Polycystic Disease Research Articles

Review on Polycystic Ovary Disease (PCOD)

Review on Polycystic Ovary Disease (PCOD)

Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype–phenotype correlations

BackgroundPolycystic renal disease (PRD) is a frequent congenital anomaly of the kidneys, but research utilizing chromosomal microarray analysis (CMA) and exome sequencing (ES) in PRD fetuses remains sparse, with the majority of studies focusing on the multisystem or genitourinary system. ObjectiveThis study aims to describe the detection rate of detectable genetic causes of fetal PRD at different levels, and novel disease-causing variants and explores genotype-phenotype correlations. Study DesignThis study included 220 fetal PRD from January 2014 to June 2022. Cases were divided into three groups: isolated multicystic dysplastic kidneys (MCDK), non-isolated MCDK, and suspected polycystic kidney disease group. We reviewed data on maternal demographics, ultrasonographic results, CMA/ES results, and pregnancy outcomes. ResultsIn our cohort, CMA identified 19 (8.6%) fetuses carrying chromosomal abnormalities, and the most common CNV was 17q12 microdeletion (7/220, 3.2%). Furthermore, 94 families chose to perform trio-ES testing, and 21 fetuses (22.3%) were found to harbor P/LP variants. For PRD, there was a significant difference in the live birth rate (91/130 vs. 46/80 vs. 1/10, p < 0.001). Among 138 live birth cases, 106 (78.5%) underwent postnatal ultrasound review, of which 95 (89.6%) had a consistent prenatal-postnatal ultrasound diagnosis. ConclusionsTaken together, either for isolated or non-isolated PRD, our data show high detection efficiency for both testing tools. Novel pathogenic variants have expanded the disease spectrum of PRD-associated genes while enriching the genotype-phenotype correlation. Therefore, we consider it feasible to perform CMA + ES testing in fetal PRD. Moreover, prenatal-postnatal ultrasound concordance was greater, while the live birth rate was higher and prognosis was better when known genetic disorders were excluded, showing that genetic testing results significantly influenced pregnancy decisions.

The Impact of Obesity on Reproductive Health and Pregnancy Outcomes.

Women carry the majority of the burden of our obesogenic surroundings, with a larger prevalence of obesity than males, a greater impact on fertility and treatment success, and increased maternal and perinatal morbidity and death. Obesity and its associated morbidity are now among our most pressing global health concerns. Women are more susceptible to gaining weight, which has reproductive, coronary, and emotional consequences. The current data on the negative consequences of obesity before conception (fertility issues, assisted reproductive treatment, polycystic ovary disease, overweight and obesity preventative measures, and emotional well-being), pregnancy (preventing excess gestational body weight, gestational diabetes, and preeclampsia, as well as labor and newborn health), and following delivery (the lactation process and breastfeeding, postnatal weight retention, and depressive symptoms) health is summarized. in this review. Along with this, underlying factors, consequences, and solutions to the obesity pandemic are investigated, as well as the mechanisms of obesity's effect on women and men, the epigenetic consequences of masculine obesity, its significant effects on reproductive results, and the implications of the loss of weight preceding to pregnancy as well as during pregnancy. This review suggests study methodologies that might assist in guiding attempts to enhance reproductive health and neonatal health in obese or overweight women.

Features of nephrectomy hemodialysis dependent patients. Experience of the regional center

