Biosynthetic meshes in contaminated fields: where are we now? A systematic review and meta-analysis in humans.

PURPOSE: Selection of an appropriate mesh reinforcement for hernia repair in contaminated fields is a significant problem for surgeons. To date the proper mesh for contaminated fields has not been found. Biosynthetic meshes have emerged as new treatment option in contaminated fields. This study aims to evaluate the postoperative outcomes of biosynthetic meshes in contaminated fields. METHODS: Systematic electronic search (PubMed, Medline, Embase, Scopus), according to PRISMA criteria, was performed. A literature search of scientific papers was performed by two reviewers until April 2021. Articles were chosen based on reference to biosynthetic meshes, their use in infected fields, and in human subjects. GRADE methodology and the modified Newcastle-Ottawa scale were used to assess the quality of studies. According to CDC-Centers for Disease Control classes patients were divided into two subgroups, group 1 (CDC class 2) and group 2 (CDC classes 3-4). RESULTS: The research included 21 articles and 1619 patients were analyzed. Long-term follow-up showed a significant higher recurrence rate than short-term follow-up. P < 0.001. Meta-analysis of these studies showed that the SSI were significantly higher in CDC classes 3-4 than CDC class 2 (P < 0.01). No differences were found in SSO (P = 0.06) and recurrence (P = 0.37) rate among the two groups. Phasix™ was the most common mesh in 15 studies. The mean follow-up was 23.0 months. The surgical site infection (SSI) rate was 17.3%. The surgical site occurrence (SSO) rate was 32.4%. Recurrence rate was 11.5%. CONCLUSION: This is the first systematic review and meta-analysis on the clinical outcomes of abdominal wall repair using biosynthetic mesh in contaminated-infected settings. The results show good results in patients at high risk of postoperative wound complications. The aim of this study is to add to the growing literature on biosynthetic mesh a picture of current literature evidence to help future researchers performing further studies on this topic.

PROPHYlactic Implantation of BIOlogic Mesh in peritonitis (PROPHYBIOM): a prospective multicentric randomized controlled trial.

BACKGROUND: Patients undergoing emergency surgery for peritonitis are at increased risk of abdominal wall-related complications. In patients with peritonitis, the risk of incisional hernia (IH) is extremely elevated. The evaluation of quality of life of patients with incisional hernia showed lower mean scores on physical components of health-related quality of life and body image. Furthermore, the arise of a post-operative abdominal wall complication (i.e., wound dehiscence, evisceration and IH) greatly increases morbidity and mortality rates and prolongs the hospitalization. METHODS: The present study aims to evaluate the efficacy of the use of a swine dermal collagen prosthesis implanted preperitoneally as a prophylactic procedure in urgency/emergency setting against abdominal wall complications in patients operated with contaminated/infected field in peritonitis. The sample size was defined in 90 patients divided in two arms (prosthesis positioning versus normal wall abdominal closure). The follow-up will be performed at 3, 6, and 12 months after surgery. The percentage of incisional hernias, wound infections, and adverse events will be investigated by physical examination and ultrasound. DISCUSSION: The objective is to evaluate the possibility to reduce the incisional hernia rate in patients undergoing urgent/emergent laparotomy in contaminated/infected field with peritonitis by using swine dermal collagen prosthesis preperitoneal positioning as a prophylactic procedure. TRIAL REGISTRATION: ClinicalTrials.gov NCT04681326. Registered (retrospectively after first patient recruited) on 23 December 2020.

Acute supralevator abscess: the little we know.

