Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son

CONTEXT: Although Kallmann syndrome (KS) caused by heterozygous loss of function mutations of the fibroblast growth factor receptor 1 gene (FGFR1) is occasionally associated with characteristic features, such as dental agenesis and cleft palate, FGFR1 mutations remain unidentified in several KS patients with such characteristic features. SUBJECTS AND METHODS: We examined a 14-yr-old Japanese boy with hypogonadotropic hypogonadism, olfactory dysfunction, and dental agenesis and his fertile mother with olfactory dysfunction and dental agenesis. Direct sequencing was performed for FGFR1 using leukocyte genomic DNA from the proband and leukocyte and nail genomic DNA from the mother. To examine a possible somatic mutation, a specific forward primer was designed to introduce a BstXI site into the normal allele only, and nested PCR amplification, followed by BstXI digestion, was carried out three times with different reverse primers. RESULTS: After standard PCR amplifications, a heterozygous 2-bp deletion at exon 10 (1317_1318delTG), which is predicted to cause a frameshift at the 439th codon for serine and resultant termination at the 461st codon (S439fsX461), was identified in the proband, but was not found in the mother. After selective amplification of the mutant allele, this deletion was detected in nail DNA, but not in leukocyte DNA, from the mother. CONCLUSION: The results suggest that the 2-bp deletion took place as a somatic mutation in the mother and was transmitted to the boy because of germline mosaicism. Such a somatic mutation occurs in some apparently FGFR1 mutation-negative KS patients with dental agenesis.     

Relationship between prepulse inhibition of acoustic startle response and schizotypy in healthy Japanese subjects

Prepulse inhibition (PPI) of the acoustic startle reflex (ASR) is the most common psychophysiological index of sensorimotor gating. Several studies have investigated the relationship of PPI of ASR to schizotypy in Caucasians. However, little has been reported on this relationship in Asians. We investigated a possible relationship between PPI of ASR and schizotypy in 79 healthy Japanese subjects. Schizotypy was assessed by the Schizotypal personality Questionnaire (SPQ). PPI was evaluated at signal‐to‐noise ratios (SnRs: difference between background noise intensity and prepulse intensity) of +12, +16, and +20 dB. The total SPQ score, cognitive/perceptual score, and interpersonal score correlated negatively with PPI at SnR of +16 and +20 dB. We conclude that PPI is associated with the trait of schizotypy in healthy Asian subjects.     

Working memory abnormalities in chronic interictal epileptic psychosis and schizophrenia revealed by magnetoencephalography

Working memory (WM) deficits are considered a core cognitive dysfunction in schizophrenia. To determine cognitive abnormalities in chronic interictal psychosis (CIP), and to assess whether these abnormalities are distinguishable from those seen in schizophrenia in terms of WM deficits, we used magnetoencephalography during a WM task performed by patients with CIP, nonpsychotic epilepsy, and schizophrenia and by healthy subjects. Multiple Source Beamformer and Brain-Voyager were used for analysis. In both patients with CIP and those with schizophrenia, we found dorsolateral prefrontal hyperactivation and left inferior temporal hypoactivation, as indicated by alpha event-related desynchronization and synchronization, respectively. Patients with schizophrenia also showed alpha2 event-related desynchronization in the mid-prefrontal cortex relative to healthy controls. Direct comparison of patients with CIP and schizophrenia rendered no difference in source-power changes. Our findings indicate similar functional cognitive abnormalities in CIP and schizophrenia in the prefrontal and left temporal cortex, which supports the possibility that these disorders share common underlying pathophysiological mechanisms.     

Feasibility and efficacy of art therapy for Japanese cancer patients: A pilot study

This study aimed to investigate the feasibility of art therapy for Japanese patients with cancer of the blood and bone marrow, to determine the efficacy on mood and spiritual well-being, and to record comments on the art. The subjects were 7 patients with stable disease who were recruited by a primary physician. In the first session of art therapy, the patients talked about their diseases and then made art to express their emotions. In the second session, they also made art. Drawing, colored pencils, collage, and pastels were used in both sessions and the patients commented on their art. The POMS (Profile of Mood Scale) and FACIT-Sp (Functional Assessment of Chronic Illness Therapy-Spiritual) were used to measure mood and spiritual well-being, respectively. POMS Depression and Fatigue scores tended to decrease after art therapy, while FACIT-Sp scores did not change and were standard for cancer patients. The explanations of the art reflected expressions of desire in the first session and hopes for the future in the second session. These results suggest that art therapy can decrease depression and fatigue in Japanese cancer patients, and promote expression of emotions, desires, and hopes with understanding of the seriousness of the disease.     

Correction to: Retinoic acid receptor γ activation promotes differentiation of human induced pluripotent stem cells into esophageal epithelium

Journal of Gastroenterology - In the original publication of the article, the following errors were noted and corrected in this correction.     

Percutaneous stone removal using cobra-shaped sheath and cholangioscopy for multiple hepatolithiasis with choledochoduodenal anastomotic stenosis

Management of multiple hepatolithiasis with choledochoenteral anastomotic stenosis remains difficult and time-consuming. We report a case of a 77-year-old man with severe right hypochondoralgia, treated with percutaneous transhepatic balloon dilatation of choledocoduodenal anastomotic stenosis and percutaneous stone removal using 8Fr. cobra-shaped sheath and cholangioscopy. Hilar hepatic stones were pushed out into the duodenum through the dilated anastomosis using 5Fr. balloon catheter covered with the sheath and cholangioscopy. For stones located in the left, right anterior and aberrant right posterior hepatic ducts, a guidewire and a removal balloon catheter were inserted by using the cobra-shaped sheath. Stones pulled from the intrahepatic bile ducts to the common hepatic duct were pushed out into the duodenum. Clearance of intrahepatic bile duct stones was confirmed by balloon-occluded cholangiography using the cobra-shaped sheath and 6Fr. balloon catheter. The use of cobra-shaped sheath improved percutaneous stone removal, but the procedure needs further improvement.