Background. A feature of the postoperative period of patients with end-stage chronic kidney disease (ESKD) after nephrectomy is the need to continue hemodialysis sessions, taking into account the high risk of developing hemorrhagic complications. A significant place in the literature devoted to organ removal surgery is devoted to a discussion of the video endoscopic method, which, as medicine develops, is constantly being improved, modified and noted as one of the promising areas. Open surgical interventions are accompanied by a more severe course. In this connection, the issue of choosing the timing and method of surgical intervention for this group of patients remains relevant.&#x0D; Aim. To evaluate the results of nephrectomy of hemodialysis patients for the period from 2013 to 2023, performed at the Krasnoyarsk Regional Clinical Hospital.&#x0D; Materials and methods. An analysis of 68 cases of nephrectomy was carried out to evaluate the effectiveness of the protocol adopted in the clinic for the management of nephrectomy in hemodialysis patients. The group included 31 (44.6%) men and 37 (55.4%) women. Nephrectomy through the lumbotomy approach was performed in 31 (45.6%) patients, laparoscopic unilateral nephrectomy – in 23 (33.8%) patients, and bilateral laparoscopic nephrectomy – in 14 (20.6%) patients.&#x0D; Results. Patients with ESKD who underwent nephrectomy were divided into 3 groups – emergency, elective open and laparoscopic nephrectomy. The end-stage of chronic kidney disease and the need for hemodialysis sessions are aggravating factors in the peri- and postoperative treatment of patients with a higher risk of developing complications, in order to minimize which the clinic has adopted a specialized protocol for the management of this category of patients, consisting of preoperative preparation, intraoperative and postoperative stages, applied in 89.7% of cases. Open surgical interventions were performed in 31 patients. Laparoscopic bilateral nephrectomy was performed in 14 patients and was carried out exclusively as planned. Laparoscopic monolateral nephrectomy was performed in 23 patients. Indications for surgical intervention in most patients were the presence of a complicated infection against the background of impaired urodynamics of the upper urinary tract, planned kidney transplantation in patients with polycystic disease, diagnosed malignant tumors of the kidney and ureters. The analysis indicates a greater number of hemorrhagic complications during open interventions. The introduction of endovideosurgical nephrectomy and patient management according to a specialized protocol leads to a significant reduction in the incidence of postoperative complications.&#x0D; Conclusion. Surgical minimally invasiveness and the use of a specialized protocol for the management of hemodialysis-dependent patients makes it possible to reasonably expand the indications for planned interventions, reducing the peri- and postoperative risks of a complicated course.

Polycystic Ovary Syndrome

ABSTRACT Polycystic ovary syndrome (PCOS) is a most common but complex, multifunctional, endocrine complaint that occurs substantially in women of reproductive age. It is characterized by irregularity or the absence of ovulation and elevated situations of androgen (hyperandrogenism) and insulin (hyperinsulinemia). It is a chronic condition that can lead to numerous successive and severe conditions such as uterine (endometrial) or ovarian carcinoma, diabetes mellitus, and cardiovascular diseases. The signs and symptoms of polycystic ovary disease may include irregular periods, infertility, weight gain, thinning crown hair, patient acne, dark skin patches, skin markers, pelvic pain, depression, and anxiety. Remaining benighted on PCOS and its management impacts the prognosis.

Metformin: A New Inhibitor of the Wnt Signaling Pathway in Cancer.

The biguanide drug metformin is widely used in type 2 diabetes mellitus therapy, due to its ability to decrease serum glucose levels, mainly by reducing hepatic gluconeogenesis and glycogenolysis. A considerable number of studies have shown that metformin, besides its antidiabetic action, can improve other disease states, such as polycystic ovary disease, acute kidney injury, neurological disorders, cognitive impairment and renal damage. In addition, metformin is well known to suppress the growth and progression of different types of cancer cells both in vitro and in vivo. Accordingly, several epidemiological studies suggest that metformin is capable of lowering cancer risk and reducing the rate of cancer deaths among diabetic patients. The antitumoral effects of metformin have been proposed to be mainly mediated by the activation of the AMP-activated protein kinase (AMPK). However, a number of signaling pathways, both dependent and independent of AMPK activation, have been reported to be involved in metformin antitumoral action. Among these, the Wingless and Int signaling pathway have recently been included. Here, we will focus our attention on the main molecular mechanisms involved.

Renal Failure, Types, Causes and Etiology: A Review Article

Renal failure is the most important disease that causes losing in the efficiency of kidney and is renal failure or may called end stage kidney disease where capacity for kidney become 15% less than the normal levels .This disease can be classified into two types : first (acute kidney failure ) which may resolve and it rapidly developed .Second (chronic kidney failure) : it slowly developed and may become a permanent condition Symptoms of Renal failure include vomiting; swelling in the legs; a loss of appetite; confusion and tiredness. Several complications occurred which include high blood potassium ; volume overload and uremia in acute condition while high blood pressure; anemia and heart disease in the chronic condition. There are several factors that may lead to the progress of acute renal failure conditions such as hypotension, a blockage of the urinary tract, hemolytic uremic syndrome and some medications.While diabetes ,hypertension, polycystic renal disease and nephrotic syndrome represent the major causes of chronic renal failure . Signs that help in identification of acute and chronic renal failure based on mishmash of several factors and help in distinguish between its types such as increasing of creatinine levels and decreasing of urine production are the signs of acute failure while decrease the rate of glomerular filtration to below of 15 or therapy with renal replacement are the signs of chronic renal failure. Acute failure can be treated depending on the main causes , on the other hand may use dialysis (hemodialysis or peritoneal dialysis) or kidney transplant in order treating chronic failure.