INTRODUCTION: Acute supralevator abscess (SLA) is an uncommon and complicated form of anorectal sepsis. Its correct management is crucial to avoid complex iatrogenic fistula formation. A comprehensive review of the literature was conducted to determine the incidence of SLA and the surgical outcome with particular reference to the direction of drainage. METHODS: A search of Medline, PubMed and the Cochrane Library was performed to identify all studies reporting surgical drainage of SLA. FINDINGS: A total of 19 studies were identified, including 563 patients. The only two prospective studies reported an incidence of SLA of 10% and 3% in 68 and 100 patients, respectively, with anorectal sepsis. In 17 retrospective studies, the incidence ranged from 0% to 28%. Magnetic resonance imaging (MRI) was performed routinely in only one study. The surgical anatomical classification of the abscess was described in six studies diagnosed at surgery. The direction of surgical drainage whether 'inwards' (into the lumen) or 'outwards' (into the ischioanal fossa) was stated in only six studies. In two of these, the direction of drainage was contradictory to the recommendation made by Parks et al. Recurrent sepsis was reported in eight studies and ranged from 0% to 53%. CONCLUSIONS: Detailed and prospective data on acute SLA are lacking. Its real incidence is unclear and it is not possible to analyse surgical outcomes conclusively according to different direction of drainage. The routine use of MRI in complicated anorectal sepsis would specify the surgical anatomy of SLA before any drainage is carried out.

The impact of transanal local excision of early rectal cancer on completion rectal resection without neoadjuvant chemoradiotherapy: a systematic review.

BACKGROUND: The impact of transanal local excision (TAE) of early rectal cancer (ERC) on subsequent completion rectal resection (CRR) for unfavorable histology or margin involvement is unclear. The aim of this study was to provide a comprehensive review of the literature on the impact of TAE on CRR in patients without neoadjuvant chemoradiotherapy (CRT). METHODS: We performed a systematic review of the literature up to March 2020. Medline and Cochrane libraries were searched for studies reporting outcomes of CRR after TAE for ERC. We excluded patients who had neoadjuvant CRT and endoscopic local excision. Surgical, functional, pathological and oncological outcomes were assessed. The Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines were followed. RESULTS: Sixteen studies involving 353 patients were included. Pathology following TAE was as follows T0 = 2 (0.5%); T1 = 154 (44.7%); T2 = 142 (41.2%); T3 = 43 (12.5%); Tx = 3 (0.8%); T not reported = 9. Fifty-three percent were > T1. Abdominoperineal resection (APR) was performed in 80 (23.2%) patients. Postoperative major morbidity and mortality occurred in 22 (11.4%) and 3 (1.1%), patients, respectively. An incomplete mesorectal fascia resulting in defects of the mesorectum was reported in 30 (24.6%) cases. Thirteen (12%) patients developed recurrence: 8 (3.1%) local, 19 (7.3%) distant, 4 (1.5%) local and distant. The 5-year cancer-specific survival was 92%. Only 1 study assessed anal function reporting no continence disorders in 11 patients. In the meta-analysis, CRR after TAE showed an increased APR rate (OR 5.25; 95% CI 1.27-21.8; p 0.020) and incomplete mesorectum rate (OR 3.48; 95% CI 1.32-9.19; p 0.010) compared to primary total mesorectal excision (TME). Two case matched studies reported no difference in recurrence rate and disease free survival respectively. CONCLUSIONS: The data are incomplete and of low quality. There was a tendency towards an increased risk of APR and poor specimen quality. It is necessary to improve the accuracy of preoperative staging of malignant rectal tumors in patients scheduled for TAE.

Identification of a caleosin associated with hazelnut (Corylus avellana L.) oil bodies.

Caleosins are involved in several cellular and biological processes that are closely associated with the synthesis, degradation and stability of oil bodies (OB). Because of the importance and the multiple roles of these OB-associated proteins, in silico identification of sequences corresponding to putative caleosins in the hazelnut genome has been performed, and the association with seed OB was verified using a proteomic approach. Five full-length sequences (CavCLO-H1, CavCLO-H2, CavCLO-H3, CavCLO-L1, CavCLO-L2), belonging to the two groups of caleosins (H and L), have been identified in the hazelnut genome. The number of identified caleosins is in agreement with that previously observed in other plant species, confirming that caleosins comprise small gene families in plants. A proteomic approach allowed us to verify only the presence of CavCLO-H1 in hazelnut OB, suggesting that several members inside this family could have different roles during plant growth and development. In silico analysis also suggests that CavCLO-H1 may act as a peroxygenase.

Ventral cervical versus bilateral lateral approach for extirpation of mandibular and medial retropharyngeal lymph nodes in dogs.

