Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Pathogenic variants in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial function. Within this group, an increasing number of families have been identified, where Mendelian genetic disorders implicate defective mitochondrial RNA biology. The PDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs.

SARS-CoV-2 infection as cause of in-utero fetal death: regional multicenter cohort study.

Objective: Placental infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can lead to placental insufficiency and in-utero fetal death (IUFD). The objective of this study was to confirm and quantify the extent to which fetoplacental infection with SARS-CoV-2 is a cause of fetal death.

Methods: This was a multicenter retrospective cohort study of fetal deaths that underwent postmortem examination between January 2020 and January 2022 in three fetal pathology units in Paris, France.

Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.

Background: Hereditary lymphedema 1 is a rare congenital condition, characterized by the development of chronic swelling in body parts. It is highly variable in expression and age of onset with different presentations: from feet edema to hydrops fetalis. This affection is genetically heterogeneous with autosomal dominant inheritance and incomplete penetrance due to a mutation in the FLT4 gene in most cases.

Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation.

Dandy-Walker malformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound and antenatal or postnatal MRI. Specific radiological criteria are used to distinguish them, yet little is known about their differential developmental disease mechanisms. We acquired prenatal cases diagnosed as DWM and CVH and studied cerebellar morphobiometry followed by histological and immunohistochemical analyses.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

Purpose: Despite a few recent reports of patients harboring truncating variants in NSD2, a gene considered critical for the Wolf-Hirschhorn syndrome (WHS) phenotype, the clinical spectrum associated with NSD2 pathogenic variants remains poorly understood.

Methods: We collected a comprehensive series of 18 unpublished patients carrying heterozygous missense, elongating, or truncating NSD2 variants; compared their clinical data to the typical WHS phenotype after pooling them with ten previously described patients; and assessed the underlying molecular mechanism by structural modeling and measuring methylation activity in vitro.

Results: The core NSD2-associated phenotype includes mostly mild developmental delay, prenatal-onset growth retardation, low body mass index, and characteristic facial features distinct from WHS.

Cerebral perfusion strategy in a challenge cerebral vessels debranching.

We present a case of antegrade cerebral perfusion based on a circuit with a centrifugal pump for general open-heart surgery to achieving cerebral protection during a challenging hybrid aortic arch repair.

Urgent Surgery for Pituitary Adenoma Bleeding After Coronary Bypass Surgery.

Pituitary gland adenoma bleeding is an uncommon complication after coronary artery surgery. Clinical presentation may be variable. We report a case of hemorrhagic complication of a pituitary gland adenoma requiring urgent surgery in a 60-year-old male patient who underwent coronary artery bypass grafting operation.

Total Endovascular Aortic Arch Repair with Branched Graft.

In selected cases, the utilization of branched endografts for the treatment of aortic arch aneurysms could be a safe and advantageous alternative to high-risk procedures such as open total aortic arch replacement or hybrid arch repair. We present the case of a 70-year-old man with saccular aneurysm of a bovine aortic arch which was endovascularly treated using a double-branched custom-made aortic endoprosthesis based on the Relay NBS (Non-Bare Stent) Plus platform intended for zone 0 deployment. The postoperative clinical course was uneventful.

Cardiac kinematic parameters computed from video of in situ beating heart.

Mechanical function of the heart during open-chest cardiac surgery is exclusively monitored by echocardiographic techniques. However, little is known about local kinematics, particularly for the reperfused regions after ischemic events. We report a novel imaging modality, which extracts local and global kinematic parameters from videos of in situ beating hearts, displaying live video cardiograms of the contraction events.

Hepatosplenic Candidiasis Detected by (18)F-FDG-PET/CT.

Hepatosplenic candidiasis is a fungal infection, which mostly affects patients with hematologic malignancies such as leukemia. The pathogenesis of this infection is not clear yet, and the liver is the most commonly affected organ. Diagnosis of hepatosplenic candidiasis can be only established via biopsy, since computed tomography (CT) scan, ultrasonography, and magnetic resonance imaging (MRI) yield non-specific results.

A Case of Acrodermatitis Continua of Hallopeau Following Chronic Pustular Cheilitis.

We describe the case of a young male affected by chronic pustular psoriasis of the lips that remained the only manifestation of acrodermatitis continua of Hallopeau (ACH) for years before the onset of the characteristic hand lesions.

Carcinoma Cuniculatum of the Foot Invading the Bone Mimicking a Pseudo-Epitheliomatous Reaction to an Acute Osteomyelitis.

