Search results for: renal

Authors: A. Babaei Zarch, S. Kianbakht, H. Fallah Huseini, P. Changaei, A. Mirjalili, J. Salehi

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Background: Malva Sylvestris L. has antioxidant property and is widely used in the traditional medicine to treat gastrointestinal, respiratory, skin and urological disorders. Objective: In this study the protective effect of Malva Sylvestris against sodium fluoride-induced nephrotoxicity in rat were evaluated. Methods: The Malva Sylvestris flower extract was prepared and injected intraperitoneally at the doses of 100, 200, 400 mg/kg/day to group of rats ( 10 in each group) for 1 week and subsequently 600 ppm sodium fluoride was added to the rats drinking water for 1 additional week. After these steps, the rats’ serum levels of urea, creatinine, reduced glutathione, catalase and malondialdehyde were determined. The histopathologies of the rats’ kidneys were also studied. Results: Sodium fluoride administration increased levels of BUN, creatinine glutathione, catalase activity and decreased malondialdehyde indicating induction of nephrotoxicity in rats. Malva Sylvestris extract pretreatment significantly decreased the BUN and creatinine levels (P<0.05). Moreover, the levels of catalase and glutathione were increased by Malva, and this increase were also statistically significant (P<0.05). All three doses of Malva extract decreased the malondialdehyde level, but it was significant only for the doses of 200 and 400 mg/kg/day (P<0.05). Histopathological findings also showed protective effect of Malva against renal damage induced by sodium fluoride. Conclusion: The results suggest that Malva Sylvestris has protective effect against sodium fluoride-induced nephrotoxicity maybe mediated by its antioxidant property.

Keywords: malva sylvestris, nephrotoxicity, sodium fluoride, rat

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Authors: Lauren E. Church

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Background: Extravehicular activities (EVAs) are a critical aspect of missions aboard the International Space Station (ISS). It has long been noted that the spaceflight environment and the physical demands of EVA cause physiological and metabolic changes in humans; this review aims to combine these findings with nutritional studies in analogues of the spaceflight and EVA environments to make nutritional recommendations for astronauts scheduled for and immediately returning from EVAs. Results: Energy demands increase during orbital spaceflight and see further increases during EVA. Another critical element of EVA nutrition is adequate hydration. Orbital EVA appears to provide adequate hydration under current protocol, but during lunar surface EVA (LEVA) and in a 10km lunar walk-back test astronauts have stated that up to 20% more water was needed. Previous attempts for in-suit edible sustenance have not been adequately taken up by astronauts to be economically viable. In elite endurance athletes, a mixture of glucose and fructose is used in gels, improving performance. Discussion: A combination of non-caffeinated energy drink and simple water should be available for astronauts during EVA, allowing more autonomy. There should also be provision of gels or a similar product containing appropriate sodium levels to maintain hydration, but not so much as to hyperhydrate through renal water reabsorption. It is also suggested that short breaks be built into the schedule of EVAs for these gels to be consumed, as it is speculated that reason for low uptake of in-suit sustenance is the lack of time available in which to consume it.

Keywords: astronaut, nutrition, space, sport

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Authors: Von Jerick Tenorio, Jonald Lucero, Marivic Vestal, Edwin Tiempo

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In patients with hostile aortic neck anatomy, the risks of proximal seal complications and stent migration remain with EVAR despite improved endograft technology. This case report discusses how the technical challenges of the hostile neck anatomy, proximal penetrating atherosclerotic ulcer (PAU) and tortuous femoral access were addressed. The CT aortogram of a 63-year-old hypertensive and diabetic man with recurring abdominal discomfort revealed a fusiform infra-renal aneurysm measuring 8.8 cm in length and 5.7 cm in diameter. The proximal landing zone only has a 3 mm healthy neck with a conicity of > 10% and a thrombus of 4 mm thick. Proximal to the aneurysm is a PAU with a circumferential mural thrombus. The right femoral artery is tortuous with > 90o angulation. A 20% oversized Endurant II endograft and Aptus Heli-FX EndoAnchors were deployed as prophylaxis for type I endoleaks and endograft migration consequent to the conical neck and proximal aneurysm extension consequent to the PAU. A stiff Backup Meier guide wire facilitated the deployment of the endograft. Coil embolization of the right internal iliac artery was performed as prophylaxis for type II endoleaks. EndoAnchors can be used as an adjunct to EVAR as prophylaxis for proximal seal complications and stent migration in patients with hostile aortic aneurysm neck anatomy and concomitant proximal PAU.

Keywords: endoAnchors, endoleaks, EVAR, hostile neck

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Authors: Souheila Zemmouchi

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Introduction: Diabetes is currently the leading cause of end-stage chronic kidney disease and dialysis, so it adds additional complexity to the management of chronic hemodialysis patients. These patients are extremely fragile because of their multiple cardiovascular and metabolic comorbidities. Clear and complete description of the experience: the management of a diabetic on hemodialysis is particularly difficult due to frequent hypoglycaemia and significant inter and perdialyticglycemic variability that is difficult to predict. The aim of our study is to describe the clinical-biological profile and to assess the cardiovascular risk of diabetics undergoing chronic hemodialysis, and compare them with non-diabetic hemodialysis patients. Methods: This cross-sectional, descriptive, and analytical study was carried out between January 01 and December 31, 2018, involving 309 hemodialysis patients spread over 4 centersThe data were collected prospectively then compiled and analyzed by the SPSS Version 10 software The FRAMINGHAM RISK SCORE has been used to assess cardiovascular risk in all hemodialysis patients Results: The survey involved 309 hemodialysis patients, including 83 diabetics, for a prevalence of 27% The average age 53 ± 10.2 years. The sex ratio is 1.5. 50% of diabetic hemodialysis patients retained residual diuresis against 32% in non-diabetics. In the group of diabetics, we noted more hypertension (70% versus 38% non-diabetics P 0.004), more intradialytichypoglycemia (15% versus 3% non-diabetics P 0.007), initially, vascular exhaustion was found in 4 diabetics versus 2 non-diabetics. 70% of diabetics with anuria had postdialytichyperglycemia. The study found a statistically significant difference between the different levels of cardiovascular risk according to the diabetic status. Conclusion: There are many challenges in the management of diabetics on hemodialysis, both to optimize glycemic control according to an individualized target and to coordinate comprehensive and effective care.