OBJECTIVE: To compare ventral cervical and bilateral lateral incisions for extirpation of mandibular and medial retropharyngeal lymph nodes in dogs. STUDY DESIGN: Prospective randomized, crossover controlled cadaver trial. SAMPLE POPULATION: Eight veterinarians with advanced surgical training. METHODS: Study participants were randomized to perform both techniques on paired cadavers. Time to extirpation of the first and last lymph node, length of incisions, and complications were recorded for both techniques. Participants were asked to rate satisfaction with their ability to identify local anatomy and lymph nodes as well as overall preferred technique by using a 10-point numerical rating scale. RESULTS: The total length of skin incised for the bilateral lateral approach exceeded that of the ventral cervical approach by 52.1 mm (mean, P < .001). The surgical time for removal of all 4 lymph nodes did not differ between the 2 approaches. The bilateral lateral approach was preferred by 62.5% (5/8) of participants for visualization of mandibular lymph nodes, and the ventral cervical approach was preferred by 87.5% (7/8) of participants for visualization of local anatomy. Overall, 62.5% (5/8) preferred the ventral cervical approach and 37.5% (3/8) preferred the bilateral lateral approach. CONCLUSION: The ventral cervical approach was preferred by participants for its perceived superior visualization of local anatomy and access to lymph nodes for removal. This approach also resulted in an overall shorter incision length. CLINICAL SIGNIFICANCE: A ventral cervical or bilateral lateral approach allows successful removal of the medial mandibular and retropharyngeal lymph nodes in dogs, and surgical approach may be selected according to individual preference.

Citizen crowds and experts: observer variability in image-based plant phenotyping.

BACKGROUND: Image-based plant phenotyping has become a powerful tool in unravelling genotype-environment interactions. The utilization of image analysis and machine learning have become paramount in extracting data stemming from phenotyping experiments. Yet we rely on observer (a human expert) input to perform the phenotyping process. We assume such input to be a 'gold-standard' and use it to evaluate software and algorithms and to train learning-based algorithms. However, we should consider whether any variability among experienced and non-experienced (including plain citizens) observers exists. Here we design a study that measures such variability in an annotation task of an integer-quantifiable phenotype: the leaf count. RESULTS: We compare several experienced and non-experienced observers in annotating leaf counts in images of Arabidopsis Thaliana to measure intra- and inter-observer variability in a controlled study using specially designed annotation tools but also citizens using a distributed citizen-powered web-based platform. In the controlled study observers counted leaves by looking at top-view images, which were taken with low and high resolution optics. We assessed whether the utilization of tools specifically designed for this task can help to reduce such variability. We found that the presence of tools helps to reduce intra-observer variability, and that although intra- and inter-observer variability is present it does not have any effect on longitudinal leaf count trend statistical assessments. We compared the variability of citizen provided annotations (from the web-based platform) and found that plain citizens can provide statistically accurate leaf counts. We also compared a recent machine-learning based leaf counting algorithm and found that while close in performance it is still not within inter-observer variability. CONCLUSIONS: While expertise of the observer plays a role, if sufficient statistical power is present, a collection of non-experienced users and even citizens can be included in image-based phenotyping annotation tasks as long they are suitably designed. We hope with these findings that we can re-evaluate the expectations that we have from automated algorithms: as long as they perform within observer variability they can be considered a suitable alternative. In addition, we hope to invigorate an interest in introducing suitably designed tasks on citizen powered platforms not only to obtain useful information (for research) but to help engage the public in this societal important problem.

In veterinary trials reporting and communication regarding randomisation procedures is suboptimal.

