Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review.

Autosomal recessive type 2 primary hypertrophic osteoarthropathy (PHOAR2) and chronic enteropathy associated with SLCO2A1 (CEAS) are two entities caused by pathogenic variants (PVs) in the SLCO2A1 gene that can coexist or occur independently from one another. We report two cases of PHOAR2 in Mexico with concomitant CEAS and conducted a review of the literature of the reported cases of PHOAR2 and/or CEAS to analyze the relationship between their genotype and phenotype presentation. The patients from our Institution with classical PHOAR2 phenotype and CEAS, harbored SLCO2A1 c.547G > A and c.1768del variants. We reviewed 232 cases, of which 86.6% were of Asian origin, and identified 109 different variants in SLCO2A1. Intron 7, exon 13, and exon 4 were predominantly affected. The two most common PVs were c.940 + 1G > A and c.1807C > T. We found a statistically significant association between SLCO2A1 variants located in intron 7, exons 12, and 13 and the development of CEAS. Missense variants were more frequent in isolated PHOAR2, while a greater proportion of protein-truncating variants (PTVs) were found in CEAS. Further investigation is imperative to elucidate the underlying pathophysiological mechanisms associated with CEAS, thereby facilitating the identification of effective therapeutic interventions.

Malassezia Folliculitis in the Setting of COVID-19.

Purpose of Review: To review recent literature on Malassezia folliculitis and explore its association with COVID-19. Recent Findings: Reports of Malassezia folliculitis in the setting of COVID-19 are scarce. Shared characteristics between affected individuals include male sex, obesity, intensive care, and administration of systemic antibiotics and systemic steroids. Dexamethasone can potentially stimulate sebum production and therefore lead to Malassezia proliferation. The clinical picture of Malassezia folliculitis accompanying COVID-19 is similar to classic descriptions but tends to spare the face and predominates in occlusion sites. Summary: Malassezia folliculitis is under-recognized. Fever, sweating, occlusion, immobility, antibiotics, and dexamethasone contribute to COVID-19 patients developing Malassezia folliculitis. Antifungal therapy, together with correcting predisposing factors, is the mainstay of management. Future research should explore the relationship between systemic steroids and other acneiform reactions.

Painful nails: A practical approach to the diagnosis and management of painful nail conditions.

Because several nail disorders share similar clinical features, their diagnosis and management can be challenging to clinicians. The physical examination may disclose localized abnormalities or point to an underlying systemic disease, requiring additional workup. Furthermore, cosmetic distress and nail-related symptoms (e.g., tingling, stinging, numbness, and pain) are common factors that influence the patient's search for medical assistance. Nail pain (i.e., onychalgia) can accompany both localized and systemic pathology. Onychalgia can be acute or chronic according to the time of evolution; patients may describe it as intermittent or constant, and as a throbbing, burning, sharp, or shooting sensation denoting the nature of the pain. It may be exacerbated by colder temperatures, touch, and increased activity (e.g., manipulating objects, walking). We present four main groups of conditions that might cause nail pain: nail tumors, nail deformities, inflammatory or infectious diseases, and external or traumatic agents. Our article includes an overview of the clinical features, as well as diagnosis and management pearls for each entity. Physicians (dermatologists and nondermatologists) should be aware that abnormalities of the ungual and subungual space are not exclusive of dermatological disorders but may also be present in noncutaneous contexts.

Anterior and intermediate pituitary tissues express claudin 4 in follicle stellate cells and claudins 2 and 5 in endothelial cells.

Follicle-stellate cells are pituitary non-granular cells that are arranged between secretory cells or organized in follicles with small lumens. Cells from the follicles exhibit the typical phenotype of a transporting epithelium, including apical microvilli with a cilium and tight junctions. Freeze-fracture electron microscopy images show that the tight junctions consist of 5-7 anastomosing strands and that cultured follicle-stellate cells develop a trans-epithelial electrical resistance characteristic of "tight" epithelia. Here, we investigate the molecular composition of the tight junction from follicle stellate cells. We found that the rat anterior pituitary lobe expresses mRNAs for claudins 2, 4 and 5; the proteins of all these claudins are observed in the anterior lobe, whereas the intermediate lobe expresses claudins 2 and 5 and the posterior lobe contains only claudin 5. Follicle-stellate cells, identified by their protein marker S100ß, expresses claudin 4 in the apical membrane, in co-localization with dipeptidyl-peptidase and near acetylated ß-tubulin. Claudin 4 partially co-localizes with E-cadherin, indicating that a fraction of the protein is located in the basolateral domain. Follicle-stellate-enriched cell cultures develop patches of polygonal cells expressing claudin 4 and E-cadherin, encircled by extensive monolayers of fusiform cells. Claudin 2 stains specifically blood vessels, identified by claudin 5 and VE-cadherin labels. Thus, follicles in the anterior pituitary consist of "tight" epithelia that can carry out intense vectorial transport, together with a high cation movement in blood vessels, possibly related to the ion requirements of excitable secretory cells for hormone secretion.

[Truncus arteriosus, anatomy, surgical treatment, follow up]. / Tronco común. Variantes anatómicas, tratamiento quirúrgico y evolución.

