Persistent Mullerian duct syndrome with polycystic ovary in a young adult: A rare case report.

Persistent Mullerian Duct Syndrome (PMDS) is a type of pseudohermaphroditism that occurs in males. It is an autosomal recessive type of familial disease that is commonly associated with a history of consanguinity. We have documented this case of a 22-year-old adult male who came with acute right iliac pain; after an ultrasound scan and hormone investigations, he was diagnosed with polycystic ovarian syndrome (PCOS).

Association of mammographic density and benign breast calcifications individually or combined with hypertension, diabetes, and hypercholesterolemia in women ≥40 years of age: a retrospective study.

Recent evidence has linked certain mammographic characteristics, including breast calcifications (Bcs) and mammographic density (MD), with atherosclerotic cardiovascular disease risk factors in women, but data are limited and inconsistent. We aimed to evaluate the association of MD and/or Bcs with hypertension, diabetes, and hypercholesterolemia in women ≥40 years of age. Through hospital electronic records, we retrospectively identified mammograms of non-pregnant women aged ≥40 years and without breast cancer and retrieved reports and relevant data. MD and Bcs were recorded; risk factor status was diagnosed based on treatment profile and clinical and laboratory data. In total, 1406 women were included. MD was inversely related to hypertension, diabetes, hypercholesterolemia, triglyceride levels, age, and body mass index (BMI) (p value for trend <0.001). Bcs were positively associated with hypertension, diabetes, hypercholesterolemia, age, BMI, and elevated creatinine (p<0.05). Controlling for age and BMI, MD category A (MD-A) was independently associated with hypercholesterolemia; Bcs were independently associated with diabetes. Combining MD-A with Bcs did not increase the odds significantly. Analysis for additive interactions revealed a significant interaction between MD-A and BMI, increasing the odds of hypertension, and a trend for increased odds of diabetes by adding MD-A and/or Bcs to BMI. Decreased MD and presence of Bcs are associated with hypertension, diabetes, and hypercholesterolemia in women ≥40 years of age. MD-A may represent a new obesity index independently associated with hypercholesterolemia and additive to hypertension risk. Bcs are independently associated with diabetes. Combining MD and Bcs did not improve the odds significantly, which may reflect mechanistic differences.

Randomised trial estimating length of endotracheal tube insertion using gestational age or nasal-tragus length in newborns: a study protocol.

INTRODUCTION: Endotracheal tube (ETT) insertion depth estimation is important for optimal placement of ETT tip and balanced ventilation of the lungs. Various methods are available to determine the ETT insertion depth. The Neonatal Resuscitation Programme recommends the gestational age and nasal-tragus length (NTL) methods for estimating ETT insertion depth during cardiopulmonary resuscitation. However, the prospective data comparing these two methods is lacking. METHODS AND ANALYSIS: This is an open-label multi-centre randomised controlled trial, where gestational age and NTL methods will be used to determine the initial ETT insertion depth in term and preterm infants that are less than 28 days old, requiring oral intubation in the delivery room or neonatal intensive care unit (NICU). SITES AND SAMPLE SIZE: The trial is aimed to recruit 454 infants over 3 years across tertiary level NICUs. OUTCOMES: The primary outcome includes an optimally positioned ETT, defined as an ETT tip between the upper border of the first thoracic vertebra and the lower border of the second thoracic vertebra. The outcome is assessed by a paediatric radiologist, who will be masked to the group assignment. Secondary outcomes are malpositioned ETT tips, pneumothorax, ETT repositioning, chronic lung disease, invasive ventilation days, and death. ANALYSIS: Data will be analysed using the intention-to-treat principle. The primary and categorical secondary outcomes will be compared using the χ2 test. Adjusted risk ratios of outcomes will be calculated along with 95% CIs through multivariable logistic regression analysis, including covariates deemed biologically to influence the outcomes. ETHICS AND DISSEMINATION: The study has been approved by the PNU Research Ethics Board (20-0148) and the respective ethical review boards of the participating centres. The results will be disseminated through conference meetings, social media platforms, and publications in scientific journals. TRIAL REGISTRATION NUMBER: NCT04393337.

IL-22 and IL-22 binding protein (IL-22BP) regulate fibrosis and cirrhosis in hepatitis C virus and schistosome infections.

