Primary Immunodeficiency Diseases in Aguascalientes, Mexico: Results from an Educational Program.

PURPOSE: Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders characterized mainly by recurrent infections. Late diagnosis remains as one of the main issues to solve. We aimed to increase PID diagnosis in Aguascalientes, a 1.3 million inhabitants state in the center of Mexico, and to describe the clinical features of such patients. METHODS: We developed an educational program for health personnel and general public; patients with possible PID were referred to a State University clinical center from December 2011 to December 2012. The patients were evaluated at the clinic and their definitive diagnosis pursued through laboratory, molecular and genetic assays. We describe the findings of those patients and analyze the impact of the program in terms of number of referrals. RESULTS: After 41 talks and 12 media appearances 151 patients were referred for evaluation. Fifteen (9.9%) were diagnosed with PID: five (33%) had antibody deficiencies, seven (47%) Well-defined syndromes, two (13%) Severe combined Immunodeficiency (SCID) and one case (7%) of an innate immune deficiency. All of the 15 PID patients had been referred by physicians, as opposed to the public. We estimated a "number needed to teach" of 75 physicians to get one PID patient referral. CONCLUSION: Educational programs are a fundamental part of the global efforts to increase PID diagnosis and care. To be successful, such programs should include public relations, reach for first-contact physicians, and aim to develop an efficient referral network with molecular diagnostic capability. Enhancing medical knowledge on PID is a successful strategy to improve early diagnosis and treatment.

A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum?

Sirenomelia is the most severe malformation complex affecting the human caudal pole, although its etiology is unclear, a primary defect of blastogenesis has been proposed. Studies consider sirenomelia as the most severe form of caudal dysgenesis, VACTERL association, or axial mesodermal dysplasia, although others still support the idea of a different pathologic entity. We report the prenatal, clinical, and pathologic features of a fetus with cleft lip and palate, microtia, cardiac, renal and intestinal malformations, radial aplasia, and sirenomelia. Karyotype, chromosomal breakage studies, and SHH sequence analysis were normal. The occurrence of cephalic, midline-paramedial, and caudal malformations in the same patient imply the diagnosis of hemifacial microsomia and sirenomelia. These entities are part of the same mesodermal malformation spectrum and the clinical presentation depends on environmental and genetic interactions in embrionic development. Future clinical and genome wide studies will help to better delineate this spectrum.

Nuevas hipótesis embriológicas, genética y epidemiología de la gastrosquisis / New embryological hypothesis, genetics and epidemiology of gastroschisis

La gastrosquisis se define como una malformación de la pared abdominal caracterizada por herniación visceral con presencia de cordón umbilical intacto y ausencia de membrana. A la fecha se han propuesto seis teorías que intentan explicar la embriogénesis de esta entidad. Su etiología exacta se desconoce; sin embargo, se reconoce que presenta un patrón de herencia multifactorial. Recientemente se ha observado un aumento en el número de casos a escala mundial, particularmente en México, por lo que algunos autores proponen que se trata de una pandemia. En este trabajo se realizó una revisión actualizada de la embriología de la pared abdominal, de las teorías, la epidemiología y los factores de riesgo genético-ambientales involucrados en el desarrollo de la gastrosquisis.

Gastroschisis is defined as an abdominal wall malformation characterized by visceral herniation with an intact umbilical cord and absence of membrane. At present, six theories to explain the embryogenesis of this entity have been proposed. Although its etiology remains unknown, it is recognized with a multifactorial inheritance pattern. Recently, an increase of cases worldwide has been observed, particularly in Mexico. For that reason, some authors suggest this entity is pandemic. We performed an updated review of the abdominal wall embryology, theories, epidemiology and genetic-environmental risk factors involved in the development of gastroschisis.