Keywords: hemodialysis, diabetes, chronic renal failure, glycemic control

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Authors: Marwa T. Badawy, Alaa F. Bakr, Nesrine Hegazi, Mohamed A. Farag, Ahmed Abdellatif

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Diabetes Mellitus (DM) is a chronic disease affecting a large population worldwide. Africa is rich in native medicinal plants with myriad health benefits, though less explored towards the development of specific drug therapy as in diabetes. This study aims to determine the in vivo antidiabetic potential of the well-reported and traditionally used fruits of Baobab (Adansonia digitata L.) using STZ induced diabetic model. The in-vitro cytotoxic and antioxidant properties were examined using MTT assay on L-929 fibroblast cells and DPPH antioxidant assays, respectively. The extract showed minimal cytotoxicity with an IC50 value of 105.7 µg/mL. Histopathological and immunohistochemical investigations showed the hepatoprotective and the renoprotective effects of A. digitata fruits’ extract, implying its protective effects against diabetes complications. These findings were further supported by biochemical assays, which showed that i.p., injection of a low dose (150 mg/kg) of A. digitata twice a week lowered the fasting blood glucose levels, lipid profile, hepatic and renal markers. For a comprehensive overview of extract metabolites composition, ultrahigh performance (UHPLC) analysis coupled to high-resolution tandem mass spectrometry (HRMS/MS) in synchronization with molecular networks led to the annotation of 77 metabolites, among which 50% are reported for the first time in A. digitata fruits.

Keywords: adansonia digital, diabetes mellitus, metabolomics, streptozotocin, Sprague, dawley rats

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Authors: Ali Kassem, Sharf Eldeen-Shazly, Alshemaa Lotfy

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Introduction: Contrast-induced nephropathy (CIN) has been the third leading cause of hospital-acquired renal failure. Patients with cardiac diseases are particularly at risk especially with repeated injections of contrast media. CIN is generally defined as an increase in serum creatinine concentration of > 0.5 mg/dL or 25% above baseline within 48 hours after contrast administration. Aim of work: To examine the frequency of CIN for patients undergoing cardiac catheterization at Sohag University Hospital (Upper Egypt) and to identify possible risk factors for CIN in these patients. Material and methods: The study included 104 patients with mean age 56.11 ±10.03, 64(61.5%) are males while 40(38.5%) are females. 44(42.3%) patients are diabetics, 43(41%) patients are hypertensive, 6(5.7%) patients have congestive heart failure, 69(66.3%) patients on statins, 74 (71.2 %) are on ACEIs or ARBs, 19(15.4%) are on metformin, 6 (5.8%) are on NSAIDs, 30(28.8%) are on diuretics. RESULTS: Patients were classified at the end of the study into two groups: Group A: Included 91 patients who did not develop CIN. Group B: Included 13 patients who developed CIN, of which serum creatinine raised > 0.5mg/dl in 6 patients and raised > 25% from the baseline after the procedure in 13 patients. The overall incidence of CIN was 12.5%. CIN increased with older age. There was an increase in the incidence of CIN in diabetic versus non-diabetic patients (20.5% and 6.7%) respectively. (p< 0.03). There was a highly significant increase in the incidence of CIN in patients with CHF versus those without CHF (100% and 71%) respectively, (P<0001). Patients on diuretics showed a significant increase in the incidence of CIN representing 61.5% of all patients who developed CIN. Conclusion: Older patients, diabetic patients, patients with CHF and patients on diuretics have higher risk of developing CIN during coronary catheterization and should receive reno-protective measures before contrast exposure.

Keywords: cardiac diseases, contrast-induced nephropathy, coronary catheterization, CIN

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Authors: Amna Beshir Medani Ahmed, Samia Mohammed Ali El Badwi, Ahmed El Amin Mohammed

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This work has been managed to yield toxicity information on water treatment agents in the Sudan namely polyDADMAC, using New Zealand rabbits at multiple daily oral doses for a period of 10 weeks. Thirty-three heads of New Zealand rabbits were divided into 11 groups, each of three. Group 1 animals were the undosed controls. Test groups of either species were given polyDADMAC at similar dose rates of 0.5, 2.5, 4.5, 10, 15, 20, 25, 50, 100 and 150 mg/kg body weight respectively for groups 2,3,4,5,6,7,8,9,10 and 11. Clinical signs were closely observed with postmortem and histopathological examinations. Chemical investigations included enzymatic concentrations of ALP, GOT, CK, GPT and LDH together with hematological changes in Hb, PCV, RBCs and WBCs. Mortalities occurred to variable degrees irrespective of the dose level. On polyDADMAC challenge, the test species showed clinical signs of dullness, loss of weight, anorexia, diarrhea, difficulty in respiration, hind limb paralysis and recumbency. Notably oral dosing with polyDADMAC caused lung emphysema, hepatic and renal dysfunctions, irregularity in enzymatic activities and serum metabolites, sloughing of intestinal epithelium, decreased electrolytes in serum, and splenic haemosiderosis. On evaluation of the above results, polyDADMAC was considered toxic to New Zealand rabbits at all dose rates tried. Practical implications of the results were highlighted and suggestions for future work were put forward.

Keywords: polydiallyldiethylaluminiumchloride (polyDADMAC), nubian goats, toxicity of drinking water, treatment of drinking water using chemicals

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Authors: W. Pungchompoo, A. Richardson, L. Brindle

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Background: The developing of a culturally acceptable end of life survey (the VOICES-ESRD/Thai questionnaire) is an essential instrument for evaluation health services provision of older persons with ESRD in Thailand. The focus of the questionnaire was on symptoms, symptom control and the health care needs of older people with ESRD who are managed without dialysis. Objective: The objective of this study was to develop and adapt VOICES to make it suitable for use in a population survey in Thailand. Methods: The mixed methods exploratory sequential design was focussed on modifying an instrument. Data collection: A cognitive interviewing technique was implemented, using two cycles of data collection with a sample of 10 bereaved carers and a prototype of the Thai VOICES questionnaire. Qualitative study was used to modify the developing a culturally acceptable end of life survey (the VOICES-ESRD/Thai questionnaire). Data analysis: The data were analysed by using content analysis. Results: The revisions to the prototype questionnaire were made. The results were used to adapt the VOICES questionnaire for use in a population-based survey with older ESRD patients in Thailand. Conclusions: A culturally specific questionnaire was generated during this second phase and issues with questionnaire design were rectified.

