Nail-patella syndrome: report of 11 pediatric cases.

BACKGROUND: Nail-patella syndrome (NPS) is an inherited disease produced by mutations in the LMX1B gene. It is characterized by fingernail dysplasia, hypoplastic or absent patella, dysplasia of the elbows and iliac horns on X-ray. It is useful to know this syndrome since some patients develop nephropathy and eye abnormalities. There are very few accurate descriptions related to this syndrome in the literature. OBJECTIVE: Describe the features of 11 patients with NPS in a paediatric hospital. METHODS: We retrospectively reviewed our clinical database of 11 patients with proven diagnosis of NPS from 1977 to 2014. Clinical and radiological features were assessed. RESULTS: Eleven children (seven male/four female) were included in the study. Mean age at the time of diagnosis was 6.54 years (range 0-11 years). Five patients had a family history of NPS. All patients had nail abnormalities (100%), the most frequent finding being hyponychia. Triangular lunulae were observed in four patients. The knee was the most commonly affected joint, aplasia or hypoplasia of the patella being the most usual findings. Only one patient presented renal involvement. The genetic study revealed three different LMX1B mutations. CONCLUSION: Nail-patella syndrome is a rare disorder. The aim of the present study is to highlight the importance of nail examination in children with skeletal dysplasias, in order to diagnose the NPS.

Childhood rhabdomyosarcoma. / Rabdomiosarcoma infantil.

Rhabdomyosarcoma is the most common soft-tissue sarcoma in children; it can appear in any part of the body. Its biological behavior varies widely, and despite the absence of specific clinical or radiological characteristics, rhabdomyosarcoma should be taken into account in the differential diagnosis of solid tumors in children. This review focuses primarily on the imaging findings and anatomical distribution of the histological subtypes of childhood rhabdomyosarcoma and secondarily on the differential findings in histological studies.

Trans-resveratrol concentrations and antimutagenic potential of juice from the grape cultivars Vênus, BRS Violeta and Isabel.

Grape juice, in addition to being an energetic food, due to its high sugar content, has several compounds that can prevent or treat various types of diseases. Resveratrol is a compound present in grapes that has attracted a lot of interest; in addition to preventing cardiovascular disease linked to lipid metabolism, it has chemopreventive and chemotherapeutic activities. We evaluated the antimutagenic activity and determined the trans-resveratrol content in grape juice from the varieties Vênus, BRS Violeta and Isabel. The grape juices from the three cultivars and the resveratrol solution were tested in the methG1 system in Aspergillus nidulans. The conidia from the biA1methG1 strain were treated for 4 h in 10% grape juice (v/v). After washing, the conidia were placed in selective media to analyze survival and mutations. The standard resveratrol solution and the grape juice of the cultivar Isabel, both with a trans-resveratrol content of 1 mg/mL, presented antimutagenic potential in this test system because the frequency of mutation of the treatments was significantly lower than the frequency of spontaneous mutation. However, grape juice from the varieties Vênus and BRS Violeta, both with a lower quantity of trans-resveratrol, gave weak antimutagenic activity in this test system because the frequency of mutation of the treatments was significantly higher than the frequency of spontaneous mutation.

Solar photo-Fenton and persulphate-based processes for landfill leachate treatment: A critical review.

Landfilling is the most usual solid waste management strategy for solid residues disposal. However, it entails several drawbacks such as the generation of landfill leachate that seriously threaten human life and the environment due to their toxicity and carcinogenic character. Among various technologies, solar photo-Fenton and sulphate-based processes have proven to be suitable for the treatment of these polluted streams. This review critically summarises the last three decades of studies in this field. It is found that the solar homogeneous photo-Fenton process should be preferably used as a pre- and post-treatment of biological technologies and as a standalone treatment for young, medium, and mature leachates, respectively. Studies on heterogeneous solar photo-Fenton process are lacking so that this technology may be scaled-up for industrial applications. Sulphate radicals are attractive for removing both COD and ammonia. However, no study has been reported on solar sulphate activation for landfill leachate treatment. This review discusses the main advances and challenges on treating landfill leachate through solar AOPs, it compares solar photo-Fenton and solar persulphate-based treatments, indicates the future research directions and contributes for a better understanding of these technologies towards sustainable treatment of landfill leachate in sunny and not-so-sunny regions.

[MDCT patterns of presentation of pancreatic metastases from renal cell carcinoma]. / Presentación radiológica mediante TCMD de las metástasis pancreáticas del carcinoma de células renales.

