Houghtonhenningsen4849

Spontaneous multiple arterial dissection (SMAD) is a rarely reported phenomenon and has been previously linked to connective tissue diseases and specifically the genetic mutations in SMAD3 and COL3A1. Herein we describe a case of SMAD with scattered thrombi in a COVID-19-positive patient with a history of unspecified mitochondrial myopathy. Vasculopathy involved the splenic artery, inferior mesenteric artery, internal mammary arteries, omental arteries, mesenteric arteries, and small renal arteries. Dissections were confirmed by histology in the splenic artery, inferior mesenteric artery, and bilateral renal medullary arteries. Genetic studies were done to rule out SMAD3 and COL3A1 mutations. Because the Smad3 protein has been previously implicated in COVID-19-associated tissue fibrosis, it may play a role in endothelial dysfunction as well.

Spontaneous multiple arterial dissection (SMAD) is a rarely reported phenomenon and has been previously linked to connective tissue diseases and specifically the genetic mutations in SMAD3 and COL3A1. Herein we describe a case of SMAD with scattered thrombi in a COVID-19-positive patient with a history of unspecified mitochondrial myopathy. Vasculopathy involved the splenic artery, inferior mesenteric artery, internal mammary arteries, omental arteries, mesenteric arteries, and small renal arteries. Dissections were confirmed by histology in the splenic artery, inferior mesenteric artery, and bilateral renal medullary arteries. Genetic studies were done to rule out SMAD3 and COL3A1 mutations. Because the Smad3 protein has been previously implicated in COVID-19-associated tissue fibrosis, it may play a role in endothelial dysfunction as well.

In Thailand, sexual activity involving those under the legal age of consent may be legally and medically problematic, even if it is consensual. Thus, differentiating anogenital injury characteristics that occur during consensual versus nonconsensual acts with adolescent female subjects could aid legal advocates and improve health care and social support for these patients. Our study included postmenarche female patients having acute anogenital injuries after consensual and nonconsensual penetration. We found that nonconsenting patients had more cases of anogenital injury than consenting (69.8% vs 55.5%), with at least 1 abrasion, contusion, laceration, labia major or minor injury, and external or internal site injury. Both consensual and nonconsensual cases had the same common sites for injury type, reflecting the same injury mechanism; prior sexual intercourse was a significant protective factor against some anogenital injury prevalence, types, and sites for both groups. Adolescents forced into nonconsensu abrasion, contusion, laceration, labia major or minor injury, and external or internal site injury. Both consensual and nonconsensual cases had the same common sites for injury type, reflecting the same injury mechanism; prior sexual intercourse was a significant protective factor against some anogenital injury prevalence, types, and sites for both groups. Adolescents forced into nonconsensual acts had more nonanogenital injuries. Looking at factors such as age, prior sexual activity history, and use of condom and/or contraceptive pills, it is very clear that early sexual education, particularly around consent, is critically needed in Thailand for the best interests of adolescents and children so that they and/or their guardians can access the health and legal resources required.

We present 2 cases of fatal inhalation of easily available highly volatile substances that occurred in a recreational context. Case 1 concerns an 18-year-old man who was found dead with a 25-L plastic bag pulled over his head and a whipped cream steel siphon connected to the bag. The deceased was known to previously have inhaled nitrous oxide. Autopsy results were unremarkable, toxicological analysis using static headspace gas chromatography coupled to mass spectrometry analysis proved the presence of nitrous oxide in lung tissue and blood. Asphyxiation was ascertained as the cause of death. Case 2 describes the death of a 54-year-old man found dead on his bed wearing a rubber gas mask. A bottle with ethyl chloride-containing cold spray was found beside him. Autopsy did not reveal relevant pathological findings; a subsequent toxicological analysis proved the presence of ethyl chloride. Respiratory arrest because of ethyl chloride inhalation was established as the cause of death. The 2 cases presented here dwearing a rubber gas mask. A bottle with ethyl chloride-containing cold spray was found beside him. Autopsy did not reveal relevant pathological findings; a subsequent toxicological analysis proved the presence of ethyl chloride. https://www.selleckchem.com/products/MK-2206.html Respiratory arrest because of ethyl chloride inhalation was established as the cause of death. The 2 cases presented here demonstrate the danger of easily available, volatile substances with a high potential for abuse. A careful investigation of the death scene, proper specimen collection during the autopsy, and extensive toxicological tests, including headspace gas chromatography coupled to mass spectrometry analysis, are necessary to prove inhalation of these substances.Two dimensional (2D) transition metal dichalcogenide (TMDC) materials, such as MoS2, WS2, MoSe2, and WSe2, have received extensive attention in the past decade due to their extraordinary electronic, optical and thermal properties. They evolve from indirect bandgap semiconductors to direct bandgap semiconductors while their layer number is reduced from few layers to a monolayer limit. Consequently, there is strong photoluminescence in a monolayer (1L) TMDC due to the large quantum yield. Moreover, such monolayer semiconductors have two other exciting properties large binding energy of excitons and valley polarization. These properties make them become ideal materials for various electronic, photonic and optoelectronic devices. However, their performance is limited by the relatively weak light-matter interactions due to their atomically thin form factor. Resonant nanophotonic structures provide a viable way to address this issue and enhance light-matter interactions in 2D TMDCs. Here, we provide an overview of iew the intriguing physical properties of different types of van der Waals heterostructures, and their applications in optoelectronic and photonic devices. Finally, we draw our opinion on potential opportunities and challenges in this rapidly developing field of research.

