Do patients actually understand? An evaluation of the informed consent process for endoscopic procedures in rural Uganda.

Introduction: Improving surgical access in low- and middle-income countries is vital for the 5 billion people who lack safe surgical care. Tailoring a culturally sensitive approach to consent is essential for patient comprehension and comfort, thereby alleviating the effects of resource constraints and advancing equitable care. This study examines the consenting process for endoscopy at Kyabirwa Surgical Center in Kyabirwa, Jinja, Uganda, to assess patients' knowledge and attitudes as a potential barrier to participating in endoscopic procedures.

Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation (:c.336dup).

Newborn screening identified a Chinese-Canadian infant who was positive for possible β-thalassemia (β-thal). Detailed family studies demonstrated that the proband was a compound heterozygote for the Chinese γ(γδβ)-thal deletion and a novel frameshift mutation within exon 3 (:c.336dup), and heterozygous for the Southeast Asian α-thal deletion (--/αα).

β-Thalassemia Caused by a Novel Nonsense Mutation [c.199A > T].

We report two hemoglobinopathy cases involving a novel β-thalassemia (β-thal) nonsense mutation, c.199A > T. One patient had Hb S/β-thal, and a second unrelated patient had Hb D-Punjab/β-thal.

Splice Acceptor Mutation [:c.93-2A > T] in a Patient with Hb S/β-Thalassemia.

We report a case of Hb S/β-thalassemia (Hb S/β-thal) in a patient who is a compound heterozygote for the Hb Sickle mutation (:c.20A > T) and a mutation of the canonical splice acceptor sequence of IVS1 (AG > TG, :c.93-2A > T).

Snare Tip Soft Coagulation vs Argon Plasma Coagulation vs No Margin Treatment After Large Nonpedunculated Colorectal Polyp Resection: a Randomized Trial.

Background & Aims: Thermal treatment of the defect margin after endoscopic mucosal resection (EMR) of large nonpedunculated colorectal lesions reduces the recurrence rate. Both snare tip soft coagulation (STSC) and argon plasma coagulation (APC) have been used for thermal margin treatment, but there are few data directly comparing STSC with APC for this indication.

Methods: We performed a randomized 3-arm trial in 9 US centers comparing STSC with APC with no margin treatment (control) of defects after EMR of colorectal nonpedunculated lesions ≥15 mm.

Remote training and teleproctoring in gastrointestinal endoscopy for practicing surgeon in rural Uganda.

Background: There is a significant, unmet need for endoscopy services in rural Uganda. With limited diagnostic and therapeutic interventions, patients in these communities often present with advanced disease. Practicing surgeons must continually adapt to new techniques to meet the needs of their patient populations.

Remote training in flexible gastrointestinal endoscopy.

Video 1Remote training in flexible GI endoscopy.

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.

Accurate and consistent interpretation of sequence variants is integral to the delivery of safe and reliable diagnostic genetic services. To standardize the interpretation process, in 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published a joint guideline based on a set of shared standards for the classification of variants in Mendelian diseases. The generality of these standards and their subjective interpretation between laboratories has prompted efforts to reduce discordance of variant classifications, with a focus on the expert specification of the ACMG/AMP guidelines for individual genes or diseases.

Outcomes of haemoglobin Bart's hydrops fetalis following intrauterine transfusion in Ontario, Canada.

Objectives: With improved access to intrauterine transfusion (IUT), more fetuses with haemoglobin Bart's hydrops fetalis (HBHF; homozygous α-thalassaemia) will survive.

Design: To evaluate the long-term outcome of affected fetuses with and without IUT in Ontario, Canada, we retrospectively collected data on IUTs and pregnancy outcomes in all cases of HBHF, from 1989 to 2014. Clinical outcome and neurocognitive profiles of long-term survivors were also collected and compared with data from 24 patients with transfusion-dependent β-thalassaemia (TDT-β).

Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TT>TT); : c.258T>G].

We report the case of a 61-year-old Canadian male of Maltese descent investigated for unexplained polycythemia. Decreased p50 suggested the presence of a high oxygen affinity hemoglobin (Hb) variant. Molecular genetic testing demonstrated that he carries a novel missense mutation (: c.

An evaluation of genetic causes and environmental risks for bilateral optic atrophy.

Purpose: To assess the clinical utility of next-generation sequencing (NGS) for the diagnosis of patients with optic atrophy (OA).

Design: Retrospective cohort study.

Methods: 97 patients were referred to the McMaster University Medical Center (Hamilton, Ontario) for evaluation of bilateral OA.

A Novel Human β-Globin Gene Variant [Hb London-Ontario, : c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait.

We present the case of a novel β-globin gene variant associated with early-onset transfusion-dependent anemia compatible with a β-thalassemia major (β-TM) phenotype in a patient of British descent. As a child, our patient developed chronic symptomatic anemia with hemoglobin (Hb) nadirs of 3.0 g/dL.

Multiplex Allele-Specific PCR for Simultaneous Detection of H63D and C282Y HFE Mutations in Hereditary Hemochromatosis.

Background: Hereditary hemochromatosis (HH) is characterized by excessive iron absorption in the intestine, which can lead to failure of vital organs such as the heart, liver, and pancreas. Among northern Europeans, HH is most often associated with the C282Y and H63D mutations of the HFE gene. We developed a test that allows screening for both mutations in a single reaction.

Hepatoblastoma in a Child With Early-onset Cirrhosis.

Hepatoblastoma is the most common hepatic malignancy of childhood with known genetic predispositions and perinatal risk factors, with rare case reports occurring in the setting of cirrhosis. This case describes a young patient with cirrhosis attributed to early-onset hereditary hemochromatosis who was diagnosed with hepatoblastoma with uncommon histologic findings, evidence of chemotherapy resistance who ultimately succumbed to her disease. It is important to consider diagnoses beyond hepatocellular carcinoma in this scenario and consider early biopsy.

Characterization of Two Novel Deletions Involving the 5' Region of the β-Globin Gene.

We report two novel β-thalassemia (β-thal) deletions involving the 5' region of the β-globin gene (HBB). The first deletion spans 538 bp and removes the β-globin promoter, 5' untranslated region (5'UTR) and most of exon 1. This deletion was identified in a 3-year-old Vietnamese boy with non transfusion dependent Hb E (HBB: c.