be employed to evaluate disease extent. Tumor markers, including CA-125, AFP, LDH, inhibin-B, and even CEA and ßhCG may be informative. If required, chemotherapy can be administered following organogenesis during the second and third trimesters. Because platinum and other anti-neoplastic agents cross the placenta, chemotherapy should be withheld after 34 weeks to avoid neonatal myelosuppression. Bevacizumab, immune checkpoint inhibitors, and PARP inhibitors should be avoided throughout pregnancy. Although antenatal glucocorticoids to facilitate fetal pulmonary maturation and amniotic fluid index assessment can be considered, there is no demonstrable benefit of tocolytics, antepartum fetal heart rate monitoring, and/or amniocentesis. Endometrial, vulvar, and vaginal cancer in pregnancy are curiosities, although leiomyosarcoma and the dreaded twin fetus/hydatidiform mole have been reported. For gynecologic malignancies, pregnancy does not impart aggressive clinical behavior and/or worse prognosis.
Topics: Female; Humans; Pregnancy; Genital Neoplasms, Female; Pregnancy Complications, Neoplastic
PubMed: 32268951
DOI: 10.1016/j.ygyno.2020.03.015 -
Clinics in Colon and Rectal Surgery Nov 2022Ileal pouch-anal anastomosis is a popular way of reconstruction the gastrointestinal tract after total proctocolectomy for ulcerative colitis. The pouch-anal anastomosis... (Review)
Review
Ileal pouch-anal anastomosis is a popular way of reconstruction the gastrointestinal tract after total proctocolectomy for ulcerative colitis. The pouch-anal anastomosis is usually stapled, which requires the preservation of a small amount of upper anal canal and lower rectum. This includes the anal transition zone (ATZ), a surprisingly small and irregular ring of tissue at and just above the dentate line. The ATZ and rectal cuff is prone to inflammation and neoplasia, particularly in patients who had a colon cancer or dysplasia at the time their large bowel was removed. This high-risk group needs ATZ/rectal cuff surveillance before and after the surgery. Those without colorectal dysplasia preoperatively are at low risk of developing ATZ/rectal cuff dysplasia postoperatively and follow-up can be more relaxed. Treatment of ATZ dysplasia is difficult and may mean mucosectomy, pouch advancement, pouch removal, or a redo pelvic pouch.
PubMed: 36591401
DOI: 10.1055/s-0042-1758228 -
Orphanet Journal of Rare Diseases May 2021The ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and...
PURPOSE
The ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and sweat glands. The purpose of the current study was to evaluate ocular manifestations in pediatric patients with ED.
METHODS
Retrospective case series including consecutive ED subjects who were treated in the ophthalmology department at the Children's Hospital of Philadelphia over a 12-year period (2009-2020). Main Outcome Measures were ocular and ocular adnexal abnormalities.
RESULTS
Thirty subjects were included: 20 males (67%), mean age of 4.5 years (range 0.3-18). Patients with different subtypes were included, with the hypohidrotic ED and ectrodactyly-ectodermal dysplasia-clefting variants being most prevalent. Most common findings were: lacrimal drainage obstruction in 12 (40%) including punctal agenesis in 10 (33%), refractive errors in 13 (43%) and amblyopia in 6 (20%). A new finding of eyelid ptosis or eyelash ptosis was demonstrated in 11 subjects (37%), mostly associated with TP63 or EDA1 genes variants.
CONCLUSION
Ectodermal dysplasias are associated with various ocular pathologies and amblyopia in the pediatric population. We report a possible genetic association between lash ptosis and EDA1 gene, and eyelid ptosis and TP63 or EDA1 genes variants.
Topics: Adolescent; Child; Child, Preschool; Cleft Lip; Ectodermal Dysplasia; Humans; Infant; Limb Deformities, Congenital; Male; Retrospective Studies; Syndrome
PubMed: 33933124
DOI: 10.1186/s13023-021-01824-2 -
Journal of Clinical Oncology : Official... Apr 2007Serum CA-125 level is commonly used as indicator for ovarian cancer recurrence. However, its value for the prediction of neoplastic lesions is unknown. The aim of this...
