Clinical and Descriptive Study of Orofacial Clefts in Colombia: 2069 Patients From Operation Smile Foundation.

Objective: To describe the population of patients with cleft lip and/or palate (CL/P) in terms of cleft phenotypes, gender, age, ethnic group, family history, clinical presentation (syndromic vs nonsyndromic), some environmental and behavioral factors, and some clinical features.

Design: Descriptive retrospective study.

Setting: Patients attending the genetics counseling practice in Operation Smile Foundation, Bogotá, Colombia, for over 8 years.

Thoracic Cardiovascular Complications of Tuberculosis.

Mycobacterium infection remains a leading cause of morbidity and mortality worldwide. Although rare, thoracic cardiovascular complications are associated with devastating consequences if not promptly diagnosed using computed tomography. Intrapulmonary complications include tuberculous aortitis, Rasmussen aneurysms, involvement of bronchial and nonbronchial systemic arteries, and thromboembolic events.

[Myiasis by Cochliomyia hominivorax in Argentina].

Miasis is the infestation of man and animals by larvae of flies belonging to the order Diptera, suborder Cyclorrapha. Eighty percent of miasis in Argentina is caused by Cochliomyia hominivorax, a species that induces pronounced tissue invasion and destruction, and results in severe clinical forms. Because of the aggressiveness of its larvae, it is important to reach a specific etiological diagnosis.

Pulmonary involvement in systemic sclerosis.

Systemic sclerosis (SSc) is a multi-systemic autoimmune disease that mainly affects the skin, lungs, gastrointestinal tract, heart and kidneys. Pulmonary disease in patients with SSc is strongly associated with mortality. The mechanisms involved into its pathophysiology include the activation of autoimmune cells and hyperplasia of fibroblasts with an increased capacity to produce collagen and diminished collagen breakdown.

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from the largely monogenic, syndromic forms which include clefts among a spectrum of phenotypes. Nonsyndromic clefting has been shown to arise through complex interactions between genetic and environmental factors. However, there is increasing evidence that the broad NSCLP classification may include a proportion of cases showing familial patterns of inheritance and contain highly penetrant deleterious variation in specific genes.

Pulmonary hydatidosis from Southern Argentina.

Hydatidosis or cystic echinococcosis is a zoonosis caused by the larval stage of the cestode Echinococcus. Even though different measures are taken including the use of a vaccine in livestock to stop transmission, the continuous diagnoses of cases, mainly of liver and pulmonary hydatidosis, show the failure of the control programs for hydatidosis in our country. A clinical case of pulmonary hydatidosis in a patient from a rural endemic area in Southern Argentina is described.