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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 -
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 -
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 -
BMC Pregnancy and Childbirth Jan 2023Approximately 10-15% of 46,XY disorders of sex development (DSDs) have an SRY mutation residing in the high mobility group (HMG) domain. Here, we present a case of 46,XY...
BACKGROUND
Approximately 10-15% of 46,XY disorders of sex development (DSDs) have an SRY mutation residing in the high mobility group (HMG) domain. Here, we present a case of 46,XY DSD caused by a novel missense mutation in the HMG region of SRY rapidly progressing to germ cell tumors (GCTs).
CASE PRESENTATION
An adolescent female (15 years old) exhibiting primary amenorrhea was later diagnosed as a 46,XY female with bilateral gonadal dysplasia on the basis of peripheral lymphocyte karyotype 46,XY and a novel missense mutation in SRY (c.281 T > G, p.L94R). The novel missense mutation (c.281 T > G, p.L94R) and its adjacent region were conserved. Protein structure analysis showed that the mutant site was located in the middle of the HMG domain, and the mutant protein had a diminished ability to bind to DNA. Imaging examination revealed an adolescent female with a naive uterus. Laparoscopy and initial pathological examination revealed left gonadal dysplasia and right gonadal dysplasia with gonadoblastoma (GB). Right gonadectomy by laparoscopy was performed upon consent from the patient's parents. Less than 1 year postoperatively, the left gonadal gland deteriorated as observed by the findings of a mass in the left adnexal region by pelvic MRI and serum AFP > 1000 ng/ml by serological tests, and then total hysterectomy and adnexal and left gonadectomy by laparoscopy were performed. The GCT stage was classified as stage Ic according to FIGO. At this time, pathologic examination showed that the left gonad had progressed to yolk sac tumor and dysgerminoma. The patient underwent chemotherapy post-operatively but developed type III myelosuppression and tumor recurrence several months later.
CONCLUSIONS
The patient initially presented with right gonadoblastoma but chose only right gonadectomy by laparoscopy to preserve the female sex characteristics, which resulted in rapid deterioration of the left gonad and poor treatment outcomes. This case demonstrates the importance of early genetic diagnosis and treatment of 46,XY female DSD.
Topics: Adolescent; Female; Humans; Dysgerminoma; Endodermal Sinus Tumor; Gonadoblastoma; Gonads; Mutation, Missense; Neoplasm Recurrence, Local; Ovarian Neoplasms; Sex-Determining Region Y Protein
PubMed: 36694125
DOI: 10.1186/s12884-022-05317-3 -
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 -
Medicina (Kaunas, Lithuania) Nov 2022: Cervical squamous cell carcinoma (SCC) usually showed an infiltrative growth pattern into endocervical stroma. In rare cases, SCC spreads superficially as an...
: Cervical squamous cell carcinoma (SCC) usually showed an infiltrative growth pattern into endocervical stroma. In rare cases, SCC spreads superficially as an intraepithelial lesion to proximal uterine segments, and more rarely, involves invasive and more aggressive behavior on secondary sites. : In this study, we present the case of an interesting form of cervical SCC growth and we discuss the possible reasons for that presentation. : After clinical examination and repeated histomorphological analysis, we found remarkable cervical epithelial dysplasia (a high-grade squamous intraepithelial lesion-H-SIL). A histopathology report after conization and hysterectomy showed squamocellular carcinoma with microinvasive focuses. Interestingly, squamocellular carcinoma was found in the proximal uterine and adnexal structure, as well as intraepithelial and microinvasive lesions. : Our study described a rare presentation of primary cervical SCC with unusual adnexal involvement. This pattern of tumor growth should be especially considered for patients who are proposed for sparing surgical procedures. A detailed and multidisciplinary approach for every patient is very important because unpredictable cases are present. However, they are rare.