Carcinoma cuniculatum is a rare variant of squamous cell carcinoma. The clinical presentation is usually a non-verrucous exophytic plaque or tumor of the plantar region with a penetration in the deep tissues. Histological examination shows a proliferation of well-differentiated keratinocytes.

Seaweed floating in the pericardium: a rare case of primary dedifferentiated liposarcoma.

Primary cardiac tumors are uncommon and primary liposarcoma of the pericardium is extremely rare. We describe the case of a 55-year-old Caucasian woman without significant medical history, who presented with 3weeks complain of dyspnea, peripheral edema, and gain weight. Echocardiography revealed a huge pericardial mass confirmed by computed tomography and by magnetic resonance.

Hemoglobin Concentration Affects Electroencephalogram During Cardiopulmonary Bypass: An Indication for Neuro-Protective Values.

Hemodilution during cardiopulmonary bypass (CPB) is widely used to decrease transfusion and improve microcirculation but has drawbacks, such as diminished hemoglobin levels. Among others, reduced brain oxygenation accounts for neurological adverse outcomes after CPB. The aim of the present study was to ascertain if and how continuous electroencephalogram (EEG) during CPB is affected by hematocrit level and what should be the minimum value to avoid significant frequency band shifts on the EEG.

In which patients is transcatheter aortic valve replacement potentially better indicated than surgery for redo aortic valve disease? Long-term results of a 10-year surgical experience.

Background: Redo aortic valve replacement procedures have been reduced by the growing practice of trans-catheter aortic valve-in-valve procedures. We analyzed our long-term results of redo aortic valve replacement procedures during a 10-year period in an effort to define subgroups in which trans-catheter aortic valve-in-valve procedures may be better than surgery.

Methods: From 2002 to 2010, 131 redo aortic valve replacement procedures with at least 18 months of follow-up were prospectively enrolled.

Emergency Thoracic Endovascular Aneurysm Repair in Acute Type B Dissection with Visceral Malperfusion.

A 46-year-old female patient was admitted to the emergency room with the sudden onset of abdominal pain, back pain, and paresthesia in the right leg. An emergent chest computed tomography (CT) showed an acute Type B aortic dissection. An emergency thoracic endovascular aneurysm repair (TEVAR) procedure was subsequently performed, for an evolving visceral malperfusion syndrome.

An Unusual Complication of Surgery for Type A Dissection Treated by Thoracic Endovascular Aortic Repair.

A 58-year-old man was admitted to our hospital for massive swelling in an anterior cervical location. Nine years earlier, he underwent surgical repair of a complex type A aortic dissection. This procedure was complicated by a fistula between the anastomosis of the graft and the descending aorta, resulting in massive presternal swelling.

Folliculocentric B-cell-rich follicular dendritic cells sarcoma: a hitherto unreported morphological variant mimicking lymphoproliferative disorders.

We report three cases of follicular dendritic cell sarcoma (FDCS) showing a hitherto undescribed histological pattern consisting of nodular tumor growth associated with small B lymphocytes. FDCS tumor cells consistently showed large epithelioid features and were intermingled with small lymphocytes in the nodules in two cases, whereas they formed cohesive aggregates surrounded by lymphocyte mantle in the other. These features were easily confused with lymphomatous proliferations and, in particular, subtypes of Hodgkin lymphoma, high-grade follicular lymphoma, and germinotropic large B-cell lymphomas.

Epstein-Barr virus-associated adrenal smooth muscle tumors and disseminated diffuse large B-cell lymphoma in a child with common variable immunodeficiency: a case report and review of the literature.

This article reports the clinical and the histological features in a 7-year-old girl affected by common variable immunodeficiency (CVID) who developed multiple Epstein-Barr virus-associated tumors, represented by bilateral adrenal smooth muscle tumors (EBV-SMT) and multifocal diffuse large B-cell lymphoma. The EBV-SMTs showed features compatible with a benign or at least a low-malignant potential neoplasm. A peculiar feature observed in both EBV-SMTs was the occurrence of numerous lymphocytes intermingled with the spindle cells, which consisted of CD3+ CD5+ T-cells, with a predominant cytotoxic CD8+ component.

Late-onset choreoathetotic syndrome following heart surgery.

Choreoathetotic syndromes are frequently observed in children after congenital cardiopathy surgery. To report the case of an adult patient who developed a choreoathetotic syndrome after cardiac operation, probably related to a transitory hypometabolism of basal ganglia. A 52-year-old patient underwent heart surgery under circulatory arrest and deep hypothermia, for type III dissecting thoracic aorta aneurysm.