29 research outputs found
A Cooking-Centric Approach to Diabetes Education Through Modifying Ethnic Recipes
Dietary behaviors influence the progression of metabolic diseases. This pilot study
investigated the effects of culturally-tailored diabetes workshops on the cooking/eating behaviors and
metabolic outcomes of diabetes patients in Iran. Popular ethnic recipes were modified to be healthier
using seven cooking techniques/ingredient substitutions. This classification of cooking methods into
seven categories streamlined and simplified cooking instructions. A group of 38 adults with diabetes
were randomly selected to attend a two-part series of 120-minute, cooking-centric workshops in July
2012. The modified recipes were taught using PowerPoint presentations, cooking videos, a pamphlet,
and a cookbook. Follow-up data on participants’ clinical measurements were collected in July 2014.
The short and long-term effects of the intervention on participants’ cooking/eating behaviors were
evaluated by self-reported questionnaires and clinical measurements, respectively. Within 16 days,
there was a 37-53% increase in people using healthy cooking techniques (p <0.001). Fruit and
vegetable consumption increased due to incorporation of those ingredients into taught recipes.
Additionally, participants' average fasting blood glucose (FBG) decreased (p <0.001). After two
years, participants’ follow-up data (n=23) on FBG and hemoglobin A1c (HbA1c) showed
improvements when compared to the control group. Results suggest teaching these seven-streamlined
cooking techniques to modify local recipes may enable people with diabetes to improve their FBG and
HbA1c
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with TOR1A-AMC5 have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has not been conducted. Here, we assess the clinical, radiological and molecular characteristics of 57 individuals from 40 families with biallelic variants in TOR1A. Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances. Facial dysmorphism was an integral part of the phenotype, with key features being a broad/full nasal tip, narrowing of the forehead and full cheeks. Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset, the presentation was consistent with fetal akinesia deformation sequence with severe intrauterine abnormalities. Survival was 71% with higher mortality in males. Death occurred at a median age of 1.2 months (1 week - 9 years) due to respiratory failure, cardiac arrest, or sepsis. Analysis of brain MRI studies identified non-specific neuroimaging features, including a hypoplastic corpus callosum (72%), foci of signal abnormality in the subcortical and periventricular white matter (55%), diffuse white matter volume loss (45%), mega cisterna magna (36%) and arachnoid cysts (27%). The molecular spectrum included 22 distinct variants, defining a mutational hotspot in the C-terminal domain of the Torsin-1A protein. Genotype-phenotype analysis revealed an association of missense variants in the 3-helix bundle domain to an attenuated phenotype, while missense variants near the Walker A/B motif as well as biallelic truncating variants were linked to early death. In summary, this systematic cross-sectional analysis of a large cohort of individuals with biallelic TOR1A variants across a wide age-range delineates the clinical and genetic spectrum of TOR1A-related autosomal-recessive disease and highlights potential predictors for disease severity and survival
Possible Vertical Transmission From an Unsuspected SARS-CoV-2-Infected Mother to Her Newborn
Evaluating Dietary Knowledge and Barriers to Self-Management of Type 2 Diabetes in Rural Kentucky: Cross-Sectional Interview Survey
To determine the challenges that residents of rural Kentucky face regarding diabetes self-management and to identify methods that may promote diabetes management based on a population’s needs, semistructured questionnaires were used to interview 71 adults with diabetes (40 food pantry customers and 31 grocery store customers). Although 70.1% reported following healthy diets, only 43.3% could correctly choose between pairs of healthy/unhealthy food options. Only 21% of food pantry customers (assumed low-income participants) ate healthy. Lower income participants had a 7.79 times greater chance of having a family history of diabetes and had lower perception of having proper weight than grocery store customer participants ( p = .036). Of all participants, 85.5% were motivated to manage their diabetes through diet, and 73.8% were interested in attending free healthy cooking classes. Participants who believed that diet is important in controlling diabetes revealed greater interest in attending cooking classes ( p = .017). To promote healthy diets, offering free healthy cooking classes may be an effective way of communication with patients with diabetes from lower socioeconomic and educational status. </jats:p
Cushing’s Disease Presenting with Functional Neurological (Conversion) Disorder
While psychiatric manifestations are common in patients with Cushing’s syndrome (CS), to our knowledge, there are no reported cases of CS presenting with functional neurological disorder (FND), a neuropsychiatric condition in which patients experience neurological symptoms, such as motor dysfunctions, sensory symptoms, speech disorders, or nonepileptic seizures, in the absence of neurological disease. Here, we report a case of a complex patient with Cushing’s disease who presented with multiple FND symptoms including nonepileptic seizures, bilateral lower extremity paralysis, decreased finger flexion resulting in limited hand function, and stuttering. This case illustrates a rare psychiatric manifestation of CS presenting as multiple neurological complaints. Furthermore, we elucidate how a multidisciplinary treatment approach improved our patient’s FND symptoms.</jats:p
The Impact of Non-Ophthalmic Factors on Intravitreal Injections During the COVID-19 Lockdown
Implementation of Teleretinal Screening Using Optical Coherence Tomography in the Veterans Health Administration
Evaluation of low-level laser therapy on skeletal muscle ischemia–reperfusion in streptozotocin-induced diabetic rats by assaying biochemical markers and histological changes
Cushing’s Disease Presenting with Functional Neurological (Conversion) Disorder
While psychiatric manifestations are common in patients with Cushing's syndrome (CS), to our knowledge, there are no reported cases of CS presenting with functional neurological disorder (FND), a neuropsychiatric condition in which patients experience neurological symptoms, such as motor dysfunctions, sensory symptoms, speech disorders, or nonepileptic seizures, in the absence of neurological disease. Here, we report a case of a complex patient with Cushing's disease who presented with multiple FND symptoms including nonepileptic seizures, bilateral lower extremity paralysis, decreased finger flexion resulting in limited hand function, and stuttering. This case illustrates a rare psychiatric manifestation of CS presenting as multiple neurological complaints. Furthermore, we elucidate how a multidisciplinary treatment approach improved our patient's FND symptoms
