A case of successful management of nonresectable advanced cholangiocellular carcinoma by intermittent hepatic arterial infusion at home

An 82-year-old female was referred to our hospital because a 16 x 8 cm tumor detected in her liver by abdominal ultrasonography (echo, hereafter) and CT. The patient was diagnosed as having highly advanced cholangiocellular carcinoma (CCC) by abdominal angiography. Since excision of the tumor was impossible due to the patient's age, a reservoir was indwelled for intra-arterial injection into the liver. Continuous injection of 1,000 mg 5-FU over 24 hours was performed every 2 weeks using a portable disposable pump 70 times. The tumor has been markedly reduced since the start of chemotherapy, with a reduction rate (PR) of 98% over the 3 years until the present. Since the frequency of administration was low, only twice a month, the patient had few side effects despite her old age, and injections could be performed in the outpatient department. Usually, the prognosis for CCC is poor. However, the patient has maintained a good QOL with the periodic intra-arterial injection of the carcinostatic into the liver, and this treatment has had a strong antitumor effect. This chemotherapy is thus considered useful for CCC which can not be resected.     

Two single nucleotide polymorphisms in <Emphasis Type="Italic">PRDM9</Emphasis> (<Emphasis Type="Italic">MEISETZ</Emphasis>) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest

Purpose

To investigate whether defects in human PRDM9, CDK2 and PSMC3IP are associated with azoospermia Mutational analysis was performed in Japanese patients with azoospermia caused by meiotic arrest.

Methods

Mutational screening of the coding regions of human PRDM9, CDK2 and PSMC3IP was done by direct sequencing using genomic DNA from 18 Japanese patients. Statistical analysis of the detected coding single nucleotide polymorphisms (cSNPs) in patients and normal control men was then carried out.

Results

One cSNP was detected in CDK2 and PSMC3IP. There were no significant differences in genotype distribution and allele frequencies between the patient and control groups in these two genes. However, three novel cSNPs were detected in the PRDM9. The genotype and allele frequencies of heterozygotes in SNP2 and SNP3 of PRDM9 were significantly higher in the patient group than in the control group.

Conclusion

We found a possible association between PRDM9 and azoospermia by meiotic arrest.

     

Simultaneous cesarean section and radical nephrectomy for angiomyolipoma with spontaneous bleeding during pregnancy: a case report

BACKGROUND: Renal angiomyolipoma with spontaneous bleeding during pregnancy is an extremely rare condition and may jeopardize both the mother and fetus. The ethics of reproductive medicine, method of diagnosis, option for management and optimal time for surgical intervention can be arguable in this situation. CASE: A 31-year-old woman presented with dull right flank pain at 12 weeks' gestation. Abdominal sonography and renal magnetic resonance imaging revealed a hypervascular and fat-containing mass with mother and fetus bleeding at the right kidney. Due to stable hemodynamic status, the patient was treated conservatively and underwent elective, simultaneous cesarean section and radical nephrectomy safely at 38 weeks' gestation. Angiomyolipoma of the right kidney was diagnosed on pathologic examination. CONCLUSION: Renal angiomyolipoma with spontaneous bleeding during pregnancy is a dangerous condition that may cause mortality in the mother and fetus, but elective, simultaneous cesarean section and radical nephrectomy can be performed safely if the hemodynamic status is stable.     

Breast-milk levels of polybrominated diphenyl ether flame retardants in relation to women's age and pre-pregnant body mass index

The aim of the present study was to determine associations between the occurrence of PBDEs in breast milk of women and their demographic parameters. Participants were randomly recruited from the general population in southern Taiwan. Thirty two breast milk samples were collected and subsequently 30 congeners of PBDEs were analyzed using a high resolution gas chromatograph with a high resolution mass spectrometer. The mean and median of ΣPBDEs were 3.54 and 3.31 ng/g lipid, respectively. ΣPBDE levels in breast milk were not significantly correlated with age and pre-pregnant BMI of Taiwanese mothers. We did find, however, that the higher hexaBDE level was significantly related to older age (>29 years). Higher levels of ΣPBDEs and higher brominated PBDEs, such as nonaBDEs and decaBDE, had slightly but not significantly negative correlations with lower pre-pregnant BMI (≤21 kg/m²). There were no significant differences in PBDE levels among parity and ethnic groups. ΣPBDE levels in Taiwanese breast milk were lower than those reported from the United States or Canada. ΣPBDE levels of the present study (2007-2008) are significantly lower than those found in our previous report (2000-2001). Although our results were limited by the sampling size, preliminary results suggest the exploratory relations to show positive associations of PBDE homologues (e.g. triBDEs and hexaBDEs) with maternal age. PBDEs pattern of breast milk may have changed after pentaBDEs were stopped to use in Taiwan.     

