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Inflammatory Intestinal Diseases Jun 2020The true incidence of infection (CDI) in patients with an ileal pouch is unknown, and there is little published on its associated risk factors.
INTRODUCTION
The true incidence of infection (CDI) in patients with an ileal pouch is unknown, and there is little published on its associated risk factors.
OBJECTIVE
We aimed to evaluate the rate and risk factors of CDI in pouch patients.
METHODS
This was a retrospective review conducted at a single tertiary care inflammatory bowel disease (IBD) center. All ulcerative colitis or IBD-unspecified (IBD-U) patients who underwent total proctocolectomy with ileal pouch anal anastomosis for medically refractory disease or dysplasia between 2008 and 2017 were identified. Symptomatic patients tested for CDI were included. Demographic, disease, and surgical characteristics were collected. Nonparametric methods were used to compare continuous outcomes, and χ and Fisher's exact tests were used to compare patients with and without CDI as appropriate.
RESULTS
A total of 154 pouch patients had postoperative stool testing for symptoms of fever, urgency, increased stool frequency, hematochezia, incontinence, and abdominal and/or pelvic pain. CDI was diagnosed in 11 (7.1%) patients a median of 139 days (IQR 34-1,170) after the final surgical stage. Ten patients (90.9%) received oral vancomycin for 10 days and 1 patient (9.1%) received oral metronidazole for 2 weeks. Ten patients (90.9%) reported improvement in symptoms at completion of therapy. Nine patients (81.8%) were retested for CDI for recurrent symptoms and found to be negative. No patient had CDI recurrence. There was no significant difference in demographic and surgical characteristics, previous antibiotic or proton pump inhibitor use, or previous hospital admission among the patients with and without CDI.
CONCLUSIONS
CDI is a rare cause of infectious pouchitis and treatment with oral vancomycin improves symptoms.
PubMed: 32596255
DOI: 10.1159/000505658 -
JIMD Reports Mar 2021Orthopedic disease progresses in mucopolysaccharidosis type I (MPS I), even with approved therapies and remains a major factor in persistent suffering and disability....
BACKGROUND
Orthopedic disease progresses in mucopolysaccharidosis type I (MPS I), even with approved therapies and remains a major factor in persistent suffering and disability. Novel therapies and accurate predictors of response are needed. The primary objective of this study was to identify surrogate biomarkers of future change in orthopedic disease.
METHODS
As part of a 9-year observational study of MPS I, range-of-motion (ROM), height, pelvic radiographs were measured annually. Biomarkers in year 1 were compared to healthy controls. Linear regression tested for associations of change in biomarkers over the first year with change in long-term outcomes.
RESULTS
MPS I participants (N = 19) were age 5 to 16 years and on average 6.9 ± 2.9 years post treatment initiation. Healthy controls (N = 51) were age 9 to 17 years. Plasma IL-1β, TNF-α, osteocalcin, pyridinolines, and deoxypyridinolines were higher in MPS than controls. Within MPS, progression of hip dysplasia was present in 46% to 77%. A 1 pg/mL increase in IL-6 was associated with -22°/year change in ROM (-28 to -15; < .001), a 20 nmol/mmol creatinine/year increase in urine PYD was associated with a -0.024 Z-score/year change in height Z-score (-0.043 to -0.005; = .016), and a 20 nmol/mmol creatinine/year increase in urine PYD was associated with a -2.0%/year change in hip dysplasia measured by Reimers migration index (-3.8 to -0.1; = .037).
CONCLUSIONS
Inflammatory cytokines are high in MPS I. IL-6 and PYD were associated with progression in joint contracture, short stature, and hip dysplasia over time. Once validated, these biomarkers may prove useful for predicting response to treatment of skeletal disease in MPS I.
PubMed: 33728251
DOI: 10.1002/jmd2.12190 -
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 -
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 -
The British Journal of Dermatology Apr 2019In addition to the extent of atypical keratinocytes throughout the epidermis, actinic keratoses (AKs) are histologically characterized by downward-directed basal-layer...
BACKGROUND
In addition to the extent of atypical keratinocytes throughout the epidermis, actinic keratoses (AKs) are histologically characterized by downward-directed basal-layer expansion. It is not known whether this growth pattern correlates with the risk of developing invasive squamous cell carcinoma (iSCC).
OBJECTIVES
To characterize the prevalence of downward-directed basal-layer expansion of AKs adjacent to iSCC.
METHODS
The epidermis overlying and adjacent to iSCCs was assessed histologically. We determined the histological grade (AK I-III), basal growth pattern (PRO I-III) and accompanying parameters such as adnexal involvement.
