ABSTRACT
We report an African infant with Ellis-van Creveld (EVC) syndrome. EVC syndrome is a chondral and ectodermal dysplasia with autosomal recessive transmission. The baby presented with polydactyly, short limbs and atrioventricular septal defect, but was withdrawn from clinical follow up for the first year of life. Initial hematological abnormalities could not be explained and normalized later. EVC syndrome was confirmed by genetic analysis that showed two pathogenic mutations in the EVC2 gene, c.653_654del, p.Val218Glyfs*12 in exon 5, and c.2710C>T, p.Gln904* in exon 16. The variant c.653_654del; p.Val218Glyfs*12 in exon 5 has not been described before. Our review of medical literature suggested this is the first molecularly confirmed case of EVC syndrome in sub-Saharan Africa.
Subject(s)
Ellis-Van Creveld Syndrome/genetics , Ellis-Van Creveld Syndrome/diagnosis , Hand/diagnostic imaging , Humans , Infant , Male , Polydactyly/diagnostic imaging , Tanzania , Tibia/diagnostic imagingABSTRACT
Traumatic anterior shoulder dislocation is a very common injury encountered in emergency rooms as well as in the primary health care physician's office. This injury occurs either in the setting of competitive or recreational sports injuries or as a high-energy injury during a fall or a road traffic accident. Common complications such as a recurrent dislocation can be predicted, monitored and prevented. Early appropriate treatment of associated cuff tears or fractures is associated with improved outcomes. There is a plethora of literature on the assessment and management of the primary anterior shoulder dislocation in specialised fields such as sports medicine, orthopaedic surgery and shoulder surgery. These studies are often highly technical, addressed to a particular subset of readers and often deal with one aspect of the management of the injury. This narrative aims to provide the reader with a simplified, evidence-based assessment and management approach for the first-time acute anterior shoulder dislocation. Emphasis is on closed reduction techniques, position and duration of immobilisation, and return to activities of life or sports. Risk factors for recurrence and other indications for primary referral to the orthopaedic surgeon are discussed. Other forms of shoulder instability such as posterior shoulder dislocation, inferior dislocation and multidirectional instability will not be the focus of this narrative.
Subject(s)
Joint Instability , Physicians , Shoulder Dislocation , Shoulder Joint , Humans , Shoulder Dislocation/diagnosis , Shoulder Dislocation/etiology , Shoulder Dislocation/therapy , Shoulder , Shoulder Joint/surgery , Joint Instability/complications , Joint Instability/surgery , Primary Health CareABSTRACT
STUDY DESIGN: Prospective Study. OBJECTIVES: To describe a unique site-specific injury mechanism for spinal cord injury: incidents involving ox-carts. SETTING: Main referral hospital for North-eastern Tanzania. METHODS: A prospective cohort study on Spinal Cord Injury (SCI) in a tertiary referral center in North-eastern Tanzania was examined for accidents related to the use of ox-carts, a major means of transport in a rugged rural area where the economy is largely based on agricultural practices. RESULTS: Five out of a total of 163 individuals admitted with SCI were injured in incidents directly related to the use of ox-carts. On admission each of the five individuals had different neurological level and corresponding injury severity as follows; C4 (American Spinal Injury Association Impairment Scale) AIS A), C5 (AIS D), C7 (AIS C), T1 (AIS C) and L1 (AIS D). Two out of the five patients developed secondary complications during their hospital stay. CONCLUSION: The nature of these injuries highlights the influence of one's environment and social circumstances on the risk of sustaining a SCI. Such cases also serve to illustrate the need for tailored prevention, rehabilitation, and reintegration into society.