Partial Results Regarding the Genetic Determinism of Growth Process in a Native Horse Breed using Wither’s Height

Study of variability in domestic animal populations is the foundation of quantitative genetics. Based on statistical methods, the weights of the total phenotype variation that belong to its different fractions (causal components) are quantified: variation due to gene additive effect, variation due to allelic and non-allelic interactions, variation due to environment (general and special), variation due to genotype-environment interaction and possibly variation due to the association between genotype and environment. In this study, during 2017-2020, we used the method of analysis of variance with two sources of variation. The material was represented by 538 individuals from Hucul horse breed analyzed at 18, 30 and 42 months old). The heritability of character was 0.3402±0.1546 (18 months), 0.5549±0.2225 (30 months), 0.4506±0.1895 (42 months), suggest that this is a hereditary condition that follows a quantitative model of inheritance, where the influence of additive genetic factors is moderate to intense. We can conclude that, in this native breed and for this character, a significant share of the phenotypic value is due to the additive effect of genes.

Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings

Gyrate atrophy is a hereditary condition characterized by ornithine amino transferase deficiency related large areas of retinal pigment epithelium and choriocapillaris lobular shaped atrophy in the peripherial retina. In this report, we present a case of atypical presentation of gyrate atrophy. The aim of this report is to present two siblings, one of which was associated with lamellar macular hole and with a history of previous diagnosis of retinitis pigmentosa. The delayed diagnosis of gyrate atrophy was made only after her brother, who was 5 years younger than her was diagnosed with gyrate atrophy. In addition, in this report, we evaluated gyrate atrophy in terms of multimodal imaging findings, differential diagnosis and treatment of macular complications.

Ayurveda and Modern View on “Inguinal Hernia” and its Therapeutic Management

Inguinal Hernia is described as Aantra Vruddhi in Ayurveda which is also considered as one amongst the 7 types of Vruddhi. Pathologically condition associated with displacement of internal organ in abdomen which ultimately protrudes outward, produces swelling and pain in abdominal region. Hernia mainly occurs in abdominal region and middle age people or elderly persons majorly get affected. Hereditary condition, prolong coughing, pressure during defecation, constipation, straining of abdominal muscles, lifting of heavy objects, obesity and retention of fluid in abdominal cavity, etc. are major causes of hernia. The symptoms involve hard protrusion, soft lumps, swelling and pain, etc. Vata Vriddhi chikitsa, Agni karma, Sneha, Upanaha, Vatahara pralepa and Ayurveda formulations, etc. are some approaches which helps in the management of hernia. Modern science mainly described uses of surgical approaches and pain reliving medicines for managing such types of conditions.

The Use of Smartphone Technology to Improve the Health of Sickle Cell Patients

Sickle cell disease (SCD) is a serious health issue in society. The United State continues to register a large number of people affected by the disease. Due to the prevalence and severity of this hereditary condition, reliable and effective monitoring and prevention systems are needed. Smartphone technologies have the potential of improving health outcomes of people with SCD by promoting the empowerment and health literacy of people with SCD who live in underserved communities. The vast adoption of smartphones in the country provides an opportunity for the implementation of applications to support current healthcare systems. Mobile applications provide an opportunity to reform the healthcare sector by mitigating cost, yet maximizing accessibility, safety, and quality of care. The study aimed to provide insights into the use of smartphone technology and its impact on improving the health of SCD patients. A literature analysis methodology was adopted. The study found that smartphones provide enhanced means of sharing data and collaborating. The benefits of using smartphones in SCD management included pain tracking and monitoring, reinforcing treatment guidelines, and patient education.

Imaging in Gorlin–Goltz Syndrome with Emphasis on Diffusion-Weighted Imaging

Nevoid basal cell carcinoma syndrome is a hereditary condition associated with a wide range of developmental anomalies as well as increased risk of certain neoplasms. It is more commonly known as Gorlin–Goltz syndrome (GGS). We report a case of GGS with classic clinical and imaging findings of multiple odontogenic keratocysts (OKCs) in the jaw, calcification of falx cerebri, and bifid ribs. The findings of restricted diffusion within OKCs on diffusion-weighted imaging are also described.

