A large West Antarctic Ice Sheet explains early Neogene sea-level amplitude.

Early to Middle Miocene sea-level oscillations of approximately 40-60 m estimated from far-field records1-3 are interpreted to reflect the loss of virtually all East Antarctic ice during peak warmth2. This contrasts with ice-sheet model experiments suggesting most terrestrial ice in East Antarctica was retained even during the warmest intervals of the Middle Miocene4,5. Data and model outputs can be reconciled if a large West Antarctic Ice Sheet (WAIS) existed and expanded across most of the outer continental shelf during the Early Miocene, accounting for maximum ice-sheet volumes. Here we provide the earliest geological evidence proving large WAIS expansions occurred during the Early Miocene (~17.72-17.40 Ma). Geochemical and petrographic data show glacimarine sediments recovered at International Ocean Discovery Program (IODP) Site U1521 in the central Ross Sea derive from West Antarctica, requiring the presence of a WAIS covering most of the Ross Sea continental shelf. Seismic, lithological and palynological data reveal the intermittent proximity of grounded ice to Site U1521. The erosion rate calculated from this sediment package greatly exceeds the long-term mean, implying rapid erosion of West Antarctica. This interval therefore captures a key step in the genesis of a marine-based WAIS and a tipping point in Antarctic ice-sheet evolution.

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

BACKGROUND: Array-comparative genomic hybridization (array-CGH) is a widely used technique to detect copy number variants (CNVs) associated with developmental delay/intellectual disability (DD/ID). AIMS: Identification of genomic disorders in DD/ID. MATERIALS AND METHODS: We performed a comprehensive array-CGH investigation of 1,015 consecutive cases with DD/ID and combined literature mining, genetic evidence, evolutionary constraint scores, and functional information in order to assess the pathogenicity of the CNVs. RESULTS: We identified non-benign CNVs in 29% of patients. Amongst the pathogenic variants (11%), detected with a yield consistent with the literature, we found rare genomic disorders and CNVs spanning known disease genes. We further identified and discussed 51 cases with likely pathogenic CNVs spanning novel candidate genes, including genes encoding synaptic components and/or proteins involved in corticogenesis. Additionally, we identified two deletions spanning potential Topological Associated Domain (TAD) boundaries probably affecting the regulatory landscape. DISCUSSION AND CONCLUSION: We show how phenotypic and genetic analyses of array-CGH data allow unraveling complex cases, identifying rare disease genes, and revealing unexpected position effects.

Obliquity-paced Pliocene West Antarctic ice sheet oscillations.

Thirty years after oxygen isotope records from microfossils deposited in ocean sediments confirmed the hypothesis that variations in the Earth's orbital geometry control the ice ages, fundamental questions remain over the response of the Antarctic ice sheets to orbital cycles. Furthermore, an understanding of the behaviour of the marine-based West Antarctic ice sheet (WAIS) during the 'warmer-than-present' early-Pliocene epoch ( approximately 5-3 Myr ago) is needed to better constrain the possible range of ice-sheet behaviour in the context of future global warming. Here we present a marine glacial record from the upper 600 m of the AND-1B sediment core recovered from beneath the northwest part of the Ross ice shelf by the ANDRILL programme and demonstrate well-dated, approximately 40-kyr cyclic variations in ice-sheet extent linked to cycles in insolation influenced by changes in the Earth's axial tilt (obliquity) during the Pliocene. Our data provide direct evidence for orbitally induced oscillations in the WAIS, which periodically collapsed, resulting in a switch from grounded ice, or ice shelves, to open waters in the Ross embayment when planetary temperatures were up to approximately 3 degrees C warmer than today and atmospheric CO(2) concentration was as high as approximately 400 p.p.m.v. (refs 5, 6). The evidence is consistent with a new ice-sheet/ice-shelf model that simulates fluctuations in Antarctic ice volume of up to +7 m in equivalent sea level associated with the loss of the WAIS and up to +3 m in equivalent sea level from the East Antarctic ice sheet, in response to ocean-induced melting paced by obliquity. During interglacial times, diatomaceous sediments indicate high surface-water productivity, minimal summer sea ice and air temperatures above freezing, suggesting an additional influence of surface melt under conditions of elevated CO(2).

Mesenteric cystic lymphangioma treated with laparoscopic excision: case report and review of the literature.

Mesenteric cystic lymphangioma is a rare lesion. We described a case of 20 years old patient with an asymptomatic cystic lymphangioma that was detected after ultrasound scan performed for a minor abdominal trauma. The patient was treated with laparoscopic exploration and an intestinal resection by mini-laparotomy. Although very rare, cystic mesenteric lymphangiomas may cause complications; therefore, they should be always treated with surgical excision and should be included in the differential diagnosis of acute abdomen.

