Noninvasive high frequency oscillatory ventilation versus noninvasive positive pressure ventilation in preterm neonates after extubation: A randomized controlled trial.

BACKGROUND: Weaning from mechanical ventilation is a challenging phase of neonatal respiratory support [1]. Choosing efficient and safe noninvasive modality to prevent re-intubation and choosing the optimal time for weaning are key points for weaning success. The aim of the study is to compare the efficiency and safety of noninvasive high frequency oscillatory ventilation (NHFOV) versus noninvasive positive pressure ventilation (NIPPV) as respiratory support after extubation in preterms with respiratory distress syndrome (RDS). Also, the study compared the lung ultrasound findings between these 2 modalities and assessed the use of lung ultrasound score (LUS) as predictor for extubation outcome. METHODS: This study is a randomized controlled trial conducted on 60 preterm neonates with RDS. Patients were allocated into one of 2 groups: NIPPV or NHFOV as post-extubation noninvasive respiratory support. The 2 groups were compared regarding the incidence of extubation failure within 72 hours from extubation, oxygen needs, duration of application of the noninvasive modality, duration of admission, safety and mortality rate. LUS was assessed pre-extubation and 2 hours post-extubation. RESULTS: The study did not show a statistically significant difference in re-ventilation rate in NHFOV group (23.3%) compared to NIPPV group (30.0%), p = 0.56. Oxygen needs were significantly lower in NHFOV group compared to NIPPV groups (mean FiO2 31.8±6.09 vs 38±0.55, p = 0.007). The duration of the used noninvasive modality, CO2 concentration, LUS, and mortality rate showed statistically insignificant difference between both groups. There was a significant correlation between LUS and extubation outcome. CONCLUSION: NHFOV is a feasible noninvasive modality for respiratory support post-extubation in premature infants. LUS is a good predictor of extubation outcome in neonates.

Ultrasound-guided fascia iliaca block versus quadratus lumborum block for perioperative analgesia in patients undergoing hip surgery. A randomised controlled trial.

INTRODUCTION: Femoral neck fractures are common orthopaedic fractures, especially in old age, and they represent a life-threatening condition requiring surgical intervention. In this study, we aimed to compare 2 regional techniques used to decrease perioperative pain. MATERIAL AND METHODS: In this parallel group randomized controlled clinical trial we enrolled 68 patients from both sexes scheduled for hip surgery after femoral neck fractures. The patients were randomly allocated to 2 equal groups with one receiving ultrasound- guided supra-inguinal fascia iliaca block (FIB) and the other receiving ultrasound- guided anterior quadratus lumborum block (QLB). Our primary outcome was the duration of postoperative analgesia. The secondary outcome was measuring the Visual Analog Scale (VAS) during patient positioning while applying the neuraxial block, the total analgesic requirement in the postoperative period, patient satisfaction in the postoperative period, and the frequency of adverse effects. RESULTS: The group receiving supra-inguinal FIB had a significantly longer time of postoperative analgesia 18 (4-24), compared to the group receiving anterior QLB 2 (1-24), P = 0.005. They consumed less morphine throughout 24 hours postoperatively, 5.3 ± 0.9 mg compared to 6.9 ± 1.87 mg (95% CI: 6.45-3.92, P = 0.008), and they showed less pain during positioning for spinal anaesthesia. CONCLUSIONS: Supra-inguinal FIB provides prolonged postoperative analgesia compared to anterior QLB in patients undergoing hip surgery. It was associated with less pain during positioning in spinal anaesthesia and decreased total morphine consumption.

Serum LINC00305 expression and its genetic variant rs2850711 are associated with clinical and laboratory features of rheumatoid arthritis.

