Biological resurfacing of the knee: a review of surgical management

Lesions of the articular surfaces of the knee have been managed by various techniques over the last 50 years. Surgical management has involved: excising the damaged area, refashioning the underlying bone to produce a fibrous response, and introducing allograft, autograft and synthetic materials to encourage a repair matrix. The techniques and their pitfalls are reviewed and discussed, and suggestions made as to the direction of future studies for the repair of osteochondral lesions in the painful knee.     

Hypofibrinogenaemia with compound heterozygosity for two gamma chain mutations - gamma 82 Ala-->Gly and an intron two GT-->AT splice site mutation

We investigated the molecular basis of hypofibrinogenaemia in a woman with a history of recurrent, pregnancy-associated bleeding, and miscarriage. She had a Clauss fibrinogen of 0.9 mg/ml and SDS PAGE of purified fibrinogen showed a normal pattern of chains. However careful inspection of reverse phase chain separation profiles showed apparent homozygosity for a more hydrophilic form of the gamma chain. DNA Sequencing showed only heterozygosity for a CGT-->GGT (Ala-->Gly) mutation at codon gamma82, but further sequencing showed an additional GT splice sequence mutation at the 5' end of intron 2 of the gamma gene. Translation of mRNA containing this intron would result in premature truncation explaining the phenotypic homozygosity of the gamma82 Ala-->Gly substitution. The patient's sister had a mild bleeding disorder with hypofibrinogenaemia and she too was a compound heterozygote for the y mutations. Her nephew had only the novel splice site mutation, while her mother and daughter inherited only the gamma82 Ala-->Gly substitution.     

Isolated ACL versus multiple knee ligament injury: associations with patient characteristics,cartilage status,and meniscal tears identified during ACL reconstruction

Objectives: The objectives of this study were to determine (1) if patients undergoing reconstruction of an isolated anterior cruciate ligament (ACL) tear had different characteristics (age, gender, body mass index [BMI]) than patients undergoing ACL reconstruction (ACLR) with multiple knee ligament (MKL) tears and (2) whether there was a difference in prevalence of articular cartilage injury and meniscus tears between these two groups.

Methods: Patients undergoing primary ACLR between February 2005 and June 2013 were identified through an ACLR registry. Patients were grouped by whether they had an isolated ACL tear or an ACL tear associated with another knee ligament tear. The study cohort was analyzed to identify differences in patient characteristics and cartilage/meniscus injury patterns between the groups.

Results: Of the 21,377 ACLR cases enrolled in the registry during the study period, 2.5% (n = 549) had MKL tears. The MKL group had more males (73.2% vs. 62.8%, p < 0.001) than the isolated ACL group. The MKL group also had a higher percentage of patients with a BMI greater than 30 (31.1% vs. 22.7%, p = 0.0002). When adjusting for these variables, any articular cartilage injury was equal in the two groups (OR = 1.01, CI 0.82–1.25, p = 0.922), while medial femoral condyle injury was less common in the MKL group (OR = 0.73, CI = 0.56–0.07, p = 0.28). The likelihood of any meniscus tear was lower in the MKL group (OR = 0.56, CI = 0.47–0.67, p < 0.001) as was the likelihood of medial meniscus tears (OR = 0.53, CI = 0.44–0.65, p < 0.001).

Conclusions: When comparing patients with MKL tears versus isolated ACL tears at ACLR, there was a higher percentage of males and patients with BMI over 30 in the MKL group. Medial femoral condyle articular cartilage injury, any meniscus tear, and medial meniscus tears were less common in patients with MKL injury compared to patients with isolated ACL tears.     

Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular,brain, ear,palate, and skeletal anomalies

Bone morphogenetic protein (BMP) signaling regulates a range of cellular processes and plays an important role in the specification and patterning of the early embryo. However, due to the functional redundancy of BMP ligands and receptors in tissues where they are coexpressed, relatively little is known about the role of individual BMP ligands in human disease. Here we report heterozygous variations in BMP7, including a frameshift, missense, and Kozak sequence mutation, in individuals with developmental eye anomalies and a range of systemic abnormalities, including developmental delay, deafness, scoliosis, and cleft palate. We determined that BMP7 is expressed in the developing eye, brain, and ear in human embryos in a manner consistent with the phenotype seen in our mutation cases. These data establish BMP7 as an important gene in human eye development, and suggest that BMP7 should be considered during clinical evaluation of individuals with developmental eye anomalies. Hum Mutat 31:1–7, 2010. © 2010 Wiley‐Liss, Inc.     

