Pathophysiology and Nutritional Approaches in Polycystic Ovary Syndrome (PCOS): A Comprehensive Review.

PURPOSE OF REVIEW: Polycystic ovary syndrome (PCOS) is the most common endocrine and metabolic disorder in women of reproductive age worldwide. This disease causes menstrual, metabolic, and biochemical abnormalities such as hyperandrogenism, oligo-anovulatory menstrual cycles, polycystic ovary, hyperleptinemia, insulin resistance (IR), and cardiometabolic disorders, often associated with overweight or obesity and visceral adiposity. RECENT FINDINGS: The etiology and pathophysiology of PCOS are not yet fully understood, but insulin seems to play a key role in this disease. PCOS shares an inflammatory state with other chronic diseases such as obesity, type II diabetes, and cardiovascular diseases; however, recent studies have shown that a healthy nutritional approach can improve IR and metabolic and reproductive functions, representing a valid therapeutic strategy to ameliorate PCOS symptomatology. This review aimed to summarize and collect evidence about different nutritional approaches such as the Mediterranean diet (MedDiet) and the ketogenic diet (KD), as well as bariatric surgery and nutraceutical supplementation as probiotics, prebiotics, and synbiotics, among the others, used in patients with PCOS.

Spontaneous transdiaphragmatic intercostal hernia: clinical considerations and management.

Most diaphragmatic ruptures are due to the traumatic or penetrating injury, while the spontaneous diaphragmatic rupture is considered uncommon. The spontaneous transdiaphragmatic hernia is a consequence of violent coughing, vomiting that increase the thoracoabdominal pressure causing the diaphragmatic rupture. Even rarer is the concomitant prolapse of abdominal viscera into the thoracic subcutis through the chest wall, a condition known as spontaneous transdiaphragmatic intercostal hernia. Herein, we present a rare case of spontaneous transdiaphragmatic intercostal hernia presenting as a thoracoabdominal emergency.

Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. Both phenotypes are characterized by significant global developmental delay/intellectual disability, hypotonia, genital abnormalities, and patellar hypoplasia/agenesis. In addition, congenital heart defects, dental abnormalities, hearing loss, and thyroid anomalies are common to both phenotypes. This broad clinical overlap led some authors to propose the concept of KAT6B spectrum disorders. On the other hand, some clinical features could help to differentiate the 2 disorders. Furthermore, it is possible to establish a genotype-phenotype correlation when considering the position of the sequence variant along the gene, supporting the notion of the 2 disorders as really distinct entities.

Toll-like receptor kinetics in septic shock patients: a preliminary study.

The aim of this study is to evaluate some inflammatory parameter changes in septic shock patients and their possible correlation with clinical outcome, in particular when continuous veno-venous hemofiltration (CVVH) treatment is required. Considering the objective difficulty in enrolling this kind of patient, a preliminary study was initiated on seventeen septic shock patients admitted to a medical and surgical ICU. The mRNA expression of Toll-like receptor (TLR)-1, TLR-2, TLR-4, TLR-5, TLR-9, TNFα, IL-8 and IL-1ß was assessed, the plasmatic concentrations of IL-18, IL-2, IL-10 and TNFα were measured on the day of sepsis diagnosis and after 72 h. In those patients who developed acute renal failure unresponsive to medical treatment and who underwent CVVH treatment the same parameters were measured every 24 h during CVVH and after completion of the treatment. On sepsis diagnosis, gene expression of TLRs was up-regulated compared to the housekeeping gene in all the patients. After 72 h, in 35% of the patients a down-regulation of these genes was found compared to day 1, but it was not associated with a reduction of cytokine serum levels or improved clinical signs, better outcome or reduced mortality. After high volume hemofiltration treatment, cytokine serum levels and TLR expression were not significantly modified. In conclusion, considering the not numerous number of cases, from our preliminary study, we cannot certainly correlate TLR over-expression in septic shock patients with severity or outcome scores.