Fetal renal cystic disease and post-natal follow up-a single center experience.

Prenatal sonographic evidence of large, echogenic, or cystic kidneys may indicate any one of a diverse set of disorders including renal ciliopathies, congenital anomalies of the kidney and urinary tract (CAKUT), or multisystem syndromic disorders. Systematic transition planning for these infants from in utero detection to post-natal nephrology management remains to be established. We sought to evaluate the presentation and transition planning for infants identified in utero with bilateral renal cystic disease. Our retrospective observational study identified 72 pregnancies with bilateral renal cystic disease in a single center from 2012 to 2022; 13 of which had a confirmed renal ciliopathy disorder. Clinical and imaging data, genetic test results, and documentation of postnatal follow-up were collected and compared. In our suspected renal ciliopathy cohort (n = 17), autosomal recessive polycystic disease (ARPKD) was the most common diagnosis (n = 4), followed by Bardet-Biedl syndrome (BBS, n = 3), autosomal dominant polycystic disease (ADPKD, n = 2), HNF1B-related disease (n = 2), and Meckel-Gruber syndrome (MKS, n = 2). Four cases were not genetically resolved. Anhydramnios was observed primarily in fetuses with ARPKD (n = 3). Polydactyly (n = 3) was detected only in patients with BBS and MKS, cardiac defects (n = 6) were identified in fetuses with ARPKD (n = 3), MKS (n = 2), and BBS (n = 1), and abnormalities of the CNS (n = 5) were observed in patients with ARPKD (n = 1), MKS (n = 2), and BBS (n = 3). In general, documentation of transition planning was incomplete, with post-natal nephrology management plans established primarily for infants with renal ciliopathies (n = 11/13; 85%). Prenatal sonographic detection of echogenic kidneys should raise suspicion for a broad range of disorders, including renal ciliopathies and CAKUT. Multicenter collaboration will be required to standardize the implementation of transition guidelines for comprehensive nephrology management of infants identified in utero with enlarged, echogenic kidneys.

In praise of pioglitazone: An economically efficacious therapy for type 2 diabetes and other manifestations of the metabolic syndrome.

Pioglitazone improves glycaemic control, not only by lowering insulin resistance, but also by improving beta cell function. Because of the improved beta cell function the glycaemic control that occurs with pioglitazone is prolonged. Pioglitazone has positive effects not only on cardiac risk factors and surrogate measures of cardiovascular disease, it also lowers the incidence of cardiac events in patients with diabetes. The recurrence of transient ischaemic attack and ischaemic stroke is also reduced in non-diabetic, insulin-resistant subjects. Utilized at preclinical stages (but not later) of heart failure, pioglitazone improves diastolic function and avoids progression to heart failure. Pioglitazone, through suppression of atrial remodelling, also decreases the incidence of atrial fibrillation. The manifestations of diseases associated with insulin resistance (non-alcoholic steatohepatitis and polycystic ovary disease) are also improved with pioglitazone. Pioglitazone may possibly improve psoriasis and other dermopathies. Pioglitazone is therefore an inexpensive and efficacious drug for the insulin-resistant subject with diabetes that is underutilized because of biases that have evolved from the toxicities of other thiazolidinediones.

Unleashing the Benefits of Artificial Intelligence in the Management of PCOS and PCOD: A Paradigm Shift in Women’s Health

This research paper aims to investigate the potential benefits and transformative impact of technology, specifically artificial intelligence (AI), in the management of Polycystic Ovary Syndrome (PCOS) and Polycystic Ovary Disease (PCOD). The study explores how technological advancements, including AI algorithms, machine learning, wearable devices, and mobile applications, can revolutionize the diagnosis, monitoring, and personalized treatment of these complex endocrine disorders. By leveraging large datasets encompassing medical records, hormonal profiles, lifestyle factors, and patient-reported outcomes, this research aims to uncover novel insights, enhance early detection, optimize treatment strategies, and empower women in managing their condition. The ethical considerations and challenges associated with the integration of technology and AI in PCOS/PCOD management are also examined. The findings of this research paper provide valuable insights into the potential benefits and ethical implications of technology-enabled approaches, paving the way for improved healthcare practices and outcomes in PCOS/PCOD management.

