Noriko Takeda

Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation

Simpson–Golabi–Behmel syndrome is a rare overgrowth syndrome caused by the GPC3 mutation at Xq26 and is clinically characterized by multiple congenital abnormalities, intellectual disability, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Although this syndrome is known to be associated with a risk for embryonal tumors, similar to other overgrowth syndromes, the pathogenetic basis of this mode of tumorigenesis remains largely unknown. Here, we report a boy with Simpson‐Golabi–Behmel syndrome who had a germline loss‐of function mutation in GPC3. At 9 months of age, he developed hepatoblastoma. A comparison of exome analysis results for the germline genome and for the tumor genome revealed a somatic mutation, p.Ile35Ser, within the degradation targeting box of β‐catenin. The same somatic mutation in CTNNB1 has been repeatedly reported in hepatoblastoma and other cancers. This finding suggested that the CTNNB1 mutation in the tumor tissue represents a driver mutation and that both the GPC3 and the CTNNB1 mutations contributed to tumorigenesis in a clearly defined sequential manner in the propositus. The current observation of a somatic CTNNB1 mutation in a hepatoblastoma from a patient with a germline GPC3 mutation supports the notion that the mutation in GPC3 may influence one of the initial steps in tumorigenesis and the progression to hepatoblastoma.

Surgical technique to prevent spillage of cyst fluid during operation for cystic ovarian tumors

We describe a new technique to prevent spillage of cyst fluid in patients undergoing surgery for cystic ovarian tumors. The cyst is first covered with a sterilized surgical sheet applied with quick-drying glue and is then punctured. This technique completely prevents spillage of cyst fluid into abdominal cavity.

Congenital prepubic sinus associated with a urachal remnant: report of a case.

Congenital prepubic sinus is a rare congenital anomaly situated in the midline of the lower abdomen. We report a case of congenital prepubic sinus, closely associated with a urachal remnant. Preoperative magnetic resonance imaging showed clearly that the sinus tracked the urachus caudally. This finding supports the theory that the anomaly is caused by abnormal remnant tissue originating from the cloacal membrane, which tracks the allantois duct caudally along with fetal longitudinal growth.

Association between climatic elements and acute appendicitis in Japan

BACKGROUNDnIn Japan, it has been reported that an increase in atmospheric pressure is associated with a higher incidence of acute appendicitis. The aim of this epidemiologic study was to investigate the association between climatic elements and the incidence of acute appendicitis.nnnMATERIALS AND METHODSnA case-crossover design was used in the present study. Two wk before diagnosis was used for the target period. The same 2-wk period, but 1, 2, and 3xa0y before diagnosis, was used for the control period. The study participants were patients with acute appendicitis (10-29xa0y) from 14 facilities in the Greater Tokyo Area. Mean of the observed values for atmospheric pressure, temperature, relative humidity, and hours of sunshine calculated for each target and control period were used as climatic elements to investigate trends 1 and 2xa0wk before diagnosis.nnnRESULTSnThe year of diagnosis, a statistically significant moderate upward trend in atmospheric pressure was observed during the 2-wk period before diagnosis of acute appendicitis (tauxa0=xa00.47; Pxa0=xa00.0213), whereas a weak nonsignificant downward trend was observed 1xa0y before diagnosis (tauxa0=xa0-0.29; Pxa0=xa00.1596), and weak nonsignificant upward trends were observed 2 (tauxa0=xa00.24; Pxa0=xa00.2505) and 3xa0y (tauxa0=xa00.28; Pxa0=xa00.1634) before diagnosis.nnnCONCLUSIONSnAn association was found between atmospheric pressure and the incidence of acute appendicitis. However, no significant differences were found in relation to sex or age. These findings suggest that changes in atmospheric pressure are associated with the likelihood of patients visiting the hospital.

Efficacy of the traditional Japanese medicine goreisan for the resolution of spermatic cord hydrocele in children

PurposeGoreisan, a traditional Japanese medicine, has previously been used for hydrostatic modulation. This retrospective study investigated the efficacy of goreisan for spermatic cord hydrocele resolution in children.MethodsSeventy-two boys treated for spermatic cord hydrocele between 2012 and 2015 were included; Goreisan was administered to 16 [group G, median age 3 (1–8)xa0years], and 56 were followed without medication [group C, median age 1 (0–8)xa0years]. An age-matched comparison was conducted between 14/16 group G patients (group g) and 14/56 group C patients (group c).ResultsIncidences of resolution were higher in groups G and g than in groups C and c, respectively, both during the study period and within the first 6-month observation period; groups G and g also had a significantly lower incidence of surgery for hydrocele than in groups C and c, respectively. The interval from the commencement of observation until hydrocele resolution was significantly shorter in group G than in group C, but not in group g than in group c.ConclusionGoreisan can effectively promote the resolution of spermatic cord hydrocele in children and may be a valid treatment choice for this condition.