To evaluate randomisation mechanisms in the veterinary literature, all trials defined as 'randomised' were extracted from five leading veterinary journals for the year 2013. Three blinded investigators evaluated (1) if the random sequence generation was actually non-random, and (2) whether method (CONSORT item 8A) and (3) type of randomisation (CONSORT item 8B) were reported. Trialists were contacted via email to establish (1) willingness to respond to questions on randomisation procedures, (2) whether reporting of randomisation improved following a suggestion to use the CONSORT 2010 guideline. Seven per cent ((95 per cent CI 2 to 12 per cent); 8/114) of the trials defined as 'randomised' explicitly used methods that are considered non-random. Almost half of the trials (49 per cent (40 to 59 per cent); 52/106) did not report any mechanism of randomisation. Only 13 trials (12.3 per cent (6 to 19 per cent); 13/106) reported both items. 39 of 114 (34.2 per cent) trialists contacted were willing to respond to further questions on randomisation mechanisms; 4 (3.5 per cent) trialists were unwilling and 71 (62.3 per cent) trialists did not respond. Email correspondence resulted in a mean clarification of 0.7 items (95 per cent CI 0.4 to 1.0) for the 15 trials for trialists that replied. Improved adherence to CONSORT guidelines and trialists communication is imperative to increase the quality of published evidence in veterinary medicine and to reduce research waste.

Increased Systemic Cytokine/Chemokine Expression in Asthmatic and Non-asthmatic Patients with Bacterial, Viral or Mixed Lung Infection.

This study was aimed to determine the profiles of serum cytokines (IL-1ß, TNF-α, IL-4, IL-5) and chemokines (MCP-1: monocyte chemoattract protein-1 and RANTES: regulated on activation normal T cell expressed and secreted) in individuals with an asthmatic versus a non-asthmatic background with bacterial, viral or mixed acute respiratory infection. Asthmatic (n = 14) and non-asthmatic (n = 29) patients with acute viral, bacterial or mixed (bacterial and viruses) respiratory infection were studied. Patients were also analysed as individuals with pneumonia or bronchitis. Healthy individuals with similar age and sex (n = 10) were used as controls. Cytokine/chemokine content in serum was determined by ELISA. Increased cytokine/chemokine concentration in asthmatic and non-asthmatic patients was observed. However, higher concentrations of chemokines (MCP-1 and RANTES) in asthmatic patients infected by viruses, bacteria or bacteria and viruses (mixed) than in non-asthmatic patients were observed. In general, viral and mixed infections were better cytokine/chemokine inducers than bacterial infection. Cytokine/chemokine expression was similarly increased in both asthmatic and non-asthmatic patients with pneumonia or bronchitis, except that RANTES remained at normal levels in bronchitis. Circulating cytokine profiles induced by acute viral, bacterial or mixed lung infection were not related to asthmatic background, except for chemokines that were increased in asthmatic status.

Efficacy and toxicity of carboplatin and cytarabine chemotherapy for dogs with relapsed or refractory lymphoma (2000-2013).

Medical records of 22 dogs treated with carboplatin (n = 8) or carboplatin and cytarabine (n = 14) chemotherapy for relapsed or refractory lymphoma between 2000 and 2013 were retrospectively reviewed. The clinical response rate was 18.2% (4/22). Median time to progression was 18 days (56 for responders; 12 for non-responders, P = 0.0006). Median overall survival time was 28 days (109 for responders; 21 for non-responders, P = 0.0007). Thrombocytopenia and neutropenia occurred in 84.2% (16/19) and 52.6% (10/19), respectively. Grade IV thrombocytopenia and neutropenia occurred in 56.3% (9/16) and 60.0% (6/10), respectively. Dogs that received both drugs were more likely to become neutropenic (P = 0.022) or thrombocytopenic (P = 0.001) than dogs receiving carboplatin alone. All responders received both drugs giving a 28.6% (4/14) response rate for the combination. Although some dogs responded to the combination, toxicity was high and the responses were not durable. With adequate supportive care, this protocol may be an acceptable rescue option for some dogs.

Use of routine histopathology and factor VIII-related antigen/von Willebrand factor immunohistochemistry to differentiate primary hemangiosarcoma of bone from telangiectatic osteosarcoma in 54 dogs.

