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Introduction: Waardenburg Syndrome (WS) type IV or Waardenburg-Shah Syndrome (WSS) is a genetic disorder characterized by sensorineural hearing loss, pigmentary defects of the hair and skin, heterochromia of the eyes, and Hirschsprung Disease (HD). There are three other forms of WS, none of which include HD. Case presentation: A 7-year-old female born to non-consanguineous parents presented to our clinic with a history of chronic constipation. She had a white forelock on the frontal aspect of the head and multiple depigmented macules on the chest and lower extremities. She also had sensorineural hearing loss. On the physical exam, her abdomen was distended but soft and non-tender. The digital rectal exam was unremarkable. Plain film of the abdomen showed dilated bowel loops. She underwent a contrast enema that showed a narrow rectum and a dilated sigmoid colon. She subsequently underwent a rectal biopsy, which confirmed the diagnosis of HD. The combination of all the features confirmed the diagnosis of WSS. She underwent a laparotomy-assisted trans-anal pull-through, from which she recovered uneventfully. Conclusion: The possibility of WSS must be considered when a patient with HD presents depigmented lesions in the body and hearing loss.

Background: Leptospirosis is most often diagnosed clinically, and a laboratory test with high diagnostic accuracy is required. Methods: IgM and IgG ELISAs using Leptospira antigens were established and evaluated in relation to the microscopic agglutination test (MAT). Antigen preparation consisted of saprophytic Leptospira biflexa to detect genus-specific antibodies (genus-specific ELISA) and a pool of the five most prevalent Leptospira interrogans serovars in Sri Lanka to detect serovar-specific antibodies (serovar-specific ELISA). IgM and IgG immune responses were studied in severe and mild leptospirosis patients (n = 100 in each group). Results: The ELISAs showed high repeatability and reproducibility. The serovar-specific IgM-ELISA showed a sensitivity of 80.2% and specificity of 89%; the genus-specific IgM-ELISA showed a sensitivity of 83.3% and specificity of 91%. The serovar- and genus-specific IgG-ELISAs showed sensitivities of 73.3% and 81.7%, respectively, and specificities of 83.3% and 83.3%, respectively. The commercial IgM-ELISA showed a sensitivity of 79.2% and specificity of 93%. The commercial IgG-ELISA showed a sensitivity of 50% and specificity of 96.7%. IgM levels observed in mild and severe leptospirosis patients were significantly higher than in the healthy control group, with mean absorbance values of 0.770, 0.778, and 0.163, respectively. Severe leptospirosis patients had significantly higher mean anti-leptospiral IgG levels compared to both mild leptospirosis patients and healthy control group subjects (0.643, 0.358, and 0.116, respectively; ANOVA, p < 0.001). The presence of anti-leptospiral IgG above an optical density of 0.643 at 1:100 could predict a high risk of severe disease. Conclusion: The serovar-specific in-house ELISA could be used for the laboratory diagnosis of leptospirosis in endemic settings. The high levels of anti-leptospiral IgG observed suggest its value as a predictor of disease severity.

Undoubtedly, all applied sciences are closely corresponding to differential equations, especially partial differential equations. This contribution aims to examine the efficiency of a modified version of the generalized exponential rational function method in solving some well-known nonlinear evolution equations. The investigated models in this article include the Zakharov–Kuznetsov, the cubic Boussinesq, and the modified regularized long-wave equation. In the structure of these solutions, various familiar elementary functions, including exponential, trigonometric, and hyperbolic functions are used. This important feature makes it easy to use these solutions in real applications. Numerical behaviors corresponding to the obtained solutions have been demonstrated through some three-dimensional diagrams in the article. This technique can be also adopted in determining wave soliton solution to other equations with partial derivatives.

Background: Treatment for polycystic ovary syndrome (PCOS) usually initiates with a series of lifestyle modifications such as diet, weight loss, and exercise. Aims: We, therefore, conducted this meta-analysis to systematically review and evaluate the possible benefits of LGD on a range of anthropometric, clinical, and biochemical parameters in women with PCOS. Methods: We performed a systematic search through major indexing databases, including Scopus, Pubmed/Medline, ISI web of science, Embase, Cochrane central, and CINAHL (1966–April 30, 2021) using key concepts of PCOS. Results: Of 935 initial publications, 542 remain after duplicates removal. Then, 141 records were removed at the title and abstract screening level. After excluding 392 literatures, we finally included 8 articles. The final selected studies included 412 overweight and obese individuals with PCOS (207 cases in LGID group and 205 patients in comparators) with a mean age of 21–32 years. Measured emotional health (3 studies, 132 participants, SMD: -1.97; 95%CI:-3.54, -0.40, P = 0.01, I2 = 89%) and body hair (3 studies, 132 participants, SMD: -0.40; 95%CI:-0.46, -0.35, P < 0.0001, I2 = 0%), were found to be significantly lower in women in LGD vs control diet groups. Moreover, infertility (3 studies, 132 participants, SMD: 1.45; 95%CI: 0.30, 2.61, P = 0.01, I2 = 79%) was significantly higher in women in LGD vs control diet groups. Conclusion: The present meta-analysis has shown that LGD may play a significant role in reducing the risk and improving the clinical and biochemical features of PCOS. So far the evidences for choosing the best dietary modalities for PCOS are not strong to make a definite recommendation.

