Nutrition genetic counseling

The increasing global prevalence and associated comorbidities need innovative approaches for type 2 diabetes mellitus (T2DM) prevention and treatment. Genetics contributes significantly to T2DM susceptibility, and genetic counseling is significant in detecting and informing people about the diabetic risk. T2DM is also intricately linked to overnutrition and obesity, and nutritional advising is beneficial to mitigate diabetic evolution. However, manipulating pancreatic cell plasticity and transdifferentiation could help beta cell regeneration and glucose homeostasis, effectively contributing to the antidiabetic fight...

Cystic fibrosis (CF) is a chronic and potentially life-threatening condition, wherein timely diagnosis assumes paramount significance for the prompt initiation of therapeutic interventions, thereby ameliorating pulmonary function, addressing nutritional deficits, averting complications, mitigating morbidity, and ultimately enhancing the quality of life and extending longevity. This review aims to amalgamate existing knowledge to provide a comprehensive appraisal of contemporary diagnostic modalities pertinent to CF in the 21st century...

BACKGROUND: Maintenance rates of exclusive breastfeeding (EBF) worldwide are low, thus, one of the objectives of the summary of policies on breastfeeding (BF) in world nutrition goals for 2025 are that at least 50% of infants under six months of age receive EBF that year. The Objective of this study is to document the rates of EBF in children born in San Ignacio University Hospital (HUSI) and identify factors associated with maintenance. AIM: To document the percentages of EBF in those that were born at HUSI and identify factors associated to their maintenance...

An infant was admitted with suspected postinfectious malabsorption with watery diarrhoea, fever and failure to thrive. She had dehydration, acute kidney injury and metabolic acidosis, which were corrected with intravenous fluids and managed with empiric antibiotics and prophylactic antifungals. She also developed Escherichia coli sepsis, meningitis and Candida skin infections during hospitalisation, which were treated according to the culture reports. Intrauterine growth restriction, woolly hair and a broad nasal bridge with chronic refractory diarrhoea prompted genetic testing to rule out syndromic diarrhoea...

OBJECTIVES: Biallelic variants in the adenosine triphosphate binding cassette subfamily B member 4 (ABCB4) gene which encodes the multidrug resistance 3 protein (MDR3) leads to progressive familiar intrahepatic cholestasis type 3. However, monoallelic variants are increasingly recognized as contributing to liver disease in adults. Our aim was to describe the clinical characteristics of MDR3 heterozygous variants in a large cohort of infants and children with cholestatic liver disease...

BACKGROUND: The use of primary healthcare and health promotion services is low among immigrants compared with native citizens. Immigrants are at risk of developing chronic diseases due to genetics, nutrition and a sedentary lifestyle. Registered nurses play an integral role in teaching, counselling for a healthy lifestyle and care coordination in primary healthcare. AIM: We aimed to explore the perceptions of registered nurses on healthy lifestyle counselling for preventing type 2 diabetes and other chronic diseases among immigrants in the primary healthcare setting...

Interprofessional collaboration is an increasingly important skillset for practicing healthcare professionals including genetic counselors and registered dietitian nutritionists. A multi-part interactive case study activity was created to develop interprofessional skills for graduate students within genetic counseling and medical nutrition training programs at an academic medical center. Feedback from learners who participated in this activity highlights its effect on their post-graduation clinical practice...

The ichthyosis, also called disorders of keratinization or cornification, are heterogeneous group of disorders characterized by a generalized scaling of the skin of varying severity. The majority of ichthyosis is inherited but acquired forms can develop in the setting of malignancy, autoimmune or infectious disease, and nutritional deficiency. Autosomal recessive congenital ichthyosis, which include lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis, are rare; their overall incidence has been estimated at approximately 1 in 300,000 births...

INTRODUCTION: Metabolic myopathies (MM) are a heterogeneous group of genetic disorders affecting metabolic pathways involved in energy production during rest, exercise and physiologic stress (fever, fasting, …). Impairments in the pathways of glycolysis/ glycogenolysis, fatty acid transport/oxidation or in the mitochondrial respiratory chain present primarily with exercise intolerance, myalgias, weakness, cramps, or rhabdomyolysis. Depending on aetiology, the diagnosis can be made through neonatal screening, pre-symptomatic or in the set of clinical manifestations for which a high level of suspicion is important...

Hereditary transthyretin (ATTRv) amyloidosis is a rare and autosomal dominant disorder associated with mutations in the transthyretin gene. Patients present with diverse symptoms related to sensory, motor, and autonomic neuropathy, as well as gastrointestinal, ocular, cardiac, renal and orthopedic symptoms, resulting from the deposition of transthyretin amyloid fibrils in multiple organs. The progressive nature of ATTRv amyloidosis necessitates pre- and post-onset monitoring of the disease. This review article is primarily based on a collation of discussions from a medical advisory board meeting in August 2021...