BACKGROUND: Long intergenic non-protein coding (lnc) RNA 00305 (LINC00305) is a pro-inflammatory atherosclerosis-associated lncRNA. We hypothesised that LINC00305 expression and its variant rs2850711 (A/T) are implicated in rheumatoid arthritis (RA) and linked with clinical and routine laboratory markers. METHODS: 100 RA patients and 100 healthy controls were recruited. LINC00305 genotyping and expression were performed using allelic-discrimination PCR and quantitative real-time PCR. LINC00305 diagnostic power was evaluated using area under the receiver operating characteristic curve (AUC). Serum nuclear factor- κB (NF-κB) and matrix metalloproteinase-3 (MMP-3) levels were determined by ELISA, standard laboratory markers by routine methods. RESULTS: LINC00305 expression was significantly increased in RA patients and positively correlated with DAS28, C-reactive protein, erythrocyte sedimentation rate, rheumatoid factor and anti-cyclic citrullinated peptide antibody. In multivariate analysis, NF-κB, MMP-3 and LINC00305 were significant predictors of RA (P< 0.0001). Individuals carrying AT and TT genotypes of rs2850711 polymorphism had significantly more likely to have RA than AA genotype carriers (P< 0.05). LINC00305 expression, DAS28 score and serum levels of NF-κB and MMP-3 were significantly increased in the patients carrying LINC00305 AT and TT genotypes as compared with AA genotype patients (P< 0.01). CONCLUSION: Increased expression level of LINC00305 and its rs2850711 genetic variant may play a role in the diagnosis and management of RA, and its severity and activity.

Putative periodontal pathogens in the subgingival plaque of Sudanese subjects with aggressive periodontitis.

BACKGROUND AND OBJECTIVES: There has been limited study of the bacterial species associated with aggressive periodontitis (AgP) in high-risk populations in Africa. The aim of this study was to investigate and quantify the presence of four putative periodontal pathogens in the subgingival plaque of Sudanese subjects with AgP. A secondary aim was to investigate the effect of varying the detection threshold on the reported prevalence of the bacterial species investigated. MATERIALS AND METHODS: Subgingival plaque samples were collected from AgP cases (n=73) and healthy controls (n=71). Bacterial DNA was extracted and analyzed by quantitative polymerase chain reaction for the detection and quantification of four putative periodontal pathogens: Porphyromonas gingivalis, Aggregatibacter actinomycetemcomitans, Treponema denticola and Tannerella forsythia. RESULTS: At the lowest detection threshold (>101 cells), P. gingivalis (p<0.0001) was more prevalent in AgP cases than controls. T. forsythia and T. denticola had a high prevalence (>70%) in AgP cases at all detection levels. While T. forsythia was significantly more frequently identified in AgP than in controls at all detection thresholds, this was only the case for T. denticola at the intermediate threshold (>102 cells). A. actinomycetemcomitans was identified less frequently than the other bacterial species with no difference in its prevalence between AgP cases and controls. CONCLUSION: The prevalence of the putative periodontal pathogens investigated varied considerably in Sudanese subjects with AgP and in periodontally healthy controls depending on the detection thresholds applied. T. forsythia was identified as having the strongest association with AgP.

Expression profiling of Sudanese visceral leishmaniasis patients pre- and post-treatment with sodium stibogluconate.

Visceral leishmaniasis (VL) in Sudan caused by Leishmania donovani is fatal in susceptible individuals if untreated. Treatment with sodium stibogluconate (SSG) leads to post-kala-azar dermal leishmaniasis (PKDL) in 58% of patients. Here, Affymetrix microarrays were used to identify genes differentially expressed in lymph nodes (N=9 paired samples) pre- and post-treatment with SSG. Using the Bioconductor package limma, 438 genes from 28 869 post-quality-control probe sets were differentially expressed (Pnominal ≤.02) post- vs pretreatment. Canonical pathway analysis using Ingenuity Pathway Analysis™ identified "role of nuclear factor of activated T-cell in regulation of immune response" (Pnominal =1.35×10-5 ; PBH-adjusted =4.79×10-3 ), "B-cell development" (Pnominal =2.04×10-4 ; PBH-adjusted =.024), "Fcγ receptor-mediated phagocytosis in macrophages and monocytes" (Pnominal =2.04×10-4 ; PBH-adjusted =.024) and "OX40 signalling" (Pnominal =2.82×10-4 ; PBH-adjusted =.025) as pathways differentially regulated post- vs pretreatment. Major network hub genes included TP53, FN1, MYC, BCL2, JUN, SYK, RUNX2, MMP1 and ACTA2. Top endogenous upstream regulators included IL-7 (P=2.28×10-6 ), TNF (P=4.26×10-6 ), Amyloid Precursor Protein (P=4.23×10-5 ) and SPI1/PI.1 (P=1.17×10-7 ). Top predicted chemical drug regulators included the flavonoid genistein (P=4.56×10-7 ) and the quinoline alkaloid camptothecin (P=5.14×10-5 ). These results contribute to our understanding of immunopathology associated with VL and response to SSG treatment. Further replication could identify novel therapeutic strategies that improve on SSG treatment and reduce the likelihood of progression to PKDL.

