Somatic hypermutation defects in two adult hyper immunoglobulin M patients

Immunologic Research - Hyper immunoglobulin M (HIGM) syndrome is a rare disorder of the immune system with impaired antibody functions. The clinical picture of the patients varies according to the...     

A new cause of developmental and epileptic encephalopathy with continuous spike-and-wave during sleep: CDKL5 disorder

The CDKL5 disorder is characterized by early onset epilepsy, stereotypical hand movement, absent speech and severe hypotonia. Herein, we report epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS) in apatient with CDKL5 disorder. She admitted with complaints of frequently recurring generalized tonic and myoclonic seizures. The diagnoses were confirmed by de novo CDKL5 mutation, c.197_198delCT (p.L67QfsX23). Interictal EEG revealed generalized spike and slow-wave activity, occurring intermittently in wakefulness but present for at least 85% of non-REM sleep, consistent with the diagnosis of CSWS. To our knowledge, this is the first report of CSWS associated with CDKL5 disorder.     

The functional and structural changes in the basilar artery due to overpressure blast injury

Overpressure blast-wave induced brain injury (OBI) leads to progressive pathophysiologic changes resulting in a reduction in brain blood flow, blood brain barrier breakdown, edema, and cerebral ischemia. The aim of this study was to evaluate cerebral vascular function after single and repeated OBI. Male Sprague-Dawley rats were divided into three groups: Control (Naive), single OBI (30 psi peak pressure, 1 to 2 msec duration), and repeated (days 1, 4, and 7) OBI (r-OBI). Rats were killed 24 hours after injury and the basilar artery was isolated, cannulated, and pressurized (90 cm H₂O). Vascular responses to potassium chloride (KCl) (30 to 100 mmol/L), endothelin-1 (10⁻¹² to 10⁻⁷ mol/L), acetylcholine (ACh) (10⁻¹⁰ to 10⁻⁴ mol/L) and diethylamine-NONO-ate (DEA-NONO-ate) (10⁻¹⁰ to 10⁻⁴ mol/L) were evaluated. The OBI resulted in an increase in the contractile responses to endothelin and a decrease in the relaxant responses to ACh in both single and r-OBI groups. However, impaired DEA-NONO-ate-induced vasodilation and increased wall thickness to lumen ratio were observed only in the r-OBI group. The endothelin-1 type A (ET_A) receptor and endothelial nitric oxide synthase (eNOS) immunoreactivity were significantly enhanced by OBI. These findings indicate that both single and r-OBI impairs cerebral vascular endothelium-dependent dilation, potentially a consequence of endothelial dysfunction and/or vascular remodelling in basilar arteries after OBI.     

Acknowledging the use of human cadaveric tissues in research papers: Recommendations from anatomical journal editors

Research within the anatomical sciences often relies on human cadaveric tissues. Without the good will of these donors who allow us to use their bodies to push forward our anatomical knowledge, most human anatomical research would come to a standstill. However, many research papers omit an acknowledgement to the donor cadavers or, as no current standardized versions exist, use language that is extremely varied. To remedy this problem, 20 editors‐in‐chiefs from 17 anatomical journals joined together to put together official recommendations that can be used by authors when acknowledging the donor cadavers used in their studies. The goal of these recommendations is to standardize the writing approach by which donors are acknowledged in anatomical studies that use human cadaveric tissues. Such sections in anatomical papers will not only rightfully thank those who made the donation but might also encourage, motivate, and inspire future individuals to make such gifts for the betterment of the anatomical sciences and patient care.     

Reversible splenial lesion syndrome associated with SARS-CoV-2 infection in two children

BackgroundReversible splenial lesion syndrome (RESLES) is characterized by a temporary lesion in the splenium of the corpus callosum, emerging related to encephalitis, seizures, antiepileptic drug withdrawal, or metabolic disturbances. Among RESLES, mild encephalitis/encephalopathy with reversible splenial lesion (MERS) has been defined as a distinct clinicoradiologic syndrome associated with viral infections.Case presentationWe report two children with multisystem inflammatory syndrome-children related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) who developed RESLES during the disease course. Encephalopathy was the main central nervous system symptom. Both of the children showed a rapid recovery, and brain magnetic resonance imaging revealed complete resolution of the splenial lesion within 1 week.ConclusionThe complete resolution of the splenial lesion and rapid recovery from encephalopathy in RESLES associated with SARS CoV-2 were similar to observed in MERS.     

Trichosporon Asahii,Sepsis, and Secondary Hemophagocytic Lymphohistiocytosis in Children with Hematologic Malignancy

Trichosporon asahii (T. asahii) is an uncommon fungal pathogen rarely seen in patients with hematologic malignancies. Although appropriate therapy is started, infection with T. asahii usually leads to mortality. Here, we describe two patients developed severe T. asahii infection and secondary HLH. Despite rapid identification of T. asahii and negative blood cultures achieved by prompt initiation of treatment with voriconazole, fever and pancytopenia, persisted and both developed hepatosplenomegaly, and their clinical state worsened. Bone marrow aspiraton revealed hemophagocytosis. Elevated ferritin, triglyceride levels were seen. The first patient did not receive HLH directed therapy and died with multiple organ dysfunctions. Prompt diagnosis and treatment of secondary HLH led to rapid improvement in clinical and laboratory abnormalities in the second patient and kept her alive. We suggest that HLH may present as a secondary condition, accompanying a severe infection with T. asahii may, at least in part, contribute to high mortality rates in these cases.     

Congenital megalourethra presenting with large cystic mass in the inguinal area

Congenital megalourethra is a rare urogenital malformation characterized by severe dilatation and elongation of the penile urethra. It causes functional obstruction of the lower urinary system. Herein, we present a newborn with congenital megalourethra with single umbilical artery.     

Cytotoxic effects of four different endodontic materials in human periodontal ligament fibroblasts

The purpose of this study was to compare the cytotoxicity, induced apoptosis and/or necrosis, and apoptotic mechanisms in human periodontal ligament (PDL) fibroblasts treated with four different endodontic materials: White ProRoot mineral trioxide aggregate (MTA) (MTA/Dentsply; Tulsa Dental, Memphis, TN), Diaket (ESPE, Seefeld, Germany), Endion (VOCO, Cuxhaven, Germany), and CYMED 8410 (NANO, Kaohsiung, Taiwan). The effects of these four materials on the viability of PDL fibroblasts were determined by MTT (3-(4,5-dimethyl-thiazoyl)-2,5-diphenyl-SH-tetrazolium bromide) assay. Apoptotic pathways were evaluated via several mechanisms. Exposure to MTA for 24, 48, and 72 hours resulted in no significant differences in MTT reduction and viable cell number compared with controls. However, treatment of PDL fibroblasts with Diaket, Endion, and CYMED 8410 for 24, 48, and 72 hours resulted in cytotoxicity with MTT and a reduction of viable cell number with trypan blue dye exclusion test compared with controls (from p < 0.05 to p < 0.001). Annexin V-FITC/PI staining showed that Diaket, Endion, and CYMED 8410 induced higher percentages of apoptosis and/or necrosis than in controls (45.6%, 25.5%, and 6.3%, respectively). Results of cell-cycle analyses were concordant with annexin V-FITC/PI staining findings. These results suggest that MTA is a very biocompatible filling material. However, Diaket, Endion, and CYMED 8410 are toxic to PDL fibroblasts in vitro. The main form of cell death induced by these filling materials was determined to be apoptosis and/or necrosis.