Keywords: VOICES-ESRD/Thai questionnaire, cognitive interviewing, end of life survey, health services provision, older persons with ESRD

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Authors: B. B. Siswanto, A. Halimi, K. M. H. J. Tandayu, C. Abdillah, F. Nanda , E. Chandra

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Nowadays, modern cardiac biomarkers, such as ST2 and NT-proBNP, have important roles in predicting morbidity and mortality in heart failure patients. Abnormalities of serum electrolytes, sepsis or infection, and deteriorating renal function will worsen the conditions of patients with heart failure. It is intriguing to know whether cardiac biomarkers elevations are affected by laboratory findings in heart failure patients. We recruited 65 patients from the heart failure clinic in NCVC Harapan Kita in 2014-2015. All of them have consented for laboratory examination, including cardiac biomarkers. The findings were recorded in our Research and Development Centre and analyzed using linear regression to find whether there is a relationship between laboratory findings (sodium, potassium, creatinine, and leukocytes) and ST2 or NT-proBNP. From 65 patients, 26.9% of them are female, and 73.1% are male, 69.4% patients classified as NYHA I-II and 31.6% as NYHA III-IV. The mean age is 55.7+11.4 years old; mean sodium level is 136.1+6.5 mmol/l; mean potassium level is 4.7+1.9 mmol/l; mean leukocyte count is 9184.7+3622.4 /ul; mean creatinine level is 1.2+0.5 mg/dl. From linear regression logistics, the relationship between NT-proBNP and sodium level (p<0.001), as well as leukocyte count (p=0.002) are significant, while NT-proBNP and potassium level (p=0.05), as well as creatinine level (p=0.534) are not significant. The relationship between ST2 and sodium level (p=0.501), potassium level (p=0.76), leukocyte level (p=0.897), and creatinine level (p=0.817) are not significant. To conclude, laboratory findings are more sensitive in predicting NT-proBNP elevation than ST2 elevation. Larger studies are needed to prove that NT-proBNP correlation with laboratory findings is more superior than ST2.

Keywords: heart failure, laboratory, NT-proBNP, ST2

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Authors: Raja Ezman Raja Shariff

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Acute kidney injury (AKI) is commonly seen in inpatients, and places a great cost on the NHS and patients. Timely and appropriate management is both nephron sparing and potentially life-saving. Ultrasound scanning (USS) is a well-recognised method for stratifying patients. Subsequently, the NICE AKI guidance has defined groups in whom scanning is recommended within 6 hours of request (pyonephrosis), within 24 hours (obstruction/cause unknown), and in whom routine scanning isn't recommended (cause for AKI identified). The audit looks into whether Stockport NHS Trust USS practice was in line with such recommendations. The audit evaluated 92 patients with AKI who had USS, between 01/01/14 to 30/04/14. Data collection was divided into 2 parts. Firstly, radiology request cards and the online imaging software (PACS) were evaluated. Then, the electronic case notes (ADVANTIS) was evaluated further. Based on request cards, 10% of requests were for pyonephrosis. Only 33% were scanned within 6hours and a further 33% within 24hours. 75% were requested for possible obstructions and unknown cause collectively. Of those due to possible obstruction, 71% of patients were scanned within 24 hours. Of those with unknown cause, 50% were scanned within 24 hours. 15% of requests had a cause declared and so potentially did not require scanning. Evaluation of the patients’ notes suggested further interesting findings. Firstly, potentially 39% of patients had a known cause for AKI, therefore, did not need USS. Subsequently, the cohort of unknown cause and possible obstruction was collectively reduced to 45%. Alarmingly the patient cohort with possible pyonephrosis went up to 16%, suggesting an under-recognition of this life-threatening condition. We plan to highlight these findings within our institution and make changes to encourage more appropriate requesting and timely scanning. Time will tell if we manage to save or increase our costs in this cost-conscious NHS. Patient benefits, though, seem to be guaranteed.

Keywords: AKI, ARF, kidney, renal

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Authors: Muhammad nor Farhan Sa'At, Xin Y. Lim, Terence Y. C. Tan, Siti Hajar M. Rosli, Syazwani S. Ali, Ami F. Syed Mohamed

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INTRODUCTION: Hemp (Cannabis sativa subsp. sativa), commonly used for industrial purposes, differs from marijuana by containing lower levels of delta-9-tetrahydronannabidiol- the principal psychoactive constituent in cannabis. Due to its non-psychoactive nature, there has been growing interest in hemp’s therapeutic potential, which has been investigated through pre-clinical and clinical study modalities. OBJECTIVE: To provide an overview of the current landscape of hemp research, through recent scientific findings specific to the pharmacological effects of the medicinal hemp plant and its derived compounds. METHODS: This review was conducted through a systematic search strategy according to the preferred reporting items for systematic review and meta-analysis-ScR (PRISMA-ScR) checklist on electronic databases including MEDLINE, OVID (OVFT, APC Journal Club, EBM Reviews), Cochrane Library Central and Clinicaltrials.gov. RESULTS: From 65 primary articles reviewed, there were 47 pre-clinical studies related to medicinal hemp. Interestingly, the hemp derivatives showed several potential activities such as anti-oxidative, anti-hypertensive, anti-inflammatory, anti-diabetic, anti-neuroinflammatory, anti-arthritic, anti-acne, and anti-microbial activities. Renal protective effects and estrogenic properties were also exhibited in vitro. CONCLUSION: Medicinal hemp possesses various pharmacological effects tested in vitro and in vivo. Information provided in this review could be used as tool to strengthen the study design of future clinical trial research.

Keywords: Preclinical, Herbal Medicine, Hemp, Cannabis

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Authors: Jake Tempo, Taylor Smithurst, Jen Leah, Skye Waddingham, Amanda Catlin, Richard Cetti

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Introduction: Percutaneous nephrolithotomy (PCNL) is the gold-standard procedure for removing large or complex renal stones. Many operating positions can be used, and the debate over the ideal position continues. PCNL can be a long procedure during which patients can sustain pressure injuries. These injuries are often underreported in the literature. Interface pressure mapping records the pressure loading between a surface and the patient. High pressures with prolonged loading result in ischaemia, muscle deformation, and reperfusion which can cause skin breakdown and muscular injury. We compared the peak pressure indexes of common PCNL positions to identify positions which may be at high risk of pressure injuries. We hope the data can be used to adapt high-risk positions so that the PPI can be lessened by either adapting the positions or by using adjuncts to lower PPI. Materials and Methods: We placed a 23-year-old male subject in fourteen different PCNL positions while performing interface pressure mapping. The subject was 179 cm with a weight of 63.3 kg, BMI 19.8kg/m². Results: Supine positions had a higher mean PPI (119mmHg (41-137)) compared to prone positions (64mmHg (32-89)) (p=0.046 two tailed t-test). The supine flexed position with a bolster under the flank produced the highest PPI (194mmHg), and this was at the sacrum. Peak pressure indexes >100mmHg were recorded in eight PCNL positions. Conclusion: Supine PCNL positions produce higher PPI than prone PCNL positions. Our study shows where ‘at risk’ bony prominences are for each PCNL position. Surgeons must ensure these areas are protected during prolonged operations.