Recent guidelines have provided recommendations for the care of patients with chronic hypoparathyroidism. Very little is known about actual physicians' practices or their adherence to such guidelines.

To describe the physicians' practice patterns and their compliance with international guidelines.

The cohort studies included were Épi-Hypo (118 physicians and 107 patients, from September 2016 to December 2019) and ePatients (110 patients, November 2019).

Internet-based cohorts involving all settings at a nationwide level (France). Participants were (i) physicians treating patients with chronic hypoparathyroidism and patients with chronic hypoparathyroidism either participating in the (ii) Épi-Hypo study (Épi-Hypo 2019 patients), or (iii) Hypoparathyroidism France, the national representative association (ePatients).

The physicians' specialties were mainly endocrinology (61%), nephrology (28%), family medicine (2.5%), pediatrics (2.5%), rheumatology (2%), or miscellaneous (4%) and 45% were practicing ell as endocrinologists. Full adherence to the guidelines is low in France.

Screening studies have established genetic risk profiles for diseases such as multiple endocrine neoplasia type 1 (MEN1) and pheochromocytoma-paraganglioma (PPGL). Founder effects play an important role in the regional/national epidemiology of endocrine cancers, particularly PPGL. Founder effects in the Netherlands have been described for various diseases, some of which established themselves in South Africa due to Dutch emigration. The role of Dutch founder effects in South Africa has not been explored in PPGL.

We performed a single-center study in South Africa of the germline genetic causes of isolated/syndromic neuroendocrine tumors.

Next-generation panel, Sanger sequencing and multiplex ligand-dependent probe amplification for endocrine neoplasia risk genes.

From a group of 13 patients, we identified 6 with PPGL, 4 with sporadic or familial isolated pituitary adenomas, and 3 with clinical MEN1; genetic variants were identified in 9/13 cases. We identified the Dutch founder exon 3 deletion in SDHB in two apparently unrelated individuals with distinct ethnic backgrounds that had metastatic PPGL. Asymptomatic carriers with this Dutch founder SDHBexon 3 deletion were also identified. Other PPGL patients had variants in SDHB, and SDHD and three MEN1variants were identified among MEN1 and young-onset pituitary adenoma patients.

This is the first identification of a Dutch founder effect for PPGL in South Africa. Awareness of the presence of this exon 3 SDHB deletion could promote targeted screening at a local level. Insights into PPGL genetics in South Africa could be achieved by studying existing patient databases for Dutch founder mutations in SDHx genes.

This is the first identification of a Dutch founder effect for PPGL in South Africa. Awareness of the presence of this exon 3 SDHB deletion could promote targeted screening at a local level. Insights into PPGL genetics in South Africa could be achieved by studying existing patient databases for Dutch founder mutations in SDHx genes.

The study aims to assess the cardiovascular safety of growth hormone (GH) treatment in patients with Noonan syndrome (NS) in clinical practice.

The study design involves two observational, multicentre studies (NordiNet® IOS and the ANSWER Program) evaluating the long-term effectiveness and safety of GH in >38,000 paediatric patients, of which 421 had NS.

Serious adverse events, serious adverse reactions (SARs) and non-serious adverse reactions (NSARs) were reported by the treating physicians. Cardiovascular comorbidities at baseline and throughout the studies were also recorded.

The safety analysis set comprised 412 children with NS (29.1% females), with a mean (s.d.) baseline age of 9.29 (3.88) years, treated with an average GH dose of 0.047 (0.014) mg/kg/day during childhood. Cardiovascular comorbidities at baseline were reported in 48 (11.7%), most commonly pulmonary valve stenosis (PVS) and atrial septal defects. Overall, 22 (5.3%) patients experienced 34 safety events. The most common were the NSARs headache (eight events in seven patients) and arthralgia (five events in three patients). Two SARs occurred in one patient (brain neoplasm and metastases to spine). No cardiovascular safety events were recorded in patients with NS. Five cardiovascular comorbidities in five patients were reported after initiation of GH treatment three cases of unspecified cardiovascular disease, one ruptured abdominal aortic aneurysm and one PVS.

GH treatment had a favourable safety profile in patients with NS, including those with cardiovascular comorbidities. Prospective studies are warranted to systematically assess the safety of GH treatment in patients with NS and cardiovascular disease.

GH treatment had a favourable safety profile in patients with NS, including those with cardiovascular comorbidities. Prospective studies are warranted to systematically assess the safety of GH treatment in patients with NS and cardiovascular disease.