Clinical and genetic characteristics of disorders of sex development in Sudanese patients

Given the scarce data on DSD in Sudan, we aimed to characterize DSD's clinical and genetic profile in Sudanese patients. We studied 60 patients with DSD using clinical data, cytogenetics, and PCR for the SRY gene. The results showed that 65% grew up as females and 35% as males. There was a high percentage of consanguineous parents (85%). Female genital mutilation (FGM) was performed in 75% of females. Patients who presented after pubertal age were 63%, with ambiguous genitalia in 61.7%, followed by primary amenorrhea (PA) in 30%. The SRY gene was positive in 3.3% of patients with 46,XX karyotype and negative in 6.7% of patients with 46,XY karyotype. 5αR2D-DSD was seen in 43.3%, gonadal dysgenesis in 21.7%, Ovotesticular syndrome in 6.7%, Swyer and Turner syndrome in 5% each, and Androgen Insensitivity Syndrome (AIS) in 3.3%. In conclusion, DSD in Sudan has a distinct profile with late presentation, dominated by 5αR2D-DSD due to the increased consanguineous marriage, and FGM represents a significant risk for DSD patients.

Compte tenu du peu de données sur le DSD au Soudan, nous avons cherché à caractériser le profil clinique et génétique du DSD chez les patients soudanais. Nous avons étudié 60 patients atteints de DSD en utilisant des données cliniques, cytogénétiques et PCR pour le gène SRY. Les résultats ont montré que 65 % ont grandi en tant que femmes et 35 % en tant qu'hommes. Il y avait un pourcentage élevé de parents consanguins (85 %). Des mutilations génitales féminines (MGF) ont été pratiquées chez 75 % des femmes. Les patientes qui se sont présentées après l'âge pubertaire étaient 63 %, avec des organes génitaux ambigus dans 61,7 %, suivis d'une aménorrhée primaire (AP) dans 30 %. Le gène SRY était positif chez 3,3 % des patients de caryotype 46,XX et négatif chez 6,7 % des patients de caryotype 46,XY. Le 5αR2D-DSD a été observé dans 43,3 %, la dysgénésie gonadique dans 21,7 %, le syndrome ovotesticulaire dans 6,7 %, le syndrome de Swyer et Turner dans 5 % chacun et le syndrome d'insensibilité aux androgènes (AIS) dans 3,3 %. En conclusion, le DSD au Soudan présente un profil distinct avec une présentation tardive, dominé par le 5αR2D-DSD en raison de l'augmentation des mariages consanguins, et les MGF représentent un risque important pour les patients DSD.

Clinical Characteristics of Urinary Bladder Cancer in the Sudan; Evidence of Pathoetiology Changes.

INTRODUCTION: Bladder cancer (BC) is highly heterogeneous with regard to clinical course, etiology, histology, and geographic distribution. Recent clinical observations suggest changes in the pattern of BC in the Sudan perhaps due to lifestyle change following the massive displacement from rural to urban areas. The present study aimed to characterize the clinical profile of the BC among Sudanese patients and compare it with what has been previous reported. MATERIAL AND METHODS: Demographic, habitual, clinical, and histopathology information of 1610 patients with BC were obtained from the hospital record of Ibn Sina specialized hospital, Soba University hospital, Khartoum North hospital and Khartoum teaching hospital during the period 2007-2019. The data was analyzed using SPSS program version 23. RESULTS: Of the 1610 cases of BC, 1480 cases (91.9%) were males and 130 cases (8.1%) were females. The most affected patients (39.3%) were those with age group ranging between 61-75 year-old. The vast majority of the patients (73%) were from urban and/or metropolitan areas of the capital Khartoum, whereas the remaining (27%) were farmers coming from rural areas. Although, smoking habits information were missed in 410 patients, 44% of the patients were smokers. History of hematuria was present in almost all cases (99.4%), whereas history of urinary bilharziasis was mentioned in 40.9% of the patients' records. The TCC histology type was seen in 77.4% of the cases, SCC in 21.1%, and adenocarcinoma in only 1.5% of all cases. The vast majority of the tumors were poorly differentiated tumors (700/52.6%), followed by moderately differentiated tumors (430/32.3%) and well differentiated ones (200/15.1%). Of the total tumors, 346/26% were Ta-T1, 456/34% were T2, and 528/40% were T3-T4a,b. Most of tumors were solid ones, accounting for 74% compared with the papillary ones (26%) with most (54.9%) of the tumor located in the lateral wall of the bladder. Although in 620 (38.5%) patients, the follow up information were missing from the records, still the recurrence of the tumors were recorded in 890 (55.3%) of the patients 6 month after the initial therapy. DISCUSSION: The results showed that poorly differentiated, muscle invasive, and high recurrent TCCs tumors dominate BC profile of Sudanese patients. It revealed also that the most affected population are those between 61-75 yearold. These findings are in clear contrast with BC profile, previously, reported in which solitary muscle invasive Bilharzia-associated SCCs tumors affecting younger population was the dominated patterns as reported by Daoud el al (1968), Malik et al., (1975) and later by Sharfi et al., (1992). Thus clear change in BC profile in Sudan is evident, perhaps due to increased urbanization and style of life that led to change in the causative etiology, and eventually the histology type. KEY WORDS: Bladder cancer, Squamous cell carcinoma, Transitional Cell Carcinoma, Post-bilharzial carcinoma.

Blood markers (lymphocyte percentages, neutrophils, CRP and ESR) can help in prioritizing rRT-PCR test for suspected COVID-19 patients in countries with limited health resources.

INTRODUCTION: the outbreak of coronavirus disease 2019 (COVID-19) started in China in December 2019 and spread causing more than 14 million cases all over the world on July 19th, 2020. Although, real-time reverse transcription polymerase chain reaction (rRT-PCR) test is the gold standard test, it needs a long time and requires specialized laboratories and highly trained personnel. All these difficulties forced many countries with reduced health resources to limit rRT-PCR tests to individuals with severe symptoms. Thus, routine blood marker that may help physicians to suspect COVID-19 and hence, prioritize patients for molecular diagnosis is badly needed. METHODS: fifty-six Sudanese COVID-19 patients admitted to Jabra hospital were included in this study. For all the patients we analyzed complete blood count (CBC), CBC, plasma levels of C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), liver function tests (LFT) and renal function tests (RFT). Statistical analysis was done using SPSS program with a significance level of p≤0.05 and confidence limits (CLs) 95%. The difference between groups was tested using Mann-Whitney test was for quantitative variables while qualitative variables was tested using chi-square (Fisher exact) test. RESULTS: the result shows that, 35 out of the 56 patients (62.5%) were male and 21 (37.5%) were females with a median age of 60-year-old for both sexes. Lymphocytes % showed decrease to 9.2 (P-value=0.000) and significant increase in neutrophils to 83.05 (P-value=0.005), ESR to 65.54 (P-value=0.000) and CRP to 91.07 (P-value=0.000). The receiver operating characteristic curve (ROC)/area under the curve (AUC) ensured the expellant result of lymphocytes % as a predictor with 92% area under the curve, neutrophils were 90% and ESR 95.8%. The percent of detecting COVID-19 positive RT-PCR (98%) for suspected individuals using ROC showed best cutoff of ≤21.8 for lymphocytes %, ≥67.7 for neutrophils, ≥37.5 for ESR, ≥6.2 for CRP and ≥7.15 for WBCs. CONCLUSION: the results also showed that, lymphocyte percentages, neutrophils, CRP and ESR may be used as markers for COVID-19 helping prioritizing individuals for rRT-PCR test.