Keywords: PCNL, pressure ulcer, interface pressure mapping, surgery

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Authors: Idris Garba, Aisha Rabiu Abdullahi, Mansur Yahuza, Akintade Dare

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Background: CT urography (CTU) is efficient radiological examination for the evaluation of the urinary system disorders. However, patients are exposed to a significant radiation dose which is in a way associated with increased cancer risks. Objectives: To determine Computed Tomography Dose Index following CTU, and to evaluate organs equivalent doses. Materials and Methods: A prospective cohort study was carried at a tertiary institution located in Kano northwestern. Ethical clearance was sought and obtained from the research ethics board of the institution. Demographic, scan parameters and CT radiation dose data were obtained from patients that had CTU procedure. Effective dose, organ equivalent doses, and cancer risks were estimated using SPSS statistical software version 16 and CT dose calculator software. Result: A total of 56 patients were included in the study, consisting of 29 males and 27 females. The common indication for CTU examination was found to be renal cyst seen commonly among young adults (15-44yrs). CT radiation dose values in DLP, CTDI and effective dose for CTU were 2320 mGy cm, CTDIw 9.67 mGy and 35.04 mSv respectively. The probability of cancer risks was estimated to be 600 per a million CTU examinations. Conclusion: In this study, the radiation dose for CTU is considered significantly high, with increase in cancer risks probability. Wide radiation dose variations between patient doses suggest that optimization is not fulfilled yet. Patient radiation dose estimate should be taken into consideration when imaging protocols are established for CT urography.

Keywords: CT urography, cancer risks, effective dose, radiation exposure

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Authors: O. Soji-Omoniwa, N. O. Muhammad, L. A. Usman, B. P. Omoniwa

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This study was conducted to investigate the effect of the leaf essential oil of C. sinensis harvested at 7.00a.m and 4.00p.m on some Liver and Kidney function indices of diabetic rats as well as investigate the effect of time of harvest on the observed effect. Experimental animals were divided into 4 groups (A, B, C and D). Diabetes mellitus was induced in all animals, except the normal control group (Group A), by injecting 150mg/kg body weight of alloxan monohydrate intraperitoneally. Group A received distilled water while group B (diabetic control group) was not treated. Group C and D were treated with leaf essential oil of C. sinensis harvested at 7.00 a.m and 4.00 p.m respectively at a dose of 110 mg/kg body weight every other day for 15 days. Alkaline phosphatase (ALP), Alanine Transaminase (ALT) and Aspartate Transaminase (AST) activity was evaluated in the serum, Liver and Kidney of studied animals. Total and Direct Bilirubin level, Total Protein and Globulin, Creatinine and Urea level were also evaluated. Result showed that creatinine and urea, serum ALP, AST and ALT levels was significantly reduced (p < 0.05), while the levels of total Protein and Globulin increased significantly (p < 0.05) for the treated animals compared to the diabetic control group. In conclusion, the leaf essential oil of Citrus sinensis ameliorated the impaired renal and liver function; however, the time of harvest of the leaf does not significantly affect its ameliorative effect.

Keywords: C. sinensis, function indices, harvest time, leaf essential oil.

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Authors: Ismail Celik, Gulgun Ayhan Kilcigil, Berna Guven, Zumra Kara, Arzu Onay-Besikci

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Epidermal Growth Factor Receptor is the cell-surface receptor of the ErbB (erythroblastic leukemia viral oncogene homologue receptors) family of tyrosine kinases. It plays a vital role in regulating the proliferation and differentiation of cells. However, a variety of mechanisms, such as EGFR expression, mutation, and ligand-dependent receptor dimerization, are associated with the development of various activated EGFR tumors. EGFR is highly expressed in most solid tumors, including breast, head and neck cancer, non-small cell lung cancer (NSCLC), renal, ovarian, and colon cancers. Thus, specific EGFR inhibition plays one of the key roles in cancer treatment. The compounds used in the treatment as tyrosine kinase inhibitors are known to contain the benzimidazole isosterium indole, pazopanib, and axitinibin indazole rings. In addition, benzimidazoles have been shown to exhibit protein kinase inhibitory activity in addition to their different biological activities.Based on these data, it was planned and synthesized of some oxadiazole bearing benzimidazole derivatives [N-cyclohexyl-5-((2-phenyl/substitutedphenyl-1H-benzo[d]imidazole-1-yl) methyl)-1,3,4-oxadiazole-2-amine]. EGFR kinase inhibitory efficiency of the synthesized compounds was determined by comparing them with a known kinase inhibitor erlotinib in vitro, and two of the compounds bearing phenyl (19a) and 3,4-dibenzyloxyphenyl (21a) ring exhibited significant activities.

Keywords: benzimidazole, EGFR kinase inhibitory, oxadiazole, synthesis

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Authors: Rozeena Shaikh, Syed M Shahid, Jamil Ahmad, Qaisar Mansoor, Muhammad Ismail, Abid Azhar

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Introduction: Diabetes mellitus (DM) is a prevalent non-communicable disease worldwide. In most high-income countries as well as middle-income and low- income countries. DM is among the top causes of deaths. DM may lead to many vascular complications like hypertension, nephropathy, retinopathy, neuropathy, and foot. Diabetic nephropathy (DN) characterized by persistent albuminuria is a leading cause of end stage renal failure (ESRF). Pathogenesis of diabetic nephropathy is implicated by the polymorphisms in genes encoding the components of reninangiotensin- aldosteron system (RAAS) which include angiotensinogen (AGT), angiotensin-II receptor and particularly angiotensin converting enzyme (ACE) gene. Method: Study subjects include 110 control, 110 patients with DM without hypertension, 110 patients with DM with hypertension and 110 patients with DN. Blood samples were collected for Biochemical analysis and PCR and sequencing for the specific region of both genes. Results: The frequency of DD genotype and D allele of ACE (I/D) was significantly (p<0.05) high in DM normotensive, DM hypertensive and DN patients when compared to control. The ACE G2350A genotypes and allele frequencies were significantly different (p<0.05) in DM hypertensive patients as compared to control and DN, while no difference was observed between DM normotensive and DN when compared to control. The genotypes and alleles of AGT (M268T) polymorphism were significantly different (p<0.05) in DM normotensive, DM hypertensive and DN when compared to control. Conclusion: The DD genotype and D allele of ACE (I/D), GG genotype and G allele of ACE (G2350A) and the TT genotype and T allele of AGT (M268T) polymorphism have shown a significant difference in genotype and allele frequencies between controls and patients.