Initial Abdominal CT and Laboratory Findings Prior to Diagnosis of Crohn’s Disease in Children

PurposeTo identify initial abdominal computed tomography (CT) and laboratory findings prior to a diagnosis of Crohn’s disease (CD) in children.Materials and MethodsIn this retrospective study, patients (≤18 year-old) who were diagnosed with CD from 2004 to 2019 and had abdominal CT just prior to being diagnosed with CD were included in the CD group. Patients (≤18 years old) who were diagnosed with infectious enterocolitis from 2018 to 2019 and had undergone CT prior to being diagnosed with enterocolitis were included as a control group. We assessed the diagnostic performances of initial CT and laboratory findings for the diagnosis of CD using logistic regression and the area under the curve (AUC).ResultsIn total, 107 patients (50 CD patients, 57 control patients) were included, without an age difference between groups (median 13 years old vs. 11 years old, p=0.119). On univariate logistic regression analysis, multisegmental bowel involvement, mesenteric vessel engorgement, higher portal vein/aorta diameter ratio, longer liver longitudinal diameter, lower hemoglobin (≤12.5 g/dL), lower albumin (≤4 g/dL), and higher platelet (>320×10³/µL) levels were significant factors for CD. On multivariate analysis, multisegmental bowel involvement [odds ratio (OR) 111.6, 95% confidence interval (CI) 4.778–2605.925] and lower albumin levels (OR 0.9, 95% CI 0.891–0.993) were significant factors. When these two features were combined, the AUC value was 0.985 with a sensitivity of 96% and specificity of 100% for differentiating CD.ConclusionMultisegmental bowel involvement on CT and decreased albumin levels can help differentiate CD from infectious enterocolitis in children prior to a definite diagnosis of CD.     

Exploring the Barriers and Motivators to Dietary Adherence among Caregivers of Children with Disorders of Amino Acid Metabolism (AAMDs): A Qualitative Study

Dietary intervention is generally accepted as the mainstay of treatment for patients with disorders of amino acid metabolism (AAMDs). However, dietary adherence to a low-protein diet is always reported as a common challenge among these patients. This study explored the perception of barriers and motivators to dietary adherence among caregivers of AAMD patients in Malaysia. Twenty caregivers of children with AAMDs receiving ongoing treatment at the genetic clinic participated in an online focus group discussion from November to December 2021. Findings showed a total of five interrelated main themes identified from focus group discussion (FGD) exploring parents’ experiences related to the management of their child’s daily diet. The barriers to dietary adherence were burden of dietary treatment, diet and dietary behavior, parenting challenges, limited knowledge related to dietary treatment, and challenges in healthcare system delivery. Key factors facilitating good dietary adherence include good knowledge of dietary treatment, parental coping strategies, social coping, and dietary behavior. In conclusion, despite the existence of several barriers to the implementation of dietary treatment, caregivers managed to use a wide range of coping strategies to overcome some, if not all, of the challenges. The important next step is to develop, in conjunction with multidisciplinary healthcare professionals, feasible implementation strategies that could address these barriers and at the same time improve the quality of life of caregivers.     

Dual-Scale Porosity Alumina Structures Using Ceramic/Camphene Suspensions Containing Polymer Microspheres

This study demonstrates the utility of thermo-regulated phase separable alumina/camphene suspensions containing poly(methyl methacrylate) (PMMA) microspheres as porogens for the production of multi-scale porosity structures. The homogeneous suspension prepared at 60 °C could undergo phase separation during freezing at room temperature. This process resulted in the 3D networks of camphene crystals and alumina walls containing PMMA microspheres. As a consequence, relatively large dendritic pores with several tens of microns size could be created as the replica of frozen camphene crystals. In addition, after the removal of PMMA microspheres via heat-treatment, micron-sized small spherical pores could be generated in alumina walls. As the PMMA content with respect to the alumina content increased from 0 vol% to 40 vol%, while the camphene content in the suspensions was kept constant (70 vol%), the overall porosity increased from 45.7 ± 0.5 vol% to 71.4 ± 0.5 vol%. This increase in porosity is attributed to an increase in the fraction of spherical pores in the alumina walls. Thus, compressive strength decreased from 153 ± 18.3 MPa to 33 ± 7.2 MPa. In addition, multi-scale porosity alumina objects with a honeycomb structure comprising periodic hexagonal macrochannels surrounded by dual-scale porosity walls were constructed using a 3D plotting technique.