Varicella zoster infection-associated progressive encephalomyelitis with rigidity and myoclonus in a 6-month follow-up.

A patient with reactivated varicella zoster virus (VZV) manifesting in the left-sided dermatome L3 and S2-S4 developed tonic spasms which morphed into myoclonic jerks, paresis, rigidity and hypoesthesia of the left leg. Later, stimuli-sensitive myoclonus progressed to affect the upper body and was accompanied by fever surges with high-frequency myoclonus, hypertensive derailment, dysphagia and other features of the brainstem with autonomic dysfunction. Cerebrospinal fluid tested positive for VZV, MRI showed no signs of myelitis and EEG was negative for epilepsy.

Virus Diversity, Abundance, and Evolution in Three Different Bat Colonies in Switzerland.

Bats are increasingly recognized as reservoirs for many different viruses that threaten public health, such as Hendravirus, Ebolavirus, Nipahvirus, and SARS- and MERS-coronavirus. To assess spillover risk, viromes of bats from different parts of the world have been investigated in the past. As opposed to most of these prior studies, which determined the bat virome at a single time point, the current work was performed to monitor changes over time.

Association of the COVID-19 pandemic with increased adherence among prevalent hemodialysis patients.

Background: During the COVID-19 pandemic, there has been a reduction in emergency department visits and hospital admissions. We hypothesized that hemodialysis patients were decreasing their hospital visits and increasing their dialysis adherence during the COVID-19 pandemic.

Material And Methods: This is a retrospective analysis of hemodialysis patients treated in the seven American Renal Associates (ARA) dialysis centers in the Dallas-Fort Worth metropolitan area.

Pseudohyperchloremia and Negative Anion Gap - Think Salicylate!

Background: Pseudohyperchloremia results in a very low or negative anion gap. Historically, the most common cause of this artifact was bromide poisoning. Bromide salts have been removed from most medications and bromism has become very uncommon.

Situation of India in the COVID-19 Pandemic: India's Initial Pandemic Experience.

In this article, we investigate the impact of COVID-19 through screening and surveillance methods adopted in India, as well as the potential health system, social, political, and economic consequences. The research was done in a chronological manner, and data was collected between 30 January 2020 till 12 June 2020. Initial containment measures, including point of entry screenings and testing protocols, appeared insufficient.

A young man with recurrent kidney stones and renal failure.

Dent disease is an inherited proximal renal tubulopathy leading to low molecular weight proteinuria, hypercalciuria with nephrocalcinosis and nephrolithiasis, and progressive renal failure. Two genetic mutations have been identified. The disease usually presents in childhood or early adult life and may be associated with other proximal tubular defects, which can lead to significant morbidity, especially in children.

Brown tumor complicating end-stage kidney disease.

Longstanding, severe hyperparathyroidism (HPT) can lead to the formation of "brown tumors". A brown tumor is a radiolucent bone lesion that is locally destructive; it is not a neoplasm, but rather a stromal mass consisting of fibrous tissue, poorly mineralized woven bone, and supporting vasculature. These tumors are a rare complication of advanced primary or secondary HPT.

Case report: Patiromer-induced hypercalcemia.

Patiromer is a novel potassium-binding compound which has recently received FDA approval. This ion exchange resin releases calcium when it binds potassium. We describe the development of hypercalcemia after initiation of patiromer.

Chromatin three-dimensional interactions mediate genetic effects on gene expression.

Studying the genetic basis of gene expression and chromatin organization is key to characterizing the effect of genetic variability on the function and structure of the human genome. Here we unravel how genetic variation perturbs gene regulation using a dataset combining activity of regulatory elements, gene expression, and genetic variants across 317 individuals and two cell types. We show that variability in regulatory activity is structured at the intra- and interchromosomal levels within 12,583 cis-regulatory domains and 30 trans-regulatory hubs that highly reflect the local (that is, topologically associating domains) and global (that is, open and closed chromatin compartments) nuclear chromatin organization.

Acute neurological syndrome complicating secondary hyperparathyroidism.

Longstanding severe hyperparathyroidism can lead to the formation of "brown tumors," benign but locally aggressive neoplasms. We present the case of a young woman with end-stage renal disease on hemodialysis with uncontrolled secondary hyperparathyroidism. The patient presented with progressive lower extremity weakness and back pain.

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics of this syndrome combine brain atrophy with clubfoot and arthrogryposis. Affected individuals present with cerebral parenchymal underdevelopment, ranging from major cerebral parenchymal thinning with lissencephalic aspect to moderate parenchymal rarefaction, severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and ophthalmologic anomalies, such as microphthalmia and cataract.

Population Variation and Genetic Control of Modular Chromatin Architecture in Humans.

Chromatin state variation at gene regulatory elements is abundant across individuals, yet we understand little about the genetic basis of this variability. Here, we profiled several histone modifications, the transcription factor (TF) PU.1, RNA polymerase II, and gene expression in lymphoblastoid cell lines from 47 whole-genome sequenced individuals.

