hereditary nature
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2021 ◽  
Vol 8 ◽  
Author(s):  
Feriel Yasmine Mahiddine ◽  
Min Jung Kim

Cryptorchidism is a common congenital abnormality encountered in veterinary clinics. The treatment of choice for this condition is a surgical procedure named orchiectomy or orchidectomy, where the retained testicle is removed. Surgical placement and fixation of the cryptorchid testicle into the scrotum, referred to as orchiopexy, is used in humans. However, due to the hereditary nature of cryptorchidism in dogs, this treatment option has not been proposed in veterinary clinics. Two adult Poodle dogs were referred to our research facility for a sperm parameter evaluation check. The two dogs were unilateral cryptorchid dogs treated with orchiopexy before the age of 6 months. Their sperm kinematics and morphology were within normal ranges, and their libido and testicles sizes were normal. Treatment of unilateral cryptorchidism by orchiopexy in dogs before the age of 6 months successfully restored spermatogenic function and sperm quality-related parameters. However, due to the nature of this condition, orchiectomy remains the treatment of choice.


2021 ◽  
Vol 70 (3) ◽  
pp. 169-172
Author(s):  
Codruța Diana Petchesi ◽  
◽  
Gabriela Ciavoi ◽  
Claudia Jurca ◽  
Romana Vulturar ◽  
...  

Type I neurofibromatosis is one of the most common monogenic disorders, being caused by abnormalities of the neurofibromin gene on chromosome 17. About half of the cases are inherited, respecting the autosomal dominant inheritance criteria, the rest are de novo cases. The clinical manifestations are multisystemic and are progressively installed, presenting inter- and intra-familial variability of clinical expression. The hereditary nature, impaired quality of life and lethal potential identify numerous and various ethical dilemmas in the diagnosis, monitoring and treatment of neurofibromatosis type 1. Variable expressiveness and multisystemic clinical manifestations determine the unpredictable evolutionary character, associating bio-ethical dilemmas necessary to be managed in the clinical context of the disease. As a clinical applicability, we conclude that some of these problems could be avoided by informing and educating affected families about the disease, by increasing confidence in specialized services and by using molecular techniques in order to know as accurately as possible the genotype-phenotype correlation.


2021 ◽  
Vol 32 (4) ◽  
pp. 324-328
Author(s):  
A. A. Khasanov ◽  
G. M. Novikov

In this message we are talking about a well-expressed case of Recknghausen's disease, which we had the opportunity to observe in the autumn of last year. Without going into the details of the literary review of neurofibromatosis, we decided to focus on the analysis of our patient only because this case is interesting for its pronounced familial and hereditary nature of the disease and the presence of significant tumor sizes emanating from the plexus brachialis sin., Which caused severe suffering to the patient. and therefore demanded surgical intervention.


Author(s):  
Nataliya A. Kharitonova ◽  
Milana A. Basargina ◽  
Khadizhat S. Evloeva

The purpose of the work is comprehensive examination of a newborn with cholestasis syndrome to determine congenital hypopituitarism. Materials and methods. The child was hospitalized on the 30th day of his life. At admission, complaints were noted about the ictericity of the skin, low body weight gain, convulsive syndrome (history). Differential diagnosis was carried out between diseases such as: impaired liver function, against the background of the course of the infectious-inflammatory process; diseases of the liver and bile ducts of hereditary nature; congenital malformations of the bile tract; metabolic and hormonal disorders. Results. During the survey, the following deviations from the norm were obtained: in the biochemical analysis there was an increase in the level of transaminases, alkaline phosphatase, total and direct bilirubin, hypoglycemia. When evaluating the hormonal profile, an increase in the level of prolactin, thyroid hormone, a decrease in the level of T4 free, insulin, and a complete absence of cortisol were revealed. Magnetic resonance imaging (MRI) of the brain - a picture of subependymal nodes of gray matter heterotopia, ectopia of the neurophysis. Conclusions. Lowering glucose levels, especially when combined with cholestasis syndrome, may be an early but nonspecific sign of congenital hypopituitarism. Hypoglycemia in newborns occurs as a result of intrauterine insufficiency of somatotropic hormone and cortisol related to contrinsular hormones. Cortisol deficiency also contributes to the development of cholestasis syndrome by reducing the expression of tubule transport proteins that regulate bile secretion into bile tubules. In addition to studying the hormonal profile, a brain MRI is performed to verify the diagnosis. Patients with congenital hypopituitarism are characterized by the detection of characteristic signs: the picture of the “empty” or “partially empty” Turkish saddle, as well as the classic triad of symptoms: hypoplasia/pituitary leg aplasia, neurophysis ectopia, adenohypophysis hypoplasia. This clinical case demonstrates that cholestasis syndrome may lie in the debut of a more severe pathology. At the same time, early diagnosis and adequately selected hormone replacement therapy leads to a rapid cessation of life-threatening conditions and an improvement in the quality of life of the child.


