Was the Hydranencephaly Defense Valid for the Death of a Child?: A Case Report

Hydranencephaly is a central nervous system disorder at birth in which brain's cerebral hemispheres are absent and replaced by sacks filled with CSF. The prevalence of hydranencephaly is less than 1 in 10,000 births, with 0.2 percent of children autopsies showing the condition.

Pregnancy associated atypical hemolytic uremic syndrome triggered by massive uterine bleeding after outpatient dilatation and evacuation

Background: Atypical Hemolytic Uremic Syndrome (aHUS) is a renal threatening multi-system disorder with significant hematologic findings of microangiopathic hemolytic anemia (MAHA) and thrombocytopenia. Early recognition and institution of late complement inhibitors can interrupt a cycle of progressive hemolysis and renal injury. Methods: We present an informative case of aHUS triggered by pregnancy termination. Diagnostic, laboratory, and treatment measures are reviewed. Results: Clinical evidence demonstrates immediate improvement in hemolysis, platelet consumption, and acute kidney injury following initiation of eculizumab. Conclusion: Pregnancy is a recognized trigger of aHUS and its proper management requires early recognition and institution of late complement blockade. Genetic testing can be sent for genetic counseling purposes, but initiation of treatment should neither await these results nor be discontinued when high-risk polymorphisms are absent.

Migraine in children and adolescents: modern principles of diagnostics and treatment

Migraine is a nervous system disorder that affects 7.7% of children and can debut before the age of 3 years. As they get older, the incidence of migraine increases, and among adolescents, its prevalence reaches 15%. The disease can significantly reduce the child's daily activity, school performance. Migraine is the most common cause of headache in children and adolescents, but it is not always diagnosed; it is not uncommon for patients with migraine to be misdiagnosed and given ineffective treatment. An effective approach to the diagnosis of migraine in children is presented, diagnostic criteria for migraine according to the 3rd edition of International Classification of Headache Disorders are described. Special disorders in childhood are described – episodic syndromes in children associated with migraine. Migraine treatment in children includes four main approaches: 1) lifestyle recommendations; 2) migraine attack treatment; 3) nonpharmacological treatment; 4) migraine preventive pharmacotherapy. All of the listed approaches for the treatment of migraine in childhood are discussed in detail.

Sinonasal blue nevus: a case report and review

Blue nevus is a type of uncommon benign pigmented lesion in the skin or the mucosa of human body which is featured by pigmented dendritic melanocytes and spindled melanocytic cells. Sinonasal blue nevus is extremely rare. We reported a sinonasal blue nevus case with the background of pituitary adenoma, type 2 diabetes mellitus, and hypertension (including endoscopic and histological pictures). Further, the existing literature about blue nevus is reviewed. This paper puts a spotlight on the potential correlation between blue nevus with the endocrine system disorder and provides support for further experimental research.

Macrophage activation syndrome in MDA5 antibody-positive dermatomyositis and COVID-19 infection

Background Macrophage activation syndrome (MAS) is a rare multiorgan system disorder that may present as a fatal complication of underlying rheumatological disease, including dermatomyositis. Case presentation Here, we report the case of a 65-year-old Caucasian female with a history of psoriasis and a recent diagnosis of Coronavirus disease 2019 (COVID-19) who presented with progressive generalized weakness, joint pains, an erythematous rash, shortness of breath, and weight loss. She was ultimately diagnosed with biopsy-confirmed melanoma differentiation-associated protein 5 (MDA5)-positive dermatomyositis complicated by MAS, requiring intravenous immunoglobulin and high-dose methylprednisolone. Conclusions This report serves as a clinical reminder of the rare, yet clinically relevant association between MDA5-positive dermatomyositis and MAS, as well as highlights the potential contribution of other immune system activating diseases, such as COVID-19, associated with a cytokine storm and hyperinflammatory state.

Heritability and Genomic Architecture of Episodic Exercise-Induced Collapse in Border Collies

An episodic nervous system disorder triggered by strenuous exercise, termed border collie collapse (BCC), exists in border collies and related breeds. The genetic basis of BCC is unknown but is believed to be a complex genetic disorder. Our goal was to estimate the heritability (h2SNP) of BCC, define its underlying genetic architecture, and identify associated genomic loci using dense whole-genome single-nucleotide polymorphism (SNP) genotyping data. Genotype data were obtained for ~440,000 SNPs from 343 border collies (168 BCC cases and 175 controls). h2SNP was calculated to be 49–61% depending on the estimated BCC prevalence. A total of 2407 SNPs across the genome accounted for nearly all the h2SNP of BCC, with an estimated 2003 SNPs of small effect, 349 SNPs of moderate effect, and 56 SNPs of large effect. Genome-wide association analyses identified significantly associated loci on chromosomes 1, 6, 11, 20, and 28, which accounted for ~5% of the total BCC h2SNP. We conclude that BCC is a moderately- to highly- heritable complex polygenetic disease resulting from contributions from hundreds to thousands of genetic variants with variable effect sizes. Understanding how much the BCC phenotype is determined by genetics and whether major gene mutations are likely to exist inform veterinarians and working/stock dog communities of the true nature of this condition.

