Bilateral Anophthalmia in Dog Associated with Congenital Penile Malformation

Background: Anophthalmia refers to the complete absence of an eyeball. It is a very rare congenital condition that affects all breeds of dogs, which may be unilateral or bilateral. Anophthalmia results from a severe developmental deficiency in the primitive forebrain, prior to the formation of the optic sulcus. This condition has a complex etiology, and chromosomal, monogenic, and environmental causes have already been identified. There might be an association between anophthalmia and other congenital abnormalities. This case report aimed to report the case of a male dog with bilateral anophthalmia associated with penile malformation. Case: A 3-year-old male mongrel dog was evaluated in a clinical consultation at the Veterinary Medical Teaching Hospital of the Federal University of Piauí (UFPI) - Teresina - Brazil, with signs of anemia and diarrhea. His vaccinations were not up to date (multiple and anti-rabies), presented ectoparasites (ticks), and showed inappetence. The owner reported that the animal was blind from birth, was already well adapted to its environment, had the company of other animals, and had no access to the street. On clinical examination, the animal had a good body score. The eyelids were bilaterally present with normally developed eyelashes. Both the head and face had a symmetrical appearance, without structural abnormalities, and the palpebral fissures were narrow. When opening the eyelids manually, the presence of the conjunctiva was observed bilaterally, the orbits were shallow, and neither orbit contained the eyeball. Further inspection with an ophthalmic clinical flashlight did not reveal any other ocular structures. The initial diagnosis was suggestive of bilateral anophthalmia. Ultrasound examination of the ocular region confirmed the presence of bilateral anophthalmia. A general physical examination revealed a malformed penis with a persistent penile frenulum. Regarding systemic clinical signs (apathy, inappetence, diarrhea, and anemia), clinical and laboratory examinations led to the suspicion of verminosis. Discussion: The dog in this report had a good body score; however, this type of malformation can generate non-viable puppies. Anophthalmia is an extremely rare congenital ocular malformation, both in humans and companion animals, in which there are no ocular structures in the orbits, and these structures (orbits) in affected individuals are generally small and shallow, as seen in the dog in this report. Ultrasonographic examination confirmed the bilateral anophthalmic condition, being the most accurate method of diagnosing this congenital condition. The animal in this report presented with anophthalmia associated with penile malformation. This type of association until this case report has only been described in humans and mice, and is probably caused by a mutation in the Sox2 gene, which is responsible for the protein of the same name, which makes the maturation of ocular tissues in the primitive forebrain. Thus, it is likely that such congenital alterations are the cause of the malformations observed in this animal. Maternal vitamin A deficiency, a factor known to cause ocular malformations, may also be involved in the etiology of congenital diseases. Nutritional imbalances in dogs are common in the animal’s region of origin The dog in this report had a normal life. Although it is a condition that causes blindness, dogs can have a normal life and welfare, even with bilateral anophthalmia. Keywords: canine, persistence penile frenulum, eye, congenital anomalies. Título: Bilateral Anophthalmia in Dog Associated with Congenital Penile Malformation. Descritores: canino, doenças animais, genética, anomalias congênitas

Modeling complex metabolic reactions, ecological systems, and financial and legal networks with MIANN models based on Markov-Wiener node descriptors

[Abstract] The use of numerical parameters in Complex Network analysis is expanding to new fields of application. At a molecular level, we can use them to describe the molecular structure of chemical entities, protein interactions, or metabolic networks. However, the applications are not restricted to the world of molecules and can be extended to the study of macroscopic nonliving systems, organisms, or even legal or social networks. On the other hand, the development of the field of Artificial Intelligence has led to the formulation of computational algorithms whose design is based on the structure and functioning of networks of biological neurons. These algorithms, called Artificial Neural Networks (ANNs), can be useful for the study of complex networks, since the numerical parameters that encode information of the network (for example centralities/node descriptors) can be used as inputs for the ANNs. The Wiener index (W) is a graph invariant widely used in chemoinformatics to quantify the molecular structure of drugs and to study complex networks. In this work, we explore for the first time the possibility of using Markov chains to calculate analogues of node distance numbers/W to describe complex networks from the point of view of their nodes. These parameters are called Markov-Wiener node descriptors of order kth (Wk). Please, note that these descriptors are not related to Markov-Wiener stochastic processes. Here, we calculated the Wk(i) values for a very high number of nodes (>100,000) in more than 100 different complex networks using the software MI-NODES. These networks were grouped according to the field of application. Molecular networks include the Metabolic Reaction Networks (MRNs) of 40 different organisms. In addition, we analyzed other biological and legal and social networks. These include the Interaction Web Database Biological Networks (IWDBNs), with 75 food webs or ecological systems and the Spanish Financial Law Network (SFLN). The calculated Wk(i) values were used as inputs for different ANNs in order to discriminate correct node connectivity patterns from incorrect random patterns. The MIANN models obtained present good values of Sensitivity/Specificity (%): MRNs (78/78), IWDBNs (90/88), and SFLN (86/84). These preliminary results are very promising from the point of view of a first exploratory study and suggest that the use of these models could be extended to the high-throughput re-evaluation of connectivity in known complex networks (collation)

