Search results for: autosomal dominant polycystic kidney (ADPKD)

Authors: Fouad Chebib, Marie Hogan, Ziad El-Zoghby, Maria Irazabal, Sarah Senum, Christina Heyer, Charles Madsen, Emilie Cornec-Le Gall, Atta Behfar, Barbara Ehrlich, Peter Harris, Vicente Torres

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Background: Mutations in PKD1 and PKD2, the genes encoding the proteins polycystin-1 (PC1) and polycystin-2 (PC2) cause autosomal dominant polycystic kidney disease (ADPKD). ADPKD is a systemic disease associated with several extrarenal manifestations. Animal models have suggested an important role for the polycystins in cardiovascular function. The aim of the current study is to evaluate the association of various cardiomyopathies in a large cohort of patients with ADPKD. Methods: Clinical data was retrieved from medical records for all patients with ADPKD and cardiomyopathies (n=159). Genetic analysis was performed on available DNA by direct sequencing. Results: Among the 58 patients included in this case series, 39 patients had idiopathic dilated cardiomyopathy (IDCM), 17 had hypertrophic obstructive cardiomyopathy (HOCM), and 2 had left ventricular noncompaction (LVNC). The mean age at cardiomyopathy diagnosis was 53.3, 59.9 and 53.5 years in IDCM, HOCM and LVNC patients respectively. The median left ventricular ejection fraction at initial diagnosis of IDCM was 25%. Average basal septal thickness was 19.9 mm in patients with HOCM. Genetic data was available in 19, 8 and 2 cases of IDCM, HOCM, and LVNC respectively. PKD1 mutations were detected in 47.4%, 62.5% and 100% of IDCM, HOCM and LVNC cases. PKD2 mutations were detected only in IDCM cases and were overrepresented (36.8%) relative to the expected frequency in ADPKD (~15%). The prevalence of IDCM, HOCM, and LVNC in our ADPKD clinical cohort was 1:17, 1:39 and 1:333 respectively. When compared to the general population, IDCM and HOCM was approximately 10-fold more prevalent in patients with ADPKD. Conclusions: In summary, we suggest that PKD1 or PKD2 mutations may predispose to idiopathic dilated or hypertrophic cardiomyopathy. There is a trend for patients with PKD2 mutations to develop the former and for patients with PKD1 mutations to develop the latter. Predisposition to various cardiomyopathies may be another extrarenal manifestation of ADPKD.

Keywords: autosomal dominant polycystic kidney (ADPKD), polycystic kidney disease, cardiovascular, cardiomyopathy, idiopathic dilated cardiomyopathy, hypertrophic cardiomyopathy, left ventricular noncompaction

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Authors: G. Anjan Babu, G. Sumana, M. Rajasekhar

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Many inherited diseases and non-hereditary disorders are common in the development of renal cystic diseases. Polycystic kidney disease (PKD) is a disorder developed within the kidneys in which grouping of cysts filled with water like fluid. PKD is responsible for 5-10% of end-stage renal failure treated by dialysis or transplantation. New experimental models, application of molecular biology techniques have provided new insights into the pathogenesis of PKD. Researchers are showing keen interest for developing an automated system by applying computer aided techniques for the diagnosis of diseases. In this paper a multi-layered feed forward neural network with one hidden layer is constructed, trained and tested by applying back propagation learning rule for the diagnosis of PKD based on physical symptoms and test results of urinanalysis collected from the individual patients. The data collected from 50 patients are used to train and test the network. Among these samples, 75% of the data used for training and remaining 25% of the data are used for testing purpose. Furthermore, this trained network is used to implement for new samples. The output results in normality and abnormality of the patient.

Keywords: dialysis, hereditary, transplantation, polycystic, pathogenesis

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Authors: Nashi Khan, Amina Khalid

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Aim: The purpose of this research was to find the psychiatric morbidity and level of sexual satisfaction among women with polycystic ovarian syndrome and their comparison with women with general medical conditions and to examine the correlation between psychiatric morbidity and sexual satisfaction among these women. Design: Cross sectional research design was used. Method: A total of 176 (M age = 30, SD = 5.83) women were recruited from both private and public sector hospitals in Pakistan. About 88 (50%) of the participants were diagnosed with polycystic ovarian syndrome (cases), whereas other 50% belonged to control group. Data were collected using semi structured interview. Sexual satisfaction scale for women (SSS-W) was administered to measure sexual satisfaction level and psychiatric morbidity was assessed by Symptom Checklist-Revised. Results: Results showed that participant’s depression and anxiety level had significant negative correlation with their sexual satisfaction level, whereas, anxiety and depression shared a significant positive correlation. There was a significant difference in the scores for sexual satisfaction, depression and anxiety for both cases and controls. These results suggested that women suffering from polycystic ovarian syndrome tend to be less sexually satisfied and experienced relatively more symptoms of depression and anxiety as compared to controls.

Keywords: level of sexual satisfaction, psychiatric morbidity, polycystic ovarian syndrome

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Authors: Mohamed Radwan

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Introduction: Polycystic ovary syndrome is becoming very common among girls from ages 14 to 21 years old, alongside women in their childbearing period. A combination of menstrual irregularities, overweight or obesity, insulin resistance (type 2 diabetes), and symptoms of virilization are characteristics of these cases. Background: A multidisciplinary team should be involved in managing these cases and may consist of A gynecologist, endocrinologist, nutritionist, and psychologist. The role of nutritionists is crucial in these cases in weight reduction and nutritional management. It is mandatory to present some questions that may help in expanding further our understanding of the nutritional management of this syndrome, such as it is not an easy process to reduce the weight of PCO patients (2) we need to know what suitable nutritional plans for these cases are. Methodology: It is not successful to use one diet plan for all patients or a specific plan, but we need to give tailored plans for each patient. We will summarize the medical, nutritional therapy and weight management in polycystic ovary patients and highlight the best eating plan and dietary composition in the treatment of these women. We will also discuss the role of dieticians in treating polycystic ovary cases and overcoming the challenges these women face. Conclusion: All diet plans would decrease the weight of Polycystic ovary cases as low calory diet, low glycemic index diet, high protein diet, as well as Dash diet, but the most suitable diet plan to improve hormones and lead to spontaneous pregnancy is the Mediterranean diet.

