scholarly journals Recognition of Lynch Syndrome Amongst Newly Diagnosed Colorectal Cancers at St. Paul’s Hospital

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Steven Pi ◽  
Estello Nap-Hill ◽  
Jennifer Telford ◽  
Robert Enns

Background. Lynch Syndrome (LS) is the most common cause of inherited colorectal cancer (CRC). In British Columbia, most centres still use clinical criteria (Amsterdam II, Revised Bethesda, or the BC Cancer Agency’s criteria) to determine who should undergo further first-line testing in the form of microsatellite instability or immunohistochemistry staining. Given the limitations with this strategy, LS is thought to be underrecognized. Objective. To investigate whether LS is truly underrecognized when compared to the reported prevalence. Methods. A retrospective chart review of all CRC cases diagnosed at St. Paul’s Hospital from 2010 to 2013 was conducted. Results. 246 patients met inclusion criteria. 76% (83/109) with a family history of malignancy were unable to recall the specific malignancy or age of diagnosis. 18% (43/235) were only asked about a history of gastrointestinal related malignancy and 26% (65/246) met at least one of the three criteria but only 21% (13/63) received further investigation. Only 1.6% (4/246) had LS compared to the reported prevalence of 2–5% of all CRC cases. Conclusion. This data supports our hypothesis that LS is underrecognized. Issues at the patient, physician, and systems level need to be evaluated to determine where the limitations preventing appropriate testing are occurring.

2021 ◽  
pp. 019459982110089
Author(s):  
Quinn Dunlap ◽  
James Reed Gardner ◽  
Amanda Ederle ◽  
Deanne King ◽  
Maya Merriweather ◽  
...  

Objective Neck dissection (ND) is one of the most commonly performed procedures in head and neck surgery. We sought to compare the morbidity of elective ND (END) versus therapeutic ND (TND). Study Design Retrospective chart review. Setting Academic tertiary care center. Methods Retrospective chart review of 373 NDs performed from January 2015 to December 2018. Patients with radical ND or inadequate chart documentation were excluded. Demographics, clinicopathologic data, complications, and sacrificed structures during ND were retrieved. Statistical analysis was performed with χ2 and analysis of variance for comparison of categorical and continuous variables, respectively, with statistical alpha set a 0.05. Results Patients examined consisted of 224 males (60%) with a mean age of 60 years. TND accounted for 79% (n = 296) as compared with 21% (n = 77) for END. Other than a significantly higher history of radiation (37% vs 7%, P < .001) and endocrine pathology (34% vs 2.6%, P < .001) in the TND group, no significant differences in demographics were found between the therapeutic and elective groups. A significantly higher rate of structure sacrifice and extranodal extension within the TND group was noted to hold in overall and subgroup comparisons. No significant difference in rate of surgical complications was appreciated between groups in overall or subgroup analysis. Conclusion While the significantly higher rate of structure sacrifice among the TND population represents an increased morbidity profile in these patients, no significant difference was found in the rate of surgical complications between groups. The significant difference seen between groups regarding history of radiation and endocrine pathology likely represents selection bias.


Author(s):  
Marie Uecker ◽  
Joachim F. Kuebler ◽  
Nagoud Schukfeh ◽  
Eva-Doreen Pfister ◽  
Ulrich Baumann ◽  
...  

Abstract Introduction Age at Kasai portoenterostomy (KPE) has been identified as a predictive factor for native-liver survival in patients with biliary atresia (BA). Outcomes of pediatric liver transplantation (LT) have improved over recent years. It has been proposed to consider primary LT as a treatment option for late-presenting BA infants instead of attempting KPE. We present our experience with patients older than 90 days undergoing KPE. Materials and Methods A retrospective chart review of patients with BA undergoing KPE at our institution between January 2010 and December 2020 was performed. Patients 90 days and older at the time of surgery were included. Patients' characteristics, perioperative data, and follow-up results were collected. Eleven patients matched the inclusion criteria. Mean age at KPE was 108 days (range: 90–133 days). Results Postoperative jaundice clearance (bilirubin < 2 mg/dL) at 2-year follow-up was achieved in three patients (27%). Eight patients (73%) received a liver transplant at a mean of 626 days (range: 57–2,109 days) after KPE. Four patients (36%) were transplanted within 12 months post-KPE. Two patients died 237 and 139 days after KPE due to disease-related complications. One patient is still alive with his native liver, currently 10 years old. Conclusion Even when performed at an advanced age, KPE can help prolong native-liver survival in BA patients and offers an important bridge to transplant. In our opinion, it continues to represent a viable primary treatment option for late-presenting infants with BA.