Mesenteric fibromatosis. Case report.

Deep fibromatosis is a rare locally aggressive but not metastasizing proliferation. Intra-abdominal fibromatosis (IAF) occurs either in association with Gardner's syndrome or as a sporadic event and presents in most cases differential diagnostic problems with myofibroblastic or fibroblastic tumors, characterized by a more aggressive biological behaviour such as gastrointestinal stromal tumors (GISTs). In absence of loco-regional and/or distant metastasis differential diagnosis may be difficult and represents a topical issue, since it influences treatment choice. We describe the case of a patient with sporadic IAF in which the tumor locally involved the mesentery and presented no loco-regional and distant spread. On histology, some morphological features of the neoplasm were in common with a GIST. Definitive diagnosis was made, postoperatively, on the basis of immunohistochemical findings.

Intra-abdominal hypertension is not reliable as an early predictor of mortality in the intensive care unit.

AIM: The aim of this study was to assess the prevalence of intra-abdominal hypertension and its prognostic value in critical patients. METHODS: In an observational study, 56 patients of a multidisciplinary intensive care unit (ICU) of a university hospital, with either surgical (44.6%) or medical (55.4%) diagnoses, were studied. Intra-abdominal pressure was quantified daily by bladder pressure method from the first to the eighth day of hospitalization. RESULTS: The mean intra-abdominal pressure at admission was 9.97+/-5.26 mmHg; 41% of patients suffered moderate intra-abdominal hypertension (defined as intra-abdominal pressure greater than 11 mmHg) at admission. On day 1 mean intra-abdominal pressure was not significantly different between the patients who died and those who survived (9.69+/-5.06 mmHg vs 10.12+/-5.57 mmHg respectively), but by measuring IAP until day 8 it was possible to distinguish a subgroup of patients who showed a persistently elevated intra-abdominal pressure, developed further complications, later died (12.5+/-4.37 mmHg vs 7.17+/-2.02 mmHg, P=0.022). CONCLUSION: Intra-abdominal pressure does not have prognostic value at ICU admission, but may predict bad outcomes later during the ICU stay. Intra-abdominal hypertension is a frequent and rarely recognized event in the ICU which can be monitored by the bladder pressure method throughout the period of hospitalization.

Merkel cell carcinoma: experience of 14 cases and literature review.

Merkel cell carcinoma is an aggressive skin cancer, with a significant incidence of locoregional lymphnode involvement, which requires timely diagnosis, adequate staging and aggressive therapy based essentially on surgical procedures. The aim of this study is to report our experience and to compare our results with literature findings, in order to discuss the role of the procedures adopted and their influence on prognosis. From July 1995 to April 2005, 14 patients were treated and followed-up for MCC in the National Cancer Institute of Naples. Tumor location was: buttocks (43%), extremities (36%) head (7%), unknown (14%). There were 7 Stage I, 5 Stage II and 2 Stage III patients. Surgical treatment consisted in wide excision (WE) in Stage I cases, WE and regional lymphadenectomy followed by radio- or chemo-therapy in Stage II and combined surgical and pre- and post-operative medical treatments in Stage III. Overall disease specific survival rate was 64% (median follow up 44 months). Recurrence occurred in 86% of Stage I and 20% of Stage II patients and involved, in 83.3% of Stage I patients, the lymph nodal draining basin. The treatment of recurrence implied surgery and radio or radiochemotherapy. Overall survival rate of recurrent patients was 57% (median follow-up 37.2 months). Due to the particular lymphotrophism of MCC, major care should be set on investigation and treatment of tumor lymph nodal draining basin. As long as the disease remains surgically manageable the prognosis for patients with MCC is favourable. The role of radio and chemotherapy is not yet assessed.

Intraoperative radiofrequency ablation: intraductal cooling of the main bile ducts for the prevention of heat damage. A case report.