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort

Nanophthalmos is a rare condition defined by a small, structurally normal eye with resultant high hyperopia. While six genes have been implicated in this hereditary condition (MFRP, PRSS56, MYRF, TMEM98, CRB1,VMD2/BEST1), the relative contribution of these to nanophthalmos or to less severe high hyperopia (≥ + 5.50 spherical equivalent) has not been fully elucidated. We collected probands and families (n = 56) with high hyperopia or nanophthalmos (≤ 21.0 mm axial length). Of 53 families that passed quality control, plausible genetic diagnoses were identified in 10/53 (18.8%) by high-throughput panel or pooled exome sequencing. These include 1 TMEM98 family (1.9%), 5 MFRP families (9.4%), and 4 PRSS56 families (7.5%), with 4 additional families having single allelic hits in MFRP or PRSS56 (7.5%). A novel deleterious TMEM98 variant (NM_015544.3, c.602G>C, p.(Arg201Pro)) segregated with disease in 4 affected members of a family. Multiple novel missense and frameshift variants in MFRP and PRSS56 were identified. PRSS56 families were more likely to have choroidal folds than other solved families, while MFRP families were more likely to have retinal degeneration. Together, this study defines the prevalence of nanophthalmos gene variants in high hyperopia and nanophthalmos and indicates that a large fraction of cases remain outside of single gene coding sequences.

Investigation of pathological haemorrhage in Maine Coon cats

ObjectiveAfibrinogenaemic haemorrhage was previously reported in a Maine Coon cat. Two littermates subsequently died from surgical non-haemostasis, suggesting a hereditable coagulopathy.MethodsWe prospectively recruited cats which were: a) Maine Coons with pathological haemorrhage (group 1, n=8), b) healthy familial relatives of group 1 (group 2, n=13) and c) healthy Maine Coons unrelated to groups 1 and 2 (group 3, n=12). Coagulation tests: prothrombin time, activated partial thromboplastin time and thrombin clotting time (TCT) were performed on citrated plasma along with quantification of fibrinogen. Routine haematological examination was performed on EDTA-anticoagulated blood collected contemporaneously.ResultsThirty-three blood samples were analysed. Fibrinogen concentrations were significantly reduced in groups 1 (P<0.01) and 2 (P<0.01) compared with group 3. Similarly, TCT was found to be significantly extended in group 1 (P<0.01) and group 2 (P=0.02) with respect to group 3.ConclusionsDysfibrinogenaemia was identified in clinical cases and their healthy relatives, suggesting that this may represent a hereditary condition of Maine Coon cats. Clinicians should be aware of the increased potential for non-haemostasis in this cat breed and consider assessing clotting function before (elective) surgery.

Congenital true leukonychia totalis

<p>Congenital true leukonychia totalis is very rare hereditary condition characterized by milky white discoloration of all nails. It has mainly autosomal dominant mode of inheritance and autosomal recessive in few cases. It may be inherited or associated with systemic disease or idiopathic. It has been linked to the mutations in PLCD1 gene on chromosome 3p21.3-p22. Leukonychia totalis is associated with multiple systemic diseases such as congenital hyperparathyroidism, Hodgkin's lymphoma, Leopard syndrome, Epiphyseal dysplasia syndrome, Bart Pumphrey syndrome etc. we report a case of sporadic congenital leukonychia totalis in a 24 years female without any systemic abnormalities.</p>

Full Mouth Fixed Rehabilitation of a Young Adult with Ectodermal Dysplasia: Making Mountain Out of a Molehill in The Literal Sense

The personality of an individual is often judged by his looks. A beautiful smile brings immense pleasure, not only to the viewer but also to the wearer of the smile. Time and again in dentistry, esthetics has been the prime area of focus. Prosthodontic rehabilitation also involves esthetics as its key factor, which is challenging especially in patients with congenital diseases or syndromes. Ectodermal dysplasia is one such hereditary condition associated with failure of the development of ectoderm in the embryonic stage and can cause multiple abnormalities. The ectodermal structures like skin, nails, hair, sweat glands, and teeth are particularly affected. The management of ectodermal dysplasia is quite complex and multidisciplinary owing to the abnormal morphology in craniofacial structures, a wide array of dentofacial defects, and age of the affected individuals, as most of them are very young when they report for or are evaluated for treatment. The deciduous as well as the permanent dentition in these patients may present with anodontia, hypodontia or oligodontia or combination of these. Hypodontia is one of the most common intraoral finding among these scenarios. Therefore, the affected patients obviously require absolute attention towards prosthodontic treatments throughout their developmental years till their adulthood. This report presents a case of an adult diagnosed with having ectodermal dysplasia with hypodontia. By appropriate modification and customization, the prosthodontic management was meticulously planned for the young patient which involved a full mouth rehabilitation with tooth supported fixed prosthesis in the maxillary and mandibular arch. The devised treatment plan had a key impact on the psychological, the masticatory function, speech and facial esthetics of the patient.