UNLABELLED: Interleukin (IL)-22 acts on epithelia, hepatocytes, and pancreatic cells and stimulates innate immunity, tissue protection, and repair. IL-22 may also cause inflammation and abnormal cell proliferation. The binding of IL-22 to its receptor is competed by IL-22 binding protein (IL-22BP), which may limit the deleterious effects of IL-22. The role of IL-22 and IL-22BP in chronic liver diseases is unknown. We addressed this question in individuals chronically infected with schistosomes or hepatitis C virus (HCV). We first demonstrate that schistosome eggs stimulate production of IL-22 transcripts and inhibit accumulation of IL22-BP transcripts in schistosome-infected mice, and that schistosome eggs selectively stimulate production of IL-22 in cultures of blood leukocytes from individuals chronically infected with Schistosoma japonicum. High IL-22 levels in cultures correlated with protection against hepatic fibrosis and portal hypertension. To test further the implication of IL-22/IL-22BP in hepatic disease, we analyzed common genetic variants of IL22RA2, which encodes IL-22BP, and found that the genotypes, AA, GG of rs6570136 (P = 0.003; odds ratio [OR] = 2), and CC, TT of rs2064501 (P = 0.01; OR = 2), were associated with severe fibrosis in Chinese infected with S. japonicum. We confirmed this result in Sudanese (rs6570136 GG [P = 0.0007; OR = 8.2], rs2064501 TT [P = 0.02; OR = 3.1]), and Brazilians (rs6570136 GG [P = 0.003; OR = 26], rs2064501 TC, TT (P = 0.03; OR = 11]) infected with S. mansoni. The aggravating genotypes were associated with high IL22RA2 transcripts levels. Furthermore, these same variants were also associated with HCV-induced fibrosis and cirrhosis (rs6570136 GG, GA [P = 0.007; OR = 1.7], rs2064501 TT, TC (P = 0.004; OR = 2.4]). CONCLUSIONS: These results provide strong evidence that IL-22 protects against and IL-22BP aggravates liver fibrosis and cirrhosis in humans with chronic liver infections. Thus, pharmacological modulation of IL-22 BP may be an effective strategy to limit cirrhosis.

Zenker's diverticulum: a case report and literature review.

The pharyngeal pouch (Zenker's diverticulum) is a diverticulum of the mucosa of the pharynx, just above the cricopharyngeal muscle (i.e. above the upper sphincter of the oesophagus). It occurs commonly in elderly patients (over 70 year) and the typical symptoms include dysphagia, regurgitation, chronic cough, aspiration and weight loss. We are reporting a case of an oropharyngeal dysphagia due to a Zenker's diverticulum in 75 years old Sudanese man with a chronic history of dysphagia for solids. The pathophysiology of Zenker's diverticulum, clinical presentation, and management are reviewed.

Genetic diversity of Schistosoma haematobium parasite IS NOT associated with severity of disease in an endemic area in Sudan.

BACKGROUND: Over 650 million people globally are at risk of schistosomiasis infection, while more than 200 million people are infected of which the higher disease rates occur in children. Eighty three students between 6-20 years (mean 12.45 ± 3.2) from Quran School for boys in Radwan village, Gezira state were recruited to investigate for the relationship between the genetic diversity of Schistosoma haematobium strains and the severity of the disease. METHOD: Schistosoma haematobium infection was detected by filtration of urine. Ultrasonography was done on each study subject, while PCR technique was used for genotyping via random amplified polymorphic DNA (RAPD) with A01, A02, A12, Y20 and A13 primers. A01 primer gave three different genotypes (A01-1, A01-2 and A01-3). RESULTS: About 54.2% (45/83) were S. haematobium egg positive by urine filtration. On assessment of the upper and lower urinary tract by ultrasound technique, 61.4% (51/83) were positiveand73.3% (60/83) samples were PCR positive. No significant difference was found when comparing the three different genotypes with severity of the disease. CONCLUSION: This study concludes that no association was found between the different genotypes of S.haemtobium and the severity of the disease. Examination of more samples from different areas to identify any possible differences between the parasites genes and disease severity was recommended.

Ultrasound findings in urinary shistosomaisis infection in school children in the Gezira State Central Sudan.

To evaluate the ultrasound findings of urinary schistosomiasis in Quran school (Khalwas) children in Gezira State Sudan, we studied all the students from two schools. A total of 103 boys were tested for urinary schistosomiasis using the urine filtration method. Schistosoma haematobium (S. haematobium) eggs were counted. Ultrasound was performed for all the positive subjects. Seventy-three (71%) subjects were positive for S. haematobium. The mean age was 11.3 ± 2.9 years. Sixty-six (90.4%) subjects showed urinary tract abnormalities. The findings revealed the following degrees of wall thickening: 53.0% mild, 18.2% moderate and 21.2% severe. Urinary bladder polyp(s) were noted in 43.3% (single) and 40.9% (multiple) of the subjects, and calcification of the bladder wall was observed in 7.6% subjects. Ureteric dilatation was noted in 38/73 (52.0%), while hydronephrosis was detected in 19/73 (26.3%). The vast majority of urinary tract schistomiasis lesions were in the urinary bladder. Ultrasound is a useful tool for identifying the morbidity of S. haematobium in endemic areas.

