Alkaptonuria is a rare autosomal recessive metabolic disorder characterized by a deficiency of homogentisate 1,2-dioxygenase (HGO) in the liver. This results in excretion of large quantities of homogentisic acid (HGA) (also called alkapton) in the urine and a slowly progressive deposition of homogentisic acid and its oxidative product in connective tissues. Clinical characteristic features of alkaptonuria are darkening of urine, bluish-dark pigmentation of connective tissues (ochronosis) and arthritis of large joints and spine. Cardiovascular and genitourinary systems may also be affected. In this report, we present the initial results of screening family members with history of alkaptonuria in southern region of Jordan. We present 9 cases of alkaptonuria (two males and seven females) in one Jordanian family. The history, signs and symptoms, diagnostic techniques and treatment options of alkaptonuria are reviewed in this article.

Alkaptonuria (AKU) is one of the four initially identified inborn errors of metabolism. The prevalence of AKU is unknown in Jordan. Therefore, a research project was started in April 2009 at the Faculty of Medicine/Mutah University in southern Jordan. The aims of the project were to identify people with AKU, to screen all family members with history of AKU, and to increase the awareness about the disease among health care professionals and the community in southern Jordan. Targeted family screening method was used to identify patients with AKU. In this paper, we present preliminary results of screening 17 families with history of AKU in a single village in southern region of Jordan. Forty cases with AKU were identified in this village (age range, 1-60 years). Early cases with AKU were diagnosed through out this study, two-third of patients (n = 28) were under the age of thirty. Interestingly, nine cases with AKU were identified in one family. Our experience suggests that for the identification of cases with AKU where consanguinity is common, the focus for screening should be extended to all family members. The prevalence of AKU among Jordanian is likely to be greater than the prevalence rates worldwide due to high rates of consanguineous marriages. Further studies and effective screening programs are needed to detect undiagnosed cases of AKU, to provide genetic counseling, and ultimately to prevent the occurrence of new cases of AKU in Jordan.

Objective: To identify the prevalence and factors related to fast food consumption among Mutah University students in Jordan. Methods: A cross-sectional study was conducted during the period from January-April, 2019. A sample of 503 students was recruited from different faculties. The participants were interviewed using a structured and a validated questionnaire. Height and weight were measured for the Body Mass Index (BMI) calculation. Statistical analyses were performed using descriptive, t-test and correlational methods. Results: The prevalence of regular fast food (RFF) consumption (³ 2 times/week) was 59.4%. This prevalence was significantly higher among students spending ³ 21 JD/ week (p= 0.020) and those who were not performing physical exercise (p = 0.025).  Significant correlations were found between RFF consumption and fried potato (r=0.374, p < 0.001), processed meat products (r=0.509, p < 0.001), coffee (r=0.122, p=0.006) and candies (r=0.092, p=0.039). No significant relation was found between fast-food consumption and BMI, religion, gender, field of study or living away from family. The most common reason for RFF consumption was shortage of time (38.5%). Lunch time was the most preferred time to consume fast food (70.2%). Interestingly, 32.4% of the students were willing to read the nutrient information and about two-thirds were interested to choose healthy meals if they were available in the menu. Conclusion: The prevalence of fast food consumption is high. RFF consumption is significantly related to lower physical exercise performance and the amount of pocket money. Raising awareness of university students through nutritional education is highly recommended. Continuous...

Background Alkaptonuria (AKU) is a rare genetic disease associated with the deposition of melanin-like pigments (ochronosis) in connective tissues. However, data regarding the effect of oxidative stress products on disease pathogenesis are limited. The purpose of this study was to investigate oxidative stress and related factors in patients with alkaptonuria and compare the findings with those in healthy control subjects. Methods The study sample comprised of 21 AKU patients and 19 age- and sex-matched healthy controls. Serum samples were obtained to detect the total antioxidative capacity (TAC), and oxidation degradation products of thiobarbituric acid-reactive substances, protein carbonyls, advanced oxidation protein products, and homogentisic acid levels in urine were determined. Results Serum TAC, oxidation degradation products of thiobarbituric acid-reactive substances, and protein carbonyl levels in the AKU group were higher than those measured for the control subjects, and the difference was statistically significant (P < 0.05). Moreover, a positive correlation was found between the patient’s serum protein carbonyl, patient’s age and AKU severity score (r = 0.492 and 0.746, respectively; P < 0.05). Furthermore, the protein carbonyl serum levels can be used to predict the disease severity score in alkaptonuria patients (P < 0.05). Conclusions In sum, the study results provide further support for the role of oxidation in the pathogenesis of alkaptonuria, suggesting presence of a more complex relationship than what has been previously assumed. Thus, further studies are needed to clarify these conflicting results.

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Background Mayer-Rokitansky Küster-Hauser syndrome MRKHS represents class I of congenital Müllerian anomaly, which resulted from interruption of embryonic development of the paramesonephric ducts in early pregnancy. It is characterized by uterine and proximal vaginal aplasia/hypoplasia associated with variable degree of cardiac, renal, and skeletal anomalies. We aimed to review and analyze clinically and radiologically MRKHS relying on three young sisters’ cases who presented with primary amenorrhea and were found to have features of MRKHS. Case presentation Three sisters aging 17, 20, and 25 years old presented with primary amenorrhea. Clinical workup was performed followed by ultrasound and MRI of the abdomen and pelvis, spine X-ray, audiogram, echocardiogram, hormonal study, and karyotyping. The three sisters had normal sex hormones and mature secondary sexual characteristic features. Additionally, cardiac valvular regurgitation and renal hypoplasia were recognized. Cytogenetic confirmed normal female 46 XX karyotype. MRI showed variable size and appearance of Müllerian remnant tissue of the uterus and proximal vagina. Conclusion MRKHS shows variable size and appearance of Müllerian remnant structures; however, it seems that the smaller the volume of remnant tissue the more severe associated anomalies. Associated valvular cardiac disease is documented, which was not reported before.