Hemangiosarcoma (HSA) of bone and telangiectatic osteosarcoma (tOSA) can appear similar histologically, but differ in histogenesis (malignant endothelial cells versus osteoblasts), and may warrant different treatments. Immunohistochemistry (IHC) for endothelial cell marker factor VIII-related antigen/von Willebrand factor (FVIII-RAg/vWF) is a well-documented ancillary test to confirm HSA diagnoses in soft tissues, but its use in osseous HSA is rarely described. Archived samples of 54 primary appendicular bone tumours previously diagnosed as HSA or tOSA were evaluated using combination routine histopathology (RHP) and IHC. Approximately 20% of tumours were reclassified on the basis of FVIII-RAg/vWF immunoreactivity, typically from an original diagnosis of tOSA to a reclassified diagnosis of HSA. No sample with tumour osteoid clearly identified on RHP was immunopositive for FVIII-RAg/vWF. RHP alone was specific but not sensitive for diagnosis of HSA, compared with combination RHP and IHC. Routine histopathological evaluation in combination with FVIII-RAg/vWF IHC can help differentiate canine primary appendicular HSA from tOSA.

Langmuir monolayers and Differential Scanning Calorimetry for the study of the interactions between camptothecin drugs and biomembrane models.

CPT-11 and SN-38 are camptothecins with strong antitumor activity. Nevertheless, their severe side effects and the chemical instability of their lactone ring have questioned the usual forms for its administration and have focused the current research on the development of new suitable pharmaceutical formulations. This work presents a biophysical study of the interfacial interactions of CPT-11 and SN-38 with membrane mimetic models by using monolayer techniques and Differential Scanning Calorimetry. The aim is to get new insights for the understanding of the bilayer mechanics after drug incorporation and to optimize the design of drug delivery systems based on the formation of stable bilayer structures. Moreover, from our knowledge, the molecular interactions between camptothecins and phospholipids have not been investigated in detail, despite their importance in the context of drug action. The results show that neither CPT-11 nor SN-38 disturbs the structure of the complex liposome bilayers, despite their different solubility, that CPT-11, positively charged in its piperidine group, interacts electrostatically with DOPS, making stable the incorporation of a high percentage of CPT-11 into liposomes and that SN-38 establishes weak repulsive interactions with lipid molecules that modify the compressibility of the bilayer without affecting significantly neither the lipid collapse pressure nor the miscibility pattern of drug-lipid mixed monolayers. The suitability of a binary and a ternary lipid mixture for encapsulating SN-38 and CPT-11, respectively, has been demonstrated.

Cloning, expression, and antigenic characterization of recombinant protein of Mycoplasma gallisepticum expressed in Escherichia coli.

Mycoplasma gallisepticum (MG) is a member of the most important avian mycoplasmas, causing chronic respiratory disease in chickens and leading to important economic losses in the poultry industry. Recombinant technology represents a strategic approach used to achieve highly reliable and specific diagnostic tests in veterinary diseases control: in particular this aspect is crucial for confirming mycoplasma infection and for maintaining mycoplasma-free breeder flocks. In this study, we identified a component of the pyruvate dehydrogenase dihydrolipoamide acetyltransferase (i.e., E2) protein by 2-dimensional electrophoresis (2-DE), characterized it in immunoblotting assays, and analyzed its recombinant (r-E2) in a rec-ELISA test. For full-length protein expression in Escherichia coli (EC) a point mutation was introduced. A rabbit antiserum produced against r-E2 was tested in a Western Blot using different samples of Mycoplasma species. The results showed the applicability of site-directed mutagenesis, with a good yield of the r-E2 after purification. Also, anti-E2 serum reacted with all the tested MG strains showing no cross reaction with other mycoplasmas. The developed E2 ELISA test was capable of detecting MG antibodies in the sera examined. Those results demonstrate the antigenic stability of the E2 protein which could represent a recombinant antigen with potential diagnostic applications.

Quality of life measurement in prospective studies of cancer treatments in dogs and cats.