OBJECTIVE: To determine the frequency of pancreatic metastasis from renal cell carcinoma in patients studied with MDCT during 2007 and to describe the patterns of presentation on MDCT. MATERIAL AND METHODS: We retrospectively studied 133 patients with renal cell carcinoma who underwent MDCT between January and December 2007. Forty-nine patients presented disseminated disease. We analyzed the frequency, location, and patterns of presentation of pancreatic metastases. RESULTS: Pancreatic involvement was identified in six patients. Four patients had isolated pancreatic nodules and two presented multiple nodules. A total of nine pancreatic lesions ranging between 8mm and 40 mm were detected. All nodules had increased uptake of contrast material in the arterial phase except for one in a patient with multiple nodules, due to necrosis. Two cases were associated with pancreatic duct dilation. Histology was obtained in only one patient. CONCLUSION: Pancreatic involvement of renal cell carcinoma was detected in 4.5% of patients, ranking fifth in frequency in patients with disseminated disease. The arterial phase is necessary to detect pancreatic involvement of renal cell carcinoma. The pattern of presentation is nearly constant, helping differentiate pancreatic metastasis from primary pancreatic adenocarcinoma.

[Analysis of psychological factors influencing peritoneal dialysis selection]. / Análisis de la influencia de los factores psicológicos en la elección de diálisis peritoneal.

BACKGROUND: Peritoneal dialysis (PD) is not frequently used in our setting. OBJECTIVE: To analyze the psychological factors involved in the choice of renal replacement therapy (RRT). MATERIAL AND METHODS: A prospective observational study of stable patients without cognitive or sensory deficits who were informed about RRT from January 2004 to July 2006 and agreed to participate. The patients were given and completed the Beck Depression Inventory and the Eysenck personality questionnaire. Clinical and sociodemographic data and RRT choice were recorded. End of follow-up: 2007/10/31. RESULTS: 44 patients were studied: age, 65.4 +/- 13.1 years, 48% male, 34% diabetic. When choosing RRT, 36% of patients had symptoms of depression. Neither depression symptoms nor personality traits were related to the choice of dialysis type. The youngest patients chose PD (41%). After a mean followup of 8 +/- 8 months, 70% of patients started RRT (68% haemodialysis [HD], 32% PD). None of the patients who chose HD changed their mind, but 3 of the 13 patients (23%) who chose PD finally commenced HD, usually in the context of a worsening of the disease. Half of the patients with depression symptoms when choosing PD and a third of the patients with higher levels of neuroticism changed their decision and finally opted for HD. CONCLUSIONS: When choosing RRT, the prevalence of depression symptoms is high. Neither depression nor personality traits influenced the initial choice of RRT, although these factors may be involved in subsequent changes to the decision.

Letter to editor: Surgical-site infection following lymph node excision indicates susceptibility for lymphedema: A retrospective cohort study of malignant melanoma patients.

Following the reading of the original article "Surgical-site infection following lymph node excision indicates susceptibility for lymphedema: A retrospective cohort study of malignant melanoma patients", the authors reviewed the literature for the discussed therapeutic value of complete lymph node dissection (CLND), the major complications and the current treatment for lymphedema. The authors also share their experience and protocol for CLND, and treating lymphedema using lymph node flap transfer and multiple lymphatic-venous anastomoses.

Laparoscopic Splenectomy: Postero-Lateral Approach.

In paediatric population, the laparoscopic splenectomy has been preferred to the open surgery during the last years. Due to the improvement of the technique and the devices, the indications to the laparoscopic splenectomy have been increased, even though there is still a variety of conditions in which the execution of this technique is arduous. During the preoperative consult there is the need to carefully evaluate the existence of cholecystic lithiasis, the haemoglobin level in patients with SCA, platelet count in children with ITP and the vaccination status. An anterior and a lateral or hanging spleen approach are primarily used for laparoscopic splenectomy. In the last four years, near the Section of Pediatric Surgery of the Department of Pediatrics, Obstetrics and Medicine of the Reproduction of Siena University, 8 cases of splenomegaly have been treated, 7 by lateral videolaparoscopic splenectomy (5 males and 2 females, with medium age of 10,5 years) and 1 by anterior approach (10 years). The advantages shown by these techniques allow the laparoscopic splenectomy to be considered as a valid alternative to the open surgery. In children's laparoscopic splenectomy, the rate of complications is considerably low and the the major problem is the intraoperative hemorrhage. With increasing surgical experience, the minimally invasive approach appears to be superior in terms of faster postoperative recovery, shorter hospital stay, perioperative and postoperative advantages. Therefore, the laparoscopic technique may soon be accepted as the standard method in patients requiring splenectomy.