A clinical study of puberty menorrhagia in the modern era at a tertiary health-care center

ABSTRACT Background: Puberty Menorrhagia is the most common gynecological complication. Puberty menorrhagia when accompanied by serious systemic complications such as anemia and high blood protein (i.e., hypoproteinemia) poses substantial difficulties among gynecologists. The foundation of managing puberty menorrhagia is its early diagnosis and individualized treatment customized to each and every patient. The exclusion of pregnancy is mandatory in all cases, regardless of the history, and following up regularly along with a balanced diet and iron therapy goes a long way towards successful treatment. Objectives: To evaluate the etiology, clinical presentation, and therapeutic efficacy in patients suffering from puberty menorrhagia in our program. Materials and Methods: The prospective observation study method was opted for this study. Study participants were forty women who presented to JMF’s ACPM Medical College, Dhule between November 1, 2019 and October 31, 2020 with excessive vaginal bleeding between the onset of menarche and 19 years of age. All cases were evaluated using history, physical assessment, and pertinent laboratory investigations. Results: In our study, half of the patients (50%) were between the age group of 13 and 16 years. Nine out of every ten patients had hemoglobin levels of 10 g% or less, and 55% of patients were suffering from puberty menorrhagia for 6 months to a year. Our study suggests that polycystic ovary disease (25%) and anovulatory dysfunctional uterine bleeding (DUB) (47.5%) were the basic etiological factors, resulting in the puberty menorrhagia. Genitourinary tuberculosis (7.5%), idiopathic thrombocytopenic purpura (5%), ectocervical polyps (5%), hypothyroidism (7.5%), and Von Willebrand’s disease (2.5%) were found to be a common cause of excessive bleeding. The fundamental medical therapy for managing puberty menorrhagia comprises nonsteroidal anti-inflammatory drugs, tranexamic acids, and hormones. Conclusion: Menorrhagia during puberty is a distressing ailment for both the sufferer and her parents. The majority of instances are caused by self-limiting anovulatory DUB. For effective diagnosis and therapy, a thorough history, clinical examination, and investigation are required. Patient counseling is an integral aspect of management. Surgical approaches are preferred in a few cases, while long-term medical assistance is largely effective.

Principles of effective use of non-steroidal anti-inflammatory drugs

The article provides an overview of references on the rational use of nonsteroidal anti-inflammatory drugs (NSAIDs) in modern medicine. Nonsteroidal anti-inflammatory drugs are a group of drugs with different chemical structures (mostly acid derivatives) that have anti-inflammatory, analgesic, antipyretic, antiplatelet (acetylsalicylic acid, acetylsalicylate, ketoprofen, diclofenac sodium, niflumic acid, indomethacin) effects. NSAIDs are divided according to the selectivity of action relative to cyclooxygenase (COX) isoforms: non-selective COX inhibitors, selective COX-1 inhibitors, approximately equal inhibition of COX-1 and COX-2, selective COX-2 inhibitors. They are characterized by general pharmacological properties: high degree of absorption in the gastrointestinal tract; a high degree of binding to albumins; approximately the same volume of distribution; the ability to accumulate in the focus of inflammation. Indications for NSAIDs use are: acute arthritis and chronic arthritis; acute and chronic pain syndrome of various nature (lower back pain syndrome, joint and soft tissue injuries, migraine, dysmenorrhea, preoperative and postoperative pain, renal colic, fever in various rheumatic and non-rheumatic diseases). Аdditional indications for prescribing NSAIDs are: pleurisy, pericarditis, erythema nodosum, polycystic lung disease, sciatica. The most frequent and dangerous side effects include gastrointestinal, kidney complications. Special attention is paid to the cardiovascular safety of NSAIDs and, above all, COX-2 inhibitors because of risk of cardiovascular events. The most effective drug with the best tolerability should be selected for a specific patient. Before starting NSAID therapy, the patient's age, comorbidities, previous medical or surgical history, concomitant use of medications (including antiplatelet agents, anticoagulants, corticosteroids, ACE inhibitors, and selective serotonin reuptake inhibitors), H. pylori infection, and blood pressure monitoring should be considered. Keywords: inflammation, pain, side effects, gastropathy, selectivity.