Keywords: genetic variations, ACE, AGT, diabetes mellitus, diabetic nephropathy, Pakistan

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Authors: Byung Keun Yang, Jae Eun Ku, Young Seon Joo, Je Sung You, Sung Phil Chung, Hahn Shick Lee

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The purpose of this study is to review the evidence comparing the efficacy and safety between L-carnitine and extracorporeal elimination therapy in the management of acute valproic acid L-carnitine vs Extracorporeal Elimination for Acute Valproic acid Intoxication. PubMed, Embase, Cochrane library, Web of Science, KoreaMed, KMbase, and KISS were searched, using the terms carnitine and valproic acid. All studies, regardless of design, reporting efficacy or safety endpoints were included. Reference citations from identified publications were reviewed. Both English and Korean languages were included. Two authors extracted primary data elements including poisoning severity, presenting features, clinical management, and outcomes. Thirty two articles including 33 cases were identified. Poisoning severity was classified as 3 mild, 11 moderate, and 19 severe cases. Nine cases were treated with L-carnitine while 24 cases received extracorporeal therapy without L-carnitine. All patients except one expired patient treated with hemodialysis recovered clinically and no adverse effects were noted. A case report comparing two patients who ingested the same amount of valproic acid showed increased ICU stay (3 vs. 11 days) in case of delayed extracorporeal therapy. Published evidence comparing L-carnitine with extracorporeal therapy is limited. Based on the available evidence, it is reasonable to consider L-carnitine for patients with acute valproic acid overdose. In case of severe poisoning, extracorporeal therapy would also be considered in the early phase of treatment.

Keywords: carnitine, overdose, poisoning, renal dialysis, valproic acid

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Authors: M. Cabral, A. Verdin, G. Garçon, A. Touré, C. Diop, M. Fall, S. Bouhsina, D. Dewaele, F.Cazier, A. Tall Dia, P. Shirali, A. Diouf

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This case-control study dealt with the health adverse effects within the population neighboring the Mbeubeuss waste dump, which is located near the district of Malika (Diamalaye II) in Dakar (Senegal). All the household and industrial waste arising from Dakar are stored in this open landfill without being covered and are therefore possible sources of Pb and Cd contaminated air emissions and lixiviates. The objective of this study is part of improving the health of the population neighboring Mbeubeuss by determining Pb and Cd concentrations both in environment and humans, and studying possible renal function alterations within the adults. Soil and air samples were collected in the control site (Darou Salam) and the waste dump neighboring site (Diamalaye II). Control and exposed adults were recruited as living in Darou Salam (n = 52) and in Diamalaye II (n = 77). Pb and Cd concentrations in soil, air and biological samples were determined. Moreover, we were interested in analyzing some impregnation (zinc protoporphyrin, d-aminolevulinic acid dehydratase) and oxidative stress biomarkers (malonedialdehyde, gluthatione status), in addition to several nephrotoxicity parameters (creatinuria, proteinuria, lactate dehydrogenase, CC16 protein, glutathione S-transferase-alpha and retinol binding protein) in blood and/or urine. The results showed the significant Pb and Cd contamination of the soil and air samples derived from the landfill, and therefore of the neighboring population of adults. This critical exposure to environmental Pb and Cd had some harmful consequences for their health, as shown by the reported oxidative stress and nephrotoxicity signs.

Keywords: Pb and Cd environmental exposure, impregnation markers, landfill, nephrotoxicity markers

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Authors: Muhammad Shahzad Tufail, Iram Liaqat

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Silver nanoparticles (AgNPs) have wider biomedical applications due to their intensive antimicrobial activities. However, toxicity and side effects of nanomaterials like AgNPs is a subject of great controversy towards the further studies in this direction. In this study, biogenically synthesized AgNPs, previously characterized via ultraviolet (UV) visible spectroscopy, scanning electron microscopy (SEM), X-ray diffraction (XRD) and fourier transform infrared spectroscopy (FTIR), were subjected to toxicity evaluation using mice model. Albino male mice (BALB/c) were administered with 50 mgkg-1, 100 mgkg-1 and 150 mgkg-1 of AgNPs, respectively, except for control for 30 days. Log-probit regression analysis was used to measure the dosage response to determine the median lethal dose (LD50). Exposure to AgNPs caused significant changes in the levels of serum AST (P ˂ 0.05) at the 100mgkg-1 and 150mgkg-1 of AgNPs exposure, while ALT and serum creatinine (P ˃ 0.05) levels remained normal. Histopathology of male albino mice liver and kidney was studied after 30 days experimental period. Results revealed that mice exposed to heavy dose (150 mgkg-1) of AgNPs showed cell distortion, necrosis and detachment of hepatocytes in the liver. Regarding kidney, at lower concentration, normal renal structure with normal glomeruli was observed. However, at higher concentration (150 mgkg-1), kidneys showed smooth surface and dark red colour with proliferation of podocytes. It can be concluded from present study that biologically synthesized AgNPs are small to be eliminated easily by kidney and therefore the liver and kidney did not show toxicity at low concentrations.

