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A molecular study was completed with NGS that was positive for FHL-3. Due to the progressive clinical deterioration, a bone marrow transplantation was performed, presenting successful results after the first year had elapsed.

NGS is an indispensable tool in the diagnosis of FHL, mainly when the response to standard treatment is not adequate and facilitates the timely implementation of the necessary therapeutic measures.

NGS is an indispensable tool in the diagnosis of FHL, mainly when the response to standard treatment is not adequate and facilitates the timely implementation of the necessary therapeutic measures.

Both premature birth and low birth weight compromise nephron development. The lower nephron endowment is subjected to compensatory hyperfiltration that overloads the glomeruli and leads to the vicious circle of progressive deterioration of renal function.

To emphasize the risk of renal involvement in this susceptible population by describing the case of a patient with long-term follow-up.

Low-weight premature newborn, who presented at 3 years of age severe hypertension, which was controlled with different types of antihypertensive drugs. However, 10 years later subnephrotic proteinuria was detected; a renal biopsy confirmed a focal and segmental glome rulosclerosis. Despite blocking the renin-angiotensin system for 23 years, his renal function progres sively deteriorated, until requiring chronic hemodialysis during the last 3 years.

It is essential to increase the awareness of the risk of renal damage in premature and low weight newborns in order to establish management that covers from gestation to adult life and to achieve an individual and epidemiological impact on renal health.

It is essential to increase the awareness of the risk of renal damage in premature and low weight newborns in order to establish management that covers from gestation to adult life and to achieve an individual and epidemiological impact on renal health.

High-altitude pulmonary edema (HAPE) occurs when a person without adequate pulmonary adap tation ascends above 2500 meters above sea level. Usually, it is more frequent among those living at low altitudes, however, it can occur in people who live at high altitudes and descend to lower ones for a short time, which is called re-entry HAPE.

To describe the clinical course, diagnosis, and management of re-entry HAPE in pediatric patients, and to achieve an early approach to reduce complications.

We present 6 cases of pediatric patients diagnosed with re-entry HAPE in a fourth level hospital in Bogotá, Colombia, between 2013 and 2018. All patients resided in Bogo tá, 5/6 were male, the median age was 11 years, 4/6 had a history of lung disease, and 5/6 required a high-flow oxygen device. In all cases, the chest X-ray reported opacities and 2/6 showed pulmonary hypertension on the echocardiogram. All patients were initially treated for bacterial pneumonia or asthma and, although they progressed adequately, these inadequate treatments can cause compli cations.

The diagnosis, treatment, and prevention of HAPE are important since it is usually confused with infectious pulmonary pathologies due to its similar clinical course, which leads to inadequate treatment and can generate complications. The suggestion is that HAPE should be con sidered as a differential diagnosis in patients with a recent history of ascending to high altitude cities.

The diagnosis, treatment, and prevention of HAPE are important since it is usually confused with infectious pulmonary pathologies due to its similar clinical course, which leads to inadequate treatment and can generate complications. find more The suggestion is that HAPE should be con sidered as a differential diagnosis in patients with a recent history of ascending to high altitude cities.

Juvenile myasthenia gravis (JMG) is an autoimmune disease affecting the neuromuscular junction that appears before 19 years of age with varying degrees of weakness of different muscle groups. The main treatment is pharmacological, but thymectomy has also demonstrated to improve remission rates.

To describe the clinical characteristics and postoperative course of pediatric patients with JMG who underwent video-assisted thoracoscopic (VATS) thymectomy. Clinical Serie Six pa tients who underwent VATS thymectomy between March 2011 and June 2019. The age range at diag nosis was between 2 and 14 years and the average age at surgery was 7 years. All patients were under treatment with pyridostigmine bromide associated with immunosuppression with corticosteroids before surgery. The interval between diagnosis and thymectomy was 21.5 months on average. VATS was performed by left approach, and there was no perioperative morbidity or mortality. The average hospital stay was 2 days. Three patients remain with no symptoms and without corticotherapy. Two patients were on corticosteroids, but in smaller doses than previous to surgery. One patient presented a crisis requiring hospitalization and ventilatory support during follow-up.

VATS thy mectomy is part of the treatment for JMG. In this series, it appears as a safe approach and its results were favorable.

VATS thy mectomy is part of the treatment for JMG. In this series, it appears as a safe approach and its results were favorable.

to analyze the presence of common personality traits and anxiety states in children and adolescents with inflammatory bowel disease (IBD).

Longitudinal, prospecti ve, and analytical study by applying the questionnaires Children's Personality Questionnaire, High School Personality Questionnaire, State-Trait Anxiety Inventory for Children, and State-Trait Anxie ty Inventory for patients with IBD aged between 9 and 18 years seen at reference IBD units in Ara gon, Spain. The participants excluded were those with active disease, defined as a score > 10 on the Pediatric Crohn's Disease Activity Index (PCDAI Score) or > 10 on the Pediatric Ulcerative Colitis Activity Index (PUCAI Score).

Twenty-six patients participated (73% male). 61.5% pre sented Crohn's disease (CD) and 38.5% ulcerative colitis (UC). No patient presented active disease. The personality profile as a group was characterized by being open, emotionally stable, calm, sober, sensible, enterprising, impressionable, dependent, serene, perfectionist, and relaxed.