Endomyocardial Fibrosis: Still a Mystery after 60 Years

The pathologist Jack N. P. Davies identified endomyocardial fibrosis in Uganda in 1947. Since that time, reports of this restrictive cardiomyopathy have come from other parts of tropical Africa, South Asia, and South America. In Kampala, the disease accounts for 20% of heart disease patients referred for echocardiography. We conducted a systematic review of research on the epidemiology and etiology of endomyocardial fibrosis. We relied primarily on articles in the MEDLINE database with either “endomyocardial fibrosis” or “endomyocardial sclerosis” in the title. The volume of publications on endomyocardial fibrosis has declined since the 1980s. Despite several hypotheses regarding cause, no account of the etiology of this disease has yet fully explained its unique geographical distribution

Radiations and male fertility

During recent years, an increasing percentage of male infertility has to be attributed to an array of environmental, health and lifestyle factors. Male infertility is likely to be affected by the intense exposure to heat and extreme exposure to pesticides, radiations, radioactivity and other hazardous substances. We are surrounded by several types of ionizing and non-ionizing radiations and both have recognized causative effects on spermatogenesis. Since it is impossible to cover all types of radiation sources and their biological effects under a single title, this review is focusing on radiation deriving from cell phones, laptops, Wi-Fi and microwave ovens, as these are the most common sources of non-ionizing radiations, which may contribute to the cause of infertility by exploring the effect of exposure to radiofrequency radiations on the male fertility pattern. From currently available studies it is clear that radiofrequency electromagnetic fields (RF-EMF) have deleterious effects on sperm parameters (like sperm count, morphology, motility), affects the role of kinases in cellular metabolism and the endocrine system, and produces genotoxicity, genomic instability and oxidative stress. This is followed with protective measures for these radiations and future recommendations. The study concludes that the RF-EMF may induce oxidative stress with an increased level of reactive oxygen species, which may lead to infertility. This has been concluded based on available evidences from in vitro and in vivo studies suggesting that RF-EMF exposure negatively affects sperm quality

Dose dependency of the serum bio/immuno GH ratio in children during pharmacological secretion tests.

Dissociation between GH bioactivity (bio-GH) and GH immunoactivity (immuno-GH) is due to the heterogeneity of the molecule: the measurements do not always provide reliable information on the bio-GH. We studied the ratio of bio-GH and immuno-GH during pharmacological secretion tests in 211 sera to study the concentration-response curve of the assay (Cl), 16 samples of normally growing subjects with idiopathic short stature (C2), 13 samples from patients with GH deficiency (GHD1) and 6 samples of 3 patients with GHD and normal provocative tests (GHD2). GH bioactivity was determined by the Nb-2 cell proliferation assay (bio-GH) and immuno-GH by a time-resolved immunofluorometric assay (IFMA) (immuno-GH). A non-linear negative relationship between the serum bio-GH/immuno-GH ratio and serum immuno-GH was observed in C1. In log-log plotting representation, two cut-off lines were drawn: a vertical cut-off line separating above-below cut-off serum peak immuno-GH values in provocative tests, and a diagonal cut-off line separating normal-abnormal serum bio-GH/immuno-GH ratio; four areas were defined. GHD1 had normal ratios, but below cut-off peak immuno-GH responses. P2 and P3 of Group GHD2 had abnormal ratios in samples with low serum immuno-GH but only P2 had autosomal dominant mutation. P1 had the same autosomal dominant isolated GHD as P2 but a low normal ratio. Our data underline the importance of relatively low serum GH concentrations in mediating GH biological actions. An abnormal serum bio-GH/immuno-GH ratio might explain certain cases of GHD and might be useful in detecting abnormal circulating isoforms of GH in patients with growth failure

A Novel Anti-Mullerian Hormone (AMH) Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome (PMDS) type 1

PMDS is an autosomic recessive disorder of sexual development caused by inactivating mutations in the AMH or the AMH receptor gene (PMDS type I and II respectively). This condition leads to the persistence of Müllerian duct derivatives in otherwise normally virilized 46,XY individuals. This clinical picture coexists with several degrees of testicular descent abnormalities and defects in male excretory ducts. Cryptorchidism is a usual presenting symptom. We report the clinical, biochemical, anatomical, and molecular features of a patient with PMDS type I. A 4.9-year-old boy was referred to us because of the incidental finding of Müllerian structures during laparoscopic assessment for bilateral non-palpable gonads. A rudimentary uterus with symmetrical fallopian tubes, and testis-appearing gonads in an ovarian-like position were found. Physical examination was unremarkable except for the absence of palpable gonads. Serum gonadotropins and testosterone levels were within the normal reference range for age and sex. Serum AMH level was undetectable (T) substitution in exon 1 (paternal allele), and a novel frameshift mutation p.Leu301ArgfsTer18 (c.902_929del) in exon 5 predicted to result in a premature stop codon 18 residues downstream the deletion (maternal all ele). This mutation is classified as pathogenic according to ACMG. A complex and two-staged bilateral orchidopexy was performed. The uterus fundus was partially sectioned in the midline in order to allow testicular descent into the scrotum trying to minimize the risk to the vasculature. Histological examination of both gonads revealed the presence of ectopic seminiferous tubules within the tunica albuginea in an otherwise normal prepubertal testicular tissue. Negative OCT3/4 immunoexpression in germ cells. Conclusion: We report a novel pathogenic frameshift mutation in exon 5 (c.902_929del) in a boy with PMDS type I classically presenting with bilateral cryptorchidism. Even though testicular biopsy is unnecessary, histological testicular features in this case showed signs of testicular dysgenesis. Close follow-up is mandatory to attempt to evaluate postsurgical testicular endocrine function as well as the possible long-term complications regarding malignancy and esterility/infertility.Fil: Mattone, María Celeste. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Lobo de la Vega, V.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: D'Alessandro, P.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Marino, R.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Perez Garrido, Natalia Isabel. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Galluzzo, M. L.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Costanzo, M.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Zaidman, Verónica. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Lazzati, Juan Manuel. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Berensztein, E,. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Ramírez, P.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Touzon, María Sol. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Ciaccio, M.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Belgorosky, Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Bailez, Marcela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaFil: Guercio, Gabriela Viviana. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; ArgentinaXXVII Latin American Meeting of Pediatric EndocrinologyFlorianópolisBrasilSociedad Latinoamericana de Endocrinología Pediátric