Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1.

Dominant mutations in serine palmitoyltransferase long chain base subunit 1 (SPTLC1), a known cause of hereditary sensory autonomic neuropathy type 1 (HSAN1), are a recently identified cause of juvenile amyotrophic lateral sclerosis (JALS) with slow progression. We present a case of SPTLC1-associated JALS followed for 30 years. She was initially evaluated at age 22 years for upper extremity weakness. She experienced gradual decline in muscle strength with development of weakness and hyperreflexia in lower extremities and diffuse fasciculations in the upper extremities at 26 years. She lost independent ambulation at age 45 years. Pulmonary function declined from a forced vital capacity of 94% predicted at 27 years to 49% predicted at 47 years, and she was hospitalized twice for respiratory failure. To our knowledge, this is the longest documented follow-up period of JALS caused by a de novo pathogenic variant in SPTLC1.

Delayed anterior segment complications after the treatment of retinopathy of prematurity with laser photocoagulation.

Purpose: This retrospective cohort study presents a group of patients who underwent laser therapy for retinopathy of prematurity and presented with delayed anterior segment complications. Methods: The charts of infants treated with laser photocoagulation for retinopathy of prematurity at our institution between 1988 and 2020 were reviewed. The data extracted included demographics, treatment and clinical examination findings, and those on visual acuity, surgical procedures, and cycloplegic refraction. The inclusion criteria were documented anterior segment changes during the follow-up period. The exclusion criteria were any prior intraocular surgery or inflammation before signs of anterior segment complications developed. The exposure was laser photocoagulation for retinopathy of prematurity and the main outcomes were anterior segment complications, visual acuity, and cycloplegic refraction. Results: A total of 183 charts were reviewed. Sixteen eyes of nine patients (4.4%) met the inclusion criteria. The mean follow-up period after laser treatment was 15.9 years (range 10 years-26 years). The mean gestational age at birth was 24.6 weeks (range 23 weeks-27 weeks), and the mean age at first clinical documentation of anterior segment complications was 8.7 years (range 1 years-25 years). The complications included cataract (n = five patients/eight eyes) and glaucoma (n = three patients/five eyes), with the most frequent complication being band keratopathy (n = nine patients/15 eyes). A total of five out of 16 eyes underwent surgical procedures due to anterior segment complications. After treatment, visual acuity improved back to its baseline value in four out of five of the treated eyes, and improved, but not to its baseline value, in one out of five of the treated eyes. All the patients developed progressive high myopia over the follow-up period. Conclusions: Anterior segment complications after laser photocoagulation for retinopathy of prematurity may develop later in life. They affect patients' visual acuity and quality of life and may require treatment.

Nut Consumption and Renal Function Among Women With a History of Gestational Diabetes.

OBJECTIVE: Nut intake has been associated with reduced cardiometabolic risk, but few studies have examined its association with renal function. We examined associations between nut intake and renal function among women with previous gestational diabetes mellitus (GDM), a population with an increased risk for renal dysfunction. DESIGN AND METHODS: This study included 607 women with a history of GDM who participated in the Diabetes & Women's Health Study (2012-2014) follow-up clinical examination in Denmark. At the clinic, biospecimens were collected, and habitual intake of nuts (9 types) in the past year was assessed using a food frequency questionnaire. A total of 330 women free of major chronic diseases were included in the analysis. Total nut intake was classified as none (≤1 serving/month), monthly (2-3 servings/month), weekly (1-6 servings/week), and daily (≥1 serving/day). One serving was defined as 28 g. Renal function markers included estimated glomerular rate (eGFR) and urinary albumin-to-creatinine ratio (UACR), calculated based on plasma creatinine (mg/dL), and urinary albumin (mg/L), and creatinine (mg/dL) measurements, respectively. We estimated percent differences with 95% confidence intervals for each outcome by nut intake, adjusted for current body mass index, age, physical activity, energy intake, alcohol consumption, and vegetables intake. RESULTS: We observed a nonlinear association between total nut intake and UACR with lowest UACR values among women with weekly intake. Compared to women with weekly intake (n = 222), the adjusted UACR values were higher by 86% [95% confidence interval: 15%, 202%], 24% [-1%, 54%], and 117% [22%, 288%] among women with no (n = 13), monthly (n = 86), and daily (n = 9) intake, respectively. Compared to weekly consumers, daily nut consumers also had 9% [0%, 19%] significantly higher eGFR values, but eGFR values were similar among women with no and monthly intake. CONCLUSION: Moderate nut consumption may be beneficial to kidney health among women with prior GDM.

Dietary Patterns and Renal Health Outcomes in the General Population: A Review Focusing on Prospective Studies.

Healthy dietary patterns may promote kidney health and prevent adverse renal outcomes. Although reviews have summarized the findings from studies on dietary patterns for chronic kidney disease (CKD) management, less is known about dietary patterns for maintaining kidney health prior to CKD development. The current review summarized the results from observational studies from March 2009 to March 2019 investigating associations between dietary patterns and renal outcomes in the general population. The main renal outcome assessed was CKD (estimated glomerular filtration rate < 60 mL/min/1.73 m2). A total of twenty-six research articles met the inclusion criteria. Adherence to the Dietary Approaches to Stop Hypertension (DASH) and Mediterranean diets were significantly associated with a decreased risk of CKD in the majority of the studies. Furthermore, a posteriori "unhealthy" dietary patterns were associated with an increased risk of CKD. In conclusion, the findings from this review suggest that adherence to DASH and Mediterranean dietary patterns may be useful in promoting kidney health and preventing CKD in the general population. More studies, in particular among minorities, are warranted to investigate the role of diet, a potentially modifiable factor, in promoting kidney health.

