Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation.

BACKGROUND: The Reunion Island is a French administrative department located in the Indian Ocean between the islands of Madagascar and Mauritius. Its population is known to be at a high risk of cystic fibrosis (CF). METHODS: Data concerning all CF patients born at the Reunion Island was extracted from the French CF Registry. Twenty-eight DeltaF508/DeltaF508, 17 Y122X/DeltaF508, and 11 Y122X/Y122X were included in a genotype-phenotype study. RESULTS: The detection rate of the CFTR mutations was 83% among the CF patients born at the Reunion Island. Three CFTR mutations accounted for 75% of the detected CF alleles at the Reunion Island (DeltaF508, Y122X, and 3120 + 1G-->A.). The DeltaF508/DeltaF508, DeltaF508/Y122X, and Y122X/Y122X genotypes accounted for 60.2% of the CF patients. Patients carrying at least one Y122X mutation were pancreatic insufficient, had high sweat chloride values and significantly lower anthropometric measures. The mean anthropometric values in all three groups were lower that in the whole CF population followed in "continental" France. This may reflect the poor compliance and even the refusal of treatment noted by the clinicians. CONCLUSIONS: The distribution of CFTR mutations could be explained by the history of the Reunion Island: admixture of French settlers, African and Asian populations, founder effect and isolation followed by genetic drift. The Y122X allele appears to be associated with a severe phenotype.     

Prognostic Value of BRAF V600 Mutations in Melanoma Patients After Resection of Metastatic Lymph Nodes

Purpose

BRAF ^V600 mutations are frequent in melanomas, and BRAF^V600-targeted therapy have dramatic, but often transitory, efficacy in stage IV patients. Prognosis of patients with American Joint Committee on Cancer (AJCC) stage III melanoma is heterogeneous. We aimed to determine the overall survival (OS) of stage III patients with a nodal deposit of ??2?mm according to BRAF ^V600 mutations and other previously reported prognostic criteria.

Methods

This retrospective study included 105 consecutive patients with stage III cutaneous melanomas. Most patients underwent a prospective follow-up. BRAF ^V600 mutations were detected by sequencing and pyrosequencing of DNA in samples containing >60?% melanoma cells.

Results

BRAF mutations (p.V600E and p.V600K in 83 and 14?% of cases, respectively) were detected in 40?% of the patients. For patients with and without BRAF mutations, death occurred in 83.3 and 60.3?%, with a median OS of 1.4 and 2.8?years, respectively. Patient age, primary melanoma ulceration, number of invaded lymph nodes, AJCC staging at study entry, and BRAF status were linked to OS in the univariate analysis. The only characteristics associated with OS in the multivariate analysis were number of invaded lymph nodes (P?=?0.005, hazard ratio 2.2, 95?% confidence interval 1.3?C3.9) and BRAF status (P?=?0.005, hazard ratio 1.9, 95?% confidence interval 1.2?C3.1).

Conclusions

BRAF ^V600 status could be used to stage melanoma patients with nodal deposits. Our results may also help to plan adjuvant trials in these patients, for whom the low tumor load may induce longer efficacy of BRAF-targeted therapies.     

Latent Subclinical Medullary Thyroid Carcinoma: Diagnosis and Treatment

n = 11), palpable metastatic lymph node ( n = 6), distant metastases ( n = 4). In nine cases the diagnosis was made by both fine-needle aspiration cytology and serum CT measurement. In the four other cases the initial cytology was incorrect, but the diagnosis was revised on the basis of elevated basal CT values. In 11 patients (group 2) presenting with nodular thyroid disease, SMTC was not clinically detectable. SMTC was preoperatively suspected by elevated CT levels: basal CT > 10 pg/ml and pentagastrin-stimulated CT peak > 100 pg/ml. One patient in group 1 with distant metastases was not operated on. All of the other 12 patients underwent total thyroidectomy and extensive lymph node dissection. The mean size of the tumors was 27 mm. Lymph node involvement was found in nine patients. After surgery, CT levels returned to normal in five patients but remained elevated in five others; the two remaining patients died of distant metastases. All 11 patients in group 2 underwent total thyroidectomy and central neck dissection. None of the 11 patients had nodal extension. All 11 patients are biochemically cured. It was concluded that routine measurement of basal serum CT in those with nodular thyroid disease allows early, preoperative diagnosis of subclinical SMTC and improves the results of surgery.     

Comparison of image quality between 70 kVp and 80 kVp: application to paediatric cardiac CT

Purpose

To evaluate noise level and contrast-to-noise ratio (CNR) with various kVp-mAs pairs producing the same computed tomography dose index (CTDI) value. The 80 kVp and new 70-kVp settings were compared.

Materials and methods

The noise was measured in 10 ovoid water phantoms with different diameters from 10 cm to 28 cm. Contrast was obtained from CTs of iodine-filled tubes. Spiral acquisition protocols at 70 kVp and 80 kVp, with the same CTDI, were applied. In the clinical study, two matched groups, each of 21 paediatric patients, underwent 70-kVp or 80-kVp ECG-gated iodinated-enhanced sequential CT.

Results

Noise was significantly higher with 70 kVp than 80-kVp settings for all phantom sizes. Estimated CNR with phantoms was higher at 70 kVp than 80 kVp, and the difference decreased from 17 % to 3 % as phantom size increased. The mean CNR in paediatric patients was 15.2 at 70 kVp and 14.3 at 80 kVp (ns). The CNR difference was significantly larger in the small-child subgroup.

