scholarly journals Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review

2019 ◽  
Vol 48 (2) ◽  
pp. 030006051986354 ◽  
Author(s):  
Héctor Cruz-Camino ◽  
Diana Laura Vazquez-Cantu ◽  
Alexandra Vanessa Zea-Rey ◽  
Jaime López-Valdez ◽  
Jorge Jiménez-Lozano ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Latin American ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Reference Value ◽  
Failure To Thrive ◽  
Autosomal Dominant Disorder ◽  
Disease Etiology ◽  
American Patient ◽  
Plasma Tyrosine

Hawkinsinuria is an autosomal dominant disorder of tyrosine metabolism. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene ( HPD) result in an altered HPD enzyme, causing hawkinsin and tyrosine accumulation. Persistent metabolic acidosis and failure to thrive are common features in patients with hawkinsinuria. We present the first known Latin American patient diagnosed with hawkinsinuria, and the tenth reported patient in the literature. We aim to establish clinical practice guidelines for patients with hawkinsinuria. The patient’s plasma tyrosine level was 21.5 mg/dL, which is several times higher than the reference value. Mutation analysis indicated heterozygosity for V212M and A33T variants in HPD. In the case of altered tyrosine levels found during newborn screening, we propose exclusive breastmilk feeding supplemented with ascorbic acid. Amino acid quantification is useful for monitoring treatment response. If tyrosinemia persists, protein intake must be decreased via a low-tyrosine diet. Molecular studies can be used to confirm a patient’s disease etiology. Further reports are required to elucidate new pathogenic and phenotypic variations to enable the development of an appropriate therapeutic approach.

scholarly journals Latin American Association for the Study of the Liver (LAASL) Clinical Practice Guidelines: Management of Hepatocellular Carcinoma

2014 ◽  
Vol 13 ◽  
pp. S4-S40 ◽  
Author(s):  
Nahum Méndez-Sánchez ◽  
Ezequiel Ridruejo ◽  
Angelo Alves de Mattos ◽  
Norberto C. Chávez-Tapia ◽  
Rodrigo Zapata ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Clinical Practice ◽  
Latin American ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
American Association

scholarly journals Alcohol-related liver disease: Clinical practice guidelines by the Latin American Association for the Study of the Liver (ALEH)

2019 ◽  
Vol 18 (3) ◽  
pp. 518-535 ◽  
Author(s):  
Juan P. Arab ◽  
Juan P. Roblero ◽  
Jose Altamirano ◽  
Fernando Bessone ◽  
Roberta Chaves Araujo ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Liver Disease ◽  
Latin American ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
American Association ◽  
Related Liver Disease

scholarly journals First Latin American clinical practice guidelines for the treatment of systemic lupus erythematosus: Latin American Group for the Study of Lupus (GLADEL, Grupo Latino Americano de Estudio del Lupus)–Pan-American League of Associations of Rheumatology (PANLAR)

2018 ◽  
Vol 77 (11) ◽  
pp. 1549-1557 ◽  
Author(s):  
Bernardo A Pons-Estel ◽  
Eloisa Bonfa ◽  
Enrique R Soriano ◽  
Mario H Cardiel ◽  
Ariel Izcovich ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Clinical Practice ◽  
Latin American ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Lupus Erythematosus ◽  
Special Focus ◽  
Systemic Lupus ◽  
Assessment Development ◽  
Evaluation Approach

Systemic lupus erythematosus (SLE), a complex and heterogeneous autoimmune disease, represents a significant challenge for both diagnosis and treatment. Patients with SLE in Latin America face special problems that should be considered when therapeutic guidelines are developed. The objective of the study is to develop clinical practice guidelines for Latin American patients with lupus. Two independent teams (rheumatologists with experience in lupus management and methodologists) had an initial meeting in Panama City, Panama, in April 2016. They selected a list of questions for the clinical problems most commonly seen in Latin American patients with SLE. These were addressed with the best available evidence and summarised in a standardised format following the Grading of Recommendations Assessment, Development and Evaluation approach. All preliminary findings were discussed in a second face-to-face meeting in Washington, DC, in November 2016. As a result, nine organ/system sections are presented with the main findings; an ‘overarching’ treatment approach was added. Special emphasis was made on regional implementation issues. Best pharmacologic options were examined for musculoskeletal, mucocutaneous, kidney, cardiac, pulmonary, neuropsychiatric, haematological manifestations and the antiphospholipid syndrome. The roles of main therapeutic options (ie, glucocorticoids, antimalarials, immunosuppressant agents, therapeutic plasma exchange, belimumab, rituximab, abatacept, low-dose aspirin and anticoagulants) were summarised in each section. In all cases, benefits and harms, certainty of the evidence, values and preferences, feasibility, acceptability and equity issues were considered to produce a recommendation with special focus on ethnic and socioeconomic aspects. Guidelines for Latin American patients with lupus have been developed and could be used in similar settings.