Intraoperative radiofrequency (RF) ablation has recently become a valid procedure in the treatment of liver primary or secondary malignancies in selected cases. This procedure can be used alone or in association with surgery in treating lesions not considered for curative surgery. Heat damage of the main bile ducts represents nowadays a limitation in the use of radiofrequency ablation of hepatic lesions. Up to now, in tumors proximal to a main bile duct or to the biliary bifurcation this procedure has been contraindicated. In order to preserve these structures from heat damage, a new technique consisting of intraductal cooling of the bile ducts has recently been introduced. We report a case of successful experience with this technique.

[Isolated resection of the caudate lobe in metastasis of colorectal cancer]. / Resezione isolata del lobo caudato per metastasi da cancro colorettale.

The presence of metastatic lesions confined to the caudate lobe (CL or segment I) is quite a rare event. Even more rare is the decision to perform an isolate CL resection. Segmental resection in the liver is justified by the evidence that primary and secondary lesions, in early stage, are confined to the originating segment, and therefore a segmentectomy can be considered for the CL as well. Anatomy of the CL was deeply studied through the years since the surgical approach to this liver segment requires a detailed knowledge of its surgical anatomy and only after 1985 the surgical technique for CL isolate resection was established. We report our experience with 1 case of isolate colo-rectal metastasis confined to the caudate lobe and describe the surgical technique employed.

[Histophenotypical variants of squamous cell carcinoma of the skin]. / Varianti istofenotipiche di carcinoma squamocellulare della cute.

Cutaneous squamous cell carcinoma (SCC) is, in its most frequent presentation, a moderately aggressive neoplastic disease. It can, however, present in a moltitude of clinico-pathological variants, some of which are characterized by a more malignant attitude. It is important to determine which tumors, among the various histophenotypes, are high risk in order to establish the appropriate treatment and follow-up. Histologic subtype has been considered as a possible variable in determining the prognosis of cutaneous SCC. We report our experience with 3 cases of peculiar variants of cutaneous SCC.

[Role of lymphadenectomy in the treatment of Merkel-cell tumors in i and ii stages]. / Ruolo della linfoadenectomia nel trattamento del tumore a cellule di merkel in stadio i e ii.

Merkel cell carcinoma (MCC) is a rare, malignant skin cancer, exhibiting neuroendocrine differentiation, with a significant incidence of locoregional lymph nodal involvement (40%-73%). The accepted staging system classifies MCC as: stage I, localized skin disease; stage II, regional lymph node disease; stage III, metastatic disease. The clinical differentiation of stage I and II patients is difficult and understaging is frequent. Surgery, as first approach, represents the leading treatment for this neoplasm and, depending on stage consists in: local wide excision for stage I patients and local excision and lymphadenectomy for stage II. In our experience, lymphadenectomy, included in the initial treatment of all stage II patients, seemed to influence positively the prognosis. In comparing stage related recurrence and survival rates the results we obtained were better in stage II patients, where lymphadenectomy was included in the initial treatment than in stage I subjects, who received local excision alone as first treatment and lymphadenectomy as secondary treatment for nodal recurrence (overall recurrence rate 86% vs 20%, survival rate 71% vs 80% in stage I vs stage II patients). The performance of lymphadenectomy for stage I MCC could be reconsidered both for a more reliable staging of the disease and for a positive impact on recurrence and survival rates.

Pancreaticoduodenectomy for pancreatic metastatic melanoma.

Isolated pancreatic metastatic melanoma is a rare occurrence. Even more rare is the surgical treatment of this lesion. However, considering the lack of effective systemic treatment and the decreasing morbidity and mortality rates of pancreatic resections in specialized centers, selected patients, especially if symptomatic, may be considered for surgical resection to achieve good palliation or improve survival. We performed a pancreaticoduodenectomy in a patient with a bleeding pancreatic metastasis from cutaneous melanoma excised 10 years before and reviewed the recent literature.

