Publications by authors named "Nguyen Ngoc Quynh Le"

Purpose Of Review: Obstructive sleep apnea (OSA) is common in children. Phenotyping pediatric OSA has a crucial role in personalized diagnosis and treatment to improve outcomes for this population. This review sets forth a clinical approach that allows for phenotyping pediatric OSA.

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Introduction: With increased diagnostic capabilities and treatment modalities in the field of primary immunodeficiencies (PID), many pediatric patients survive beyond childhood and experience a change of care to the adult-oriented healthcare system. Unfortunately, the transition pathways for PID are less clearly defined, resulting in deterioration of quality of care in adulthood. Hence, this is the first regional study to address PID clinicians' opinions on practices and challenges of transition care in 7 Southeast Asia (SEA) countries.

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Background: Chronic granulomatous disease (CGD) is an inborn error of immunity (IEI) disorder that results from defects in the respiratory burst activity in phagocytes, leading to the inability to kill bacterial and fungal microorganisms. CGD patients usually have a high incidence of morbidity such as infections and autoinflammatory diseases and a high mortality rate. Allogeneic bone marrow transplantation (BMT) is the only definitive cure for patients who suffer from CGD.

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Background: Asthma and obstructive sleep apnea (OSA) are common chronic respiratory disorders in children. The relationship between asthma and OSA is bidirectional; these conditions share multiple epidemiological risk factors. Untreated OSA may cause attention deficit hyperactivity disorder (ADHD) symptoms.

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Background: Obstructive sleep apnea (OSA) is the most common form of respiratory disorders during sleep in children, especially those with severe asthma. However, optimal treatment of asthma might significantly improve OSA severity.

Methods: It was a cohort study including children aged >5 years old and diagnosed with asthma according to GINA (Global Initiative for Asthma).

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Introduction: Inhaled corticosteroid (ICS) is the most widely used and effective treatment of asthma. However, some patients do not respond to ICS, which might be due to various genetic factors. Hence, understanding the genetic factors involved in the ICS response could help physicians to individualize their treatment decision and action plans for given patients.

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To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa.

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Background: Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a rare and life-threatening disease of the skin and mucosal surfaces. Although gastrointestinal manifestations in adults are potential prognostic factors for disease severity, there are limited data on such cases and their standard management in the pediatric population.

Case Presentation: We herein report the case of an 8-year-old girl with a 1-year history of epilepsy, who presented with bilateral conjunctivitis and progressively widespread bullous, and pruritic eruption based on erythematous skin after administration of carbamazepine.

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The X-linked hyper IgM syndrome is a primary immunodeficiency disorder (PID) due to mutations in the CD40LG gene. Hyper IgM syndrome is characterized by the absence or decreased levels of IgG and IgA and normal or elevated IgM levels in serum. Affected patients become susceptible to infections such as pneumonia, diarrhea, and skin ulcer types.

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Article Synopsis
  • - The Asia Pacific Society for Immunodeficiencies (APSID) has organized nine training schools over five years to address varying primary immunodeficiency (PID) care needs for early-career doctors across the Asia Pacific region.
  • - A study examined 427 abstracts from these schools, finding that factors like socio-economic development (measured by the Human Development Index or HDI) significantly affected the availability of essential immunologic and genetic tests, as well as the focus of learning topics.
  • - APSID identified specific strategies tailored to different HDI groups in order to enhance PID care and education in its member countries/regions based on the unique resource and training needs observed.
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Article Synopsis
  • Severe Combined Immunodeficiency (SCID) is life-threatening and requires timely treatment, often delayed due to lack of newborn screening; family history of infant deaths related to SCID contributes to quicker diagnoses.
  • In a study of 147 SCID patients, 94 had genetic diagnoses, revealing 88 different gene mutations, with an average diagnosis age of 4 months and a delay of 2 months in identification.
  • Family history led to earlier presentations and diagnoses, while infections like candidiasis were common but resulted in later diagnosis times; clinicians often missed the significance of family history in clinical assessments.*
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Objective: The prevalence of coeliac disease (CD) in Vietnam is unknown. To fill this void, we assessed the prevalence of serological markers of CD autoimmunity in a population of children in Hanoi.

Setting: The outpatient blood drawing laboratory of the largest paediatric hospital in North Vietnam was used for the study, which was part of an international project of collaboration between Italy and Vietnam.

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