scholarly journals Clinical practice guidelines for the management of hypothyroidism

2013 ◽  
Vol 57 (4) ◽  
pp. 265-291 ◽  
Author(s):  
Gabriela Brenta ◽  
Mario Vaisman ◽  
José Augusto Sgarbi ◽  
Liliana Maria Bergoglio ◽  
Nathalia Carvalho de Andrada ◽  
...  
Keyword(s):  
Latin America ◽  
Clinical Practice ◽  
Pregnant Women ◽  
Latin American ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Clinical Guidelines ◽  
Task Force ◽  
Evidence Based ◽  
Organ Systems

INTRODUCTION: Hypothyroidism has long been known for its effects on different organ systems, leading to hypometabolism. However, subclinical hypothyroidism, its most prevalent form, has been recently related to cardiovascular risk and also to maternal-fetal complications in pregnant women. OBJECTIVES: In these clinical practice guidelines, several aspects of this field have been discussed with the clear objectives of helping physicians treat patients with hypothyroidism, and of sharing some of our Latin American-based clinical experience. MATERIALS AND METHODS: The Latin American Thyroid Society commissioned a Task Force on Hypothyroidism to develop evidence-based clinical guidelines on hypothyroidism. A systematic review of the available literature, focused on the primary databases of MedLine/PubMed and Lilacs/SciELO was performed. Filters to assess methodological quality were applied to select the best quality studies. The strength of recommendation on a scale from A-D was based on the Oxford Centre for Evidence--based Medicine, Levels of Evidence 2009, allowing an unbiased opinion devoid of subjective viewpoints. The areas of interest for the studies comprised diagnosis, screening, treatment and a special section for hypothyroidism in pregnancy. RESULTS: Several questions based on diagnosis, screening, treatment of hypothyroidism in adult population and specifically in pregnant women were posed. Twenty six recommendations were created based on the answers to these questions. Despite the fact that evidence in some areas of hypothyroidism, such as therapy, is lacking, out of 279 references, 73% were Grade A and B, 8% Grade C and 19% Grade D. CONCLUSIONS: These evidence-based clinical guidelines on hypothyroidism will provide unified criteria for management of hypothyroidism throughout Latin America. Although most of the studies referred to are from all over the world, the point of view of thyroidologists from Latin America is also given.

High Flow Oxygen Therapy and the Pressure to Feed Infants With Acute Respiratory Illness

2020 ◽  
Vol 5 (4) ◽  
pp. 1006-1010
Author(s):  
Jennifer Raminick ◽  
Hema Desai
Keyword(s):  
Clinical Practice ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Oxygen Therapy ◽  
Respiratory Illness ◽  
High Flow ◽  
Oral Feeding ◽  
Respiratory Support ◽  
Acute Respiratory Illness ◽  
High Flow Oxygen

Purpose Infants hospitalized for an acute respiratory illness often require the use of noninvasive respiratory support during the initial stage to improve their breathing. High flow oxygen therapy (HFOT) is becoming a more popular means of noninvasive respiratory support, often used to treat respiratory syncytial virus/bronchiolitis. These infants present with tachypnea and coughing, resulting in difficulties in coordinating sucking and swallowing. However, they are often allowed to feed orally despite having high respiratory rate, increased work of breathing and on HFOT, placing them at risk for aspiration. Feeding therapists who work with these infants have raised concerns that HFOT creates an additional risk factor for swallowing dysfunction, especially with infants who have compromised airways or other comorbidities. There is emerging literature concluding changes in pharyngeal pressures with HFOT, as well as aspiration in preterm neonates who are on nasal continuous positive airway pressure. However, there is no existing research exploring the effect of HFOT on swallowing in infants with acute respiratory illness. This discussion will present findings from literature on HFOT, oral feeding in the acutely ill infant population, and present clinical practice guidelines for safe feeding during critical care admission for acute respiratory illness. Conclusion Guidelines for safety of oral feeds for infants with acute respiratory illness on HFOT do not exist. However, providers and parents continue to want to provide oral feeds despite clinical signs of respiratory distress and coughing. To address this challenge, we initiated a process change to use clinical bedside evaluation and a “cross-systems approach” to provide recommendations for safer oral feeds while on HFOT as the infant is recovering from illness. Use of standardized feeding evaluation and protocol have improved consistency of practice within our department. However, further research is still necessary to develop clinical practice guidelines for safe oral feeding for infants on HFOT.

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