Effect of mild hepatic or renal impairment on maternal serum screening biochemical measures

BackgroundIntegrated maternal serum screening (MSS) is commonly used to screen for fetal trisomies and neural tube defects in early pregnancy. The kidney and liver each play an important role in hormone metabolism, and anecdotal data suggest that MSS biochemical measures may vary with a mother’s health status. We examined the correlations between kidney and liver function parameters and MSS markers and the possible association of mild renal or hepatic impairment with MSS measures.MethodsWe completed a prospective cross-sectional study of 257 consecutive women who underwent integrated MSS at a single hospital Serum analytes (pregnancy associated plasma protein A [PAPP-A], hCG, creatinine [Cr], and alanine aminotransferase [ALT]) were drawn at approximately 12 weeks’ gestation, and alpha-fetoprotein and unconjugated estriol were drawn at 16 weeks’ gestation Creatinine clearance was calculated using the Cockcroft-Gault formula Abnormally elevated serum Cr and ALT were each defined as ≥ 90th percentile among all women. A low creatinine clearance (CrCl) was set at ≤ 10th percentile.ResultsSerum hCG, PAPP-A, and alpha-fetoprotein were negatively correlated with CrCl, but not after correction for maternal age, weight, and ethnicity. No association between MSS and serum ALT was observed The median serum concentrations of both PAPP-A (P = 0.04) and alpha-fetoprotein (P = 0.02) were significantly higher among those whose CrCl was ≤ 10th percentile. At the more extreme concentrations of PAPP-A and alpha-fetoprotein, no significant association with a low CrCl or an elevated serum ALT was seen.ConclusionsAmong a group of apparently healthy pregnant women, mild renal or hepatic impairment had little or no significant correlation with individual MSS markers. Further work should focus on the effect of more severe renal or hepatic dysfunction on MSS measures.     

Scintigraphic pattern in missed testicular torsion

The testicular scintigraphic findings of nine patients with surgically and pathologically proved torsion of the testis of over 24 hours duration are reviewed. In the delayed blood-pool images each showed the classical avascular twisted testicle with a variable peripheral rim of hyperemia. In the dynamic blood-flow phase, eight revealed a perceptible increase of vascular perfusion in the scrotal region on the affected side, in addition to the testicular radionuclide angiogram peculiarities previously described for missed testicular torsion. This pattern of perfusion was seen only in torsion of over one day duration. A low salvage probability is expected in these cases.     

Orthotopic liver transplantation for acute liver failure secondary to autoimmune hepatitis in a child with autoimmune polyglandular syndrome type 1

Autoimmune polyglandular syndrome type 1 (APS-1) is an autosomal-recessive condition characterized by hypoparathyroidism, autoimmune Addison's disease, and chronic mucocutaneous candidiasis. Autoimmune hepatitis develops in 10-20% of affected patients and has a variable course ranging from asymptomatic chronic liver disease to lethal fulminant hepatic failure. Liver transplantation has been documented previously in only two patients. We report a 14-yr-old boy with APS-1 who developed acute liver failure secondary to associated autoimmune hepatitis. He did not respond to corticosteroid therapy and was successfully treated with an orthotopic liver transplant.     

Healthy & Active Communities Initiative: A foundation's response to the obesity epidemic

Missouri has the 12th highest rate of adult obesity and the 15th highest rate of overweight and obese youth in the United States. In response, Missouri Foundation for Health has implemented the Healthy and Active Communities Initiative (H&AC). Methods applied through H&AC include grantmaking, evaluation support, dissemination technical assistance, policy assessment, and development of local, regional, and statewide collaborations to increase access to physical activity and nutrition through environmental, policy and behavior change. Results to date demonstrate more than 49 counties in the state have been impacted through 79 grantee projects. Nearly half (45%) of these grantees have achieved more than their original goals and 60% of grantees can sustain at least half of their program activities post award. Fifty percent of grantees have helped to change the way the community works on public issues. Through the H&AC Initiative, Missouri Foundation for Health serves as a model for how a foundation can assist in efforts to mitigate and prevent rising rates of obesity.