PURPOSE
Serum CA-125 level is commonly used as indicator for ovarian cancer recurrence. However, its value for the prediction of neoplastic lesions is unknown. The aim of this study was to investigate whether CA-125 concentrations are indicative of adnexal dysplasia and cancer in women at hereditary high risk of ovarian/tubal cancer.
PATIENTS AND METHODS
CA-125 was obtained from 424 women at hereditary high risk of ovarian/tubal cancer attending the VU University Medical Center (Amsterdam, the Netherlands) between 1993 and 2005. Serum samples obtained at the second-to-last (n = 64) and last (n = 98) visit before surgery were tested in women who underwent adnexal surgery for diagnostic (n = 9) or prophylactic (n = 89) reasons. Serum samples obtained from 370 age-matched healthy women were used as controls.
RESULTS
Both the absolute value (P < .0001) and the serial change (P < .0001) of CA-125 were predictive for ovarian cancer (n = 8). For adnexal dysplasia (n = 23), the absolute value of CA-125 (P = .003) was predictive, but the serial change in CA-125 was not (P = .32). The odds ratio for adnexal dysplasia versus nondysplasia in the highest tertile (CA-125 levels 14 U/mL) compared with the lowest tertile (CA-125 < 10 U/mL) was 6 (95% CI, 1.32 to 36.66).
CONCLUSION
In patients at hereditary high risk for adnexal cancer, both the absolute value of serum CA-125 and the change in serial CA-125 are predictors for ovarian cancer. Remarkably, the absolute value of CA-125 is also predictive for adnexal dysplasia. CA-125 values should, therefore, be taken into account in the decision toward prophylactic bilateral salpingo-oophorectomy.
Topics: Adult; Biomarkers, Tumor; CA-125 Antigen; Case-Control Studies; Disease Progression; Early Diagnosis; Female; Genes, BRCA1; Genes, BRCA2; Genetic Predisposition to Disease; Humans; Logistic Models; Middle Aged; Neoplasm Recurrence, Local; Ovarian Neoplasms; Precancerous Conditions; Predictive Value of Tests; ROC Curve; Risk Factors; Statistics, Nonparametric
PubMed: 17416858
DOI: 10.1200/JCO.2006.06.7884 -
Diagnostics (Basel, Switzerland) May 2023A rise in the rates of sexually transmitted diseases, both worldwide and in Germany, has been observed especially among persons between the ages of 15 and 24 years.... (Review)
Review
A rise in the rates of sexually transmitted diseases, both worldwide and in Germany, has been observed especially among persons between the ages of 15 and 24 years. Since many infections are devoid of symptoms or cause few symptoms, the diseases are detected late, may spread unchecked, and be transmitted unwittingly. In the event of persistent infection, the effects depend on the pathogen in question. Manifestations vary widely, ranging from pelvic inflammatory disease, most often caused by Chlamydia trachomatis (in Germany nearly 30% of PID) or Neisseria gonorrhoeae (in Germany <2% of PID), to the development of genital warts or cervical dysplasia in cases of infection with the HP virus. Causal treatment does exist in most cases and should always be administered to the sexual partner(s) as well. An infection during pregnancy calls for an individual treatment approach, depending on the pathogen and the week of pregnancy.
PubMed: 37175047
DOI: 10.3390/diagnostics13091656 -
Inflammatory Bowel Diseases Nov 2023Patients with inflammatory bowel disease (IBD) are at increased risk of colorectal cancer. In cases of invisible or nonendoscopically resectable dysplasia found at...
BACKGROUND
Patients with inflammatory bowel disease (IBD) are at increased risk of colorectal cancer. In cases of invisible or nonendoscopically resectable dysplasia found at colonoscopy, total proctocolectomy with ileal pouch anal anastomosis can be offered with good long-term outcomes; however, little is known regarding cancer-related outcomes when dysplasia is found incidentally after surgery on final pathology.