Keywords: silver nanoparticles, pseudomonas aeruginosa, male albino mice, toxicity assessment

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Authors: Syed Dawood M. Taimur

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Background: Peripheral arterial disease (PAD) is under diagnosed in primary care practices, yet the extent of unrecognized PAD in patients with coronary artery disease (CAD) is unknown. Objective: To assess the prevalence of previously unrecognized PAD in patients undergoing coronary angiogram and to determine the relationship between the presence of PAD and severity of CAD. Material & Methods: This five years retrospective study was conducted at an invasive lab of the department of Cardiology, Ibrahim Cardiac Hospital & Research Institute from January 2010 to December 2014. Total 77 patients were included in this study. Study variables were age, sex, risk factors like hypertension, diabetes mellitus, dyslipidaemia, smoking habit and positive family history for ischemic heart disease, coronary artery and peripheral artery profile. Results: Mean age was 56.83±13.64 years, Male mean age was 53.98±15.08 years and female mean age was 54.5±1.73years. Hypertension was detected in 55.8%, diabetes in 87%, dyslipidaemia in 81.8%, smoking habits in 79.2% and 58.4% had a positive family history. After catheterization 88.3% had peripheral arterial disease and 71.4% had coronary artery disease. Out of 77 patients, 52 had both coronary and peripheral arterial disease which was statistically significant (p < .014). Coronary angiogram revealed 28.6% (22) patients had triple vessel disease, 23.3% (18) had single vessel disease, 19.5% (15) had double vessel disease and 28.6% (22) were normal coronary arteries. The peripheral angiogram revealed 54.5% had superficial femoral artery disease, 26% had anterior tibial artery disease, 27.3% had posterior tibial artery disease, 20.8% had common iliac artery disease, 15.6% had common femoral artery disease and 2.6% had renal artery disease. Conclusion: There is a strong and definite correlation between coronary and peripheral arterial disease. We found that cardiovascular risk factors were in fact risk factors for both PAD and CAD.

Keywords: coronary artery disease (CAD), peripheral artery disease(PVD), risk, factors, correlation, cathetarization

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Authors: Sharifa Alduraibi, Abir El Sadik, Ahmed Elzainy, Alaa Alduraibi, Ahmed Alsolai

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Introduction: Problem-based learning (PBL) is an active student-centered educational modality, influenced by the students' interest that required continuous motivation to improve their engagement. The new era of professional information technology facilitated the utilization of educational multimedia, such as videos, soundtracks, and photographs promoting students' learning. The aim of the present study was to introduce multimedia-enriched PBL scenarios for the first time in college of medicine, Qassim University, as an incentive for better students' engagement. In addition, students' performance and satisfaction were evaluated. Methodology: Two multimedia-enhanced PBL scenarios were implemented to the third years' students in the urinary system block. Radiological images, plain CT scan, and X-ray of the abdomen and renal nuclear scan correlated with their pathological gross photographs were added to the scenarios. One week before the first sessions, pre-recorded orientation videos for PBL tutors were submitted to clarify the multimedia incorporated in the scenarios. Other two traditional PBL scenarios devoid of multimedia demonstrating the pathological and radiological findings were designed. Results and Discussion: Comparison between the formative assessments' results by the end of the two PBL modalities was done. It revealed significant increase in students' engagement, critical thinking and practical reasoning skills during the multimedia-enhanced sessions. Students' perception survey showed great satisfaction with the new strategy. Conclusion: It could be concluded from the current work that multimedia created technology-based teaching strategy inspiring the student for self-directed thinking and promoting students' overall achievement.

Keywords: multimedia, pathology and radiology images, problem-based learning, videos

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Authors: Kamel Abd Elaziz Mohamed

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Introduction: Drug related problems (DRPs) are of major concern, affecting patients of both sex. They impose considerable economic burden on the society and the health-care systems. Aim of the work: The aim of this work was to identify and categorize drug-related problems in adult intensive care unit. Patients and methods: The study was a prospective, observational study as eighty six patients were included. They were consecutively admitted to ICU through the emergency room or transferred from the general ward due to DRPs. Parameters included in the study as length of stay in ICU, need for cardiovascular support or mechanical ventilation, dialysis, as well as APACHE II score were recorded. Results: Drug related problems represent 3.6% of the total ICU admission. The median (range) of APACHE II score for 86 patients included in the study was 17 (10-23), and length of ICU stay was 2.4 (1.5-4.2) days. In 45 patients (52%), DRP was drug over dose (group 1), while other DRP was present in the other 41 patients (48%, group 11). Patients in group 1 were older (39 years versus 32 years in group 11), with significant impaired renal function. The need of inotropic drugs and mechanical ventilation as well as the length of stay (LOS) in ICU was significantly higher in group 1. There were no significant difference in GCS between both groups, however APACHE II score was significantly higher in group 1. Only four patients (4.6%) were admitted by suicidal attempt as well as three patients (3.4%) due to trauma drug-related admissions, all were in (group 1). Nineteen percent of the patients had drug related problem due to hypoglycaemic medication followed by tranquilizer (15%). Adverse drug effect followed by failure to receive medication were the most causes of drug problem in (group11).The total mortality rate was 4.6%, all of them were eventually non preventable. Conclusion: The critically ill patients admitted due to drug related problems represented a small proportion (3.6%) of admissions to the ICU. Hypoglycaemic medication was one of the most common causes of admission by drug related problems.

Keywords: drug related problems, ICU, cost, safety

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Authors: Sonia Nemakallu, Pota Kalima

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Introduction: Vancomycin is a glycopeptide antibiotic, commonly used to treat gram-positive bacteraemia. It has been increasingly used in the critical care setting due to an increased awareness of resistant gram positive organisms. In Edinburgh both tertiary hospitals, The Western General Hospital and The Royal Infirmary Of Edinburgh, commonly use Vancomycin for a variety of infections. Administration of Vancomyicn in these hospitals is by continuous infusion as it is thought to maintain serum concentrations easier and is a simpler monitoring system. Purpose: The aim of the study was to evaluate the efficacy and reliability in which Vancomycin is used. Material and Methods: A retrospective study, over a 6-month period from January 2014 to June 2014. 91 admissions were included, all received Vancomycin by continuous infusion during their critical care stay. Results: The number one use for Vancomycin in critical care settings was in the treatment of ventilator or hospital-acquired pneumonia. Only 3% of population had MRSA. 49% of admissions were not therapeutic on day 1 post loading dose. Of those that were therapeutic on day 1 post loading dose, 39% of admissions showed no organisms in any cultures taken, 42% had organisms sensitive to Vancomycin and 19% had only organisms resistant to Vancomycin. Those that were not therapeutic on day 1 showed similar organism sensitivities. 15% of admissions had Vancomycin levels above 25 (levels should be maintained between 15-25). An increase in creatinine was proportionally seen with an increase in Vancomycin levels. Conclusion: Within Edinburgh Vancomycin is being overused in the critical care setting with only 3% of the population having highly resistant organisms. Continuous infusion have not ruled out the complexity of maintaining therapeutic levels, with a large proportion of patients not being therapeutic on day 1. Further research is also required into the nephrotoxic effects of using higher doses of Vancomycin.

