Sarcopenic obesity and reduced BMD in young men living with HIV: body composition and sex steroids interplay.

PURPOSE: Sex steroids play a key role on male bone homeostasis and body composition (BC), their role in men living with HIV (MLWH) is less recognized. This study aimed at investigating the prevalence of low BMD, sarcopenia, and sarcopenic obesity (SO) and their relationship with sex steroids in MLWH aged < 50. METHODS: Prospective, cross-sectional, observational study on MLWH younger than 50 (median age 47.0 years). BC and BMD were evaluated with DXA. Two different definitions of sarcopenia were applied: appendicular lean mass/height2 (ALMI) < 7.26 kg/m2 or appendicular lean mass/body weight (ALM/W) < 28.27%. Low BMD was defined for Z-score < -2.0. Sarcopenia coupled with obesity identified SO. Serum total testosterone (T) and estradiol (E2) were measured by LC-MS/MS; free testosterone (cFT) was calculated by Vermeulen equation. RESULTS: Sarcopenia was detected in 107 (34.9%) and 44 (14.3%) out of 307 MLWH according to ALMI and ALM/W, respectively. The prevalence of SO was similar by using both ALMI (11.4%) and ALM/W (12.4%). Sarcopenic and SO MLWH had lower total T and cFT in both the definition for sarcopenia. BMD was reduced in 43/307 (14.0%). Serum E2 < 18 pg/mL was an independent contributing factor for sarcopenia, SO, and low BMD. CONCLUSIONS: T and E2 are important determinants of BC even in MLWH. This is among the first studies investigating the distribution of obesity phenotypes and the prevalence of SO among MLWH showing that SO is present in 11-12% of enrolled MLWH regardless of the definition used. However, deep differences emerged using two different diagnostic definitions.

Field output correction factors of small static field for IBA razor nanochamber.

Purpose.The goal of this work is present results of field output factors (OF) using an IBA CC003 (Razor NanoChamber) and compare these results with PTW 60019 (MicroDiamond) and IBA Razor Diode. The experimental results for IBA CC003 were also compared with Monte Carlo (MC) Simulation, using Penelope and Ulysses programs. In addition, field output correction factors (kQclin,Qmsrfclin,fmsr) for IBA CC003 were derived with three different methods: (1) using PTW 60019 and IBA Razor as reference detectors; (2) comparison between MC and experimental measurements; and (3) using only MC.Material and Methods. The beam collimation included in this study were (1) square field size between 10 × 10 and 0.5 × 0.5 cm2defined by the MLC and jaws and (2) cones of different diameters. For IBA CC003 it was determined the polarity and ion collection efficiency correction factors in parallel and perpendicular orientation.Results.The results indicate (1) the variation of polarity effect with the field size is relevant for the determination of OF using IBA CC003, especially for parallel orientation; (2) there is no significant variation of the ion collection efficiency with the field size using IBA CC003 in parallel orientation; (3) OF differences between IBA CC003 and PTW 60019/IBA Razor, and experimental and MC results, increase with decreasing field size;ThekQclin,Qmsrfclin,fmsrresults indicate (1) using the first and second method,kQclin,Qmsrfclin,fmsrincrease with decreasing field size, which can be related with the influence of the volume effect and (2) using the third method,kQclin,Qmsrfclin,fmsrdecrease with decreasing field size, which can be explained by the perturbation effect.Conclusions. Our results demonstrate the need of applyingkQclin,Qmsrfclin,fmsrfor IBA CC003 forSclin≤1 cm, to compensate for volume averaging and perturbations effects.

Novel unconventional radiotherapy techniques: Current status and future perspectives - Report from the 2nd international radiation oncology online seminar.

•Improvement of therapeutic ratio by novel unconventional radiotherapy approaches.•Immunomodulation using high-dose spatially fractionated radiotherapy.•Boosting radiation anti-tumor effects by adding an immune-mediated cell killing.