2021 ◽  
Vol 25 (3) ◽  
pp. 91-95
Author(s):  
T. A. Siraeva ◽  
G. R. Sharafiev ◽  
R. F. Gatyatullin ◽  
E. A. Shtrangar ◽  
D. O. Chirikina ◽  
...  

BACKGROUND.  The article presents the case of a clinical and laboratory complex of a recurrent hormone-sensitive variant of nephrotic syndrome in a patient with leucinosis (maple syrup disease). THE AIM: to study the clinical laboratory features of nephrotic syndrome in a child with orphan disease – leucinosis. A PATIENT. A 4-year-old child born in a consanguineous marriage, who had previously been diagnosed with a rare genetic disease leucinosis, was examined. The manifestation of leucinosis began from the 8th day of birth. Based on the results of a molecular genetic study the diagnosis was pinpointed as leucinosis with an autosomal recessive mode of inheritance, classic neonatal (maple syrup disease). At the age of 4 the child developed a clinical and laboratory complex of nephrotic syndrome. RESULTS.  The onset of nephrotic syndrome was characterized by a hormone-sensitive course. After completion of the course of glucocorticosteroid therapy, there was a relapse because of acute respiratory infection which also turned out to be hormone-sensitive. Kidney function was not impaired. There were no crises of leucinosis due to nephrotic syndrome. CONCLUSION. Taking into account the development of nephrotic syndrome in a child with a genetically determined disease, a molecular genetic examination should be done to exclude the hereditary nature of the developed nephrotic syndrome. The examination is of great clinical importance for determining treatment tactics, cytostatic therapy, doing a kidney biopsy in order to determine the morphological form of glomerulonephritis, prognosis of progression to the end-stage renal failure.


2021 ◽  
Vol Volume 17 ◽  
pp. 1183-1194
Author(s):  
Charlene Bron ◽  
Heidi G Sutherland ◽  
Lyn R Griffiths
Keyword(s):  

2020 ◽  
Vol 15 (9) ◽  
pp. 1270-1277
Author(s):  
V.Y. Satskevich ◽  
◽  
A.G. Mamatova ◽  
A.S. Rykhlov ◽  
M.A. Kucheryavenkov ◽  
...  

According to the data provided by the Veterinary Hospital of the Saratov State Agrarian University, in the cities of Saratov, Balakovo and Engels, renal and heart failure in patients with endometritis and cats with pyometra were registered in 26.8-34.5% of all surveyed domestic animals. The results of abdominal echography, made by sick cats with pyometra and dogs with endometritis, showed the presence of renal failure of the following types: – 92.9% – glomerulonephritis, pyelonephritis; – 2.4% – focal diseases (cysts); in 4.7% – hydronephrosis. In this group of animals with pathologies were identified: – pyelonephritis, glomerulonephritis in 81.3%; – pathologies of a focal nature (cysts, masses) – in 4.0%; – pathologies of a hereditary nature – in 3.1%; – pathology of the collecting system, incl. hydronephrosis, nephrolithiasis in 10.7% and 0.9% of sick dogs and cats, respectively. Echographically, the signs of heart failure (pericarditis, endcardiosis) are fairly objectively detected in 60.6% of the examined patients with endometritis and in 73.5% of patients with pyometra. Moreover, the combination of renal and heart failure in sick dogs and cats is recorded in 56.79% of cases. In inflammatory diseases in dogs in this case with endometritis and cats with pyometra in acute form, ultrasound shows: an increase in size (especially dorsoventral); the contours of the kidneys are indistinct; cortico-medullary differentiation is weak; the thickness of the parenchyma is heterogeneous and uneven, the collecting system of the kidneys is expanded. Echographically, the signs of heart disease and heart failure are quite objectively detected (pericarditis – 23.97%, endcardiosis – 16.83%, arrhythmias of various origins – 44.2% and other diseases of the heart and vascular system – 14.0%), in 60, 6% of the examined sick dogs with endometritis and 73.5% of sick cats with pyometra. Moreover, the combination in sick dogs and cats of renal and heart failure is recorded in 56.79% of cases.


