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Introduction. The treatment of thrombi in the renal vein (RV) and inferior vena cava (IVC) requires advanced laparoscopic experience. We present three cases of hand-assisted laparoscopic nephrectomy (HALN) using a novel technique for treating advanced renal cell carcinoma (RCC) with thrombi in the RV and IVC. Case Presentation. Three patients with RCC with RV or IVC thrombus below level I underwent HALN. Two patients had right RCC with RV and IVC thrombi. One patient had left RCC with an RV thrombus. We hooked a vessel loop to the end of the thrombus and pulled it up manually to make space for vascular processing. The RV was narrowed and dissected using Hem-o-lok clips or an Endo GIA stapler. Conclusion. In carefully selected cases, renal vascular processing could be easily and safely performed using a vessel loop in HALN with thrombectomy.

Background: Acute upper limb ischemia (AULI) is a potential complication associated with massages of occluded vascular accesses in patients undergoing hemodialysis. Pharmacological thrombolysis, endovascular intervention and surgical intervention are possible treatment options. Deciding the appropriate treatment strategy is still a controversial issue. Case Presentation: The patient was a 43-year-old woman with renal failure who underwent hemodialysis and peritoneal dialysis. She was found to have an arteriovenous graft (AVG) thrombosis at the start of a hemodialysis session. She underwent massage of the vascular access, and immediately after the massage, she reported pain and cyanosis in her right-hand fingers and was referred to our hospital. Duplex ultrasonography revealed a large number of thrombi in the brachial, radial and ulnar arteries. AULI due to brachial artery thrombosis was diagnosed and surgical intervention was performed on the same day. The vascular wall of the forearm artery was incised vertically against the running vessel and thrombi around the bifurcation of the radial and ulnar arteries were removed. Angiography guided-surgical intervention was performed and improvement in blood flow was achieved. The patient was discharged on the second day after the operation. Conclusion: Surgical intervention has been reported as an effective treatment of AULI due to brachial artery thrombosis after massage of an occluded vascular access.

Kabuki syndrome is characterized by a variable degree of intellectual disability, characteristic facial features, and complications in various organs. Many variants have been identified in two causative genes, that is, lysine methyltransferase 2D (KMT2D) and lysine demethylase 6A (KDM6A). In this study, we present the results of genetic screening of 100 patients with a suspected diagnosis of Kabuki syndrome in our center from July 2010 to June 2018. We identified 76 variants (43 novel) in KMT2D and 4 variants (3 novel) in KDM6A as pathogenic or likely pathogenic. Rare variants included a deep splicing variant (c.14000-8C>G) confirmed by RNA sequencing and an 18% mosaicism level for a KMT2D mutation. We also characterized a case with a blended phenotype consisting of Kabuki syndrome, osteogenesis imperfecta, and 16p13.11 microdeletion. We summarized the clinical phenotypes of 44 patients including a patient who developed cervical cancer of unknown origin at 16 years of age. This study presents important details of patients with Kabuki syndrome including rare clinical cases and expands our genetic understanding of this syndrome, which will help clinicians and researchers better manage and understand patients with Kabuki syndrome they may encounter.

Apical dissection and control of the dorsal vascular complex (DVC) affects blood loss, positive surgical margins, and urinary control during robot-assisted laparoscopic radical prostatectomy. Soft coagulation is widely used for hemostasis. However, using soft coagulation to the DVC may affect the continence outcomes. In this study, we described technique and outcomes for division of the DVC after soft coagulation (DVC-SC) compared with delayed ligation of the DVC (D-DVC).Medical records of 170 patients who underwent robot-assisted laparoscopic radical prostatectomy from June 2016 to March 2020 were retrospectively reviewed. To reduce the selection bias, the two groups were matched in a 1:1 ratio on the basis of propensity scores. Perioperative data and results were compared in both groups.Patients undergoing DVC-SC experienced less estimated blood loss compared to patients undergoing D-DVC (median: 105.5 vs 225 ml, p = 0.017). Postoperative continence rates at 1 week, 1, 3, 6 months in DVC-SC group and D-DVC group were 32.5% versus 15%, 62.5% versus 32.5%, 85% versus 67.5%, 95% versus 90%, respectively. Continence was significantly better at 1 month with DVC-SC versus D-DVC (p = 0.013).Division of the DVC after soft coagulation technique did not affect continence after robot-assisted laparoscopic radical prostatectomy despite the thermal division and gave the surgeon good hemostasis with simple procedure.