Acute intestinal schistosomiasis among school-aged children presented to King Abdullah Hospital, Bisha province, Saudi Arabia: A Case Series.

Acute intestinal schistosomiasis is one of the clinical manifestations of infection with S. mansoni fluke. School aged-children are most at risk for this infection. To present cases of acute intestinal schistosomiasis among school-aged children attending the pediatric unit at King Abdullah Hospital, Bisha province, southwest of Saudi Arabia. This was a retrospective case study of nine school aged-children who were diagnosed with intestinal schistosomiasis in 2015. Data regarding clinical presentation, development of infections, diagnosis and management were recorded. Direct microscopical examination of stool sample for detection of S. mansoni egg's had been applied as a diagnostic tool. Laboratory findings were obtained to assess the severity of the infection. Nine children (7 boys and 2 girls) having acute intestinal schistosomiasis were reviewed. The age of the children were between six to 13 years old [mean 8.8 ± 2.17 years (SD)]. The duration of signs and symptoms prior to admission ranged from three to 21 days [mean 9.0 ± 5.8 days (SD)]. Most of the patients (n=7) presented with fever associated with abdominal pain followed by vomiting and cough. Four patients have a family history of intestinal schistosomiasis. Children had history of water contact for playing and swimming purposes. Infected children were treated with praziquantel (PZQ) oral dose of 20 mg/kg every eight hours for a day. None of the children presented late complications of schistosomiasis after three months follow up. The existence of intestinal schistosomiasis among school aged-children in Bisha suburb is alarming. The severity of the clinical manifestations of acute intestinal schistosomiasis were non-specific and varied that need of high expectation of physicians to diagnosis such disease. Obtaining of patients travelling history to endemic areas and visiting of infested water resources are necessary for detection of schistosomiasis cases.

The 5q31 region in two African populations as a facet of natural selection by infectious diseases.

Cases of extreme natural selection could lead either to rapid fixation or extinction of alleles depending on the population structure and size. It may also manifest in excess of heterozygosity and the locus concerned will be displaying such drastic features of allele change. We suspect the 5q31 in chromosome 5 to mirror situation of such extreme natural selection particularly that the region encompasses genes of type 2 cytokine known to associate with a number of infectious and non-infectious diseases. We typed two sets of single nucleotide polymorphisms (SNPS) in two populations: an initial limited set of only 4 SNP within the genes of IL-4, IL-13, IL-5 and IL-9 in 108 unrelated individuals and a replicating set of 14 SN P in 924 individuals from the same populations with disregard to relatedness. The results suggest the 5q31 area to be under intense selective pressure as indicated by marked heterozygosity independent of Linkage Disequilibrium (LD); difference in heterozygosity, allele, and haplotype frequencies between generations and departure from Hardy-Weinberg expectations (DHWE). The study area is endemic for several infectious diseases including malaria and visceral leishmaniasis (VL). Malaria caused by Plasmodiumfalciparum, however, occurs mostly with mild clinical symptoms in all ages, which makes it unlikely to account for these indices. The strong selection signals seems to emanate from recent outbreaks of VL which affected both populations to varying extent.

Productivity and quality of sugar beet as affecting by sowing methods, weed control treatments and nitrogen fertilizer levels.

