Background Interstitial and cornual ectopic pregnancy is rare, accounting for 2-4% of ectopic pregnancies and remains the most difficult type of ectopic pregnancy to diagnose due to low sensitivity and specificity of symptoms and imaging. The classic triad of ectopic pregnancy-abdominal pain, amenorrhea and vaginal bleeding-occurs in less than 40% of patients. The site of implantation in the intrauterine portion of fallopian tube and invasion through the uterine wall make this pregnancy difficult to differentiate from an intrauterine pregnancy on ultrasound. The high mortality in this type of pregnancy is partially due to delay in diagnosis as well as the speed of hemorrhage. Methods Three cases of interstitial pregnancy were retrospectively analyzed. Result Successful laparoscopic cornuostomy and removal of products of conception were performed in two cases, while one case was successfully managed by local injection with KCL and methotrexate followed by systemic methotrexate. Conclusion Early diagnosis and timely management are key to the management of interstitial and cornual ectopic pregnancy. With expertise in ultrasound imaging and advances in laparoscopic skills progressively, conservative
Aims Trochlear dysplasia is a significant risk factor for patellofemoral instability. The Dejour classification is currently considered the standard for classifying trochlear dysplasia, but numerous studies have reported poor reliability on both plain radiography and MRI. The severity of trochlear dysplasia is important to establish in order to guide surgical management. We have developed an MRI-specific classification system to assess the severity of trochlear dysplasia, the Oswestry-Bristol Classification (OBC). This is a four-part classification system comprising normal, mild, moderate, and severe to represent a normal, shallow, flat, and convex trochlear, respectively. The purpose of this study was to assess the inter- and intraobserver reliability of the OBC and compare it with that of the Dejour classification. Methods Four observers (two senior and two junior orthopaedic surgeons) independently assessed 32 CT and axial MRI scans for trochlear dysplasia and classified each according to the OBC and the Dejour classification systems. Assessments were repeated following a four-week interval. The inter- and intraobserver agreement was determined by using Fleiss’ generalization of Cohen’s kappa statistic and S-statistic nominal and linear weights. Results The OBC showed fair-to-good interobserver agreement and good-to-excellent intraobserver agreement (mean kappa 0.68). The Dejour classification showed poor interobserver agreement and fair-to-good intraobserver agreement (mean kappa 0.52) Conclusion The OBC can be used to assess the severity of trochlear dysplasia. It can be applied in clinical practice to simplify and standardize surgical decision-making in patients with recurrent patella instability. Cite this article: Bone Joint J 2020;102-B(1):102–107
Congenital disorders of glycosylation (CDG) are an extremely rapidly growing and phenotypically versatile group of disorders. Conserved oligomeric Golgi (COG) complexes are hetero-octameric proteins involved in retrograde trafficking within the Golgi. Seven of its eight subunits have a causal role in CDG. To date, only three cases of COG8-CDG have been published but none in the antenatal period. We present the first case of antenatally diagnosed COG8-CDG with facial dysmorphism and additional features such as Dandy-Walker malformation and arthrogryposis multiplex congenita, thus expanding the phenotype of this rare disorder. Trio whole exome sequencing revealed a novel homozygous variant in COG8, which creates a new splice site in exon 5 and protein truncation after 12 amino acids downstream to the newly generated splice site. As the mutations of the previous three patients were also identified in exon 5, it is likely to be a potential mutational hotspot in COG8. An association between antenatally increased nuchal translucency and COG8-CDG is also established, which would alert clinicians to its diagnosis early in gestation.It remains to be seen if this observation can be extended to other COG-CDGs.
K E Y W O R D Santenatal presentation, arthrogryposis multiplex congenita, COG8-CDG, Dandy-Walker malformation, increased NT, mutational hotspot
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