Kabuki syndrome is characterized by a variable degree of intellectual disability, characteristic facial features, and complications in various organs. Many variants have been identified in two causative genes, that is, lysine methyltransferase 2D (KMT2D) and lysine demethylase 6A (KDM6A). In this study, we present the results of genetic screening of 100 patients with a suspected diagnosis of Kabuki syndrome in our center from July 2010 to June 2018. We identified 76 variants (43 novel) in KMT2D and 4 variants (3 novel) in KDM6A as pathogenic or likely pathogenic. Rare variants included a deep splicing variant (c.14000-8CG) confirmed by RNA sequencing and an 18% mosaicism level for a KMT2D mutation. We also characterized a case with a blended phenotype consisting of Kabuki syndrome, osteogenesis imperfecta, and 16p13.11 microdeletion. We summarized the clinical phenotypes of 44 patients including a patient who developed cervical cancer of unknown origin at 16 years of age. This study presents important details of patients with Kabuki syndrome including rare clinical cases and expands our genetic understanding of this syndrome, which will help clinicians and researchers better manage and understand patients with Kabuki syndrome they may encounter.

Amyloidosis is known as a group of diseases that causes various disorders because of deposition of amyloid protein in various organs. Amyloidosis occurring in the retroperitoneum is a rare disease. We report a 75-year-old male patient presented to our hospital because he was identified with a retroperitoneal mass incidentally by CT. Laparoscopic surgery was performed to resect the tumor. In the histopathological specimen, amyloid was found in the fibrous soft tissue by Congo red staining. This is the first report to document a primary solitary amyloidosis of the retroperitoneum without systemic amyloidosis, which was resected using the laparoscopic approach.

We report a 34-year-old Japanese female with the vascular type of Ehlers-Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint hypermobility, left lower extremity varicose veins, and chronic wrist, knee and ankle joint pain. She also had dizziness caused by autonomic dysfunction. Magnetic resonance angiography showed tortuous vertebral and basilar arteries, mild left carotid canal bulging, and right anterior tibial artery hypoplasia. Electron microscopic examinations of a skin biopsy revealed extremely dilated rough endoplasmic reticulum in dermal fibroblasts and wide variability of individual collagen fibril diameters. A molecular analysis using a conventional total RNA method and a high-resolution melting curve analysis using genomic DNA revealed a novel missense mutation within exon 48 of the COL3A1 gene, c.3428G>A, leading to p.Gly1143Glu.

Costello syndrome (CS) is a congenital disease that is characterized by a distinctive facial appearance, failure to thrive, mental retardation and cardiomyopathy. In 2005, we discovered that heterozygous germline mutations in HRAS caused CS. Several studies have shown that CS-associated HRAS mutations are clustered in codons 12 and 13, and mutations in other codons have also been identified. However, a comprehensive comparison of the substitutions identified in patients with CS has not been conducted. In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals. To examine functional differences among the identified mutations, we characterized a total of nine HRAS mutants, including seven distinct substitutions in codons 12 and 13, p.K117R and p.A146T. The p.A146T mutant demonstrated the weakest Raf-binding activity, and the p.K117R and p.A146T mutants had weaker effects on downstream c-Jun N-terminal kinase signaling than did codon 12 or 13 mutants. We demonstrated that these mutant HRAS proteins induced senescence when overexpressed in human fibroblasts. Oncogene-induced senescence is a cellular reaction that controls cell proliferation in response to oncogenic mutation and it has been considered one of the tumor suppression mechanisms in vivo. Our findings suggest that the HRAS mutations identified in CS are sufficient to cause oncogene-induced senescence and that cellular senescence might therefore contribute to the pathogenesis of CS.

Aim: It has been well described that large residual urine volumes (≥300 mL) affect renal function in advanced benign prostatic hyperplasia (BPH). However, it is not clear whether small residual urine volumes (

ウコンおよびハルウコンの根茎におけるクルクミンの蓄積経過を調査した．ウコンにおいてクルクミン含有率は種イモで最も高く，次に2次分岐根茎，1次分岐根茎，主根茎，3次分岐根茎であり，地上部および根にはほとんど含まれていなかった．ウコンおよびハルウコンを5月に植付けると，種イモの乾物重は7月にかけて減少し，1次分岐根茎重は9月から11月にかけて急激に増加した．特にハルウコンでは9月から10月の生育中期に，ウコンでは生育中期（2006年）または10月から11月の生育後期（2007年）に根茎生長が最も盛んであった．ウコンにおいて種イモのクルクミン含有率は乾物重の減少に伴い増加し，1次分岐根茎より高濃度となった．1次分岐根茎のクルクミン含有率は9月から10月の根茎形成直後に増加したが，10月から11月の根茎肥大期にほとんど増加しないかやや減少した．一方，ハルウコンのクルクミン含有率は種イモにおいて5月から11月まで緩やかに増加したが，1次分岐根茎において9月から10月の根茎形成直後に有意に減少した．このようなクルクミン含有率の減少の結果，成熟期のクルクミン含有量（含有率×乾物重）はウコンに比べハルウコンで有意に低くなった．株当たりのクルクミン含有量は根茎収量の増加に伴い増加し，クルクミン含有量の増加のためには根茎収量の増加が重要であることが示唆された．貯蔵期間中のクルクミン含有率はウコンおよびハルウコンともほとんど変化しなかった．

