Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Duplicidad ungueal: a propósito de un caso

The intention of this article is to show the adopted therapeutic option in a clinical case of a congenital malformation of a duplication of the nail, with a revision of the affections, that like in the duplication of the nail, attends with the appearance of two complete nails in a same finger. In order to make a diagnosis differential between polysyndactyly, polyonychia and the duplication of the nail the examination of the bony structure turns out essential, the appearance of duplicated bony elements in all the finger, would characterize polysyndactyly; the bifid or bipartite distales phalange existence would be characteristic of polyonychia, and the absence of supernumerary bony elements the determinant of the duplication of the nail. Nevertheless, many authors denominate the appearance of supernumerary nails, polyonychia, without making any differentiation. Because of this, we include the radiological analysis made in the clinical case, that they were conclusive for the definitive diagnosis. The appearance of two complete nail units, with a lateral deviation towards the medial and lateral edges of the second right toe, it produced a deformity in the finger from the birth. Although the patient was diagnosed at the age of 15 months, we took the choice of waiting for 6 months to analyze if some of the two nail units, assumed a dorsal position and a greater size to make the biomechanic functions of the nail. The satisfactory results in a previously treated case, in which existed the same deformity, was determining to make a total resection of the nail located in the lateral edge and, at the same time, to make a resection of the surrounding tissues, that provide the finger a greater volume in the distal zone. The objectives of the surgery were to restore the biomechanic function of the nail, to make possible the use of normal footwear, to improve the aesthetic of the foot, and to prevent future affections. The result of the surgery was satisfactory, nevertheless lateral deviation towards the medial line, of the only existing nail and the absence of ossification of the distal phalange, make us foresee the necessity of orthotics and chiropody treatments in the future.El propósito de este artículo es mostrar la opción terapéutica adoptada en un caso clínico de una malformación congénita de duplicidad ungueal; a la vez que mostrar una revisión de las afecciones, que al igual que la duplicidad ungueal, cursan con la aparición de dos uñas completas en un mismo dedo. Para realizar un diagnóstico diferencial entre la polisindáctilia, la polioniquia y la duplicidad ungueal el examen de la estructura ósea resulta imprescindible, la aparición de elementos óseos duplicados en todo el dedo, caracterizaría la polisindactília; la existencia de falanges distales bífidas o bipartitas sería característico de la polioniquia y la ausencia de elementos óseos supernumerarios el determinante de la duplicidad ungueal, si bien muchos autores denominan la aparición de uñas supernumerarias polioniquia sin realizar diferenciación. Por ello mostramos el análisis de las radiografías realizadas en el caso clínico, que resultaron concluyentes para el diagnóstico definitivo. La aparición de dos unidades ungueales completas, lateralizadas hacía los bordes medial y lateral del segundo dedo del pie derecho, producía una deformidad en el dedo desde el nacimiento. A pesar de que el paciente asistió por primera vez a consulta a los 15 meses de edad, optamos por esperar 6 meses para analizar si alguna de las dos unidades ungueales adoptaba una posición dorsal y un mayor tamaño para realizar las funciones biomecánicas de la uña. El buen resultado en un caso tratado con anterioridad, en el que existía la misma deformidad, fue determinante para realizar una resección total de la uña situada en el borde lateral y al mismo tiempo realizar una resección de los tejidos circundantes, que dotaban al dedo de mayor volumen en la zona distal. Los objetivos de la intervención eran restablecer la función biomecánica de la uña, posibilitar el uso de calzado normal, mejorar la estética del pie y prevenir futuras afecciones. El resultado de la intervención quirúrgica fue satisfactorio, sin embargo la lateralización hacia medial de la única uña existente y la ausencia de osificación de la falange distal nos hacen prever la necesidad de aplicación de tratamientos quiropodológicos y ortopodológicos en un futuro

Measurement of colonic transit time in children

Transit times through the whole colon and its segments were measured in 10 healthy children and 14 children suffering constipation secondary to myelomenin-gocele. The subjects ingested radio-opaque markers on three successive days, and on the fourth a plain abdominal roentgenogram was taken using fast film. In the healthy children, total colonic transit time (mean ± SD) was 37.8 ± 6.2 h, with segmental times of 10.8 ± 3.5 h for the right colon, 12.2 ± 2.7 h for the left, and 14.7 ± 2.1 h for the rectosigmoid; upper normal limits of 17.8 h for the right colon, 17.6 h for the left, 19.1 h for the rectosigmoid, and 50.2 h for the total colonic transit time were established. In the constipated children, the total transit time was 59.9 ± 5.4 h, with segmental times of 15.9 ± 2.3 h for the right colon, 18.9 ± 2.3 h for the left, and 25.0 ± 2.6 h for the rectosigmoid. The technique described is simple, is easy to use in clinical practice, and involves a lower radiation dose than other methods. It may prove useful for measurement of colonic transit time in suitable patients. © 1991 Raven Press, Ltd. New York.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

