A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant.

BACKGROUND Familial hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disorder (OMIM# 602014) caused by mutations in the gene encoding transient receptor potential melastatin 6 (TRPM6)) on chromosome 9q22, a channel involved in epithelial magnesium resorption. While a plethora of studies have delineated various clinical manifestations pertinent to this mutation, the literature is devoid of connections between TRPM6 mutations and bleeding diathesis, or sudden infant death syndrome (SIDS). This report presents a case of familial HSH associated with the novel homozygous TRPM6 gene variant c.

Diagnosis of COVID-19 pneumonia despite missing detection of viral nucleic acid and initially inconspicuous radiologic findings.

The diagnosis of coronavirus disease 2019 (COVID-19) is mainly based on a positive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) polymerase chain reaction (PCR) result. PCR samples are obtained from upper or lower respiratory tract specimens. However, the sensitivity of PCR is known to have some limitations.

Frequency of hepatitis B surface antigen variants (HBsAg) in hepatitis B virus genotype B and C infected East- and Southeast Asian patients: Detection by the Elecsys HBsAg II assay.

Background: To avoid false negative results, hepatitis B surface antigen (HBsAg) assays need to detect samples with mutations in the immunodominant 'a' determinant region, which vary by ethnographic region.

Objective: We evaluated the prevalence and type of HBsAg mutations in a hepatitis B virus (HBV)-infected East- and Southeast Asian population, and the diagnostic performance of the Elecsys HBsAg II Qualitative assay.

Study Design: We analyzed 898 samples from patients with HBV infection from four sites (China [Beijing and Guangzhou], Korea and Vietnam).

Substantial variation in the hepatitis B surface antigen (HBsAg) in hepatitis B virus (HBV)-positive patients from South Africa: Reliable detection of HBV by the Elecsys HBsAg II assay.

Background: It is essential that hepatitis B surface antigen (HBsAg) diagnostic assays reliably detect genetic diversity in the major hydrophilic region (MHR) of HBsAg to avoid false-negative results. Mutations in this domain display marked ethno-geographic variation and may lead to failure to diagnose hepatitis B virus (HBV) infection.

Objectives: Evaluate diagnostic performance of the Elecsys HBsAg II Qualitative assay in a cohort of South African HBV-positive blood donors.

Ethanol-Gel Sclerotherapy of Venous Malformations: Effectiveness and Safety.

Objective: In the treatment of venous malformations, ethanol may be administered in a gelified form to increase local effects and reduce systemic ones. The purpose of this prospective study was to evaluate the efficacy and safety of a commercially available viscous ethanol gel in the treatment of venous malformations.

Subjects And Methods: Thirty-one patients (mean age, 23.

Value of different ultrasound elastography techniques in patients with venous malformations prior to and after sclerotherapy.

Aim: Comparison of different ultrasound elastography techniques for detection of changes after sclerotherapy within venous malformations.

Material And Methods: In patients with venous malformations sonography was executed at exactly the same position prior to and after ethanol-gel sclerotherapy. Both examinations included B-Mode, vascular sonography with Color-Coded Duplex Sonography, and additional sonography with different elastography techniques (strain, qualitative and quantitative Acoustic Radiation Force Impulse (ARFI) elastography) with a linear transducer (6-9 MHz).

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.

Hereditary defects of coenzyme Q10 biosynthesis cause steroid-resistant nephrotic syndrome (SRNS) as part of multiorgan involvement but may also contribute to isolated SRNS. Here, we report 26 patients from 12 families with recessive mutations in ADCK4. Mutation detection rate was 1.