Combination Treatment with Cryolipolysis and Hyaluronic Acid Fillers for Jawline Enhancement.

Background: Facial contouring procedures are increasingly sought to address aesthetic concerns such as submental fat accumulation and lack of jawline definition. Cryolipolysis and hyaluronic acid (HA) injection have emerged as promising modalities for lower face contouring, targeting fat reduction and jawline enhancement, respectively.

Objective: This study aims to assess the efficacy and safety of a combined treatment approach involving cryolipolysis followed by HA injection for addressing lower face contour concerns.

Effect of salivary secretion with mouthguard use on seasonal allergic rhinitis symptom improvement.

Objectives: It was shown that mucosal immunity via salivary IgA may be related to the improvement of seasonal allergic rhinitis (SAR) symptoms, and improvement of SAR symptoms through saliva flow increase has been reported in patients using mouthguard (MG) in dental treatment. The purpose of this study was to analyze the effect of MG use on SAR symptom improvement and to clarify the role of saliva on SAR symptom development.

Methods: We recruited patients from the Kanagawa Dental University Hospital including 38 and 8 patients with SAR and non-SAR symptoms during two seasons from March 2017 to April 2018.

Characterization of Geometrical Changes of Spherical Advanced Pore Morphology (APM) Foam Elements during Compressive Deformation.

The mechanical properties of Advanced Pore Morphology (APM) foam elements depend strongly upon their internal porous and external structural geometry. This paper reports on a detailed investigation of external (e.g.

Infantile spasms related to a 5q31.2-q31.3 microdeletion including .

Recently, haploinsufficiency of has been identified as an essential cause of 5q31.3 microdeletion syndrome, which is characterized by severe psychomotor developmental delay, epilepsy, distinctive features, and delayed myelination. A new 5q31.

Somatic mosaic deletions involving SCN1A cause Dravet syndrome.

Somatic mosaicism in single nucleotide variants of SCN1A is known to occur in a subset of parents of children with Dravet syndrome (DS). Here, we report recurrent somatic mosaic microdeletions involving SCN1A in children diagnosed with DS. Through the evaluation of 237 affected individuals with DS who did not show SCN1A or PCHD19 mutations in prior sequencing analyzes, we identified two children with mosaic microdeletions covering the entire SCN1A region.

Mutations in and in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.

Mutations in nuclear receptor SET domain-containing protein 1 gene ( ) are related to Sotos syndrome, which is characterized by overgrowth, macrocephaly, distinctive features, and neurodevelopmental disabilities. On the other hand, mutations in the nuclear factor I/X gene ( ) can lead to Malan syndrome, also known as Sotos-like syndrome, or to the Marshall-Smith syndrome. In this study, using next generation sequencing (NGS), we identified de novo mutations in and in three patients with developmental disabilities associated with overgrowth or macrocephaly.

Consequences of Different Corticosteroids on Serum Potassium and Prostate-Specific Antigen in Patients Receiving Abiraterone for Castration-Resistant Prostate Cancer: A Retrospective Observational Study.

Background: Abiraterone acetate is an androgen synthesis inhibitor approved for the treatment of castration-resistant prostate cancer (CRPC). Although co-administration of either prednisone or prednisolone at 10 mg/d has been recommended to reduce the risk of abiraterone-induced hyperaldosteronism (notably hypokalemia) and to give adjunctive pain relief effects, whether these glucocorticoids can be substituted by dexamethasone remains unknown.

Methods: We performed a retrospective review of medical records of patients who were given abiraterone for the treatment of CRPC with either prednisolone (ABI/PSL) 10 mg/d or dexamethasone (ABI/DEX) 0.

A novel mutation identified in siblings exhibiting developmental disorders with/without microcephaly.

The calcium/calmodulin-dependent serine protein kinase gene () mutations are associated with various neurological disorders; a syndrome of intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH), FG syndrome, X-linked ID with/without nystagmus, epileptic encephalopathy, and autistic spectrum disorder (ASD). Next generation sequencing was performed to elucidate genetic causes in siblings exhibiting developmental disorders, and a novel mutation, c.1424G>T (p.

Characteristics of rare and private deletions identified in phenotypically normal individuals.

Genomic copy number variations (CNVs) identified through chromosomal microarray testing must be validated to confirm whether they are pathogenically and functionally relevant to their respective clinical features. Although larger deletions have a higher probability to be pathogenic, this is not always true. Phenotypically normal individuals showed five CNV deletions larger than 1.

Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.

Because several genes responsible for epileptic encephalopathy are located on the 9q33q34 region, patients with chromosomal deletions of this region often show intractable epilepsy and neurodevelopmental disability. Contrary to these findings, chromosomal duplications of this region have never been reported previously. We identified a first case of 9q33q34 microduplications in siblings associated with developmental disorders and macrocephaly.

A novel mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.

The tubulin beta-4A gene () is associated with two different clinical conditions, dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). We identified a novel mutation, c.286G>A (p.

A novel mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.

Phosphoglycerate kinase (PGK) deficiency affects three different organs: red blood cells (RBC), the central nervous system, and muscles. Next-generation sequencing identified a hemizygous mutation (p.V217I) in a 16-year-old Japanese male patient presenting with intellectual disability and episodes of muscle weakness of unknown etiology.

An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment.

The proteolipid protein 1 gene (PLP1) is located on chromosome Xq22.2 and is related to X-linked recessive leukoencephalopathy (Pelizaeus-Merzbacher disease: PMD). Compared to PLP1 duplications, which are a major contributor to PMD, chromosomal deletions in this region are rare and only a few PMD patients with small deletions have been reported, suggesting that large deletions of this region would cause embryonic lethality.

A novel mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities.

Osteogenesis imperfecta (OI) is a heterogeneous disorder that is characterized by bone fragility and systemic complications, and is mainly caused by gene mutations in or . A novel splicing mutation, c.750+2T>A, was identified in a Japanese OI family.

Neurological manifestations of 2q31 microdeletion syndrome.

Microdeletion of 2q31 involving the HOXD gene cluster is a rare syndrome. The deletion of the HOXD gene cluster is thought to result in skeletal anomalies in these patients. HOX genes encode highly conserved transcription factors that control cell fate and the regional identities along the primary body and limb axes.

Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.

Background: Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, aspartylglucosaminidase (AGA). This disorder is rare in the general population except in Finland. Since the most characteristic feature of this disorder is a progressive developmental regression, patients often show no specific symptoms in the initial stages, and thus early diagnosis is often challenging.