Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders.

Introduction: Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases have been described in small or general studies. The aim of our work was to consolidate our understanding of NTRK2-related disorders and to delineate the clinical presentation METHODS: We report extended cohort of 44 affected individuals, of whom 19 are from the literature and 25 were previously unreported.

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

Purpose: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex.

Methods: Exome sequencing was used to identify genetic variants in all cases, recruited through Matchmaker exchange. Gene expression in blood was analyzed using reverse transcription polymerase chain reaction.

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis.

Background: We studied a young woman with atypical diabetes associated with mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative syndrome including distichiasis. We used different genetic tools to identify causative pathogenic mutations and/or copy number variations.

Results: Although proband's, diabetes mellitus occurred during childhood, type 1 diabetes was unlikely due to the absence of detectable autoimmunity.

[Dermatological manifestations of COVID-19].

Besides the principal respiratory symptoms, the COVID-19 has been associated with an important array of dermatological manifestations. However, it is not always easy to distinguish whether these skin manifestations are the result of a direct action of the virus on epidermal and/or dermal cell populations, represent a paraviral phenomenon or are a rather fortuitous association. In this review the principal cutaneous manifestations associated with COVID-19 are described as well as their eventual value in terms of diagnostic aid or as prognostic factor.

Cutaneous Breast Cancer Metastases Successfully Treated Using an Oxygen Flow Assisted Topical Administration of Methotrexate (OFAMTX).

Introduction: Cutaneous metastases of breast cancer remain a therapeutic challenge. Oxygen flow-assisted topical administration of methotrexate 5% (OFAMTX, 5% methotrexate in a carrier solution) has recently been proven to be an efficacious alternative treatment for extramammary Paget's disease, which is considered to be an in situ mammary adenocarcinoma of the epidermis.

Case Report: A 51-year-old patient with triple negative breast cancer presenting with biopsy-proven skin metastases on the chest agreed to a treatment with OFAMTX5%.

Risankizumab-Aggravated Crusted Scabies in a Patient with Down Syndrome.

Risankizumab, an interleukin (IL)-23 antagonist, is a highly effective treatment for moderate to severe psoriasis. Crusted scabies (CS) is a rare and severe form of scabies, occurring mainly in immunosuppressed patients and/or neurologically or mentally ill patients. A young girl with Down syndrome was diagnosed with a hyperkeratotic form of psoriasis.

[Severe crusted scabies: A "historic" case involving the death of a 52-year-old patient].

Background: Crusted scabies, also known as Norwegian scabies, is a rare and extremely debilitating form of Sarcoptes scabiei var. hominis infestation that generally occurs in immunosuppressed patients. Herein, we report a "historic" and fatal case.

[Crusted scabies: A review].

Crusted scabies is a rare and severe form of infestation by Sarcoptes scabies var. hominis. It is characterized by profuse hyperkeratosis containing over 4000 mites per gram of skin, with treatment being long and difficult.

Hemodynamic effects of a new antiarrhythmic agent: cibenzoline.

The hemodynamic effects of an intravenous dose of 1 mg/kg of Cibenzoline, a new anti-arrhythmic agent with properties of classes I, III and IV of the Vaughan-Williams classification, were studied in 9 patients during routine cardiac catheterization. Six patients had valvular heart disease (aortic insufficiency in 5 and mitral stenosis in 1), one patient had ischemic heart disease, one patient had alcoholic cardiomyopathy and the remaining patient had coarctation of the thoracic aorta. Left ventricular pressure and right sided intracardiac pressures were recorded using a high fidelity transduced and a Swan-Ganz catheter respectively.

[Hemodynamic effects of sublingual molsidomine in patients with or without cardiac failure].

A haemodynamic study was performed in 12 men aged between 28 and 64 years, including 8 with clinical signs of congestive cardiac failure and an ejection fraction of less than 50 per cent. The pulmonary artery pressure, capillary pressure, left ventricular pressure, cardiac output and the arterial and venous oxygen tensions were measured before (T 0) and after sublingual administration of 4 mg of molsidomine (T 15, T 30, T 45, T 60 min) and 3 minutes after a dose of 0.6 mg sublingual trinitrine (given immediately after the measurements made at T 60).

[Bacterial endocarditis and echocardiography].

The authors present a case of enterococcal bacterial endocarditis in which a high degree of correlation was found between the echocardiographic findings and the anatomical lesions found at autopsy. They review the value of echocardiography as a simple non-invasive technique in the diagnosis and assessment of bacterial endocarditis.