Time from drainage to surgery is an independent predictor of morbidity for moderate-to-severe acute cholecystitis: a multivarirble analysis of 259 patients.

Background: Acute cholecystitis (AC) is an acute inflammatory disease of the gallbladder and one of the most frequent causes of acute abdominal pain. Early cholecystectomy is recommended for mild cholecystitis. However, the optimal surgical timing for moderate-to-severe cholecystitis requiring percutaneous transhepatic gallbladder drainage (PTGBD) remains unclear.

Curative Surgery After Neoadjuvant Chemotherapy for Locally Advanced Sigmoid Colon Cancer With Extensive Abdominal Wall Invasion: A Case Report.

Locally advanced colon cancer (LACC) can be cured under an appropriate treatment strategy, but the decision on the treatment strategy is also important in terms of long-term prognosis. In cases with extensive abdominal wall involvement, it is especially important to secure adequate margins and repair abdominal wall defects. Recently, neoadjuvant chemotherapy (NAC) for LACC has shown promise in improving the chance of cure with tumor shrinkage.

Stratification of Stage II Colon Cancer Using Recurrence Prediction Value: A Multi-institutional International Retrospective Study.

Objective: To create a recurrence prediction value (RPV) of high-risk factor and identify the patients with high risk of cancer recurrence.

Background: There are several high-risk factors known to lead to poor outcomes. Weighting each high-risk factor based on their association with increased risk of cancer recurrence can provide a more precise understanding of risk of recurrence.

Cluster Formation for Analyses of Glaucomatous Visual Field Defects in Central 10-2 Visual Field in Normal Tension Glaucoma Eyes.

Purpose: To develop a cluster system to analyze the retinal sensitivity loss of 68 test points in the central 10 degrees of standard automated perimetry (SAP) in eyes with normal tension glaucoma (NTG).

Patients And Methods: Patients with NTG who met the following criteria were included: visual acuity ≥0.7, SAP-derived mean deviation ≥-15 dB, and pattern deviation probability plots with at least one point with a probability of <0.

Type 3 antenatal Bartter syndrome presenting with mild polyuria.

Bartter syndrome (BS) is a well-recognised inherited tubular dysfunction that causes polyuria, metabolic alkalosis and hypokalaemia. Among BS cases, antenatal/neonatal BS (ABS) usually shows distinct polyhydramnios prenatally and presents features of BS in the early neonatal period. We encountered a premature infant with type 3 ABS presenting with mild polyuria and discuss the pathogenesis of mild polyuria in type 3 ABS.

Inhibition of Heat-shock Protein 27 Reduces 5-Fluorouracil-acquired Resistance in Human Colon Cancer Cells.

Background/aim: In previous work we showed that expression of heat-shock protein 27 (HSP27; encoded by HSPB1) was associated with inherent resistance to 5-fluorouracil (5-FU). However, the relationship between HSP27 and acquired resistance remains unknown.

Materials And Methods: We generated an acquired resistance model (WiDr-R) of a colon cancer cell line by exposing WiDr cells to 5-FU.

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Kabuki syndrome is characterized by a variable degree of intellectual disability, characteristic facial features, and complications in various organs. Many variants have been identified in two causative genes, that is, lysine methyltransferase 2D (KMT2D) and lysine demethylase 6A (KDM6A). In this study, we present the results of genetic screening of 100 patients with a suspected diagnosis of Kabuki syndrome in our center from July 2010 to June 2018.

IGF2 Mutations.

Objective: IGF2 is a paternally expressed growth-promoting gene. Here, we report five cases with IGF2 mutations and review IGF2 mutation-positive patients described in the literature. We also compare clinical features between patients with IGF2 mutations and those with H19/IGF2:IG-DMR epimutations.

Comprehensive analysis of syndromic hearing loss patients in Japan.

More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes.

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).

Split-hand/foot malformation (SHFM) is a clinically and genetically heterogeneous condition. We sequentially performed screening of the previously identified Japanese founder 17p13.3 duplication/triplication involving BHLHA9, array comparative genomic hybridization, and whole exome sequencing (WES) in newly recruited 41 Japanese families with non-syndromic and syndromic SHFM.

[A Case of Duodenal Perforation during Bevacizumab Combination Chemotherapy in a Patient with Multiple Lung Metastasis after a Sigmoidectomy].

A 73-year-old man underwent laparoscopic sigmoidectomy for sigmoid colon cancer. Two years after the operation, multiple lung metastasis was diagnosed and chemotherapy with bevacizumab, irinotecan, and TS-1®was started in the patient. However, epigastric pain developed 73 days after the initial course of chemotherapy.

SATB2-associated syndrome in patients from Japan: Linguistic profiles.

Cleft palate can be classified as either syndromic or nonsyndromic. SATB2-associated syndrome is one example of a syndromic cleft palate that is accompanied by intellectual disability, and various dental anomalies. SATB2-associated syndrome can be caused by several different molecular mechanisms including intragenic mutations and deletions of SATB2.

The impact of the mesorectal apparent diffusion coefficient value on surgical difficulty in laparoscopic anterior resection for rectal cancer.

Purpose: We aimed to clarify the impact of the apparent diffusion coefficient (ADC) value of the mesorectum from preoperative magnetic resonance imaging (MRI) on surgical difficulty in laparoscopic anterior resection (Lap-AR) for rectal cancer.

Methods: In total, 67 patients who had undergone curative Lap-AR for rectal cancer in our hospital from January 2008 to March 2015 and had preoperative MRI findings available were included. We randomly calculated the average ADC in three regions of the mesorectum at the level of the upper edge of the superior border of the femur.

Changes in adherence and associated factors among patients on newly introduced prostaglandin analog and timolol fixed-combination therapy.

Purpose: We investigated patient adherence and factors related to a newly introduced prostaglandin analog and timolol fixed-combination eye drops (PGTFC).

Patients And Methods: The Glaucoma Research on Adherence to fixed-Combination Eye drops in Japan (GRACE) study group performed a nationwide prospective questionnaire survey. Participants in this study were patients with glaucoma who were scheduled to receive any type of PGTFC for the first time.

Efficacy and safety of cardioversion with continuous landiolol infusion for atrial tachyarrhythmia in an inflammatory state caused by volvulus in a child with TARP syndrome and postoperative tetralogy of Fallot.

A 2-year-old boy was diagnosed with TARP syndrome and underwent surgery for tetralogy of Fallot. He developed fever and had an acute abdomen. After 12 hours, atrial tachyarrhythmia (300 beats/min [bpm]) occurred.

Waardenburg syndrome with isolated deficiency of myenteric ganglion cells at the sigmoid colon and rectum.

Waardenburg syndrome (WS) has the characteristic clinical features caused by the embryologic abnormality of neural crest cells. WS patients sometimes suffer from functional intestinal obstruction. When it is Hirschsprung disease (HD), the WS is diagnosed as type 4 WS.