Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A

Haemophilia A is an X-linked bleeding disorder caused by reduced or absent FVIII (FVIII) protein caused by mutations in the FVIII gene. We have used Southern blotting and chemical mismatch analysis (CMA) to identify the mutations causing haemophilia A in 59 local or referred patients or carriers of haemophilia A. Southern blot analysis of 87 families with FVIII : C < 5% identified 31 as positive for the intron 22 inversion. Analysis of 19 of the inversion-negative families and a further nine families with mild or moderate haemophilia A by CMA resulted in the identification of a heterogeneous spectrum of mutations in the FVIII gene comprising 21 single base-pair substitutions and nine deletions. Seventeen of the base-pair substitutions are missense, two nonsense, and two are splice-site mutations. Two patients were found to have compound mutations with two mutations identified on a single X chromosome. Six of the point mutations and six of the deletions have not been reported previously in the haemophilia A mutation database. Unusually, a missense mutation, as well as deletion and splice-site mutations, was found to be associated with exon-skipping events.     

Evaluation of Blood Transfusions in Anemic Children in Effia Nkwanta Regional Hospital,Sekondi-Takoradi,Ghana

Blood transfusion is a common practice in sub-Saharan Africa as a way of correcting anemia in children with mild and severe sicknesses. This study evaluated this practice in a secondary health-care institution in Ghana. A retrospective study was done over a 3-year period from January 2010 to December 2012. Medical records of children admitted, successfully treated, and discharged from the hospital were collected and analyzed. Data were analyzed using Epi Info version 7. Transfusions were more among male children (89, 63.1%) than female children (52, 36.9%). The highest number of blood transfusions were carried out on children in the age range 0–1 year (66, 46.8%). The majority of the blood transfusions were done on children with hemoglobin concentration level of 5 g/dL and below. Children with malaria parasitemia (83, 58.9%) had more transfusions than children without malaria parasitemia (58, 41.1%). Fever alone (43, 30.5%) and fever with gastrointestinal symptoms (33, 23.4%) were the predominant symptoms among children who had blood transfusions. In conclusion, younger children received more transfusions than older children. Also, male children received more blood transfusions than female children. Malaria was observed as a major contributory factor to the requirement for blood transfusions among the children.     

Antihyperglycaemic and Antioxidant Effects of Adenia Lobata engl. (Passifloraceae) in Streptozotocin-Induced Diabetic Rats

The antihyperglycaemic and antioxidant activities of a Ghanaian medicinal plant namely Adenia lobata Engl (Passifloraceae), used to treat diabetes mellitus in traditional medicine, was investigated. The dried stem powder of A. lobata was successively extracted by Soxhlet with petroleum ether and 70% ethanol to obtain the crude petroleum ether (PEAL: yield =1.1w/w %) and ethanol (EEAL: yield = 5.4 w/w %) extracts. The extracts were assessed for their antihyperglycaemic and antioxidant activities. The antihyperglycaemic activity of PEAL and EEAL were determined in streptozotocin-induced diabetic rats (70 mg/kg body weight). Five groups of diabetic rats were given 150, 300 and 600 mg/kg body weight of PEAL and EEAL orally once daily for 20 days. Glibenclamide (5 mg/kg body weight) was used as positive control while distilled water (5 ml) acted as the normal diabetic control. The blood glucose levels were monitored initially for 6 hours and subsequently over 24 days. Both extracts exhibited statistically significant (p< 0.001) antihyperglycaemic activity throughout the study period, with EEAL showing the greatest activity. The antioxidant properties of the petroleum ether and ethanol extracts of A. lobata (PEAL and EEAL) were evaluated using five assays; total phenolic content, total antioxidant capacity, reducing power, DPPH scavenging effect and lipid peroxidation activity. In all these assays, the antioxidant properties increased with increasing concentration of the extracts.     

GS05SINGLE SURGEON EXPERIENCE WITH RETROMUSCULAR (PREPERITONEAL) MESH REPAIR OF INCISIONAL AND VENTRAL HERNIAS

Objective Repair of incisional (and large ventral) abdominal hernias pose a challenge for many surgeons. Numerous techniques have been described. This series reports a single surgeon’s experience using the retromuscular (pre‐peritoneal) mesh repair technique. Method Data was collected on 70 consecutive incisional (n = 23) and ventral (n = 47) hernia repairs using retromuscular (pre‐peritoneal) lightweight polypropylene mesh. Results The median follow‐up was 26 months (range 10 – 66 months). Overall recurrence rate was 1.4%. There were seven major (10%) and four minor (7%) post‐operative infections. One patient developed post‐operative seroma requiring percutaneous aspiration, and one patient had chronic pain. Conclusion Retromuscular mesh repair is a good alternative to traditional onlay mesh repairs. Morbidity and outcomes are acceptable and comparable with literature, with lower rates of seroma formation and hernia recurrence.     

Isolated dextrocardia with bilateral undescended testis and bilateral polydactyl of the hands and feet: a case report

The incidence of dextrocardia with or without situs inversus is rare though the true incidence in Nigeria is not known. Plain films are the preliminary investigations of choice in diagnosis of situs anomalies. The aim of this case report is to emphasise the importance of recognition of the spectrum of situs anomalies, because the altered anatomy associated with these anomalies may result in confusing imaging findings, misdiagnosis and difficulties with treatment when seen in conjunction with acquired abnormalities of the chest and abdomen. This study also aim to emphasise the need for accurate placement of radiographic markers by the radiographers before exposure of the films as the key for identification of situs anomalies. The case of dextrocardia without situs inversus diagnosed in a 4-month old baby boy who also had bilateral undescended testis and bilateral polydactyl of hands and feet is presented. The imaging modalities for assessment of situs anomalies are discussed.     

Review article: Paediatric status epilepticus in the pre‐hospital setting: An update

Paediatric status epilepticus (SE) is a medical emergency and a common critical condition confronting pre‐hospital providers. Management in the pre‐hospital environment is challenging but considered extremely important as a potentially modifiable factor on outcome. Recent data from multicentre clinical trials, quality observational studies and consensus documents have influenced management in this area, and is important to both pre‐hospital providers and emergency physicians. The objective of this review was to: (i) present an overview of the available evidence relevant to pre‐hospital care of paediatric SE; and (ii) assess the current pre‐hospital practice guidelines in Australia and New Zealand. The review outlines current definitions and guidelines of SE management, regional variability in pre‐hospital protocols within Australasia and aspects of pre‐hospital care that could potentially be improved. Contemporary data is required to determine current practice in our setting. It is important that paediatric neurologists, emergency physicians and pre‐hospital care providers are all engaged in future endeavours to improve clinical care and knowledge translation efforts for this patient group.