Unicentric Castleman's disease in peripancreatic tissue: case report and review of the literature.

Castleman's disease is a rare disorder of the lymphoid tissue that usually occurs in the mediastinum even if extrathoracic involvement, including neck, axilla, mesentery and retroperitoneum, has also been described. We report a case of a 69 years old men with peripancreatic localisation, mimicking a pancreatic neoplasm treated with local excision. Only seven cases of pancreatic and peripancreatic localisation are described in the world-wide literature. This particular site of disease may give troublesome differential diagnosis due to non specific clinical signs and radiological features. Often surgical excision is both diagnostic and therapeutic.

Combined resection and multi-agent adjuvant chemotherapy for intra-abdominal desmoplastic small round cell tumour: case report and review of the literature.

Desmoplastic small round cell tumor (DSRCT) is a rare, highly aggressive malignancy with distinctive histological and immunohistochemical features occurring in young population with male predominance. We report a case of DRSCT occurred in a 17 years old patient which presented with a large upper left quadrant abdominal mass that was treated with a very aggressive surgical approach and multi-agent chemotherapy. At a 12 months follow-up he is free of recurrence. This kind of tumour has a very poor prognosis. No standard treatment protocol has been established. Aggressive surgery combined with postoperative multi-agent adjuvant chemotherapy is justified not only to relieve symptoms but also to try to improve the outcome.

[Evaluation of thyroid function in a group of over-eighty year-old people]. / Valutazione della funzionalità tiroidea in un gruppo di ultraottantenni.

AIM: A number of studies has shown that during aging thyroid presents some structural changes, whilst no data agree about secretory activity. The aim of the present study was to evaluate thyroid function in a group of healthy over-80 years old people vs a group of young subjects. METHODS: This study was performed on 48 old people, 33 women (68.75%) and 15 men (31.25%), mean age 86.38+/-5.20 years old and 43 young subjects, mean age 33.35+/-3.75 years old; all of them were euthyroid and were not affected with any acute or chronic diseases and did not take any drugs which could interfere with thyroid function. A blood sample was taken from each patient, for dosing TT3, TT4, FT3, FT4, TSH, TgAb, TPOAb. RESULTS: The results of the present study show low serum levels of TT3 in healthy over-80 year old people compared to young people, even if serum levels of TT4, FT3, FT4, TSH have no significant changes. CONCLUSIONS: Functional reduction in thyroid activity during aging has not to be considered responsible for senile involution; it is more appropriate to define it as the expression of a metabolic slow down in the elderly.

Hysteroscopic retrieval of occult IUD.

PIP: The direct view of the uterine cavity offered by hysteroscopy can provide valuable information about the position of an IUD, its condition, and its relationship with other formations, thereby facilitating its removal. The diagnostic and therapeutic reliability of this technique was analyzed in 8 women with occult IUDs. Involved were 3 Nova T IUDs, 2 Gravigards, 2 Minigravigards, and 1 Progestasert device. 1 patient had undergone unsuccessful curettage for removal of the IUD; none of the other women had experienced any surgical manipulation prior to the hysteroscopy. The surgery consisted of 4 steps: 1) distention of the uterine cavity by insufflation of carbon dioxide, 2) hysteroscopic location of the IUD, 3) sighted grasping of the IUD or IUD segment with forceps, and 4) removal of the device together with the hysteroscope under dynamic vision. Hysteroscopic location and removal were successful in all 8 patients, with no complications. Hysteroscopy is thus recommended as an alternative retrieval technique, especially in cases when it is necessary to assess the deterioration and possible myometrial penetration of the IUD or the inflammation of the uterine cavity.^ieng

Atherothrombotic microembolism of the lower extremities (the blue toe syndrome) from atherosclerotic non-aneurysmal aortic plaques.

Six patients with no hemodynamically significant atherosclerotic lesions of the lower limb arteries but with ischemic changes of the feet or toes were studied and diagnosed as having atherothrombotic microembolism. All patients were non claudicators and had peripheral Doppler examinations on admission. Five patients experienced more than one separate episode of microembolization involving both extremities. None presented with a history of heart disease or diabetes. Biplanar arteriograms revealed in every case atherosclerotic degeneration of the aorta without any obstructing lesions and anatomical arterial continuity between the aorta and the site of distal embolization. Three patients who refused operation, were treated conservatively, with a combination of dipyridamole plus aspirin. Three other patients had surgical repair of their atheromatous infrarenal aorta: in two cases thromboendarterectomy was performed, and in the other a Dacron bifurcated graft interposition. No amputations resulted in the patients treated medically, but one of the surgical group lost one toe. This study confirms that atherothrombotic microembolism from an ulcerated atherosclerotic aorta is a potential threat to the extremities and indicates that the optimal therapy for this syndrome has yet to be found.

S.C.S. effectiveness in patients affected by peripheral chronic arterial disease: our 5 years experience.

