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Editorial for the Special Issue Cutaneous Biology, Molecular Dermatology and Dermatopathology
No full textInterest in molecular technology continues to grow at a notable rate, particularly within the realm of health sciences [...]
Novel Endothelial-Specific Adhesion Molecule Deficiency Influences on Pulmonary Vascular Function Potentially Contributing to Cardiovascular Disease Progression
No full textAntiphospholipid Syndrome Thrombotic and Vascular Complications
No full textAntiphospholipid syndrome is a rare, autoimmune thrombophilia defined by vascular thrombosis and pregnancy morbidity, in the setting of documented persistent antiphospholipid antibodies including the lupus anticoagulant, anticardiolipin antibodies, or anti-β2 glycoprotein I antibodies. The presence of antiphospholipid antibodies can be completely asymptomatic, or they can lead to clinical manifestations as severe as catastrophic antiphospholipid syndrome, which involves widespread coagulopathy over a very short period of time. The degree of risk associated with antiphospholipid syndrome depends on the characteristics of the antiphospholipid antibody profile and on the presence of additional thrombotic risk factors. The current standard treatment for unprovoked thrombosis is long-term warfarin. Treatment to prevent recurrent obstetric complications is low-dose aspirin and prophylactic heparin in pregnant patients. The use of direct oral anticoagulants in patients with antiphospholipid syndrome is still being debated. Their use is generally contraindicated, especially in high-risk patients, such as those with all 3 antiphospholipid antibodies present, but they may potentially be of some use in some low-risk patients
Risk Factors and Outcomes of Cardiac Arrest in Pediatric Traumatic Brain Injury Patients
No full textBackground: Cardiac arrest (CA) in pediatric traumatic brain injury (pTBI) is associated with morbidity. Our objective is to investigate the incidence, risk factors, and outcomes for CA following pTBI. Methods: The Kid Inpatient Database (KID) was queried for patients with pTBI. Patients who experienced CA were identified. Demographics, comorbidities, hospital course, and complications were compared between patients who developed CA and who did not. Risk factors for CA were explored using multivariate analysis. Results: CA patients were more likely to have hypertension, hypertrophic cardiomyopathy, and heart defects (p \u3c 0.01). CA was more likely in patients with subdural bleeding, cerebral edema, herniation, coma, or mechanical ventilation (p \u3c 0.001). CA patients had higher odds of vasopressor and transfusions, tracheostomy, percutaneous endoscopic gastrotomy (p \u3c 0.001), and mortality (p \u3c 0.01). Mechanical ventilation, cerebral edema, heart, vasopressor use, and transfusions were associated with CA on multivariate analysis. Conclusion: Risk factors for CA in pTBI patients include severity of injury and underlying cardiovascular abnormalities. CA was associated with morbidity and resource utilization in pTBI patients
Characterization of 223 Infants With CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID) Identified During the First Three Years of Newborn Screening via IRT-DNA-SEQ in New York State
No full textBackground: New York State implemented CFTR gene sequencing into the Cystic Fibrosis newborn screening (CF NBS) algorithm on 12/1/2017 to reduce false positive screens. With addition of sequencing, infants with 2 CFTR variants but low or intermediate sweat chloride levels classified as CFTR-related metabolic syndrome/CF screen-positive, inconclusive diagnosis (CRMS/CFSPID) are identified at a higher frequency, posing challenges to clinicians and families. Methods: Data from 375 screen-positive newborns between 12/1/2017 and 11/30/2020 were analyzed. We summarized 1–3 years of clinical follow-up for babies with CRMS/CFSPID following implementation of the IRT-DNA-SEQ algorithm. Results: Among 375 newborns referred, 223 (59.5 %) were classified as CRMS/CFSPID. Overall, 195/223 (87.4 %) had a CF-causing/pathogenic/likely pathogenic CFTR variant and a variant of varying clinical consequence (VCC) or uncertain significance (VUS). The most common VCC or VUS was 5T-12TG [n = 90/223 (40 %)]. All initial and repeat sweat chloride test (SCT) values for this cohort were \u3c60 mmol/L after 1–3 years follow-up. Ninety-nine infants had ≥1 repeat SCT. Forty-two (18.8 %) had ≥1 SCT in the intermediate range (30–59 mmol/L) and 181 (81.2 %) were \u3c30 mmol/L. Twenty-nine infants had sweat chloride increasing ≥5 mmol/L per year (29.3 % of infants with repeat testing). Fecal elastase was reported for 114/223 infants; none were abnormal. There were no conversions to CF during the 3-year follow-up period, however 2 infants have subsequently converted with diagnostic SCTs. Conclusions: The New York experience may help inform updates to clinical guidelines, which are needed to optimize care, management, counseling, and long-term follow-up of infants and children with CRMS/CFSPID
Mucosal Angioleiomyoma: Mucoscopic Findings Adding Value to Diagnosis
No full textThis article presents a female patient in her 40s who presented with a tender violaceous bump on her upper right lip. Our primary differential diagnosis was an arteriovenous malformation. Punch biopsy revealed the lesion to be an angioleiomyoma (ALM). The punch biopsy was sufficient for the complete removal of the lesion, and the lesion did not recur to date. There were no complications. We discuss the dermatoscopic description of an ALM and its clinical picture
