Successful administration of eltrombopag in preparation for peritoneal dialysis catheter placement in a girl with MYH9-related disease.

MYH9-related disease is an autosomal dominant disorder characterized by macrothrombocytopenia, nephropathy, inclusion bodies in leukocytes, sensorineural hearing loss, and cataract. Severe cases require kidney replacement therapy in the patient's second decade of life; thrombocytopenia constitutes a major risk factor for hemorrhagic complications during dialysis initiation or kidney transplantation. Prophylactic platelet transfusion prior to surgery is commonly administered to affected patients in these cases. However, transfusion in such patients has limitations other than the general risk of allergic reactions and blood-borne infections; it may also trigger alloimmunization, leading to platelet transfusion resistance or the development of anti-donor antibodies in potential kidney transplant recipients. Here, we describe prophylactic administration of eltrombopag, an oral thrombopoietin receptor agonist, prior to laparoscopic peritoneal dialysis catheter placement in a 15-year-old girl with MYH9-related disease. Her platelet count was approximately 30 × 103/µL at baseline; it increased to 61 × 103/µL on the day before surgery, thereby avoiding the need for platelet transfusions. There were no major bleeding or adverse events associated with eltrombopag administration. Thus, eltrombopag may be a safe and effective alternative to prophylactic platelet transfusions in patients with MYH9-related disease.

A case of right hypodysplastic kidney and ectopic ureter associated with bicornuate uterus in a prepubertal girl.

Congenital anomalies of the kidney and urinary tract (CAKUT) are frequently associated with Mullerian anomalies. This can be explained by the fact that Mullerian duct elongation depends on the preformed Wolffian duct during embryogenesis. While CAKUT such as unilateral renal agenesis and multicystic dysplastic kidney are commonly identified prenatally by routine ultrasound, the diagnosis of Mullerian anomalies is often delayed, increasing the risk of complications such as endometriosis or pelvic inflammatory disease. Herein, we report a case of a premenarchal girl who had initially been diagnosed with right multicystic dysplastic kidney. She presented with continuous urinary incontinence at 4 years old and further evaluation by contrast-enhanced computed tomography, cystoscopy, colposcopy, ureterography, and hysterosalpingography led to the final diagnosis of right hypodysplastic kidney and ectopic ureter associated with bicornuate uterus. A strong family history of uterine malformations prompted the examination of the uterus. Genetic testing was suggested but the family declined. She is planned to be referred to a gynecologist at puberty for further assessment. The recognition and screening rate of concurrent Mullerian anomalies in CAKUT patients varies between institutions. Screening for Mullerian anomalies in prediagnosed CAKUT girls may enable to provide timely counseling and to prevent gynecological complications.

The development of a prediction model for arrest of labour to be used at regular check-ups, during 36 or 37 gestational weeks, for primiparas: a retrospective cohort study.

PURPOSE: An emergency caesarean section (CS) has more complications than a planned CS. The arrest of labour is a major indication for an emergency CS. This study aimed to develop a prediction model for the arrest of labour to be used in regular check-ups at 36 or 37 gestational weeks for primiparas. METHODS: This was a retrospective cohort study conducted at a single institution in Japan using data from January 2007 to December 2013. Primiparas attending regular check-ups during 36 or 37 gestational weeks, with live single foetuses in a cephalic presentation were included. The outcome was the incidence of labour arrest. Candidate predictors included 25 maternal and foetal findings. We developed a prediction model using logistic regression analysis with stepwise selection. A score was assigned to each predictor of the final model based on their respective ß coefficients. RESULTS: A total of 739 women were included in the analysis. Arrest of labour was diagnosed in 47 women (6.4%), and all of them delivered by emergency CS. The predictors in the final model were a Bishop score ≤ 1, maternal height ≤ 154 cm, foetal biparietal diameter ≥ 91 mm, pre-pregnancy weight ≥ 54 kg, maternal haemoglobin concentration ≥ 11.0 g/dl, and amniotic fluid index ≥ 13. The area under the receiver operating characteristic curve was 0.783. CONCLUSION: We have developed the first model to predict arrested labour before its onset. Although this model requires validation using external samples, it will help clinicians and pregnant women to control gestational conditions and make decisions regarding planned CS.

A case of 17q12 deletion syndrome that presented antenatally with markedly enlarged kidneys and clinically mimicked autosomal recessive polycystic kidney disease.

The gene encoding hepatocyte nuclear factor 1ß (HNF1B), a transcription factor involved in the development of the kidney and other organs, is located on chromosome 17q12. Heterozygous deletions of chromosome 17q12, which involve 15 genes including HNF1B, are known as 17q12 deletion syndrome and are a common cause of congenital anomalies of the kidneys and urinary tract (CAKUT) and may also present as a multisystem disorder. Autosomal recessive polycystic kidney disease (ARPKD), on the other hand, is a severe form of polycystic kidney disease caused by mutations in PKHD1 (polycystic kidney and hepatic disease 1). It is important to differentiate between these two diseases because they differ significantly in inheritance patterns, renal prognosis, and extrarenal manifestations. Here we report a case of 17q12 deletion syndrome that clinically mimicked ARPKD in which genetic testing was essential for appropriate genetic counseling and monitoring of possible extrarenal manifestations. The patient presented antenatally with markedly enlarged kidneys and showed bilaterally hyperechoic kidneys with poor corticomedullary differentiation and multiple cysts on ultrasonography. There was no family history of renal disease. ARPKD was clinically suspected and genetic testing was performed to confirm diagnosis, resulting in an unexpected finding of 17q12 deletion including HNF1B. While some research has been done to identify patients that should be tested for HNF1B anomalies, this case illustrates the difficulty of recognizing HNF1B-related disease and the importance of genetic testing in appropriately managing CAKUT cases.