Congenital Cystic Adenomatoid Malformation of the Lung Tipe II: Three Cases Report.

Congenital cystic adenomatoid malformation (CCAM) is a rare congenital lung lesion. It may appear since birth (30-35%) with difficulty breathing or may have a late onset (60-65%) with recurring pulmonary infections or growth failure; in a small percentage of cases, the lesion can be completely asymptomatic. Fetal or post-natal surgery can be used as surgical treatment of these lesions. Postnatal surgery consists of a lobectomy, bilobectomy or pneumonectomy, based on the size of the lesion. The best age to undergo this surgery is around 2 years, but only if the injury is stable and the child has no complications. The study describes three cases of CCAM, observed at the Pediatric Surgery Section of the University of Siena. We analyzed those 3 cases whose approach was defined by the onset of symptoms, age and clinical condition of patients. In the first case the surgery was performed a few hours after birth due to the worsening of the clinical conditions; in the other two cases it was delayed because the patients were asymptomatic. The purpose of this study is to review the management of patients with CCAM in relation to clinical onset and the type of injury.

Pre and Post-Operative Ph-Metry in Videolaparoscopic Surgery for Gastro Oesophageal Reflux Disease.

Gastro-oesophageal reflux is common in children, especially in the first year of life, and it may be regarded as physiological. Good functioning of the lower oesophageal sphincter depends largely on the anatomical relationships between oesophagus, stomach and diaphragm hiatus. Relative immaturity of these structures in newborn babies and young children is a risk factor in reflux disease, which may result in a wide variety of typical and/or atypical symptoms and, sometimes, serious complications such as oesophagitis and stenosis. Reflux disease may be diagnosed and studied, basing on morphological and functional aspects and, since the advent of pH-metry, it is possible to personalise the therapeutic approach to children with reflux. Surgical treatment of reflux disease in children has recently been improved due to a mini-invasive surgical approach. Absolute indications are recurrent pneumonia, intractable pain due to oesophagitis and retarded growth, often in association with neurological impairment. In the last three years, 18 children with reflux disease underwent videolaparoscopic surgery in our department, 14 by the Nissen and 4 by the Toupet technique. Post-operative pH-metry always showed a reduction in exposure of the distal oesophagus to acid (integral of H+) and an improvement in oesophageal clearance (short refluxes percentage) indicative of good functioning of the gastro-oesophageal junction. PH-metry proved to be an invaluable technique for planning therapeutic strategy. In follow-up evaluations, it enabled us to monitor functioning of the gastro-oesophageal junction and to avoid other more difficult and invasive tests in patients with severe neurological impairment.

N6L pseudopeptide interferes with nucleophosmin protein-protein interactions and sensitizes leukemic cells to chemotherapy.

NPM1 is a multifunctional nucleolar protein implicated in several processes such as ribosome maturation and export, DNA damage response and apoptotic response to stress stimuli. The NPM1 gene is involved in human tumorigenesis and is found mutated in one third of acute myeloid leukemia patients, leading to the aberrant cytoplasmic localization of NPM1. Recent studies indicated that the N6L multivalent pseudopeptide, a synthetic ligand of cell-surface nucleolin, is also able to bind NPM1 with high affinity. N6L inhibits cell growth with different mechanisms and represents a good candidate as a novel anticancer drug for a number of malignancies of different histological origin. In this study we investigated whether N6L treatment could drive antitumor effect in acute myeloid leukemia cell lines. We found that N6L binds NPM1 at the N-terminal domain, co-localizes with cytoplasmic, mutated NPM1, and interferes with its protein-protein associations. N6L toxicity appears to be p53 dependent but interestingly, the leukemic cell line harbouring the mutated form of NPM1 is more resistant to treatment, suggesting that NPM1 cytoplasmic delocalization confers protection from p53 activation. Moreover, we show that N6L sensitizes AML cells to doxorubicin and cytarabine treatment. These studies suggest that N6L may be a promising option in combination therapies for acute myeloid leukemia treatment.

[Anesthesia for vitreoretinal surgery using a retrobulbar catheter technique]. / Anestesia en cirugía vitreorretiniana utilizando un catéter retrobulbar.