Long-term trajectories of bone metabolism parameters and bone mineral density (BMD) in obese patients treated with metabolic surgery: a real-world, retrospective study.

PURPOSE: Potential negative effects of metabolic surgery on skeletal integrity remain a concern, since long-term data of different surgical approaches are poor. This study aimed to describe changes in bone metabolism in subjects with obesity undergoing both Roux-en-Y gastric bypass (RYGB) and sleeve gastrectomy (SG). METHODS: A single center, retrospective, observational clinical study on real-world data was performed enrolling subjects undergoing metabolic surgery. RESULTS: 123 subjects were enrolled (males 31: females 92; ages 48.2 ± 7.9 years). All patients were evaluated until 16.9 ± 8.1 months after surgery, while a small group was evaluated up to 4.5 years. All patients were treated after surgery with calcium and vitamin D integration. Both calcium and phosphate serum levels significantly increased after metabolic surgery and remained stable during follow-up. These trends did not differ between RYGB and SG (p = 0.245). Ca/P ratio decreased after surgery compared to baseline (p < 0.001) and this decrease remained among follow-up visits. While 24-h urinary calcium remained stable across all visits, 24-h urinary phosphate showed lower levels after surgery (p = 0.014), also according to surgery technique. Parathyroid hormone decreased (p < 0.001) and both vitamin D (p < 0.001) and C-terminal telopeptide of type I collagen (p = 0.001) increased after surgery. CONCLUSION: We demonstrated that calcium and phosphorous metabolism shows slight modification even after several years since metabolic surgery, irrespective of calcium and vitamin D supplementation. This different set point is characterized by a phosphate serum levels increase, together with a persistent bone loss, suggesting that supplementation alone may not ensure the maintenance of bone health in these patients.

Ileus rate after abdominal wall reconstruction: a retrospective analysis of two clinical trials.

PURPOSE: Postoperative ileus (POI) is the paralytic disruption of gastrointestinal motility, a common complication following abdominal wall reconstruction that often leads to increased patient morbidity and length of stay (LOS). We reviewed two randomized clinical trials to determine POI rates, predictive factors, LOS, and associated cost. METHODS: Two randomized trials were performed from 2017-2019 with all patients receiving elective open abdominal wall reconstruction with retromuscular mesh. Using multivariate logistic regression, we performed a retrospective analysis including demographics and operative details from patients at a single site to determine predictive factors for POI. All medical costs encompassing surgery and the 30-day postoperative period were compared between ileus and non-ileus groups. RESULTS: Four hundred and seventy patients were reviewed with a POI rate of 13.0% (N = 61). There were no differences in age, body mass index (BMI), history of abdominal surgery, or comorbidities between patients with and without POI. Logistic regression showed no association with POI and age, BMI, hernia width, or operative time lasting longer than 4 h. Median LOS was 8 days for patients with POI compared to five for those without (p < 0.001). Relative median 30-day costs were 1.19 in patients with ileus and 1.0 in those without (p < 0.001). CONCLUSION: We identified a 13% rate of POI in patients undergoing open abdominal wall reconstruction with mesh with no clearly identified predisposing factors. This resulted in a 3 days increase in median LOS and 19% additional costs. Further efforts should be devoted to investigating interventions that may reduce postoperative ileus after abdominal wall reconstruction.

Effect of using mycotoxin-detoxifying agents in dairy cattle feed on natural whey starter biodiversity.

