Unraveling inbreeding patterns and selection signals in Alpine Grey cattle.

Inbreeding plays a crucial role in livestock breeding, influencing genetic diversity and phenotypic traits. Genomic data have helped address limitations posed by incomplete pedigrees, providing deeper insights into breed genetic diversity. This study assesses inbreeding levels via pedigree and genomic approaches and analyzes old and recent inbreeding using runs of homozygosity (ROH), and selection signals in Alpine Grey cattle. Pedigree data from 165 575 individuals, analyzed with INBUPGF90 software, computed inbreeding coefficients. Genomic-based coefficients derived from PLINK v1.9. or DetectRUNS R package analyses of 1 180 individuals' genotypes. Common single nucleotide polymorphisms within ROH pinpointed genomic regions, aggregating into "ROH islands" indicative of selection pressure. Overlaps with USCS Genome Browser unveiled gene presence. Moderate correlations (0.20-0.54) existed between pedigree and genomic coefficients, with most genomic estimators having higher (>0.8) correlation values. Inbreeding averaged 0.04 in < 8 Mb ROH segments, and 0.03 in > 16 Mb segments; > 90% of ROHs were < 8 Mb, indicating ancient inbreeding prevalence. Recent inbreeding proved less detrimental than in cosmopolitan breeds. Two major ROH islands on chromosomes 6 and 7 harbored genes linked to immune response, disease resistance (PYURF, HERC3), and fertility (EIF4EBP3, SRA1). This study underscores the need for detailed inbreeding analyses to understand genetic characteristics and historical changes in local breeds like Alpine Grey cattle. Genomic insights, especially from ROH, facilitated overcoming pedigree limitations, illuminating breed genetic diversity. Our findings reveal ancient inbreeding's enduring genetic impact and ROH islands potential for selective sweeps, elucidating traits in Alpine Grey cattle.

Uncovering genetic parameters and environmental influences on fertility, milk production, and quality in autochthonous Reggiana cattle.

Reggiana is a local cattle breed from northern Italy known for its rusticity and profitability, due to the production of branded Parmigiano Reggiano cheese. To ensure the persistence of such profitability in the long term, an adequate breeding program is required. To this aim, in the present study we estimate the genetic parameters of the main productive and reproductive traits, and we evaluate the effect of genotype by environment interaction (GxE) on these traits using 2 environmental covariates: (1) productivity and (2) temperature-humidity index (THI). Milk, fat, protein, and casein yield were considered as daily production traits, whereas protein, fat, casein percentage, casein index, and somatic cell score were considered as milk quality traits. Finally, reproductive traits such as the number of inseminations, days open, calving interval, and calving-to-first-insemination interval were evaluated. Reggiana cattle produce an average of 19 kg of milk per day with 3.7% fat and 3.4% protein content and have excellent fertility parameters. Compared with other breeds, they have slightly lower heritability for production and quality for production traits (e.g., 0.12 [0.09; 0.15] for milk yield), but similar heritability for fertility traits. Milk, protein, and fat daily yields are highly correlated but negatively correlated with the percentage of protein, fat, and casein, whereas fertility traits have an unfavorable genetic correlation with daily production traits. When considering productivity, a consistent amount of variability due to GxE was observed for all daily production traits, somatic cell count, and casein index. A modest amount of GxE was observed for fertility parameters, while the percentage of solid content showed almost no GxE effect. A similar situation occurred when considering the THI, but no GxE interaction was observed for reproduction traits. In conclusion, this study provides useful information for the implementation of accurate selection plans in this local breed, accounting for environmental plasticity measured through the consistent GxE interaction observed.

Bilateral testicular adrenal rest tissue in congenital adrenal hyperplasia: US and MR features.

We describe magnetic resonance (MR) and ultrasonography (US) features of bilateral testicular adrenal rest tissue in a 20-yr-old man with congenital adrenal hyperplasia (CAH). Scrotal ultrasonology detected bilateral homogeneous hypoechoic lesions with well-defined margins and without evidence of sound attenuation. MR is useful in defining the size of lesions, because the contrast resolution is better than with sonography and allows an accurate definition of the extent of disease. This case suggests that US evaluation should be included in periodical follow-up of patients with CAH, while MR may be used in the case of rapid increase in the size of the testicular mass.

