NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children

Podocin is an integral membrane protein encoded by NPHS2, which is mapped to 1q25-31 and is exclusively expressed in glomerular podocytes. NPHS2 mutations are responsible for autosomal recessive familial steroid-resistant nephrotic syndrome (SRNS) with minor glomerular abnormalities or focal segmental glomerulosclerosis (FSGS), which is characterized by early childhood onset (age less than 6 years) and rapid progression to chronic renal insufficiency. This gene mutation is also responsible for an adolescent/adult onset form of autosomal recessive familial FSGS with heavy proteinuria. It has been demonstrated that sporadic SRNS and heavy proteinuria are also due to NPHS2 gene mutations. We isolated genomic DNA from 36 Japanese children with chronic renal insufficiency caused by SRNS or heavy proteinuria, and analyzed all eight exons and exon-intron boundaries of NPHS2 using the polymerase chain reaction and direct sequencing. The age at onset of disease was 3.9+/-0.5 years. There were 29 patients with SRNS and 7 with heavy proteinuria without nephrotic syndrome at the onset, but all patients developed chronic renal insufficiency 4.6+/-0.8 years after the onset. A new homozygous missense variant of NPHS2, G34E (G101A) in exon 1, was detected in 1 of 36 patients. However, this homozygous variant was also found in 1 of 44 normal controls, suggesting that the mutation is a polymorphism. Two silent variants (T954C and A1038G) in exon 8 of this gene were also identified in some of the patients and normal controls, indicating that the silent variants are also polymorphisms. There was no significant difference in the genotypic and allelic frequencies of T954C and A1038G polymorphisms between the patients and normal controls. In conclusion, NPHS2 gene mutations are not a major cause of chronic renal insufficiency caused by sporadic SRNS or heavy proteinuria in Japanese children.     

The relationships among filling,voiding subscores from International Prostate Symptom Score and quality of life in Japanese elderly men and women

OBJECTIVES: Lower urinary tract symptoms (LUTS) are reported to influence the quality of life (QoL) of the elderly. The aim of this study was to elucidate the relationships among filling problems, voiding problems and QoL in elderly men and women. METHODS: A total of 450 males and 228 females, aged 50 years or older responded to a questionnaire, which included seven questions from the International Prostate Symptom Score (I-PSS) and 16 questions from the King's Health Questionnaire (KHQ). The relations among the filling, voiding subscores deliverable from I-PSS, and KHQ-QoL were investigated. RESULTS: The voiding subscore significantly correlated with the filling subscore with a considerably large standard deviation, and the filling subscore also significantly correlated with I-PSS in both genders. KHQ-QoL was significantly associated with the filling and voiding subscores in almost all domains of the KHQ. Multiple regression analyses demonstrated the filling, voiding subscores, and I-PSS explained the 55% or greater reduction in the QoL in six, four, six domains in men and four, three, four domains in women, respectively. CONCLUSIONS: The filling problems are slightly more associated with KHQ-QoL than voiding problems but filling problems did not appear to predominantly affect QoL as expected in both genders. We believe it valid to use I-PSS to evaluate voiding problems as well as filling problems in the elderly women.     

Walking balance and compensatory gait mechanisms in surgically treated patients with adult spinal deformity

Background Context

Gait patterns and their relationship to demographic and radiographic data in patients with adult spinal deformity (ASD) have not been fully documented.

Assessment of single-dose regimen for antimicrobial prophylaxis to prevent perioperative infection in urologic surgery

A single-dose ofantimicrobial prophylaxis (AMP) was administered parenterally for prevention of perioperative infection in a total of 206 urologic surgeries including 114 endoscopic-instrumental, 92 clean, and 20 clean-contaminated procedures between January and December, 2007, and surgical site infections (SSI), urinary tract infections (UTI), and remote infections (RI) were prospectively surveyed. The definition of a single-dose of AMP allowed the administration of a second dose of an antimicrobial during a surgical procedure that exceeded 3 hours but not parenteral or oral administration at the end of the procedure, in the recovery room, or at a later time over a period of more than 24 hours. UTI was observed in 3 cases (2.7%) after endoscopic-instrumental procedures and in 1 case (5%) after clean-contaminated procedures while no case was associated with UTI in clean procedures. SSI was seen in 1 case each after clean procedures (1.1%) and after clean-contaminated procedures (5%), and RI was seen in 2 cases (2.2%) after clean procedures. A single-dose regimen of AMP was effective for prevention ofperioperative infections including SSI, UTI, and RI in endoscopic-instrumental, clean, and clean-contaminated surgical procedures in urology.     

Myocardial protection: efficacy of a novel magnesium-based cardioplegia (RS-C) compared to St Thomas' Hospital cardioplegic solution

Cardiac surgery patients now tend to be sicker with more severe disease; consequently, improved protection is important. We compared St Thomas' Hospital solution (STH2: hyperkalaemia and hypermagnesaemia) to a hypermagnesaemia-alone cardioplegia (RS-C) based on a novel non-phosphate buffered crystalloid solution (AqixRS-I). Isolated Langendorff-perfused rat hearts were used (function measured). Initial studies established optimal magnesium concentration as 25 mmol/l (LVDP recovery after 50 min at 37 degrees C global ischaemia (GI) for 16, 25, 35, 50 mmol/l magnesium vs. STH2 was 48+/-3, 50+/-2, 50+/-3, 30+/-3 and 51+/-2%, respectively). Contracture-related measurements (onset time, peak) for 25 mmol/l RS-C (32+/-1 min, 35+/-1 mmHg) compared favourable (P<0.05) to STH2 (26+/-1 min, 43+/-2 mmHg). LVDP recovery after a single 2-min cardioplegic infusion (with RS-C-25 or STH2) and 20, 30, 40 or 50 min GI was higher for RS-C-25 than STH2 after 20 min GI (81+/-1% vs. 74+/-1%; [P<0.05]) but similar at other GI durations. Subsequent multi-infusion studies (60 min GI, 3x2 min infusions every 20 min) demonstrated significantly improved recovery with RS-C-25 vs. STH2 (LVDP: 73+/-2%, 44+/-1% [P<0.001]; LVEDP: 9+/-2 mmHg, 45+/-2 mmHg [P<0.001]). We conclude that single RS-C infusion with optimal 25 mmol/l magnesium improved protection after short (20 min) GI durations, or after multi-infusions during prolonged (60 min) GI durations. Magnesium-based cardioplegia may be a useful alternative to hyperkalaemic cardioplegia under certain specific conditions.     