Natural whey cultures (NWC) are undefined multiple-strain bacterial starter communities that can be affected by even small changes along the entire dairy chain. We applied a multidisciplinary approach to investigate how the addition of 2 mycotoxin-detoxifying agents [sodium smectite and lignocellulose-based material (B1); leonardite and betaine (B2)] to cow diets modified the microbiota of the NWC in manufacture of a Grana-like cheese. Microbiological and flow cytometry analyses showed that the content and viability of lactic acid bacteria (LAB) and the total whey microbiota were not affected by the detoxifying agents, and Streptococcus thermophilus, Lactobacillus helveticus, and Limosilactobacillus fermentum were the dominant taxa. Random amplified polymorphic DNA-PCR fingerprinting and metagenomic analysis highlighted differences in the bacterial community of the NWC and in the relative abundance of Bacteroidetes that increased when B1 and B2 were included in the diet. Two of 6 St. thermophilus biotypes were detected only in control samples; conversely, none of the Lb. helveticus biotypes found in control samples were isolated from B1 and B2. In vitro tests showed that the 2 binders did not significantly affect the development of St. thermophilus, but they stimulated the growth of Lb. helveticus strains recovered only from B1 and B2 NWC. The addition of binders in cow feed can affect the LAB biotypes present in NWC.

The impact of modern radiotherapy on long-term cardiac sequelae in breast cancer survivor: a focus on deep inspiration breath-hold (DIBH) technique.

INTRODUCTION: One of the most feared side effects of radiotherapy (RT) in the setting of breast cancer (BC) patients is cardiac toxicity. This side effect can jeopardize the quality of life (QoL) of long-term survivors. The impact of modern techniques of RT such as deep inspiration breath hold (DIBH) have dramatically changed this setting. We report and discuss the results of the literature overview of this paper. MATERIALS AND METHODS: Literature references were obtained with a PubMed query, hand searching, and clinicaltrials.gov. RESULTS: We reported and discussed the toxicity of RT and the improvements due to the modern techniques in the setting of BC patients. CONCLUSIONS: BC patients often have a long life expectancy, thus the RT should aim at limiting toxicities and at the same time maintaining the same high cure rates. Further studies are needed to evaluate the risk-benefit ratio to identify patients at higher risk and to tailor the treatment choices.

Practical management of epidermolysis bullosa: consensus clinical position statement from the European Reference Network for Rare Skin Diseases.

Inherited epidermolysis bullosa (EB) comprises rare disorders that manifest with fragility and blistering of the skin and mucous membranes, with variable clinical severity. Management of EB is challenging due to disease rarity and complexity, the wide range of extracutaneous manifestations and a profound impact on daily life for the patient and family members. Although reference centres providing multidisciplinary care for EB exist in each European country, it is common for healthcare professionals that are not specialized in this rare disorder to treat EB patients. Here, experts of the European Reference Network for Rare and Undiagnosed Skin Diseases (ERN-Skin, https://ern-skin.eu) propose practical recommendations for the diagnosis and management of the commonest clinical issues, skin blisters and wounds, oral manifestations, pain and itch.

Diversity of Secondary Metabolism in Aspergillus nidulans Clinical Isolates.

The filamentous fungus Aspergillus nidulans has been a primary workhorse used to understand fungal genetics. Much of this work has focused on elucidating the genetics of biosynthetic gene clusters (BGCs) and the secondary metabolites (SMs) they produce. SMs are both niche defining in fungi and of great economic importance to humans. Despite the focus on A. nidulans, very little is known about the natural diversity in secondary metabolism within this species. We determined the BGC content and looked for evolutionary patterns in BGCs from whole-genome sequences of two clinical isolates and the A4 reference genome of A. nidulans Differences in BGC content were used to explain SM profiles determined using liquid chromatography-high-resolution mass spectrometry. We found that in addition to genetic variation of BGCs contained by all isolates, nine BGCs varied by presence/absence. We discovered the viridicatumtoxin BGC in A. nidulans and suggest that this BGC has undergone a horizontal gene transfer from the Aspergillus section Nigri lineage into Penicillium sometime after the sections Nigri and Nidulantes diverged. We identified the production of viridicatumtoxin and several other compounds previously not known to be produced by A. nidulans One isolate showed a lack of sterigmatocystin production even though it contained an apparently intact sterigmatocystin BGC, raising questions about other genes and processes known to regulate this BGC. Altogether, our work uncovers a large degree of intraspecies diversity in BGC and SM production in this genetic model species and offers new avenues to understand the evolution and regulation of secondary metabolism.IMPORTANCE Much of what we know about the genetics underlying secondary metabolite (SM) production and the function of SMs in the model fungus Aspergillus nidulans comes from a single reference genome. A growing body of research indicates the importance of biosynthetic gene cluster (BGC) and SM diversity within a species. However, there is no information about the natural diversity of secondary metabolism in A. nidulans We discovered six novel clusters that contribute to the considerable variation in both BGC content and SM production within A. nidulans We characterize a diverse set of mutations and emphasize how findings of single nucleotide polymorphisms (SNPs), deletions, and differences in evolutionary history encompass much of the variation observed in nonmodel systems. Our results emphasize that A. nidulans may also be a strong model to use within-species diversity to elucidate regulatory cross talk, fungal ecology, and drug discovery systems.