Rituximab-induced serum sickness in a 6-year-old boy with steroid-dependent nephrotic syndrome.

Rituximab (RTX) is a murine-human chimeric monoclonal antibody against CD20 that has been proven effective for preventing relapse in frequently-relapsing or steroid-dependent nephrotic syndrome (NS). Serum sickness, a type-3 hypersensitivity reaction resulting from injection of foreign proteins, has been reported in patients treated with RTX. Herein, we describe a case of RTX-induced serum sickness (RISS) in a 6-year-old boy with steroid-dependent NS. He presented to the hospital with fever and polyarthralgia at 10 days after his fourth dose of RTX. Although he was started on empiric intravenous antibiotics, there was no evidence of septic arthritis and his symptoms resolved over the course of 4 days. He was diagnosed with RISS based on the chronology of RTX administration and the acute-onset self-limiting course of the polyarthritis. His serum human anti-chimeric antibody (HACA) level on day 53 exceeded the limit of quantification (5000 ng/mL). The pathogenesis of RISS and the role of HACAs remain unclear. It is important for clinicians to recognize RISS, because further infusions of RTX may cause more severe reactions in patients with a history of RISS.

Inner retinal changes in acute-phase Vogt-Koyanagi-Harada disease measured by enhanced spectral domain optical coherence tomography.

PURPOSE: To assess the changes of inner retinal thickness in patients with Vogt-Koyanagi-Harada disease (VKH) using enhanced spectral domain optical coherence tomography (SD-OCT). METHODS: We retrospectively reviewed enhanced SD-OCT images of 12 eyes of seven consecutive patients with VKH in both acute and convalescent phases. Inner retinal thickness, measured from the inner limiting membrane to the inner plexiform layer (ILM-IPL), and nerve fiber layer (NFL) thickness at 1.5 and 2.0 mm along the outer border of the IPL from the central fovea at nasal, temporal, superior, and inferior points were measured. Twelve eyes of 12 patients with central serous chorioretinopathy (CSC) were evaluated as controls. RESULTS: In the VKH patients, ILM-IPL thickness in the acute phase was significantly greater than that in the convalescent phase at each point of the retina; however, an intraretinal cystoid space was not observed. The thickness of the NFL was significantly larger in the nasal quadrant. On fluorescein angiography, no leakage from the retinal vasculature was seen in any of the cases. In the CSC cases, no differences were seen in ILM-IPL thickness between the acute and convalescent phases at any point. CONCLUSIONS: Inner retinal thickness in the acute phase of VKH is larger than in the convalescent phase.

Supported liquid membrane transport of alkali metal cations by monoazacryptand with a partially fluorinated sidearm and the corresponding monoazacrown ethers.

Monoazacryptand [20.18.18] (1), monoaza-15-crown-5 (2a), and monoaza-18-crown-6 (2b) with a partially fluorinated sidearm were newly prepared and their transport abilities were estimated in a supported liquid membrane containing a mixture of 2- (perfluorohexyl) ethyl alcohol and 2- (perfluorooctyl) ethyl alcohol. In competitive passive transport of K+, Na+, and Li+ under neutral conditions, the K+ selectivity increased in the order: ionophore 2a

Incidence and temporal pattern of anorexia, diarrhea, weight loss, and leukopenia in patients with cervical cancer treated with concurrent radiation therapy and weekly cisplatin: comparison with radiation therapy alone.

OBJECTIVE: To investigate the temporal patterns of anorexia, diarrhea, weight loss, and leukopenia in chemoradiation therapy (CRT) for cervical cancer compared with radiation therapy (RT) alone. METHODS: Acute toxicities in 43 patients receiving RT alone and 40 patients receiving CRT were retrospectively analyzed. Patients were treated with a combination of external beam irradiation and high-dose rate intracavitary irradiation. Cisplatin was given once a week for 5 weeks concurrently with the external beam irradiation. CRT was divided into low-dose CRT group (cisplatin, 20-30 mg/m(2), n = 16) and high-dose CRT group (cisplatin, 35-40 mg/m(2), n = 24). Toxicities were evaluated before, every week up to 7 weeks during the cycle, and 12 weeks after initial irradiation, according to the National Cancer Institute Common Toxicity Criteria version 2. RESULTS: In the high-dose CRT group, anorexia during the first 5 weeks, leukopenia after 5 weeks, and weight loss after 3 weeks were significantly higher than those in the RT alone group. In the low-dose CRT group, anorexia between 1 and 2 weeks, leukopenia after 5 weeks, and weight loss between 3 and 4 weeks were significantly higher than those in the RT alone group. Diarrhea between 1 and 2 weeks in the high-dose CRT group (P = 0.037, P = 0.025) and between 2 and 3 weeks in the low-dose CRT group (P = 0.015, P = 0.036) was significantly lower compared with RT alone. CONCLUSION: These data can help us understand when patients are likely to develop maximal toxicities and to manage them with optimal timing.