Intestinal tuberculosis-the challenging mimicker-in a young Sudanese patient: A case report.

This article reported a case of intestinal tuberculosis (ITB)in a young patient. ITB could mimic many other diseases such as inflammatory bowel diseases (Crohn's disease), abdominal lymphoma, and others which make it difficult to differentiate; hence, many ITB patients could get mis-diagnosed and suffer wrong treatment consequences.

Hedgehog Pathway Inhibitors: Clinical Implications and Resistance in the Treatment of Basal Cell Carcinoma.

Basal cell carcinoma (BCC) is the most common non-melanoma skin cancer and is on the rise. Most BCCs are benign; however, a very small percentage are locally advanced and metastatic. The pathway that normally regulates cell growth and proliferation is directed by the hedgehog pathway (HP). In BCC, it becomes over-stimulated due to genetic abnormalities. Treatments for BCC include local treatment by cryotherapy (liquid nitrogen), topical immunosuppression, surgery, or radiotherapy. Systemic treatment may be required in locally advanced lesions, metastatic BCC, or individuals who are inoperable. The systemic treatments of BCC act to inhibit the HP and are called hedgehog pathway inhibitors. The first one being vismodegib and the second sonidegib. Although these treatments have shown promising results, they have prominent side effects in almost all patients, with few patients having to discontinue the treatment. About 50% of patients did not respond to treatment from the beginning, some had partial responses, others had recurrence after discontinuing the drugs, and few had worsening of the disease. In this paper, we will explore the most common side effects, resistance, and different methods to overcome resistance to ensure the highest rate of cure for BCC.

Parkinson's disease: From bench to bedside.

Parkinson's disease is a very complex public health problem with different etiologies and a wide range of clinical features including motor and non-motor symptoms. The aim of the current report is to review the latest advances in the understanding of PD etiologies, diagnosis, epidemiology and an overview of the earlier and latest advances in the management of PD, from L-DOPA to adult astroglia reprogramming into dopaminergic neurons in vivo.

The underlying physiological basis of the desert rodent Meriones shawi's survival to prolonged water deprivation: Central vasopressin regulation on peripheral kidney water channels AQPs-2.

Meriones shawi (M. shawi) is a particular semi-desert rodent known by its resistance to long periods of thirst. The aim of the present investigation is to clarify the underlying mechanisms allowing M. shawi to resist to hard conditions of dehydration. For this reason we used two different approaches: i) a morphometric study, which consists in measuring the effect of dehydration on body and kidneys weights as well as the report kidney weight/body weight, ii) By immunohistochemistry, we proceed to study the effect of dehydration on the immunoreactivity of central vasopressin (AVP) and the kidney aquaporin-2 (AQP-2) which is a channel protein that allows water to permeate across cell membranes. Our results showed both a body mass decrease accompanied by a remarkable kidneys hypertrophy. The immunohistochemical study showed a significant increase of AQP-2 immunoreactivity in the medullar part of Meriones kidneys allowing probably to Meriones a great ability to water retention. Consistently, we demonstrate that the increased AQP-2 expression occurred together with an increase in vasopressin (AVP) expression in both hypothalamic supraoptic (SON) and paraventricular nucleus (PVN), which are a major hub in the osmotic control circuitry. These various changes seen either in body weight and kidneys or at the cellular level might be the basis of peripheral control of body water homeostasis, providing to M. shawia strong resistance against chronic dehydration.

Assessment of the Nutritional Status of Sudanese Primary School Pupils in Riyadh City, Kingdom of Saudi Arabia.

The study was conducted in Saudi Arabia to assess the nutritional status of primary school Sudanese pupils and explore its' correlates. Anthropometric measurements of 400 (200 males and 200 females) students of age 6-12 were taken. Their daily food intake was assessed using food frequency and 24 h recall method. Data about the socio-economic characteristics of the students' families was collected through personal interview using a questionnaire. The study revealed that 31 and 8.75 % of the respondents suffer from underweight and overweight, respectively. The respondents' average daily intake of calories and fiber was significantly lower than that of the DRI, while their intake of protein, carbohydrates, unsaturated fat, some vitamins and iron was significantly higher than that of the DRI (unbalanced meals). Apart from the family monthly income none of the hypothesized predictors of the respondents' nutritional status were found to be significantly correlated with the students' nutritional status indicators.

Predictors of abnormal bone mass density in adult patients with homozygous sickle-cell disease.