BACKGROUND: The CACNA1S gene encodes the alpha 1 S-subunit of the voltage-gated calcium channel, which is primarily expressed in the skeletal muscle cells. Pathogenic variants of CACNA1S can cause hypokalemic periodic paralysis (HypoPP), malignant hyperthermia susceptibility, and congenital myopathy. We aimed to study the clinical and molecular features of a male child with a CACNA1S variant and depict the molecular sub-regional characteristics of different phenotypes associated with CACNA1S variants...

Polymorphisms in genes of leptin-melanocortin and insulin pathways have been associated with obesity and type 2 diabetes. We hypothesized that polymorphisms in IRS1, IRS2, MC3R, and MC4R influence metabolic and inflammatory markers and food intake composition in Brazilian subjects. This exploratory pilot study included 358 adult subjects. Clinical, anthropometric, and laboratory data were obtained through interview and access to medical records. The variants IRS1 rs2943634 A˃C, IRS2 rs1865434 C>T, MC3R rs3746619 C>A, and MC4R rs17782313 T>C were analyzed by real-time polymerase chain reaction...

While the exact cause of IBD is unknown, there are a number of factors that are thought to contribute to its development, including environmental and genetic factors. While exclusive enteral nutrition (EEN) is a promising therapy for Crohn's disease (CD), it is not yet considered a first-line treatment. Additionally, the efficacy of EEN compared to corticosteroid treatment is still being investigated. EEN is suggested as a first-line therapy by which guidelines and in which age groups, as it may differ in pediatric and adult recommendations...

Angelman syndrome (AS) is a rare pediatric neurological condition in which patients most commonly present with inappropriate laughter, microcephaly, speech difficulties, seizures, and movement disorders. AS can be diagnosed clinically and confirmed with genetic testing. In this case report, the patient presented with 9.3% weight loss at two days of age. Although there were multiple attempts at lactational counseling and nutritional guidance, the patient was admitted to the hospital due to failure to thrive...

Obesity is a chronic disease resulting from multifactorial causes mainly related to lifestyle (sedentary lifestyle, inadequate eating habits) and to other conditions such as genetic, hereditary, psychological, cultural, and ethnic factors. The weight loss process is slow and complex, and involves lifestyle changes with an emphasis on nutritional therapy, physical activity practice, psychological interventions, and pharmacological or surgical treatment. Because the management of obesity is a long-term process, it is essential that the nutritional treatment contributes to the maintenance of the individual's global health...

PURPOSE: The American College of Surgeons Standard 4.8 requires an institution to implement a survivorship program to become a Commission on Cancer (CoC)-accredited cancer center. The online information offered by these cancer centers can help educate patients and their caregivers about available services. We assessed the content of survivorship program websites of CoC-accredited cancer centers in the United States. METHODS: Of the 1245 CoC-accredited centers for adults, we sampled 325 institutions (26%) based proportionately on the 2019 new cancer cases by state...

Hypertriglyceridemia is a lipid disorder with a varying prevalence; it is very common if we consider triglyceride plasma values slightly above the threshold, whereas it is extremely rare if only severely elevated triglyceride levels are considered. In most cases, severe forms of hypertriglyceridemia are caused by genetic mutations in the genes that regulate triglyceride metabolism, thus leading to extreme triglyceride plasma values and acute pancreatitis risk. Secondary forms of hypertriglyceridemia are usually less severe and are mainly associated with weight excess, but they can also be linked to liver, kidney, endocrinologic, or autoimmune diseases or to some class of drugs...

The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation. The resultant skin barrier dysfunction leads to increased transepidermal water loss and inflammation. Disordered cornification is clinically characterized by skin scaling with various degrees of thickening, desquamation (peeling) and erythema (redness). Regardless of the type of ichthyosis, many patients suffer from itching, recurrent infections, sweating impairment (hypohidrosis) with heat intolerance, and diverse ocular, hearing and nutritional complications that should be monitored periodically...

PURPOSE OF REVIEW: Metabolic myopathies are disorders that affect skeletal muscle substrate oxidation. Although some drugs and hormones can affect metabolism in skeletal muscle, this review will focus on the genetic metabolic myopathies. RECENT FINDINGS: Impairments in glycogenolysis/glycolysis (glycogen storage disease), fatty acid transport/oxidation (fatty acid oxidation defects), and mitochondrial metabolism (mitochondrial myopathies) represent most metabolic myopathies; however, they often overlap clinically with structural genetic myopathies, referred to as pseudometabolic myopathies...

The age-associated decrease in appetite and food intake is referred to as "anorexia of aging". Older adults with anorexia show changes in the quantity/quality of energy supplied to the organism which eventually may cause a mismatch between ingested calories and physiological energy demands. Therefore, a state of malnutrition and impaired metabolism may ensue which renders older people more vulnerable to stressors and more prone to incur negative health outcomes. These latter cover a wide range of conditions including sarcopenia, low engagement in physical activity, and more severe consequences such as disability, loss of independence, hospitalization, nursing home placement, and mortality...