DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified.

DNAJC12 deficiency is a recently described inherited metabolic disorder resulting in hyperphenylalaninemia and neurotransmitter deficiency. The effect of treatment on the prevention of neurological manifestations in this newly reported and heterogenous disorder is not fully understood, and the optimal treatment strategy remains to be elucidated. The global or regional incidence of the disease is yet to be estimated.

Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

Newborn screening (NBS) is an important public health program that aims to identify pre-symptomatic healthy babies that will develop significant disease if left undiagnosed and untreated. The number of conditions being screened globally is expanding rapidly in parallel with advances in technology, diagnosis, and treatment availability for these conditions. In Hong Kong, NBS for inborn errors of metabolism (NBSIEM) began as a pilot program in October 2015 and was implemented to all birthing hospitals within the public healthcare system in phases, with completion in October 2020.

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.

In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS) of six conditions for inborn errors of metabolism: citrullinemia type II (MIM #605814), systemic primary carnitine deficiency (MIM #212140), glutaric acidemia type I (MIM #231670), beta-ketothiolase deficiency (#203750), holocarboxylase synthetase deficiency (MIM #253270) and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (MIM # 246450). The custom-designed NGS panel can detect sequence variants in the relevant genes and also specifically screen for the presence of the hotspot variant IVS16ins3kb of by the copy number variant calling algorithm. Genetic second-tier tests were performed for 1.

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.

Carbamoyl phosphate synthetase 1 (CPS1) and ornithine transcarbamylase (OTC) deficiencies are rare urea cycle disorders, which can lead to life-threatening hyperammonemia. Liver transplantation (LT) provides a cure and offers an alternative to medical treatment and life-long dietary restrictions with permanent impending risk of hyperammonemia. Nevertheless, in most patients, metabolic aberrations persist after LT, especially low plasma citrulline levels, with questionable clinical impact.

Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong.

Dried blood spot (DBS) cards from newborn screening (NBS) programs represent a wealth of biological data. They can be stored easily for a long time, have the potential to support medical and public health research, and have secondary usages such as quality assurance and forensics, making it the ideal candidate for bio-banking. However, worldwide policies vary with regard to the duration of storage of DBS cards and how it can be used.

Development of a keyword library for capturing PRO-CTCAE-focused "symptom talk" in oncology conversations.

Objectives: As computational methods for detecting symptoms can help us better attend to patient suffering, the objectives of this study were to develop and evaluate the performance of a natural language processing keyword library for detecting symptom talk, and to describe symptom communication within our dataset to generate insights for future model building.

Materials And Methods: This was a secondary analysis of 121 transcribed outpatient oncology conversations from the Communication in Oncologist-Patient Encounters trial. Through an iterative process of identifying symptom expressions via inductive and deductive techniques, we generated a library of keywords relevant to the Patient-Reported Outcome version of the Common Terminology Criteria for Adverse Events (PRO-CTCAE) framework from 90 conversations, and tested the library on 31 additional transcripts.

Delirium and Healthcare Utilization in Patients Undergoing Hematopoietic Stem Cell Transplantation.

Delirium, a common neuropsychiatric syndrome among hospitalized patients, has been associated with significant morbidity and mortality in patients undergoing hematopoietic stem cell transplantation (HSCT). Although delirium is often reversible with prompt diagnosis and appropriate management, timely screening of hospitalized patients, including HSCT recipients at risk for delirium, is lacking. The association between delirium symptoms and healthcare utilization among HSCT recipients is also limited.

Associations Between Family Member Involvement and Outcomes of Patients Admitted to the Intensive Care Unit: Retrospective Cohort Study.

Background: Little is known about family member involvement, by relationship status, for patients treated in the intensive care unit (ICU).

Objective: Using documentation of family interactions in clinical notes, we examined associations between child and spousal involvement and ICU patient outcomes, including goals of care conversations (GOCCs), limitations in life-sustaining therapy (LLST), and 3-month mortality.

Methods: Using a retrospective cohort design, the study included a total of 858 adult patients treated between 2008 and 2012 in the medical ICU at a tertiary care center in northeastern United States.

Association of an Advance Care Planning Video and Communication Intervention With Documentation of Advance Care Planning Among Older Adults: A Nonrandomized Controlled Trial.

Importance: COVID-19 has disproportionately killed older adults and racial and ethnic minority individuals, raising questions about the relevance of advance care planning (ACP) in this population. Video decision aids and communication skills training offer scalable delivery models.

Objective: To assess whether ACP video decision aids and a clinician communication intervention improved the rate of ACP documentation during an evolving pandemic, with a focus on African American and Hispanic patients.

Natural language processing for automated surveillance of intraoperative neuromonitoring in spine surgery.

We sought to develop natural language processing (NLP) methods for automated detection and characterization of neuromonitoring documentation from free-text operative reports in patients undergoing spine surgery. We included 13,718 patients who received spine surgery at two tertiary academic medical centers between December 2000 - December 2020. We first validated a rule-based NLP method for identifying operative reports containing neuromonitoring documentation, comparing performance to standard administrative codes.