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.      

Metastatic parathyroid carcinoma treated with radiofrequency ablation: A novel therapeutic modality

Parathyroid carcinoma (PCA), accounting for less than one per cent of all endocrine malignancies, is a rare cause of primary hyperparathyroidism. A diagnosis of parathyroid carcinoma may be challenging in the presence of localised disease and involves a histological diagnosis based on capsular, vascular, or perineural invasion or the presence of metastasis. Distant metastasis remains a rare presentation, with the lung being the most common site. Surgery remains the treatment of choice as radiotherapy and chemotherapy have proved to be of limited benefit in metastatic disease. This case reports suggests that radiofrequency ablation has the potential to be a novel and effective treatment option in these patients.     

Purified Escherichia coli recA protein catalyzes homologous pairing of superhelical DNA and single-stranded fragments.

Purified Escherichia coli recA protein catalyzed ATP-dependent pairing of superhelical DNA and homologous single-stranded fragments. The product of the reaction: (i) was retained by nitrocellulose filters in 1.5 M NaCl/0.15 M Na citrate at pH 7, (ii) was dissociated at pH 12.3 but was not dissociated by heating at 55 degrees C for 4 min or by treatment with 0.2% sodium dodecyl sulfate and proteinase K, (iii) contained covalently closed circular double-stranded DNA (form I DNA), (iv) contained single-stranded fragments associated with replicative form (RF) DNA, and (v) contained a significant fraction of D-loops as judged by electron microscopy. Linear and nicked circular double-stranded DNA did not substitute well for superhelical DNA; intact circular single-stranded DNA did not substitute well for single-stranded fragments. Homologous combinations of single-stranded fragments and superhelical DNA from phages phiX174 and fd reacted, whereas heterologous combinations did not. The reaction required high concentrations of protein and MgCl2. The ATPase activity of purified recA protein was more than 98% dependent on the addition of single-stranded DNA. In 1 mM MgCl2, the ability of superhelical DNA to support the ATPase activity was two-thirds as good as that of single-stranded DNA.     

Serotype 10A in Case Patients with Invasive Pneumococcal Disease: A Pilot Study of PCR-Based Serotyping in New Jersey

In 2008, the New Jersey Department of Health (NJDOH) identified a 21.1% increase in reported invasive pneumococcal disease (IPD). In 2009, NJDOH piloted nucleic acid-based serotyping to characterize serotypes causing IPD. From April through September, NJDOH received specimens from 149 of 302 (49%) case patients meeting our case definition. An uncommon serotype, 10A, accounted for 25.2% of IPD overall and was identified in 12 counties, but it was associated with one county (rate ratio = 5.4, 95% confidence interval [CI] 2.1, 11.8). NJDOH subsequently conducted a case-control study to assess the presentation of and clinical risk factors for 10A IPD. Case patients with 10A IPD were more likely to have had immunosuppression, asthma, and multiple chronic medical conditions than control subjects had (odds ratio [OR] = 2.6, 95% CI 1.1, 6.3; OR=4.7, 95% CI 1.7, 13.2; and OR=2.3, 95% CI 1.0, 5.2, respectively). State-based pneumococcal serotype testing identified an uncommon serotype in New Jersey. Continued pneumococcal serotype surveillance might help the NJDOH identify and respond to future serotype-specific increases.Streptococcus pneumoniae (S. pneumoniae) is a leading cause of bacterial pneumonia, bacteremia, and meningitis. In 2008, the New Jersey Department of Health (NJDOH) observed a 21.1% increase in reported invasive pneumococcal disease (IPD) compared with IPD cases reported in 2007 (95% confidence interval [CI] 8.6, 35.2, 8.33 cases/100,000 population in 2008 vs. 6.88 cases/100,000 population in 2007), including increases in four counties. In response, in 2009, NJDOH began a pilot project to characterize the serotypes causing IPD and to determine if serotypes not included in current vaccines contributed to these increases. When our investigation identified an unusual serotype, 10A, NJDOH conducted a case-control study to assess the presentation of and clinical risk factors for 10A IPD.     

