Assessment of copy number variations in 120 patients with Poland syndrome

Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. Karyotyping and array-comparative genomic hybridization (CGH) analyses can identify genomic imbalances that can clarify the genetic etiology of congenital and neurodevelopmental disorders. We previously reported a chromosome 11 deletion in twin girls with pectoralis muscle hypoplasia and skeletal anomalies, and a chromosome six deletion in a patient presenting a complex phenotype that included pectoralis muscle hypoplasia. However, the contribution of genomic imbalances to PS remains largely unknown

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

Background Poland syndrome (OMIM: 173800) is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, breast, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals. Main body The aim of this work is to provide recommendations for the diagnosis and management of people affected by Poland syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years affected subjects. The literature search was performed in the second half of 2019. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conclusion Being Poland syndrome a rare syndrome most recommendations here presented are good clinical practice based on the consensus of the participant experts

Upcycling of carrot discards into prebiotics (fructooligosaccharides) as high value food ingredients

A great amount of carrots is discarded daily in the word because they do not meet the quality standards imposed by consumer market. The aim of this work was to evaluate the feasibility of using carrot discards as substrate of solid-state fermentation to produce β-fructofuranosidase by Aspergillus niger and its subsequent use to catalyze the synthesis of fructooligosaccharides (prebiotics) using carrot juice. Results indicated that carrot bagasse has adequate nutrients for the growth of A. niger, but supplementation with a source of nitrogen is required to obtain a high production of β-fructofuranosidase (90.82 U/mL). Maximum specific activity (251 U/mg) was obtained after 3 days of fermentation at 30 ºC, using an inoculum of 106 conidia/ mL. β-fructofuranosidase was successfully used to synthesize fructooligosaccharides using carrot juice as substrate, raising the possibility for future development of a natural functional beverage. Tweetable abstract: A great amount of carrots is discarded daily. This paper evaluates the use of carrot bagasse to produce β-fructofuranosidase and its subsequent application in carrot juice to produce a natural beverage with prebiotics.Fil: Guerra, Laureana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Procesos Biotecnológicos y Químicos Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas. Instituto de Procesos Biotecnológicos y Químicos Rosario; ArgentinaFil: Romanini, Diana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Procesos Biotecnológicos y Químicos Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas. Instituto de Procesos Biotecnológicos y Químicos Rosario; ArgentinaFil: López, Silvia Noelí. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas. Departamento de Química Orgánica. Área Farmacognosia; ArgentinaFil: Castelli, Maria Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario; Argentina. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas. Departamento de Química Orgánica. Área Farmacognosia; ArgentinaFil: Clementz, Adriana Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Rosario. Instituto de Procesos Biotecnológicos y Químicos Rosario. Universidad Nacional de Rosario. Facultad de Ciencias Bioquímicas y Farmacéuticas. Instituto de Procesos Biotecnológicos y Químicos Rosario; Argentin

Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment

Poland Syndrome (PS) is a rare condition, with an estimated incidence of approximately 1 per 30,000 births and encompasses a wide range of severities of chest and upper arm anomalies. The etiology remains unknown, but genetic involvement is suspected. Few radiological investigations have proven useful in the study PS phenotypes and we propose a reference algorithm for guiding pediatricians. Our experience with 245 PS patients in the last 10 years stimulated a phenotypical classification of PS. The management of the different PS types and a therapeutic algorithm according to the phenotypical features of each PS patient are also proposed

A sustainable affinity partitioning process to recover papain from carica papaya latex using alginate as macro-ligand

The role of the natural biodegradable polymer alginate (ALG) as affinity macro-ligand for papain (PAP) was evaluated in order to design a new sustainable two-phase affinity strategy for recovering this enzyme from Carica papaya latex. In presence of PAP, decreased values of intrinsic viscosity and hydrodynamic radius of ALG were observed. These results suggested a neutralizing effect of PAP on the polymer negative charges which caused a decrease of intra-chain repulsion forces in ALG molecules and a consequent shrinkage of the polymer size. Calorimetric measurements demonstrated a cooperative interaction between PAP and ALG which was enthalpy-entropically driven. When partitioned C. papaya latex into aqueous two-phase systems (ATPSs) formed by polyethylene glycol (PEG) of MW 8000 and the biodegradable salt sodium citrate pH 5.20, only 20% of PAP was recovered at the PEG-enriched phase with a purification factor (PF) of 2.48. The addition of ALG 0.1% (w/w) into the system doubled the PAP partition coefficient (Kp, PAP), showing the ability of this polymer to enhance the enzyme recovery at the PEG-enriched phase and therefore, increasing the extraction efficiency. The subsequent addition of calcium chloride at a final concentration of 80 mM allowed the precipitation of the target enzyme and the recovering of PEG phase for recycling. The overall process showed a PAP recovery of 72% and a PF of 2.41. The proposed strategy not only conserved all the advantages of the reported extractions with PEG/ammonium sulfate (or phosphate) ATPSs, i.e., low cost, scalability and integration of the clarification and extraction steps, but also allowed overcoming their main drawbacks, i.e., the separation of the target molecule from the phase-polymer and the environmental impact caused by the disposal of these salts16816817

The Nuss procedure after breast augmentation for female pectus excavatum

Pectus excavatum, the most common congenital chest wall malformation, has a higher incidence among men. Since 1987, when Donald Nuss performed his technique for the first time, the minimally invasive approach has become the most widely used technique for treating pectus excavatum. Few reported studies have focused on the repair of female pectus excavatum. Women with pectus excavatum often present with breast asymmetry that may require breast augmentation, either before or after pectus excavatum repair. To the authors' knowledge, no reports on the Nuss procedure after breast implant surgery have been published. This report describes the case of a 26-yearold woman who underwent minimally invasive repair after breast implant surgery. The authors believe that for women with severe pectus excavatum, the Nuss procedure should be the first choice for surgical correction. Moreover, for breast implant patients, this technique is absolutely feasible without major complications. \ua9 Springer Science+Business Media, LLC and International Society of Aesthetic Plastic Surgery 2009

Pseudomonas aeruginosa severe skin infection in a toddler with X-linked agammaglobulinemia due to a novel BTK mutation

11Agammaglobulinemia is a congenital deficit of humoral immunity characterized by a decreased level or complete absence of immunoglobulins and profound reduction of B-lymphocytes associated with an increased risk of life-threatening bacterial infection. We report a case of invasive Pseudomonas aeruginosa severe skin and soft tissue infection treated with vacuum-assisted closure and antibiotics in a toddler with a previously unreported mutation of the Bruton tyrosin kinase gene.nonenoneRiccardi, Niccoló; Rotulo, Gioacchino Andrea; Favilli, Federica; Loy, Anna; Moratto, Daniele; Giliani, Silvia; Mesini, Alessio; Romanini, Maria Victoria; Volpi, Stefano; Moscatelli, Andrea; Castagnola, ElioRiccardi, Niccoló; Rotulo, Gioacchino Andrea; Favilli, Federica; Loy, Anna; Moratto, Daniele; Giliani, Silvia; Mesini, Alessio; Romanini, Maria Victoria; Volpi, Stefano; Moscatelli, Andrea; Castagnola, Eli