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Our aim was to characterize the phenotype and genotype of individuals with Noonan syndrome in Colombia. There are published cohorts of Noonan individuals from several countries in Latin America including Brazil, Chile, and Argentina, but none from Colombia. We described 26 individuals with NS from a single large referral center in the South West of Colombia using an established database in the genetics department and hospital records search using ICD-10 codes. All patients included in this study were evaluated by a medical geneticist and have molecular confirmation of NS diagnosis. The median age at referral was 3.5 years (range, 0-39), and at molecular diagnosis was 5 years (range, 0-40). Patients mostly originated from the southwest region of Colombia (19/26, 73%). Pathogenic variants in PTPN11 are the most common cause of NS in Colombian individuals followed by SHOC2 and SOS1 variants. The prevalence of cardiomyopathy was low in this population compared to other populations. Further research is needed with a larger sample size and including different regions of Colombia to correlate our findings. This study provides new information about time to diagnosis of NS in Colombia, genotypes, and provides important information to help develop guidelines for diagnosis and management of this disease in the region.

Nearly half of all human proteins are acetylated at their N-termini by the NatA N-terminal acetyltransferase complex. NAA10 is evolutionarily conserved as the catalytic subunit of NatA in complex with NAA15, but may also have NatA-independent functions. Several NAA10 variants are associated with genetic disorders. The phenotypic spectrum includes developmental delay, intellectual disability, and cardiac abnormalities. Here, we have identified the previously undescribed NAA10 c.303C>A and c.303C>G p.(N101K) variants in two unrelated girls. These girls have developmental delay, but they both also display hemihypertrophy a feature normally not observed or registered among these cases. Functional studies revealed that NAA10 p.(N101K) is completely impaired in its ability to bind NAA15 and to form an enzymatically active NatA complex. In contrast, the integrity of NAA10 p.(N101K) as a monomeric acetyltransferase is intact. Thus, this NAA10 variant may represent the best example of the impact of NatA mediated N-terminal acetylation, isolated from other potential NAA10-mediated cellular functions and may provide important insights into the phenotypes observed in individuals expressing pathogenic NAA10 variants.

Hypertriglyceridemia is a common disease with only 2% of cases exhibiting monogenic mutations. Familial chylomicronemia syndrome (FCS) is a rare genetic condition associated with recurrent and severe episodes of pancreatitis and is mainly caused by mutations in the LPL gene, with few cases related to abnormal function of apolipoprotein C-II. This is a 50-year-old female with a past medical history of arterial hypertension, miscarriage and recurrent pancreatitis. In the last four years, her triglycerides and lipase concentration reached >3000 mg/dL and >700 U/L, respectively. The patient was not responsive to statins, fibrates, or tetrahydrolipstatin. A novel homozygous frameshift mutation on exon 3 of the APOC2 gene was detected, c.133_134delTC. Subsequent Sanger sequencing confirmed that three first-degree relatives were carriers of the same mutation. To the best of our knowledge, we are reporting the first Colombian patient with FCS due to an APOC2 mutation. We propose that this mutation caused recurrent hypertriglyceridemic pancreatitis.

Hemangioma cavernoso esternal y reconstrucción de la pared torácica anterior

Trasplante pulmonar en paciente testigo de Jehovah

Hemorragia alveolar por Strongyloides stercoralis en trasplante combinado riñón-páncreas

Hemoptisis masiva

Paratiroides ectópica en Timo

EBUS-TBNA en lesiones simuladas de patología pulmonar

Expresión de PD-L1 y p16 en carcinoma de células escamosas primario de pulmón

Bocio intratorácico gigante de presentación atípica

Neumonitis granulomatosa de rápida instauración asociada al uso de etanercept

Calcificaciones pulmonares metastásicas asociadas a malignidad hematológica

Quiste óseo aneurismático en la reja costal

South America comprises of heterogeneous topographies, populations, and health care systems. Therefore, it is not surprising to see differences among the countries regarding expertise, education, and practices of ophthalmic genetics for patients with rare eye diseases. Nevertheless, common challenges such as limited genetics training in medical schools and among ophthalmologists, scarcity of diagnostic tools for phenotyping, and expensive genetic testing not covered by the public healthcare systems, are seen in all of them. Here, we provide a detailed report of the current status of ophthalmic genetics, described by the personal views of local ophthalmologists from Brazil, Colombia, Argentina, and Chile. By reporting our strengths and weaknesses as a region, we intend to highlight the need for guidelines on how to manage these patients aligned with public health policies. Our region contributes to research worldwide, with thousands of well diagnosed patients from a number of unique and genetically diverse populations. The constant expansion of ophthalmic genetics and molecular diagnostics requires us to join forces to collaborate across South America and with other countries to improve access to next-generation diagnostics and ultimately improve patient care.