Phenotypic signs of connective tissue dysplasia in adolescents

Introduction. Connective tissue dysplasia (СTD) is a group of polymorphic pathological conditions caused by hereditary or congenital defects in collagen synthesis and accompanied by a violation of the functions of the musculoskeletal system and internal organs, which is considered as a factor in the development of pathology of the maxillofacial region in children: dystrophic forms of periodontal diseases; anomalies of shape, size, teething; pathology of the temporomandibularthe mandibular joint. There are diffi culties in determining the pathogenetic relationship between CTD and individual nosological forms of dental diseases, which is important for determining the prognosis of their course and the choice of methods of rehabilitation of children. It is important to improve the methodology of preventive examinations in relation to the early detection of phenotypic signs of CTD, including in the maxillofacial region. Substantiation of the connection of CTD with dental diseases will make it possible to develop examination and medical examination schemes, increase the effectiveness of comprehensive prevention of dental diseases and rehabilitation of adolescents with combined pathology.The aim is to study the incidence of CTD in adolescents and its relationship with dental diseases in order to develop a scheme of examinations and medical examinations, increase the effectiveness of comprehensive prevention of dental diseases and rehabilitation of adolescents with combined pathology.Materials and methods. A survey of 140 male adolescents aged 15–18 years, students of schools in Smolensk was conducted. When examining the somatic status, generally accepted markers of CTD were taken into account: bone (asthenic type of constitution, scoliotic deformity of the spine, hallux valgus, chest deformities), skin (increased skin extensibility of more than 3 cm), articular (hypermobility of joints) and visceral (changes from the cardiovascular system — prolapses of the heart valves, abnormally located chords; changes from the respiratory organs — polycystic lung disease, trachiobronchial dyskinesia; changes from the urinary system — nephroptosis, kidney doubling; changes from the gastrointestinal tract — visceroptosis, gallbladder anomaly; changes from the blood system — thrombocytopathy, hemoglobinopathy). When examining the dental status, the following generally accepted markers of CTD were taken into account: malocclusion (prognathia, deep bite, their combination), narrowing of the dentition, anomalies of the position of individual teeth, anomalies of soft tissue attachment, gum recession, chronic gingivitis. The diagnosis of CTD and the health group was established by a pediatrician on the basis of clinical recommendations and the order of the Ministry of Health of the Russian Federation № 621 dated 30.12.2003 «On a comprehensive assessment of the health status of children». Factor analysis was used to form a set of signs combining signs of CTD and dental diseases.Results. Of the phenotypic signs of СTD, bone and joint changes were diagnosed in 79,3 % (95 % CI 72,6– 86) of adolescents. In second place in frequency 35 % (95 % CI 27,1–42,9) were signs of СTD of the cardiovascular system and the organ of vision (myopia). 40 % (95 % CI 31,9–48,1) of the examined adolescents were diagnosed with chronic gingivitis, gum recession. Deep bite and prognathia were more common than other malocclusions: in 40,7 % (95 % CI 32,6–48,9) and 17,1 % (95 % CI 10,9–23,4), respectively. The use of factor analysis allowed us to identify four most informative factors (the fi rst of them is the most signifi cant) to characterize the relationship between the signs of CTD and its dental manifestations.Conclusion. The incidence of CTD in males in the age group of 15–18 years is 43 %. The most informative prognostic factor was the relationship of tracheobronchial dyskinesia with prognathia, deep bite, narrowing of the jaws, generalized gingivitis. The interrelation of signs of СTD of the cardiovascular system and bone-joint changes with gum recession, chronic gingivitis, prognathia and deep bite was also revealed.

