The role of electrocardiogram in sex verification in a young adult with primary amenorrhea: a case report

The use of electrocardiogram for sex verification in adults is an emerging concept in medicine. It is feasible through the utilization of Ogunlade Sex Determination Electrocardiographic Score. The aim of this ...

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The First Report of Multicentric Carpotarsal Osteolysis Syndrome Caused by MAFB Mutation in Asian

Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder characterized by aggressive osteolysis associated with progressive nephropathy. The early clinical presentation can mimic polyarticular juvenile idiopathic arthritis. Since 2012, MAFB mutations have been discovered in all MCTO patients. Therefore, the early diagnosis can be made based on genetic confirmation. We report the clinical manifestation of mineral bone disease and the molecular genetic study of a Thai female adolescent with MCTO. She presented with end-stage renal disease, bilateral wrist and ankle joint deformities, and subtle facial dysmorphic features. We identified a heterozygous missense MAFB mutation at nucleotide 197 from C to G (NM_005461.4; c.197C>G), predicting the change of amino acid at codon 66 from serine to cysteine (p.Ser66Cys), and the mutation was absent in the parents, indicating a de novo mutation. This report confirms the previous link between MAFB mutation and MCTO. Her unexplained hypercalcemia after a regular dose of calcium and active vitamin D supported an important role of MafB in the negative regulation of RANKL-mediated osteoclast differentiation. Therefore, we would encourage the physicians who take care of MCTO patients to closely monitor serum calcium level and perform a genetic study as a part of the management and investigation.

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When a Seemingly Harmless Prescription Turns into Toxicity

Valacyclovir neurotoxicity is commonly seen in the elderly and those with impaired renal function. Differential diagnosis can be challenging as a myriad of medical conditions, including herpes zoster virus associated encephalitis, may present in a similar fashion. We present a case of a 71-year-old male who presented with altered mental status in the setting of recent herpes zoster eruption. His condition was attributed to valacyclovir neurotoxicity, and initiation of appropriate supportive therapy was met with complete resolution of symptoms and normalization of cognitive function.

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Table of Contents

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Postoperative pain management for tracheoesophageal fistula repair using transverse, in-plane, ultrasound guided paravertebral technique in a 2 kg neonate

We read with interest the recent paper discussing an ultrasound guided oblique intercostal approach for paravertebral catheters placement in 2 neonates scheduled for tracheoesophageal fistula repair [1]. While we applaud the author's choice of using for paravertebral catheters (PVBCs) in such small neonates, we question the technique used; an ultrasound image was not presented, and the figure and block details do not seem to be in concordance with the approach used. The depth of paravertebral space with intercostal approach is only few millimiters, making this approach extremely challenging, with a high risk of pneumothorax and intrapleural catheter placement.

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Editorial Board w/barcode

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Chilaiditi syndrome – a rare case of pneumoperitoneum in the emergency department: a case report

Pneumoperitoneum poses an important diagnostic sign determining the urgency of management of patients in an emergency department. Chilaiditi sign is a rare radiologic finding of large intestines transposition ...

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