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1.
Int J Mol Sci ; 25(5)2024 Feb 26.
Article in English | MEDLINE | ID: mdl-38473952

ABSTRACT

The genetic diversity analysis of six dog breeds, including Ca de Bestiar (CB), Ca de Bou (CBOU), Podenco Ibicenco (PI), Ca Rater (CR), Ca Mè (CM), and Ca de Conills (CC), reveals insightful findings. CB showcases the highest mean number of alleles (6.17) and heterozygosity values, with significant deviations from Hardy-Weinberg equilibrium (HWE) observed in five markers, indicating high intra-racial genetic diversity (average observed heterozygosity (Ho) = 0.754, expected heterozygosity (He) = 0.761). In contrast, CBOU presents the lowest mean number of alleles (5.05) and heterozygosity values, coupled with moderate polymorphic information content (PIC) values and a moderate level of intra-racial genetic diversity (average Ho = 0.313, He = 0.394). PI demonstrates moderate genetic diversity with an average of 5.75 alleles and highly informative PIC values, while CR displays robust genetic diversity with an average of 6.61 alleles and deviations from equilibrium, indicating potential risks of inbreeding (average Ho = 0.563, He = 0.658). CM exhibits moderate genetic diversity and deviations from equilibrium, similar to CBOU, with an average of 6.5 alleles and moderate PIC values (average Ho = 0.598, He = 0.676). Conversely, CC shows a wider range of allelic diversity and deviations from equilibrium (average Ho = 0.611, He = 0.706), suggesting a more diverse genetic background. Inter-racial analysis underscores distinct genetic differentiation between breeds, emphasizing the importance of informed breeding decisions and proactive genetic management strategies to preserve diversity, promote breed health, and ensure long-term sustainability across all breeds studied.


Subject(s)
Genetic Variation , Microsatellite Repeats , Animals , Dogs , Inbreeding , Genetic Drift , Genetic Markers , Alleles , Molecular Biology
2.
Animals (Basel) ; 14(4)2024 Feb 16.
Article in English | MEDLINE | ID: mdl-38396607

ABSTRACT

This study delves into the complex relationships between indigenous dog breeds in the Balearic Isles and their human counterparts, specifically breeders and owners. Using Canonical Correlation Analysis, the research examines variables such as breed registries and the number of breeders/owners, uncovering significant correlations within registries. For example, an increase in female auxiliary registrations corresponds to a decline in foundational registrations, indicating shifts in breed documentation dynamics. Similarly, a rise in definitive female registrations coincides with a decrease in foundational female registrations, suggesting increased pedigree awareness across generations. Beyond registries, the study explores the correlation between breeders/owners and various initial records, highlighting that a notable increase in breeders positively influences initial registrations, definitive totals, and overall counts, underscoring their crucial role in early breed stages. Gender preferences in registrations are noted, with a historical bias towards female entries during foundational stages gradually shifting in favor of males in definitive registrations. In conclusion, the research underscores the interconnected roles of breeders, owners, and comprehensive registries in preserving genetic diversity among Balearic dog breeds, emphasizing the need for ongoing efforts to address gaps in genealogical data for a more accurate understanding of breed dynamics.

3.
Radiol Case Rep ; 17(11): 4362-4364, 2022 Nov.
Article in English | MEDLINE | ID: mdl-36188072

ABSTRACT

Schwannomas are peripheral nerve sheath tumors. Due to their low incidence, few cases of colorectal schwannomas have been published, which increases the diagnostic challenge. The aim of this case report is to discuss the role of transvaginal ultrasound in different areas than the gynecological disorders, when on hands of properly trained professionals that perform systematized procedures. A 56-year-old woman consulted for postmenopausal genital bleeding. During transvaginal ultrasound, a colonic solid, hypervascularized mass of 23 × 26 mm was visualized. As a result of this incidental finding, the patient underwent a sigmoidectomy, with a final diagnosis of intestinal schwannoma. Transvaginal ultrasound is today one of the most useful and accurate diagnostic tools in the assessment of gynecological disorders. However, the proximity of other pelvic structures makes it possible to evaluate the presence of nongynecological conditions. This fact should encourage gynecologists to systematize the transvaginal ultrasound procedure.

4.
Animals (Basel) ; 12(20)2022 Oct 11.
Article in English | MEDLINE | ID: mdl-36290119

ABSTRACT

Ca Rater Mallorquí is a dog breed from the Island of Mallorca (Spain) traditionally used as a hunting and ratting dog to prevent disease spread and economic losses related to rodent activities on farms. However, the census data shows a population decline that should be addressed by implementing a conservation program. The first step to implementing a conservation plan is knowing the genetic situation of the Ca Rater Mallorquí population. Therefore, we aimed to genetically characterise the breed in our study. We analysed 33 microsatellites recommended by the International Society of Animal Genetics (ISAG) in 77 samples. Data were obtained from 13 samples of Balearic, Spanish, and international dog breeds to study the genetic diversity among breeds. The population did not significantly deviate from the Hardy-Weinberg equilibrium with heterozygosity (Ho) of 0.655 and expected heterozygosity (He) of 0.685. The Wright's fixation indices, the Factorial Correspondence Analysis (FCA), a dendrogram representing Reynolds genetic distance between populations, and the pairwise FST values establish the Ca Rater Mallorquí as an independent breed distinct from the Balearic, Spanish, and international breeds.