#4051 FGF-23 IN CHRONIC KIDNEY DISEASE: CORRELATION WITH BONE AND CARDIOVASCULAR PARAMETERS – A PRELIMINARY STUDY

Abstract Background and Aims The FGF-23/Klotho ratio increases from early stages of chronic kidney disease (CKD) in parallel with kidney function declined. In some cases, serum FGF-23 levels increase is unbalanced, causing organ damage and increasing cardiovascular risk. The aim of our study was to evaluate the intact FGF-23 (iFGF-23) levels in a cohort of CKD patients and to establish its correlation with cardiovascular and bone mineral metabolism parameters. Method A prospective observational study in 59 adult normophosphatemic patients with CKD stage 2-4, was performed. Clinical and analytical variables (serum calcium, phosporus, intact parathyroid hormone (iPTH), iFGF-23, calcidiol and calcitriol) were evaluated. Basal transthoracic echocardiogram, bone densitometry (Lunar prodigy, GE iDXA), software trabecular bone score (TBS), iNsight clinical data analyzer and carotid Doppler ultrasound were performed. We excluded patients with background of primary hyperparathyroidism, hepatorenal polycystic disease, kidney transplant, tumoral nephrectomy, active neoplasm, tubulopathies or treatment with active vitamin D or calcimimetics. For statistical analysis, we use SPSS software (T Student, Xi2, Fisher test, ANOVA test, U-Mann Whitney test and correlations of Pearson and Spearman) Results Mean age was 62,7±10,5 years, 82,5% were men; 17,7% have CKD stage 2, 28,8% stage 3a, 42,3% stage 3b and 9,6% stage 4. The main CKD etiology was vascular (25%) and diabetes (22%). Previous cardiovascular disease was observed in 11% (ischemic heart disease 6,3%, cerebrovascular disease 3,2% and descompensated heart failure with hospitalization 1,6%). Mean iFGF-23 levels in CKD stage 2 were 80,4±38 ng/l (38-170, median 71 ng/l), in CKD stage 3a 95,5±39,7 ng/l (46-178,9 ng/l, median 85,5 ng/l), in CKD stage 3b 118,8±55,06 (35,5-285 ng/l, median 124,6 ng/l) and in stage 4 134,8±50,9 ng/l (65,25-216,5 ng/l, median 136,1 ng/l). We found correlation between iFGF-23 levels and glomerular filtration rate (Rho:-0,390, p: 0,003), as well as with CKD stages (ANOVA test, p: 0,057). We performed 48 carotid doppler ultrasound and observed mild carotid atheromatosis in 58,7%, mainly bilateral, and intima-media thickness &amp;gt;0,9 mm in 7,9%. In patients with atheromatosis, 38,9% showed iFGF-23 levels in second tertil and 36% in the third. We observed left ventricular hypertrophy (LVH) in 46% of patients, mostly mild degree. In bone densitometry, we found mean femoral neck T-Score of -1±1,1 and lumbar spine T-Score of -0,07±1,5, mean mineral bone density (DMO) in femoral neck of 0,89±0,25 g/cm2 and 1,17±0,20 g/cm2 in lumbar spine. Only 40% of patients had normal TBS score. We found correlation between serum iFGF-23 levels and phosphorus tubular reabsorption (r:-0,396, p: 0,002), calcidiol (Rho: 0,264, p:0,047), calcitriol (r: -0,412, p:0,002), iPTH (Rho: 0,296, p:0,025), lumbar T-Score (r: -0,320 p:0,022), lumbar DMO (r:-0,267, p:0,049) and TBS (r: -0,396, p:0,005). Conclusion We confirm an association between a glomerular filtration rate decline and an increase in serum iFGF-23 levels. The inverse correlation observed between iFGF-23 serum levels and lumbar T-Score, lumbar DMO and trabecular microarchitecture suggests a negative effect of iFGF-23 in bone mineralization.