2021 ◽  
Vol 17 (15) ◽  
pp. 1843-1854
Author(s):  
Alfredo Carrato ◽  
Davide Melisi ◽  
Gerald Prager ◽  
Christoph B Westphalen ◽  
Anabel Ferreras ◽  
...  

Aim: To survey European physicians managing patients with metastatic pancreatic ductal adenocarcinoma (PDAC) and understand differences in baseline characteristics, diagnostic methods, symptoms and co-morbidities. Materials & methods: Patient record inclusion criteria were: ≥18 years old, metastatic PDAC diagnosis and completion of first-line treatment between July 2014 and January 2016. Records were grouped by patient age, gender and primary tumor location. Results: Records (n = 2565) were collected from nine countries. Baseline characteristics varied between subgroups. Computed tomography was the most frequently used diagnostic technique. Symptoms at diagnosis included abdominal and/or mid-back pain (72% of patients) and weight loss (61.5%). Co-morbidities varied with patient age. Conclusion: Greater awareness of symptoms, diagnostic methods and co-morbidities present at PDAC diagnosis may support better patient management decisions.


SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A226-A227
Author(s):  
Nimra Alvi ◽  
Allison Clarke ◽  
Pallavi Patwari

Abstract Introduction Medical consensus advises against co-sleeping for infants to protect against SIDS, but co-sleeping in older children is often dismissed if not associated with caregiver distress. While some families may choose to co-sleep due to cultural, circumstantial, or psychosocial factors, this choice can also be due to medical concerns warranting greater caregiver attention. We aimed to explore characteristics of co-sleeping children referred for sleep disordered breathing and hypothesized that children with polysomnogram confirmed obstructive sleep apnea (OSA) would have higher caregiver-reported sleep disordered breathing symptoms as compared to children without confirmed OSA. Methods Caregivers who accompanied their child for polysomnogram were asked to complete a questionnaire that included sleep-related symptoms of sleep-disordered breathing (snoring, apnea, gasping/choking), restlessness, and parasomnias. Inclusion criteria are age &gt;1.0 years and &lt;18 years, baseline study for sleep disordered breathing, and completed questionnaire. Retrospective chart review included demographic information, BMI, co-morbid conditions, and polysomnogram results. The cohort was divided into 2 groups based on polysomnogram confirmed diagnosis of “snoring” or “OSA”. Results Of 75 co-sleeping children, 27 (36%) had a diagnosis of snoring and 48 (64%) of OSA. The cohort was similar in age, gender, and insurance type for snoring and OSA groups (Average 5.7 +/- 2.6 yrs and 5.4 +/- 2.9 yrs, respectively; 41% and 35% female, respectively; 44% and 50% Medicaid, respectively). Notable differences in the snoring and OSA groups were found with BMI z-score (1.6 +/- 4.6 and 1.0 +/- 1.5, respectively) and absence of co-morbid conditions (44% and 63%, respectively). Regarding reported symptoms, the snoring-group compared to OSA-group had lower report of gasping/choking (19% vs 29%), bedwetting (7% vs 13%), and nightmares (7% vs 15%); and had higher report of movement (74% vs 60%), kicking (48% vs 31%), and startle/jump (30% vs 19%). Conclusion Although we predicted that co-sleeping would be associated with increased caregiver vigilance, witnessed sleep-disordered-breathing symptoms was only higher for report of gasping/choking and did not differ significantly for report of snoring and apnea in children with and without OSA. Interestingly, co-sleeping in children without OSA appeared to be more strongly related to report of sleep disruption in the form of restless sleep. Support (if any):


2009 ◽  
Vol 9 (1) ◽  
Author(s):  
Makiko Nakagawa ◽  
Chiaki Kawanishi ◽  
Tomoki Yamada ◽  
Yoko Iwamoto ◽  
Ryoko Sato ◽  
...  