Two field experiments were carried out at Kafr El-Hamam Research Station, Zagazig district, Sharkia Governorate, Agricultural Research Center, Egypt, during 2008/2009 and 2009/2010 seasons to study the effect of sowing methods (manual and mechanical), weed control treatments (one hoeing, Goltix 70 WG (metamitron), Goltix+one hoeing and two hoeing) and nitrogen fertilizer levels (60, 80 and 100 kg N/fed) on yield, its components and quality of sugar beet cv. Hanrike. The obtained results could be summarized as follows; Mechanical sowing method of sugar beet significantly surpassed the traditional sowing method in root and foliage fresh weights/plant, root/top ratio, root length and diameter, root, top and sugar yields/fed in both seasons. Sowing methods showed significant effect on TSS, sucrose and purity percentages in both seasons, except purity% in the second season. Controlling weeds by two hand hoeings significantly recorded the highest values of root, top and sugar yields/fed and its components and purity percentage in both seasons. However, the highest percentages of TSS and sucrose were achieved from controlling weed by one hand hoeing in both seasons. Fertilizing sugar beet plants with 100 kg N/fed significantly increased yields and its components and markedly recorded the highest values in both seasons. From the obtained, it can be concluded that sowing sugar beet using mechanical sowing method (planter machine), controlling weeds by hand hoeing and mineral fertilizing with 100 kg N/fed could be recommended in order to maximize its productivity and quality under the environmental conditions of Sharkia Governorate, Egypt.

Leishmania mexicana: expression; characterization and activity assessment of E. coli-expressed recombinant CRK3.

OBJECTIVES AND METHODS: Previous studies have shown that CRK3 protein kinase of Leishmania mexicana is a potential drug target. Therefore, the aim of this study was to provide an active protein kinase for chemical inhibitors testing. A system was developed to express and affinity-purify recombinant L. mexicana CRK3 protein from Escherichia coli. RESULTS: Biochemical analysis has confirmed the expression of the pure kinase. The bacterial-expressed kinase was found to be inactive as a monomer. The mutated CRK3-E178 protein kinase was also found to be inactive. CONCLUSION: This study suggests that cyclin binding and phosphorylation status are both important for reconstituting protein kinase activity. Work presented by this paper has confirmed the usefulness of the prokaryotic system for production of pure homogenous recombinant protein kinase of Leishmania parasite, though this system is unable to produce active CRK3 protein kinase  

Increased multi-drug resistant Escherichia coli from hospitals in Khartoum state, Sudan.

BACKGROUND: Multidrug-resistant Escherichia coli (MDR E. coli) has become a major public health concern in Sudan and many countries, causing failure in treatment with consequent huge health burden. OBJECTIVES: To determine the prevalence and susceptibility of MDR E. coli isolated from patients in hospitals at Khartoum State. METHODS: Between May to August 2011, E. coli (n = 232) isolated from clinical specimens, identified, tested their antimicrobials susceptibility and screened for extend spectrum â-lactamase production as per standard methods. RESULTS: Of the 232 E. coli isolates, the majority were from urine (65.1%). MDR E. coli were present in 214 (92.2%). Of these, the resistance rates were recorded to: amoxicillin 97.7%, cefuroxime 92.5%, trimethoprim-sulfamethoxazole 88.3%, tetracycline 77.1%, nalidixic acid 72%, ceftriaxone 64%, ciprofloxacin 58.4%, ofloxacin 55.1%, amoxicillin-clavulanate 50.4%, ceftazidime, gentamicin 35% each, nitrofurantoin 22.4%, chloramphenicol, tobramicin 18.2% each and amikacin 1.9%. Overall MDR E. coli, 53.3% were resistant to > 7 antimicrobial agents and ESBL was detected in 32.7%. Isolates from males were more resistant than those from females (p < 0.05). CONCLUSIONS: Drug-resistance surveillance and epidemiological analysis of patient data is need periodically and can be informative for appropriate management of antimicrobial resistance.