Keywords: obesity, PCO mediteranian diet, dash diet, high protein diet

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Authors: Faezah Shekh Abdullah, Mohd. Azizuddin Mohd. Yussof, Komathy Thiagarajan, Hasnoorina Husin, Noor Azreena Abd Aziz

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Polycystic ovary syndrome has been associated with multiple disorders such as endocrine disorder, metabolic syndrome, infertility, and endometrial cancer. Women with polycystic ovary syndrome (PCOS) are anticipated to develop three times more chances for endometrial cancer than women without PCOS. This study, therefore, was conducted to determine the association between polycystic ovary syndrome and endometrial cancer and to determine the cervical cytology features of PCOS. Patients attending the Subfertility Clinic of the National Population and Family Development Board were recruited and examined physically by medical practitioners. They were categorized into two groups; i) the PCOS group if they met Rotterdam Criteria 2004 and ii) the control group if they did not meet Rotterdam Criteria 2004. Cervical sampling was done on all patients via the Liquid-Based Cytology (LBC) method in the pre-and post-subfertility treatment. A total of 167 patients participated in the study, of which 79 belonged to the PCOS group and 88 to the control group. The findings showed no cervical and endometrial cancer cases in both groups. The Liquid-Based Cytology results in the PCOS group displayed more cases with cellular changes, i.e., benign inflammation, atrophic smear and Candida sp. infection. To conclude, no association was found between polycystic ovary syndrome and endometrial cancer. A more holistic study with a higher number of participants can further determine the association between endometrial cancer and PCOS. Furthermore, a longer duration between LBC pre- and post-subfertility treatment should be implied to observe changes in the cervical cells.

Keywords: endometrial cancer, liquid-based cytology, PCOS, polycystic ovary syndrome

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Authors: Ratneev Kaur, Tajinder Kaur, Anupam Kaur

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Introduction: Polycystic Ovary Syndrome (PCOS) is a heterogenous disorder of endocrine system among women of reproductive age. PCOS is characterized by hyperandrogenism, anovulation, polycystic ovaries, hirsutism, obesity, and hyperinsulinemia. Several pathways are implicated in its etiology including the metabolic pathway of steroid hormone synthesis regulatory pathways. PCOS is an androgen excess disorder, genes operating in steroidogenesis may alter pathogenesis of PCOS. The cytochrome P450scc is a cholesterol side chain cleavage enzyme coded by CYP11A1 gene and catalyzes conversion of cholesterol to pregnenolone, the initial and rate-limiting step in steroid hormone synthesis. It is postulated that polymorphisms in this gene may play an important role in the regulation of CYP11A1 expression and leading to increased or decreased androgen production. The present study will be the first study from north India to best of our knowledge, to analyse the association of CYP11A1 (rs11632698) polymorphism in women suffering from PCOS. Methodology: The present study was approved by ethical committee of Guru Nanak Dev University in consistent with declaration of Helsinki. A total of 300 samples (150 PCOS cases and 150 controls) were recruited from Hartej hospital, for the present study. Venous blood sample (3ml) was withdrawn from women diagnosed with PCOS by doctor, according to Rotterdam 2003 criteria and from healthy age matched controls only after informed consent and detailed filled proforma. For molecular genetics analysis, blood was stored in EDTA vials. After DNA isolation by organic method, PCR-RFLP approach was used for genotyping and association analysis of rs11632698 polymorphism. Statistical analysis was done to check for significance of selected polymorphism with PCOS. Results: In 150 PCOS cases, the frequency of AA, AG and GG genotype was found to be 48%, 35%, and 13% compared to 62%, 27% and 8% in 150 controls. The major allele (A) and minor allele (G) frequency was 68% and 32% in cases and 78% and 22% in controls. Minor allele frequency was higher in cases as compared to controls, as well as the distribution of genotype was observed to be statistically significant (ᵡ²=6.525, p=0.038). Odds ratio in dominant, co-dominant and recessive models observed was 1.81 (p=0.013), 1.54 (p=0.012) and 1.77 (p=0.132) respectively. Conclusion: The present study showed statistically significant association of rs11632698 with PCOS (p=0.038) in North Indian women.

Keywords: polycystic ovary syndrome, CYP11A1, rs11632698, hyperandrogenism

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Authors: Bajraktarevic Adnan, Djukic Branka, Sporisevic Lutvo, Krdzalic Zecevic Belma, Uzicanin Sajra, Hadzimuratovic Admir, Hadzimuratovic Hadzipasic Emina, Abduzaimovic Alisa, Kustric Amer, Suljevic Ismet, Serafi Ismail, Tahmiscija Indira, Khatib Hakam, Semic Jusufagic Aida, Haas Helmut, Vladicic Aleksandra, Aplenc Richard, Kadic Deovic Aida

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Introduction: Joubert syndrome has an autosomal recessive pattern of inheritance. It is referred as the brain malfunctioning and caused due to the underdevelopment of the cerebellar vermis. Associated conditions involving the eye, the kidney, and ocular disease are well described. Aims: Research helps us better understand this diseases, Joubert syndrome and can lead to advances in diagnosis and treatment. Methods: Different several conditions have been described in which the molar tooth sign and characteristics of Joubert syndrome in ten different places in the world. Carrier testing and diagnosis are available if one of these gene mutations has been identified in an affected family member. Results: Authors have described eleven cases during twenty years of Joubert syndrome. It is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic molar tooth sign, and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. We made confirmation of diagnosis in twin sisters with Joubert syndrome with renal anomalies. Ocular symptoms have existed in seven cases (63.64%) from total eleven. Eleven cases were different sex, five boys (45.45%) and six girls (54.44%). Conclusions: Joubert syndrome is inherited as an autosomal recessive genetic disorder with several features of the disease.