BACKGROUND: Adult patients with sickle-cell disease (SCD) often have multiple bone compactions causing tissue hypoxia and osteonecrosis. The impact on bone abnormalities lesion detected by bone mass density is not well defined. AIM: The study is a cross sectional, perspective was designed to assess the prevalence of abnormal BMD in adult Bahraini patients with SCD and to assess the predictive risk of different metabolic variables such as serum level of vitamin D3, testosterone, and parathyroid hormone in addition to lactate dehydrogenase (LDH), hemoglobin (Hb), and reticulocyte count for the development of abnormal bone density on dual X-ray absorptiometry (DXA) scan. METHOD: The study was conducted over the period of 12 months from first of January 2012 to end of December 2012. All patients were evaluated clinically for severity of SCD and abnormal bone mass density (BMD) using DXA scan. Blood samples were withdrawn for measuring the serum level of vitamin D3, testosterone, and parathyroid hormone in addition to Hb, LDH, and reticulocyte count. Multiple logistic regression analysis was used to assess risk prediction of different variables for the development of abnormal BMD on DXA with T-score ≤-2.5 standard deviation (SD). RESULTS: The study included Bahraini patients with SCD (n = 55, age 29.24 ± 9.47 years, male 60% and female 40%) compared with an age-matched healthy control group (n = 55, age 28.82 ± 8.64 years, with 62% male and 38% female). Of the 55 patients with SCD compared with the control group, there were 33 (58%) patients with low BMD and 2 (3%) in the control. Among the 33 patients with SCD and with low BMD, there were 20 (36%) with osteoporosis (T-score of ≤-2.5 SD) and 13 (24%) with osteopenia (T-score of <-1 to -2.5 SD). The most affected site of low BMD was lumbar spine (55%), followed by the radius (30%) and neck of the femur (15%). SCD patients with osteoporosis compared with the healthy subjects had significantly lower body surface area (BSA, m(2)) of 1.4 ± 0.3 vs. 1.63 ± 0.5 BMI, low level of vitamin D3 of 21.11 ± 6.95 ng/mL vs. 46.2 ± 15.19 (P < 0.001), lower testosterone level of 1.34 ± 0.54 vs. 2.18 ± 0.56 ng/mL (P < 0.001), higher reticulocyte count (P < 0.001), and higher LDH level (P < 0.001). The low serum level of vitamin D3 (<20 ng/mL) and low testosterone of <0.9 ng/mL had risk prediction (odds ratio) of 1.14 and 1.2, respectively, for abnormal BMD in SCD. In the risk prediction of other variables of parathormone (PTH), LDH, and reticulocyte, were not significant. CONCLUSION: The prevalence of abnormal bone mass density (BMD) is high (60%) in Bahraini patients with SCD. There is significant low serum level of vitamin D3 and low testosterone hormone in those with very low bone mass density (BMD) (osteoporosis and T-score <-2.5). The low serum level of vitamin D3 (<20 ng/mL) and low testosterone of <0.9 ng/mL had risk prediction (odds ratio) of 1.14 and 1.2, respectively, for abnormal BMD in SCD.

A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype.

OBJECTIVE: Cystic fibrosis (CF) has variable clinical presentation. Disease severity is partially associated with the type of mutation. The aim of this study was to report genotype-phenotype analysis of the G85E mutation. PATIENTS: The phenotype of 12 patients (8 were from the same extended family, and 5 of them were siblings from 2 families) carrying at least one copy of the G85E mutation was evaluated and compared with the phenotype of 40 patients carrying the two severe mutations, W1282X and/or DeltaF508 (group 1), and with 20 patients carrying the splicing mutation, 3849+10kb C->T, which was found to be associated with milder disease (group 2). RESULTS: A high phenotypic variability was found among the patients carrying the G85E mutation. This high variability was found among patients carrying the same genotype and among siblings. All the studied chromosomes carrying the G85E mutation had the 7T variant in the polythymidine tract at the branch/acceptor site in intron 8. Of the G85E patients, 25% had pancreatic sufficiency and none had meconium ileus, compared with 0% and 32%, respectively, of patients from group 1, and 80% and 0%, respectively, from group 2. Two patients carrying the G85E mutation had sweat chloride levels <60 mmol/L whereas all the others had typically elevated levels >80 mmol/L. Compared with group 2, patients carrying the G85E mutation were diagnosed at an earlier age and had higher sweat chloride levels, with mean values similar to group 1 but significantly more variable. Forced expiratory volume in 1 second (FEV1) was similar in the three groups, with no differences in the slope or in age-adjusted mean values of FEV1. The levels of transcripts lacking exon 9 transcribed from the G85E allele measured in 3 patients were 55%, 49%, and 35% and their FEV1 values were 82%, 83%, and 50% predicated, respectively. CONCLUSIONS: The G85E mutation shows variable clinical presentation in all clinical parameters. This variability could be seen among patients carrying on the other chromosome the same CFTR mutation, and also among siblings. This variability is not associated with the level of exon 9 skipping. Thus, the G85E mutation cannot be classified either as a severe or as a mild mutation.