Spinal cord stimulation (S.C.S.) showed a valid clinical effect in the treatment of chronic obliterative arteriopathy of the lower limbs at an advanced stage (III-IV stages) and of phantom limb pain syndrome (P.L.P.S.). Secretion patterns of various biochemical mediators were evaluated and mechanism, by which analgesic and vasodilatator actions occur, were thus accounted for. There is not agreement on this subject. We report our experience on 60 patients (age range 28-91), observed over the period 1987-92. Blood values of some chemical mediators (beta-endorphins, Kinins, Serotonin, PGE) were determined before and after stabilization of the S.C.S. implant (from 2 up to 6 months) and compared with the objective clinical and TCpO2 data. Statistical significance was checked of variations obtained (Student's "t" test). High significant increase of TCpO2, beta-endorphins, PGE, (p < 0.01) and the Kinins (p < 0.05) was found but there were no significant alteration of Serotonin. Results are explained and an S.C.S. effect at the spinal cord metamer level with a cortical integration (pointed out by the increase of the beta-endorphins) is suggested. Analgesic effectiveness and vasodilatator action of S.C.S. implant is stressed as long as it is carried out only when a correct indication is established in the absence of contraindications or important risk.

Fibrosclerotic lymphedema: pathophysiology and therapy.

We describe our experience with 12 patients with severe fibrotic lymphedema treated between 1979 and 1987. Each patient initially underwent nonoperative treatment (postural drainage and pneumatic compression) and in 10 patients who required operation, these measures were continued postoperatively. Operation included excision of subcutaneous tissue (debulking), which was extensive in 8 and limited in 2 patients. Only 2 patients were satisfactorily managed by nonoperative treatment alone. Based on the extensive pathophysiologic changes that occur in the tissue microenvironment with lymph stasis, it is unlikely that at this advanced stage of lymphedema that nonoperative treatment alone or "physiologic" operations such as lymphatic-venous shunt or lymphatic collector reconstruction is satisfactory. Rather, nearly all such patients require limited or extensive excision of the fibrotic-edematous subcutaneous tissue.

[Femoral anastomotic pseudoaneurysms]. / Gli pseudoaneurismi anastomotici a sede femorale.

In this paper the Authors discuss about femoral anastomotic pseudoaneurysms. They throughly consider the etiopathogenesis of this late complication of arterial prothesic surgery, pointing out the different hypothesis currently discussed. Particularly from this analysis it can be concluded that the choice of appropriate prothesic grafts and the weakness of an eventually endarterectomized arterial wall are the principal determinants in causing pseudoaneurysms. Between the different therapeutic choices the opportunity of an interposition graft is underlined, except for (rare) cases when an extra-anatomic bypass must be preferred.

[Use of BICAP by endoscopic route in the palliative treatment of neoplastic stenosis of the esophagus]. / L'impiego del BICAP per via endoscopica nel trattamento palliativo delle stenosi neoplastiche dell'esofago.

Over the years the palliative treatment of neoplastic stenosis of the esophagus in patients who cannot be operated has seen a variation of endoscopic methods which aimed to reopen the alimentary canal either using simple dilatation, or the insertion of endoprostheses, or sclerosing injection or antiblastic therapy, or lastly using disobstructive laser therapy. In particular, the use of Neodymium YAG laser in endoscopic therapy for the deobstruction of neoplastic esophageal stenosis is currently widely used. More recently deobstruction of the stenosis may also be achieved using bipolar diathermocoagulation with BICAP following esophageal dilatation. Recent comparative studies of the use of BICAP and laser therapy in the treatment of neoplastic esophageal stenosis have tended to reveal the complementary characteristics of the two techniques. The present paper reports the Authors' experience in this respect which has been satisfactory with regard to both methods, in line with the findings of other studies. In the study of two groups of 8 patients treated with BICAP and laser therapy respectively, recanalisation was obtained in 100% of cases with good functional results in 75% of patients treated with BICAP and 87.5% of those receiving laser therapy. The time interval between one treatment session and the next in relation to the efficacy of the therapy was similar in both methods and ranged from a minimum of 4 weeks to a maximum of 12 weeks. Complications were scarce in both groups.

[Malignant pheochromocytoma of the adrenal gland. Diagnosis 14 years after an incidental discovery of a contralateral pheochromocytoma]. / Phéochromocytome malin de la surrénale. Découverte occasionnelle 14 ans après un incidentalome. Phéochromocytome controlatéral.

The authors present a case of malignant adrenal phaeochromocytoma incidentally discovered 14 years after a similar finding in the controlateral adrenal gland. The rarity of incidentally discovered malignant adrenal phaeochromocytoma (second report in the literature) and the importance of isotope scan with MIGB for the investigation of asymptomatic and nonfunctioning phaeochromocytomas are outlined.