OBJECTIVE: To evaluate peroperative pain management using a flexible spinal anesthesia catheter introduced into the retrobulbar space which allows injections of local anesthetics for vitreoretinal surgery. METHODS: Twenty-five patients who underwent vitreoretinal surgery receiving retrobulbar anesthesia with 3.5 ml ropivacaine 0.75%. After injection, a catheter with spinal needle 22G x 1 1/2 (40 x 0.7 mm) was introduced to the retrobulbar muscle cone. The needle was withdrawn and the catheter was fixed. When the patient started to feel pain (grade 3 or higher), 2 ml ropivacaine 0.75% was administrated through the catheter during surgery or 2 ml ropivacaine 0.2% in the postoperative period. The catheter was removed 24- 48h later. RESULTS: During surgery, 1 patient (4%) received a re-injection of 2 ml ropivacaine 0.75% because of pain. Three patients (12%) experienced pain of grade 3 or higher in the postoperative period and needed re-injection of 2 ml ropivacaine 0.2%. Re-injections were an effective method to achieve analgesia. Adverse effects were not noticed. CONCLUSIONS: The retrobulbar catheter technique is a procedure which allows multiple re-injections of local anesthetics; it provides adequate analgesia during surgery and rapid, effective and safe postoperative pain management.

Tumoración esternal benigna autolimitada, un diagnóstico para tener en cuenta / Self-limiting benign sternal tumor, a diagnosis to consider

La aparición de tumoraciones en Pediatría es una causa de gran angustia familiar. En concreto, las masas esternales son entidades poco frecuentes pero que se deben conocer. Presentamos el caso de un paciente con aparición súbita de una tumoración a nivel esternal. Tras realizar anamnesis y exploración física se llevaron a cabo las siguientes exploraciones complementarias: análisis sanguíneo, radiografía de tórax y ecografía de la lesión. Mediante estos procedimientos, se diagnosticó al paciente de una entidad denominada tumor esternal autolimitado de la infancia o SELSTOC (self limiting sternal tumors of childhood) por sus siglas en inglés. Es aconsejable reconocer esta entidad dado que se trata de un proceso benigno que no requiere de la realización de pruebas cruentas y que permite transmitir tranquilidad a los familiares por su buen pronóstico (AU)

The appearance of tumors in pediatric patients is a cause of great family distress. Specifically, sternal masses are infrequent entities, but they should be known. We present the case of a patient with sudden onset of a sternal tumor. After anamnesis and physical examination, the following complementary examinations were performed: blood analysis, chest X-ray and ultrasound of the lesion. By means of these procedures, the patient was diagnosed with an entity called self-limiting sternal tumor of childhood or SELSTOC (self-limiting sternal tumors of childhood). It is advisable to recognize this tumor since it is a benign process that does not require invasive tests and that allows us to reassure family members of its good prognosis. (AU)

Could MRI visualize the invisible? An Italian single center study comparing magnetic resonance lymphography (MRL), super microsurgery and histology in the identification of lymphatic vessels.

OBJECTIVE: Aim of this study is to evaluate the possibility of limb magnetic resonance lymphography (MRL) to differentiate lymphatic vessels from pathological veins, collect a specimen of the identified lymphatic vessel during operations of super microsurgical lymphatic-venular anastomosis (s-LVA) and perform immunohistochemical stainings to confirm the nature of the collected vessels. PATIENTS AND METHODS: Twenty patients presenting lymphedema were enrolled in this study. Five patients reported lower limb lymphedema and 15 patients reported upper limb lymphedema. All patients had the indication for s-LVA and underwent preoperative MRL imaging of the affected limb. A total of 57 lymphatic vessels were identified by MRL and used to guide s-LVA: all these vessels have also been used to perform an intraoperative biopsy for immunohistochemical evaluation. RESULTS: A total of 53/57 vascular structures resulted compatible with lymphatic vessels at the immunohistochemical study performed with D2-40 antibody; 3/57 specimen showed the absence of the D2-40 antibody. A significant association was found between preoperative MRL and immunohistochemical marker D2-40 on collected specimen. CONCLUSIONS: Most of the articles in the international literature report the concomitant presence of both lymphatic and venous vessels at MRL. However, no one in literature describes the possibility to differentiate venous vessels from lymphatic vessels, and this is a crucial issue for the correct evaluation of the lymphatic system in patients with limb lymphedema undergoing a future surgical correction. In the present study, MRL allowed to identify active lymphatic vessels. MRL was predictive to determine preoperatory lymphatic vessels and to perform successful s-LVA in lymphedema patients. This is the first study to prove the nature of the vessels identified at the preoperative MRL with immunohistochemical stainings.

Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility.

BACKGROUND: Complete deletion of the complete AZFc interval of the Y chromosome is the most common known genetic cause of human male infertility. Two partial AZFc deletions (gr/gr and b1/b3) that remove some copies of all AZFc genes have recently been identified in infertile and fertile populations, and an association study indicates that the resulting gene dose reduction represents a risk factor for spermatogenic failure. METHODS: To determine the incidence of various partial AZFc deletions and their effect on fertility, we combined quantitative and qualitative analyses of the AZFc interval at the DAZ and CDY1 loci in 300 infertile men and 399 control men. RESULTS: We detected 34 partial AZFc deletions (32 gr/gr deletions), arising from at least 19 independent deletion events, and found gr/gr deletion in 6% of infertile and 3.5% of control men (p>0.05). Our data provide evidence for two large AZFc inversion polymorphisms, and for relative hot and cold spots of unequal crossing over within the blocks of homology that mediate gr/gr deletion. Using SFVs (sequence family variants), we discriminate DAZ1/2, DAZ3/4, CDY1a (proximal), and CDY1b (distal) and define four types of DAZ-CDY1 gr/gr deletion. CONCLUSIONS: The only deletion type to show an association with infertility was DAZ3/4-CDY1a (p = 0.042), suggesting that most gr/gr deletions are neutral variants. We see a stronger association, however, between loss of the CDY1a SFV and infertility (p = 0.002). Thus, loss of this SFV through deletion or gene conversion could be a major risk factor for male infertility.

A cross-sectional nationwide survey on esophageal atresia and tracheoesophageal fistula.

BACKGROUND: Our study aims at disclosing epidemiology and most relevant clinical features of esophageal atresia (EA) pointing to a model of multicentre collaboration. METHODS: A detailed questionnaire was sent to all Italian Units of pediatric surgery in order to collect data of patients born with EA between January and December 2012. The results were crosschecked by matching date and place of birth of the patients with those of diagnosis-related group provided by the Italian Ministry of Health (MOH). RESULTS: A total of 146 questionnaires were returned plus a further 32 patients reported in the MOH database. Basing on a total of 178 patients with EA born in Italy in 2012, the incidence of EA was calculated in 3.33 per 10,000 live births. Antenatal diagnosis was suspected in 29.5% patients. 55.5% showed associated anomalies. The most common type of EA was Gross type C (89%). Postoperative complications occurred in 37% of type C EA and 100% of type A EA. A 9.5% mortality rate was reported. CONCLUSIONS: This is the first Italian cross-sectional nationwide survey on EA. We can now develop shared guidelines and provide more reliable prognostic expectations for our patients.

Memory performances in depressed patients during prophylactic treatment with lithium salts.

The study involved 42 subjects suffering from unipolar depression (35 females and 7 males) who had received 600-1,200 mg of lithium carbonate daily for periods ranging from 6 months to 7 years. Concurrently with the memory tests, the patients were also submitted to the Hamilton test for the evaluation of depression and blood samples were taken in order to measure lithium blood levels. In the groups of subjects examined by us (grouped according to lithemia, time on the drug and degree of depression, as, evaluated by Hamilton's test), significant differences were found only in the short-term figure test and, partially, in the long term memory verbal test.

Metástasis pulmonares de origen desconocido / Lung metastases of unknown primary origin

No disponible

Culture of human mesenchymal stem cells at low oxygen tension improves growth and genetic stability by activating glycolysis.

Expansion of human stem cells before cell therapy is typically performed at 20% O(2). Growth in these pro-oxidative conditions can lead to oxidative stress and genetic instability. Here, we demonstrate that culture of human mesenchymal stem cells at lower, physiological O(2) concentrations significantly increases lifespan, limiting oxidative stress, DNA damage, telomere shortening and chromosomal aberrations. Our gene expression and bioenergetic data strongly suggest that growth at reduced oxygen tensions favors a natural metabolic state of increased glycolysis and reduced oxidative phosphorylation. We propose that this balance is disturbed at 20% O(2), resulting in abnormally increased levels of oxidative stress. These observations indicate that bioenergetic pathways are intertwined with the control of lifespan and decisively influence the genetic stability of human primary stem cells. We conclude that stem cells for human therapy should be grown under low oxygen conditions to increase biosafety.