METHODS
Using our prospectively collected pouch registry, we identified patients who had preoperative colonic dysplasia or dysplasia found only after colectomy. Patients with cancer preoperatively or after colectomy were excluded. Included patients were divided into 3 groups: PRE (+preoperative biopsy, negative final pathology), BOTH (+preoperative biopsy and final pathology), and POST (negative preoperative biopsy, +final pathology). Long-term outcomes in the 3 groups were assessed.
RESULTS
In total, 517 patients were included: PRE = 125, BOTH = 254, POST = 137. After a median follow-up of 12 years (IQR 3-21), there were no differences in overall, disease-free, or pouch survival between groups. Cancer/dysplasia developed in 11 patients: 3 (2%) in the PRE, 5 (2%) in the BOTH, and 3 (2%) in the POST group. Only 1 cancer-related death occurred in the entire cohort (PRE group). Disease-free survival at 10 years was 98% for all groups (P = .97). Pouch survival at 10 years was 96% for PRE, 99% for BOTH, and 97% for POST (P = .24).
CONCLUSIONS
The incidental finding of dysplasia on final pathology after proctocolectomy was not associated with worsened outcomes compared with preoperatively diagnosed dysplasia.
PubMed: 37963567
DOI: 10.1093/ibd/izad263 -
World Journal of Gastroenterology Aug 2015Restorative proctocolectomy with ileal-pouch anal anastomosis (IPAA) is the operation of choice for medically refractory ulcerative colitis (UC), for UC with dysplasia,... (Review)
Review
Restorative proctocolectomy with ileal-pouch anal anastomosis (IPAA) is the operation of choice for medically refractory ulcerative colitis (UC), for UC with dysplasia, and for familial adenomatous polyposis (FAP). IPAA can be a treatment option for selected patients with Crohn's colitis without perianal and/or small bowel disease. The term "pouchitis" refers to nonspecific inflammation of the pouch and is a common complication in patients with IPAA; it occurs more often in UC patients than in FAP patients. This suggests that the pathogenetic background of UC may contribute significantly to the development of pouchitis. The symptoms of pouchitis are many, and can include increased bowel frequency, urgency, tenesmus, incontinence, nocturnal seepage, rectal bleeding, abdominal cramps, and pelvic discomfort. The diagnosis of pouchitis is based on the presence of symptoms together with endoscopic and histological evidence of inflammation of the pouch. However, "pouchitis" is a general term representing a wide spectrum of diseases and conditions, which can emerge in the pouch. Based on the etiology we can sub-divide pouchitis into 2 groups: idiopathic and secondary. In idiopathic pouchitis the etiology and pathogenesis are still unclear, while in secondary pouchitis there is an association with a specific causative or pathogenetic factor. Secondary pouchitis can occur in up to 30% of cases and can be classified as infectious, ischemic, non-steroidal anti-inflammatory drugs-induced, collagenous, autoimmune-associated, or Crohn's disease. Sometimes, cuffitis or irritable pouch syndrome can be misdiagnosed as pouchitis. Furthermore, idiopathic pouchitis itself can be sub-classified into types based on the clinical pattern, presentation, and responsiveness to antibiotic treatment. Treatment differs among the various forms of pouchitis. Therefore, it is important to establish the correct diagnosis in order to select the appropriate treatment and further management. In this editorial, we present the spectrum of pouchitis and the specific features related to the diagnosis and treatment of the various forms.
Topics: Humans; Pouchitis; Predictive Value of Tests; Proctocolectomy, Restorative; Prognosis; Risk Factors; Terminology as Topic
PubMed: 26269664
DOI: 10.3748/wjg.v21.i29.8739 -
Frontiers in Surgery 2022Intestinal neuronal dysplasia (IND) is a rare condition mainly affecting the children. Constipation and abdominal distension have been reported as common manifestations....