[The modified "hanging maneuver" during orthotopic liver transplantation using a technique for conserving the inferior vena cava]. / Manovra di "hanging" modificata durante trapianto ortotopico di fegato con tecnica di conservazione della vena cava inferiore.

We describe a modification of Belghiti's "liver hanging maneuver" applied to the last phase of hepatectomy during OLT with IVC preservation. The proposed maneuver provides a better exposition of the suprahepatic veins allowing an ortogonal clamping of the suprahepatic confluence and avoiding caval clamping. It allows, moreover, an increase of venous surface available for the anastomosis that results wider and easier to perform. This provides a large outflow anastomotic cloaca and prevents outflow problems of the graft.

[Acute liver toxicity of antiretroviral therapy (HAART) after liver transplantation in a patient with HIV-HCV coinfection and associated hepatocarcinoma (HCC)]. / Tossicità epatica acuta da terapia antiretrovirale (HAART) dopo trapianto di fegato in un paziente con coinfezione da HIV-HCV ed associato epatocarcinoma (HCC).

OLT in HIV infected patients still remains a challenging option requiring a careful monitoring of patients for HCV reinfection, drug interactions and antiretroviral toxicity. Severe adverse events due to HAART have been already reported for post exposure prophylaxis in HIV infected patients. Here we report a case of liver graft toxicity related to HAART in a HIV-HCV co-infected patient (46 yrs-male) with associated a small HCC transplanted with a marginal liver graft. The patient had pre-OLT plasma HIV 1-RNA levels undetectable and CD4+ T-cell count of > 200 cells/microL for 6 months. At day 2 a severe graft dysfunction was observed (AST 1570 U/L, ALT 2180 U/L, BIL tot 8.3 mg/dL, BIL Dir 6.6 mg/dL and PT 35%--INR 2.5). Doppler scan showed hepatic artery always patient. Later the postoperative in-hospital course was complicated by tense ascites and severe cholestasis. Serum bilirubin reached 42 mg/dL in day 12. Hypertransaminasemia ended at day 15 while cholestasis ended after 46 days. Tacrolimus was reintroduced at day 7. A liver biopsy 10 after OLT showed severe intrahepatic cholestasis, centrolobular necrosis and macrovesicular steatosis (30%). The patient was discharged 48 days after OLT with good liver function. After seven months HIV-RNA is still undetectable and HAART has not been restarted. We believe that the early complications we observed may be attributed to a sudden increase in plasma concentration of antiretroviral drugs secondary to drug redistribution from peripheral tissues and hepatic clearance deficiency after OLT. Although a pre-OLT withdrawal of HAART seems unjustified a delayed re-introduction of HAART or the use of less hepatotoxic drugs may be advisable.

Adrenal glands metastases from malignant melanoma. Laparoscopic bilateral adrenalectomy.

Adrenal metastases from Malignant Melanoma (MM) represent a debated therapeutical problem particularly in the case of disseminated disease. Surgical treatment, however, seems to be able to provide improvement on survival. Laparoscopic adrenalectomy is considered a gold standard procedure in benign adrenal disease but its value in malignancy, in terms of oncological effectiveness, is not known. A case of bilateral adrenal malignant melanoma metastases is reported. The patient, affected by superficial spreading melanoma of the right foot, eleven years after the primary developed a right adrenal metastasis. The relapse was treated by laparoscopic right adrenalectomy. One year later the patient had a new metastasis in the left adrenal gland and was submitted to laparoscopic left adrenalectomy. The two step laparoscopic bilateral adrenalectomy showed to be quite easy to perform, providing a complete removal of the whole glands, without adrenal tissue crushing and without neoplastic tissue dissemination in abdominal cavity. The postoperative course was excellent and the patient was discharged within about 72 hours after the two procedures. In literature only few reports indicate the feasibility of laparoscopic adrenalectomy for malignancy. In the reported case of malignant melanoma metastasis, minimally invasive adrenalectomy was very satisfactory and the good results obtained suggest its routine use.

