Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome

Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are developmental disorders characterized by a spectrum of phenotypes including velopharyngeal insufficiency, conotruncal heart defects and facial dysmorphology among others. Eighty to eighty-five percent of VCFS/DGS patients are hemizygous for a portion of chromosome 22. It is likely that the genes encoded by this region play a role in the etiology of the phenotypes associated with the disorders. Using a cDNA selection protocol, we isolated a novel clathrin heavy chain cDNA (CLTD) from the VCFS/DGS minimally deleted interval. The cDNA encodes a protein of 1638 amino acids. CLTD shares significant homology, but is not identical to the ubiquitously expressed clathrin heavy chain gene. The CLTD gene also shows a unique pattern of expression, having its maximal level of expression in skeletal muscle. Velopharyngeal insufficiency and muscle weakness are common features of VCFS patients. Based on the location and expression pattern of CLTD, we suggest hemizygosity at this locus may play a role in the etiology of one of the VCFS-associated phenotypes.      

Pap smear screening history of women with squamous cell carcinoma and adenocarcinoma of the cervix

BACKGROUND: Since the introduction of the Pap smear screening, the incidence of squamous cell carcinoma (SCC) has decreased significantly, but the incidence of adenocarcinoma (AC) relative to SCC has increased. AIM: To compare the Pap smear history of patients with AC and SCC of the cervix. METHODS: Patients for the study were identified from the database of Queensland Centre for Gynaecological Cancer. Patients with AC and SCC were matched for age at diagnosis and International Federation of Gynecology and Obstetrics stage. The final population included 188 matched pairs, being 376 patients in total. Data were collected upon the histological type of cancer, result of the most recent Pap smear, date and result of the Pap smear prior to the most recent Pap smear and symptoms. Chi-squared tests and Fisher's exact test were used to compare the two patient groups for several variables. RESULTS: Patients with AC had significantly more false-negative results on their most recent Pap smear (P<0.0001) than patients with SCC. The incidence of symptoms such as bleeding and/or vaginal discharge was comparable in patients with AC and SCC. The time between the most recent Pap smear and the diagnosis of cervical cancer was significantly shorter for patients with AC (P=0.01). CONCLUSIONS: Patients with AC had Pap smears more regularly than those with SCC, and their most recent Pap smear was significantly more likely to be normal. Thus, Pap smear prior to a diagnosis of AC is more likely than SCC false-negative and therefore not indicative of cervical cancer.     

Comparision of blood loss between computer assisted and conventional total knee arthroplasty

Background:

Bleeding during total knee arthroplasty (TKA) can cause significant morbidity and mortality. One proposed benefit of computer assisted TKA is decreased bleeding as the femoral canal is not invaded. This study assessed blood loss between computer assisted surgery (CAS) and conventional TKA.

Materials and Methods:

73 consecutive patients (37 males, 36 females) underwent primary TKA between 2006 and 2009. Thirty eight patients underwent navigated TKA and 35 underwent conventional TKA for symptomatic osteoarthritis of the knee. These patients were matched for age, gender, and body mass index (BMI). Average age was 70.3 years (range 47-91 years). Mean BMI was 30 (range 17-49). Average preoperative hemoglobin was 13.26 g/dL (range 8.7-18.4 g/dL) in the navigated group and 13.47 g/dL (range 9.6-15.8 g/dL) in the conventional group (P = 0.9). Average tourniquet time was 110 min (range 90-150 min) in the navigated group and 96.7 min (range 60-145 min) in the conventional group (P = 0.77).

Results:

Average postoperative hemoglobin in the navigated group was 10.34 g/dL (range 7.5-14.8 g/dL) and in the conventional group was 10.03 g/dL (range 7.5-12.2 g/dL) (P = 0.17). Six patients in both groups required blood transfusions. The mean drain collection was 599 mL (range 150-1370 mL) in the navigated group and 562 mL (range 750-1000 mL) in the conventional group (P = 0.1724). These results suggest that there is no significant reduction in blood loss in CAS TKA.

Conclusion:

These results suggest that there is no significant difference in blood loss in CAS TKA and conventional TKA. This study also highlights the heterogeneity of methods used in studies related to CAS TKA. We believe that there is a need for a large multicenter prospective randomized controlled trial to be performed before a consensus can be reached on the influence of CAS techniques on blood loss during primary TKA.