Keywords: Joubert syndrome, cerebellooculorenal syndrome, autosomal recessive genetic disorder (ARGD), children

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Authors: Sihyun Chae, Ryoto Arai, Waldo Concepcion, Paula Popescu

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The kidneys perform an important role in the human hormones that regulate the blood pressure, produce an active form of vitamin D and control the production of red blood cells. Kidney disease can cause health problems, such as heart disease. Also, increase the chance of having a stroke or heart attack. There are mainly to types of treatments for kidney disease, dialysis, and kidney transplant. For a better quality of life, the kidney transplant is desirable. However, kidney transplant can cause antibody reaction and patients’ body would be attacked by immune system of their own. For solving that issue, patients with transplanted kidney always take immunosuppressive drugs which can hurt kidney as side effects. Patients willing to do a kidney transplant have a waiting time of 3.6 years in average searching to find an appropriate kidney, considering there are almost 96,380 patients waiting for kidney transplant. There is a promising method to solve these issues: bioartificial kidney. Our membrane is specially designed with unique perforations capable to filter the blood cells separating the white blood cells from red blood cells. White blood cells will not pass through the encapsulated kidney preventing the immune system to attack the new organ and eliminating the need of a matching donor. It is possible to construct life-time long encapsulation without needing pumps or a power supply on the cell’s separation method preventing futures surgeries due the Cross-Channel Flow inside the device. This technology allows the possibility to use an animal kidney, prevent cancer cells to spread through the body, arm and leg transplants in the future. This project aims to improve the quality of life of patients with kidney disease.

Keywords: kidney encapsulation, immunosuppression filter, leukocyte filter, leukocyte

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Authors: Ahuja Ashish, Nain Prabhdeep Singh

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Introduction: Polycystic ovarian syndrome(PCOS) is the most common endocrine disorder among women of reproductive age.Pcos encompasses a broad spectrum of signs&symptoms of ovary dysfunction,obesity,blood pressure,insulin resistance & infertility. Bariatric Surgery can be an effective means of weight loss in Pcos & curing infertility. Materials and Methods: 15 female patients were enrolled in the study from 2012-2014.66%(n=10) were in age group of 20-25 years,33%(n=5) were in age group of 25-33 years who underwent. Bariatric surgery in form of Laproscopic sleeve Gastrectomy(LSG)& Roux-en-Y gastric bypass. LSG 73%(n=11), RYGB26% (n=4). Results: There was a significant improvement in obesity (60% excess weight loss)over 1 year after bariatric surgery, in 12 patients there was gross improvement in restoration of menstrual cycle who had irregular menstrual cycle. In 80% patients the serum insulin level showed normal value. Over two years 8 patients become pregnant. Conclusions: 1)Obese women with Pcos maybe able to conceive after Bariatric Surgery. 2) Women with Pcos should only consider bariatric surgery if they were already considering it for other reasons to treat obesity, blood pressure & other co-morbid conditions.

Keywords: obesity, bariatric surgery, polycystic ovarian syndrome, infertility

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Authors: R. A. Qawasma, F. M. Haddad, H. O. Salhab

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Hemodialysis is a life-preserving treatment for a number of patients with kidney failure. The standard procedure of hemodialysis is three times a week during the hemodialysis procedure, the patient usually suffering from many inconvenient, exhausting feeling and effect on the heart and cardiovascular system are the most common signs. This paper provides a solution to reduce the previous problems by designing a wearable artificial kidney (WAK) taking in consideration a minimization the size of the dialysis machine. The WAK system consists of two circuits: blood circuit and dialysate circuit. The blood from the patient is filtered in the dialyzer before returning back to the patient. Several parameters using an advanced microcontroller and array of sensors. WAK equipped with visible and audible alarm system to aware the patients if there is any problem.

Keywords: artificial kidney, home dialysis, renal failure, wearable kidney

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Authors: Mohamed Gomaa Mohamed

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Background and purpose: Ideal posture involves a minimal amount of stress or strain on various body segments which are aligned and worked in harmony to protect the body from injury or progressive deformity. One of most common faulty posture encountered in clinical setting is forward head posture (FHP) that was considered one of the main predictors for neck pain. Furthermore, FHP may predispose to thoracic outlet syndrome, temporomandibular joint dysfunction, shoulder pain and headache. The large financial burden related to neck disorders management raises the need to improve the quality of assessment and rehabilitation of FHP. So, the purpose of the study is to compare between measurements of FHP as indicated with craniovertebral (CVA) and gaze angles assessed from dominant and non-dominant sides in football players who extensively use their dominant side and non-athletic subjects. Participants: Twenty-four subjects were divided into 12 football players and 12 non-athletic subjects. Methods: CVA and gaze angles were assessed through photogrammetric method. Photos were taken from dominant and non-dominant sides of the subjects while assuming standing position. Paired t-test was used to assess angles differences between dominant and non-dominant sides of the subjects. Since there were no statistical differences between CVA and gaze angles measured from dominant and non-dominant sides in each group, we pooled data together to become 24 measurements for each group (12 from dominant and 12 from non-dominant). Independent t-test was used to assess angles differences between football players and non-athletic subjects. Results: No significant differences were found between CVA and gaze angles measured from dominant and non-dominant sides of both groups (P>0.05). Also, there were no significant differences between CVA and gaze angles measured from football players and non-athletic subjects (P>0.05). Conclusion: FHP can be assessed from dominant or non-dominant sides interchangeably either in football players or non-athletic subjects. Furthermore, playing football has no impact on measurements of FHP when compared to non-athletic subjects.

