The authors present the case of a 45-year-old female patient with diabetes and chronic kidney disease (CKD). She had unsatisfactory glycemic control, and showed some intellectual limitations. Her urine exam was unremarkable, and her renal ultrasound revealed single right kidney with aspects suggesting ureteropelvic junction syndrome. Her mother had also suffered from diabetes and CKD G5D presenting in the sixth to seventh decade.
An hereditary cause for CKD was considered, which led the authors to investigate an autosomal dominant cause for CKD with a tubulointerstitial phenotype, taking into account the personal and family history for diabetes and also the renal imaging; a large deletion in the HNF-1β gene was identified through Multiplex Ligand Probe Assay (MLPA) analysis, explaining the phenotype.
Genetic causes of CKD should be considered in the presence of positive family history for CKD, and the coexistence of diabetes with bland urine sediment should raise the possibility of a syndromic cause of the phenotype, namely involving HNF-1β gene mutations or deletions.
Appel F*, Ercolin S, Monteiro MM, Lomes N, Uehara S, Emori CT, Nunes EJS, El Bacha I, Oliveira AC, Feldner ACCA, Silva ISS, Silva AEB, Ferraz MLG, Parise ER and Carvalho-Filho RJ
Published on: 2nd August, 2024
Chronic infection with the hepatitis C virus (HCV) is estimated to affect 58 million people worldwide and around 700,000 individuals in Brazil. Various non-invasive markers of hepatic fibrosis have been proposed, such as transient hepatic elastography (THE) using FibroScan®. However, the reliability of the performance, by operators in the training phase is undetermined, which hinders its applicability in clinical practice. Objectives: The present study aimed to evaluate the impact of training an inexperienced operator to perform the examinations using FibroScan® in patients with chronic hepatitis C. Specifically, the frequency of unreliable results throughout the training was assessed. Methods: This is a cross-sectional study with retrospective data collection including compensated chronic hepatitis C patients who underwent the examinations using FibroScan® between March 2014 and December 2016, performed by two researchers. Included patients were divided into two groups based on the operator's experience in the examination: the Experienced Examiner (EE) group and the Examiner in Training (ET) group, with the latter divided into two phases: phase 1, consisting of the first 100 examinations, and phase 2, comprising subsequent examinations. For the reliability analysis, parameters such as success rate (SR), interquartile range (IQR) to median (Md) ratio (IQR/Md), and reliability criteria of Castéra, et al. and Boursier, et al. were used. Results: Between March 2014 and December 2016, 771 adult HCV-infected individuals were evaluated and divided into EE group (n = 161), ET phase 1 (n = 100), and ET phase 2 (n = 158), showing similar demographic, clinical, and laboratory characteristics. SR and IQR/Md ratios were similar among EE, ET phase 1, and ET phase 2 groups. The proportion of reliable results was comparable in all three groups, using Castéra, et al. reliability criteria (92.5%, 92.0%, and 97.5%, respectively) and Boursier, et al. criteria (96.9%, 95.0%, and 98.1%, respectively). Conclusion: A short training period (up to 100 examinations) seems to be sufficient for them to have good clinical applicability in the hands of an operator with initial experience in the method
Vitantonio Guglielmi*, Mario Correale and Gioacchino Leandro
Published on: 27th November, 2019
Background: This article reviews current knowledge of Gaucher’s disease (GD) and liver involvement and reports our experience: how many patients with chronic liver disease of unknown origin could be affected by Gaucher’s disease.
Patients and methods: Over 24 months, we tested 75 sine causa chronic liver disease patients (30 women and 45 men, mean age 55 years, range 15 to 77).
Results: None of the 75 patients was affected by Gaucher’s disease.
Conclusion: We believe that the chronic liver disease patient is unlikely to be affected by Gaucher’s disease. Probably this disease is to be found in cases of coexistence of hepatic disease and other symptoms of Gaucher’s disease (bone, neurological, bone marrow involvement).
Urinary tract infections are common affection in the general population.
Diagnosis is often easy in the presence of evocative clinical signs.