Two cases of 8p trisomy in one sibship are presented. The father was a balanced carrier of a translocation rcp (8;13) (p11; q34). Case 1 was a 2-year -old boy with multiple minor anomalies and severe mental retardation. Giemsa banding studies revealed that he was trisomic for the greater part of 8p (8p11 yields pter). When his mother became pregnant again, amniocentesis was carried out in the 17th week of gestation. The fetus (Case 2) was shown to have the same 8p trisomy as Case 1. The pregnancy was terminated in the 22nd week. An autopsy revealed no major anomalies. Clinical features of cases with 8 and 8p trisomy are reviewed briefly.

Pallister-Killian syndrome (PKS) is a disorder caused by a mosaic tetrasomy of chromosome 12p, which manifests with dysmorphism, intellectual disabilities, auditory disturbance, and epilepsy. Here, we describe the findings of brain magnetic resonance (MR) imaging in two patients with PKS. One patient, a 43-year-old man, showed multiple lesions with high signal intensity on T2-weighted image (WI) in the basal ganglia, and widespread T2 elongation in the periventricular white matter. The same signal change was also present in the pontine base. The other patient, a 37-year-old woman, showed T2-high lesions in the bilateral putamina and the parietal periventricular white matter. There was prominent atrophy of the cerebellum and brainstem in this latter case. Both cases showed cortical atrophy with frontal predominance, with accompanying dilatation of the lateral ventricles. Hypoplastic corpus callosum was also present in both cases. Cerebral atrophy with ventricular dilatation has been often described in PKS cases, but many of the MR findings in the present patients have never been reported. Such findings may appear with advancing age in PKS. Since 12p mosaicism is rarely detected in peripheral blood lymphocytes, examination of buccal mucosal cells with fluorescent in situ hybridization method is preferable for the diagnosis of PKS. Recognition of the characteristic features on cranial MR imaging, in addition to the characteristic facial appearance in adulthood, should prompt the correct diagnosis of adult PKS patients.

Higher thermal efficiency of the power plant has been always essential and indispensable in order to decrease the impact on the environments. In this regard, enhancement of the steam conditions is the most fundamental and effective measure to achieve the goal of higher thermal efficiency. Recent steam conditions in Japan range from 593 to 610 degree C owing to the technological development. There are many aspects and areas of technology for the realization of such steam conditions, for instance, material development, cooling design, steam path development, casing design, and so on. Not only the research and development but also the accumulation of operational results is of importance to achieve a breakthrough in turbine design. Since the reliability is another dominant factor for steam turbines, reflection of manufacturing experience and operational results should be taken into consideration. In this paper, recent development of steam turbines with high temperatures will be presented focusing on their design features, material selections, operational results, etc. Furthermore, this paper deals with continuous efforts targeting even higher steam conditions, which are promising for future development of steam turbine technology.Copyright © 2005 by ASME

北部ハイブッシュブルーベリーの暖地栽培技術の開発を目的として，シャシャンボの台木としての可能性を検討した．3年生実生のシャシャンボに‘バークレー’，‘ブルークロップ’および‘アーリーブルー’を接ぎ木したところ，活着率は85.7～100％であった．また，接ぎ木活着の品種間差異を調査するために，ブルーベリー41品種（ハイブッシュブルーベリーおよびラビットアイブルーベリー）をシャシャンボに接ぎ木したところ，すべての品種で接ぎ木が可能であった．接ぎ木部分の不親和症状は接ぎ木4年後でも観察されなかった．シャシャンボ台に接ぎ木した‘アーリーブルー’の新梢の第一次伸長量や果実重は自根株に比べ有意に高かった．しかしながら，新梢の第一次伸長は，ラビットアイブルーベリー台（‘ホームベル’，‘ティフブルー’）と比較してシャシャンボ台が劣っていた．果実の糖および有機酸分析を行った結果，含量および組成比に台木による大きな差異は認められなかった．以上の結果から，シャシャンボはブルーベリーと接ぎ木親和性があると推測され，南九州などの暖地において北部ハイブッシュブルーベリー栽培の台木として期待できると推測された．