Preconception and Prenatal Nutrition and Neurodevelopmental Disorders: A Systematic Review and Meta-Analysis.

Preconception and prenatal nutrition is critical for fetal brain development. However, its associations with offspring neurodevelopmental disorders are not well understood. This study aims to systematically review the associations of preconception and prenatal nutrition with offspring risk of neurodevelopmental disorders. We searched the PubMed and Embase for articles published through March 2019. Nutritional exposures included nutrient intake or status, food intake, or dietary patterns. Neurodevelopmental outcomes included autism spectrum disorders (ASD), attention deficit disorder-hyperactivity (ADHD) and intellectual disabilities. A total of 2169 articles were screened, and 20 articles on ASD and 17 on ADHD were eventually reviewed. We found an overall inverse association between maternal folic acid or multivitamin supplementation and children's risk of ASD; a meta-analysis including six prospective cohort studies estimated an RR of ASD of 0.64 (95% CI: 0.46, 0.90). Data on associations of other dietary factors and ASD, ADHD and related outcomes were inconclusive and warrant future investigation. Future studies should integrate comprehensive and more objective methods to quantify the nutritional exposures and explore alternative study design such as Mendelian randomization to evaluate potential causal effects.

Comprehensive history of 3-year and accelerated US medical school programs: a century in review.

Within the context of major medical education curricular reform ongoing in the United States, a subset of schools has re-initiated accelerated (3-year) medical education. It would be helpful for education leaders to pause and consider historical reasons such accelerated medical schools were started, and then abandoned, over the last century to proactively address important issues. As no comprehensive historical review of 3-year medical education exists, we examined all articles published on this topic since 1900. In general, US medical educational curricula began standardizing into 4-year programs in the early 1900s through contributions from William Osler, Abraham Flexner, and establishment of the American Medical Association (AMA) Council of Medical Education (CME). During WWII (1939-1945), accelerated 3-year medical school programs were initiated as a novel approach to address physician shortages; government incentives were used to boost the number of 3-year medical schools along with changed laws aiding licensure for graduates. However, this quick solution generated questions regarding physician competency, resulting in rallying cries for oversight of 3-year programs. Expansion of 3-year MD programs slowed from 1950s to 1960s until federal legislation was passed between the 1960s and the 1970s to support training healthcare workers. With renewed government financial incentives and stated desire to increase physician numbers and reduce student debt, a second rapid expansion of 3-year medical programs occurred in the 1970s. Later that decade, a second decline occurred in these programs, reportedly due to discontinuation of government funding, declining physician shortage, and dissatisfaction expressed by students and faculty. The current wave of 3-year MD programs, beginning in 2010, represents a 'third wave' for these programs. In this article, we identify common societal and pedagogical themes from historical experiences with accelerated medical education. These findings should provide today's medical education leaders a historical context from which to design and optimize accelerated medical education curricula.

Time-variable medical education innovation in context.

BACKGROUND: Medical education is undergoing robust curricular reform with several innovative models emerging. In this study, we examined current trends in 3-year Doctor of Medicine (MD) education and place these programs in context. METHODS: A survey was conducted among Deans of U.S. allopathic medical schools using structured phone interview regarding current availability of a 3-year MD pathway, and/or other variations in curricular innovation, within their institution. Those with 3-year programs answered additional questions. RESULTS: Data from 107 institutions were obtained (75% survey response rate). The most common variation in length of medical education today is the accelerated 3-year pathway. Since 2010, 9 medical schools have introduced parallel 3-year MD programs and another 4 are actively developing such programs. However, the total number of students in 3-year MD tracks remains small (n=199 students, or 0.2% total medical students). Family medicine and general internal medicine are the most common residency programs selected. Benefits of 3-year MD programs generally include reduction in student debt, stability of guaranteed residency positions, and potential for increasing physician numbers in rural/underserved areas. Drawbacks include concern about fatigue/burnout, difficulty in providing guaranteed residency positions, and additional expense in teaching 2 parallel curricula. Four vignettes of alternative innovative and relevant curricular initiatives are also presented in order to place 3-year MD programs in a broader context of medical education reform in the U.S. CONCLUSION: Three-year MD pathways are the most common accelerated alternative available at a small number of medical schools for highly selected students. Long-term evaluation of these programs will be essential to determine if these programs are meeting their goals (e.g., increasing the number of physicians in rural/underserved areas). Benefits and shortcomings of such programs should be carefully examined when considering this approach, or others described, as part of MD curricular options designed to individualize medical education.

Home-Based Palliative Care Program Relieves Chronic Pain in Kerala, India: Success Realized Through Patient, Family Narratives.

An estimated 1.5 billion people across the globe live with chronic pain, and an estimated 61 million people worldwide experience unrelieved serious health-related suffering. One-sixth of the global population lives in India, where approximately 10 million people endure unrelieved serious health-related suffering. The state of Kerala is home to Pallium India, one of the most sophisticated palliative care programs in the country. This private organization in Trivandrum provides palliative and hospice care to underresourced populations and emphasizes holistic pain treatment. The current project features the pain stories of six patients who received treatment from Pallium India. Basic patient demographic information was collected, and a Pallium India staff member who was fluent in Malayalam and English asked questions about each patient's pain experience. Pain narratives illustrate the substantial impact of Pallium India's home visit program and the role of total pain assessment in delivering high-quality palliative care.