The diagnosis of urinary tract infection is evoked in the presence of an uropathogenic germ in the urine in sufficient quantity associated with urinary signs. The presence of lower back pain, chills, fever higher than 39° is suggestive of a high urinary tract infection localized in the kidney, the absence of fever associated with dysuria is suggestive of low urinary tract infection localized in the bladder.
Sunflower (Helianthus annuus L.) is one of the most important vegetable oil sources in the world and in our country. The preference for sunflower oil in the consumption of vegetable oil increases the importance of sunflowers in our country. Rust, downy mildew, Verticillium wilt, Sclerotinia stalk and head rot, charcoal rot, blight, and leaf spot are some of the important diseases most commonly seen in sunflowers. In some years, depending on the climatic conditions, Downy mildew (Plasmopara halstedii) is widely observed and it causes an epidemic in sunflower-planted areas in the Adana province. Genetically resistant hybrids have started to be grown in Turkey in recent years due to the resistance of downy mildew disease to fungicides. The aim of the study was to determine the status of sunflower diseases and Downy Mildew disease in Adana.
Spleen is one of the most important organ of the reticuloendothelial system and coordinates the immune response. Splenectomy is performed for hypersplenism, and staging of hematological malignancy. In conservatively followed patients, radiation therapy can be used to reduce hypersplenism symptoms. Splenectomy or palliative radiotherapy to spleen may probably cause an immune suppressive condition. This may probably local and systemic complications.
German surgeon, Vincenz Czerny, transplanted a patient’s own lipoma located in the hip to it’s breast after gland excision due to mastitis in 1895. Dr. Vincenza reported that for at least a year he didnt observe any problem on the operated breast [1]. Injection of adipose tissue to the breast has been used in breast cancer patients during breast reconstruction and lumpectomy. And in cases of revision autologous tissues are used for reconstruction. In clinical practice, many breast cancer patients apply to the clinics mostly after radiotherapy for reconstruction. Rigotti et al used purified autologous lipoaspirates in breast cancer patients with late term complications of radiation therapy and observed increase in neovascularization and wound healing [2]. Panettiere and colleagues compared aesthetic and functional features of fat grafts in radiotherapy received breast cancer patients and control group. In the fat graft group, all clinical symptoms and aesthetic scores were significantly higher than the control group [3].
In plastic surgery especially after the surgical treatment of breast cancer, prosthetic techniques, various autologous flaps or combinations of both are performed for breast reconstruction. Particularly breast reconstructions following adjuvant radiotherapy have less success rates due to adverse effects of radiotherapy [4-10]. There are reports showing reduced complications rates with use of fat grafts before and after breast reconstruction with prosthesis in patients received radiotherapy after lumpectomy or mastectomy.
With that, in patients receiving radiotherapy after fat grafting, local complications such as fat necrosis, infection can be seen more [3,11]. It was reported that adipocytes may had paracrine and endocrine interactions with tumor cells and stromal elements [12]. The fat grafts used in breast cancer were thought to cause local recurrence, distant metastasis or development of new cancers; there was no relationship in the clinical series. There is aromatase activity in the adipose tissue. Thus, fat tissue is the main source of post-menopausal estrogen hormone. Tumor cells and surrounding tissue were found to be higher in aromatase activity. Therefore, when fat tissue is injected subcutaneous or under the gland rather than into the parenchyma local recurrence risk is low [2].
When fat tissue is injected to breast, a good physical examination and mammography should be performed. After fat injection, sometimes calcifications are formed as a result of undergoing necrosis and they interfere with malignancy. Therefore before and after the procedure, mammography must be taken for comparison and existing and or newly developed calcifications should be determined.