Nasopharyngeal cancer in Sudan: epidemiology, clinical and histological characteristics.

OBJECTIVES: To study the epidemiology, clinical features, staging, etiology and pathology of nasopharyngeal cancer in Sudan. STUDY DESIGN: This is a retrospective study. SETTING: Ear, Nose and Throat Department Khartoum Teaching Hospital, Khartoum City, Sudan. SUBJECTS AND METHODS: Patients suspected to have nasopharyngeal cancer were assessed during the period March 2004 to May 2010. Data from confirmed cases was obtained; it included clinical and epidemiological information. RESULTS: Three hundred and eighty five cases were studied. Bimodal age distribution of the disease was noted with two peaks, one at 15-19 years and one at 50-54 years. The male to female ratio was 2.6:1 and a distinct geographical distribution of the disease was noted, with clustering of cases in the towns of Dilling, Kadogli and the surrounding rural area of the Nuba Mountains. These areas in the Western States were reported to be of high background radiation due to naturally produced radioactive uranium. The Nuba tribe headed the list among other tribes, demonstrating a clear ethnic predilection. Sixty-eight cases presented at stage IV. There was a predominance of Type II (15.58%) and Type III (65.97%). Patients were treated by neoadjuvant chemoradiotherapy. CONCLUSIONS: NPC is an important form of cancer in Sudan. Some tribes are significantly more affected than others. Patients present with advanced disease. Environmental and genetic factors need further studies. Screening at risk populations that aim at early diagnosis and management of patients is recommended.

Antimicrobial resistant bacteria among health care workers in intensive care units at Ain Shams University Hospitals.

Fifty HCWs in ICUs of Internal medicine, Chest, Neonatology and Burn were included in prospective cohort study. Collection of nasal, hand and rectal swabs, proper biochemical identification, culture media and antibiotic sensitivity tests were used to detect Methicillin-resistant Staphylococcus aureus (MRSA); vancomycin-resistant Enterococci (VRE) & extended spectrum beta-lactamase producing gram -ve bacilli (ESBLs). S. aureus was isolated from 34% of HCWs; 28% were nasal carriers, 4% were hand carriers and 2% had S. aureus at both sites. Nasal and hand carriage rates of MRSA were 20% & 4% respectively, with an overall rate of 22%. Gram -ve bacilli were isolated from 8% of HCWs hand swabs & showed Citrobacter koseri, Escherichia coli, Klebsiella pneumoniae and Pseudomonas aeruginosa. Hand carriage rate of ESBLs was 2%. Hand contamination with gram -ve bacilli and S. aureus was in 14% of HCWs. VRE carriage rate was 9.5%. ESBLs carriage rate in rectal swabs was 21.43%. K. pneumoniae was the most common ESBLs producing isolate (33.3%), followed by E. coli (18.75%). In combined disc method, aztreonam was the most sensitive (90%) in detecting ESBLs. Burn ICU had highest % of MRSA & ESBLs carriage. Neonatal ICU showed highest % of VRE carriage. An insignificant association was between infection control training or antimicrobial intake and carriage of antimicrobial resistant bacteria.

Leishmania donovani: genetic diversity of isolates from Sudan characterized by PCR-based RAPD.

Drug unresponsiveness in patients with visceral leishmaniasis (VL) is a problem in many endemic areas. This study aimed to determine genetic diversity of Leishmania donovani isolates from a VL endemic area in Sudan as a possible explanation for drug unresponsiveness in some patients. Thirty clinically stibogluconate (SSG)-sensitive isolates were made SSG-unresponsive in vitro by gradually increasing SSG concentrations. The sensitive isolates and their SSG-unresponsive counterparts were typed using mini-circle kDNA and categorized using PCR-RAPD. All the isolates were typed as L. donovani, the resulting PCR-RAPD characterization of the SSG-sensitive isolates gave three distinct primary genotypes while, the SSG-unresponsive isolates showed only a single band. L. donovani isolates from eastern Sudan are diverse; this probably resulted from emergence of new L. donovani strains during epidemics due to the pressure of widespread use of antimonials. In this communication the possible role of isolates diversity in antimonial unresponsiveness and the in vitro changing PCR-RAPD band pattern in SSG-unresponsive strains were discussed.