2020 ◽  
pp. 54-57
Author(s):  
G.О. Slabkiy ◽  
◽  
М.М. Prokopiv ◽  

Cerebrovascular diseases in the leading countries of the world occupy the second place among all the causes of death and become the main cause of disability of the population in working age. Preventive measures for the development of cerebrovascular disease are directed at eliminating or reducing the impact of risk factors of disease. The objective: to define risk factors for the development of cerebrovascular disease in women under the age of 40 years residing in Kyiv. Materials and methods. 420 women under the age of 40 years residing in Kyiv were questioned with the use of sociological method. A universal adapted questionnaire was used to conduct the research. The results were processed with the application of statistical method and the method of structural-and-logical analysis. Results. It has been defined that up to 32.0% of women have risk factors for developing cerebrovascular diseases of medical nature, up to 69.0% – of hereditary nature, up to 69.0% – of those associated with lifestyle and 32.0% – of socio-economic nature. Among women who did not have a diagnosis of cerebrovascular disease 24.6±2.2% of the polled have hypertensive disease. At the same time, 21.9±2.1% of them do not follow the doctor’s recommendations on healthy lifestyle and 13.8±1.7% of them do not follow the recommendations of the doctor on taking medications. Among women who have been diagnosed with cerebrovascular disease 31.7±2.3% of the polled have hypertensive disease. At the same time, 48.7±2.5% of them do not follow the doctor’s recommendations on healthy lifestyle and 38.5±2.4% do not follow the recommendations of the doctor regarding the intake of medicines. All that leads to high risks of developing a cerebral stroke. Conclusions. A high level of risk factors for cerebrovascular disease was defined among women aged up to 40 years of life residing in Kyiv that requires the introduction of comprehensive information and sanitary preventive programs. Keywords: Kyiv, women, cerebrovascular diseases, risk factors.


2020 ◽  
Vol 12 (1) ◽  
pp. 139-145
Author(s):  
Neha Verma ◽  
Qamar Jawaid

Introduction: Pigment dispersion Syndrome (PDS) is a disorder with an onset in mid–twenties. There occurs a disruption of the iris pigment epithelium and deposition of pigment granules throughout the anterior segment. The incidence of PDS is 4-8/ 100,000. This condition is more commonly seen In Caucasians and is considered to be rare in Indians. Case: A 33-year-old male presented with the complaint of headache for three months. He had normal vision in both eyes with visual acuity of 6/6. Observation: Krukenberg’s spindle, a classic sign of pigment dispersion syndrome was evident on slit-lamp examination over the posterior corneal surface. Gonioscopy revealed a heavy and uniformly pigmented trabecular meshwork. OCT (Optical Coherence Tomography) demonstrated a characteristic iris configuration in the form of a mid-peripheral posterior bowing of the iris .Retinal nerve fibre layer analysis done on OCT revealed glaucomatous thinning in the right eye and a more advanced defect in the left eye. A visual field examination revealed the field to be outside normal limits in both the eyes pointing towards a diagnosis of pigment dispersion glaucoma. Conclusion: The purpose of presenting this case is to caution the clinicians to carefully examine young emmetropes who present with Krukenberg’s spindle as it could be associated with PDS. Patients with Krukenberg’s spindle and without elevated lOP are often treated as normal. These patients must be cautioned regarding possible future consequences of the disease and counseled regarding the hereditary nature of the syndrome.


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