Vitamin supplementation in healthy patients: What does the evidence support?

This review, with handy tables, summarizes which vitamins offer proven benefits-and which don't.

Prescribe an SGLT2 inhibitor for heart failure in the absence of diabetes?

An RCT demonstrates that dapagliflozin produces better cardiovascular outcomes than placebo for heart failure patients with and without diabetes.

Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency.

We explored the benefits of triheptanoin as a treatment for Short Chain Enoyl Co-A Hydratase (SCEH) deficiency. One child with early onset, severe SCEH Deficiency was treated with triheptanoin, an odd chain oil with anapleurotic properties, for 37 months. Blood and urine chemistry safety measures, motor skills assessment, physical exam, and neurological assessment were monitored over a 27 month period.

Age at disease onset predicts likelihood and rapidity of growth failure among infants and young children with spinal muscular atrophy types 1 and 2.

Growth failure is nearly universal in spinal muscular atrophy type 1 and common in type 2, although acuity is often underappreciated at initial diagnosis. We reviewed 44 consecutive spinal muscular atrophy patients (28 type 1, 16 type 2) under 3 years at initial presentation. Growth failure was conventionally defined: weight below the fifth percentile or dropping 2 major percentiles over 6 months.

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.

Objective: To describe the natural history of clinical and laboratory features associated with the m.3243A>G mitochondrial DNA point mutation. Natural history data are needed to obtain prognostic information and for clinical trial planning.

Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy.

The relationship between body composition and function in spinal muscular atrophy (SMA) is poorly understood. 53 subjects with SMA were stratified by type and Hammersmith functional motor scale, expanded score into three cohorts: low-functioning non-ambulatory (type 2 with Hammersmith score < 12, n=19), high-functioning non-ambulatory (type 2 with Hammersmith score > or = 12 or non-ambulatory type 3, n=17), and Ambulatory (n=17). Lean and fat mass was estimated using dual-energy X-ray absorptiometry.

Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency.

Objective: Glucose transporter type 1 deficiency syndrome (Glut1-DS) is characterized clinically by acquired microcephaly, infantile-onset seizures, psychomotor retardation, choreoathetosis, dystonia, and ataxia. The laboratory signature is hypoglycorrhachia. The 5-hour oral glucose tolerance test (OGTT) was performed to assess cerebral function and systemic carbohydrate homeostasis during acute hyperglycemia, in the knowledge that GLUT1 is constitutively expressed ubiquitously and upregulated in the brain.

Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy.

Body composition is sparsely described in spinal muscular atrophy (SMA). Body (BMI, mass/height in m(2)), fat-free (FFMI, lean mass/height in m(2)) and fat (FMI, fat mass/height in m(2)) mass indexes were estimated in 25 children (aged 5-18) with SMA (2 type I, 13 type II, 10 type III) using dual-energy radiograph absorptiometry and anthropometric data referenced to gender and age-matched healthy children (NHANES III, New York Pediatric Rosetta Body Project). BMI was 50th percentile in 11 (44%) and 85th in 5 (20%).

Protean phenotypic features of the A3243G mitochondrial DNA mutation.

Objective: To describe the spectrum of clinical symptoms, signs, and laboratory features associated with A3243G, a mitochondrial DNA point mutation that affects multiple organs with varying severity, making the diagnosis and treatment of these patients complex.

Design: Cohort study.

Setting: Columbia University Medical Center.

Experience with the ketogenic diet in infants.

Objective: To evaluate the effectiveness, tolerability, and adverse effects of the ketogenic diet in infants with refractory epilepsy.

Methods: A retrospective review of 32 infants who had been treated with the ketogenic diet at a large metropolitan institution.

Results: Most infants (71%) were able to maintain strong ketosis.

The ketogenic diet: a practical guide for caregivers.

The ketogenic diet is a high-fat, low-carbohydrate diet that results in ketosis. It has been in use for nearly 70 years. Several modifications of the diet's original form, including the medium-chain triglyceride (MCT) diet, have been made in an attempt to overcome the obstacles of compliance and acceptance, which have been critical factors in determining its success.