Haiyan Jiang

University Health Network | UHN · Biostatistics

Because antiretroviral therapy (ART) is allowing people living with human immunodeficiency virus (PLWH) to survive longer, they are developing more age-related comorbidities. We evaluated the effects of age and gender on the burden of age-related comorbidities among PLWH. In this retrospective real-world study, de-identified data were extracted fro...

Objective Organ transplant recipients (OTR) have an increased risk of developing post-transplant malignancies with lung cancer being one of the most common. In this retrospective study, we investigated incidence, use of systemic therapy and outcomes from lung cancer in OTR. Materials and Methods: Patients diagnosed with lung cancer following a soli...

Purpose The treatment of locally advanced cervical cancer with definitive chemoradiation (CRT) is associated with vaginal toxicity and altered sexual satisfaction. This prospective study assessed patient-reported sexual adjustment, vaginal dosimetry, and physician-reported vaginal toxicity in patients with cervical cancer treated with CRT and MR-gu...

Background Cisplatin-based neoadjuvant chemotherapy (NAC) before cystectomy improves survival in muscle-invasive urothelial bladder cancer (MIBC). The use of NAC before chemoradiation (CRT) has been limited, as these patients are often elderly, frail, and ineligible for cisplatin. However, the role of NAC in fit, cisplatin-eligible patients who opt...

412 Background: NMIBC has a highly variable clinical behavior not adequately predicted by histological grade or clinical parameters. Some are indolent; others quickly progress to MIBC. Discrepancies between phenotype and genotype is compounded further by interobserver variability in pathological grading. There is an unmet need to improve the predic...

Objective: To investigate the ability of preoperative CA125 and post-surgical CA125 changes to predict outcomes among patients with high-grade serous ovarian cancer (HGSC). Methods: The present retrospective cohort study included patients with HGSC who underwent surgery between January 1, 2003, and December 31, 2011 at Princess Margaret Cancer C...

Purpose Active surveillance (AS) is a common management strategy for presumed indolent prostate cancer. However, limited evidence suggest it does not compromise outcomes in those who progress and subsequently undergo radical treatment. We compared outcomes in men receiving definitive radiotherapy following AS with those in a risk-matched cohort und...

Introduction: To reduce unnecessary prostate biopsies while using novel tests judiciously, we created a tool to predict the probability of clinically significant prostate cancer (CSPC) vs. low-risk prostate cancer or negative biopsy (i.e., when intervention is likely not needed) among men undergoing initial or repeat biopsy. Methods: Separate mo...

Purpose: The dose delivered to the most exposed 2 cm(3) [Formula: see text] of the rectum and bladder is predictive of late rectal and bladder toxicity in cervix cancer patients. We investigated the predictive value of intermediate doses to the rectum and bladder for late rectal/bladder toxicity after MRI-guided brachytherapy for patients with loc...

Objective: To quantify distress in men treated with radical prostatectomy (RP) or active surveillance (AS). Methods: In a retrospective cross-sectional design, we assessed men via questionnaire and investigator-designed questions. Results: RP patients worried more about cancer spread than AS patients. RP patients were influenced by friends for...

Background: Patients with advanced biliary tract cancer (BTC) are often treated with palliative chemotherapy (PC). Standard PC since 2010 is a cisplatin/gemcitabine doublet, with median overall survival (OS) of 11.7 months from the ABC-02 trial. Prior to this, our institutional standard was gemcitabine and fluoropyrimidine. The ABC-02 study used 8...

Purpose Mediastinal radiotherapy (RT) for Hodgkin Lymphoma (HL) is associated with late cardiotoxicity, but there are limited data to indicate which dosimetric parameters are most valuable for predicting this risk. This study investigated which whole heart dosimetric measurements provide the most information regarding late cardiotoxicity, and wheth...

66Background: Low dose rate seed brachytherapy is an established treatment modality for low risk prostate cancer (CaP). Herein, we report long term biochemical control and urinary toxicity from a single institution. Methods: Data from a prospectively-collected institutional database was used, completed with retrospective chart reviews. All patients...

Background: Radiotherapy with procarbazine, lomustine, and vincristine improves overall survival (OS) in patients with 1p19q co-deleted anaplastic oligodendroglioma/anaplastic oligoastrocytoma. Methods: This retrospective analysis investigated outcomes in patients with 1p19q co-deleted/partially deleted oligodendroglioma, oligoastrocytoma, anapl...

Background: Advanced high-grade serous ovarian carcinoma (HGSC) is commonly treated with surgery and chemotherapy. We investigated the survival of patients treated with primary or interval surgery at different times following neoadjuvant chemotherapy. Their survival was compared with that of patients treated with primary cytoreductive surgery and...