OBJECTIVE: To evaluate through a retrospective cohort the anatomy and results of patients that were operated of truncus arteriosus. MATERIAL AND METHODS: Historic cohort. From January 2000 to December 2005 twenty eight patients with troncus arteriosus were operated. RESULTS: There were fifteen male (53.6%) and 13 female patients (46.4%). The median age, at the time of the surgery, was 10.5 months. The median weight, at the time of the surgery was 6 kg. All the patients were dominant aortic. A woven-dacron tube was used in 25 cases, Hanckock to 2 and Barbero Marcial procedure in one. The media diameter for the tube for the 27 patients (96.4%) was of 14 +/- 2 mm. Two patients required aortic valvular replacement at the same time of the surgery and two more during follow up, after the first surgery. Fifty per cent of the patients had pulmonary hypertension crisis after de surgery. There were three deaths: one patient had cardiogenic shock; another had pulmonary hypertension and one more had obstruction of the traqueostomy cannula. During study monitoring, 3 patients (10.7%) needed interventionist procedures. One case needed dilatation of the tube and two cases needed dilatation of the pulmonary branches to implant a stent device. There has been one tube change 4.2 years after the correction. Actuarial survival after 30 days was of 96.42%, and 88.9% after one and five years. CONCLUSIONS: The surgical correction of the truncus arteriosus has allowed changing the natural history of this disease. Mortality is low however our follow up is not very long yet.

Tronco común: variantes anatómicas, tratamiento quirúrgico y evolución / Truncus arteriosus, anatomy, surgical treatment, follow up

OBJECTIVE: To evaluate through a retrospective cohort the anatomy and results of patients that were operated of truncus arteriosus. MATERIAL AND METHODS: Historic cohort. From January 2000 to December 2005 twenty eight patients with troncus arteriosus were operated. RESULTS: There were fifteen male (53.6%) and 13 female patients (46.4%). The median age, at the time of the surgery, was 10.5 months. The median weight, at the time of the surgery was 6 kg. All the patients were dominant aortic. A woven-dacron tube was used in 25 cases, Hanckock to 2 and Barbero Marcial procedure in one. The media diameter for the tube for the 27 patients (96.4%) was of 14 +/- 2 mm. Two patients required aortic valvular replacement at the same time of the surgery and two more during follow up, after the first surgery. Fifty per cent of the patients had pulmonary hypertension crisis after de surgery. There were three deaths: one patient had cardiogenic shock; another had pulmonary hypertension and one more had obstruction of the traqueostomy cannula. During study monitoring, 3 patients (10.7%) needed interventionist procedures. One case needed dilatation of the tube and two cases needed dilatation of the pulmonary branches to implant a stent device. There has been one tube change 4.2 years after the correction. Actuarial survival after 30 days was of 96.42%, and 88.9% after one and five years. CONCLUSIONS: The surgical correction of the truncus arteriosus has allowed changing the natural history of this disease. Mortality is low however our follow up is not very long yet.

Comparación de dos protocolos de sincronización del estro en vaquillas de carne con distintas calificaciones de tracto reproductivo / Comparison of two protocols of synchronization of the estro in meat heifers with different qualifications of reproductive tract

Para comparar dos protocolos de sincronización del estro (MGA + PGF2 alfa y Crestar) en vaquillas de carne, se utilizaron 28 animales de 15-18 meses, clasificados según su clasificación del tracto reproductivo (RTS) en A: RTS 2-3 (n=14), y B: RTS 4-5 (n=14). A y B se dividieron a su vez en dos, formando cuatro grupos de siete animales: MGA + PGF2 alfa, RTS A (1A) o B (1B); Crestar, RTS A (2A) o B (2B). El primer protoco loincluyó administración oral de MGA por 14d y PGF2 alfa i.m19d después. El segundo consistió en 3mg de norgestomet más 5mg de valerato de estradiol i.m, junto con un implante s.c. con 3mg de norgestomet durante 9d. Al final de los protocolos las vaquillas fueron inseminadas artificialmente a estro detectado. Se evaluaron: presentación del estro en respuesta al protocolo, intervalo fin del protocolo a presentación del estro sincronizado, gestación al primer estro sincronizado, concepción al final de la época de empadre, e inducción de la ciclicidad de cada protocolo. Se aplicaron pruebas de "t" student, Ji-cuadrada y Exacta de Fisher. El grupo 1B presentó más (P<0,10) vaquillas en estro (100 por ciento) que los otros grupos (85,7 por ciento). El intervalo fin del protocolo a presentación de estro fue mayor (P<0,05) para el grupo 2B (34 ± 9,03h) que para los demás, y fue mayor (p<0,05) en MGA + PGF2 alfa (69,2 ± 14,8h) que en Crestar (49 ± 31,7h). MGA + PGF2 produjo mayor (P<0,05) ciclicidad en vaquillas sin actividad ovárica con Cresta (100 vs. 14,2 por ciento). Ambos protocolos presentaron similar (P<0,10) por ciento de gestación al primer estro sincronizado (61,5 y 58,3 por ciento en MGA + PGF2 alfa y Crestar, respectivamente); sin embargo en grupo 1B (85,7 por ciento) fue mayor (P<0,10) que 1A (33 por ciento), 2B (66,6 por ciento) y 2A (50 por ciento). El porcentaje de gestación al final del empadre fue similar (P<0,10) en los cuatro grupos. Se concluye que el protocolo MGA + PGF2 alfa fue más eficáz en inducir actividad ovárica en animales que no estaban ciclando, y presentó mejores resultados usando inseminación artificial en animales con RTS 4 o 5