Background The present study aims to identify the underlying genetic defects in a Chinese family with autosomal dominant congenital cataracts (ADCC).Methods Detailed family histories and clinical data were recorded. Targeted exome sequencing of 54 known cataract-associated genes combined with high-throughput next-generation sequencing was conducted followed by Sanger sequencing and bioinformatic analysis to identify the causative gene lesion for the family.Results A four-generation Chinese family with posterior pole type cataract were enrolled. Enrichment of targeted genes revealed a new heterozygous p.X176Y mutation in the stop codon of αB-crystallin (CRYAB) gene, which resulted in the loss of the stop codon and prolongation of the mutant protein by 19 amino acid residues (p.X176Yfs19*). Sanger sequencing showed complete co-segregation with the disease. The elongated mutant protein was predicted to be pathogenic by forming new α-helix and random-coil in the secondary structure as well as producing an extended strand in the tertiary structure, potentially leading to increased hydrophobicity and reduced protein stability.Conclusions Our report added a new mutation in the spectrum of congenital cataracts. The data suggested that X176 residue in the COOH-terminal is of crucial importance for the αB-crystallin protein function which was valuable for further study of the pathogenesis of congenital cataracts.AbbreviationsCRYAB αB-crystallin; DNA deoxyribonucleic acid; PCR polymerase chain reaction; TES targeted exome sequencing; ACD αB-crystallin domain.

Granulocytic sarcoma (GS), is also referred to as myeloid sarcoma. It is a solid mass formed by the primitive or immature myeloid cells extramedullary infiltration, which is commonly caused by acute myelogenous leukemia (AML) or chronic myelogenous leukemia (CML). It mainly involves bones, lymph nodes, skin and soft tissues of the head and neck. In general, the incidence is low and central nervous system (CNS) involvement is relatively rare. The clinical manifestations of the disease are varied and the treatment is intractable.

A 53-year-old male with intracranial granulocytic sarcoma who suffered a pressing pain on the left cheek. The patient had a hypophasis with left corneal reflex diminished. He had bilateral anisocoria, lower jaw and tongue tilted to the left upon opening the mouth and the left pharyngeal reflex was declined. The whole blood routine was normal except for eosinophils, head magnetic resonance imaging plain scan revealed a space-occupying lesion. Postoperative pathology suggested GS. Unfortunately, the disease progressed quickly and the patient died.

Isolated GS is often difficult to diagnose accurately. The patient’s medical history should be carefully reviewed, all relevant tests should be performed, and various differential diagnoses should be familiarized with to improve the accuracy of diagnosis. And on this basis, to develop a personalized treatment plan for different patients.

Isolated GS is often difficult to diagnose accurately. The patient’s medical history should be carefully reviewed, all relevant tests should be performed, and various differential diagnoses should be familiarized with to improve the accuracy of diagnosis. And on this basis, to develop a personalized treatment plan for different patients.Assessment of nanomaterial (NM) induced inflammatory responses has largely relied on rodent testing via measurement of leukocyte accumulation in target organs. Despite observations that NMs activate neutrophil driven inflammatory responses in vivo, a limited number of studies have investigated neutrophil responses to NMs in vitro. We compared responses between the human neutrophil-like HL-60 cell line and human primary neutrophils following exposure to silver (Ag), zinc oxide (ZnO), copper oxide (CuO) and titanium dioxide (TiO2) NMs. NM cytotoxicity and neutrophil activation were assessed by measuring cellular metabolic activity, cytokine production, respiratory burst, and release of neutrophil extracellular traps. We observed a similar pattern of response between HL-60 cells and primary neutrophils, however we report that some neutrophil functions are compromised in the cell line. Ag NMs were consistently observed to stimulate neutrophil activation, with CuO NMs inducing similar though weaker responses. TiO2 NMs did not induce a neutrophil response in either cell type. Interestingly, ZnO NMs readily induced activation of HL-60 cells but did not appear to activate primary cells. Our findings are relevant to the development of a tiered testing strategy for NM hazard assessment which promotes the use of non-rodent models. Whilst we acknowledge that HL-60 cells may not be a perfect substitute for primary cells and require further investigation regarding their ability to predict neutrophil activation, we recommend their use for initial screening of NM-induced inflammation. Primary human neutrophils can then be used for more focused assessments of neutrophil activation before progressing to in vivo models where necessary.

Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue disease. Epilepsy is not a common neurological finding in EDS. Here we report a pediatric patient with EDS comorbid with

related epileptic encephalopathy as 'electrical status epilepticus during slow-wave sleep (ESES)’ and whose refractory epileptic seizures were controlled with ketogenic diet.