Aim: The object of the study was to evaluate the association between the neutrophil-to-lymphocyte (NLR) ratio and the occurrence of perioperative complications in patients undergoing colorectal surgery. Method: A retrospective cohort study was conducted of patients who underwent resection for suspected or confirmed colorectal cancer (CRC) from 2...

Purpose: Incident investigation, reporting, and learning are core elements of quality improvement in radiation treatment. This report describes the development of a Canadian National System for Incident Reporting in Radiation Treatment (NSIR-RT), focusing especially on the taxonomy. Methods and materials: The NSIR-RT was developed to provide a f...

Purpose: To investigate whether volumetrically derived apparent diffusion coefficient (ADC) from pretreatment diffusionweighted (DW) magnetic resonance (MR) imaging is associated with disease recurrence in women with locally advanced cervical cancer treated with chemotherapy and radiation therapy. Materials and Methods: An ethics board-approved, re...

Current risk stratification tools for patients with colorectal cancer (CRC) rely on final surgical pathology but may be improved with the addition of novel serum biomarkers. The objective of this study was to evaluate the utility of preoperative NLR and PLR in predicting long-term oncologic outcomes in patients with operable CRC. All patients who u...

Purpose: Cancer-related fatigue (CRF) is the most prevalent and distressing symptom among cancer patients and survivors. However, research on its prevalence and related disability in the post-treatment survivorship period remains limited. We sought to describe the occurrence of CRF within three time points in the post-treatment survivorship trajec...

Radiotherapy with procarbazine, lomustine and vincristine improves overall survival (OS) in patients with 1p19q codeleted anaplastic oligodendroglioma (AOD)/anaplastic oligoastrocytoma (AOA). This retrospective study investigates outcomes with upfront temozolomide (TMZ) deferring radiotherapy in 1p19q codeleted/partially deleted AOD, AOA, oligodend...

Numerous studies have reported the feasibility and safety of autologous SCT (ASCT) in patients with multiple myeloma (MM) and mild to moderate renal impairment, but there are limited data in dialysis-dependent patients. In this retrospective study, we reviewed the toxicities and efficacy outcomes of 33 MM patients with dialysis-dependent renal fail...

Gastric cancer is among the leading causes of cancer-related deaths worldwide. While heritable forms of gastric cancer are relatively rare, identifying the genes responsible for such cases can inform diagnosis and treatment for both hereditary and sporadic cases of gastric cancer. Mutations in the E-cadherin gene, CDH1, account for 40% of the most...

Aim: Radiotherapy with procarbazine, lomustine and vincristine improves overall survival (OS) in patients with 1p19q codeleted anaplastic oligodendroglioma (AOD)/anaplastic oligoastrocytoma (AOA). This retrospective review investigates outcomes with upfront temozolomide (TMZ) alone in 1p19q codeleted/partially deleted AOD, AOA, oligodendroglioma (O...

Aim: Radiotherapy with procarbazine, lomustine and vincristine improves overall survival (OS) in patients with 1p19q codeleted anaplastic oligodendroglioma (AOD)/anaplastic oligoastrocytoma (AOA). This retrospective review investigates outcomes with upfront temozolomide (TMZ) alone in 1p19q codeleted/partially deleted AOD, AOA, oligodendroglioma (O...

To evaluate quality of life (QoL), an important outcome owing to poor long-term survival, after stereotactic body radiation therapy (SBRT) to the liver. Patients (n=222) with hepatocellular carcinoma (HCC), liver metastases, or intrahepatic cholangiocarcinoma and Child-Pugh A liver function received 24-60 Gy of 6-fraction image-guided SBRT. Prospec...

Purpose: To report outcomes in patients with Child-Pugh B or C (CP B/C) hepatocellular carcinoma (HCC) treated with stereotactic body radiotherapy (SBRT). Methods and materials: A prospective study of SBRT was developed for patients with CP B7 or B8 unresectable HCC, <10 cm. Selected ineligible patients (e.g. CP>B8, >10 cm) treated off-study fro...

To identify the health-related quality of life (HRQoL) domains that radical prostatectomy (RP) impacts most negatively and to define the recovery of these domains over 30 months of observation. A total of 1,200 RP patients completed the Patient-Oriented Prostate Utility Scale-Psychometric (PORPUS-P; range 0-100, higher is better), a prostate cancer...

Background: Has the adoption of intensity-modulated radiotherapy (IMRT) for hypopharyngeal squamous cell carcinomas (HSCC) improved outcomes? Methods: We compared across 3D-RT and IMRT in all HSCC patients treated with curative intent radiation or chemoradiation (CRT) from January 1, 2000 to Feb 28, 2010. Loco-regional control (LRC), overall surviv...

