Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.

The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults. Variants were filtered by gnomAD allele frequencies and predictions of functional consequences.

Dysregulation of platelet serotonin, 14-3-3, and GPIX in sudden infant death syndrome.

Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant mortality, but the underlying cause(s) are unclear. A subset of SIDS infants has abnormalities in the neurotransmitter, serotonin (5-hydroxytryptamine [5-HT]) and the adaptor molecule, 14-3-3 pathways in regions of the brain involved in gasping, response to hypoxia, and arousal. To evaluate our hypothesis that SIDS is, at least in part, a multi-organ dysregulation of 5-HT, we examined whether blood platelets, which have 5-HT and 14-3-3 signaling pathways similar to brain neurons, are abnormal in SIDS.

Altered 5-HT2A/C receptor binding in the medulla oblongata in the sudden infant death syndrome (SIDS): Part II. Age-associated alterations in serotonin receptor binding profiles within medullary nuclei supporting cardiorespiratory homeostasis.

The failure of chemoreflexes, arousal, and/or autoresuscitation to asphyxia may underlie some sudden infant death syndrome (SIDS) cases. In Part I, we showed that some SIDS infants had altered 5-hydroxytryptamine (5-HT)2A/C receptor binding in medullary nuclei supporting chemoreflexes, arousal, and autoresuscitation. Here, using the same dataset, we tested the hypotheses that the prevalence of low 5-HT1A and/or 5-HT2A/C receptor binding (defined as levels below the 95% confidence interval of controls-a new approach), and the percentages of nuclei affected are greater in SIDS versus controls, and that the distribution of low binding varied with age of death.

Multiomic Analysis of Neuroinflammation and Occult Infection in Sudden Infant Death Syndrome.

Importance: Antemortem infection is a risk factor for sudden infant death syndrome (SIDS)-the leading postneonatal cause of infant mortality in the developed world. Manifestations of infection and inflammation are not always apparent in clinical settings or by standard autopsy; thus, enhanced resolution approaches are needed.

Objective: To ascertain whether a subset of SIDS cases is associated with neuroinflammation and occult infection.

Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.

Purpose: To gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID).

Methods: Whole Genome Sequencing (WGS) was performed on 145 infants that succumbed to SUID, and 576 healthy adults. Variants were filtered by gnomAD allele frequencies and predictions of functional consequences.

Altered 5-HT2A/C receptor binding in the medulla oblongata in the sudden infant death syndrome (SIDS): Part I. Tissue-based evidence for serotonin receptor signaling abnormalities in cardiorespiratory- and arousal-related circuits.

The sudden infant death syndrome (SIDS), the leading cause of postneonatal infant mortality in the United States, is typically associated with a sleep period. Previously, we showed evidence of serotonergic abnormalities in the medulla (e.g.

Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.

In sudden unexplained death in pediatrics (SUDP) the cause of death is unknown despite an autopsy and investigation. The role of copy number variations (CNVs) in SUDP has not been well-studied. Chromosomal microarray (CMA) data are generated for 116 SUDP cases with age at death between 1 and 28 months.

In Search of the Most Attractive Lip Proportions and Lip Volume: An Eye Tracking- and Survey-Based Investigation.

Background: Despite various aesthetic trends, the ideal lip proportion and lip volume remains elusive. Thus, the aim of this study was to investigate the aesthetic perception of various lip shapes to identify the most attractive lips.

Methods: Fifty-nine White study participants with a mean age of 32.

Open Carpal Tunnel Release Under WALANT - Suitable for All Ages?

Purpose: Wide-awake local anesthesia with no tourniquet (WALANT) as a walk-in procedure has become a standard technique in open carpal tunnel release (OCTR) and continues to replace the long-established intravenous regional anesthesia with a tourniquet (IVRA/"bier-block") in our clinic. The aim of this study was to compare patient satisfaction with either WALANT or IVRA/"bier-block" and define subgroups that are particularly suited for either of the two procedures. We hypothesized that older patients would prefer IVRA because of a shorter period of postoperative surveillance.

Medullary Serotonergic Binding Deficits and Hippocampal Abnormalities in Sudden Infant Death Syndrome: One or Two Entities?

Sudden infant death syndrome (SIDS) is understood as a syndrome that presents with the common phenotype of sudden death but involves heterogenous biological causes. Many pathological findings have been consistently reported in SIDS, notably in areas of the brain known to play a role in autonomic control and arousal. Our laboratory has reported abnormalities in SIDS cases in medullary serotonin (5-HT) receptor and within the dentate gyrus of the hippocampus.

X-linked serotonin 2C receptor is associated with a non-canonical pathway for sudden unexpected death in epilepsy.

Sudden Unexpected Death in Epilepsy is a leading cause of epilepsy-related mortality, and the analysis of mouse Sudden Unexpected Death in Epilepsy models is steadily revealing a spectrum of inherited risk phenotypes based on distinct genetic mechanisms. Serotonin (5-HT) signalling enhances post-ictal cardiorespiratory drive and, when elevated in the brain, reduces death following evoked audiogenic brainstem seizures in inbred mouse models. However, no gene in this pathway has yet been linked to a spontaneous epilepsy phenotype, the defining criterion of Sudden Unexpected Death in Epilepsy.

Airway basal stem cells generate distinct subpopulations of PNECs.