Keywords: dominant side, forward head posture, football players, non-dominant side

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Authors: Yuri Seu, Hyun Jin Park, Jin Seo Park, Yong-Suk Moon, HongtaeKim, Mi-Sun Hur

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The present case report describes bifid ureters arising directly from the separate calyces and renal pelvis of the kidney. It was a single common ureter leading away from the bladder, which was separated into incompletely duplicated ureters near the level of the anterior superior iliac supine. These two branches then entered the left kidney through their own courses. Each ureter traveled anterior and posterior to the renal vein, respectively. These two ureters formed a Y-shaped pattern. One ureter coursed anterior to the renal vein with shorter length, and it terminated at the renal pelvis that was divided into major calices in approximately lower two thirds of the kidney. The other ureter coursed posterior to the renal vein with longer length, terminating at approximately the upper third of the kidney. The renal calices in the upper third of the kidney were directly connected to the posterior ureter, whereas the other major calices in the lower two thirds of the kidney formed the renal pelvis connecting to the anterior ureter. Thus, convergence of the major calices was separated according to the terminations of two ureters. These anomalous ureters were traced to the calices of the kidney, thereby providing a reference of a rare variation of the ureter. The bifid ureters arising from the separate calyces and renal pelvis should be considered by radiologists when evaluating images and diagnosing possible complications of these anomalies.

Keywords: bifid ureters, kidney, major calices, renal pelvis

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Authors: Amirreza Razzaghipour Sorkhab

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One of the most common disorders among humans is hearing impairment. This paper provides an evidence base that recovers understanding of Meniere’s disease and highlights the physical and mental health correlates of the disorder. Meniere's disease is more common in the elderly. The term idiopathic endolymphatic hydrops has been attributed to this disease by some in the previous. Meniere’s disease demonstrations a genetic tendency, and a family history is found in 10% of cases, with an autosomal dominant inheritance pattern. The COCH gene may be one of the hereditary factors contributing to Meniere’s disease, and the possibility of a COCH mutation should be considered in patients with Meniere’s disease symptoms. Should be considered Missense mutations in the COCH gene cause the autosomal dominant sensorineural hearing loss and vestibular disorder. Meniere’s disease is a complex, heterogeneous disorder of the inner ear and that is characterized by episodes of vertigo lasting from minutes to hours, fluctuating sensorineural hearing loss, tinnitus, and aural fullness. The existing evidence supports the suggestion that age and sleep disorder are risk factors for Meniere's disease. Many factors have been reported to precipitate the progress of Menier, including endolymphatic hydrops, immunology, viral infection, inheritance, vestibular migraine, and altered intra-labyrinthine fluid dynamics. Although there is currently no treatment that has a proven helpful effect on hearing levels or on the long-term evolution of the disease, however, in the primary stages, the hearing may improve among attacks, but a permanent hearing loss occurs in the majority of cases. Current publications have proposed a role for the intratympanic use of medicine, mostly aminoglycosides, for the control of vertigo. more than 85% of patients with Meniere's disease are helped by either changes in lifestyle and medical treatment or minimally aggressive surgical procedures such as intratympanic steroid therapy, intratympanic gentamicin therapy, and endolymphatic sac surgery. However, unilateral vestibular extirpation methods (intratympanic gentamicin, vestibular nerve section, or labyrinthectomy) are more predictable but invasive approaches to control the vertigo attacks. Medical therapy aimed at reducing endolymph volume, such as low-sodium diet, diuretic use, is the typical initial treatment.

Keywords: meniere's disease, endolymphatic hydrops, hearing loss, vertigo, tinnitus, COCH gene

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Authors: Jumanah S. Alawfi

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Polycystic ovary syndrome (PCOS) is a common endocrinopathy among females in their reproductive years. The incidence cases are nearly 1.55 million among females across the globe, with 0.43 million associated disability-adjusted life-years (DALYs). This syndrome is associated with intricate mechanisms typically characterized by insulin resistance (IR), infertility, overweight and/or obesity. Lifestyle interventions are often prescribed as an adjective treatment. Nonetheless, obesity is a complex disease that encompasses multiple dimensions, such as excessive energy intake and genetics. The melanocortin 4 receptor mutation (MC4R) is an important mediator in appetite. There is emerging evidence that suggests its role in the Body Mass Index (BMI) among PCOS subjects, which poses the question of obesity and/or overweight among the PCOS patients who carry the MC4R variants may be caused by overconsumption. Thereby, using other satiety techniques may be beneficial as a part of personalized nutrition. Therefore, the aim of the current mini-review is to discuss the effect of the vegan low glycemic diet on reducing appetite among PCOS patients. The review shows that there is a gap in the knowledge of the effect of the vegan diet on PCOS patients who carry MC4R variants which need further research.

Keywords: polycystic ovarian syndrome (PCOS), Appetite, Melanocortin 4 Receptor Mutation (MC4R)., Obesity

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Authors: Anuj Abraham, N. Pappa, Daniel Honc, Rahul Sharma

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In this paper, an analysis of some model order reduction techniques is presented. A new hybrid algorithm for model order reduction of linear time invariant systems is compared with the conventional techniques namely Balanced Truncation, Hankel Norm reduction and Dominant Pole Algorithm (DPA). The proposed hybrid algorithm is known as Clustering Dominant Pole Algorithm (CDPA) is able to compute the full set of dominant poles and its cluster center efficiently. The dominant poles of a transfer function are specific eigenvalues of the state space matrix of the corresponding dynamical system. The effectiveness of this novel technique is shown through the simulation results.