With standard treatment for glioblastoma (GBM) consisting of surgery followed by radiotherapy (RT) with concurrent and adjuvant temozolomide (TMZ), median survival is ~14.6 months. This is not as informative to patients who have survived for some time. Conditional probability of survival may offer more relevant survival estimates. Outcomes/conditio...

Patients with progressive glioblastoma (GBM) have a poor prognosis. Neutrophil/lymphocyte ratio (NLR), a host inflammatory marker, is prognostic in several solid tumors. The prognostic impact of either NLR, or time from first surgery for GBM to first progression (TTP), in patients undergoing second surgery, has not been assessed. Patients undergoin...

To determine the efficacy of induction gemcitabine followed by biweekly gemcitabine concurrent with radiotherapy for locally advanced pancreatic cancer. Between March 2001 and August 2009, 90 patients with unresectable (78) or resected (12) pancreatic cancer were treated with a standard treatment policy of induction gemcitabine (seven doses of week...

Stereotactic radiosurgery (SRS) is offered to patients for recurrent brain metastases after prior brain radiation therapy (RT), but few studies have evaluated the efficacy of salvage SRS or factors to consider in selecting patients for this treatment. This study reports overall survival (OS), intracranial progression-free survival (PFS), and local...

Purpose To report outcomes in patients with Child-Pugh B or C (CP B/C) hepatocellular carcinoma (HCC) treated with stereotactic body radiotherapy (SBRT). Methods and materials A prospective study of SBRT was developed for patients with CP B7 or B8 unresectable HCC, <10 cm. Selected ineligible patients (e.g. CP > B8, >10 cm) treated off-study from...

To evaluate the feasibility and response of liver radiotherapy (RT) in improving symptoms and quality of life in patients with hepatocellular carcinoma (HCC) or liver metastases (LM). Eligible patients had HCC or LM, unsuitable for or refractory to standard therapies, with an index symptom of pain, abdominal discomfort, nausea, or fatigue. The Brie...

Pediatric intracranial calcification may be caused by inherited or acquired factors. We describe the identification of a novel rearrangement in which a downstream pseudogene translocates into exon 9 of OCLN, resulting in band-like brain calcification and advanced chronic kidney disease in early childhood. SNP genotyping and read-depth variation fro...

Involvement of the central nervous system (CNS) in multiple myeloma (MM) is a rare complication, with reported survival of <6 months. This report describes 37 MM patients with leptomeningeal and/or parenchymal brain involvement treated at our institution and identifies factors associated with long-term survival. From January 1999 to December 2010,...

e19031 Background: The TORCH (“Tarceva or Chemotherapy”) randomized phase III trial demonstrated that first-line erlotinib compared to cisplatin/gemcitabine in unselected advanced NSCLC patients yielded inferior survival, but no major differences in global quality of life. We determined the incremental costs and utility between arms, including in t...

Dexamethasone ± thalidomide with infusion of cisplatin, doxorubicin, cyclophosphamide, and etoposide [D(T)PACE] is generally reserved as salvage therapy for aggressive multiple myeloma (MM) or plasma cell leukaemia (PCL) resistant to conventional therapies. The efficacy and durability of this potentially toxic regimen in this setting is unclear. We...

2937 Mutation of p53, a tumor suppressor protein, is relatively rare (∼10% in newly diagnosed patients) in multiple myeloma (MM). However, p53 mutations/deletions are important risk factors for predicting the resistant to chemotherapy and no treatment is currently available for this subgroup of patients. MIRA-1, a novel class of small molecules wit...

Neoadjuvant chemoradiotherapy (CRT) before surgery results in a pathological complete response (pCR) rate in about 1/3 of the patients, which is correlated with survival. It was hypothesized that volumetric tumor response to CRT would correlate with outcomes. Patients who completed trimodality therapy, where planning, pre-, and post-CRT computed to...

9131 Background: Cancer-related fatigue (CRF) is the most prevalent and distressing cancer-related symptom and has a greater negative impact on patients' daily activities and quality of life than other cancer-related symptoms, including pain and depression. However, the prevalence and severity of persistent CRF and related disability in the post-tr...

Nanophthalmos is a rare genetic ocular disorder in which the eyes of affected individuals are abnormally small. Patients suffer from severe hyperopia as a result of their markedly reduced axial lengths, but otherwise are capable of seeing well unlike other more general forms of microphthalmia. To date one gene for nanophthalmos has been identified,...

Meier-Gorlin syndrome is a rare autosomal recessive genetic condition whose primary clinical hallmarks include small stature, small external ears and small or absent patellae. Using marker-assisted mapping in multiple families from a founder population and traditional coding exon sequencing of positional candidate genes, we identified three differe...

