A new procedure for the quantitative analysis of extended x-ray absorption fine structure data in total reflection geometry.

A novel code for the analysis of extended x-ray absorption fine structure (EXAFS) data collected in total reflection mode (reflEXAFS) is presented. The procedure calculates the theoretical fine structure signals appearing in the reflectivity spectrum starting from the ab initio EXAFS calculations. These signals are then used in complex structural refinement (i.e., also including multiple scattering paths) with usual fitting programs of EXAFS data. A test case consisting in the analysis of a gold film collected at different incidence angles is presented in detail.

Primary retrorectal adenocarcinoma: report of a case.

Primary adenocarcinomas of the retrorectal (presacral) space are uncommon and usually arise from cystic lesions developing from remnants of the embryological postanal gut (tail gut cysts) containing mucous-secreting epithelium. A singular case of a patient who presented with a retrorectal mass is described. A 70-year-old previously healthy man had a four-month history of perianal pain during defecation. Preoperative colonoscopy showed external compression of the lower rectum with normal mucosa; pelvic computed tomography demonstrated a 5.5 x 4.5 cm(2) retrorectal oval mass, originating from the posterior lower rectal wall, containing cystic components and some small calcifications. The tumor, after complete resection via transanal approach, was shown to be a very rare case of primary adenocarcinoma of the presacral space. The patient had an uneventful postoperative course and he is free from disease 4 years after surgery. Clinicopathological features and surgical treatment of this unusual tumor are discussed.

Hypogonadism and pubertal development in Prader-Willi syndrome.

UNLABELLED: Genital abnormalities and disorders of pubertal development such as hypogonadism are common in Prader-Willi Syndrome (PWS). Depending on age, PWS patients present genital hypoplasia and delayed or incomplete gonadal maturation. Nevertheless, only a few evaluations have been made of these findings in this syndrome; in the cases previously reported the diagnosis of PWS has often been based only on clinical criteria and not confirmed by genetic analysis. In this paper we describe both external genital findings and spontaneous pubertal development in 84 patients aged from 2.1 to 35.4 (42 males, 42 females) affected by PWS. Diagnosis was made using the Holm and Cassidy criteria and was confirmed by genetic analysis (methylation test and/or FISH). We evaluated the presence of cryptorchidism, scrotal development, length of penis and volume of testis in males and outlook of labia minora and/or clitoris, age of menarche and features of menses (when present) in females; in both sexes we also evaluated the onset of puberty. All recruited males showed cryptorchidism, which was bilateral in 36 out of 42 patients (86%); 38 patients (90%) underwent orchidopexy. Small testes and scrotal hypoplasia were present in 76% and 69% of cases, respectively. In 76% of females, hypoplasia or absence of labia minora and/or clitoris was described. Spontaneous menarche occurred only in 14/32 cases (44%) over the age of 15 years, but menstrual cycles were often a periodical vaginal spotting. Primary amenorrhea was diagnosed in 56% of cases. Isolated premature pubarche was present in six males and in six females (14% of cases) while one male and two females were affected by precocious puberty (3.6%). CONCLUSION: Hypogonadism represents a common clinical feature in PWS, confirming the importance of such a major diagnostic criterion. Cryptorchidism was consistently present in all our cases. Patients with PWS commonly fail to spontaneously complete puberty, although some patients may have early pubarche or, more rarely, precocious puberty. In older subjects, hormonal replacement therapy is not always necessary and it must be reserved for selected patients.

Laparoscopic resection of calcifying fibrous pseudotumor of the gastric wall. A unique case report.

Calcifying fibrous pseudotumor (CFPT) is a recently described peculiar lesion characterized by the presence of abundant hyalinized collagen with psammomatous or dystrophic calcifications and a lymphoplasmacytic infiltrate. Initially, a few cases of CFPT were observed in the subcutaneous and deep soft tissues, especially at the level of the extremities, trunk, scrotum, groin, neck, and axilla; more recently, several cases have been reported in the pleura. We present a case of CFPT of the gastric wall. To our knowledge, this is the first such case to be described. A previously healthy 49-year-old woman presented with a 5-month history of epigastric pain after eating, early satiety, and weight loss. Gastroscopy revealed a polypoid lesion covered by normal mucosa along the great curvature of the gastric body. The patient was submitted to surgical treatment consisting of laparoscopic wedge resection of the gastric body. Histologic examination of the specimen disclosed CFPT affecting the wall of the gastrointestinal tract. The postoperative course was uneventful, and the patient was discharged from the hospital 5 days after surgery. The patient was free of disease 6 months after excision. Herein we discuss the clinicopathological features and surgical treatment of this most unusual case.

Body composition during GH treatment in Prader-Labhardt-Willi syndrome.