RESULTS
Among 307 lesions, 52·4% of AKs were histologically classified as AK grade I, 38·1% as AK II and 6·8% as AK III (χ -test, P < 0·001). Only 2·6% of adjacent epidermal samples did not show any atypical keratinocytes. The epidermis adjacent to iSCCs was classified as having a PRO I basal growth pattern in 25·7%, PRO II in 31·9% and PROIII in 39·4% of cases. Only 2·9% of AKs showed no basal growth (χ -test, P < 0·001). In total 118 AKs (48·8%) showed extension into adnexal structures. These AKs were graded as PRO I in 18·6% of cases, PRO II in 30·5% and PRO III in 50·8%. The epidermis above iSCCs could be assessed only for upwards-directed growth and showed no significant differences in the three AK grades (P = 0·42).
CONCLUSIONS
Basal proliferative AKs, as well as atypical keratinocytes restricted to the lower third of the epidermis, are most commonly seen adjacent to iSCC, with less evidence for full-thickness epidermal dysplasia. Our study supports the important role of dysplastic keratinocytes in the epidermal basal layer and their potential association with iSCC.
Topics: Aged; Aged, 80 and over; Cancer Care Facilities; Carcinoma, Squamous Cell; Cell Proliferation; Epidermis; Female; Germany; Head; Head and Neck Neoplasms; Humans; Keratinocytes; Keratosis, Actinic; Male; Prevalence; Retrospective Studies; Severity of Illness Index; Skin Neoplasms
PubMed: 29526028
DOI: 10.1111/bjd.16536 -
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 -
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 -
Gastroenterology Report Oct 2019This cross-sectional study investigated the prevalence and risk factors of high-risk human papilloma virus (HPV) infection, especially types 16 and 18, and cervical...
BACKGROUND AND AIM
This cross-sectional study investigated the prevalence and risk factors of high-risk human papilloma virus (HPV) infection, especially types 16 and 18, and cervical neoplasia in female Inflammatory bowel disease (IBD) patients.
METHODS
From July 2014 to January 2017, sexually active, female, Chinese IBD patients (21-60 years) and age-matched controls underwent cervical ThinPrep cytology testing (TCT) and high-risk HPV-DNA detection, and completed questionnaires about awareness of cervical cancer and HPV. Cervical dysplasia was categorized as cervical intraepithelial neoplasia (CIN) 1, 2 and 3.
RESULTS
Of 124 IBD patients (30 ulcerative colitis and 94 Crohn's disease), 17 (13.7%) had high-risk HPV among whom 9 (7.3%) had HPV 16/18 infection and 4 (3.2%) had cervical CIN (3 CIN 3, 1 CIN 1) by pathology. Among 372 controls, 33 (8.9%) had high-risk HPV and only 1 (0.3%) had HPV 16 infection. Cervical TCT detected atypical squamous cells of unknown significance in one control; no control had CIN. The HPV 16/18 infection rate and CIN prevalence were significantly higher in IBD patients than controls (both < 0.001). The HPV-infection rate was higher in patients administered methotrexate [ = 0.005, odds ratio (95% confidence interval) 4.76 (1.471-15.402)] or more than two immunosuppressants [ = 0.013, odds ratio (95% confidence interval) 3.64 (1.255-10.562)]. Thiopurine, steroid, infliximab and disease behavior/location were not associated with HPV infection. Only 29.3% of patients had undergone cervical-cancer screening. Awareness of HPV infection and HPV-related cervical cancer was poor (28.2%).
CONCLUSIONS
Female IBD patients are at increased risk of high-risk HPV infection and cervical neoplasia, which may be associated with immunosuppressants. Education and routine follow-up with HPV-DNA testing and TCT are recommended, especially in female Chinese IBD patients.
PubMed: 31687153
DOI: 10.1093/gastro/goy053 -
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 -
Gastroenterology Report Feb 2019This study sought to evaluate the risk factors for the development of colitis-associated neoplasia (CAN) in Chinese patients with inflammatory bowel disease (IBD).
BACKGROUND
This study sought to evaluate the risk factors for the development of colitis-associated neoplasia (CAN) in Chinese patients with inflammatory bowel disease (IBD).
METHODS
IBD patients who developed CAN between 1999 and 2016 were identified from eight medical centers. In addition to initial pathology evaluation, a CAN diagnosis was confirmed by two expert pathologists. Patients with CAN ( = 29) were compared with non-CAN controls ( = 87). Matching was performed for gender and IBD type with a ratio of three controls to one subject.
RESULTS
Of the 29 patients with CAN, 8 (27.6%) had colorectal cancer (CRC), 20 (69.0%) had a final diagnosis of low-grade dysplasia and 1 (3.4%) had high-grade dysplasia. Multivariate analysis revealed that an older age at the time of IBD diagnosis and a longer IBD duration were independent risk factors for the development of CAN, with odds ratios of 1.09 [95% confidence interval (CI): 1.04-1.14, <0.001] and 1.14 (95% CI: 1.03-1.27, =0.013), respectively. Comparison between IBD patients with CRC and those with dysplasia indicated that the former were older at the time of IBD diagnosis (=0.012) and had longer IBD durations (=0.019).
CONCLUSIONS
Older age at the time of IBD diagnosis and longer IBD duration were found to be associated with the development of CAN in IBD patients.
PubMed: 30792868
DOI: 10.1093/gastro/goy039