Unusual variant of the anterior cerebral artery

A rare abnormality of the A1 segment of the anterior cerebral artery (ACA) is reported. The right ACA bifurcated into two parts at the middle point of the A1 segment, and these segments did not rejoin. The superior right A1 segment connected with the left A1 and formed a single pericallosal artery. The inferior right A1, from which the right ophthalmic artery originated, had no connection with the left A1.     

A case report of bladder hernia associated with prostate cancer

We report a case of bladder hernia. A 68-year-old man was admitted to our hospital for the management of prostate cancer. An egg-sized soft mass was palpated at his right inguinal region. Magnetic resonance imaging and cystography revealed that the mass was a bladder hernia. During radical prostatectomy, we had to resect the bladder hernia for safe regional lymphadenectomy. This hernia was the extraperitoneal type. The stage of prostate cancer was pT3b N0 M0. This is the third reported case of inguinal bladder hernia associated with prostate cancer in Japan.     

Osteosarcoma in a pregnant patient with McCune–Albright syndrome

Malignant transformation of fibrous dysplasia is very rare and has not been previously described in patients with McCune–Albright syndrome in the absence of radiation treatment during gestation. Here, we report a 38-year-old pregnant woman with McCune–Albright syndrome and acromegaly accompanied by osteosarcoma. The patient was in the 6th week of pregnancy, when she visited our hospital. She had multiple fibrous dysplasia, skin pigmentation, and acromegaly. The markedly high bone turnover rate during pregnancy tended to decrease after a normal delivery. Fibrous dysplasia of the lower jaw rapidly increased in the 37th week of pregnancy, and the tumor was surgically resected after delivery. Pathological examination of the resected tumor revealed fibrous dysplasia admixed with osteosarcoma containing chondroblastic and osteoblastic tissue. We firstly reported a case of osteosarcoma in a patient with McCune–Albright syndrome, which rapidly progressed during pregnancy.     

Status of Involved Lymph Nodes and Direction of Metastatic Lymphatic Flow Between Submucosal and T2-4 Thoracic Squamous Cell Esophageal Cancers

Background  Three-field lymph node dissection for thoracic esophageal cancer is associated with high morbidity and reduced quality of life after surgery. Consequently, minimized lymphadenectomy would be desirable, if appropriate. In the present study, we retrospectively analyzed the status of involved nodes and the direction of metastatic lymphatic flow from tumors into involved nodes to determine whether submucosal squamous cell esophageal cancers are potential candidates for minimized lymphadenectomy. Methods  We enrolled 199 patients who received esophagectomy with extensive lymph node dissection between 1989 and 2005 and retrospectively analyzed their prognoses, distribution of solitary metastatic lymph nodes, and the direction of metastatic lymphatic flow from the tumor, taking into consideration tumor location and depth. Results  Of these patients with submucosal cancers, 83% had 1 or 2 involved nodes, and their esophageal cancer-specific 5-year survival rate was 66%. Solitary lymph node metastasis did not occur in neck lymph nodes in lower thoracic submucosal esophageal cancers, and the direction of metastatic lymphatic flow from the tumor was almost always in one direction. By contrast, T2–4 cancers with 2–4 involved nodes had bidirectional metastatic lymphatic flow from the tumor. Conclusions  There was a difference in the status of lymph node metastasis and the direction of metastatic lymphatic flow from tumors into involved nodes between submucosal and T2–4 thoracic squamous cell esophageal cancers. This analysis may be useful for developing an approach to minimized lymphadenectomy for thoracic esophageal cancers.     

Postoperative management using intensive patient-controlled epidural analgesia and early rehabilitation after an esophagectomy

Purpose  Patient-controlled epidural analgesia (PCEA) was developed for use after surgery for thoracic esophageal cancer to relieve wound pain, introduce early rehabilitation, and provide an uneventful postoperative recovery. Methods  This retrospective study investigated 22 patients who underwent esophageal surgery to determine the efficacy of postoperative management with PCEA. In the PCEA group (n = 12), patients had two epidural catheters inserted to cover both the thoracic and abdominal incision with a patient-controlled bolus capability. Results  Postoperative mechanical ventilation was administered in all cases in the control group (n = 10). On the other hand, this was only necessary in two patients in the PCEA group. The amount of time the patients stayed in the intensive care unit and the hospital was significantly shorter in the PCEA group than in the control group (P < 0.001 and P < 0.01, respectively). Respiratory complications occurred in four patients in the control group, and none in the PCEA group. The mean number of supplemental analgesics administered for breakthrough pain until the 7th postoperative day was 5.5 in the control group, and 1.3 in the PCEA group (P < 0.001). Conclusions  Early rehabilitation is facilitated with intensive PCEA, while it also improves postoperative management and reduces hospitalization after esophageal surgery.