Fetuin-B and Oxidative Stress Disrupt Placental Trophoblasts During Maternal Undernourishment
No full textBackground: Insufficient nutrition during pregnancy can lead to negative health outcomes for both mother and foetus. Maternal undernourishment (MUN) can be due to many factors like hyperemesis gravidarum or poor access to nutrition. Just as MUN can affect the mother and foetus, it can adversely affect the vital placental interface between the two. We suspect an observed increase in fetuin-B and oxidative stress in MUN placentas could be major players responsible for the placental insufficiency often seen with MUN. Methods: To establish a model of MUN during pregnancy, a reduced protein chow was fed to pregnant dams at a caloric deficit. We examined the MUN placentas and the downstream effects of fetuin-B and oxidative stress at the whole organ and trophoblast levels. We examined fetuin-B’s role in trophoblast pathology by measuring apoptosis, proliferation, TLR4 activation, expression of NF-ΚB p65, oxidative stress, and mitochondrial superoxide production. The effects of MUN and fetuin-B on mitochondrial superoxide production, antioxidant levels, metabolism, and electron transport chain complex activity were compared directly. Pharmaceutical interventions were utilised to narrow down specific pathways involved. Results: Studies indicated that MUN and oxidative stress upregulated fetuin-B in the placenta. This relationship displayed a positive feedback loop as fetuin-B, in turn, promoted oxidative stress through activation of TLR4. Consequently, MUN, fetuin-B, and oxidative stress promoted apoptosis and reduced proliferative expansion of trophoblast, thereby reducing their quantity. MUN and fetuin-B reduced mitochondrial metabolism and function, promoting mitochondrial dysregulation and superoxide generation in MUN trophoblasts. Conclusions: Our study sheds light on the mechanisms responsible for MUN-induced placental insufficiency while identifying therapeutic agents as possible add-on interventions
Complementary Therapies: Tai Chi in the Prevention and Management of Cardiovascular Disease
No full textCardiovascular disease has remained the top contributor to global mortality for decades, necessitating research into the most effective methods of its prevention and treatment. Simultaneous with an immense amount of discovery and innovation in the field of cardiology, certain therapies with traditional Chinese origins have become progressively more popular in the West in recent decades. Specifically, ancient meditative mind-body practices such as Qigong and Tai Chi may lower cardiovascular disease risk and severity through a focus on movement and meditation. Such practices are generally low-cost and modifiable, with few adverse effects. Studies have shown higher quality of life in patients with coronary artery disease and heart failure after participation in Tai Chi, as well as a positive impact on cardiovascular risk factors such as hypertension and waist circumference. Most studies in the field have various limitations, such as small sample size, lack of randomization, and inadequate control; however, these practices show potential as an adjunct in the prevention and treatment of cardiovascular disease. Patients unable or unwilling to partake in traditionally aerobic activities may benefit greatly from such mind-body therapies. Nonetheless, more studies are warranted for more definitive answers to the question of Tai Chi and Qigong\u27s effectiveness. In this narrative review, we discuss the current evidence surrounding the effects of Qigong and Tai Chi on cardiovascular disease, in addition to the limitations and difficulties in conducting such studies
Back up at the Pump? I Have a Gut Feeling About This: A Review of the Gastrointestinal Manifestations From Congestive Heart Failure
No full textHeart failure, which is a clinical syndrome characterized by the heart\u27s inability to maintain adequate cardiac output, is known to affect various organ systems in the body due to its ischemic nature and activation of the systemic immune response, but the resultant complications specifically on the gastrointestinal tract and the liver are not well discussed and poorly understood. Gastrointestinal-related phenomena are common symptoms experienced in patients with heart failure and frequently found to increase morbidity and mortality in these populations. The relationship between the gastrointestinal tract and heart failure are strongly linked and influence each other much so that the bidirectional association of the two is oftentimes referred to as cardiointestinal syndrome. Manifestations include gastrointestinal prodrome, bacterial translocation and protein-losing gastroenteropathy by gut wall edema, cardiac cachexia, hepatic insult and injury, and ischemic colitis. More attention is needed from a cardiology perspective to recognize these common presenting gastrointestinal phenomena that affect much of our patient population with heart failure. In this overview, we describe the association between heart failure and the gastrointestinal tract, the pathophysiology, lab findings, clinical manifestations and complications, and the management involved