#3639 WHEN WHOLE EXOME SEQUENCING IS NOT GOOD ENOUGH: BACK TO THE ROOTS OR FORWARD TO THE FUTURE

Abstract Background and Aims Over the last few years, massively parallel sequencing (MPS) has been established in genetic diagnostics, where large virtual panels of candidate genes can be screened on a whole exome basis. This has enabled large analyses for most medical indications, including renal genetic diseases. The 25 year old, index female patient was referred for disease clarification. Both non-related parents suffered from end-stage renal disease, with kidney failure in mid adulthood and familiar cystic disease in both the maternal and paternal lines. An external genetic analysis applying MPS on a restricted panel of genes retrieved no conclusive result, apart from two variants in the UMOD gene, classified as class 3 and 4 following ACMG criteria. Method Whole exome sequencing (WES), linkage analysis, haplotype reconstruction, whole genome sequencing (WGS), long-range PCR (LR-PCR). Results The detailed pedigree of the family displayed an autosomal dominant disease with several family members reaching end-stage kidney disease on both the maternal and paternal sides. The maternal family is characterized by polycystic disease of the kidney and most profoundly the liver, with two female members already liver transplanted and one on the waiting list. The paternal family shows more unspecific chronic kidney disease (CKD) with multiple cysts in the kidney, but not in the liver. Two male members reported gout attacks, before the knowledge of CKD. We consented 12 family members for research studies and collected blood for DNA. Contemporary MPS of a virtual panel for cystic diseases (&amp;gt; 60 genes, i.e. PKD1 and PKD2, all known genes for cystic liver disease) in the index patient did not yield a conclusive result, apart from the previously reported UMOD variants [c.464G&amp;gt;A, p.(Cys155Tyr) and c.907G&amp;gt;C, p.(Asp303His)]. These variants both segregated in the paternal family, defining them as lying in cis on one allele. WES was performed on a trio of three affected family members of the maternal family, yielding no further result. Linkage analysis showed 9 peaks with a LOD score above 2.0. One peak is situated on chromosome 16, containing the candidate genes PKD1 and IFT140. WGS revealed the heterozygous variant c.2180T&amp;gt;C, p.(Leu727Pro) in exon 11 of PKD1, which has been reported as causative numerous times in the past. Conventional LR-PCR, which is designed to acknowledge the highly homologous regions of the 6 pseudogenes of PKD1, also retrieved the PKD1 variant, which was not called by MPS. Comparing the sequence reads of the WES with the WGS, the PKD1 variant was detected in 12% in the former, whereas complete detection was achieved in the latter. Since the cutoff for calling variants in WES was set to 20%, the PKD1 variant was not visible to the genetic analyst. The index patient indeed inherited both diseases from her parents, giving her the simultaneous diagnoses of ADPKD and ADTKD(-UMOD). Conclusion ADPKD is one of the most frequent genetic diseases of the human, with PKD1 being involved in &amp;gt; 80% of cases. With the apparent ease of modern technology, increasingly ADPKD families are presented for genetic consultation, also to non-specialized centers. It is tempting to use MPS considering the number of candidate genes and the size of PKD1 (46 exons). However, a negative result should be supported either by LR-PCR or WGS, taking the profound difficulties with the 6 pseudogenes of PKD1 into consideration. It is not known whether the predominance of liver disease in this family with the PKD1 c.2180T&amp;gt;C variant implicates a genotype-phenotype correlation, or whether other (genetic) modifiers may press for a liver phenotype. The renal prognosis of the index case is feared to be worse baring both diseases, even with the pathogeneses being different with a ciliopathy (ADPKD) and a toxic proteinopathy (ADTKD-UMOD), respectively. Since both affected genes are situated on the respective chromosomes 16, the patient bares a 100% risk of receiving children with an adult onset kidney disease, where pre-implantation technology will not solve this specific problem.

#4209 A COMPARATIVE RETROSPECTIVE STUDY OF PATIENTS WITH ADPKD: FIRST RESULTS RELATING TO THE USE OF TOLVAPTAN

Abstract Background and Aims Autosomal Dominant Polycystic Disease (APKD) is the fourth leading cause of End Stage Renal Failure (ESRD). Since 2015, the administration of Tolvaptan has been approved in patients with APKD at high risk of progression to ESRD (Mayo classification system, classes 1C-D). Method In this study we compare the characteristics of APKD patients who received Tolvaptan (45/15 mg) in relation to those who did not receive but followed the periodic check-up. These are 33 people with an average age of 44.17± 13.6 years. Tolvaptan was administered to 9 (27.3%) patients who met the Mayo classification criteria for its administration. The mean follow-up time for all the patients was 11.41±7.4 months and for those taking tolvaptan it was 10.6±3.9 months. Values ​​of urea, creatinine, plasma sodium, specific gravity and urine osmolarity were determined at the start of follow-up and compared with those at the last visit. Results A significant reduction was observed in the values ​​of urea, osmolality and specific gravity of urine after one year of tolvaptan use compared to the group that did not receive the treatment and thus no titration of the drug dose was needed. In the same group, marginally higher values ​​of the plasma sodium were observed, but within normal limits. The indicators of renal function in both groups did not show any change. Conclusion At one year of follow-up, APKD patients who received Tolvaptan did not exhibit worsening of the kidney function. We observed changes in the values of urea, urine specific gravity and urine osmolarity associated with our instructions to drink more water, showing good compliance with the treatment.