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Cindy L. Lamerson ◽  
Kristina Eaton ◽  
Joel L. Sax ◽  
Mohammed Kashani-Sabet

This study examined whether patient-identified melanomas were more advanced than dermatologist-identified tumors at routine clinic visits, and whether a personal or family history of skin cancer was associated with patterns of detection. A retrospective chart review was performed on melanoma patients (N=201) in a private dermatology clinic. Variables included age, gender, pattern of detection (i.e., patient or a board certified dermatologist), personal or family history of skin cancer, skin type, and previous sun exposure, as well as tumor location and severity. Dermatologist-diagnosed melanomas were less invasive (P<0.0005), and more likely present on the chest, back, and legs (P<0.01). Conversely, patient-identified lesions were more likely to occur on the face, neck and scalp, be associated with younger patients, and a family history of melanoma, but not other types of skin cancer (P<0.01). In a post-hoc analysis examining these factors as predictors of tumor invasiveness, only diagnostic source was significant. Specifically, dermatologist-identified tumors were significantly less invasive than patient-identified tumors. Although age, family history, and tumor location played roles in the early detection of melanomas, the most important factor was diagnostic source. Thus, board-certified dermatologists play a key role in the early detection of malignant melanoma.


Cephalalgia ◽  
2019 ◽  
Vol 40 (7) ◽  
pp. 701-711 ◽  
Author(s):  
Haley McEvoy ◽  
David Borsook ◽  
Scott A Holmes

Background Often concussion/mTBI triggers a chronic headache syndrome called persistent post-traumatic headache (P-PTH) that can last from months to years post-injury, and produce significant disruption of childhood education, social interaction and development. Although prevalent and highly disabling, P-PTH is underrepresented in headache and pain research and lacks clear definition and pathophysiology. Clinical presentation of P-PTH frequently resembles that of other headache disorders, like migraine, yet the pathophysiological mechanisms are distinct and not fully understood, making the disorder difficult to treat in the clinical setting. Methods In a retrospective analysis of 1506 pediatric patients attending Boston Children’s Hospital clinics, demographic trends, symptom features, and the influence of sex on clinical presentation of PTH are presented. We compare clinical characteristics of P-PTH with a published cohort of migraine patients to evaluate the clinical features that are unique to P-PTH. Results Findings show that despite equivalent representation of sex in the clinic, P-PTH is expressed more in females than males and is weighted towards somatic symptoms. Relative to migraine, PTH is less associated with a family history of headache. Conclusions The ability to identify persons with PTH can help manage risk factors and identify persons likely to develop persistent post-concussion symptoms.


Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 4565-4565
Author(s):  
Joseph Mikhael ◽  
Alan Tinmouth ◽  
Tazmin Merali ◽  
Mo Amin ◽  
Wendy Lam

Abstract Background: In clinical practice there is little consensus on treating patients with chronic immune thrombocytopenic purpura (ITP) beyond first line therapy with steroids. Objectives: Describe the demographic and disease characteristics of adult ITP patients who receive treatment; Obtain the treatment approach for patients with ITP beyond first line treatment with steroids, with an emphasis on splenectomy; and Evaluate adverse bleeding outcomes associated with ITP. Methods: A retrospective chart review of ITP patients after initial therapy with steroids was conducted. Ten physicians (oncologists and hematologists) were recruited from across Canada and each physician provided at least 5 ITP cases for review. A total of 51 cases were reviewed and patients (&gt; 18 years old) were required to have had more than 1 course of steroids as treatment to be eligible. Results: The average age of patients at diagnosis was 42 (range 3 to 82 years); 37 (73%) of the patients were female, and 37 (73%) were Caucasian. The median platelet count upon presentation was 5×109/L. Median lines of therapy after initial therapy was 3 (range 0 to 6). Second line therapies varied, but most commonly patients underwent splenectomy (43%), followed by continued steroid treatment (16%), steroids plus IV Ig (16%), IV Ig alone (14%), immunosuppressant alone (2%), and anti-D plus steroids (2%). Of the patients reviewed, 40 (78%) eventually underwent splenectomy. Of the 40 splenectomized patients, 27 were splenectomized within the first year of diagnosis and 35 underwent splenectomy during the first 5 years. In addition, 62 of the splenectomies were laparoscopic, and the median hospital stay for all procedures was 5 days (range 1 to 60 days). Immediate failure of splenectomy occurred in 18% of patients, and the one- and five- year relapse/failure rates (defined as platelet count &lt; 30×109/L) were 38% and 55%, respectively. Other therapies following splenectomy included IV Ig, azathioprine, cyclosporine, danazol, mycophenolate, rituximab, vincristine, cyclophosphamide, and anti-D. Only 6% of IV Ig use was for chronic maintenance therapy and 74% of use was for urgent therapy. A total of 61 bleeding events occurred, of which 10 were major (upper GI, mouth, rectal, and nose). Major bleeding events required hospitalization of the patient with an average length of stay of 5 days (range 2 to 14 days). Conclusions: Notwithstanding several limitations, the retrospective chart review suggests that there is wide variation in long-term therapy for patients with chronic ITP in Canada. Splenectomy was the most widely used second line therapy, although 18% of the patients were non-responders and the five-year relapse/failure rate was 55%.