The 1p36 deletion syndrome is a newly delineated multiple congenital anomalies/mental retardation syndrome characterized by mental retardation, growth delay, epilepsy, congenital heart defects, characteristic facial appearance, and precocious puberty. We analyzed 11 patients by fluorescence in situ hybridization (FISH) using commercially available bacterial artificial chromosome and P1-derived artificial chromosome genomic clones to define the chromosomal deletion responsible for the 1p36 deletion syndrome. Cytogenetic investigation revealed two cases with a terminal deletion of 1p36. Nine patients had an apparently normal karyotype with standard G-bands by trypsin using Giemsa (GTG), but FISH screening with the highly polymorphic genetic marker D1Z2, which is mapped to 1p36.3 and contains an unusual reiterated 40-bp variable number tandem repeat, revealed a submicroscopic deletion. All patients had severe to profound mental retardation. Based on the University of California Santa Cruz Genome Browser, we constructed a deletion map and analyzed the relationship between neurological findings and chromosomal deletions for the 11 cases. Six cases had intractable epilepsy and three had no seizures. The common deletion interval was about 1 million base pairs (Mbp) located between RP11-82D16 and RP4-785P20 (Rho guanine exchange factor (GEF) 16). The severity of clinical symptoms correlates with the size of the deletion. This is demonstrated by the 3 patients with at least 8Mbp deletions that display profound mental retardation and congenital heart defects. Although haploinsufficiency of the potassium channel beta-subunit (KCNAB2) is thought to be responsible for intractable seizures in the 1p36 deletion syndrome, this was not the case for 3 of the 11 patients in this study. Further investigation of the 1p36 region is necessary to allow identification of genes responsible for the 1p36 deletion syndrome.

門脈ガス血症を伴う急性上腸間膜動脈閉塞症を発症した維持透析患者の1救命例を経験したので報告する. 患者は58歳の男性. 51歳時に糖尿病性腎症のため血液透析導入となった. 平成13年1月9日夜より腹痛が出現し, 当日救急外来受診し入院した. 翌10日, 血液検査上, 炎症所見は著明でなかったが, 腹部CTで門脈内ガス像を認めたため開腹術を施行した. Treiz靱帯より約80cm, 肛門側から回腸末端部約5cm口側までの小腸に広範囲な壊死を認め, 急性上腸間膜動脈閉塞症と診断した. 切除腸管は約320cmであった. 術後短腸症候群による下痢が持続するため2月20日より完全非経口栄養 (total parenteral nutrition: 以下TPNと略す) を開始した. 4月23日には在宅高カロリー輸液と経腸栄養剤の経口摂取が可能となり退院した. 門脈ガス血症を伴う急性上腸間膜動脈閉塞症の予後は不良とされている. 門脈ガス血症を伴う場合には, 腸管が広範囲に壊死している可能性が高く直ちに開腹術を行う必要がある.

We present a boy and two girls with paternal uniparental disomy of chromosome 14q (patUPD14). One girl had a Robertsonian translocation, whereas two a normal karyotype. Based on the manifestations of these patients and four previously reported patients who all had translocated chromosome 14, The patUPD14 was thought to constitute a distinctive syndrome. The hallmarks included abdominal muscular defects, skeletal anomalies, and characteristic facies. The phenotype of patUPD14 was consistent with that of a previously reported mouse model, i.e., mouse embryos with paternal uniparental disomy of chromosome 12 that has a region orthologous to that of human chromosome 14. Dose effects of newly recognized imprinted genes on human chromosome 14q32, DLK1 and GTL2, could play an important role in the pathogenic mechanism of the distinctive malformation complex.

We constructed the standard growth (length/height and weight) curves for Japanese individuals with Prader-Willi syndrome (PWS). Crude height and weight data were collected from 153 males and 99 females with the syndrome, and the collected data were arranged by a mathematical method to construct the curves. Height growth patterns were quite different between PWS and normal children. Mean height of individuals with the syndrome by puberty is -2 SD for normal children, and it drops off far below -2 SD value after puberty. Final mean height is 141.2 +/- 4.8 cm for females (n = 13) and 147.7 +/- 7.7 cm for males (n = 17), showing 15.8 and 21.9 cm below the average height for normal Japanese girls and boys, respectively. Thus, the degree of shortness is more pronounced in male than in female patients. There was no difference in height between those with chromosome 15q deletion and those without. Mean weight at birth of girls (n = 88) and boys (n = 131) were 2.70 +/- 0.45 Kg and 2.62 +/- 0.47 Kg, respectively. These values were smaller than those for normal neonates (P < 0.05, t-test). The weight of PWS children was under the mean value for normal infants by age 2 years, but gradually increase above the mean values for normal children around ages 2-4 years. Overweight in both males and females becomes obvious during prepuberty. Growth patterns are not different between Japanese and Caucasian children with the syndrome. Short stature is more prominent in boys of both ethnic groups, whereas the degree of overweight appears much more severe in Caucasians.

Shwachman-Diamond syndrome is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and skeletal abnormalities. There is broad clinical variability; the extent of heterogeneity is unknown but comparisons within a large cohort of patients show no striking differences between patients of families with single or multiple affected offspring. Segregation analysis of a cohort of 69 families has suggested an autosomal recessive mode of inheritance. A single constitutional de novo chromosome rearrangement was reported in a Japanese patient involving a balanced translocation, t(6;12)(q16.2;q21.2), thereby suggesting possible loci for a genetic defect. Evenly spaced microsatellite markers spanning 26-32 cM intervals from D6S1056 to D6S304 and D12S375 to D12S346 were analyzed for linkage in members of 13 Shwachman-Diamond syndrome families with two or three affected children. Two-point lod scores were calculated for each marker under assumptions of recessive inheritance and complete penetrance. Negative lod scores indicated exclusion of both chromosome regions. Further, affected sibs were discordant for inheritance of chromosomes in most families based on constructed haplotypes. The cytogenetic abnormality is not associated with most cases of Shwachman-Diamond syndrome.