Keywords: balanced truncation, clustering, dominant pole, Hankel norm, model reduction

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Authors: Yessengali Ussenbekov, Valery Terletskiy, Orik Zhanserkenova, Shynar Kasymbekova, Indira Beyshova, Aitkali Imanbayev, Almas Serikov

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Currently, there are 46 hereditary diseases afflicting cattle with known molecular genetic diagnostic methods developed for them. Genetic anomalies frequently occur in the Holstein cattle breeds from American and Canadian bloodlines. The data on the incidence of BLAD, CVM, DUMPS and BC autosomal recessive lethal mutations in pedigree animals are discordant, the detrimental allele incidence rates are high for the Holstein cattle breed, whereas the incidence rates of these mutations are low in some breeds or they are completely absent. Data were obtained on the basis of frozen semen of stud bulls. DNA was extracted from the semen with the DNA-Sorb-B extraction kit. The lethal mutation in the genes CD18, SLC35A3, UMP and ASS of Alatau stud bulls (N=124) was detected by polymerase chain reaction and RFLP analysis. It was established that stud bulls of the local Alatau breed were not carriers of the BLAD, CVM, DUMPS, and BC detrimental mutations. However, with a view to preventing the dissemination of hereditary diseases it is recommended to monitor the pedigree stock using molecular genetic methods.

Keywords: PCR, autosomal recessive point mutation, BLAD, CVM, DUMPS, BC, stud bulls

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Authors: Angelis P. Barlampas

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Objective: The confusion of terms is a common practice in many situations of the everyday life. But, in some circumstances, such as in medicine, the precise meaning of a word curries a critical role for the health of the patient. Fahr disease and Fahr syndrome are often falsely used interchangeably, but they are two different conditions with different physical histories of different etiology and different medical management. A case of the seldom Fahr disease is presented, and a comparison with the more common Fahr syndrome follows. Materials and method: A 72 years old patient came to the emergency department, complaining of some kind of non specific medal disturbances, like anxiety, difficulty of concentrating, and tremor. The problems had a long course, but he had the impression of getting worse lately, so he decided to check them. Past history and laboratory tests were unremarkable. Then, a computed tomography examination was ordered. Results: The CT exam showed bilateral, hyperattenuating areas of heavy, dense calcium type deposits in basal ganglia, striatum, pallidum, thalami, the dentate nucleus, and the cerebral white matter of frontal, parietal and iniac lobes, as well as small areas of the pons. Taking into account the absence of any known preexisting illness and the fact that the emergency laboratory tests were without findings, a hypothesis of the rare Fahr disease was supposed. The suspicion was confirmed with further, more specific tests, which showed the lack of any other conditions which could probably share the same radiological image. Differentiating between Fahr disease and Fahr syndrome. Fahr disease: Primarily autosomal dominant Symmetrical and bilateral intracranial calcifications The patient is healthy until the middle age Absence of biochemical abnormalities. Family history consistent with autosomal dominant Fahr syndrome :Earlier between 30 to 40 years old. Symmetrical and bilateral intracranial calcifications Endocrinopathies: Idiopathic hypoparathyroidism, secondary hypoparathyroidism, hyperparathyroidism, pseudohypoparathyroidism ,pseudopseudohypoparathyroidism, e.t.c The disease appears at any age There are abnormal laboratory or imaging findings. Conclusion: Fahr disease and Fahr syndrome are not the same illness, although this is not well known to the inexperienced doctors. As clinical radiologists, we have to inform our colleagues that a radiological image, along with the patient's history, probably implies a rare condition and not something more usual and prompt the investigation to the right route. In our case, a genetic test could be done earlier and reveal the problem, and thus avoiding unnecessary and specific tests which cost in time and are uncomfortable to the patient.

Keywords: fahr disease, fahr syndrome, CT, brain calcifications

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Authors: Ilker Ali Ozkan

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In this study, an artificial neural network model has been developed to estimate chronic kidney failure which is a common disease. The patients’ age, their blood and biochemical values, and 24 input data which consists of various chronic diseases are used for the estimation process. The input data have been subjected to preprocessing because they contain both missing values and nominal values. 147 patient data which was obtained from the preprocessing have been divided into as 70% training and 30% testing data. As a result of the study, artificial neural network model with 25 neurons in the hidden layer has been found as the model with the lowest error value. Chronic kidney failure disease has been able to be estimated accurately at the rate of 99.3% using this artificial neural network model. The developed artificial neural network has been found successful for the estimation of chronic kidney failure disease using clinical data.

Keywords: estimation, artificial neural network, chronic kidney failure disease, disease diagnosis

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Authors: Xuan Li, Xiaobing Cui, Nan Meng, Shuangshuang Guo, Lingling Wang

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Objective: To investigate the influence of Paeonol on diabetic nephropathy progression in streptozocin (STZ) -induced diabetic rats. Method Male Wistar rats were injected STZ 30mg.kg-1 combined with Freund's complete adjuvant (CFA) 0.1mL/rat once a week for three weeks. The diabetic rats were treated with Paenol for 13 weeks. At the end of the experiments, the rats were anesthetized. Serum and the kidney were collected. Serum superoxide dismutase (SOD) activity, malondialdehyde (MDA), blood urea nitrogen (BUN), creatinine (Cr) and total cholesterol (Chol) level were detected; kidney paraffin sections were prepared and HE and PAS staining sections were used to evaluate the pathology changes of the kidney. Immunohistochemical analysis was used to observe the expression of VEGF and fibernectin expression in the kidney. Result The blood glucose level remained over 16mmol. L-1 for 13 weeks and the ECM accumulated in the diabetic kidney apparently. Paeonol treatment increased serum SOD activity, however, MDA, BUN, Cr, and Chol level was decreased by paeonol treatment. VEGF and fibernectin expression were increased significantly in the DN rats and paeonol treatment ameliorated the overexpression. Conclusion: paeonol prevented the progression of DN.

