Analysis of SLC7A9 gene mutations among Jordanian patients with cystinuria.

BACKGROUND: Cystinuria is known as a heritable disorder affecting the cysteine reabsorption by renal system as well as the reabsorption of dibasic amino acids. The main objectives of the present study were to identify genetic mutations in SLC7A9 gene associated with cystinuria. METHODS: A cross sectional study design was conducted. A total of 28 patients diagnosed with cystinuria were included. Molecular techniques were applied to identify genetic mutations in SLC7A9 gene. RESULTS: The mean age of study participants was 31.57 ± 2.88 years, and slightly more than two thirds of participants were males. Mutations of SLC 7A9 gene showed that the majority of cases (57.1%) were homogeneous, (7.1%) heterogeneous, and slightly more than one third of patients had no mutations. There was no statistically significant relationship between mutations for the SLC7A9 gene and gender (p = 0.249). CONCLUSION: Mutations in the SLC7A9 gene are prevalent and can be used as molecular tools to diagnose cystinuria.

Overactive bladder and associated psychological symptoms: A possible link to vitamin D and calcium.

INTRODUCTION: Overactive bladder (OAB) is a prevalent syndrome that is associated with multiple urinary tract symptoms and could affect the patient's quality of life and well-being. Vitamin D is shown to be linked to OAB syndrome, which exacerbated by stress conditions. This study evaluated the relationship between vitamin D status, daily calcium intake and OAB, and the associated psychological symptoms. METHODS: The study included 55 patients with OAB and 129 healthy controls. Psychological symptoms were assessed using the Hospital Anxiety and Depression Scale (HADS). Serum vitamin D was measured. Patients with OAB with low vitamin D level received orally vitamin D supplementation. Urinary symptoms, psychological symptoms, and quality of life were evaluated before and after vitamin D supplementation plus dairy products. RESULTS: Vitamin D deficiency was more prevalent in cases (80%) vs controls (34.9%). Depression (43.7% vs 20.2%) and anxiety (52.8% vs 10.9%) scores (HADS, ≥8) were also more frequent in cases vs controls, respectively. Some 85.5% of the patients' group had musculoskeletal pain vs 0.0% for the control. Depression was negatively correlated with daily calcium intake and positively with anxiety. Logistic regression analysis revealed that age, vitamin D, and anxiety scores were significant predictors of OAB. Vitamin D supplements with increased calcium intake had significant improvement in urinary symptoms, psychological distress, and quality of life. CONCLUSIONS: Vitamin D supplements and improved calcium intake may improve urinary and psychological symptoms and quality of life among patients with OAB syndrome. Assessment for vitamin D status in patients with OAB may be warranted.

Nutcracker syndrome associated with celiacomesentric trunk anomaly: case report.

INTRODUCTION: Nutcracker syndrome is a rare disease entity that is caused by entrapment of the left renal vein between the aorta and superior mesenteric artery, usually due to abnormal branching of the superior mesenteric artery from the aorta causing renal venous hypertension. The symptoms vary from asymptomatic hematuria to severe pelvic congestion. Celiacomes-enteric trunk anomaly is a rare variation of splanchnic artery anomaly that occurs when the celiac trunk and superior mesenteric arteries have a common origin from the aorta. A disease involving the rarely encountered celiacomesenteric trunk anomaly is extremely uncommon. To our knowledge, association between nutcracker syndrome and celiacomesentric trunk anomaly has not been reported in the literature. CASE PRESENTATION: A 14-year-old boy with no significant past medical history presented with a 3-year painless hematuria. CT-angiogram revealed anterior nutcracker syndrome with celiacomesenteric trunk anomaly. The patient was managed conservatively with close follow-up. CONCLUSION: Nutcracker syndrome associated with celiacomesenteric trunk anomaly is extremely uncommon and is a rare cause of hematuria in children. Whether this abnormal anatomy is the cause of nutcracker syndrome or just an association should be investigated. Moreover, awareness of this anatomical variation may help in planning therapeutic options and reducing the chance of surgical iatrogenic injuries.