We report on a total of 4 individuals in 2 families with Kabuki make-up syndrome. In family 1, the proposita, a 2 4/12-year-old girl and her mother had typical Kabuki make-up syndrome. The proposita also had early breast development. In family 2, the proposita, a 6-month-old girl and her mother had typical Kabuki make-up syndrome. The proposita died at age 6 months. Analysis of 2 families indicates that the condition is an autosomal dominant inheritance with variable expressivity.

We report on a 6-year-old girl with SPONASTRIME dysplasia, characterized by short-limbed dwarfism, a relatively large head, midfacial hypoplasia, a saddle nose, moderate deformities of the vertebral bodies, striated metaphyses, and normal intelligence. She showed severe skeletal changes including marked delay of epiphyseal ossification, evident metaphyseal dysplasia, and osteopathia striata more pronounced than in most of the previously reported patients with this disorder. The patient we describe and a male patient reported by Camera et al. [1994: Pediatr Radiol 24:322–324] are likely to represent the severely-affected end of the clinical spectrum of the disorder. These findings thus rule out the X-linked mode of inheritance of the disorder proposed by Camera et al. [1994: Pediatr Radiol 24:322–324]. Alternatively, the two severely-affected patients may represent a variant form of the disorder. There is evidence that SPONASTRIME dysplasia is a genetically heterogeneous disorder. © 1996 Wiley-Liss, Inc.

Using data compiled from 216,707 births from the population-based Kanagawa Birth Defects Monitoring Program (KAMP), we conducted a case-control study to evaluate the effect of maternal smoking and/or drinking during pregnancy on the risk of infants' anal atresia in 1989-1994. The frequency of maternal smoking (including passive smoking) and/or maternal drinking during pregnancy among 84 infants with anal atresia was compared with 174 matched controls. The 84 anal atresias include 49 cases of isolated anal atresia and 35 cases of syndromal anal atresia. Our findings suggest that maternal drinking during early pregnancy is associated with an increased risk of isolated anal atresia (OR = 4.8, 95% CI 1.2 to 19.1, p0.05). A slightly increased trend was also observed in the association of maternal smoking during pregnancy with both in the pooled groups of anal atresia (OR = 1.4, 95% CI 0.5 to 3.6).

We report a 34-year-old Japanese female with the vascular type of Ehlers-Danlos syndrome. She had thin translucent skin, extensive bruising, toe joint hypermobility, left lower extremity varicose veins, and chronic wrist, knee and ankle joint pain. She also had dizziness caused by autonomic dysfunction. Magnetic resonance angiography showed tortuous vertebral and basilar arteries, mild left carotid canal bulging, and right anterior tibial artery hypoplasia. Electron microscopic examinations of a skin biopsy revealed extremely dilated rough endoplasmic reticulum in dermal fibroblasts and wide variability of individual collagen fibril diameters. A molecular analysis using a conventional total RNA method and a high-resolution melting curve analysis using genomic DNA revealed a novel missense mutation within exon 48 of the COL3A1 gene, c.3428GA, leading to p.Gly1143Glu.

Limb-body wall complex is a malformation of body and limbs with craniofacial defects. We describe here the epidemiology of this complex using the population-based registry data in the Kanagawa Birth Defects Monitoring Program during the period 1982-1991. Eleven infants (11/428,599 births) with the complex were ascertained in the study. The incidence and spectrum of the defects observed in our cases were similar to those of other studies. The parental ages in the study group were not significantly different from those in the general population. No teratogenic agents and factors were identified in the present study. Most cases were diagnosed prenatally.

A confocal laser scanning microscopic system was used to detect the storage of ganglioside GM2 in Tay-Sachs fibroblasts and amniocytes. The diagnosis of the disease was confirmed by counting immunoreactive cells or by digital imaging analysis. This novel system facilitates the prenatal diagnosis of GM2-gangliosidosis.