Entropy as Measure of Brain Networks’ Complexity in Eyes Open and Closed Conditions

Brain complexity can be revealed even through a comparison between two trivial conditions, such as eyes open and eyes closed (EO and EC respectively) during resting. Electroencephalogram (EEG) has been widely used to investigate brain networks, and several non-linear approaches have been applied to investigate EO and EC signals modulation, both symmetric and not. Entropy is one of the approaches used to evaluate the system disorder. This study explores the differences in the EO and EC awake brain dynamics by measuring entropy. In particular, an approximate entropy (ApEn) was measured, focusing on the specific cerebral areas (frontal, central, parietal, occipital, temporal) on EEG data of 37 adult healthy subjects while resting. Each participant was submitted to an EO and an EC resting EEG recording in two separate sessions. The results showed that in the EO condition the cerebral networks of the subjects are characterized by higher values of entropy than in the EC condition. All the cerebral regions are subjected to this chaotic behavior, symmetrically in both hemispheres, proving the complexity of networks dynamics dependence from the subject brain state. Remarkable dynamics regarding cerebral networks during simple resting and awake brain states are shown by entropy. The application of this parameter can be also extended to neurological conditions, to establish and monitor personalized rehabilitation treatments.

Configurational fingerprints of multicellular living systems

Cells cooperate as groups to achieve structure and function at the tissue level, during which specific material characteristics emerge. Analogous to phase transitions in classical physics, transformations in the material characteristics of multicellular assemblies are essential for a variety of vital processes including morphogenesis, wound healing, and cancer. In this work, we develop configurational fingerprints of particulate and multicellular assemblies and extract volumetric and shear order parameters based on this fingerprint to quantify the system disorder. Theoretically, these two parameters form a complete and unique pair of signatures for the structural disorder of a multicellular system. The evolution of these two order parameters offers a robust and experimentally accessible way to map the phase transitions in expanding cell monolayers and during embryogenesis and invasion of epithelial spheroids.

ICA treatment diabets induced bone loss via primary cilia/Gli2/Osteocalcin signaling pathway

Diabetes mellitus, as a metabolic system disorder disease, aggravates the disease burden of patients and affects the quality of human life. Diabetes-associatedbone complications lead to decreased bone mechanical strength and osteoporosis.Evidencesshow that chronic hyperglycemia and metabolic intermediates , such as inflammatory factor, reactive oxygen species(ROS) and advanced glycation end products(AGEs), are regarded as dominanthazardous factors of primary cilia/Gli2 signal disorders.Case studies have demonstrated abnormal bone metabolism in diabetics, however, how diabetes damages primarycilia/Gli2 signal is largely unknown. Therefore, we studied the effects of diabetes on femoral primary cilia by establishing aStreptozocin (STZ)-induced diabetic (SpragueDawley) SD rat model and diabetic bone loss cell modelin vitro. Our results confirmed that diabetes impaired femur primary cilia,osteoblast differentiation and mineralization by inhibiting primary cilia/Gli2signaling pathway, additionally,Icariin(ICA) treatment could rescue the impairment of osteoblast differentiation causedby high glucose mediumin vitro. ICA activated primary cilia/Gli2/osteocalcinsignaling pathway of osteoblasts by protecting primary cilia from glucotoxicityimposed by diabetes, intactprimary cilia couldbe as anchoring sites, in which Gli2 was processed and modified,and matured Gli2 entered the nucleus to initiate downstream osteocalcingene transcription.Additionally,ICA inhibited ROS production of mitochondria, thus balanced mitochondrial energy metabolism and oxidative phosphorylation.All results suggest that ICA can protect the primary cilia and mitochondria of osteoblastby reducingintracellular ROS, thereby recover primary cilia/Gli2signaling pathway to facilitateosteoblast differentiation and mineralization, suggesting that ICA has potential as a novel typeof drugtreatingbone loss induced bydiabetes.

The clinical practice guidelines for primary hyperparathyroidism, short version

Primary hyperparathyroidism (PHPT) is an endocrine disorder of parathyroid glands characterized by excessive secretion of parathyroid hormone (PTH) with an upper normal or elevated blood calcium level. Classical PHPT refers to a symptomatic, multi-system disorder, wich can lead to a significant decrease in the quality of life, disability of patients, and even an increased risk of premature death. Hypercalcemia and the catabolic effect of PTH on various cells are considered as the main pathogenetic mechanisms of the PHPT associated complications. In the last two decades, there has been an increase in the incidence of PHPT, mainly due to the mild forms of the disease, primarily due to the routine calcium screening in North America, Western Europe and, Asia. High prevalence of the disease, as well as the variety of clinical manifestations, cause the attention of different specialists - physicians, rheumatologists, urologists, nephrologists, cardiologists and other doctors. This review cover the main issues of Russian guidelines for the management of PHPT, approved in 2020, including laboratory and instrumental methods, differential diagnosis, surgical and conservative approach, short-term and long-term follow-up. This guidelines also include the recommendations for special groups of patients with hereditary forms of PHPT, parathyroid carcinoma, PHPT during pregnancy.