Keywords: Vancomycin, continuous infusion, multi resistant organisms, sepsis, renal toxicity

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Authors: Bahar Tunctan, Sefika Pinar Kucukkavruk, Meryem Temiz-Resitoglu, Demet Sinem Guden, Ayse Nihal Sari, Seyhan Sahan-Firat, Mahesh P. Paudyal, John R. Falck, Kafait U. Malik

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We hypothesized that 20-hydroxyeicosatetraenoic acid (20-HETE) mimetics such as N-(20-hydroxyeicosa-5[Z],14[Z]-dienoyl)glycine (5,14-HEDGE) may be beneficial for preventing mortality due to inflammation induced by lipopolysaccharide (LPS). This study aims to assess the effect of 5,14-HEDGE on the LPS-induced changes in nucleotide binding domain and leucine-rich repeat protein 3 (NLRP3)/apoptosis-associated speck-like protein containing a caspase activation and recruitment domain (ASC)/pro-caspase-1 inflammasome. Rats were injected with saline (4 ml/kg) or LPS (10 mg/kg) at time 0. Blood pressure and heart rate were measured using a tail-cuff device. 5,14-HEDGE (30 mg/kg) was administered to rats 1 h after injection of saline or LPS. The rats were sacrificed 4 h after saline or LPS injection and kidney, heart, thoracic aorta, and superior mesenteric artery were isolated for measurement of caspase-1/11 p20, NLRP3, ASC, and β-actin proteins as well as interleukin-1β (IL-1β) levels. Blood pressure decreased by 33 mmHg and heart rate increased by 63 bpm in the LPS-treated rats. In the LPS-treated rats, tissue protein expression of caspase-1/11 p20, NLRP3, and ASC in addition to IL-1β levels were increased. 5,14-HEDGE prevented the LPS-induced changes. Our findings suggest that inhibition of renal, cardiac, and vascular formation/activity of NLRP3/ASC/pro-caspase-1 inflammasome involved in the protective effect of 5,14-HEDGE on LPS-induced septic shock in rats. This work was financially supported by the Mersin University (2015-AP3-1343) and USPHS NIH (PO1 HL034300).

Keywords: 5, 14-HEDGE, lipopolysaccharide, NLRP3, inflammasome, septic shock

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Authors: Magdalena Barbara Kaziuk, Waldemar Kosiba

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Background: Obesity, particularly abdominal type, lead to accelerated progress of atherosclerosis and thus affects the functioning of various human organs. Non-HDL cholesterol includes residual risk of the cardiovascular diseases which persists in patients after achieved recommended level of LDL cholesterol. The maintenance of normal body mass index plays a particularly important role in both the prevention and treatment of chronic diseases. Materials and Methods: The study covered 96 patients (55 females, 42 males, age 66,9 +/-10,2 years). The nutritional status was determined with the Waist to Height Ratio (WHtR) and the Waist to Hip Ratio (WHR). A function of the kidney was evaluated by calculating the estimated glomerular filtration rate (eGFR) using the MDRD formula. Non-high-density lipoprotein cholesterol (non-HDL) is simply the difference between the total cholesterol concentration and the HDL cholesterol concentration. Results: The higher was level of non-HDL cholesterol, the lower eGFR had studied subjects (p<0.001). Significant correlation was found between higher WHtR and lower the eGFR (p=0.002). Also underweight (30% of patient) led to obtaining lower values of eGFR in subjects over 65 years old. The poorer nutrition the lower was glomerular filtration rate. Conclusions: Nutritional statuses of patients have a significant impact on the level of kidney function. Not only accumulated excess fat in the abdominal area, but also its deficiency affects the deterioration in renal filtration. Higher level of non-HDL not only raises the residual risk of the heart disease but also influences on kidney by worsening eGFR. Proper diet in connection with physical activity should lead to achieving good nutrition in these patients and protect their kidney function.

Keywords: nutrition, non-HDL cholesterol, glomerular filtration rate, lifestyle

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Authors: Sara Ataei, Maryam Taghizadeh-Ghehi, Amir Sarayani, Asieh Ashouri, Amirhossein Moslehi, Molouk Hadjibabaie, Kheirollah Gholami

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Background: Acute kidney injury (AKI) is common in hematopoietic stem cell transplantation (HSCT) patients with an incidence of 21–73%. Prevention and early diagnosis reduces the frequency and severity of this complication. Predictive biomarkers are of major importance to timely diagnosis. Neutrophil gelatinase associated lipocalin (NGAL) is a widely investigated novel biomarker for early diagnosis of AKI. However, no study assessed NGAL for AKI diagnosis in HSCT patients. Methods: We performed further analyses on gathered data from our recent trial to evaluate the performance of urine NGAL (uNGAL) as an indicator of AKI in 72 allogeneic HSCT patients. AKI diagnosis and severity were assessed using Risk–Injury–Failure–Loss–End-stage renal disease and AKI Network criteria. We assessed uNGAL on days -6, -3, +3, +9 and +15. Results: Time-dependent Cox regression analysis revealed a statistically significant relationship between uNGAL and AKI occurrence. (HR=1.04 (1.008-1.07), P=0.01). There was a relation between uNGAL day +9 to baseline ratio and incidence of AKI (unadjusted HR=.1.047(1.012-1.083), P<0.01). The area under the receiver-operating characteristic curve for day +9 to baseline ratio was 0.86 (0.74-0.99, P<0.01) and a cut-off value of 2.62 was 85% sensitive and 83% specific in predicting AKI. Conclusions: Our results indicated that increase in uNGAL augmented the risk of AKI and the changes of day +9 uNGAL concentrations from baseline could be of value for predicting AKI in HSCT patients. Additionally uNGAL changes preceded serum creatinine rises by nearly 2 days.

