Casuística del carcinoma intraductal de mama en el Hospital Universitario Son Dureta

Objective

To determine the incidence rates and clinical presentation of ductal carcinoma in situ of the breast, as well as its pathologic characteristics, the forms of treatment used, and outcomes.

Subjects and method

We performed a retrospective study with review of 83 consecutive patients with a histopathological diagnosis of ductal carcinoma in situ (DCIS) of the breast from January 1st, 1990 to December 31st, 2004 in the Son Dureta University Hospital in Palma, Majorca.

Results

Breast DCIS accounted for 3.5% of all breast carcinomas identified in our hospital in the previous 15 years. The most frequent age at diagnosis ranged from 50 to 64 years. Seventy-two percent of the lesions were detected by mammography. Total mastectomy was performed in 57% of the patients, and treatment with breast preservation was carried out in 37%. The recurrence rate was 4%, with an overall survival rate of 100%.

Conclusions

Screening mammography identifies very small cancers. Involvement of the surgical margins is a determining factor for local treatment of breast cancer and is an accurate predictor of risk of recurrence. Disease-free survival is almost 100% in patients undergoing mastectomy, although the preferred therapy in cases of DCIS is local treatment with breast conservation.     

How Do We Define Congenital Heart Defects for Scientific Studies?

Estimates of the prevalence of congenital heart defects (CHD) have been published over many years and from many regions. As they are based on different definitions of which cases to include in the CHD prevalence, published prevalence estimates vary substantially. With the increasing use of echocardiography in neonatal intensive care, a patent ductus arteriosus (PDA) or flow over the atrial septum will often be visible. These findings may be coded as CHD at discharge and in this way falsely increase the CHD prevalence in the population. There are several purposes for which population‐based data on CHD may be used: etiology, planning of treatment, or obtain information on outcome, including mortality. For etiology studies, it is important to include terminations of pregnancy as well as all births with CHD. For mortality studies in live births, inclusion of preterm born infants with PDA will increase overall mortality of CHD. The Danish Register of Congenital Heart Disease is based on hospital discharge diagnoses and diagnoses from outpatient visits. To increase the validity of these data, extensive data cleaning has been carried out based on record review and knowledge on the discharge coding practice. We include PDA and atrial septal defects as CHD cases if these defects are still open 2 months after birth. International consensus on how to define CHD would improve the validity and comparability of epidemiological studies on CHD.     

Colonic Microbiota Profile Characterization of the Responsiveness to Dietary Fibre Treatment in Hypercholesterolemia

This study aimed to determine how the microbiota profile might be predisposed to a better response in blood lipid profiles due to dietary fibre supplementation. A three-arm intervention study that included three different fibre types (mainly insoluble, soluble, and antioxidant fibre) supplemented (19.2 g/day) during 2 months in individuals with hypercholesterolemia was developed. Changes in faecal microbiota and blood lipid profile after fibre supplementation were determined. In all volunteers, regardless of fibre type, an increase in the abundance of Bifidobacterium was observed, and similarly, an inverse relationship between faecal propionic acid and blood LDL-cholesterol, LDL particle size, and LDL/HDL particle ratio (p-values 0.0067, 0.0002, and 0.0067, respectively) was observed. However, not all volunteers presented an improvement in lipid profile. The non-responders to fibre treatment showed a decrease in microbiota diversity (Shannon and Simpson diversity index p-values of 0.0110 and 0.0255, respectively) after the intervention; where the reduction in short-chain fatty acids (SCFAs) producing bacterial genera such as Clostridium XIVa and Ruminococcus after dietary fibre treatment was the main difference. It was concluded that the non-responsiveness to dietary fibre treatment might be mediated by the lack of ability to maintain a stable SCFA producing bacteria diversity and composition after extra fibre intake.     

Autologous platelet‐rich fibrin injections in the management of facial cutaneous sinus tracts secondary to medication‐related osteonecrosis of the jaw

Medication‐related osteonecrosis of the jaws (MRONJ) is an infectious complication of antiresorptive or antiangiogenic drug therapies. In severe stages of this disease cutaneous sinus tracts may be observed. Platelet‐rich fibrin (PRF) is a second‐generation platelet concentrate used in medicine and dentistry for to promote tissue healing. This report describes the management of facial cutaneous sinus tracts secondary to MRONJ with autologous PRF injections. Eight patients with the diagnosis MRONJ and facial sinus tracts were enrolled in this study and received treatment. MRONJ lesions underwent pharmacological and surgical treatment. Sinus tracts received 1‐mL injections of PRF around the fistula using an insulin syringe once a week for four times starting from the day of the surgical treatment. After 4 weeks, six patients showed healing of the fistula and bone lesions, only one patient showed healing of the fistula, and no remission was reported in another one. All patients reported an improvement of the symptoms in the first 2 days after the treatment session. Patients were also satisfied from an aesthetic point of view. Further studies will be needed to determine if PRF is a valid therapeutic option in dermatology.     

Epidemiology of achondroplasia: A population‐based study in Europe

Achondroplasia is a rare genetic disorder resulting in short‐limb skeletal dysplasia. We present the largest European population‐based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to 28 EUROCAT registries (1991–2015) were included in the study. Prevalence, birth outcomes, prenatal diagnosis, associated anomalies, and the impact of paternal and maternal age on de novo achondroplasia were presented. The study population consisted of 434 achondroplasia cases with a prevalence of 3.72 per 100,000 births (95%CIs: 3.14–4.39). There were 350 live births, 82 terminations of pregnancy after prenatal diagnosis, and two fetal deaths. The prenatal detection rate was significantly higher in recent years (71% in 2011–2015 vs. 36% in 1991–1995). Major associated congenital anomalies were present in 10% of cases. About 20% of cases were familial. After adjusting for maternal age, fathers >34 years had a significantly higher risk of having infants with de novo achondroplasia than younger fathers. Prevalence was stable over time, but regional differences were observed. All pregnancy outcomes were included in the prevalence estimate with 80.6% being live born. The study confirmed the increased risk for older fathers of having infants with de novo achondroplasia.     

Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44

Sulfatase modifying factor 1 (SUMF1) encodes for the formylglicine generating enzyme, which activates sulfatases by modifying a key cysteine residue within their catalytic domains. SUMF1 is mutated in patients affected by multiple sulfatase deficiency, a rare recessive disorder in which all sulfatase activities are impaired. Despite the absence of canonical retention/retrieval signals, SUMF1 is largely retained in the endoplasmic reticulum (ER), where it exerts its enzymatic activity on nascent sulfatases. Part of SUMF1 is secreted and paracrinally taken up by distant cells. Here we show that SUMF1 interacts with protein disulfide isomerase (PDI) and ERp44, two thioredoxin family members residing in the early secretory pathway, and with ERGIC-53, a lectin that shuttles between the ER and the Golgi. Functional assays reveal that these interactions are crucial for controlling SUMF1 traffic and function. PDI couples SUMF1 retention and activation in the ER. ERGIC-53 and ERp44 act downstream, favoring SUMF1 export from and retrieval to the ER, respectively. Silencing ERGIC-53 causes proteasomal degradation of SUMF1, while down-regulating ERp44 promotes its secretion. When over-expressed, each of three interactors favors intracellular accumulation. Our results reveal a multistep control of SUMF1 trafficking, with sequential interactions dynamically determining ER localization, activity and secretion.