Conclusion

Noise level is slightly higher at the 70-kVp than the 80-kVp setting, but the CNR is higher, particularly for small children. Therefore, 70 kVp may be appropriate for contrast-enhanced CT examinations and 80 kVp for non-enhanced CT in small children.

Key Points

? 70-kVp settings provide a slightly higher noise level compared to 80-kVp settings. ? The CNR is higher with 70-kVp than with 80-kVp settings. ? Without contrast, 80-kVp settings may be preferable over 70-kVp settings.     

Endovascular control of patent internal thoracic artery graft in aortic valve surgery

Aortic valve replacement in patients who underwent previous coronary artery bypass with a patent internal thoracic artery is often a challenge because of the risk of graft injury during dissection or difficulties to obtain optimum myocardial protection. Different approaches to myocardial protection or internal thoracic graft dissection and control have been described. Endovascular control of the internal thoracic graft by an angioplasty balloon catheter positioned in the operating room before the operation can be a safe and simple alternative. We report the case of a patient who underwent this technique for aortic valve replacement.     

Intracranial meningeal melanocytoma associated with ipsilateral nevus of Ota. Case report

In this report, the authors review the case of a man with a neurocutaneous syndrome. He presented with an intracerebral melanocytoma associated with a blue nevus of the scalp; its location and its appearance during childhood supported the diagnosis of a nevus of Ota. Meningeal melanocytomas are increasingly being diagnosed, but remain rare. Primary meningeal malignant melanoma is the first differential diagnosis to eliminate. Despite their common embryonic origin. the association of a melanocytoma with a nevus of Ota is rare. A nevus of Ota exhibits the same melanocytic proliferation and affects the trigeminal nerve territory. An ocular effect is not always observed. In contrast to an ocular lesion, a nevus of Ota rarely transforms into a malignant melanoma. It is found only among caucasians. During 4 years of follow-up review after surgery, the patient remained asymptomatic. Other than antiepileptic therapy, he received no complementary treatment and cerebral imaging revealed no evidence of recurrence.     

When "abegg" is read and ("A, B, E, G, G") is not: a cortical stimulation study of musical score reading

OBJECT: To spare the cortical areas involved both in musical score reading and in language, the authors used a score reading task during direct cortical stimulation mapping in musicians undergoing operations for brain lesions. The organization of the cortical areas involved in language and score reading, respectively, was analyzed in relation with these surgical data. METHODS: Seven patients with brain lesions were tested using three language tasks and a score-reading task. Preoperatively, none of them had exhibited significant language or musical ability deficits, and all had a special interest in music. All were involved in professional or amateur musical activities. Interference in score reading was found in small cortical areas, mainly in the dominant parietal lobe and sometimes in the frontal gyri. During direct stimulation, interference was either language-specific (15 sites), common to language and score-reading tasks (18 sites), or specific to the score-reading task (four sites). Different patterns of score-reading interferences (score-reading arrest, semantic paraphasia) were observed, probably corresponding to different stages of score reading. Postoperatively, some patients showed transitory score-reading difficulties related to the surgical procedure. CONCLUSIONS: The cortical areas involved in score reading can occasionally be distinct from other language areas. This could explain differential word- and score-reading impairments sometimes observed in musicians with brain lesions. Brain mapping for neurosurgical procedures in musicians should ideally be performed using a score-reading task in addition to standard language tasks, especially for mapping in the dominant parietal lobe.     

Medial pancreatectomy: a multi-institutional retrospective study of 53 patients by the French Pancreas Club

BACKGROUND: The results of medial pancreatectomy have been previously reported anecdotally. The purpose of the study was to provide short- and long-term results of MP in a large multicenter collective series. METHODS: From 1990 to 1998, 53 patients (mean age +/- SD = 49 +/- 15 years) underwent medial pancreatectomy for primary cystic neoplasms of pancreas (n = 19), endocrine neoplasms (n = 17), intraductal papillary mucinous neoplasms (IPMN) (n = 6), fibrotic stenosis of the Wirsung's duct (n = 4), or other benign (n = 4) or malignant (n = 3) diseases. The proximal (right) pancreatic remnant was sutured (n = 53), and the distal (left) remnant was either anastomosed to a jejunal loop (n = 26), to the stomach (n = 25), or oversewn (n = 2). Medial pancreatectomy was indicated in 3 patients (6%) because of failed enucleation, in 3 (6%) to prevent worsening of preexisting diabetes, or to prevent de novo diabetes in a patient with chronic pancreatitis, and deliberately in the 47 others. RESULTS: The length of the resected pancreas was 5.0+/- 2.2 cm (range, 2-15). One patient (2%) died from a pancreatic fistula and portal thrombosis. Three patients were reoperated on because of complications related to the left pancreas, which was partially or totally resected. Pancreatic fistula developed in 16 patients (30%). Mean delay for the return of oral feeding was related to the presence of a pancreatic fistula. At follow-up (median = 26 months, range, 12-131), 1 pancreatic recurrence and 1 de novo diabetes occurred in patients without IPMN. In patients with IPMN, the rates of pancreatic recurrence and diabetes were 40% (2/5), respectively. CONCLUSIONS: Medial pancreatectomy effectively preserves long-term endocrine function and is associated with a low risk of local recurrence, except in patients with IPMN. However, there is a high risk (30%) of PF after medial pancreatectomy.     

Paraplegia after routine cardiac surgery: a rare complication

Two cases of spinal cord infarction with clinical paraplegia are discussed in patients undergoing elective and uncomplicated cardiac procedures with cardiopulmonary bypass. In both cases, the primary etiology was likely peripheral embolization. Other possible etiologies are reviewed, previously reported cases are discussed, and possible solutions to avoid this devastating problem are addressed.