Síndrome de Birt-Hogg-Dubé

A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was corroborated by identification of a novel frameshift c.573delGAinsT (p.G191fsX31) mutation in heterozygosity on exon 6 of the folliculin gene. The presence of multiple and typical benign hair follicle tumors highlights the role of the dermatologist in the diagnosis of this rare genodermatosis that is associated with an increased risk of renal cell cancer and pulmonary cysts, warranting personal and familial follow-up and counseling

Laparoscopic colorectal resection for a giant colonic diverticulum - video vignette

A giant colonic diverticulum (GCD) is a rare disease with less than 200 cases reported in the literature. By definition, a GCD is larger than 4cm in diameter with close sigmoid colon relationship in more than 90% of the cases. En bloc resection of the diverticulum with anterior sigmoid-rectal segment with primary anastomosis is the best treatment approach. The authors present a case of laparoscopic colorectal resection with partial cystectomy for a giant colonic diverticulum. A 62-years-old man with sigmoid colon diverticulosis and several episodes of diverticulitis presented at the office with a painless hypogastric/left iliac abdominal mass. CT scan showed a round 11 cm smooth walled structure filled with gas, adjacent to the sigmoid anti-mesenteric border and the urinary bladder. Four trocars were used for the laparoscopic approach. Step-by-step as follows: i. complete mobilization of colon splenic flexure. ii. Giant diverticulum dissection with partial bladder resection. iii. Bladder closure. iv. Sigmoid colon and intra-peritoneal rectum resection with primary anastomosis. The post-operative course was uneventful and the patient was discharged home on post-operative day 4. Vesical catheter was removed on post-operative day 10. Pathological specimen analysis confirmed the pre-operative diagnosis of a GCD. There is a consensus that this extremely rare diverticular disease complication should be approached with prompt standard resection due to high risk of diverticulum rupture. Laparoscopic approach seems to be feasible and safe despite of dissection higher complexity owing to the mega diverticulum. This article is protected by copyright. All rights reserved.info:eu-repo/semantics/publishedVersio

Stress-Related Growth Scale-Short Form: A Portuguese validation for cancer patients

Abstract background/objective: Cancer can be extremely disruptive, triggering high levels of distress, and at the same time transformative, promoting perceptions of positive life changes and growth. This study aims to analyze the psychometric proprieties of the Stress-Related Growth Scale Short-Form (SRGS-SF) in cancer patients. Method: 209 Cancer patients heterogeneous in disease stage and diagnosis completed: clinical and sociodemographic information, Distress Thermometer, Positive and Negative Affect Schedule, Visual-analogue Scale of Perceived Positive Life Changes, and Stress-Related Growth Scale-Short Form. Results: The analysis of internal structure pointed to an one-dimensional scale, with high reliability (.92) measured through the McDonald`s omega coefficient. Validity was also evidenced through significant correlations with other variables. Conclusions: The Portuguese version of the SRGS-SF seems to present the necessary psychometric proprieties to be considered a valid and reliable short tool, to assess perceptions of growth following cancer and contribute to targeted and integrative psycho-oncological interventions.info:eu-repo/semantics/publishedVersio

Strychnine Intoxication: A Case Report

Strychnine acts as an inhibitor of post-synaptic neuronal inhibition and intoxication leads to distinct clinical manifestations which may culminate in death. Since its commercialization is prohibited in most countries, cases of strychnine intoxication are now rare. We present a case of an elderly patient who voluntarily ingested a white powder thought to be strychnine. He developed myoclonus, startle response, and episodes of generalized muscle contractions accompanied by respiratory arrest in one occasion. Diazepam, valproic acid and supportive treatments were able to control manifestations, however the patient died after 2 days. Our aim is to alert clinicians that, despite its rarity, strychnine intoxication may still be seen in emergency departments, and clinical outcome can be influenced by rapid recognition and timely institution of adequate treatment

Community-Associated Methicillin-Resistant Staphylococcus Aureus Lacking PVL, as a Cause of Severe Invasive Infection Treated with Linezolid

Community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) is an emerging public health problem worldwide. Severe invasive infections have been described, mostly associated with the presence of Panton-Valentine leukocidin (PVL). In Portugal limited information exists regarding CA-MRSA infections. In this study we describe the case of a previously healthy 12-year-old female, sport athlete, who presented to the hospital with acetabulofemoral septic arthritis, myositis, fasciitis, acetabulum osteomyelitis, and pneumonia.The MRSA isolated from blood and synovial fluid was PVL negative and staphylococcal enterotoxin type P (SEP) and type L (SEL) positive, with a vancomycin MIC of 1.0mg/L and resistant to clindamycin and ciprofloxacin. The patient was submitted to multiple surgical drainages and started on vancomycin, rifampicin, and gentamycin. Due to persistence of fever and no microbiological clearance, linezolid was started with improvement. This is one of the few reported cases of severe invasive infection caused by CA-MRSA in Portugal,which was successfully treated with linezolid. In spite of the severity of infection, the MRSA isolate did not produce PVL

Evidence for the evolutionary steps leading to mecA-mediated ß-lactam resistance in staphylococci

The epidemiologically most important mechanism of antibiotic resistance in Staphylococcus aureus is associated with mecA–an acquired gene encoding an extra penicillin-binding protein (PBP2a) with low affinity to virtually all β-lactams. The introduction of mecA into the S. aureus chromosome has led to the emergence of methicillin-resistant S. aureus (MRSA) pandemics, responsible for high rates of mortality worldwide. Nonetheless, little is known regarding the origin and evolution of mecA. Different mecA homologues have been identified in species belonging to the Staphylococcus sciuri group representing the most primitive staphylococci. In this study we aimed to identify evolutionary steps linking these mecA precursors to the β-lactam resistance gene mecA and the resistance phenotype. We sequenced genomes of 106 S. sciuri, S. vitulinus and S. fleurettii strains and determined their oxacillin susceptibility profiles. Single-nucleotide polymorphism (SNP) analysis of the core genome was performed to assess the genetic relatedness of the isolates. Phylogenetic analysis of the mecA gene homologues and promoters was achieved through nucleotide/amino acid sequence alignments and mutation rates were estimated using a Bayesian analysis. Furthermore, the predicted structure of mecA homologue-encoded PBPs of oxacillin-susceptible and -resistant strains were compared. We showed for the first time that oxacillin resistance in the S. sciuri group has emerged multiple times and by a variety of different mechanisms. Development of resistance occurred through several steps including structural diversification of the non-binding domain of native PBPs; changes in the promoters of mecA homologues; acquisition of SCCmec and adaptation of the bacterial genetic background. Moreover, our results suggest that it was exposure to β-lactams in human-created environments that has driven evolution of native PBPs towards a resistance determinant. The evolution of β-lactam resistance in staphylococci highlights the numerous resources available to bacteria to adapt to the selective pressure of antibiotics