Characterisation of fatty acids in drying oils used in paintings on canvas by GC and GC-MS analysis.

Of the various binding media used in paintings, this work examines drying oils. During the initial phase of polymerisation and the progressive ageing process, the fraction of unsaturated and polyunsaturated fatty acids undergoes various changes (reticulation, oxidation, etc.), that give rise to characteristic compounds. Within a broader research project, aimed at the characterisation of binding media, a preliminary study was made of the ageing process of linseed oil. In this regard, linseed oil was spread on a glass or canvas support and then dried in the open air. The ageing of the spread linseed oil was monitored by taking samples of the material at regular intervals. After the fatty acids had changed into methylesters, the samples were analysed by gas chromatography (GC) and gas chromatography-mass spectrometry (GC-MS). The results obtained have been reported as a ratio between the areas of the chromatographic peaks of the different fatty acids found.

[Social and health services needs in a sample of elderly people in Catanzaro]. / Domanda di assistenza socio-sanitaria in un campione di anziani a Catanzaro.

The aim of this study is to analyze the general health state conditions of older people living in Catanzaro, using a multidimensional assessment instrument to determine their social and health needs. To this purpose, a sample of 544 individuals (344 women and 210 men) older than 65 years of age (mean age = 75.3) was selected from the general population. All subjects were administered the OARS (Older Americans Resources and Services) questionnaire that evaluates five areas: physical health, mental health, social resources, economic resources and Activities of Daily Living (ADL). The percentage of subjects with score 3 or more in each area, and therefore identified as partially or totally dependent, is higher in the area of physical health (17.9%) and ADL (16.6%). About 65% of the sample is not disabled in any of the different areas, while 8% is dependent in 3 or more areas. These subjects are partially or totally dependent elderly people, who stay at their own house in precarious conditions, and are able to remain there only because they are helped by informal caregivers. Probably these people are those for whom any domiciliary help is necessary and more urgent in order to support the existing stability and to avoid institutionalization.

[Cloacogenic carcinoma]. / II carcinoma cloacogenico.

Four cases of cloacogenic carcinoma (CC) observed between 1982 and 1987 out of 175 operations performed in the same period for anorectal tumors are reported. All the patients underwent abdominoperineal resection; 3 of them are still alive at 16.30 and 42 months from surgery respectively. The fourth died for neoplastic diffusion after 12 months. Epidemiological, clinical and therapeutic features of this rare tumor are discussed.

[Primary adenocarcinoma of the jejunum arising in the anastomotic loop of a Roux-en-Y esophago-jejunostomy: a case report]. / Adenocarcinoma primitivo del digiuno insorto in ansa anastomotica di esofago-digiunostomia su ansa ad "Y" secondo Roux: descrizione di un caso.

The authors report a case of primary adenocarcinoma arising in the jejunal limb of a Roux-en-Y esophago-jejunostomy in a 76-years-old Caucasian woman. She was affected by esophageal achalasia and in another surgical department underwent gastric resection for adenocarcinoma 6 months before admission. A total gastrectomy performed was due to severity of achalasia symptoms conditioning a high degree of malnutrition. Two years after discharge the patient underwent surgery for total dysphagia, epigastric pain and inexorable weight loss. Histological response was adenocarcinoma of the long arm of Roux-en-y loop. Primary malignancies of the jejunum and ileum are extremely rare and many pathogenetic hypotheses were done but none of them received clinical or experimental demonstration. Symptoms are not specific and diagnosis is difficult and late, x-rays and endoscopy leading to it, US, CT and MNR are useful for differential diagnosis and staging. Prognosis is severe. Surgical therapy is large resection, if possible, but often it is only palliative.

[Leiomyosarcoma of the rectum]. / Il leiomiosarcoma del retto.

Two cases of leiomyosarcoma of the rectum observed between 1980 and 1990 are reported. Both patients underwent abdominoperineal resection: one is still alive at three years from surgery, whereas the other died for neoplastic diffusion after three years. Epidemiological, clinical and therapeutic features of this rare tumor are discussed.

[Biliary cystadenocarcinoma. A case report]. / Il cistoadenocarcinoma biliare. Descrizione di un caso.

The authors report a case of cystadenocarcinoma of the biliary tract, an uncommon tumor of the liver. A 68 aged white Caucasian jaundiced male subwent intervention for a tumor of the 4th hepatic segment. Forty-two months after discharge he is still alive without any secondary lesion. On the 16th follow-up month a prostatic malignancy was diagnosed. Differential diagnosis with other cystic lesion is an exacting and difficult target. Usual techniques such as US, CT, NMR infrequently get a correct diagnosis. Often only in surgical room a real diagnosis is achieved. In the aim to avoid tumor relapse the best surgical procedure is a large hepatic resection.