Animal models for preeclampsia are mostly determined by the experimental induction of hypertension, proteinuria and latterly, endogenous production of anti-angiogenic factors (sFlt-1). The focus on maternal outcome measures is more immediately obvious, with comparative and sequential data of blood pressure and urine protein excretion. In non-human primates, the data concerning birthweight requires a greater number of observations and thus will be accumulated over a longer period of time and a greater number of experimental protocols. The following represents the outcome of over 20 years of experimental preeclampsia (EPE) compared with normal pregnancy outcome data in baboons. MethodsThis data represents the outcomes from 91 pregnancies over the last 25 years at the Australian National Baboon Colony. These pregnancies are attributed to females who had experimental preeclampsia (EPE) and those within the general colony. EPE was induced at day 130 (of 182 days gestation length), and in some protocols, treatments such as inhibitory RNA or placental growth factor (PlGF) were tested. All studies were approved by the institutional Animal Welfare Committee. RESULTS: The overall neonatal birthweight was 697 g ± 115 g. The average birthweight for normal males was 770 ± 105 g; and for male offspring of animals with EPE, 680 ± 113 g; for normal females was 640 ± 95 g and females from EPE pregnancies, 690 ± 43 g. There was only a significant difference in weight for females compared to males overall (p = 0.002), and there was no significant difference in birthweight for males or females subjected to EPE. Correction for treated EPE did not change the outcome. CONCLUSIONS: These data indicate that in a non-human primate model of placental dysfunction through late pregnancy acute ischaemia, there is no measurable effect on baby birthweight compared to normal pregnancy, and no impact from a number of current experimental treatment strategies., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

Background: Marjolin ulcer is a specific type of squamous cell cancer that can benefit from the use of lymphoscintigraphy.The purpose of this study was to evaluate 3 different injection techniques for sentinel node biopsy in patients with Marjolin ulcer., Methods: Forty-eight patients with Marjolin ulcer (27 male and 21 female) ranging in age from 24 to 85 years were included in our study. Intratumoral (IT), peritumoral (PT) and periscar (PS) tissue injections of radiotracer were done in 9, 10, and 29 patients respectively. Injections were done 2-4 h before surgery. Lymphoscintigraphy was done for mapping the lymphatic drainage. During surgery, lymphatic mapping and sentinel node biopsy was performed using a handheld gamma probe. After harvesting sentinel nodes, regional lymph node dissection was done., Result: Sentinel node detection rate was higher in the PS group as compared to the IT and PT groups (89.6% vs. 50% and 22.2%) respectively. False negative rate was 0%. Pathologically involved sentinel nodes were detected in 16% of the included patients of our study which led to management change. None of the patients with pathologically non-involved sentinel nodes developed regional lymph node recurrence., Conclusion: Lymphatic mapping and sentinel node biopsy is feasible in Marjolin ulcer with high detection rate and low false negative cases which by detection of regional lymph node involvement can potentially change the management of patients. Injection site may be an important factor influencing the success of the procedure and injection of the mapping material in the peri-scar normal skin proximal to the lesion is the best technique., Competing Interests: Declaration of Competing Interest No conflict of interest to declare., (Copyright © 2024 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.)

Background: The JC polyomavirus has been blamed to contribute in colorectal cancer (CRC), however, the topic is still controversial. Varying detection rate of JCPyV genome has been reported mainly due to technical reasons. Here, we provide summative data on the topic, with emphasize on technical issues., Methods: Formalin-fixed paraffin-embedded tissue samples from 50 patients with CRC, consisting of tumoral and non-cancerous marginal tissue (totally 100 samples) were included in the study. After DNA extraction, specific JCPyV T-Ag sequences were targeted using Real-time PCR. To unwind the supercoiled JCPyV genome, pretreatment with topoisomerase I, was applied. Immunohistochemical (IHC) staining was performed using an anti-T-Ag monoclonal antibody., Results: In the first attempts, no samples were found to be positive in Real-time PCR assays. However, JCPyV sequences were found in 60% of CRC tissues and 38% of non-cancerous colorectal mucosa after application of pre-treatment step with topoisomerase I enzyme (P = 0.028). T-Ag protein was found in the nuclear compartment of the stained cells in IHC assays., Conclusions: The presence of JCPyV in CRC tissues, as well as T-Ag localization in the nucleolus, where its oncogenic effect takes place, may provide supporting evidence for JCPyV involvement in CRC development. The study highlights the importance of using topoisomerase I to enhance JCPyV genome detection. Also, colorectal tissue is one of the permissive human tissue for JC resistance after preliminary infection., (Copyright © 2021 Elsevier Inc. All rights reserved.)