Topics: Female; Humans; Carcinoma, Squamous Cell; Hysterectomy; Neoplasms, Connective Tissue; Uterine Cervical Dysplasia; Uterine Cervical Neoplasms
PubMed: 36422194
DOI: 10.3390/medicina58111655 -
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 -
Annals of Medicine and Surgery (2012) Oct 2022Malignant tumours of the small bowel are uncommon in clinical practice. Adenocarcinoma is the most common of these tumours, accounting for approximately 35-45% of all...
INTRODUCTION
Malignant tumours of the small bowel are uncommon in clinical practice. Adenocarcinoma is the most common of these tumours, accounting for approximately 35-45% of all tumours. It may occur sporadically, in association with familial adenomatous polyposis coli or Peutz-Jeghers syndrome or hereditary non-polyposis colorectal cancer, or in association with chronic inflammatory bowel changes (such as Crohn's disease or celiac disease).
MATERIALS AND METHODS
We report a case of Early Discovery Of Small Bowel Adenocarcinoma In A Patient Admitted For 4 Acute Intestinal Intussusception in the department of Emergency visceral surgery P35 of the ibn rochd hospital in casablanca.
RESULTS
Our patient was admitted to the emergency room for sub-occlusive syndrome with generalized abdominal pain of chronic appearance dating back to one month before his admission With Abdominal and pelvic ultrasound showed: intestinal parietal thickening and minimal ascites (peritoneal and/or intestinal tuberculosis? Crohn's disease)The patient underwent an abdominal-pelvic CT scan which showed: Presence of diffuse small bowel thickening, involving several small intestines and the colonic angle with intestinal invaginations (at least 3) suspecting an inflammatory or tumoral origin? To be compared with histological data and infiltration of the mesenteric fat in the sub-umbilical region with a peritoneal effusion in the Douglas. the patient was operated on in the emergency room, approached by laparotomy and found on exploration: Presence of 3 invaginations in the small intestine located at 20cm and 90cm from the Duodenojejunal Angle (DIA) as well as at 25cm from the Last part of the small intestine (DAI), with Presence of a colonic invagination at the level of the left colonic angle. the patient underwent 3 small bowel resections and one segmental colonic resection including segmental small bowel resections: the 1st one of 30 cm taking away an invagination of the small intestine at 20cm from the ADJ, the 2nd one taking away 60cm of invaginated located at 90cm from the ADJ the 3rd one taking away 20cm of invaginated located at 25cm from the DAI and a 4th resection taking away an invagination of the left colonic angle with 3 Anastomosis of the T-T small intestine and a transverse Colostomy in Bouilley Volkman.On examination by the anapathomopathologist: consistent with a small bowel tumour: well-differentiated intestinal adenocarcinoma on degenerated adenomatous polyps measuring 2.5cm and 1.7cm with an estimated 10% mucinous component with no vascular emboli and no peri-nervous sheathing. TNM stage p: pT2 with healthy resection margins in the left colon: Presence of a tubular adenoma with low grade dysplasia.
CONCLUSION
The most common symptoms of adenocarcinoma of the small bowel are obstruction, overt or covert bleeding, weight loss and jaundice. Because the small bowel has long been relatively inaccessible to routine endoscopy, the diagnosis of small bowel adenocarcinoma was often delayed for several months after the onset of symptoms. Therefore, in case of suspicion of this type of cancer, a thorough evaluation should be undertaken. Nowadays, endoscopy of the small bowel is widely available, allowing an earlier non-invasive diagnosis.
PubMed: 36268363
DOI: 10.1016/j.amsu.2022.104776 -
ANZ Journal of Surgery Sep 2022We aimed to determine pouch function and retention rate for restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) for ulcerative colitis (UC) in elderly...
AIM
We aimed to determine pouch function and retention rate for restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) for ulcerative colitis (UC) in elderly patients.
METHODS
We identified patients over 50 years old subjected to IPAA for confirmed pathological UC from 1980 until 2016. Patients were grouped according to age: 50-59, 60-69 and 70+ years. Short and long-term outcomes and quality of life (QOL) were compared among the groups.