It has been well described that large residual urine volumes (≥300 mL) affect renal function in advanced benign prostatic hyperplasia (BPH). However, it is not clear whether small residual urine volumes (100 mL) are related to renal function. The present study was performed to examine the association between chronic kidney disease (CKD) and the post-void residual urine volume (PVR) in BPH patients.A cross-sectional study was performed in 160 consecutive BPH patients with PVR of less than 100 mL. We first determined the stage of CKD and compared the PVR in subjects with/without CKD. Next, we divided the subjects into three groups according to the extent of PVR (PVR12 mL, 12 mL ≤ PVR50 mL, 50 mL ≤ PVR100 mL) and compared the estimated glomerular filtration rate (eGFR) among these groups. Moreover, risk factors associated with CKD, including the presence of post-void residual urine, were explored by multiple logistic regression analysis.The PVR of the patients with CKD was significantly greater than that of the patients without CKD. The group with the normal PVR (group PVR12 mL) had a significantly higher eGFR compared with the other two groups. Multivariate analysis demonstrated that the presence of post-void residual urine (PVR ≥ 12 mL) was a significant and independent risk factor associated with the presence of CKD.In BPH patients, the PVR of the patients with CKD was significantly greater than that of the patients without CKD and the presence of post-void residual urine (PVR ≥ 12 mL) was independently associated with CKD, indicating a close association between CKD and small residual urine volumes.

The diagnosis of Duchenne muscular dystrophy (DMD) has been drastically improved by recent advances in DNA analysis. The Southern blot hybridization using the cDNA 8 probe and the restriction enzyme Hind III was conducted in a gravida and her family in blood samples. The diagnosis revealed partial gene deletions in both the gravida and the DMD-affected second child. The prenatal diagnosis was performed by studying the PCR (polymerase chain reaction) for target DNAs of exons 48 and 51 that correspond with cDNA 8 probe. In the affected child, the 506 bp band at exon 48 was detected but 388 bp at exon 51 was missing. On the other hand, both the 506 bp band at exon 48 and the 388 bp band at exon 51 were detected in the cultured amniotic cells. Thus, the fetus was determined to be not affected.

A female patient with unilateral gonadal dysgenesis was a mosaic for three cell lines, 45,X/46,X, + marI/46,X, + marII, including two different marker chromosomes. DNA analysis using 17 Y-specific DNA probes revealed that each marker consists of different segments of the Y chromosome.

We describe a girl with typical Rubinstein-Taybi syndrome with apparently balanced reciprocal translocation between chromosome 2 and 16. The patient has a condition characterized by mental retardation, typical facial manifestations, broad thumbs and first toes. Cytogenetic studies of the patient showed a reciprocal translocation without visible deletion, karyotype: 46,XX, t(2;16)(p13.3;p13.3). Her parents had normal chromosomes. These results suggest that the locus of the gene for the Rubinstein-Taybi syndrome may be situated at 2p13.3 or 16p13.3.

DNA deletion studies using 5 DNA markers localized at 15q11-q12 were performed in 14 Angelman syndrome (AS) patients (9 sporadic and 5 familial cases). A one-copy density for one or more of the 5 loci was detected in 8 (57.1%) of the 14 patients. A deletion of only the D15S11 locus was detected in one sporadic patient, that involving only the D15S10 in 3 familial patients (sibs in a family), that spanning 3 loci (D15S11, D15S10, D15S12) in one sporadic patient, and that spanning 4 loci (D15S9, D15S11, D15S10, D15S12) in the other 3 sporadic patients. The deletion common to our patients as well as to the reported patients may be confined to a segment between D15S11 and D15S10, if the 5 loci are ordered as cen-D15S18-(D15S9-D15S11-D15S10)-D15S12-qt er. This site overlaps but is more distal to the common deletion site in Prader-Willi syndrome (PWS) patients. In the family of the 3 sibs, both of the phenotypically normal mother and maternal grandfather also have deletions of the D15S10 locus. These results were consistent with the genomic imprinting hypothesis for the occurrence of AS, i.e., the lack of a maternally derived locus leads to AS, but may not support a model that AS is the alternative phenotype of PWS at the identical locus.

We report on two new patients who had unilateral microphthalmia and esophageal atresia. A similar association was previously described in six patients. The accumulation of the eight affected patients provides further support for recognizing this association as a distinct syndrome.

We present two patients with multiple characteristics that occur in Noonan phenotype and cavernous hemangioma of the brain. The first patient, who had been diagnosed radiographically as having a cavernous hemangioma in the left basal ganglia at age 15 years, developed massive intracerebral hemorrhage, resulting in sudden death at home at 19 years. The second patient, who was diagnosed radiographically as having a cavernous hemangioma in the left parietal lobe at age 17 years, is being followed carefully (the patient is currently 18 years old). A review disclosed four cases of structural cerebrovascular abnormalities with or without subsequent hemorrhage. Neither these four patients nor our two patients had any severe anomalies in the heart or large vessels, which are frequently seen in patients with Noonan syndrome. Cerebrovascular abnormalities might have a significant influence on the prognosis of patients with Noonan syndrome, especially those having no severe abnormalities in the heart or large vessels.

