Array-CGH detection of a de novo 0.8 Mb deletion in 19q13.32 associated with mental retardation,cardiac malformation,cleft lip and palate,hearing loss and multiple dysmorphic features

We report on a 28-year old woman carrying a 0.8 Mb de novo interstitial deletion in 19q13.32 detected by high-resolution array-CGH. She has severe mental retardation, tetralogy of Fallot, cleft lip and palate, deafness, megacolon and other dysmorphic features. Only a few cases of constitutional deletions located at the long arm of chromosome 19 have been previously described and this is the first report involving 19q13.32. The deleted region encompasses 15 genes, among which 3 candidate genes for genotype–phenotype correlation could be delineated. Since SLC8A2 is broadly expressed in brain and plays a potential role during embryonic development, its haploinsufficiency could possibly be related to mental retardation; as it is also expressed in aortic and intestinal smooth muscles, SLC8A2 could be related to the aortic defect of the complex cardiac malformation and to the megacolon. SAE1, a SUMO-1 activating enzyme subunit, may be related to cleft lip and palate. KPTN coding region may be a candidate gene for hearing loss. Further experimental studies on either in vivo models or diagnostic materials are needed to elucidate the role of these potential candidate genes for the phenotypic abnormalities observed in the investigated patient.     

Attitudes towards 12-step groups and referral practices in a 12-step naive treatment culture; a survey of addiction professionals in Norway

Background  

Addressing substance use disorders effectively requires a long-term approach. Substance abuse treatment is typically of short duration; referring patients to Twelve Step based self-help groups (TSGs) – e.g. Narcotics Anonymous, represents a promising complementary recovery resource. Clinicians' attitudes and referral practices towards the TSGs have mainly been studied in countries with high integration of the 12-step philosophy in their substance abuse services and where the TSGs are widely available, such as the US. In Norway, there are currently 294 weekly TSG meetings (6 per 100,000 inhabitants). This study describes clinicians' attitudes and referral practices to TSGs in Norway where health authorities seek to promote self-help participation, but where the treatment culture is unfamiliar with 12-step fellowships.     

Acute occlusion of popliteal and/or tibial arteries: the value of percutaneous treatment.

OBJECTIVES: to describe early and mid-term results with a percutaneous therapeutic protocol including thromboaspiration, thrombolysis, and correction of the underlying lesion by PTA. METHODS: thirty-three consecutive selected patients with recent (<1 month) reversible acute ischaemia associated with popliteal and/or tibial occlusion were studied. The primary endpoints were technical success (defined as residual mural thrombus less than 20% of the lumen and the presence of at least one tibial artery on angiogram), patient survival and limb salvage at 1 and 12 months. Secondary endpoints included complications, primary, assisted primary and secondary patency determined by duplex scan at 1, 6 and 12 months. RESULTS: technical success was achieved in 27 patients (82%). Twenty patients were treated by thrombo- aspiration+/-thrombolysis only, and seven required additional PTA (26%). In six patients (18%), percutaneous techniques failed, and embolectomy was performed in two, bypass in one and major amputations in three (9%). For the entire series, the survival rate was 100% at 1 month and 94% at 1 year. The limb salvage rate was 91% at 1 month and 1 year. The cumulative primary patency, assisted primary patency and secondary patency rates were 81%, 81% and 86% respectively at 1 month and 66%, 72% and 77%, respectively, at 12 months. Early complications occurred in 10 patients (30%): five groin haematomas (15%), four compartment syndromes (12%) and one haemoglobinuria (3%). CONCLUSION: percutaneous techniques offer excellent early and mid-term results in selected patients presenting with acute ischaemia with popliteal and/or tibial arteries occlusion.     

Chimioradiothérapie concomitante préopératoire dans les carcinomes du col utérin de stades IB2 à IIB : expérience de l’institut Curie

PurposeTo evaluate the treatment results of patients (pts) with Figo stage IB2, IIA, IIB cervical carcinoma (CC) treated with preoperative radiochemotherapy, followed by extended radical hysterectomy.Patients and methodsRetrospective study of 148 women treated to the institut Curie for operable Figo Stage IB2 to IIB, biopsy proved CC. Among them, 70 pts, median age 46 years, were treated using the same regimen associating primary radiocisplatinum based chemotherapy, intracavitary LDR brachytherapy, followed by extended radical hysterectomy. Kaplan-Meier estimates were used to draw survival curves. Comparisons of survival distribution were assessed by the log-rank test.ResultsComplete histological local-regional response was obtained in 56% of the pts (n = 39). Residual macroscopic or microscopic disease in the cervix was observed in 28 pts (40%). All but one had in situ microscopic residual CC. Lateral residual disease in the parametria was also present in nine pts, all with residual CC. Pelvic lymph nodes were free from microscopic disease in 56 pts (80%). Eight of 55 (11%) radiological N0 patients had microscopic nodal involvement, as compared to 6/15 (40%) radiological N1 (p = 0.03). Seventeen pts (25%) had residual cervix disease but negative nodes. After median follow-up of 40 months (range, 8–141), 38/70 patients (54.1%) are still alive and free of disease, six (8.6%) alive with disease, and 11 (15.8%) patients were lost for follow-up but free of disease.ConclusionThe treatment of locally advanced CC needs a new multidisciplinary diagnostic and treatment approach using new therapeutic arms to improve the survival and treatment tolerance among women presenting this disease.     

Trichosporon beigelii funguria in renal transplant recipients.

Trichosporon beigelii funguria in renal transplant recipients is usually benign and is seldom associated with invasive or deep-seated infections.