BACKGROUND
Intestinal neuronal dysplasia (IND) is a rare condition mainly affecting the children. Constipation and abdominal distension have been reported as common manifestations. In addition, the reports about adult cases are scarce.
CASE REPORT
A 31-year-old man presented with pain in his left hip and intermittent fever for 1 month. The whole abdomen CT and pelvic contrast-enhanced MRI revealed a left psoas abscess (PA). The patient has been given anti-infective treatment and underwent CT-guided drainage of left PA with a temporary drain. But the patient's condition did not improve significantly. Then, the colonoscopy revealed that it may be the PA secondary to inflammatory bowel disease. But the pathology was not in line with inflammatory bowel disease. We finally performed an ileostomy surgery and took the whole layer of intestinal wall for biopsy. The pathological result revealed that a large number of proliferative ganglion cells and circuitous hyperplastic nerve fibers were found in the submucosa and muscular layer of the intestinal wall. Given pathological results and clinical manifestations, the patient was diagnosed with IND-B.
CONCLUSION
In this case, we first report an extremely rare case of adult IND manifesting as PA. So, this unusual case provides a new supplement to adult cases of IND.
PubMed: 36386499
DOI: 10.3389/fsurg.2022.957730 -
International Journal of Oral and... Oct 2021The aim of this multicentre retrospective cohort study was to describe and categorize the types of ocular and adnexal anomalies seen in patients with craniofacial...
The aim of this multicentre retrospective cohort study was to describe and categorize the types of ocular and adnexal anomalies seen in patients with craniofacial microsomia (CFM) and to determine their prevalence. In addition, the relationship between the OMENS-Plus and Pruzansky-Kaban classification for each patient and the presence of ocular anomalies was investigated. A total of 881 patients with CFM from four different craniofacial centres were included. Data on ocular anomalies were gathered from the patient charts. Ocular anomalies were present in 33.9% of patients. Four subgroups of ocular and adnexal anomalies were identified. Type I ocular anomalies were present in 22.2%, type II in 19.0%, type III in 18.4%, and type IV in 14.5%. Several potentially preventable and treatable ocular anomalies were identified. Higher OMENS-Plus classification orbit and soft tissue scores and Pruzansky-Kaban classification mandible scores were associated with an increased risk of ocular anomalies. Based on these results and the clinical implications ocular anomalies may have, we underline the importance of targeted ophthalmological screening in CFM. Healthcare professionals should be aware of the possibility of ocular anomalies in these patients, especially during the critical period for visual development.
Topics: Cohort Studies; Goldenhar Syndrome; Humans; Mandible; Prevalence; Retrospective Studies
PubMed: 33752938
DOI: 10.1016/j.ijom.2021.02.032 -
The Journal of Heredity 1997A male German shepherd pup had symmetrical areas of hairlessness as well as missing and misshapen teeth. There was no family history of a similar phenotype. In biopsies...
A male German shepherd pup had symmetrical areas of hairlessness as well as missing and misshapen teeth. There was no family history of a similar phenotype. In biopsies of the hairless skin and foot pads there were no hair follicles, adnexal structures, or eccrine glands. These findings resemble those in ectodermal dysplasia in the Tabby mouse and anhidrotic/hypohidrotic ectodermal dysplasia (HED) in man, which are both X-linked recessive disorders and thought to be homologous gene defects. While similar cases of ectodermal dysplasia have been reported in the dog and some genetic studies carried out, definitive confirmation of X-linked inheritance of canine ectodermal dysplasia is lacking. Family studies and experimental matings using the propositus gave results that confirm X-linked recessive inheritance. On statistical grounds, it is concluded that ED in the propositus is due to a new mutation. A colony of dogs with this mutation is maintained for further study.
Topics: Animals; Dog Diseases; Dogs; Ectodermal Dysplasia; Female; Genetic Linkage; Male; Pedigree; X Chromosome
PubMed: 9419891
DOI: 10.1093/oxfordjournals.jhered.a023146