BACKGROUND: Quality of life (QOL) is an important consideration in healthcare decision-making for pets with cancer. To determine the effect of disease and treatment on pet QOL, this important variable should be objectively measured as an outcome in veterinary cancer studies. OBJECTIVES: To determine the prevalence and methodology of QOL measurement in a sample of recently published reports of prospective studies evaluating cancer treatments in client-owned dogs and cats; to characterize reporting of QOL outcomes and to identify article characteristics associated with QOL measurement. METHODS: English-language reports of prospective studies of cancer treatments in dogs and cats published from 2008 to 2013 were identified using medical research databases combined with a hand-searching strategy. Data pertaining to general article characteristics and QOL measurement were abstracted and summarized. RESULTS: Reports of 144 eligible studies were identified. QOL was measured in 16 (11.1%) studies, with 8 (5.6%) reporting the results. All studies that measured QOL reported using unvalidated instruments, or did not report how QOL was assessed. Only 1 study provided sufficient information for QOL measurements to be replicated. Recently published articles (2011-2013) were significantly more likely to report measuring QOL, compared with earlier articles. CONCLUSIONS: Quality of life of pets undergoing cancer treatment is largely unreported and cannot be meaningfully compared across treatments or disease states using the existing literature. Reliable, validated instruments are needed to facilitate the measurement and comparison of pet QOL in veterinary cancer research. Consistent reporting practices could improve transparency and interpretation of QOL results.

Shrimp allergy beyond Tropomyosin in Italy: clinical relevance of Arginine Kinase, Sarcoplasmic calcium binding protein and Hemocyanin.

BACKGROUND: Little is known about the prevalence and clinical relevance of sensitization to shrimp allergens other than tropomyosin. OBJECTIVE: We detected the prevalence of arginine kinase and sarcoplasmic calcium binding protein sensitization, and identified a high molecular weight allergen that is frequently recognized by Italian shrimp-allergic patients. METHODS: Sera from 40 shrimp-allergic patients underwent the detection of IgE specific for arginine kinase (rPen m 2) and sarcoplasmic calcium-binding protein (rPen m 4) by ISAC 112 Microarray platform and immunoblot analysis. A high molecular weight shrimp allergen was identified by N-terminal amino acid sequencing. RESULTS: IgE to rPen m 2 and rPen m 4 were found in 4/40 (10%) and 6/40 (15%) sera, respectively; two sera reacted to both allergens. Clinically, 6/8 Pen m 2 and/or Pen m 4 reactors experienced severe allergies to shrimp. On immunoblot, 4/6 rPen m 4-positive sera showed IgE reactivity at about 20 kDa, whereas no rPen m 2-positive serum reacted at about 40 kDa. Nineteen (47%) sera showed IgE reactivity at molecular weights > 60 kDa. Such profile was not associated with IgE reactivity to rPen m 2 or rPen m 4. N-terminal amino acid sequencing of the high molecular weight allergen led to the identification of hemocyanin. CONCLUSION: Shrimp arginine kinase and sarcoplasmic calcium-binding protein are minor allergens sensitizing only 10%-15% of Italian shrimp-allergic patients, but are clinically relevant. Hemocyanin is a clinically relevant high molecular weight shrimp allergen possibly cross-reacting to house dust mite.

Mugwort-fennel-allergy-syndrome associated with sensitization to an allergen homologous to Api g 5.

BACKGROUND: The cross-reactive allergen responsible for the so called "mugwort-celery-spice-syndrome", a pollen-food allergy that occurs in a minority of mugwort pollen-allergic patients, is still undefined. OBJECTIVE: To identify the allergen responsible for the cross-reactivity between mugwort pollen and plant-derived foods. METHODS: The serum from one index patient with both fennel and mugwort pollen allergy was used to identify IgE-reactive allergens by direct ELISA and Immunoblot analysis. Cross-reactivity between mugwort pollen and fennel was checked by cross-inhibition experiments. Fennel and mugwort allergens selected on the basis of IgE reactivity and inhibition tests were excised from SDS-PAGE gels and microsequenced. The amino acid sequences obtained were used to screen the NCBI database using the protein BLAST software. RESULTS: On ELISA inhibition experiments, serum absorption with fennel extract completely inhibited the IgE response to mugwort. On immmunoblot analysis periodate treatment caused the disappearance of all bands of IgE reactivity except one at about 60 kDa. The 60 kDa bands from both mugwort and fennel PAGE-SDS gels revealed the presence of distinct proteins. The N-terminal amino acid sequencing gave the same major amino acid sequence corresponding to an Api g 5-like allergen. The MS/MS spectra were analyzed and a provided evidence of a fennel-specific protein with sequence similarity to phosphoglyceromutase from Apium graveolens. CONCLUSION: A 60 kDa allergen, highly homologous to Api g 5, was recognized in fennel by patient's IgE. Inhibition experiments showed a high degree of cross-reactivity between this fennel allergen and the homologous mugwort pollen allergen. This allergen might be responsible for the mugwort-celery-spice syndrome.