Pulmonary neuroendocrine cells (PNECs) have crucial roles in airway physiology and immunity by producing bioactive amines and neuropeptides (NPs). A variety of human diseases exhibit PNEC hyperplasia. Given accumulated evidence that PNECs represent a heterogenous population of cells, we investigate how PNECs differ, whether the heterogeneity is similarly present in mouse and human cells, and whether specific disease involves discrete PNECs.

[Current review of factors in the stem cell donor that influence the regenerative potential of adipose tissue-derived stem cells].

Background: Regenerative therapies like cell-assisted lipotransfer or preclinical experimental studies use adipose tissue-derived stem cells (ASCs) as the main therapeutic agent. But there are also factors depending on the clinical donor that influence the cell yield and regenerative potential of human ASCs and stromal vascular fraction (SVF). Therefore, the aim of this review was to identify and evaluate these factors according to current literature.

[The COVID-19 Pandemia and its consequences for plastic surgery and hand surgery].

The first case of a SARS-Cov-2 virus infection was confirmed on January 27th in Munich. For both, plastic and hand surgeons it is crucial to act responsible, minimize the transmission of the virus and aid in reasonable and adequate allocation of resources for the treatment of affected patients during this pandemia. This article aims to provide an overview over the latest developments and insights that affect plastic and hand surgeons.

Tenogenic Contribution to Skeletal Muscle Regeneration: The Secretome of Scleraxis Overexpressing Mesenchymal Stem Cells Enhances Myogenic Differentiation In Vitro.

Integrity of the musculoskeletal system is essential for the transfer of muscular contraction force to the associated bones. Tendons and skeletal muscles intertwine, but on a cellular level, the myotendinous junctions (MTJs) display a sharp transition zone with a highly specific molecular adaption. The function of MTJs could go beyond a mere structural role and might include homeostasis of this musculoskeletal tissue compound, thus also being involved in skeletal muscle regeneration.

Differences in the Inflammatory Response of White Adipose Tissue and Adipose-Derived Stem Cells.

The application of liposuctioned white adipose tissue (L-WAT) and adipose-derived stem cells (ADSCs) as a novel immunomodulatory treatment option is the currently subject of various clinical trials. Because it is crucial to understand the underlying therapeutic mechanisms, the latest studies focused on the immunomodulatory functions of L-WAT or ADSCs. However, studies that examine the specific transcriptional adaptation of these treatment options to an extrinsic inflammatory stimulus in an unbiased manner are scarce.

One-Year Outcomes of Intraarticular Fat Transplantation for Thumb Carpometacarpal Joint Osteoarthritis: Case Review of 99 Joints.

Background: This study aims to present a new therapeutic option for the treatment of thumb carpometacarpal joint osteoarthritis. Knowing that autologous fat may be beneficial for osteoarthritis through antiinflammatory and chondroprotective effects, the authors transplanted autologous adipose fat into the thumb carpometacarpal joint with the objective of postponing definite resection arthroplasty surgery.

Methods: In this pilot study, the authors performed surgery on 99 joints.

Adipose-derived stem/progenitor cells from lipoaspirates: A comparison between the Lipivage200-5 liposuction system and the Body-Jet liposuction system.

Background: Adipose-derived stem/progenitor cells (ADSPCs) are under investigation in many clinical applications for their regenerative potential in a variety of autoimmune, degenerative, and inflammatory diseases. Adipose tissue, which is mainly harvested by manual liposuction, is the main source of these ADSPCs.

Objective: In the past years, a variety of different liposuction devices have been commercialized.

Evaluation of the presence and distribution of leptomeningeal inflammation in SIDS/SUDI cases and comparison with a hospital-based cohort.

Introduction: Prior research demonstrates that leptomeninges of infants and late-term fetuses derived from a non-traumatic, hospital-based cohort contain a surprisingly large number of inflammatory cells and stainable iron. These were present irrespective of the findings from the general autopsy, the neuropathologic examination, and the mode of delivery.

Materials And Methods: We applied a similar methodology to a sudden infant death syndrome/sudden unexpected death in infancy (SIDS/SUDI) cohort.

[Not Available].

This article describes the rare condition of scrotal lymphedema (elephantiasis) in a Caucasian man. To our knowledge, this is the most giant form of scrotal elephantiasis that was ever described in Germany. Aim of this case report is to present an appealing aesthetic possibility of surgical treatment and reconstruction of the genitals while preserving the testes.

Does Cigarette Smoking Harm Microsurgical Free Flap Reconstruction?

Background:  Free tissue transfers can successfully address a wide range of reconstructive requirements. While the negative influence of cigarette smoking is well documented, its effects in the setting of microsurgical free flap reconstruction remain debated. This study evaluates the impact of cigarette smoking on microsurgical reconstructions.

SCN1A variants associated with sudden infant death syndrome.

We identified SCN1A variants in 2 infants who died of sudden infant death syndrome (SIDS) with hippocampal abnormalities from an exome sequencing study of 10 cases of SIDS but no history of seizures. One harbored SCN1A G682V, and the other had 2 SCN1A variants in cis: L1296M and E1308D, a variant previously associated with epilepsy. Functional evaluation in a heterologous expression system demonstrated partial loss of function for both G682V and the compound variant L1296M/E1308D.