A Study to Assess the Effectiveness of Structured Teaching Program on Knowledge regarding Polycystic Ovarian Disease among College girls at Sree Vidyanikethan Engineering College, A. Rangampet, Tirupati, Andhra Pradesh

Polycystic ovarian disease is a hormonal disorder that manifests multiple cysts in ovaries. Girls suffer from many problems such as irregular periods, hair loss, insomnia, weight gain, excessive pimples, rise in insulin levels and infertility. There is a dire need to overcome this unsatisfied life event. Gynecological problems of college girls occupy a special space in the spectrum of gynecological disorders of all the ages. The problems are so unique, special, and specific for the age group, and the associated physical and psychological factors are very important in the growth and psychological remodelling of someone in the transition between childhood and womanhood. Objectives: 1. To assess the level of knowledge regarding polycystic ovarian disease among college girls. 2. To evaluate the effectiveness of structured teaching programme regarding polycystic Ovarian diseases among college girls. 3. To associate the post-test level of knowledge with selected demographic variables. Methodology: A Quasi-experimental design with evaluative approach was adopted and the study was conducted among 70 Engineering college girls in Sree Vidyanikethan Engineering College, A. Rangampeta, Tirupathi. The students were selected by using simple random sampling technique in experimental group. Pre-test was done for assessing the knowledge on polycystic ovarian disease and then structured teaching program was done. After one week post-test was conducted by using the same questionnaires for evaluating the effectiveness of structured teaching program. Results: In the experimental group, the pre-test mean score was 1.80 with SD of 0.403 and in post-test the mean score was 2.53 with SD of 0.503 the calculated ‘t’ value is 13.850 which was statically significant at 0.01 level.

THU-485 - Polycystic disease: a cumbersome benign indication for transplantation

THU-485 - Polycystic disease: a cumbersome benign indication for transplantation

Ультрасонографическая оценка почек у кошек с хроническими нефропатиями

Abstract. The purpose of the study was to establish an ultrasonographic picture of the upper urinary system in cats with chronic kidney disease at different stages and their prognostic significance. Research methods. The study involved 40 cats of different sex, age and breed with an established diagnosis of chronic kidney disease from stage 1 to stage 4, 10 animals in each group. The staging of the stage was based on the concentration of the serum creatinine level. All animals underwent ultrasonographic examination of the urinary system on the ChisonQBit 11 apparatus with a high-frequency linear sensor in longitudinal and cross sections. The nature of structural changes in the kidneys as a result of ultrasonographic examination were correlated with the stage of the disease. Scientific novelty. Chronic kidney disease is one of the most common pathologies in cats older than 7 years. The disease is progressive, which proves the need for early detection and preparation of therapeutic and diagnostic measures to prolong and improve the life of the animal. Ultrasound diagnostics is included in the diagnostic plan, which allows to identify animals with structural changes in the kidneys, but is not decisive in the diagnosis and stage of chronic kidney disease in cats. Results. In cats at stage 1 of chronic kidney disease, ultrasound changes in the structure of the kidneys were absent in 60 % of cases, ultrasound signs of polycystic and hyperechogenic medullary rim (ring) were detected in 10 % of cases. In cats at stage 2, ultrasound changes of the kidneys were absent in 30 % of cases, signs of nephrolithiasis (concretions in the projection of the pelvis without signs of obstruction) were found in 20 % of cases, and signs of nephrosclerosis/hypoplasia unilaterally were found in 10 % of cases. At stage 3, diffuse kidney changes were detected in 100 % of cases, signs of nephrosclerosis/hypoplasia in 40 % of cases, nephrolithiasis in 20 %, polycystic disease in 10 % of cases. At stage 4, diffuse changes were present in 100 %, signs of nephrosclerosis/hypoplasia in 30 %, and nephrolithiasis in 10 % of cases. Thus, there are no specific signs that allow us to establish the stage of chronic kidney disease in cats according to the results of ultrasonographic examination.

Statement of Retraction: Evaluation of tumor necrosis factor alpha serum level in obese and lean women with clomiphene citrate-resistant polycystic ovary disease

This article refers to:RETRACTED ARTICLE: Evaluation of tumor necrosis factor alpha serum level in obese and lean women with clomiphene citrate-resistant polycystic ovary disease