A 6-year-old girl who had EDS presented with refractory seizures and worsening cognitive functions. Her sleep electroencephalography (EEG) revealed electrical status epilepticus during slow-wave sleep (ESES). The epileptic encephalopathy panel revealed a de novo c.560C > T (p.pro187Leu) heterozygous mutation in the

gene. Ketogenic diet treatment was started for her refractory seizures and seizures stopped in the third month of the 31 classical ketogenic diet.

Our case is remarkable due to the coexistence of EDS and epileptic encephalopathy as well as ESES findings in STXBP1-associated epileptic encephalopathy and is therefore presented. Ketogenic diet would be beneficial on the management of refractory seizures in

related epileptic encephalopathy and ESES.

Our case is remarkable due to the coexistence of EDS and epileptic encephalopathy as well as ESES findings in STXBP1-associated epileptic encephalopathy and is therefore presented. Ketogenic diet would be beneficial on the management of refractory seizures in STXBP1-related epileptic encephalopathy and ESES.

Migraine is often associated with psychiatric and emotional co-morbidities. Several studies have shown association of sleep problems and/or emotional co-morbidities among migraineurs. However, less is known about the association of migraine disability with sleep and emotional co-morbidities.

To explore the association of emotional co-morbidities and sleep quality with migraine disability among migraineurs in the central part of India.

A cross-sectional study enrolling 132 patients of migraine was conducted at a tertiary care centre. They were evaluated for migraine disability by Migraine Disability Assessment Test (MIDAS), emotional co-morbidities by depression, anxiety, stress scale (DASS-21) and sleep quality by Pittsburgh Sleep Quality Index (PSQI).

Mean age of participants was 32.9 ± 9.8 and 83.3% (

 = 110) were females. Fourty seven percentage(

 = 62) patients reported moderate to severe disability on MIDAS. Anxiety was most frequent (

 = 87; 65.9%) emotional co-morbidity followed by depressioigraine disability prompts possible role of stress management to break the complex relationship between stress and migraine.Purpose To compare fetuses and children with confirmed tethered cord syndrome to age-matched controls to provide a reference for prenatally identifying tethered spinal cord and to identify salient points on MRI for diagnosis. Materials and Methods This retrospective study enrolled 13 fetuses and 20 children with tethered cord syndrome, and age-matched counterparts were included as controls. The MRI features including concomitant malformations, position of the conus medullaris, and thickened filum terminale of the two patient groups were evaluated and compared. Levels of the conus medullaris were discriminated between patients and an equivalent number of controls. Results Various concomitant malformations manifested on the MRI of all patients, and there were differences between the two patient groups. Significant differences of the level of the conus medullaris were found between the fetal and child patients (U, 26.50; Z, -3.87; p  less then  0.001) and between the normal fetus and child controls (U, 23.50; Z, -4.13; p  less then  0.001). The position of the conus medullaris was visibly lower in the patient groups than in the control groups. No significant difference in the diameters of the filum terminale was found between the fetal and child patients (p = 0.67). Conclusions The current study’s results indicate that tethered spinal cord syndrome can be diagnosed in utero with MRI combined with several characteristics, particularly the position of the conus medullaris. Special attention should be paid to the gestational age of the fetus because normal changes in spinal cord position occur with gestational development.Background An ENDO-European Reference Network (ERN) initiative was launched that was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies. The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis, and management of primary and central CH. The evidence-based guidelines were graded with the Grading of Recommendations, Assessment, Development and Evaluation system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. Summary The recommendations include the various neonatal screening approaches for CH as well as the etiology (also genetics), diagnostics, treatment, and prognosis of both primary and central CH. When CH is diagnosed, the expert on.

Constitutional varus in the coronal plane is formed based on the Hueter-Volkmann’s law. The varus deformity occurs at the proximal metaphysis of the tibia and the tibial condyle rotates medially. In the sagittal plane, we hypothesized that the posterior slope angle of the tibial articular surface may also occur at the proximal metaphysis and the tibial condyle rotates posteriorly. The purpose of this study was to verify the hypothesis.

A total of 208 patients who underwent TKA had lateral view proximal tibia digital radiograph on which seven parameters were analyzed. The posterior slope angle of the tibial articular surface relative to the anterior wall of the tibial condyle and that relative to the anterior cortex of the tibial shaft were assessed. Correlation between the position of the tibial condyle and the posterior slope angle of the articular surface were assessed.

The proximal tibial condyle itself did not have a posterior slope in the 86.5% of the participants. Posterior rotation of the tibial condyle created posterior slope of the tibial articular surface relative to the anterior cortex of the tibial shaft.