Concomitant medullary thyroid carcinoma with paraganglioma-like pattern and papillary thyroid carcinoma.

SUMMARY: A 74-year-old man was referred to the Endocrinology Unit because of multinodular goiter. The dominant nodule (1.7 × 1.9 × 2.4 cm), at the medium-superior third of the left lobe, was inhomogeneously hypoechoic, with irregular margins, macrocalcifications and intranodular vascularization. Fine-needle aspiration biopsy (FNAB) was performed. The cytological diagnosis was TIR 2, benign, according to the 2013 Italian thyroid cytology classification system. Moderately high serum calcitonin (s-Ct) (61.5 pg/mL, n.r. 0-7.5) and normal CEA were detected. The Ct level in FNAB wash-out fluid (Ct-FNAB) was 1450 pg/mL. Based on s-Ct and Ct-FNAB levels, patient underwent total thyroidectomy. Macroscopically, a dominant circumscribed nodule of 2 ecm was described; the histological and immunohistochemical features identified medullary thyroid carcinoma (MTC) with paraganglioma (PG)-like pattern positive for Ct, CEA and chromogranin and negative for S-100 sustentacular cells (SC). Moreover, papillary carcinoma of 3 mm in the right lobe was also associated. No areas of hyperaccumulation of the tracer were documented at Ga68 PET/CT. No RET-proto-oncogene mutations were found. Post-surgery s-Ct levels were within normal range (4 pg/mL). Two years after thyroidectomy, the patient is still disease-free. We reported a case of sporadic and rare variant of MTC: this is the ninth described case of PG-like MTC. In this case, cytologically benign, the clinical suspicion arose from high Ct values at FNAB wash-out fluid. Even if clinical behavior of this variant seems indolent, additional studies are necessary to understand prognoses and predictive factors. LEARNING POINTS: Several unusual histological variants of medullary thyroid carcinoma (MTC) have been described such as spindle cell, giant cell, clear cell, melanotic, squamous, angiosarcoma-like variants; even rarer is the paraganglioma (PG)-like pattern. We here describe a case of medullary PG-like thyroid carcinoma in a 74-year-old man. This is a rare histological variant of MTC hardly diagnosed by cytology, since immunohistochemical investigations are necessary. Measurement of calcitonin both in serum and in wash-out fluid from fine-needle aspiration could be an additional tool for an early and non-invasive identification of these variants.

Glycaemic variability is associated with severity of coronary artery disease in patients with poorly controlled type 2 diabetes and acute myocardial infarction.