Coordinated effects of sequence variation on DNA binding, chromatin structure, and transcription.

DNA sequence variation has been associated with quantitative changes in molecular phenotypes such as gene expression, but its impact on chromatin states is poorly characterized. To understand the interplay between chromatin and genetic control of gene regulation, we quantified allelic variability in transcription factor binding, histone modifications, and gene expression within humans. We found abundant allelic specificity in chromatin and extensive local, short-range, and long-range allelic coordination among the studied molecular phenotypes.

Cellular delivery of pyrenyl-arene ruthenium complexes by a water-soluble arene ruthenium metalla-cage.

Three pyrenyl-arene ruthenium complexes (M(1)-M(3)) of the general formula [Ru(η(6)-arene-pyrenyl)Cl(2)(pta)] (pta = 1,3,5-triaza-7-phosphaadamantane) have been synthesised and characterised. Prior to the coordination to ruthenium, pyrene was connected to the arene ligand via an alkane chain containing different functional groups: ester (L(1)), ether (L(2)) and amide (L(3)), respectively. Furthermore, the pyrenyl moieties of the M(n) complexes were encapsulated within the hydrophobic cavity of the water soluble metalla-cage, [Ru(6)(η(6)-p-cymene)(6)(tpt)(2)(donq)(3)](6+) (tpt = 2,4,6-tri-(pyridin-4-yl)-1,3,5-triazine; donq = 5,8-dioxydo-1,4-naphthoquinonato), while the arene ruthenium end was pointing out of the cage, thus giving rise to the corresponding host-guest systems [M(n)⊂Ru(6)(η(6)-p-cymene)(6)(tpt)(2)(donq)(3)](6+) ([M(n)⊂cage](6+)).

Uric Acid Nephrolithiasis: A Systemic Metabolic Disorder.

Uric acid nephrolithiasis is characteristically a manifestation of a systemic metabolic disorder. It has a prevalence of about 10% among all stone formers, the third most common type of kidney stone in the industrialized world. Uric acid stones form primarily due to an unduly acid urine; less deciding factors are hyperuricosuria and a low urine volume.

[Mononeuritis multiplex under the TNF-alpha inhibitor infliximab].

A 21-year-old patient with ankylosing spondylitis under treatment with the TNF-alpha inhibitor infliximab developed a multifocal, demyelinating axonal neuropathy affecting several peripheral nerves simultaneously (mononeuritis multiplex). This represents an additional rare peripheral nervous system side effect of infliximab therapy. The underlying cause is unknown.

Focal neuromyotonia: do I love you?

We present a rare case of focal neuromyotonia in a 73-year-old woman with a follow up of 5 years. The clinical picture showed a fixed contraction of the 3rd and 4th finger of the left hand. Similar to other published cases, our patient suffered from COPD and was treated with beta-2-sympathomimetics.

Tinea cruris in children.

Tinea cruris is an intensely pruritic fungal infection of the groin and adjacent skin. Also known as crotch rot and jock itch, it can be a troubling important entity that at times is a clinical, diagnostic, and therapeutic challenge. Predisposing factors include heat, humidity, and hyperhidrosis, common accompaniments of high school-aged athletes.

Hypertension and the kidney.

Hypertension is an important and widely prevalent risk factor for the development of chronic kidney disease (CKD), which unfortunately may progress to end-stage renal disease. CKD is a progressive condition that causes significant morbidity and mortality. Diabetes is the leading cause of end-stage renal disease in the Western world.

Central hypogonadism: distinguishing idiopathic low testosterone from pituitary tumors.

Objective: To attempt to determine clinical or hormonal characteristics that could help distinguish benign idiopathic low testosterone (ILT) from pituitary tumor.

Methods: On retrospective review of medical records of patients encountered by Johns Hopkins endocrine staff between 1985 and July 1995, 64 patients who fulfilled our enrollment criteria--27 men with ILT and 37 patients with imaging-proven pituitary tumor--were identified. Men 21 years of age or older needed to have had serum testosterone, luteinizing hormone (LH), follicle-stimulating hormone (FSH), and prolactin levels measured before hormonal replacement therapy or pituitary tumor extirpation (or both) and a high-quality imaging scan (computed tomography or magnetic resonance imaging) done and interpreted by the Johns Hopkins radiology staff.

Correction of metabolic acidosis improves thyroid and growth hormone axes in haemodialysis patients.

Background: Chronic metabolic acidosis (CMA) in normal adults results in complex endocrine and metabolic alterations including growth hormone (GH) insensitivity, hypothyroidism, hyperglucocorticoidism, hypoalbuminaemia and loss of protein stores. Similar alterations occur in chronic renal failure, a prototypical state of CMA. We evaluated whether metabolic acidosis contributes to the endocrine and metabolic alterations characteristic of end-stage renal disease.