Interleukin 10 gene polymorphisms and development of post kala-azar dermal leishmaniasis in a selected sudanese population.

BACKGROUND: Post kala-azar dermal leishmaniasis (PKDL) is a cutaneous form of disease that develops at variable times after individuals have received treatment for clinical visceral leishmaniasis (VL). The study aimed to investigate the possible role of interleukin 10 (IL-10) and development of PKDL. METHODS: 77 families composed of 41 complete case-parent trios and 36 case-parent pairs from the Masalit ethnic group were genotyped for 3 IL10 promoter polymorphisms: -1082A/G, -819C/T and -592C/A. RESULTS: Single point analysis using the transmission disequilibrium test showed no evidence of association between any of these IL10 promoter single nucleotide polymorphisms (SNPs) and development of PKDL. Haplotype analysis performed using TRANSMIT showed borderline significance between PKDL and the haplotype AA across -592C/A and -1082A/G (p = 0.053). Haplotypes GCC (0.33) and ATA (0.30) were the common haplotypes in this Sudanese population. Allele frequencies for the 3 SNPs differed significantly in Sudan compared to other African (Gambian, Malawian, YRI) populations. CONCLUSION: There is no evidence for an association between 3 SNPs in the IL10 gene promoter and susceptibility to PKDL in the Masalit ethnic group in Sudan, although some evidence for haplotype association was observed.

Differential expression of cytokine genes among sickle-cell-trait (HbAS) and normal (HbAA) children infected with Plasmodium falciparum.

The human immune response to Plasmodium falciparum infection involves the release of cytokines that may contribute to the control of the parasites' replication. These cytokines are also involved in the pathogenesis of the malaria caused by the infection, leading to the appearance of symptoms of varying severity. In a cross-sectional study, the expression of the genes that code for pro-inflammatory cytokines (tumour necrosis factor, interferon-gamma, interleukin-6 and interleukin-12) and anti-inflammatory cytokines (interleukin-10 and interleukin-4) among 80 children infected with P. falciparum (from a malaria-endemic area of Sudan) and five healthy controls (from a non-endemic area) was explored. The infected children were either non-sicklers, with severe malaria (18 children), mild malaria (30) or no symptoms of malaria (18), or asymptomatic sicklers (14). Interleukin-12 was found to be weakly expressed by all the groups of children. In general, compared with the other groups, the asymptomatic non-sicklers had lower expression of all the cytokines studied. The asymptomatic sicklers had significantly lower expression of tumour necrosis factor than the non-sicklers with severe malaria, but these two groups showed similar expression of interferon-gamma, interleukin-4 and interleukin-6. Gene expression of the regulatory cytokine, interleukin-10, by the asymptomatic sicklers was significantly lower than that by the non-sicklers with severe malaria but higher than that recorded in the non-sicklers with mild malaria. Their regulation of cytokine release appears to protect sicklers from clinical malaria.

Genetics and visceral leishmaniasis: of mice and man.

Ninety per cent of the 500,000 annual new cases of visceral leishmaniasis (VL) occur in India/Bangladesh/Nepal, Sudan and Brazil. Importantly, 80-90% of human infections are sub-clinical or asymptomatic, usually associated with strong cell-mediated immunity. Understanding the environmental and genetic risk factors that determine why two people with the same exposure to infection differ in susceptibility could provide important leads for improved therapies. Recent research using candidate gene association analysis and genome-wide linkage studies (GWLS) in collections of families from Sudan, Brazil and India have identified a number of genes/regions related both to environmental risk factors (e.g. iron), as well as genes that determine type 1 vs. type 2 cellular immune responses. However, until now all of the allelic association studies carried out have been underpowered to find genes of small effect sizes (odds ratios or OR < 2), and GWLS using multicase pedigrees have only been powered to find single major genes, or at best oligogenic control. The accumulation of large DNA banks from India and Brazil now makes it possible to undertake genome-wide association studies (GWAS), which are ongoing as part of phase 2 of the Wellcome Trust Case Control Consortium. Data from this analysis should seed research into novel genes and mechanisms that influence susceptibility to VL.

