When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review.

cardiomyopathy is a rare genetic disorder that manifests early in life with an autosomal dominant inheritance pattern. It harbors left ventricular hypertrophy (LVH), ventricular pre-excitation and progressively worsening conduction system defects. Its estimated prevalence among patients with LVH ranges from 0.

The : How to define the hemodilution of bone marrow samples in lymphoproliferative diseases.

Introduction: Minimal residual disease (MRD) is commonly assessed in bone marrow (BM) aspirate. However, sample quality can impair the MRD measurement, leading to underestimated residual cells and to false negative results. To define a reliable and reproducible method for the assessment of BM hemodilution, several flow cytometry (FC) strategies for hemodilution evaluation have been compared.

Clonal and subclonal TP53 molecular impairment is associated with prognosis and progression in multiple myeloma.

Aberrations on TP53, either as deletions of chromosome 17p (del17p) or mutations, are associated with poor outcome in multiple myeloma (MM), but conventional detection methods currently in use underestimate their incidence, hindering an optimal risk assessment and prognostication of MM patients. We have investigated the altered status of TP53 gene by SNPs array and sequencing techniques in a homogenous cohort of 143 newly diagnosed MM patients, evaluated both at diagnosis and at first relapse: single-hit on TP53 gene, either deletion or mutation, detected both at clonal and sub-clonal level, had a minor effect on outcomes. Conversely, the coexistence of both TP53 deletion and mutation, which defined the so-called double-hit patients, was associated with the worst clinical outcome (PFS: HR 3.

-mutated malignant melanoma with chondrosarcomatous differentiation in inguinal nodal metastasis.

We report the case of a young woman who developed metastatic melanoma in the inguinal nodal region, which acquired chondrosarcomatous differentiation and preserved the BRAF mutation found in the primary tumor. The patient was treated with a BRAF/MEK inhibitor combination therapy (dabrafenib/trametinib), which was demonstrated to be effective and well-tolerated.

Sex Differences in Modifiable Risk Factors and Severity of Coronary Artery Disease.

Background It is still unknown whether traditional risk factors may have a sex-specific impact on coronary artery disease (CAD) burden. Methods and Results We identified 14 793 patients who underwent coronary angiography for acute coronary syndromes in the ISACS-TC (International Survey of Acute Coronary Syndromes in Transitional Countries; Clini​calTr​ials.gov, NCT01218776) registry from 2010 to 2019.

Searching for novel multimodal treatments in oligometastatic pancreatic cancer.

Background: Metastatic pancreatic cancer has a median overall survival of less than 12 months, even if treated with chemotherapy. Selected patients with oligometastatic disease could benefit from multimodal treatments connecting chemotherapy and surgical treatment or radiofrequency ablation (RFA) of metastases.

Case Presentation: We present a patient with oligometastatic pancreatic cancer recurrence who was successfully treated with a multimodal therapeutic approach.

A suspicious dark lesion in a boy.

The presence of history of hyperpigmented crust in a patient with a history of adequate hygiene is typical of terra firma-forme dermatosis. The treatment is the rubbing of the skin with isopropyl alcohol (removal of the hyperpigmented brown crust, confirming the diagnosis). Physicians should be aware because early diagnosis avoid unnecessary treatment.

Sex-Specific Treatment Effects After Primary Percutaneous Intervention: A Study on Coronary Blood Flow and Delay to Hospital Presentation.

Background We hypothesized that female sex is a treatment effect modifier of blood flow and related 30-day mortality after primary percutaneous coronary intervention ( PCI ) for ST -segment-elevation myocardial infarction and that the magnitude of the effect on outcomes differs depending on delay to hospital presentation. Methods and Results We identified 2596 patients enrolled in the ISACS - TC (International Survey of Acute Coronary Syndromes in Transitional Countries) registry from 2010 to 2016. Primary outcome was the occurrence of 30-day mortality.

Copy number gain of chromosome 3q is a recurrent event in patients with intraductal papillary mucinous neoplasm (IPMN) associated with disease progression.

Background: Intraductal papillary mucinous neoplasm (IPMN) is the most common cystic preneoplastic lesion of pancreatic cancer. We used an approach coupling high resolution cytogenetic analysis (Affymetrix Oncoscan FFPE Array) with clinically-oriented bioinformatic interpretation of data to understand the most relevant alterations of precursor lesions at different stages to identify new diagnostic markers.

Results: We identified multiple copy number alterations, particularly in lesions with severe dysplasia, with 7 IPMN with low-intermediate dysplasia carrying a nearly normal karyotype and 13 IPMN with complex Karyotype (> 4 alterations), showing high grade dysplasia.

Spitz nevi: defining features and management in children.

We reviewed literature data in order to better define clinical features of Spitz nevi (SNi) in children. Lots of interest has been given in the past decade to these neoplasms that due the clinical course and sometime the rapid onset, may often cause worrisome consultations. Dermoscopy has played an important role in the improved diagnostic capability of clinicians, regarding all melanocytic neoplasms and also SNi.

Androgenetic alopecia.

Androgenetic alopecia (AGA) is the most common form of alopecia, affecting up to 80% of men and 50% of women in the course of their life. AGA is caused by a progressive reduction in the diameter, length and pigmentation of the hair. Hair thinning results from the effects of the testosterone metabolite dehydrotestosterone (DHT) on androgen-sensitive hair follicles.

Update on the management of onychomycosis.

Onychomycosis is a fungal infection of the nail which is highly prevalent in the general population, particularly among older individuals. Patients seek care because the disease is infectious or simply for an esthetic discomfort. The difficulty in treating onychomycosis results from the deep-seated nature of the infection within the nail unit and the inability of drugs to effectively reach all sites.