Keywords: paeonol, STZ, diabetic nephropathy, fibernectin expression, kidney paraffin sections

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Authors: M. R. Haji Hajikolaei, A. A. Nikvand, A. R. Ghadrdan, M. Ghorbanpoor, B. Mohammadian

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This study was carried out on water buffalo for detection of Leptospira interrogans in kidney and urine and its relationship with serological findings. Blood, urine and kidney samples were taken immediately after slaughter from 353 water buffalos at Ahvaz abattoir in Khouzestan province, Iran. Sera were initially screened at serum dilution of 1:100 against seven live antigens of Leptospira interrogans: pomona, hardjo, ballum, icterohemorrhagiae, tarasovi, australis and grippotyphosa using the microscopic agglutination test (MAT) and sera with positive results were titrated against reacting antigens in serial twofold dilution from 1:100 to 1:800. The samples of kidney were embedded in paraffin wax and 5µm thick sections were stained routinely with Haematoxylin and Eosin (H&E). Polymerase chain reaction (PCR) examination was done on urine and kidney by using LipL32 gene primers. Antibodies against one or more serovars at dilution >:100 were detected in sera. The most frequent reactor was hardjo (56.2%), followed by pomona (52.3%), australis (9.8%), tarassovi (5.9%), grippotyphosa (4.5%) and icterohaemorrhagiae (3.9%). The L. interrogans were detected in 43 (12.2%) of examined buffaloes, so that 26 (8.2%) of kidney tissues, 14 (4.8%) of urine samples separately and 3 (0.84%) of both kidney and urine samples were positive in PCR. From 153 (43.3%) buffaloes with positive MAT, 24 cases were positive by PCR of kidney and/or urine samples, synchronously. Renal lesions such as interstitial nephritis, acute tubular necrosis (ATN), pyelonephritis, glomerolonephritis, renal fibrosis and hydronephrosis were found in 128 (36.3%) cases. Statistical analysis indicated that there was no significant association between results of MAT, PCR and interstitial nephritis.

Keywords: leptospiral infection, PCR, MAT, histopathology, river buffalo

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Authors: Dipanshu Sur, Ratnabali Chakravorty

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Background: Polycystic ovary syndrome (PCOS) is the most common metabolic abnormality such as changes in lipid profile, diabetes, hypertension and metabolic syndrome occurring in young women of reproductive age. Low vitamin D levels were found to be associated with the development of obesity and insulin resistance in women with PCOS. Variants on vitamin D receptor (VDR) gene have also been related to metabolic comorbidities in general population. Aim: The aim of this case-control study was to investigate whether the VDR gene polymorphisms are associated with susceptibility to PCOS. Methods: Women with PCOS and a control group, all aged 16-40 years, were enrolled. Genotyping of VDR Fok-I (rs2228570), VDR Apa-I (rs7975232) as well as GC (rs2282679), DHCR7 (rs12785878) SNPs between groups were determined by using direct sequencing. Serum 25-hydroxyvitamin D [25(OH)] levels were measured by ELISA. Results: Mean serum 25(OH)D in the PCOS and control samples were 19.08±7 and 23.27±6.03 (p=0.048) which were significantly lower in PCOS patients compared with controls. CC genotype of the VDR Apa-I SNP was same frequent in PCOS (25.6%) and controls (25.6%) (OR: 0.9995; 95%CI: 0.528 to 1.8921; p= 0.9987). The CC genotype was also significantly associated with both lower E2 (p=0.031) and Androstenedione levels (p=0.062). We observed a significant association of GC polymorphism with 25(OH)D levels. PCOS women carrying the GG genotype (in GC genes) had significantly higher risk for vitamin D deficiency than women carrying the TT genotype. Conclusions: In conclusion, data from this study indicate that vitamin D levels are lower, and vitamin D deficiency more frequent, in PCOS than in controls. The present findings suggest that the Apa-I, Fok-I polymorphism of the VDR gene is associated with PCOS and seems to modulate ovarian steroid secretion. Further studies are needed to better clarify the biological mechanisms by which the polymorphism influences PCOS risk.

Keywords: vitamin D receptor, polymorphism, vitamin D, polycystic ovary syndrome

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Authors: Vidhi Chandra, Arshpreet Singh Grewal

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A five-year-old male child born from non-consanguineous marriage, who presented with complaints of growth retardation and no appreciable increase in the penile size since birth and he was posted for de-gloving of penis with dissection of corpora under anaesthesia. After thorough preoperative evaluation it was revealed that patient had peculiar facial dysmorphism that of Robinow Syndrome, high arched palate, Mallampati grade III, mesomelic limbs, scoliotic spine and short stature. All routine investigation were within normal limit, electrocardiography (ECG) and 2D-Echocardiography (ECHO) were normal. In antero-posterior roentgenogram chest showed butterfly and hemivertebrae at multiple levels. The patient was considered to be ASA II. On the day of surgery after ensuring fasting of 6 hours, patient was taken in operation theatre, all standard ASA monitoring was done with ECG, non-invasive blood pressure, peripheral oxygen saturation (SpO2) and body temperature. The patient was pre-oxygenated with 100% oxygen with anatomical face mask. General anaesthesia was induced with Sevoflurane 1-8%, and airway was secured with an appropriate size supraglottic airway and anaesthesia was maintained with nitrous oxide and oxygen in 1:1 ratio along with sevoflurane 2%. An ultrasound guided caudal block was given owing to the skeletal deformities making it difficult even under USG guidance. Post operatively patient was given supportive care with proper hydration, antibiotics, anti-inflammatory and analgesics. He was discharged the next day and followed up weekly for a month. DISCUSSION Robinow syndrome is genetically inherited as autosomal dominant, autosomal recessive or heterogenous disorder involving tyrosine kinase ROR2 gene located on chromosome 9. It has low incidence with no preponderance for any gender. Though intelligence is normal but developmental delay and mental retardation occurs in 20%cases

Keywords: Robinow Syndrome, dwarfism, paediatric, anaesthesia

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Authors: Vibha Kriti

Abstract:

Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder generally found in reproductive women. It is associated with significant reproductive, metabolic, cosmetic, and psychological consequences. Objective: There is a high prevalence of PCOS found among reproductive-age women, therefore, the major objective of the present study is to identify the illness perception of PCOS women and to explore the relationship between illness perception and health-related quality of life (HRQoL). Material and Method: A cross-sectional study was conducted in a university tertiary-care center, Sir Sunder Lal Hospital, Banaras Hindu University (B.H.U). Tools used for data collection were self-structured, which included socio-demographic status, illness perception questionnaire (revised version), and short-form 36 for assessing illness perception and health-related quality of life, respectively. Statistical analysis was done by SPSS version ‘24’. Results: The results of correlation analyses indicated that there is a strong relationship between strong illness perception and HRQoL. Stepwise regression indicated that illness identity, long illness duration, and severe consequences were associated with the worse outcome on emotional functioning and on social functioning. A high score on the controllability of the disease and seeking social support was significantly related to better functioning. Conclusion: Illness perception is an important factor in self-care behaviors in PCOS females and has a strong association with health-related quality of life and has a profound effect on it.

Keywords: polycystic ovary syndrome, illness perception, quality of life, young females, mental health

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Authors: Fabiana Souza Orlandi, Izabel Cristina Chavez Gomes, Barbara Isabela De Paula Morais, Ana Carolina Ottaviani

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Chronic Kidney Disease (CKD) is considered a public health problem. Patients who present CKD in their more advanced stages usually present several biopsychosocial changes, which may include pain. Pain can be considered subjective and personal, and its perception is characterized as a multidimensional experience. The objective of this study was to evaluate the level and descriptors of pain of adults and elderly patients with chronic kidney disease, through the Multidimensional Pain Evaluation Scale (EMADOR). This is a descriptive cross-sectional study with a quantitative approach. The sample consisted of 100 subjects with CKD in hemodialysis treatment at a Renal Replacement Therapy Service in the interior of the state of São Paulo. Data were collected through an individual interview, using a Sociodemographic Characterization and Multidimensional Pain Evaluation Scale (EMADOR). All ethical precepts were respected. The majority of the respondents were men (61.0%), white (56.0%) and with a high school education (34.0%). Regarding the pain of the individuals, 89 patients reported pain, with Chronic Pain predominating (50.0%, n = 50), followed by Acute Pain (39.0%, n = 39). Of the subjects who presented acute pain most of the 89.0% described the pain felt as unbearable, and of those who presented chronic pain, 35.0% described the pain felt as painful, unbearable and uncomfortable. It was concluded that there was a significant presence of pain, being the chronic pain dominant in the studied population. Faced with such factors, the present study motivates researches in this population, in order to establish interventions with the objective of improving the quality of life of these individuals.

Keywords: pain, chronic kidney disease, dialysis, evaluation

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Authors: Dipanshu Sur, Ratnabali Chakravorty

Abstract:

Introduction: Polycystic ovary syndrome (PCOS) is the most common metabolic abnormality such as changes in lipid profile, diabetes, hypertension and metabolic syndrome occurring in women. Hypovitaminsis D was found to be associated with the development of obesity and insulin resistance in women with PCOS. Aim: To evaluate the association of vitamin D levels in obese and non-obese patients with PCOS in an East Indian populations. Methods: A case control study was conducted. It enrolled 100 cases of PCOS based on Rotterdam criteria and 100 ovulatory normal cases matched for their age and BMI. Vitamin D levels were compared in the obese and non-obese PCOS groups and also with the controls. Results: The mean age of subjects was 29.48 ± 3.29 years in the PCOS group and 26.24 ± 2.56 years in the control group. Hypovitaminosis D was present in 75 out of 100 PCOS women (75.0%) and 25 women (25.0%) showed sufficient 25OHD levels ≥30 ng/ml. Women with PCOS had significantly lower total serum calcium (8.4 ± 0.25 mg/dl versus 9.8 ± 0.17 mg/dl in controls), and 25 OHD (21.2 ± 2.56 ng/ml versus 32.6 ± 2.23 ng/ml in control group) than ovulatory normal women. This difference remained significant for both groups after adjustment for BMI. Obese women in both groups had significantly lower concentration of calcium and 25OHD than normal weight patients in this study. Conclusion: Our study shows majority of the patients and controls had vitamin D deficiency and there was significant difference in the vitamin D levels in PCOS group and controls as well as obese and non-obese groups. This may reflect the vitamin D deficiency status of the community. Vitamin D deficiency should demands immediate attention as it is a severe problem among the East Indian population.

Keywords: vitamin D deficiency, polycystic ovary syndrome, obese, hypovitaminsis D

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Authors: Fangfang Wang, Fan Qu

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Polycystic ovary syndrome (PCOS), the most common endocrinopathy among women of reproductive age, is characterized by ovarian dysfunction, hyperandrogenism and reduced fecundity. The aim of this study is to investigate whether the circadian disruption is involved in pathogenesis of PCOS in androgen-induced animal model. We established a rat model of PCOS using single subcutaneous injection with testosterone propionate on the ninth day after birth, and confirmed their PCOS-like phenotypes with vaginal smears, ovarian hematoxylin and eosin (HE) staining and serum androgen measurement. The control group rats received the vehicle only. Gene expression was detected by real-time quantitative PCR. (1) Compared with control group, PCOS model rats of 10-week group showed persistently keratinized vaginal cells, while all the control rats showed at least two consecutive estrous cycles. (2) Ovarian HE staining and histological examination showed that PCOS model rats of 10-week group presented many cystic follicles with decreased numbers of granulosa cells and corpora lutea in their ovaries, while the control rats had follicles with normal layers of granulosa cells at various stages of development and several generations of corpora lutea. (3) In the 10-week group, serum free androgen index was notably higher in PCOS model rats than controls. (4) Disturbed mRNA expression patterns of core clock genes were found in ovaries of PCOS model rats of 10-week group. Abnormal expression of key genes associated with circadian rhythm in ovary may be one of the mechanisms for ovarian dysfunction in PCOS model rats induced by androgen.