Naltrexone treatment in clomiphene resistant women with polycystic ovary syndrome.

BACKGROUND: Endogenous opiates may affect various aspects of reproductive and metabolic function in patients with polycystic ovary syndrome (PCOS). This study evaluated long-term inhibition of the opioid system using naltrexone in clomiphene citrate (CC)-resistant women with PCOS. METHODS: A group of 30 infertile females with PCOS were evaluated; all subjects were obese, hyperandrogenic and hyperinsulinemic; 16 patients were amenorrhic and 14 were oligomenorrhic. All subjects received natrexone (50 mg p.o. daily) for 6 months. Patients who did not ovulate after 12 weeks of naltrexone monotherapy, also received CC (starting at 50 mg/day for 5 days and, for non-responders, increasing it up to 150 mg/day). RESULTS: Of the 30 women, 3 ovulated during naltrexone monotherapy and 19 of the remaining 27 ovulated during naltrexone + CC therapy. There were no conceptions during naltrexone monotherapy, but 9 of 27 women (33.3%) conceived during naltrexone + CC; there was one missed abortion at 9 weeks, one preterm delivery at 34 weeks and seven term live births. Naltrexone therapy was also followed by significant reductions in BMI, fasting serum insulin, luteinizing hormone (LH), LH/follicle-stimulating hormone ratio and testosterone. CONCLUSIONS: In this preliminary trial, naltrexone improved endocrine and metabolic function in women with CC-resistant PCOS. Furthermore, naltrexone restored CC sensitivity in the majority of subjects, resulting in a significant number of pregnancies.

IFNG and IFNGR1 gene polymorphisms and susceptibility to post-kala-azar dermal leishmaniasis in Sudan.

Post-kala-azar dermal leishmanaisis (PKDL) in Sudan is associated with elevated interferon-gamma (IFN-gamma). To study interferon-gamma pathways in PKDL, we genotyped 80 trios from the Masalit ethnic group for polymorphisms at -470 ins/delTT, -270T/C, -56T/C and +95T/C in IFNGR1 and at -179G/A and +874T/A in IFNG. No associations occurred at IFNG. Global association with haplotypes comprising all four markers at IFNGR1 (chi(2)(10df)=21.97, P=0.015) was observed, associated with a significant (chi(2)(1df)=4.54, P=0.033) bias in transmission of the haplotype insTT T T T and less (chi(2)(1df)=5.59, P=0.018) than expected transmission of insTT C C C. When compared with data on malaria associations from Gambia, the results suggest a complex pattern of haplotypic variation at the IFNGR1 promoter locus associated with different infectious disease in African populations that reflect the complex roles of IFN-gamma in parasite killing versus inflammation and pathogenesis.

A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia.

BACKGROUND: SRY (sex-determining region, Y) is the gene responsible of gonadal differentiation in the male and it is essential for the regular development of male genitalia. Translocations involving the human sex chromosomes are rarely reported, however here we are reporting a very rare translocation of SRY gene to the q -arm of a deleted X chromosome. This finding was confirmed by cytogenetic, fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR). CASE PRESENTATION: A 7-month infant was clinically diagnosed as an intersex case, with a phallus, labia majora and minora, a blind vagina and a male urethra. Neither uterus nor testes was detected by Ultrasonography. G-banding of his chromosomes showed 46,X,del(X)(p11) and fluorescent in situ hybridization (FISH) analysis showed a very small piece from the Y chromosome translocated to the q-arm of the del(X). Polymerase chain reaction (PCR) analysis revealed the presence of material from the sex-determining region Y (SRY) gene. CONCLUSION: It is suggested that the phenotype of the patient was caused by activation of the deleted X chromosome with SRY translocation, which is responsible for gonadal differentiation.