Six patients, including two sibs, with Angelman syndrome (AS; three females and three males, aged 11 to 18 years) were studied cytogenetically. Molecular analysis was also performed. Using high-resolution banding technique, we detected a microdeletion in the proximal region of chromosome 15q in four cases. The deleted segment was heterogenous between these patients, and the common deleted region appeared to be 15q11.2. Four patients with deleted 15q were all sporadic cases, whereas in the sib cases we could not detect a visible deletion in the long arm of chromosome 15. However, there was no clinical difference between sporadic cases and sib cases. Densitometric analysis of autoradiographic bands of Southern hybridization using two DNA segments, pML34 and pTD3-21, as probes demonstrated that two patients had only one copy for each of the probes. In the remaining four patients, including the sibs, two copies of each sequence were retained. The probes used here detect a molecular deletion in most Prader-Willi syndrome patients. Thus the segment causing AS is localized adjacent to the critical segment of Prader-Willi syndrome. There seemed to be heterogeneity for the molecular deletion within AS individuals.

It was recently shown that toll-like receptors (TLR) play a critical role in innate immunity. However, no study has been conducted on TLR expression in hemodialysis (HD) patients. The present study was undertaken to examine innate immunity and the roles played by endotoxins (ET) contained in dialysate in HD patients, by analysis of TLR expression and reactivity. TLR-2 and TLR-4 expression on monocytes was investigated by flow cytometry in the following groups of subjects: healthy controls, patients on HD, patients with end-stage renal disease (ESRD) and patients on peritoneal dialysis (PD). The expression of TLRs on monocytes under stimulation with lipopolysaccharide was also investigated. Expression of TLR-4 was lower in the HD group than in the healthy controls (p

Trisomy 18 is a common chromosome anomaly. The predominance of female infants is widely accepted in the literature. This study clarified no sex differences in 18 trisomy births.

Kabuki make-up syndrome is a mental retardation—malformation syndrome affecting multiple organ systems, with a broad spectrum of neuromuscular dysfunction and mental ability. The incidence of seizures associated with this syndrome ranges from 10 to 40%. However, details of the seizures in this syndrome have not been adequately reported or thoroughly evaluated. In this study, we analyzed seizure characteristics and clinical outcomes in nine patients with Kabuki make-up syndrome. Four patients had generalized seizures and two patients had complex partial seizures, extended to secondary generalized seizures. West's syndrome, complex partial seizure, and atonic seizure were seen in one case each, respectively. Electroencephalograms showed focal spikes in seven cases, diffuse spike and wave burst in one case, and hypsarrhythmia in one case. Seizures were well controlled in eight cases and incompletely controlled in only one case. Together with mental retardation, epilepsy can be a primary feature of Kabuki make-up syndrome. Epilepsy associated with Kabuki make-up syndrome is mainly localization-related epilepsy with a favorable seizure outcome. ( J Child Neurol 2003;18:549—551).

In the two cases we report here, tumors were diagnosed as nephrogenic adenoma by pathohistological examination. Case 1 was a 72-year-old female presenting with a bladder tumor 8 months after receiving ureteral tumor surgery. Transurethral resection of bladder tumor (TUR-Bt) was performed. Case 2 was a 57-year-old female who had received intravesical bacillus Calmette-Guérin (BCG) treatment 6 times after her fifth TUR-Bt. Two tumors were found by cystoscopy, and TUR-Bt was performed. There have been 39 cases of nephrogenic adenoma of the bladder reported in Japan; 21 were male and 18 female with a mean age of 56.5 years. The main complaint was hematuria, which was seen in 16 cases followed by pollakisuria in 6 cases. Nephrogenic adenoma occurred after surgery of the urinary tract in 16 cases, followed by urinary tract infection in 9 cases and intravesical BCG treatment in 6 cases. The ratio of cases occurring after intravesical BCG treatment has increased since BCG approval for bladder carcinoma treatment in December 1996 in Japan, and an increase in the number of cases is expected in the future.

We describe a de novo balanced reciprocal translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in a 15-month-old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:291-293]) as one of translocation breakpoints in the present patient. We suggest that the gene responsible for Sotos syndrome is located to a distal long-arm region of chromosome 5.

We report on a four-month-old girl with a de novo trisomy 16q [47,XX,+del(16)(p11.2).ish del(16)(p11.2)(wcp16+,D16Z2+,tel16q+, tel16p−)]. She had minor facial anomalies, limb anomalies, urogenital abnormalities, and severe cardiovascular defects. Autopsy confirmed left hypoplastic lung, total anomalous pulmonary venous drainage via coronary sinus, persistent left superior vena cava, patent ductus arteriosus, secundum atrial septal defect, bilateral hydronephrosis and hydroureters, uterus bicornis, and ovarian hypoplasia. Short tandem repeat polymorphism analysis indicated that the additional, structurally abnormal chromosome 16 was maternal in origin. Am. J. Med. Genet. 92:308–310, 2000. © 2000 Wiley-Liss, Inc.

