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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 -
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 -
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 -
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 -
Minimally Invasive Therapy & Allied... Feb 2022We aimed to analyze the preliminary experience of a mini-plus percutaneous instrument (MpPc) setting in total laparoscopic hysterectomy (TLH).
INTRODUCTION
We aimed to analyze the preliminary experience of a mini-plus percutaneous instrument (MpPc) setting in total laparoscopic hysterectomy (TLH).
MATERIAL AND METHODS
Forty-three women who underwent a mini-plus percutaneous total laparoscopic hysterectomy at a tertiary-care university-based teaching hospital and academic affiliated private hospital between May 2017 and 2018 were included. MpPc-TLH was performed through one optical trans-umbilical 5-mm trocar, one 5-mm ancillary port on the right side, either one 2.4-mm percutaneous endoscopic instrument or 3-mm mini-laparoscopic port on the right upper quadrant and if required one 3-mm ancillary port on the left lower quadrant.
RESULTS
A total of 43 patients were included, with a median age of 48 years (range, 38-71 years). Indication for surgery included uterine myomas ( = 20), benign adnexal mass ( = 7), endometrial intraepithelial neoplasia ( = 6), endometrial cancer ( = 5), adenomyosis with abnormal bleeding ( = 3), and high-grade cervical dysplasia ( = 2). The median operating time was 100 min (range, 60-180 min), and the median estimated blood loss was 30 ml (range, 20-60ml). The median postoperative abdominal pain Visual Analog Scale score was 3 (range, 0-6).
CONCLUSIONS
The preliminary data suggest that MpPc approach is a feasible and safe surgical modality for total laparoscopic hysterectomy.
Topics: Adult; Aged; Endometrial Neoplasms; Female; Humans; Hysterectomy; Laparoscopy; Leiomyoma; Middle Aged; Retrospective Studies; Umbilicus
PubMed: 32723200
DOI: 10.1080/13645706.2020.1794899 -
Revue Des Maladies Respiratoires Jun 2018Most women with cystic fibrosis reach adulthood and should have appropriate gynecological follow-up and contraception. (Review)
Review
INTRODUCTION
Most women with cystic fibrosis reach adulthood and should have appropriate gynecological follow-up and contraception.
BACKGROUND
There is no specific contra-indication to any contraception due to cystic fibrosis itself. Combined estrogen-progesterone contraception can be used in most cases (including transplanted women). In case of transplantation, intra-uterine devices should be used carefully (risk of pelvic inflammatory disease, potential risk of contraceptive failure with copper intra-uterine devices). Hormonal contraceptives may not be effective in women taking corrective treatments aiming to correct the maturation defect of the chloride channel. Screening for cervical cancer is recommended with a pap smear every three years for women aged 25-65, but yearly and starting at a younger age among transplanted women who are at higher risk for cervical dysplasia. Human Papillomavirus vaccination should be offered to all young women.
OUTLOOK
Women with cystic fibrosis and health care providers should be better informed on screening and on sexual and reproductive health to avoid unplanned pregnancies, to take into account drug interactions and to prevent cervical disease.
CONCLUSION
Regular and specific gynecological management is mandatory in cases of cystic fibrosis.
Topics: Continuity of Patient Care; Contraception; Cystic Fibrosis; Female; Follow-Up Studies; Genital Neoplasms, Female; Gynecology; Humans; Monitoring, Physiologic; Papillomavirus Infections; Papillomavirus Vaccines
PubMed: 29958717
DOI: 10.1016/j.rmr.2017.08.004 -
Medicina (Kaunas, Lithuania) Apr 2023: Melorheostosis, also referred to in the literature as Leri's disease, is an unusual mesenchymal dysplasia with the clinical appearance of benign sclerosing bone... (Review)
Review
: Melorheostosis, also referred to in the literature as Leri's disease, is an unusual mesenchymal dysplasia with the clinical appearance of benign sclerosing bone dysplasia; it frequently occurs in late adolescence. Any bone in the skeletal system can be affected by this disease, though the long bones of the lower extremities are the most common, at any age. Melorheostosis has a chronic evolution, and symptoms are usually absent in the early stages. The etiopathogenesis is still unknown, however, numerous theories have been proposed that could explain the appearance of this lesion formation. An association with other benign or malignant bone lesions is also possible, and associations with osteosarcoma, malignant fibrous histiocytoma, or Buschke-Ollendorff syndrome have also been reported. There have also been reported cases of the malignant transformation of a pre-existing melorheostosis lesion into malignant fibrous histiocytoma or osteosarcoma. The diagnosis of melorheostosis can be made only based on radiological images, but, due to its polymorphism, additional imaging investigations are often necessary and sometimes only a biopsy can establish a definite diagnosis. Because there are currently no guidelines for treatment based on scientific evidence, due to the low number of cases diagnosed worldwide, our objective was to highlight the early recognition and specific surgical treatments for better prognosis and outcomes. : We conducted a review of the literature consisting of original papers, case reports, and case series and presented the clinical and paraclinical characteristics of melorheostosis. We aimed to synthesize the treatment methods available in the literature as