Comparison between oxytocin, ergometrine and misoprostol in active management of the third stage of labour: a randomized controlled trial

Background: The aim of the present study was to compare the effectiveness of sublingual misoprostol, intravenous infusion of oxytocin, and intravenous infusion of Ergometrine in reducing blood loss during the third stage of labor.Methods: This is a no-random trial study conducted in in Ribat University Hospital, Khartoum among 150 laboring ladies with a healthy singleton pregnancy. After obtaining their written informed consent to participate in the study, they were randomly assigned to one of three possible treatment groups: 400 μg of sublingual misoprostol; 10 IU of intravenous infusion oxytocin; and 0.5 mg of intravenous infusion of Ergometrine. Blood loss was estimated by weighing the collected blood and converting the weight to milliliters.Results: The shortest mean duration of the third stage of labor was seen in patients who received misoprostol (3.89±0.37 min), followed by oxytocin (4.6±0.9 min), and Ergometrine (5.45±0.9 min). The lowest mean blood loss was seen in the patients who received 400 µg misoprostol (168.36±24.83 ml), followed by those who received 10 IU oxytocin (205.56±34.82 ml), and 0.5 mg Ergometrine (214.49±35.97 ml).Conclusions: Present study showed that 400 µg sublingual misoprostol was more effective than the conventional parenteral uterotonics in reducing the amount of the blood loss during the third stage of labor and has comparable effect to that of 10 IU intravenous oxytocin in shortening the duration of third stage of labor. It also showed that the use of misoprostol reduces the need for extra-uterotonics and blood transfusion

Comparison between oxytocin, ergometrine and misoprostol in active management of the third stage of labour: a randomized controlled trial

Background: The aim of the present study was to compare the effectiveness of sublingual misoprostol, intravenous infusion of oxytocin, and intravenous infusion of Ergometrine in reducing blood loss during the third stage of labor.Methods: This is a no-random trial study conducted in in Ribat University Hospital, Khartoum among 150 laboring ladies with a healthy singleton pregnancy. After obtaining their written informed consent to participate in the study, they were randomly assigned to one of three possible treatment groups: 400 μg of sublingual misoprostol; 10 IU of intravenous infusion oxytocin; and 0.5 mg of intravenous infusion of Ergometrine. Blood loss was estimated by weighing the collected blood and converting the weight to milliliters.Results: The shortest mean duration of the third stage of labor was seen in patients who received misoprostol (3.89±0.37 min), followed by oxytocin (4.6±0.9 min), and Ergometrine (5.45±0.9 min). The lowest mean blood loss was seen in the patients who received 400 µg misoprostol (168.36±24.83 ml), followed by those who received 10 IU oxytocin (205.56±34.82 ml), and 0.5 mg Ergometrine (214.49±35.97 ml).Conclusions: Present study showed that 400 µg sublingual misoprostol was more effective than the conventional parenteral uterotonics in reducing the amount of the blood loss during the third stage of labor and has comparable effect to that of 10 IU intravenous oxytocin in shortening the duration of third stage of labor. It also showed that the use of misoprostol reduces the need for extra-uterotonics and blood transfusion

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report

International audienceBackground: CCDC88C is a ubiquitously expressed protein with multiple functions, including roles in cell polarity and the development of dendrites in the nervous system. Bi-allelic mutations in the CCDC88C gene cause autosomal recessive congenital hydrocephalus (OMIM #236600). Studies recently linked heterozygous mutations in CCDC88C to the development of the late-onset spinocerebellar ataxia type 40 (OMIM #616053).Case presentation: A 48-year-old Sudanese female presented with pure early onset hereditary spastic paraplegia. Exome sequencing, in-silico analysis, and Sanger sequencing identified the heterozygous NM_001080414.4:c.1993G > A (p.E665K) variant in CCDC88C as a potential cause of her illness. To explore the pathogenicity of the NM_001080414.4:c.1993G > A (p.E665K) variant, we expressed it in human embryonic kidney 293 cells and assessed its effects on apoptosis. In our experiment, NM_001080414.4:c.1993G > A (p.E665K) induced JNK hyper-phosphorylation and enhanced apoptosis. In contrast to previous reports, our patient developed neurological symptoms in early childhood and showed neither features of cerebellar ataxia, extrapyramidal signs, nor evidence of intellectual involvement.Conclusion: We, herein, heighlighted the possibility of extending the phenotype associated with variants in CCDC88C to include early-onset pure hereditary spastic paraplegia

Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

International audienceBackground: Arginases catalyze the last step in the urea cycle. Hyperargininemia, a rare autosomal-recessive disorder of the urea cycle, presents after the first year of age with regression of milestones and evolves gradually into progressive spastic quadriplegia and cognitive dysfunction. Genetic studies reported various mutations in the ARG1 gene that resulted in hyperargininemia due to a complete or partial loss of arginase activity. Case Presentation: Five patients from an extended highly consanguineous Sudanese family presented with regression of the acquired milestones, spastic quadriplegia, and mental retardation. The disease onset ranged from 1 to 3 years of age. Two patients had epileptic seizures and one patient had stereotypic clapping. Genetic testing using whole-exome sequencing, done for the patients and a healthy parent, confirmed the presence of a homozygous novel missense variant in the ARG1 gene [GRCh37 (NM_001244438.1): exon 4: g.131902487T>A, c.458T>A, p.(Val153Glu)]. The variant was predicted pathogenic by five algorithms and affected a highly conserved amino acid located in the protein domain ureohydrolase, arginase subgroup. Sanger sequencing of 13 sampled family members revealed complete co-segregation between the variant and the disease distribution in the family in line with an autosomal-recessive mode of inheritance. Biochemical analysis confirmed hyperargininemia in five patients. Conclusion: This study reports the first Sudanese family with ARG1 mutation. The reported variant is a loss-of-function missense mutation. Its pathogenicity is strongly supported by the clinical phenotype, the computational functional impact prediction, the complete co-segregation with the disease, and the biochemical assessment

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

International audienceIntroduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than 80 disorders which share lower limb spasticity as a common feature. Abnormalities in multiple cellular processes are implicated in their pathogenesis, including lipid metabolism; but still 40% of the patients are undiagnosed. Our goal was to identify the disease-causing variants in Sudanese families excluded for known genetic causes and describe a novel clinico-genetic entity.Methods: We studied four patients from two unrelated consanguineous Sudanese families who manifested a neurological phenotype characterized by spasticity, psychomotor developmental delay and/or regression, and intellectual impairment. We applied next-generation sequencing, bioinformatics analysis, and Sanger sequencing to identify the genetic culprit. We then explored the consequences of the identified variants in patients-derived fibroblasts using targeted-lipidomics strategies.Results and Discussion: Two homozygous variants in ABHD16A segregated with the disease in the two studied families. ABHD16A encodes the main brain phosphatidylserine hydrolase. In vitro, we confirmed that ABHD16A loss of function reduces the levels of certain long-chain lysophosphatidylserine species while increases the levels of multiple phosphatidylserine species in patient's fibroblasts.Conclusion: ABHD16A loss of function is implicated in the pathogenesis of a novel form of complex hereditary spastic paraplegia

Parkinsonism Relat Disord

Background: Several studies suggested a significant role of epigenetic changes, including alterations in miRNA, histone modifications, and DNA methylation of α-synuclein (SNCA) in Parkinson’s disease (PD) pathogenicity. As of yet, only very few studies have been carried out in this field in Africa and none in Sudan. Materials and methods: We collected DNA from 172 Sudanese individuals (90 cases, 82 controls) who donated saliva for DNA extraction (mean age of onset: 40.6 ± 22.4 years). A family history of PD was evident in 64 patients. DNA preparation and bisulfite sequencing of SNCAintron1 was performed as described earlier. Results: Of the fourteen analyzed CpGs of SNCAintron1, CpGs 16-23 were hypomethylated in PD (P-value ranged from 0.023 to 0.003). P–values improved, when sporadic cases were excluded from the analysis. Conclusion: We identified the presence of a specific pattern of DNA methylation in a young Sudanese cohort of familial PD, which confirms the importance of the methylation of SNCAintron1 for PD. This phenomenon appears to be independent of ethnicity, the impact of environmental factors, drug history, or familial clustering