BACKGROUND: In patients with type 2 diabetes (T2D), glycaemic variability (GV), another component of glycaemic abnormalities, is a novel potentially aggravating factor for coronary artery disease (CAD). OBJECTIVES: The aim of our study was to identify interactions between GV and severity of CAD in diabetes patients admitted for acute myocardial infarction (AMI). METHODS: All patients with T2D admitted to our university hospital for AMI from March 2015 to February 2017 who received intravenous (IV) insulin therapy and underwent coronary angiography were included. GV was assessed by mean amplitude of blood glucose excursion (MAGE) values taken within 2 days of admission. Patients with higher GV (highest MAGE tertile) were compared with those with lower GV (first and second MAGE tertiles). RESULTS: A total of 204 patients were included: median age was 72 (61-81) years; 32% were female; HbA1c was 7.3% (6.4-8.2%); diabetes duration was 10 (2-17.5) years; and MAGE value was 0.65 (0.43-0.92) g/L. Compared with those with lower GV, patients with the highest GV were more often women, treated with previous insulin, and had higher blood glucose and HbA1c levels. In addition, patients with elevated GV had significantly higher SYNTAX scores: 17 (10-28) vs. 12 (6-22) (P = 0.009). Indeed, SYNTAX scores (OR: 1.05, 95% CI: 1.02-1.08; P = 0.001) remained independently associated with high GV beyond HbA1c levels (OR: 1.51, 95% CI: 1.2-1.89; P < 0.001). CONCLUSION: In AMI patients with poorly controlled diabetes, GV is associated with CAD severity beyond chronic hyperglycaemia. Although no causality can be determined from our observational study, the results suggest that, in AMI, early evaluation of GV might contribute to the identification of those diabetes patients at high risk, and serve as a therapeutic target for both primary and secondary prevention.

Adenocarcinoma mucosecretante como complicación de la hidradenitis supurativa / Mucinous adenocarcinoma in association with hidradenitis suppurativa

El primer caso de adenocarcinoma mucosecretante asociado a una hidradenitis supurativa crónica, es presentado. La paciente posee una historia de 10 años de su hidradenitis; cuando esta se localiza en el área perineo-genital puede surgir un cáncer subyacente, siendo el carcinoma espinocelular el más frecuente. La enferma se sometió a una resección local amplia pero con un criterio paliativo. Se discute el tratamiento de la neoplasia, al igual que la incidencia de la misma bajo el tratamiento biológico, con adalimumab.

This is the first case in Argentina of Hidradenitis Suppurativa associated with a perianal mucinous carcinoma. Hidradenitis suppurativa is a common disorder, probably autoinflammatory in apocrine bearing skin. When the lesions are located in genital and perineal areas they may be associated with cancer, usually squamous cell carcinoma. We describe a case of a 46-year-woman who has a history of 10 years of hidradenitis suppurativa and developed a big mucinous adenocarcinoma. Treatment is discussed tough the gold standard is the resection abdominoperineal. Our case was treated with a palliative criterion with a wide local surgery. Adalimumab is an accepted treatment for the chronic inflammation in the hidradenitis suppurativa; we do not believe this drug cause or worse the outcome of the malignant neoplasia.

Comparison between Bilistick System and transcutaneous bilirubin in assessing total bilirubin serum concentration in jaundiced newborns.

OBJECTIVE: To compare the performance and accuracy of the JM-103 transcutaneous bilirubinometer and Bilistick System in measuring total serum bilirubin for the early identification of neonatal hyperbilirubinemia. STUDY DESIGN: The study was performed on 126 consecutive term and near-term (⩾36 weeks' gestational age) jaundiced newborns in Cairo University Children Hospital NICU, Egypt. Total serum bilirubin was assayed concurrently by the clinical laboratory and Bilistick System and estimated using the JM-103 transcutaneous bilirubin instrument. Bland-Altman analysis was used to evaluate the agreement between determinations. RESULT: The limits of agreement of the Bilistick System (-5.8 to 3.3 mg dl-1) and JM-103 system (-5.4 to 6.0 mg dl-1) versus the clinical laboratory results were similar. CONCLUSION: The Bilistick System is an accurate alternative to transcutaneous (TcB) determination for early diagnosis and proper management of the neonatal jaundice.

Randomised, double-blind, placebo-controlled, assessment of the efficacy and safety of dietary supplements in prehypertension.