5.
Animals (Basel) ; 10(10)2020 Oct 16.
Article in English | MEDLINE | ID: mdl-33081143

ABSTRACT

Despite the undefinition of the origins of Ca de Rater (CR) and Ca de Bestiar (CB) dogs, references to these endangered autochthonous breeds highlighted their ratting/pet and shepherding/guard skills for centuries. Genealogical historical records were traced back to founders. Founder number in the reference population (146 and 53 for CR and CB, respectively), historical and reference maximum generations traced (eight and seven for CR and CB, respectively), and historical average number of complete generations (1.04 for both breeds) were determined. Structure assessment revealed the existence of subpopulations regarding criteria such as breeders (75 and 17), breeder location (32 and eight), owners (368 and 198), and owner location (73 and 51) for CR and CB, respectively. Average inbreeding (F) within breed subpopulations ranged from 0.27-1.20% for CB breeders and the rest of subpopulation criteria for both breeds, respectively, except for CB owners and owner location. F ranged from 0.27-1.41% for CB historical population and CR current population, respectively. The study of genetic diversity revealed a relatively similar genetic background between subpopulations. Average coancestry between and within breeds suggested a similar evolutionary process. However, Mann-Whitney U test determined significant differences for diversity parameters (F, ΔR, coancestry, nonrandom mating degree, maximum, complete, and equivalent generations, ΔF, and genetic conservation index) between breeds and their functionalities. Conclusively, functionality in dog breeds may determine the genetic diversity evolution of endangered breeds, even when these share the same geographic isolation conditions.

6.
Fertil Steril ; 102(6): 1608-12, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25256926

ABSTRACT

OBJECTIVE: To investigate the correlation between total and bioavailable serum 25-OH vitamin D and the pregnancy rate in recipients of donated oocytes. DESIGN: Retrospective study. SETTING: University-affiliated private IVF center. PATIENT(S): A total of 267 patients who were referred to our clinic for oocyte donation from June 2013 to December 2013. INTERVENTION(S): Serum analysis of vitamin D and bioavailable vitamin D and reproductive outcomes. MAIN OUTCOME MEASURE(S): Pregnancy and implantation rate. RESULT(S): Among all patients, 15.3% (n = 41) were vitamin D replete (vitamin D >30 ng/mL), 50.2% (n = 134) had vitamin D deficiency (20-30 ng/mL), and 34.4% (n = 92) had insufficient vitamin D (<20 ng/mL). Implantation rates were similar among patients with normal, insufficient, or deficient total serum 25-OH vitamin D levels (61%, 63.4%, and 65.2%, respectively). Pregnancy rates did not differ among the three groups (70%, 69.9%, and 73.9%). Ongoing pregnancy rates were also comparable among the three groups (55.9%, 52.7%, and 60.7%). The predictive value of total vitamin D regarding pregnancy rate was analyzed by the receiver operating characteristic curve, and the area under the curve (AUC) was 0.468. The AUC for bioavailable 25-OH vitamin D was 0.499, showing that the analysis of the AUC for vitamin D or bioavailable vitamin D was not informative. CONCLUSION(S): Vitamin D insufficiency and deficiency are frequent conditions in our southern European infertile population. In contrast to previous studies, patients who are not vitamin D replete do not have a decreased chance of becoming pregnant with egg donation. Bioavailable 25-OH vitamin D, which is a better marker of the status than total 25-OH vitamin D, does not correlate with pregnancy rate in recipients of donated oocytes. Thus, at this stage, there is insufficient evidence to recommend vitamin D screening in patients undergoing egg donation.


Subject(s)
Oocyte Donation , Pregnancy Rate , Vitamin D Deficiency/physiopathology , Vitamin D/blood , Adult , Embryo Implantation , Female , Humans , Infertility, Female/blood , Middle Aged , Pregnancy , ROC Curve , Retrospective Studies , Vitamin D/pharmacokinetics
7.
Fetal Diagn Ther ; 31(1): 12-8, 2012.
Article in English | MEDLINE | ID: mdl-22178749

ABSTRACT

OBJECTIVE: To analyze mid-term neurodevelopment outcome in children with isolated mild ventriculomegaly (VM) ≤12 mm diagnosed in fetal life, using the Battelle Developmental Inventory Screening Test (BDIST). METHODS: 86 cases of mild VM were identified. 68 were excluded due to: other cerebral anomalies (n = 40), extra-cerebral anomalies (n = 3), chromosomal defects (n = 4), dysmorphic syndromes (n = 4), congenital infections (n = 2), termination of pregnancy (n = 9), stillbirth (n = 2) and incomplete follow-up (n = 4). 18 cases (range 1-8 years) of isolated mild VM were included for analysis. Seven neurodevelopment domains were assessed by BDIST. RESULTS: Routine neuropediatrical evaluation detected neurological disorders in five children (28%; 3 with language impairment, one left hemiparesis and one intellectual retardation). BDIST showed some degree of neurodevelopmental delay in higher proportions: 66% in social-personal skills, 56% in gross motor skills, 39% in adaptive behavior and 28% in fine motor skills. Communicative and cognitive areas were the least affected (11 and 22% had moderate-to-severe involvement, respectively). A general trend towards worse outcomes was observed in the group of ≥4 years, although significant differences were only found for gross motor skills. CONCLUSION: Subtle neurological delays may appear during the infant period in fetuses prenatally diagnosed of isolated mild VM. In consequence, adequate measures should be established for early detection and treatment.


Subject(s)
Child Development , Hydrocephalus/diagnosis , Prenatal Diagnosis , Child , Child, Preschool , Female , Humans , Hydrocephalus/complications , Infant , Male , Nervous System Diseases/diagnosis , Nervous System Diseases/etiology , Neurologic Examination , Pregnancy , Retrospective Studies
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