Assessing the diagnostic and therapeutic value of submandibular gland elastography in patients with immunoglobulin G4-related sialadenitis.

Objectives: : To investigate the utility of shear wave elastography values (SWE) in differentiating IgG4-related submandibular sialadenitis (IgG4-RSS) from healthy individuals and in monitoring the response to glucocorticoid treatment.

Methods: : Patients with IgG4-RSS who underwent ultrasound between 2017 and 2023 were included. Gland size, border, internal echo pattern, vascularity, and SWE were measured.

Survey of Dietary Habits and Physical Activity in Japanese Patients with Non-Obese Non-Alcoholic Fatty Liver Disease.

The incidence of non-obese non-alcoholic fatty liver disease (NAFLD), characterized by the presence of a fatty liver in individuals with a normal body mass index, is on the rise globally. Effective management strategies, including lifestyle interventions such as diet and exercise therapy, are urgently needed to address this growing public health concern. The aim of this study was to investigate the association between non-obese NAFLD, dietary habits, and physical activity levels.

A case of renal involvement in juvenile xanthogranulomatosis.

Juvenile xanthogranuloma (JXG) is a type of non-Langerhans cell histiocytosis that rarely involves other than the skin. Here, we present detailed ultrasound (US) findings, including a contrast study, of a rare JXD renal lesion. A 42-year-old woman with JXG had chronic kidney disease.

Fibrolipomatous hamartoma with macrodactyly and carpal tunnel syndrome.

A 26-year-old man presented with congenital left thumb macrodactyly. MRI showed diffuse enlargement of the left median nerve from the wrist to the digits, with particularly severe swelling of the thumb; US revealed the median nerve swelling comprised enlarged hypoechoic nerve bundles and increased hyperechoic areas around the nerve bundles. These typical cable-like and spaghetti-like appearances led to the diagnosis of fibrolipomatous hamartoma (FLH).

Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature.

Objectives Imprinted genes have important roles for normal growth and development. Imprinting disorders (IDs) such as Silver-Russell syndrome and Temple syndrome are rare diseases that typically cause short children born small for gestational age (SGA). However, some patients with short stature (SS) caused by IDs were born non-SGA.

Pubertal Development and Pregnancy Outcomes in 46,XX Patients With Nonclassic Lipoid Congenital Adrenal Hyperplasia.

Context: Lipoid congenital adrenal hyperplasia (LCAH) is characterized by a disorder of steroidogenesis in both adrenal glands and gonads. 46,XX patients with classic LCAH usually have thelarche and menarche but show anovulatory menstruations and subsequent premature menopause. Only three patients with classic LCAH have been reported to successfully achieve delivery with the aid of assisted reproductive therapies for conception and progesterone replacement therapy during early pregnancy.

Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.

Although mutations in ACAN, FGFR3, NPR2, and SHOX typically lead to skeletal dysplasia, and mutations in GHRHR, GH1, GHR, STAT5B, IGF1, IGFALS, and IGF1R usually underlie hormonal defects of the growth hormone (GH)-insulin-like growth factor 1 (IGF1) axis, such mutations have also been identified in patients with idiopathic short stature (ISS). Of these, SHOX abnormalities are known to account for a certain percentage of ISS cases, whereas the frequency of mutations in the other 10 genes in ISS cohorts remains unknown. Here, we performed next-generation sequencing-based mutation screening of the 10 genes in 86 unrelated Japanese ISS patients without SHOX abnormalities.

Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations.

Our current understanding of the phenotypic consequences and the molecular basis of germline complex chromosomal rearrangements remains fragmentary. Here, we report the clinical and molecular characteristics of 2 women with germline complex X-chromosomal rearrangements. Patient 1 presented with nonsyndromic ovarian dysfunction and hyperthyroidism; patient 2 exhibited various Turner syndrome- associated symptoms including ovarian dysfunction, short stature, and autoimmune hypothyroidism.

Catastrophic cellular events leading to complex chromosomal rearrangements in the germline.

Although complex chromosomal rearrangements were thought to reflect the accumulation of DNA damage over time, recent studies have shown that such rearrangements frequently arise from 'all-at-once' catastrophic cellular events. These events, designated chromothripsis, chromoanasynthesis, and chromoanagenesis, were first documented in the cancer genome and subsequently observed in the germline. These events likely result from micronucleus-mediated chromosomal shattering and subsequent random reassembly of DNA fragments, although several other mechanisms have also been proposed.

Targeted use of prednisolone with the second IVIG dose for refractory Kawasaki disease.

Background: Prednisolone (PSL) has been suggested to be useful for the treatment of Kawasaki disease (KD) resistant to i.v. immunoglobulin (IVIG), but much remains to be elucidated regarding its use.

Human Chorionic Gonadotropin Stimulation Test in Prepubertal Children with Micropenis Can Accurately Predict Leydig Cell Function in Pubertal or Postpubertal Adolescents.

Background/aim: To evaluate the accuracy of the human chorionic gonadotropin (hCG) stimulation test in children with micropenis in predicting later Leydig cell function.

Methods: We conducted a retrospective investigation of testosterone response to a 3-day hCG test (3,000 IU/m2/day) in prepuberty to indicate the need for hormone replacement therapy (HRT) in adolescence.

Results: Fifty Japanese boys (range, 0.

Meningitis and septicemia caused by nontypeable Haemophilus influenzae in a previously healthy 2-year-old girl.

Nontypeable Haemophilus influenzae (NTHi) commonly colonizes the upper respiratory tract of children and causes otitis media, sinusitis, and bronchitis. Invasive NTHi diseases such as meningitis and septicemia have rarely been reported, especially in children with underlying predisposing conditions such as head trauma and immune compromise. However, we report a previously healthy 2-year-old girl who developed meningitis and septicemia caused by NTHi biotype ΙΙΙ.

Absent circadian variation of blood pressure in patients with anorexia nervosa.

Objective: To examine whether circadian rhythm of blood pressure (BP) is altered in patients with anorexia nervosa (AN), and if so, to determine whether it is reversible after refeeding.

Study Design: Ambulatory BP monitoring was performed on 17 female inpatients with AN (mean age, 13.3 +/- 1.

Testicular volume in Japanese boys up to the age of 15 years.

Unlabelled: Previous studies have indicated that Japanese children grow and mature significantly faster than Caucasian children, thus calling for a separate reference standard for each skeletal and sexual maturity index. To establish normal reference values for testicular volume in Japanese boys, we studied from 1985 to 1995, 900 healthy male children of 0 to 15 years of age for medical history, physical examination, height, weight, sitting height, and head circumference measurements, Tanner sex maturity stage, and testicular size. The testicular volume was determined using a Prader orchidometer by the same observer (N.

Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3-Xp22.11.

We report on deletion mapping and X inactivation analysis of a gene for X linked non-specific mental retardation (MRX) at Xp21.3-Xp22.11, on the basis of molecular studies in two families with Xp microdeletions involving the DAX-1 gene.