We aimed to evaluate efficacy and tolerability of a protocol including lifestyle modifications and a novel combination of dietary supplements in prehypertension. A prospective, double-blind, randomised, placebo-controlled trial was conducted in 176 subjects (103 men, aged 52±10 years), with blood pressure (BP) of 130-139 mm Hg systolic and/or 85-89 mm Hg diastolic entered. After a single-blind run-in period, participants were randomised to twice daily placebo (n=88) or a commercially available combination pill (n=88). Primary endpoints were the differences in clinic BP between the two groups at the end of the trial. Secondary endpoints included intragroup differences in clinic BP during the study period and response rates (that is, BP <130/85 mm Hg or a BP reduction >5 mm Hg on week 12). Baseline characteristics were similar among the treatment groups. At 12 weeks, the supplement group had lower systolic BP (124±9 versus 132±7 mm Hg, P<0.0001) and similar diastolic BP (81±8 versus 82±7 mm Hg, P=0.382) compared to the placebo group. With respect to baseline measures, changes in BP with supplements were statistically significant for systolic (-9.3±4.2 mm Hg, P<0.0001) and diastolic values (-4.2±3.6 mm Hg, P<0.0001). Changes versus baseline in systolic and diastolic BP, conversely, were not different on placebo. The overall response rate at week 12 was significantly greater with supplements than placebo (58% (51 of 88) and 25% (22 of 88), respectively, P<0.0001). This randomised trial shows that combination of supplements with BP-lowering effect is an effective additional treatment to conventional lifestyle modifications for a better control of systolic BP in prehypertension.

Validation of the Composite Autonomic Symptom Score 31 (COMPASS 31) for the assessment of symptoms of autonomic neuropathy in people with diabetes.

AIM: To validate the Composite Autonomic Symptom Score (COMPASS) 31, in its Italian version, for the diagnosis of diabetic cardiovascular autonomic neuropathy in a clinic-based, single-centre study. METHODS: A total of 73 participants with diabetes (age 55 ± 14 years) completed the COMPASS 31 questionnaire before undergoing cardiovascular autonomic neuropathy and diabetic polyneuropathy assessment according to cardiovascular reflex tests, neuropathic symptoms and signs, and vibration and thermal thresholds. RESULTS: The COMPASS 31 total weighted score differed between participants with and without cardiovascular autonomic neuropathy (29.9 ± 19.5 vs 16.1 ± 14.7; P = 0.003) and with and without diabetic polyneuropathy (28.9 ± 19.1 vs 12.7 ± 11.3; P < 0.0001). It was related to cardiovascular reflex tests score (rho = 0.38, P = 0.0013) as well as diabetic polyneuropathy symptoms (rho=0.61, P < 0.0001) and signs scores (rho = 0.49, P < 0.0001). Receiver-operating curve analysis showed a fair diagnostic accuracy of total score for cardiovascular autonomic neuropathy (area under the curve 0.748 ± 0.068, 95% CI 0.599-0.861) and diabetic polyneuropathy (area under the curve 0.742 ± 0.061, 95% CI 0.611-0.845). The best score thresholds were 16 for early cardiovascular autonomic neuropathy (sensitivity 75.0%, specificity 64.9%, positive predictive value 37.5% and negative predictive value 90.2%), and 17 for both confirmed cardiovascular autonomic neuropathy and diabetic polyneuropathy (sensitivity 70.0% and 65.5%, respectively; specificity 66.7% and 79.5%, respectively; positive predictive value 25.0% and 67.9%, respectively; and negative predictive value 93.0% and 77.8%, respectively). COMPASS 31 had a good internal consistency according to Cronbach's α coefficient of 0.73. CONCLUSIONS: COMPASS 31 can represent a valid, easy-to-use, quantitative assessment tool for autonomic symptoms in diabetic neuropathy, with a fair diagnostic accuracy for both cardiovascular autonomic neuropathy and diabetic polyneuropathy.

Gut-borne Saccharomyces cerevisiae, a promising candidate for the formulation of feed additives, modulates immune system and gut microbiota.

