Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review.

This study reports the first Asian case of syndromic cleft lip and palate resembling CHARGE-like syndrome, caused by novel compound heterozygous variants of the HYAL2 gene. Hyaluronidase-2 (HYAL2) plays a critical role in hyaluronic acid degradation and tissue remodelling. A 2-year-old Japanese boy presented with growth deficiency, congenital heart disease, craniofacial dysmorphism, micropenis, and developmental delays-features that overlapped with those of CHARGE syndrome.

Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of .

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors often linked to underlying genetic variants. Genetic analysis can promote gene-adjusted, specific follow-up, and surveillance protocols for both patients and their families at risk. We report the case of a 7-yr-old boy with bilateral pheochromocytoma, which recurred a year after partial adrenalectomy.

RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.

Biallelic pathogenic variants in RMRP, the gene encoding the RNA component of RNase mitochondrial RNA processing enzyme complex, have been reported in individuals with cartilage hair hypoplasia (CHH). CHH is prevalent in Finnish and Amish populations due to a founder pathogenic variant, n.71A > G.

A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.

Context: Recently developed long-read sequencing (LRS) technology has been considered an option for CYP21A2 analysis. However, the clinical use of LRS for CYP21A2 analysis is limited.

Objective: This study's objective is to develop an efficient and low-cost LRS system for CYP21A2 screening.

Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report.

Introduction: The variants in the zinc finger (ZF) domains 1-3 in WT1 are one of the major causes of 46,XY disorders of sex development (DSD). Recently, variants in the fourth ZF (ZF4 variants) were reported to cause 46,XX DSD. However, all the 9 patients reported were de novo, and no familial cases were identified.

Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan.

Purpose: Artemis is an exonuclease essential for V(D)J recombination and repair of DNA double-stranded breaks. Pathogenic variants in DCLRE1C encoding Artemis cause TBNK severe combined immunodeficiency (SCID), and patients with Artemis-deficient SCID (ART-SCID) require definitive therapy with allogeneic hematopoietic cell transplantation (HCT). Here we describe the clinical and genetic characteristics of patients with ART-SCID who were diagnosed in Japan from 2003 to 2022.

Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant.

AMOTL1 is a member of the Motin protein family and localizes to tight junctions and is involved in cell polarity and paracellular permeability. Pathological variants have been reported in three patients from two separate families in recent years. The clinical spectrum includes cleft lip and palate along with a high incidence of congenital cardiac disease and ear malformations.

Atrophic autoimmune thyroiditis complicated with systemic lupus erythematosus.

Atrophic autoimmune thyroiditis (AAT) is a type of autoimmune thyroiditis that causes hypothyroidism without thyroid enlargement. AAT is distinguished from Hashimoto's disease (HD) by the absence of thyroid enlargement. AAT is rare in children and clinically characterised by severe primary hypothyroidism.

Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation.

Background: The most severe forms of congenital hyperinsulinism (CHI) are caused by inactivating mutations of two KATP channel genes, KCNJ11 and ABCC8. Unresponsiveness to diazoxide and need for subtotal pancreatectomy can usually be predicted by genetic form, particularly biallelic mutations in KATP channel genes. A few reports indicated marked clinical heterogeneity in siblings with identical biallelic mutations in ABCC8.

[Combined use of the GlideScope and fiberoptic bronchoscope for tracheal intubation in a patient with difficult airway].

We report a case of successful tracheal intubation of a double-lumen tube with combined use of a videolaryngoscope (GlideScope) and a fiberoptic bronchoscope, in a patient with difficult airway, in whom intubation using the GlideScope had failed. A 71-year-old man with lung cancer was scheduled for the middle lobe lobectomy under general anesthesia. Anesthesia was induced with propofol, fentanyl and sevoflurane, and after confirmation of adequate ventilation through a facemask, rocuronium was given.

[A case of suspected dry tap during spinal anesthesia for caesarean section].

Spinal anesthesia was attempted in a 21-year-old woman for acute cesarean section with lumbar puncture at L3-4 and L4-5 in another hospital, but it was abandoned after more than 10 attempts because no cerebrospinal fluid (CSF) was seen flowing. She was transferred to our hospital, and we attempted spinal anesthesia at L2-3 and CSF was seen flowing. Although 0.

[Effect of landiolol and combined use of landiolol and olprinone on hemodynamics in patients undergoing off-pump coronary artery bypass grafting].

Background: Beta blockers are frequently used to reduce cardiac oxygen demand in off-pump coronary artery bypass grafting (OPCAB). However, significant bradycardia or negative inotropic effects are seen on occasion. We hypothesized that combined use of landiolol (L), an ultra short-acting beta blocker, and olprinone (O), a phosphodiesterase 3 inhibitor, is useful because it can increase cardiac index and prevent tachyarrhythmia even during dislocation of the heart in OPCAB.