Resection and transplantation: evaluation of surgical perspectives in HIV positive patients affected by end-stage liver disease.

PURPOSE: The aim of this study was to evaluate the opportunity of surgical treatment in terms of liver resection or liver transplantation in HIV positive patients affected by an end stage liver disease that referred to our liver unit. METHODS: Among 1350 outpatients who referred to our liver unit from January 2002 to September 2003, thirty-two (2,4%) were HIV positive. The routes of transmission of the viral infection, the related co-infections and the underlying liver disease were recorded. The therapeutic pathway was analysed. The kind and the duration of the surgical procedures were assessed. RESULTS: Fourteen (44%) of these thirty-two patients were not suitable for surgical treatment. Surgery was planned in 9 of 32 HIV positive patients (28%). Four patients (12%) were submitted to liver resection and OLT was performed in five patients (15%). Hepatocellular Carcinoma was present in 4 (44%) of the HIV positive patients considered for surgery. CONCLUSIONS: In conclusion in our centre the 28% of HIV positive out patients had the opportunity to receive a surgical treatment. The candidate to this surgery is mostly young, HCV and/or HBV coinfected and affected by HCC in 44% of cases.

[False-positive cultures due to cross contamination in tuberculosis laboratories]. / Falsos cultivos positivos por contaminación cruzada en laboratorios de tuberculosis.

Fifteen episodes of Mycobacterium tuberculosis laboratory cross-contamination suspected between 1996 and 2001 at 6 laboratories in Buenos Aires City and suburbs were investigated by IS6110 RFLP. Thirteen episodes were confirmed. Even though BACTEC 460 produced the highest number of confirmed episodes in a single laboratory, the most extended one occurred while employing conventional culture procedures in solid medium. The double repetitive element-polymerase chain reaction (DRE-PCR) was applied to 8 of these episodes and produced concordant results with those of the RFLP. The DRE-PCR appears to be a valuable tool for the prompt identification of false positive cultures. The timely rectification of defects in laboratory protocols can avert false diagnoses of tuberculosis and unnecessary prolonged treatments.

Falsos cultivos positivos por contaminación cruzada en laboratorios de tuberculosis / False-positive cultures due to cross contamination in tuberculosis laboratories

Fifteen episodes of Mycobacterium tuberculosis laboratory cross-contamination suspected between 1996 and 2001 at 6 laboratories in Buenos Aires City and suburbs were investigated by IS6110 RFLP. Thirteen episodes were confirmed. Even though BACTEC 460 produced the highest number of confirmed episodes in a single laboratory, the most extended one occurred while employing conventional culture procedures in solid medium. The double repetitive element-polymerase chain reaction (DRE-PCR) was applied to 8 of these episodes and produced concordant results with those of the RFLP. The DRE-PCR appears to be a valuable tool for the prompt identification of false positive cultures. The timely rectification of defects in laboratory protocols can avert false diagnoses of tuberculosis and unnecessary prolonged treatments.

Falsos cultivos positivos por contaminación cruzada en laboratorios de tuberculosis / False-positive cultures due to cross contamination in tuberculosis laboratories

Fifteen episodes of Mycobacterium tuberculosis laboratory cross-contamination suspected between 1996 and 2001 at 6 laboratories in Buenos Aires City and suburbs were investigated by IS6110 RFLP. Thirteen episodes were confirmed. Even though BACTEC 460 produced the highest number of confirmed episodes in a single laboratory, the most extended one occurred while employing conventional culture procedures in solid medium. The double repetitive element-polymerase chain reaction (DRE-PCR) was applied to 8 of these episodes and produced concordant results with those of the RFLP. The DRE-PCR appears to be a valuable tool for the prompt identification of false positive cultures. The timely rectification of defects in laboratory protocols can avert false diagnoses of tuberculosis and unnecessary prolonged treatments.(AU)