Prader-Labhardt-Willi syndrome (PLWS) is a model to study GH secretion, body composition and consequences of GH therapy. Twenty-seven patients were studied by dual-energy X-ray absorptiometry (DXA) and were each compared to two age- and sex-matched controls (obese and normal weight). Fat mass (FM) was significantly greater in PLWS than in patients with simple obesity; lean body mass (LM) and bone mineral content (BMC) were significantly lower compared to both controls. The peculiar body composition of PLWS patients seems to be similar to that found in GH deficiency. In six PLWS children treated with GH, LM increased after 6 months (p<0.02) up to 12 months (p<0.03); FM decreased in 5/6 patients. Obese adult PLWS patients treated with GH for 6 months showed a reduction in adiposity; LM increased significantly only in the leg compartment. Abdominal CT scan did not show a significant reduction of intrabdominal fat area. In conclusion, GH therapy might improve final stature and exert a positive influence on body composition in patients with PLWS.

[Prader-Willi syndrome]. / La sindrome di Prader-Willi.

Prader-Willi syndrome (PWS) is the most frequent cause of secondary obesity, characterized by neonatal hypotonia, dysmorphic facies, acromicria, hypogonadism, stunted growth, obesity, behavioural disturbances and cognitive impairment. Clinical diagnosis is confirmed by alteration of imprinted genes on the proximal long arm of chromosome 15 (15q11-13) for deletion, translocation, uniparental disomy for maternal chromosome 15 or imprinting center defect. Methylation test is the most reliable test for diagnosis. This issue explains diagnostic tests, clinical, metabolic, endocrinological features, and the most frequent complications observed in this syndrome. Precocious diagnosis and multidisciplinary approach allow in these patients to prevent the severe obesity and linked complications.

Impairment of growth hormone responsiveness to growth hormone releasing hormone and pyridostigmine in patients affected by Prader-Labhardt-Willi syndrome.

In order to evaluate the impairment of GH response in patients affected by Prader-Labhardt-Willi (PLW) syndrome, in 18 patients we studied GH response to clonidine and to GHRH + pyridostigmine, a cholinergic drug which enhances GHRH induced GH responsiveness in obese patients. After clonidine GH response was abnormal in 14/18 subjects (mean GH peak: 4.1 +/- 1.3 micrograms/l; area under curve: 208.1 +/- 74.2 micrograms/l.h) while all but 5 patients showed an inadequate GH response to GHRH + pyridostigmine (mean GH peak: 13.4 +/- 2.5 micrograms/l; area under curve: 903.4 +/- 171.0 micrograms/l.h). However, in the three patients with low adiposity index, GH response to GHRH + pyridostigmine was significantly higher than that observed in fatter subjects. In addition, GH response to GHRH + pyridostigmine was negatively correlated to age and adiposity index. In conclusion, our data are consistent with the hypothesis of the existence of a complex derangement of GH neuroendocrine regulation in these subjects.

[The role of magnetic resonance angiography in the assessment of arterial stenosis in the transplanted kidney]. / Ruolo dell'angiografia con Risonanza Magnetica nella valutazione delle stenosi dell'arteria del rene trapiantato.

Artery stenosis in the transplanted kidney is the most frequent vascular complication; hypertension onset or worsening may be associated and, at an end stage, also renal insufficiency. The diagnosis must be early and accurate and provide guidelines for medical, interventional or surgical therapy. To assess the diagnostic reliability or MRA, 27 patients were examined. On the basis of clinical, biochemical, pharmacological (Captopril test) and instrumental (color-Doppler US) examinations, the artery of the transplanted kidney was considered normal in 6 patients and stenotic in 21. In the control group, MRA results were in agreement with color-Doppler findings. On the contrary, in 8 of 21 abnormal conditions, the two techniques were in disagreement. Digital angiography, considered as the gold standard, was performed in any questionable case, confirming a slight overestimation of the stenoses by MRA (3 cases) and 2 false positives by color-Doppler US. The authors believe color-Doppler US to be a reliable technique for screening stenosed arteries in the transplanted kidney. MRA is proposed as a complementary investigation useful to define stenosis type and to provide guidelines for treatment.

Surgery for obstructive lesions of the main trunk of the renal artery. A review of the literature and personal experience of 41 operated patients.

Today, surgical revascularization of the renal artery seems to maintain interest in the therapy of renovascular hypertension and chronic ischemic nephropathy because both medical therapy and angioplasty show limits and inconveniences. The authors present here their experience of 45 revascularized renal arteries in 41 patients and they discuss early and late morphological and functional results related to isolated arterial renal pathology (Group 1 of 23 patients) and associated to aorto-iliac pathology (Group 2 of 18 patients). Mortality related to arterial renal reconstruction was nil. There were 3/45 arteries (6.6%) with early thromboses and 4/32 (9.3%) with late thromboses. Early functional results, with respect to renovascular hypertension and/or chronic ischaemic renal insufficiency, showed 16/41 (39%) healed patients, 16/41 (39%) improved patients and 9/41 (22%) unvariated patients. Late results among 28 observed patients (average follow up at 49 months, range from 18 to 144 months) showed 14/28 (50%) healed patients, 11/28 (39%) improved patients and 3/28 (11%) unvariated patients. Results of the Group I were significantly better than results of Group 2 with regards to healed patients (p < 0.01) but not summarizing healed and improved cases. These data have been discussed in comparison with the Literature review of 46 references.