We report a Japanese girl with brachycephaly, a wide forehead, hypertelorism, macroblepharon with eyelid colobomas, ectropion, a broad nasal root, a depressed nasal tip, macrostomia, a small and grooved chin, ear anomalies, a structural anomaly of the corpus callosum, dilatation of the fourth ventricle, a urogenital sinus, and mental retardation. Cause and inheritance are unknown.

Apple peel intestinal atresia is an apple-peel-appearing bowel obstruction of unknown cause. We describe a Japanese girl with the apple-peel jejunal atresia associated with apparently balanced reciprocal translocation between chromosomes 2 and 3, t(2;3)(q31. 3;p24.2)mat. The translocation breakpoints in the patient may become candidate regions for the putative gene causing apple-peel atresia. Alternatively, the association of the two abnormalities in the patient is coincidental because her phenotypically normal mother had the same chromosome translocation.

Young-Simpson syndrome is a rare congenital disorder, characterized by congenital hypothyroidism, congenital heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation. We describe the cases of a 5-year-old boy and a 7-year-old girl with a similar constellation of symptoms and compared them with previously reported patients.

We describe a male patient with holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism. This rare association has previously been reported in two patients. We present a third case and propose a new association representing a distinguishable entity.

The N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene, which is responsible for autosomal recessive mucopolysaccharidosis IVA (MPSIVA), has been assigned to the long arm of chromosome 16, subregion 24.3, an area where the adenine phosophoribosyltransferase (APRT) gene and renal dipeptidase (DPEP I) gene are also localized. Molecular genetic studies on a severely affected patient with MPSIVA (Morquio disease), without karyotypic abnormality, revealed a partial submicroscopic deletion of 16q24.3 and a single point mutation on the other allele, with no functional GALNS activity. The patient, his mother, and siblings were hemizygous for GALNS and APRT loci, evidenced by informative RFLP and gene dosage analyses combined with a fluorescence in situ hybridization, utilizing a partial genomic clone of GALNS, but heterozygosity was retained at the DPEP I locus and proximal D16S7. Haplotyping of the family members revealed recombinational events between DPEP I locus and three other polymorphic loci on the paternal chromosome, localizing GALNS gene on the proximal side to DPEP I gene. As estimated from the genetic distance between two flanking markers of proximal D16S7 and distal DPEP I locus, size of the deletion was less than 3Mb. Mother of the boy and two older siblings were asymptomatic, despite this interstitial deletion of the Giemsa-light G band. The remaining paternal allele had no gene rearrangement but GALNS activity was not encoded as Arginine at 386 was replaced with Cysteine (R386C), suggesting this alteration accounts for the severe phenotype. Allelic loss of APRT is frequently observed in cancer tissues, thereby suggesting that the tumor suppressor gene locates near the APRT locus. No family member has evidence of any malignant disease. This study is apparently the first documentation of interstitial deletion of 16q24.3, involving GALNS and APRT genes.

We report on a 3-month-old girl with Miller-Dieker syndrome resulting from a maternal full-cryptic translocation t(10;17)(q26.3;p13.3) detectable only by using fluorescence in situ hybridization (FISH). Parental studies using FISH are crucial for genetic counselling in cases of Miller-Dieker syndrome with submicroscopic deletion at 17p13.3. In a family with a parental cryptic translocation and high recurrence risk, prenatal diagnosis using FISH is feasible. © 1995 Wiley-Liss, Inc.

We describe a further patient with the Coffin-Siris syndrome who presented at 4 months with recurrent hypoglycemia attacks. Detailed examination was undertaken at 7 months but the cause of hypoglycemia was not detected. Hypoglycemia seems to be a previously undescribed finding in the Coffin-Siris syndrome.

A novel missense mutation (1565G--A) was identified in the cDNA and genomic DNA coding for the beta-hexosaminidase beta-subunit of a Japanese patient with infantile Sandhoff disease. The patient was homozygous for this mutation, which should result in a cysteine-to-tyrosine substitution at codon 522. Computer-assisted analysis of this amino acid substitution predicted alteration in the secondary structure in the region of a highly conserved sequence. An immunofluorescence study revealed the accumulation of GM2 ganglioside in cultured fibroblasts from the patient with this mutation.

We report on a boy with Rieger syndrome, who had an apparently balanced reciprocal translocation between chromosomes 1 and 4. The clinical manifestations of this patient were characterized by irregular shaped pupils with a prominent Schwalbe line and an umbilical hernia. On cytogenetic studies, he was found to have a de novo reciprocal translocation 46,XY,t(1;4) (q23.1;q25), without visible deletion. His parents had normal chromosomes. A review of both cytogenetic and genetic linkage analyses with Rieger syndrome showed that chromosome 4q was involved. This and other previous reports suggested that the gene for Rieger syndrome is mapped to the 4q25-->4q26 segment adjoining the breakpoint.