Isolated,relative aproverbia without focal lesion

ABSTRACT

We have seen a patient with a profound, isolated, and quite selective deficit in proverb interpretation—aproverbia. The patient presented to us after an anoxic brain injury with aproverbia. Interestingly, the aproverbia appeared to be premorbid to the presenting event. Furthermore, the patient had no brain lesion that has been associated or even proposed as a cause of deficit in proverb or metaphor interpretation. The patient did have acute bilateral hippocampi lesions and associated severe anterograde amnesia, but he retained good retrograde memory with which he is able to give good, logical but concrete explanations for proverbs. This case highlights the need, importance, and interest in further neuropsychologic, imaging and functional studies of proverb and interpretation in patients and normal subjects populations.     

Nerve-sparing robotic radical hysterectomy: our technique

Robotic surgery is now becoming accepted for treatment of gynaecological malignancies. Nerve preservation during radical hysterectomy is increasingly being offered due to improved post-operative bladder and sexual function. We aimed to demonstrate the feasibility of performing a nerve-sparing radical hysterectomy robotically and to assess the oncological and functional outcomes associated with this surgery. Between August 2011 and January 2013, a total of 12 non-consecutive patients underwent robotic surgery for early stage cervical cancer at our institution. Patients comprising FIGO stage IA2 to IB1 were treated with nerve-sparing robotic radical hysterectomy using a C1 (Querleu–Morrow classification) type technique. The feasibility, operative time, blood loss, oncological outcome and post-operative bladder function were assessed. All the procedures were completed robotically without conversion to laparoscopy or laparotomy. The mean age of the patients was 56 years (range 44–76) and their mean body mass index was 22.6 kg/m² (range 18.1–26.4). The mean operative time was 156 min (range 120–250); the mean blood loss was 120 ml (50–250). The Foley catheter was removed on the third post-operative day, with full recovery of bladder function in all patients except one who required prolonged catheterisation for 3 weeks. Residual urine was 40 ml (range 30–80). Parametrial margins of 2.5–3 cm, distal vaginal margins of 2–2.5 cm and a mean nodal harvest of 24 (range 18–30) were achieved. The mean hospital stay was 3 days (range 2–6). The median follow-up is 12 months. There is no loco-regional recurrence. All the patients are sexually active. Robotic nerve-sparing radical hysterectomy is technically feasible to perform, and is oncologically safe for early stage cervical carcinoma.     

Robotic total pelvic exenteration

Introduction

Pelvic exenteration is now becoming widely acceptable as a curative procedure rather than a palliative one. Performing these surgeries by minimally invasive techniques helps to improve the quality of life and decrease the morbidity of these extensive procedures.

Aims and objectives

To demonstrate the feasibility of performing a total pelvic exenteration robotically, and to study the morbidity associated with such extensive surgery.

Materials and methods

A 35-year-old female with advanced cervical cancer presented with a vesicovaginal fistula and a rectovaginal fistula. In view of these, we performed a total robotic pelvic exenteration with colo-anal anastomosis and uretero-sigmoidostomy. The patient refused an ileal-loop conduit for urinary tract diversion due to social reasons associated with a stoma.

Results

The total operative time was 240 min and the console time was 120 min. The estimated blood loss was 300 ml and the intensive care unit stay was 2 days. Post-operatively, the patient had good faecal and urinary continence and good quality of life.     

ras gene mutations in oral cancer in eastern India

Oral tumor specimens (n = 50) from eastern Indian population were studied for the presence of mutations in the H-, K- and N-ras genes using selective oligodeoxynucleotide hybridization and restriction fragment length polymorphism analysis of polymerase chain reaction-amplified products. Mutations in H- and K-ras genes were observed at a frequency of 28 and 33%, respectively, whereas no N-ras mutation was noticed.