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

Microdeletion 1q21.1 (del 1q21.1) and the reciprocal microduplication 1q21.1 (dup 1q21.1) are newly recognized genomic disorders, characterized by developmental delay, dysmorphic features and congenital malformations. Congenital heart defect (CHD) is a major feature of del 1q21.1, and has been occasionally reported in dup 1q21.1. We report here a family segregating del 1q21.1 in 3 members. Two of the affected family members had CHD, including the proband with syndromic atrial septal defect, pulmonary valve stenosis (PVS), and muscular ventricular septal defects, and the maternal uncle with non-syndromic PVS. This finding prompted investigation of the role of recurrent rearrangements of chromosome 1q21.1 in the pathogenesis of PVS. We gathered 38 patients with PVS (11 syndromic and 27 non-syndromic), and searched for genomic rearrangements of 1q21.1. A dup 1q21.1 was detected in a single sporadic non-syndromic patient. Review of the CHDs in published del 1q21.1 and dup 1q21.1 subjects showed a great heterogeneity in anatomic types. In conclusion, the present family illustrates recurrent CHD in del 1q21.1, expressing either as syndromic in one family member or as non-syndromic in the another one. The spectrum of CHDs associated with del 1q21.1 and dup 1q21.1 can occasionally include PVS.

Association between article citation rate and level of evidence in the companion animal literature.

BACKGROUND: Level of evidence (LOE) hierarchies rank scientific articles according to the use of study design features intended to limit bias. Citation analysis of medical articles has shown that studies with high LOE ranking are preferentially cited. OBJECTIVES: To determine whether clinical companion animal articles reporting study designs classified as high LOE are more frequently cited than those with designs classified as low LOE and to characterize other factors associated with 5-year citation rate. METHODS: Literature survey of all original clinical articles published in 2004 in 5 peer-reviewed clinical veterinary journals. For each eligible article, details of scientific and nonscientific characteristics were collected, an LOE classification was assigned, and the 5-year citation rate following publication was determined. Linear regression was used to identify factors associated with citation rate. RESULTS: Overall LOE was low with 188 of 209 eligible articles describing a study design classified as low LOE. An association was not identified between 5-year citation frequency and LOE classification or any specific feature of study methodology. Articles pertaining to infectious disease or published in the Journal of Veterinary Internal Medicine were associated with significantly greater subsequent citations. CONCLUSIONS AND CLINICAL IMPORTANCE: Reports of veterinary studies designed to limit the influence of bias are not more widely referenced than articles reporting data obtained through less stringent methodologies. Medical subspecialty and publishing journal prestige can influence an article's subsequent citation rate.

Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review.

We describe a foetus with an interstitial deletion of 1q detected in amniotic fluid cells and we review the literature of similar pre- and postnatal cases, in order to identify prognostic factors useful for prenatal counselling. Foetal/parents karyotyping and FISH with whole chromosome 1 paint and BAC clone specific for 1q23-32 region were performed. Further 100 Kb resolution array-CGH analysis was executed after pregnancy termination on DNA extracted from foetal skin fibroblasts. Cytogenetic analyses revealed a de novo interstitial deletion involving the long arm of chromosome 1. FISH analysis confirmed that the deletion involves the intermediate 1q31.2 region. Foetal ultrasound (US), performed at 21 weeks of gestation, showed intrauterine growth restriction, shortening of the long bones, echogenic intracardiac focus and mild cerebral ventriculomegaly. Array-CGH localized the deletion in a DNA sequence of about 21 Mb in the 1q24.3-q31.3 region. Our findings, together with available data on patients with 1q deletion, suggest that the most severe phenotypes are not simply associated with larger deletion, and that the results of prenatal US assessment, rather than a fine molecular characterization of the deletion, should be taken into account for prognostic evaluation.