The aim was to evaluate the effect of Saccharomyces cerevisiae RC016 on immune parameters and gut microbiota in healthy mice. Animals received S. cerevisiae RC016 for 10 days. Microbial translocation to liver and changes in some bacterial populations in caecum were determined. Immune stimulation was assessed at gut level (measure ofimmunoglobulin A (IgA)+ cells and luminal cytokine profile) and by evaluating the activity of peritoneal macrophages. Oral administration of S. cerevisiae RC016 did not induce microbial translocation to liver. Mice that received yeast increased the number of IgA+ cells in their intestines, the phagocytic activity of peritoneal macrophages and decreased tumour necrosis factor alpha (TNF-α) levels in the small intestine with increases of interleukin-10/TNF-αratio. Administration of S. cerevisiae RC016 caused the decline of a logarithmic unit for Enterobacteriaceae counts compared to the control. The immune and gut microbiota modulation observed demonstrates that S. cerevisiae RC016 is a promising candidate for the formulation of feed additives to improve animal productivity. The beneficial in vivo effects observed for the potential probiotic S. cerevisiae RC016 with previously reported mycotoxin-bindingproperties, demonstrated that this strain could be suitable to be included in a novel product to improve animalproductivity, with both probiotic and mycotoxin-binding properties. However, studies in the specific host will be necessary to confirm this potential.

Mixofibrosarcoma de bajo grado de la pared torácica / A low-grade myxofibrosarcoma of the chest wall

El mixofibrosarcoma es una neoplasia maligna infrecuente, que puede originarse en los tejidos blandos, se lo ha estadificado como de alto o bajo grado y la localización más frecuente son los miembros inferiores. El reconocimiento clínico del mismo es dificultoso, en primer lugar porque la clínica de otros sarcomas de partes blandas es similar y además semejan lipomas o aún quistes. La extirpación quirúrgica amplia es el tratamiento de elección, por la propensión de este sarcoma a la recidiva local. Los catalogados como de alto grado en un 30 % de los casos, pueden originar metástasis a distancia, especialmente a hueso, pulmón y ganglios linfáticos. La histopatología asegura el diagnóstico en la mayoría de los casos. Comunicamos el caso de un mixofibrosarcoma de bajo grado, en un hombre de 43 años, que a los tres años de control evolutivo, luego de la resección quirúrgica, no presenta recaída local ni distante.

Myxofibrosarcoma is an uncommon soft tissue sarcoma that is grading as low or high malignancy. The principal sites of involvement are the lower limbs. Clinical recognition is difficult since it resembles a cyst, a lipoma, other soft tissue sarcoma or even benign conditions as panniculitis. The wide surgical excision is the main therapeutic approach because local recurrence is frequent. The high grade variant is associated in 30 % of the cases with distant metastasis, especially to the lung, bone and lymph nodes. The histopathological features allow an accurate diagnosis in most cases. A 43 year-old man with a myxofibrosarcoma of the chest wall is reported with a follow-up of two years without recurrence.

Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.

INTRODUCTION: Thrombocytopenia-absent radius (TAR) syndrome is a rare autosomal recessive disease. Patients are compound heterozygotes for a loss-of-function allele, which in most cases is a large genomic deletion on chromosome 1q21.1 containing the RBM8A gene, and a noncoding variant located in the 5'UTR (rs139428292) or intronic (rs201779890) regions of RBM8A. As the molecular genetic testing in TAR requires multiple techniques for detection of copy-number variations (CNV) and nucleotide substitutions, we tested whether a next-generation sequencing (NGS) approach could identify both alterations. METHODS: Two unrelated families were analyzed with Ion PGM sequencing using a target panel of genes responsible for different forms of inherited thrombocytopenia. A statistical quantitative evaluation of amplicon coverage was performed to detect CNV, in particular those on the RBM8A gene. RESULTS: All the probands were apparently homozygous for the rare allele inherited by the father at the rs139428292 locus, suggesting the presence of a deletion on the maternal chromosome. The statistical analysis confirmed the hemizygous condition of RBM8A. CONCLUSION: We concluded that NGS approaches could be used as a cost-effective method for molecular investigation of TAR as they could simultaneously detect CNV and point mutations.