well as determine possible future directions related to the treatment of melorheostosis. Furthermore, we presented the results of a case of femoral melorheostosis admitted to the orthopedics department of the University Emergency Hospital of Bucharest in a 46-year-old female patient with severe pain in the left thigh and limitation of joint mobility. Following the clinical examination, the patient complained of pain in the middle third of the left thigh in the antero-medial compartment; the pain appeared spontaneously and was aggravated during physical activity. The pain started about two years prior, but the patient experienced complete pain relief after the administration of non-steroidal anti-inflammatory drugs. In the last six months, the patient presented an increase in pain intensity without significant improvement following the administration of non-steroidal anti-inflammatory drugs. The patient's symptoms were mainly determined by the increase in the volume of the tumor and the mass effect on the adjacent tissues, especially on the vessels and the femoral nerve. The CT examination and bone scintigraphy showed a unique lesion in the middle third of the left femur and no oncological changes in the thoracic, abdominal, and pelvic regions; however, at the level of the femoral shaft, there was a localized cortical and pericortical bone lesion formation that surrounded approximately 180 degrees of the femoral shaft (anterior, medial, and lateral). It had a predominantly sclerotic structure but was associated with lytic areas with thickening of the bone cortex and areas of periosteal reaction. The next therapeutic gesture was to perform an incisional biopsy using a lateral approach at the level of the thigh. The histopathological result supported the diagnosis of melorheostosis. Additionally, immunohistochemical tests completed the data obtained after the microscopic examination through the classic histopathological technique The patient was discharged and included in a full medical recovery program for eight weeks in a specialized medical center, during which she also received analgesic treatment in maximum doses, but without improvement regarding her symptoms. Taking into account the chronic evolution of the pain, the complete lack of response to conservative treatment after eight weeks, and the lack of treatment guidelines in the case of melorheostosis, a surgical approach needed to be considered. The surgical option in this case, considering the circumferential location of the lesion at the level of the femoral diaphysis, was a radical resection. The surgical approach consisted of segmental resection to healthy bone tissue and reconstruction of the remaining defect with a modular tumoral prosthesis. At the 45-day postoperative control, the patient no longer complained of pain in the operated-on limb and was mobile with full support without gait difficulties. The follow-up period was one year, and the patient presented complete pain relief and a very good functional outcome. In the case of asymptomatic patients, conservative treatment seems to be a good option with optimal results. However, for benign tumors, it remains unclear whether radical surgery is a viable option. : Melorheostosis remains an incompletely understood disease, given the limited number of cases worldwide, and thus, there is a lack of clinical guidelines regarding specialized treatment.
Topics: Humans; Female; Adolescent; Middle Aged; Melorheostosis; Histiocytoma, Malignant Fibrous; Pain; Osteosarcoma; Anti-Inflammatory Agents
PubMed: 37241101
DOI: 10.3390/medicina59050869 -
Histopathology Jan 2021Paget's disease of the perianal skin is a rare form of extramammary Paget's disease, and may be a primary intraepithelial adnexal neoplasm or secondary due to spread...
AIMS
Paget's disease of the perianal skin is a rare form of extramammary Paget's disease, and may be a primary intraepithelial adnexal neoplasm or secondary due to spread from an underlying colorectal lesion, nearly always colorectal adenocarcinoma. Secondary perianal Paget's disease associated with non-invasive colorectal adenomas is exceedingly uncommon, with only a few reported cases.
METHODS AND RESULTS
Herein, we present the clinical and pathological features of the largest series of secondary perianal Paget's disease arising in association with colorectal adenomas. There was gender parity and the median age was 72 years (range = 68-76 years). In all cases, perianal Paget's disease was associated with colorectal adenomas, including three (75%) conventional tubular adenomas and one (25%) tubulovillous adenoma with serrated foci. All adenomas had high-grade dysplasia and one had intramucosal adenocarcinoma (lamina propria invasion; Tis), but all lacked submucosal invasion. The intraepithelial Paget's cells showed a colorectal phenotype by immunohistochemistry in all cases. At follow-up, two patients had no evidence of disease at 6 and 87 months, one had residual perianal Paget's disease at 8 months and one developed invasive adenocarcinoma of the perianal tissue at 36 months.
CONCLUSIONS
Similar to its mammary analogue, secondary perianal Paget's disease may arise in association with invasive and/or in-situ colorectal lesions. Although the latter is an uncommon presentation of a recognised rare disease, knowledge of this phenomenon is important to forestall overdiagnosis of invasion and potential overtreatment. The clinical course is variable, such that close follow-up is required.
Topics: Adenocarcinoma; Adenoma; Aged; Anal Canal; Anus Neoplasms; Colorectal Neoplasms; Female; Humans; Immunohistochemistry; Male; Paget Disease, Extramammary
PubMed: 32705713
DOI: 10.1111/his.14218