Concurrent Plummer's disease and parathyroid adenoma. Diagnostic and therapeutic approaches to a difficult clinical problem.

When mild asymptomatic hypercalcemia occurs in a patient with hyperthyroidism, it may or may not be due to concurrent hyperparathyroidism and at times only the control of the hyperthyroidism will resolve the problem. Moreover, the presence of hyperfunctioning thyroid nodules will interfere with Tl-201/Tc-99m pertechnetate parathyroid scintigraphy. Initial treatment of hyperthyroidism with I-131 in this situation controls hyperthyroidism and permits successful localization of parathyroid adenomas, which may then be excised--a result that was achieved in three cases.

Localization of parathyroid enlargement: experience with technetium-99m methoxyisobutylisonitrile and thallium-201 scintigraphy, ultrasonography and computed tomography.

Technetium-99m methoxyisobutylisonitrile (MIBI), like thallium-201, has recently been introduced as a myocardial perfusion agent and is now also showing very promising results in parathyroid scintigraphy. The results of 201Tl/99mTc-pertechnetate and 99mTc-MIBI/99mTc-pertechnetate subtraction scintigraphy, ultrasonography and computed tomography are presented in a series of 43 patients operated on for hyperparathyroidism. All four imaging modalities were confirmed to be reliable, scintigraphy being the most accurate. Sensitivities ranged from 81% to 95%, that of 99mTc-MIBI being the highest. Moreover this tracer, which has more favourable physical and also biochemical properties, yielded images of superior quality. This allowed localization of the lesion by visual inspection only in as many as 86% of the patients with positive 99mTc-MIBI/99MTc-pertechnetate subtraction scintigraphy. We believe that the higher sensitivity, superior image quality and lower cost of 99mTc-MIBI imaging will make 99mTc-MIBI the new radiopharmaceutical of choice for parathyroid scintigraphy (when one take into account the stability of labelling with large activities it is possible to perform three or four cardiac studies together with one parathyroid scintigraphic examination using one lyophilized vial).

[Autoimmune polyendocrinopathy and chronic mucocutaneous candidiasis]. / Poliendocrinopatia autoimmune e candidiasi mucocutanea cronica.

A chronic mucocutaneous infection due to yeasts to the Candida genus can be part of the autoimmune polyglandular syndrome, described as APECS, APECED, SPA type I, CES. The authors describe the case of a young patient affected by mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. Chronic mucocutaneous candidiasis was diagnosed first in early childhood and was followed by the development of hypoparathyroidism (4 yrs) and adrenal insufficiency (5 yrs). The initial lesion of this syndrome is still unknown as the reason of the marked susceptibility to mucocutaneous candidiasis without systemic candidiasis. The treatment of mucocutaneous candidiasis has been improved by the introduction of orally active antifungal drugs as Ketoconazole, first, and fluconazole now.

Idiopathic anterior hypopituitarism: magnetic resonance imaging and clinical correlation.

We describe the anatomical abnormalities in the hypothalamic-pituitary region revealed by magnetic resonance imaging (MRI) in 10 patients, 8 men and 2 women, affected by idiopathic anterior hypopituitarism (IAH). In all cases contiguous sagittal and coronal T-1 weighted images were obtained. In 9 patients the high-intensity posterior lobe was missing, in almost all patients the pituitary stalk was thin and/or transected, and in 8 a bright T-1 nodule was detected at the infundibular apex, near the tuber cinereum, in the median eminence. None had diabetes insipidus. MRI proves to be very useful in understanding the etiopathogenesis of IAH.

[Mixed gonadal dysgenesis (MGD). Description of a case]. / Disgenesia gonadica mista (DGM). Descrizione di un caso.

The Authors report a case of mixed gonadal dysgenesis (DGM), with a mosaic karyotype consisting of two cell lines, one with 45 chromosomes and monosomic X (50%), the other with 46 chromosomes and one Y dicentric chromosome (50%). The patient presents a male phenotype, hypospadias (3rd degree), left cryptorchidism, hypotrophic right testis, short stature and a gonadal asymmetry.