LRSAM1 PCR primers and conditions. 95C for 2 min. Followed by 25 cycles of 95C for 30 sec, the appropriate annealing temperature (listed in table above) for 30 sec, and 72C for 1 min. Finish with 72C for 5 min. (0.06 MB DOC)

Nerve conduction study of proband. Normal values in brackets. Abbreviations: NR (not recordable), EDB (extensor digitorum brevis), AH (abductor hallucis), APB (abductor pollicus brevis), ADM (abductor digiti minimi). (0.02 MB DOC)

Charcot-Marie-Tooth disease (CMT) represents a family of related sensorimotor neuropathies. We studied a large family from a rural eastern Canadian community, with multiple individuals suffering from a condition clinically most similar to autosomal recessive axonal CMT, or AR-CMT2. Homozygosity mapping with high-density SNP genotyping of six affect...

Primary microcephaly is a rare condition in which brain size is substantially diminished without other syndromic abnormalities. Seven autosomal loci have been genetically mapped, and the underlying causal genes have been identified for MCPH1, MCPH3, MCPH5, MCPH6, and MCPH7 but not for MCPH2 or MCPH4. The known genes play roles in mitosis and cell d...

We ascertained two families in Eastern Canada segregating a form of ataxia consistent with a recessive mode of inheritance. We performed a whole genome scan using dense SNP genotyping, and despite an absence of shared homozygosity in the families we defined linkage to a small region on chromosome 13. Direct DNA resequencing was employed to screen b...

Autosomal-recessive cutis laxa type 2 (ARCL2) is a multisystem disorder characterized by the appearance of premature aging, wrinkled and lax skin, joint laxity, and a general developmental delay. Cutis laxa includes a family of clinically overlapping conditions with confusing nomenclature, generally requiring molecular analyses for definitive diagn...

The sideroblastic anemias are a heterogeneous group of congenital and acquired hematological disorders whose morphological hallmark is the presence of ringed sideroblasts--bone marrow erythroid precursors containing pathologic iron deposits within mitochondria. Here, by positional cloning, we define a previously unknown form of autosomal recessive...

Background: In families segregating a monogenic genetic disorder with a single disease gene introduction, patients share a mutation-carrying chromosomal interval with identity-by-descent (IBD). Such a shared chromosomal interval or haplotype, surrounding the actual pathogenic mutation, is typically detected and defined by multipoint linkage and ph...

Figure S3. The multiple structural alignment of the six domains in the Periplasmic domain of cytochrome c oxidase subunit II family. Residues are color-coded from blue to red according the sequence conservation. Blue: most conserved; Red: most variable. The sequence conservation score of a residue is a scaled value of the number of residues aligned...

Figure S1. Sequence based phylogenetic tree of the β-Lactamase/D-ala carboxypeptidase family calculated with Phyml.

Figure S2. Another example of the nested insertions detected in the domain d1m56b1 within the Periplasmic domain of cytochrome c oxidase subunit II family (SCOP family 49541). A. The structure-based phylogenetic tree. B. The variable region of domain d1m56b1 with insert rank of 3. Inserts are color coded according the insert rank. C. The superimpos...

Custom microsatellite genotyping marker primer data. (0.17 MB DOC)

Mutation detection sequencing traces for affected patients from each of the five families with SCCD, following fluorescent sequencing on ABI 377 or 3700 electrophoresis instruments and alignment to annotated genomic sequences containing the UBIAD1 gene using MutationSurveyor. Each panel has 7 lines generated by the software: from top to bottom are...

Multiple sequence alignment of distant orthologs of Human UBIAD1 peptide sequence selected from Eukaryota, Bacteria, and Archaea. The alignment was used to study the sequence conservation and generate the sequence logo. (4.73 MB TIF)

Primer sequences for mutation detection amplification of UBIAD1 coding exons (two amplicons for each exon). (0.03 MB DOC)

Multiple sequence alignment of the Eukaryota orthologs of Human UBIAD1 peptide sequence. The alignment was used to study the sequence conservation and predict the effects of mutations. (3.89 MB TIF)

In protein evolution, the mechanism of the emergence of novel protein domain is still an open question. The incremental growth of protein variable regions, which was produced by stochastic insertions, has the potential to generate large and complex sub-structures. In this study, a deterministic methodology is proposed to reconstruct phylogenies fro...

Schnyder crystalline corneal dystrophy (SCCD, MIM 121800) is a rare autosomal dominant disease characterized by progressive opacification of the cornea resulting from the local accumulation of lipids, and associated in some cases with systemic dyslipidemia. Although previous studies of the genetics of SCCD have localized the defective gene to a 1.5...