Vascular ◽  
2015 ◽  
Vol 24 (1) ◽  
pp. 64-69
Author(s):  
Anand S Brahmandam ◽  
Kirstyn Brownson ◽  
Laura Skrip ◽  
Terri Parker ◽  
Jeffrey Indes ◽  
...  

The treatment of isolated calf vein thrombosis remains widely debated. This study highlights the characteristics of isolated calf vein thrombosis in cancer patients and compares to isolated calf vein thrombosis in patients without history of cancer. Between July 2013 and April 2014, a retrospective chart review of consecutive patients with isolated calf vein thrombosis was performed recording patient risk factors, ultrasound characteristics of the thrombus, treatment modalities, long-term recurrence of venous-thromboembolism, incidence of bleeding, and mortality. Of 131 patients with isolated calf vein thrombosis, 53 (40.1%) had history of cancer. Isolated calf vein thrombosis occurred at an older age in cancer patients (66.7 vs 58.5 years, p = 0.004). The anatomical characteristics of isolated calf vein thrombosis on ultrasound were comparable in both groups. Isolated calf vein thrombosis in cancer patients was less likely to be treated with anticoagulation (60.4% vs 80.8%, p = 0.018). However, a trend towards higher incidence of bleeding after initiation of anticoagulation for isolated calf vein thrombosis in cancer patients (11.3% vs 6.4%, p = 0.351) was noted. Mortality in cancer patients was higher (37.7% vs 9.00%, p < 0.001) but was unrelated to isolated calf vein thrombosis or its treatment. In conclusion, the risks of bleeding seem to exceed the benefits of anticoagulation in approximately 50% of cancer patients with isolated calf vein thrombosis. The management of isolated calf vein thrombosis does not seem to impact the survival of cancer patients.


2010 ◽  
Vol 14 (5) ◽  
pp. 212-222 ◽  
Author(s):  
Sejal K. Shah ◽  
Andrew F. Alexis

Background: Few studies have investigated central centrifugal cicatricial alopecia (CCCA). Thus, our understanding of CCCA is largely based on anecdotal evidence. Objective: The purpose of this study was to investigate clinical characteristics and hair care practices in CCCA patients. Methods: We conducted a single-center retrospective chart review of patients with a clinicopathologic diagnosis of CCCA. Results: Medical records of 69 patients were reviewed. Of these, 97% were female. The mean ages at onset and presentation were 38.2 and 42.4 years, respectively. All subjects for whom hair care data were available had used a traumatic practice at least once, the most common being chemical relaxer. Family history data were available for 27 subjects (39%). Of these, 56% had a positive family history of hair loss. Seborrheic dermatitis was the leading concurrent diagnosis. Limitations: Limitations include lack of a control group, retrospective design, and selection bias. Conclusions: Our results confirm that CCCA primarily affects adult women of African descent. The majority of patients presented several years after onset, suggesting that efforts to encourage earlier diagnosis are warranted. Although the role of hair care remains unclear, traumatic practices were reported in all patients in our study for whom hair care was documented.


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