[Changes in secretion of prolactin in obesity]. / Alterata secrezione della prolattina nella obesità.

The purpose of this study was to evaluate prolactin secretion in obesity. Basal level of serum prolactin and prolactin response after thyrotropin releasing hormone (TRH) were investigated in 20 obese patients and 20 healthy subjects well matched for age and sex. Obese patients had higher basal levels of serum prolactin than those of healthy subjects. Conversely, no significant difference in serum prolactin concentration was found at any time during TRH stimulating test. However obese patients showed incremental areas of serum prolactin slightly, but not significantly, lower compared to healthy subjects, probably because their basal levels were higher. In conclusion, the present study confirms that prolactin secretion is altered in obese patients. The discrepancy between basal levels and prolactin response during TRH stimulating test seems to indicate a deficiency in the dopaminergic inhibitor system.

[Skin disease in Basedow's disease]. / La dermopatia del morbo di Basedow.

Two cases of Graves' (Basedow) dermopathy are reported. In one case pretibial myxoedema was localized on the external surface of the legs down to insteps. In the second case a diffuse form involved both legs and was characterized by wrinkles and peau d'orange appearance at the ankles. In both cases a biopsy confirmed the diagnosis of Graves' dermopathy, showing diffuse areas of amorphus substance infiltrating the derma and fragmentation of collagen fibers. According to the literature, the skin lesions were associated with ophtalmopathy. Thyrostatic therapy affected ophtalmopathy in one of the patients, while pretibial myxoedema regressed in both. The pathogenesis of pretibial myxoedema is not completely clear yet, although dermopathy, along with ophtalmopathy and acropachy, is considered to be an extrathyroidal manifestation of Graves' disease related to bioassayble antibodies anti-TSH receptor. A class of dermopathy-associated antibodies (DAAb) has been identified. It seems to be a reliable biological marker for pretibial myxoedema since it is nearly absent in patients with ophtalmopathy and without dermopathy. Since DAAb does not stimulate human fibroblasts in culture, the role of DAAb in the development of Graves' dermopathy is still to be found.

Mixed-sclerosing-bone-dystrophy (osteopathia striata and osteopetrosis) and Cushing's syndrome.

We present a 33-year-old female patient with the unusual association of mixed sclerosing bone dysplasia and Cushing's syndrome. The patient had the classical features of cortisol overproduction and investigation showed bilateral adrenal adenomas and radiographic abnormalities in bone of osteopathia striata and osteopetrosis: the mixed-sclerosing-bone-dystrophy (MSBD).

Pseudo-Cushing's syndrome: an example of alcohol-induced central disorder in corticotropin-releasing factor-ACTH release?

Six chronic alcoholics with stigmata of Cushing's syndrome were studied before and after a period of alcohol abstinence. In all of them, after a minimum period of 3-4 weeks, a marked clinical and laboratory improvement was noted. The authors suggest that damage at brain level, with neurotransmitters' disturbance, caused by chronic alcoholism underlies the Pseudo-Cushing's Syndrome. The primum movens could be a disorder of the pituitary-adrenal axis secondary to a dysfunction of neurotransmitters with stimulation of ACTH-secreting cells of the adenohypophysis by the certicotropin-releasing factor (CRF).

[Implications of excessive use of alcoholic beverages in the treatment of diabetes mellitus. Importance of a personalized instruction program for the prevention of short-term complications]. / Implicazioni del consumo eccessivo di bevande alcooliche nel trattamento del diabete mellito. Importanza di un programma di "istruzione personalizzata" per prevenire le complicanze a breve termine.

According to the Authors the discussion of the relationships between alcohol and diabetes should be a main step within a "personalized" program for the education of the diabetic patient, especially in region where alcohol consumption is very high and deeply rooted in tradition, habits and social life. Therefore the Authors propose a teaching program based on 6 points, touching the most important aspects. That must be known in order to avoid, at least partially, the short period complications, connected with the relationship between diabetes mellitus and alcohol abuse.