Keywords: acute kidney injury, hemtopoietic stem cell transplantation, neutrophil gelatinase-associated lipocalin, Receiver-operating characteristic curve

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Authors: Kimberly Winnie Achieng Otieno

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Nairobi Hospital plays a pivotal role in healthcare provision in East and Central Africa, yet it faces challenges in providing accessible dialysis care and managing health information efficiently. This paper explores strategic interventions to enhance dialysis care, access and streamline health information management, fostering an integrated and patient-centered healthcare system. Challenges at Nairobi Hospital: The Nairobi Hospital currently grapples with insufficient dialysis machines, resulting in extended turn around time in between dialysis sessions for patients. This issue stems from both staffing bottle necks and infrastructural limitations given our growing demand for renal care services. Paper-based records and fragmented information systems hinder the hospital’s ability to manage health data effectively. A lack of hospital systems integration with other facilities jeopardizes patient care access by posing challenges. These inefficiencies hinder collaborative efforts within the healthcare network. An investment in the expanding Nairobi Hospital dialysis facilities to communities is crucial with the high number of new cases of patients with chronic kidney disease. Setting up satellite clinics that are closer to people who live in areas far from the main hospital will ensure better access. This includes acquiring physical space within the greater Nairobi region, and the incorporation of mobile dialysis units to reach underserved areas. By decentralizing services, Nairobi Hospital can extend its reach and cater to a larger patient population. Community Outreach and Education: Implementing educational programs on kidney health within local communities is vital for early detection and prevention. Collaborating with local leaders and organizations can establish a proactive approach to renal health hence reducing the demand for acute dialysis interventions. it can amplify this effort by expanding Nairobi Hospital’s corporate social responsibility outreach program. Increasing the hospital’s footprint would also require an equal ramp up of staff recruitment. Support for continuous training programs will ensure that healthcare providers stay abreast of evolving practices, contributing to improved patient outcomes and service quality. Streamlining Health Information Management: Fully embracing a shift to 100% Electronic Health Records (EHRs) is a transformative step toward efficient health information management. Customizing these systems to Nairobi Hospital’s specific needs allows for seamless data recording, retrieval, and sharing among healthcare professionals. Doing so will help the hospital guarantee a continuum of care for patients transferring from other facilities. A 100% transition to digital record will also pose its own security threats. Ensuring robust security measures protects patient data and builds trust. Adherence to healthcare data privacy regulations is non-negotiable, and a comprehensive strategy for encryption, access controls, and regular audits should be implemented. Integrating systems to enable interoperability with other healthcare providers facilitates a cohesive healthcare network. Shared information promotes a holistic understanding of patients’ medical history, minimizing redundancies and enhancing overall care quality. Implementation Strategies: To manage the transition to community-based care and EHRs effectively, a phased implementation approach is recommended. Prioritizing dialysis care improvements, at a local level, in the initial stages allows the hospital to address immediate patient needs, followed by the integration of health information management changes. Engaging hospital staff, patients, and local communities is paramount. Collaboration with government agencies, non-governmental organizations (NGOs), and international partners enhances support and resources for successful implementation. Conclusion: By strategically enhancing dialysis care access and streamlining health information management, Nairobi Hospital can strengthen its position as a leading healthcare institution in both East and Central Africa. This comprehensive approach aligns with the hospital’s commitment to providing high-quality, accessible, and patient-centered care in the evolving landscape of healthcare delivery.

Keywords: Africa, urology, diaylsis, healthcare

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Authors: ATM Emdadul Haque

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Phosphorus is an essential nutrient which is regularly consumed with food and exists in the body as phosphate. Phosphate is an important component of cellular structures and needed for bone mineralization. Excessive accumulation of phosphate is an important driving factor of mortality in chronic renal failure patients; of relevance, these patients are usually provided health care by doctors, nurses, and pharmacists. Hence, this study was planned to determine the level of awareness of the future healthcare providers about the phosphate-containing foods and beverages and to access their knowledge on the harmful effects of excess phosphate consumption. A questionnaire was developed and distributed among the year-1 medical, nursing and pharmacy students. 432 medical, nursing and pharmacy students responded with age ranging from 18-24 years. About 70% of the respondents were female with a majority (90.7%) from Malay ethnicity. Among the respondents, 29.9% were medical, 35.4% were the pharmacy and 34.7% were nursing students. 79.2% students knew that phosphate was an important component of the body, but only 61.8% knew that consuming too much phosphate could be harmful to the body. Despite 97% of the students knew that carbonated soda contained high sugar, surprisingly 77% of them did not know the presence of high phosphate in the same soda drinks; in the similar line of observation, 67% did not know the presence of it in the fast food. However, it was encouraging that 94% of the students wanted to know more about the effects of phosphate consumption, 74.3% were willing to give up drinking soda and eating fast food, and 52% considered taking green coconut water instead of soda drinks. It is, therefore, central to take an educational initiative to increase the awareness of the future healthcare providers about phosphate-containing food and its harmful effects in excessive consumptions.

Keywords: high phosphate containing foods and beverages, excessive consumption, future health care providers, phosphorus

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Authors: Nitesh Kumar, Eoin Twohig, jasparl cheema, Sadiq mawji, Yousif al najjar

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Basal cell carcinoma (BCC) is the commonest cutaneous malignancy affecting humans. Despite this, distant spread is exceptionally rare. Metastatic BCC (mBCC) is estimated to occur in 0.0028 - 0.5%. it aim to illustrate with the aid of histological slides, a case of mBCC occurring in a fit and well 67-year-old. Initial diagnosis of desmoplastic BCC was made in 2006 from a scalp biopsy with the lesion then being excised. Re-excision of local recurrence was undertaken the following year. In 2014 the patient presented with an ipsilateral level 2a mass. Fine Needle Aspiration raised the suspicion of metastatic carcinoma. The patient had excision of two nodes from the left neck alongside pharyngeal tonsillectomy and tongue base biopsies. Histologically, the nodes closely resembled the immunophenotype of the initial scalp lesion. The patient subsequently had a modified radical neck dissection, and residual mBCC was excised from the left Sternocleidomastoid muscle. In 2023 the patient developed haematuria. On further investigation bilateral lung lesions on CT were noted with subsequent biopsy confirming mBCC. Spinal and renal lesions have also been found. Histopathology showed clear resemblance of the lung metastases to both those in the neck and the primary (scalp BCC) – with no squamous differentiation seen. The time span from primary to occurrence of lung metastasis (18 years) affirms the indolent and slow growing nature of BCC.  This case fulfils Lattes and Kessler diagnostic criteria. High risk cases are described as those with advanced local presentation, primary tumour on the Head and Neck and locally recurrent lesions.

Keywords: BCC, metastasis, rare, skin cancer

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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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