The study was conducted in Ilu and Waliso districs of South West Shoa Zone to investigate the perception of dairy cattle producers on oestrus synchronization and mass artificial insemination services. A total of 122 respondents (38 from Ilu and 84 from Waliso districts) owning at least one lactating cow and participated in synchronization program were randomly selected and interviewed individually by using semi- structured questionnaire. Both primary and secondary data were used to generate reliable information on the intended topic. All collected data were analyzed using SPSS statistical package version 20 and the output was presented by descriptive statistics such as percentage and mean values in inform of graphs. Most of the respondents (67.15%) indicated that their satisfaction level towards synchronization and mass artificial insemination was low. Only few of them reported being satisfied as (medium-13.45%, good - 12.35% and very good - 7.05%). This might be because of shortage of feed, silent heat, poor performance of the inseminator and low awareness of farmers on the technology. From the study it was also noted that the overall percentage (26.22%) of calving rate to oestrus synchronization and mass artificial insemination was low. This might be due to heat detection problem (36%); A.I technician efficiency (29.25%), absence of A.I technician (23.9%) and distance of A.I center (10.25%). Therefore, the skill and knowledge based training should be given for both the farmers and implementers to enhance perception and adoption of the technology.
Humaira Aslam, Ali Umar, Misbah Ullah Khan*, Shehla Honey, Aman Ullah, Muhammad Ahsan Ashraf, Ghulam Ayesha, Nazia Nusrat, M Jamil, Shahid Khan and Adeel Abid
Published on: 21st August, 2024
The presence of heavy metals (HMs) on Earth is essential to all forms of life. These metals are essential for plant and animal development but can have numerous negative effects on the living environment. In this review, we looked at where HMs come from, why they are harmful, and how they affect plants. Articles indexed in Google Scholar, PubMed, Research Gate, Science Direct, and a few books on heavy metals were consulted for this study. Heavy metals are essential for plant development and growth. According to this analysis, the hazardous effects of HMs are on the rise all throughout the globe, and this trend may be attributed mostly to human activity. Because of its impact on agricultural productivity and environmental changes, soil pollution caused by HMs is among the most crucial elements. Plants have evolved very sophisticated defense systems to deal with these environmental challenges. The threat that HM stress poses to plants has attracted a lot of attention worldwide because it could stunt agriculture’s long-term expansion. In spite of their importance for plants, this study found that HMs pose a significant threat to plant life. The novelty of this review lies in its detailed examination of both the beneficial and detrimental roles of HMs, providing a balanced perspective often overlooked in current literature. The significance of this work is underscored by its potential to inform sustainable agricultural practices and environmental management strategies, as it highlights the delicate balance required to harness the benefits of HMs while mitigating their risks. Despite their necessity for plant development, this review underscores the significant risks HMs pose to plant health and ecosystems.Less than 10 cases have been reported in the literature of the association of germline BRCA1 and Squamous cell Carcinoma – the esophagus. The article focuses on the probable pathogenesis of BRCA1 mutation with non-classic malignancies and the response of Poly adenosine diphosphate ribose polymerase inhibitors (PARP) inhibitors in such a scenario. We report an unusual manifestation of the BRCA1 gene with second primary oesophageal squamous cell cancer occurring five years later to triple-negative breast cancer.
Background: Melanin production due to phenoloxidase activity is a distinctive property of Cryptococcus neoformans and Cryptococcus gattii species complex yeasts. Therefore, an agar medium containing a precursor of melanin pigment is potentially useful to identify and differentiate cryptococcal colonies from other yeasts.
Background: This study aimed to evaluate and compare the ability of Cryptococcus neoformans species complex isolates to produce brown-pigmented colonies when grown on media prepared from various plant leaves or seeds extracts.
Material and Methods: Forty-six C. neoformans species complex isolates which were obtained from various environmental and clinical samples were inoculated on different media containing coriander, cumin, soybean, lupine, flax, pumpkin, basil, peppermint, and marjoram, were observed for the rate of growth and pigment production during a five-day period.
Results: All isolates were pigmented on all media within 24-48 hours, and brown or dark brown colonies were observed in less than five days, while C. albicans grew but did not produce any pigment.
Conclusion: The differential media tested in the present study are simple and inexpensive, and represent alternative valid tools for presumptive identification of C. neoformans species complex from clinical and environmental samples
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