Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy.

Background: Biallelic pathogenic variants of LARS1 cause infantile liver failure syndrome type 1 (ILFS1), which is characterized by acute hepatic failure with steatosis in infants. LARS functions as a protein associated with mTORC1 and plays a crucial role in amino acid-triggered mTORC1 activation and regulation of autophagy. A previous study demonstrated that larsb-knockout zebrafish exhibit conditions resembling ILFS.

Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood.

ADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which are often overlooked, particularly in patients with milder symptoms.

Incidence and Risk Factors for Adrenal Crisis in Pediatric-onset Adrenal Insufficiency: A Prospective Study.

Context: Adrenal crisis (AC) is a life-threatening complication that occurs during follow-up of patients with adrenal insufficiency (AI). No prospective study has thoroughly investigated AC in children with primary and secondary AI.

Objective: This work aimed to determine the incidence and risk factors for AC in patients with pediatric-onset AI.

Diabetic lipemia as a predisposing state to acute pancreatitis: a case report and literature review.

Hypertriglyceridemia has been recognized as a common complication of diabetes ketoacidosis (DKA), whereas severe hypertriglyceridemia, also known as diabetic lipemia, rarely occurs and is associated with an increasing risk of acute pancreatitis. We report the case of a 4-year-old girl with new-onset DKA associated with remarkable hypertriglyceridemia. Her serum triglyceride (TG) level was as high as 2490 mg/dL on admission and 11,072 mg/dL on day two during treatment with hydration and intravenous insulin infusion, whereas the critical situation was successfully stabilized by standard treatment for DKA without the occurrence of pancreatitis.

Long-term trends of pediatric type 1 diabetes incidence in Japan before and after the COVID-19 pandemic.

Type 1 diabetes incidence has increased worldwide, although the long-term trends on pediatric type 1 diabetes in Japan remain elusive. To investigate the incidence and secular trend of pediatric type 1 diabetes from 1999 to 2021, including the coronavirus disease 2019 (COVID-19) pandemic years, in Oita Prefecture, Japan. We investigated the number of newly diagnosed patients with type 1 diabetes aged < 15 years from 1999 to 2021.

Leucyl-tRNA synthetase deficiency systemically induces excessive autophagy in zebrafish.

Leucyl-tRNA synthetase (LARS) is an enzyme that catalyses the ligation of leucine with leucine tRNA. LARS is also essential to sensitize the intracellular leucine concentration to the mammalian target of rapamycin complex 1 (mTORC1) activation. Biallelic mutation in the LARS gene causes infantile liver failure syndrome type 1 (ILFS1), which is characterized by acute liver failure, anaemia, and neurological disorders, including microcephaly and seizures.

Sphenoethmoidal meningoencephalocele with variable hypopituitarism: A case report and review of literature.

Sphenoethmoidal meningoencephalocele is a rare congenital meningocele with unclear clinical course. Its clinical symptoms are diverse, and this disease is widely observed across all ages. The prognosis of this disease depends on the severity of the central nervous system complications.

The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years.

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease that is characterized by loss of subcutaneous and visceral adipose tissues, and associated with dysregulation of glycolipid metabolism. In the present study, we reported the clinical manifestations and treatments of Japanese siblings with CGL caused by gene mutations with a clinical course of approximately 20 yr. Comprehensive management with metreleptin therapy, dietary control with additional medication, and psychosocial counseling in line with the patients' stages of growth and development were important in achieving long-term metabolic control of this condition.

Central hypoadrenocorticism associated with Rathke's cleft cyst.

Rathke's cleft cysts (RCCs) are non-neoplastic, sellar or suprasellar epithelium-lined cysts originating from Rathke's pouch in the pituitary gland. Patients with RCCs are usually asymptomatic, but some have only been identified when symptoms manifested in middle age. The characteristics of these patients during childhood or adolescence remains unknown.