Keywords: polycystic ovary syndrome, androgen, animal model, circadian disruption

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Authors: Thakur Pushpawati, Singh Vinita, Agrawal Sarita, Mohapatra Eli

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Polycystic ovary syndrome (PCOS) is a disease of endocrine and frequently encountered in women in their reproductive period, and it is characterized by clinical features of anovulation, clinical and biochemical features of hyperandrogenism, and PCOS morphology on ultrasonographic examination. In Indian scenario, only a few studies are available on the correlation of serum 25-dihydroxy vitamin D3 level and insulin level. The present study is a prospective case-control study and aims to estimate the concentration of serum 25-dihydroxy vitamin D3 and insulin resistance and determine the association of serum 25-dihydroxy vitamin D3 with insulin resistance in PCOS women of 18-40 years age group. In this study, the primary objective is to estimate the concentration of 25-dihydroxy vitamin D3, insulin, glycaemic status, calcium and phosphorus levels in 18-40 year age women with polycystic ovary syndrome and to compare these parameters with age and BMI matched healthy control of same age group women. The secondary objective is to determine the association between 25-dihydroxy vitamin D3 concentration and insulin resistance among PCOS cases in 18-40 years age group women. This study was carried on at outpatient Department of Obstetrics & Gynaecology, Aiims Raipur. It took one year from the date of approval. In case, 32 women were diagnosed (Diagnosed PCOS cases as per Rotterdoms criteria among women of 18-40 years of age), as control group 32 women of 18-40 years of age were diagnosed As a result, serum insulin level was elevated among PCOS women along with 25-dihydroxy vitamin D3 deficiency.Conclude up, PCOS is more common in the age group of 20-40 years. There is a strong correlation between vitamin D deficiency and insulin resistance among PCOS patients.

Keywords: vitamin D, insulin resistance, PCOS, reproductive age group

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Authors: Anucha Taiwong, Nirobol Kanogsunthornrat

Abstract:

This predictive research aimed to investigate the symptom clusters that influence the quality of life among patients with chronic kidney disease, as indicated in the Theory of Unpleasant Symptoms. The purposive sample consisted of 150 patients with stage 3-4 chronic kidney disease who received care at an outpatient chronic kidney disease clinic of a tertiary hospital in Roi-Et province. Data were collected from January to March 2016 by using a patient general information form, unpleasant symptom form, and quality of life (SF-36) and were analyzed by using descriptive statistics, factor analysis, and multiple regression analysis. Findings revealed six core symptom clusters including symptom cluster of the mental and emotional conditions, peripheral nerves abnormality, fatigue, gastro-intestinal tract, pain and, waste congestion. Significant predictors for quality of life were the two symptom clusters of pain (Beta = -.220; p < .05) and the mental and emotional conditions (Beta=-.204; p<.05) which had predictive value of 19.10% (R2=.191, p<.05). This study indicated that the symptom cluster of pain and the mental and emotional conditions would worsen the patients’ quality of life. Nurses should be attentive in managing the two symptom clusters to facilitate the quality of life among patients with chronic kidney disease.

Keywords: chronic kidney disease, symptom clusters, predictors of quality of life, pre-dialysis

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Authors: Sophia Shi

Abstract:

Acute kidney injury (AKI) is the sudden onset of kidney damage in which the kidneys cannot filter waste from the blood, requiring emergency hospitalization. AKI patient mortality rate is high in the ICU and is virtually impossible for doctors to predict because it is so unexpected. Currently, there is no hybrid model predicting AKI that takes advantage of two types of data. De-identified patient data from the MIMIC-III database and de-identified kidney images and corresponding patient records from the Beijing Hospital of the Ministry of Health were collected. Using data features including serum creatinine among others, two numeric models using MIMIC and Beijing Hospital data were built, and with the hospital ultrasounds, an image-only model was built. Convolutional neural networks (CNN) were used, VGG and Resnet for numeric data and Resnet for image data, and they were combined into a hybrid model by concatenating feature maps of both types of models to create a new input. This input enters another CNN block and then two fully connected layers, ending in a binary output after running through Softmax and additional code. The hybrid model successfully predicted AKI and the highest AUROC of the model was 0.953, achieving an accuracy of 90% and F1-score of 0.91. This model can be implemented into urgent clinical settings such as the ICU and aid doctors by assessing the risk of AKI shortly after the patient’s admission to the ICU, so that doctors can take preventative measures and diminish mortality risks and severe kidney damage.

Keywords: Acute kidney injury, Convolutional neural network, Hybrid deep learning, Patient record data, ResNet, Ultrasound kidney images, VGG

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Authors: Eun Gyeong Lee, Ji Young Park, Hyun Ae Woo

Abstract:

Reactive oxygen species (ROS) production is involved in ischemia/reperfusion (I/R) injury in kidney of mice. Oxidative stress develops from an imbalance between ROS production and reduced antioxidant defenses. Many enzymatic and nonenzymatic antioxidant systems including peroxiredoxins (Prxs) are present in kidney to maintain an appropriate level of ROS and prevent oxidative damage. Prxs are a family of peroxidases that reduce peroxides, with a conserved cysteine residue serving as the site of oxidation by peroxides. In this study, we examined the protective role of Prx V against I/R-induced acute kidney injury (AKI) using Prx V wild type (WT) and knockout (KO) mice. We compared the response of Prx V WT and KO mice in mice model of I/R injury. Renal structure, functions, oxidative stress markers, protein levels of oxidative damage marker were worse in Prx V KO mice. Ablation of Prx V enhanced susceptibility to I/R-induced oxidative stress. Prx V KO mice were seen to have more severe renal damage than Prx V WT mice in mice model of I/R injury. Our results demonstrate that Prx V is protective against I/R-induced AKI.

Keywords: peroxiredoxin, ischemia/reperfusion, kidney, oxidative stress

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