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or  ≥90 mm Hg diastolic blood pressure). Even small increments in blood pressure are associated with an increased risk of cardiovascular events. This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function. We also observed associations with blood pressure in East Asian, South Asian and African ancestry individuals. Our findings provide new insights into the genetics and biology of blood pressure, and suggest potential novel therapeutic pathways for cardiovascular disease prevention

Bilateral Anophthalmia in Dog Associated with Congenital Penile Malformation

Background: Anophthalmia refers to the complete absence of an eyeball. It is a very rare congenital condition that affects all breeds of dogs, which may be unilateral or bilateral. Anophthalmia results from a severe developmental deficiency in the primitive forebrain, prior to the formation of the optic sulcus. This condition has a complex etiology, and chromosomal, monogenic, and environmental causes have already been identified. There might be an association between anophthalmia and other congenital abnormalities. This case report aimed to report the case of a male dog with bilateral anophthalmia associated with penile malformation. Case: A 3-year-old male mongrel dog was evaluated in a clinical consultation at the Veterinary Medical Teaching Hospital of the Federal University of Piauí (UFPI) - Teresina - Brazil, with signs of anemia and diarrhea. His vaccinations were not up to date (multiple and anti-rabies), presented ectoparasites (ticks), and showed inappetence. The owner reported that the animal was blind from birth, was already well adapted to its environment, had the company of other animals, and had no access to the street. On clinical examination, the animal had a good body score. The eyelids were bilaterally present with normally developed eyelashes. Both the head and face had a symmetrical appearance, without structural abnormalities, and the palpebral fissures were narrow. When opening the eyelids manually, the presence of the conjunctiva was observed bilaterally, the orbits were shallow, and neither orbit contained the eyeball. Further inspection with an ophthalmic clinical flashlight did not reveal any other ocular structures. The initial diagnosis was suggestive of bilateral anophthalmia. Ultrasound examination of the ocular region confirmed the presence of bilateral anophthalmia. A general physical examination revealed a malformed penis with a persistent penile frenulum. Regarding systemic clinical signs (apathy, inappetence, diarrhea, and anemia), clinical and laboratory examinations led to the suspicion of verminosis. Discussion: The dog in this report had a good body score; however, this type of malformation can generate non-viable puppies. Anophthalmia is an extremely rare congenital ocular malformation, both in humans and companion animals, in which there are no ocular structures in the orbits, and these structures (orbits) in affected individuals are generally small and shallow, as seen in the dog in this report. Ultrasonographic examination confirmed the bilateral anophthalmic condition, being the most accurate method of diagnosing this congenital condition. The animal in this report presented with anophthalmia associated with penile malformation. This type of association until this case report has only been described in humans and mice, and is probably caused by a mutation in the Sox2 gene, which is responsible for the protein of the same name, which makes the maturation of ocular tissues in the primitive forebrain. Thus, it is likely that such congenital alterations are the cause of the malformations observed in this animal. Maternal vitamin A deficiency, a factor known to cause ocular malformations, may also be involved in the etiology of congenital diseases. Nutritional imbalances in dogs are common in the animal’s region of origin The dog in this report had a normal life. Although it is a condition that causes blindness, dogs can have a normal life and welfare, even with bilateral anophthalmia. Keywords: canine, persistence penile frenulum, eye, congenital anomalies. Título: Bilateral Anophthalmia in Dog Associated with Congenital Penile Malformation. Descritores: canino, doenças animais, genética, anomalias congênitas