Clinical presentation and outcome of retinoblastoma among children treated at the National Cancer Institute (NCI) in Gezira, Sudan: a single Institution experience.

BACKGROUND: Retinoblastoma (RB) is a rare and unique cancer that affects the eyes of very young children. There are few reports on RB in Sudan. MATERIALS AND METHODS: We performed a retrospective study of data from patients diagnosed with retinoblastoma between January 1999 and December 2009 at the National Cancer Institute in Gezira (NCI-Gezira). RESULTS: Of the 519 cases of childhood cancer treated at NCI-Gezira during the study period, 25 (4.8%) were retinoblastoma. Of these 25 patients with retinoblastoma, there were 13 boys and 19 cases were unilateral. The median age at diagnosis was 36 months (range, 8-60 months). The disease was localized in 9 patients, regional in 5 patients, and metastatic in 11 patients. The most frequent symptoms were enlarged eye (n = 14) and leukocoria (n = 8). Nine patients (36%) have been lost to follow-up; 9 were alive at last follow-up (7 in remission, 2 progressed); and 7 have died (5 from disease and 2 from unrelated causes). Twenty-two eyes were enucleated in 16 patients (6 bilateral and 10 unilateral). Pathologic examination of the enucleated eyes could only be completed in 11 patients. Diagnostic imaging in the form of computerized tomography scans or ultrasonography of the brain and orbit was done for 10 patients (40%). CONCLUSIONS: Although these findings are not surprising, and similar to reports from other developing countries, we hope our work will provide a foundation for strategies to improve outcome for retinoblastoma in our center such as proper training, public awareness, team approach, and twinning.

Thyroglossal Duct Cyst Imaging: Thyroid Scintigraphy Versus Ultrasound

The two imaging modalities most frequently used in thyroglossal duct cyst (TDC) are thyroid scintigraphy and ultrasound. The imaging is mainly used to exclude the cyst from being the only functioning ectopic thyroid tissue. The main objective of this study is to compare the results of scintigraphy and ultrasound. Methods: A total of 56 patients referred to the National Cancer Institute (NCI); University of Gezira in the period from Jan 2007 to Dec 2009 were included in this study; 30 females and 26 males patients; with median of 12.5 years. Data were analyzed by SPSS software. Results: Both thyroid scintigraphy and ultrasound reached the same imaging findings i.e. 53 patients with TDC and 3 patients with ectopic thyroid tissues. The Fisher exact test revealed no significant difference between the two modalities final results (P- value = 1). In addition; Pearson correlation showed complete correlation between the final ultrasound and scintigraphy results (R2 = 1; P-value 0.0001). Furthermore; ultrasound has provided detailed cyst characterization. Conclusion: Both modalities revealed almost identical results. Ultrasound has the additional advantages of being non-ionizing radiation and accurately localizes and characterizes the TDC

Variants of CTGF are associated with hepatic fibrosis in Chinese, Sudanese, and Brazilians infected with schistosomes.

Abnormal fibrosis occurs during chronic hepatic inflammations and is the principal cause of death in hepatitis C virus and schistosome infections. Hepatic fibrosis (HF) may develop either slowly or rapidly in schistosome-infected subjects. This depends, in part, on a major genetic control exerted by genes of chromosome 6q23. A gene (connective tissue growth factor [CTGF]) is located in that region that encodes a strongly fibrogenic molecule. We show that the single nucleotide polymorphism (SNP) rs9402373 that lies close to CTGF is associated with severe HF (P = 2 x 10(-6); odds ratio [OR] = 2.01; confidence interval of OR [CI] = 1.51-2.7) in two Chinese samples, in Sudanese, and in Brazilians infected with either Schistosoma japonicum or S. mansoni. Furthermore, SNP rs12526196, also located close to CTGF, is independently associated with severe fibrosis (P = 6 x 10(-4); OR = 1.94; CI = 1.32-2.82) in the Chinese and Sudanese subjects. Both variants affect nuclear factor binding and may alter gene transcription or transcript stability. The identified variants may be valuable markers for the prediction of disease progression, and identify a critical step in the development of HF that could be a target for chemotherapy.