A retrospective analysis of ingestion of caustic substances by children. Ten-year statistics in Galicia

We reviewed the case histories of 743 children seen at our hospital from 1981 to 1990 for suspected ingestion of caustic substances. Mean patient age was 27 months; 85% of patients were less than 3 years old. The male-to-female ratio was about 2:1. About 53% of patients were from urban environments. All ingestions appear to have been accidental. Of the 743 children, 20% presented oesophageal burns (11.8% first-degree, 3.1% second-degree and 2.7% third-degree). Alkaline products were ingested about 11 times more frequently than acid products. The substance ingested was bleach in 73% of cases. The most dangerous substances were dishwasher liquids/powders (59% of ingestions led to oesophageal burn), caustic soda (55%) and drain cleaners (55%). The caustic product was not in its original container in 75% of cases. Most accidents (58%) took place in the home. We did not detect any reliable predictive relationship between the presence of symptoms and signs and of oesophageal burns. Of the 743 patients, 5% developed oesophageal stricture and 3% required oesophageal dilatation. Conclusion: The incidence of accidents caused by the ingestion of caustic substances can only be reduced by broad-based preventive strategies, including enforcement of safe manufacturing practices and public education programmes. Most importantly, the containers for caustic household products should be cheap, small and childproof.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Relevance of herniography for accurate diagnosis of patent processus vaginalis in cryptorchidism

OBJECTIVE: To clarify the role of peritoneography in assessing the patency of processus vaginalis (PV) in pediatric patients diagnosed with cryptorchidism. MATERIALS AND METHODS: We designed a prospective clinical trial to evaluate the patency of PV in boys presenting cryptorchidism. Herniography was performed in 310 prepubertal boys. Data about the morphology of PV was compared with operative findings in those surgically treated patients. Retractile and ectopic testes were excluded from the study. RESULTS: Of the 376 undescended testes (310 patients), 281 cases were associated with an obliterated PV. Herniography revealed 95 cases of open PV in cryptorchid boys. The 244 normally descended testes had associated patent processus vaginalis in only 31 cases. CONCLUSIONS: Herniography is the most relevant procedure for accurate diagnosis of persistent PV. The persistence of PV was significantly more frequent when the position of the testes is more cranial. The incidence of an open PV decreases with age

A cross-sectional study of cryptorchidism in children: testicular volume and hormonal function at 18 years of age

Purpose To evaluate the relationship between unilateral or bilateral criptorchidism, patient age, primary location of the gonad and modality of treatment with testicular volume and hormonal status at 18 years in patients diagnosed and treated for cryptorchidism during childhood. Materials and Methods Testicular volume, LH, FSH, and testosterone were evaluated in 143 young men at 18 years treated in childhood for unilateral (n=103) or bilateral (n=40) cryptorchidism. Results Unilateral cryptorchidism: Location of testis was prescrotal in 36 patients, inguinal in 52 and non-palpable in 15. The mean volume was 9.7 mL compared to 16.2 mL. for the spontaneously descended testicle in unilateral cryptorchidism. However, 22 patients who received HCG had a significantly bigger testis (11.8 mL.) than those treated with primary surgery (9.2 mL). The results showed a significant positive correlation between testicular volume and patient age at treatment. Bilateral cryptorchidism Location of testis was prescrotal in 34 cases, inguinal in 40 and 6 patients with non-palpable testicles. Mean volume at 18 years was 12.9 mL, greater than unilateral cryptorchid testis (9.7 mL) but smaller than healthy contralateral in unilateral cases (16.2 mL). There were significant differences in the testicular growth for bilateral patients with testicular descent after being treated with HCG (14.4 mL) in respect with those untreated (11.1 mL) or those who underwent primary surgery (11.4 mL). There was a significant positive correlation between the testicular volume and palpable (12.4 mL) or non-palpable testis (10.4 mL). There was a correlation between unilateral or bilateral cryptorchidism and levels of FSH. Conclusions Testicular volume and hormonal function at 18 years for patients diagnosed and treated for cryptorchidism during childhood are strongly influenced by whether the undescended testis was unilateral or bilateral. Location of the testes at diagnosis or age of initial treatment exerts no definite effect on testicular volume improvement or hormonal levels at 18 years of age