RESULTS
Six hundred and one patients were identified (399 (66.4%) between 50-59 181 (30.1%) between 60-69, and 21 (3.5%) over 70 years of age). More males were in the 70+ arm, and more two-stage procedures were performed in this group. Wound infection increased with age (P = 0.023). There was a trend of more fistula and pouchitis in the 70+ patients (P = 0.052 and P = 0.055, respectively). Pouch failure rate increased with age, and it was statistically significant in the 70+ cohort (P = 0.015). Multivariate stepwise logistic regression showed that pelvic sepsis (HR 4.8 (95% CI 1.5-15.4), P = 0.009), fistula (HR 6.0 (95% CI 1.7-21.5), and mucosectomy with handsewn anastomosis (HR 4.5 (95% CI 1.4-14.7)), were independently associated with pouch failure. No difference was observed in the QOL among the groups, but pouch function was better for patients younger than 60 years.
CONCLUSION
In elderly patients with UC, IPAA may be offered with reasonable functional outcomes, and ileal pouch retention rates, as an alternative to the permanent stoma. Stapled anastomosis increases the chance of pouch retention and should be recommended as long as the distal rectum does not carry dysplasia.
Topics: Aged; Aged, 80 and over; Anastomosis, Surgical; Colitis, Ulcerative; Colonic Pouches; Contraindications; Humans; Male; Middle Aged; Proctocolectomy, Restorative; Quality of Life; Treatment Outcome
PubMed: 35434821
DOI: 10.1111/ans.17728 -
BMC Gastroenterology Apr 2022Emphysematous cystitis (EC) is characterized by the presence of air within the bladder wall, often a complication of urinary tract infection (UTI) by gas-producing...
BACKGROUND
Emphysematous cystitis (EC) is characterized by the presence of air within the bladder wall, often a complication of urinary tract infection (UTI) by gas-producing organisms. However, EC has also been reported in the setting of infectious colitis suggesting an alternate etiology. We report a rare case of EC in the setting of severe Crohn's colitis with no clinical evidence of UTI.
CASE PRESENTATION
A 43-year old female presented with a 2-month history of bloody diarrhea consisting of 8-12 bowel movements a day, weight loss of 10 kg and peripheral edema. She also had multiple ulcerated lesions on her abdominal wall and in the perianal region. Initial CT scan was significant for pancolitis, anasarca and EC. The follow-up CT cystogram, flexible cystoscopy and pelvic MRI confirmed the diagnosis of EC and ruled out any fistulous tracts in the pelvis including enterovesical/colovesical fistula. The patient did not report any urinary symptoms and the urinalysis was within normal limits. An extensive infectious workup was negative. Despite the paucity of infectious findings, the EC was empirically treated with an intravenous third-generation cephalosporin. Colonoscopy was significant for multiple ulcerated and hyperemic areas with pseudopolyps all throughout the right, transverse and left colon. Biopsies confirmed Crohn's colitis with no evidence of granulomata or dysplasia. Immunohistochemistry was negative for CMV. The perianal and abdominal wall lesions were suspected to be pyoderma gangrenosum although biopsies were equivocal. The colitis was initially treated with intravenous steroids followed by biologic therapy with Infliximab. Despite appropriate escalation of therapies, the patient developed colonic perforation requiring subtotal colectomy.
CONCLUSION
This is a rare case of EC in a patient with severe Crohn's colitis. There was no evidence of urinary tract infection or fistulising disease. According to our review, this is the first reported incident of EC in a patient with inflammatory bowel disease without any prior intra-abdominal surgeries. While active Crohn's disease alone is a critical illness, we conclude that concomitant EC may be a poor prognostic factor.
Topics: Adult; Colitis; Crohn Disease; Cystitis; Female; Humans; Infliximab; Intestinal Fistula
PubMed: 35410166
DOI: 10.1186/s12876-022-02253-6