Rationale: Polydimethylsiloxane, commonly referred as silicone, is an inert liquid compound used in esthetic procedures due to its durability and thermal stability, yet the application of non-pure silicone generates risks. One of the complications is systemic embolism syndrome which is presents with fever, hypoxemia, and progression to respiratory failure, diffuse alveolar damage and alveolar hemorrhage, as well as neurological alterations in one-third of the cases. Management is strictly supportive. We present the case of acute pneumonitis with alveolar hemorrhage after silicone injection. Patient concerns: 25-year-old transsexual man, who consulted 48 hours after liquid silicone injection in the buttocks and trochanteric area, with progressive dyspnea and chest tightness, with rapid progression to respiratory failure. Diagnosis: Clinical diagnosis of silicone embolism was made. Chest x-ray and CT angiography showed diffuse alveolar infiltrates and pleural effusion without evidence of acute venous thromboembolism. Bronchoscopy plus bronchoalveolar lavage showed hemorrhagic fluid, 60% macrophages with hemosiderin in cytology and negative cultures. Intervention: Sedation, relaxation, pronation, and protective ventilation were implemented until hemodynamic stabilization; as well as IV steroids and antibiotics. Outcomes: Clinical progress was slow towards improvement with resolution of radiological or physical abnormalities. Despite severity, the patient improved satisfactorily without late sequelae. Lessons: Silicone injection can trigger phenomena similar to that seen in fat embolism causing inflammation and immune response activation that lead to alveolar hemorrhage, diffuse alveolar damage, and acute respiratory distress syndrome. We reported pulmonary complications related to the illegal use of injected silicone for esthetic procedures.

Lung carcinoma currently represents 1 of the leading causes of death from cancer worldwide and regionally. The molecular identification of sensitive mutations of targeted treatment have changed the strategies of pharmacologic management in non-small cell lung carcinoma. However, mechanisms of resistance have been described, among them the change of histological type to small cell carcinoma. We present the case of a 46-year-old male patient, non-smoker, with a clinical history of a mass in the upper lobe of the right lung and an initial histological diagnosis of adenosquamous carcinoma of the lung, with the presence of mutations for epidermal growth factor receptor (EGFR) in exons 20 (S768I) and 21 (L858R). He received treatment with tyrosine kinase inhibitor (Erlotinib) with good clinical and radiological response. However, 1 year after the start of the medication, he consulted for a progressive onset of constitutional symptoms and respiratory symptoms, with radiographic worsening and new biopsy with a diagnosis of adenosquamous carcinoma with the adenocarcinoma component transformed to small cell carcinoma, with persistence of EGFR mutation. We describe the clinical, radiological, and laboratory characteristics as well as the outcome of this case. To conclude, among the mechanisms of resistance described to the treatment with tyrosine kinase inhibitors in patients with carcinomas with mutated EGFR, the transformation to small cell carcinoma besides being infrequent is particular, requiring a different diagnostic and therapeutic approach.

Plastic bronchitis is a rare and underdiagnosed disease characterized by the formation and expectoration of bronchial casts of amorphous material, which can be potentially fatal. It is more frequent in pediatric population. Symptoms can range from chronic cough and dyspnea to respiratory failure depending on the area of the compromised airway. Casts are classified as type I when constituted by inflammatory cells and accompany diseases such as asthma and pneumonias; and type II when acellular and are associated with congenital heart diseases following procedures such as Fontan.We report the case of a male schoolchild with a history of complex congenital heart disease, treated with palliative surgery, evaluated in the emergency department for cough and respiratory distress. The mother referred expulsion of gelatinous material after coughing. During clinical evaluation, expulsion of bronchial casts was evidenced, suggesting a plastic bronchitis. He underwent a diagnostic and therapeutic bronchoscopy and received initial treatment with respiratory therapy, nebulized hypertonic saline solution, mucolytics, dornase alpha and nebulized heparin. The hospitalization revealed a stenosis of the right pulmonary artery, which was corrected with stent. The patient progressed satisfactorily with improvement of cough and expectoration. He was discharged with combined treatment, nebulized medications and those concerning his underlying disease. Keywords: Plastic bronchitis, Bronchial casts, Congenital heart disease, Fontan

To describe the behavior of 45 discs of dental amalgam of known dimension prepared from three commercially available brands of dental amalgam (Contour® Kerr®-USA, Admix® SDI®-Australia and Nu Alloy® Newstethic®-Colombia) when subjected to the action of high temperatures (200 °C, 400 °C, 600 °C, 800 °C, 1000 °C). It was hoped to establish parameters that could be used for human dental identification in cases of charred, burned or incinerated human remains.A pseudo-experimental descriptive in-vitro study was designed to describe the macroscopic physical changes to the surface of 45 discs of pre-prepared amalgam of three commercially available brands exposed to a range of high temperatures.Characteristic and repetitive physical changes were a noticeable feature of the discs of amalgam of each brand of amalgam subjected to the different temperature ranges. These physical changes included changes in dimensional stability, changes in texture, changes in colour, changes in the appearance of fissures and cracks and changes in the fracture and fragmentation of the sample.The characteristics of dental amalgam may be of assistance in cases of human identification where charred, burned or incinerated human remains are a feature and where fingerprints or other soft tissue features are unavailable.