Search

Byline: K. Hatakeyama (), S Fuse (), H Tomita (), S Chiba () Abstract: Jarcho--Levin syndrome is characterized by 'crab-like' rib cage deformity and multiple vertebral anomalies that cause respiratory failure. Reports of complex congenital heart defects with this syndrome are rare. We describe a female infant with this syndrome and a complex congenital heart defect and review the literature. Congenital heart defects are occasionally complicated by Jarcho--Levin syndrome. Heart defects involving heterotaxic morphology should be included as one of the important clinical features of this syndrome. Author Affiliation: () Department of Pediatrics, Sapporo Medical University School of Medicine, S-1 W-16, Chuo-ku, Sapporo 060-8543, Japan, JP () National Cardiovascular Center, 5-7-1, Suita, Osaka 565-8565, Japan, JP

Metal free dehydrogenation of various substituted tetrahydroisoquinolines via a simple and convenient metal free, atom economical route for the synthesis of corresponding isoquinolines under oxygen atmosphere in N-methyl-2-pyrollidone (NMP) is described. Metal free dehydrogenation was carried out without the use of additive or base. A scope of the methodology was demonstrated for a number of aryl and heteroaryl substitutions present at C1 position and ester moiety at C3 position and was found to be good substrates. Substituted isoquinolines (3a-3h) and their esters (3i-3m) were synthesized in very good to excellent yields. Key words: tetrahydroisoquinoline, metal free dehydrogenation, N-methyl pyrrolidone, clean oxidant. Nous decrivons la deshydrogenation sans metaux de differentes tetrahydro-isoquinolines substitutes par une voie simple et pratique, sans metaux et economique en atomes pour la synthese des isoquinolines correspondantes sous atmosphere d'oxygene dans la N-methyl-2-pyrrolidone (NMP). Cette deshydrogenation sans metaux procede sans additif ni base. Nous avons demontre la portee de la methodologie pour un certain nombre de substituants aryle et heteroaryle en position C1 et ester en position C3, et nous avons constate qu'ils etaient de bons substrats. Nous avons synthetise les isoquinolines substituees (3a-3h) et leurs esters (3i-3m) dans des rendements allant de tres bons a excellents. [Traduit par la Redaction] Mots-cles: tetrahydro-isoquinoline, deshydrogenation sans metaux, N-methylpyrrolidone, oxydant proper., Introduction Isoquinoline is considered to be an important skeleton because it is present in several natural alkaloids and was isolated from number of natural resources. (1) Natural isoquinoline alkaloids and [...]

Author(s): Nur Jannah AG [sup.1] [sup.2] , Nur Asma S [sup.2] [sup.3] , Mohamed Ashraf MD [sup.2] [sup.4] , Nur Asyilla CJ [sup.2] [sup.5] , Taib F [sup.1] [sup.2] , [...]

WT1 mutations have been described in a variety of syndromes, including Denys-Drash syndrome (DDS), which is characterized by predisposition to Wilms' tumor, genital abnormalities and development of early nephropathy. The most frequent WT1 defects in DDS are missense mutations located in exons 8-9. Our aim is to report a novel WT1 mutation in a 46,XY patient with a DDS variant, who presented a mild nephropathy with a late onset diagnosed during adolescence. He had ambiguous genitalia at birth. At 4 months of age he underwent nephrectomy (Wilms' tumor) followed by chemotherapy. Ambiguous genitalia were corrected and bilateral gonadectomy was performed. Sequencing of WT1 identified a novel heterozygous mutation (c.742A>T) in exon 4 that generates a premature stop codon (p.K248X). Interestingly, this patient has an unusual DDS nephropathy progression, which reinforces that patients carrying WT1 mutations should have the renal function carefully monitored due to the possibility of late-onset nephropathy. Keywords Denys-Drash syndrome * WT1 gene * Wilms' tumor * proteinuria, Introduction The Wilms' tumor (WT) suppressor gene 1 (WT1)is essential to the normal development and function of the urogenital tract. The spectrum of WT1-associated disorders is particularly complex. WAGR syndrome [...]

Abstract The WT1 gene encodes a zinc finger transcription factor involved in kidney and gonadal development and, when mutated, in the occurrence of kidney tumor and glomerular diseases. Patients with [...]

Adrenal corticosteroids (cortisol in humans or corticosterone in rodents) exert numerous effects in the central nervous system that regulate the stress response, mood, learning and memory, and various neuroendocrine functions. [...]

The distribution of stellar masses that form in one star formation event in a given volume of space is called the initial mass function (IMF), The IMF has been estimated from low-mass brown dwarfs to very massive stars. Combining IMF estimates for different populations in which the stars can be observed individually unveils an extraordinary uniformity of the IMF. This general insight appears to hold for populations including present-day star formation in small molecular clouds, rich and dense massive star-clusters forming in giant clouds, through to ancient and metal-poor exotic stellar populations that may be dominated by dark matter. This apparent universality of the IMF is a challenge for star formation theory, because elementary considerations suggest that the IMF ought to systematically vary with star-forming conditions., The physics of star formation determines the conversion of gas to stars. The outcome of star formation are stars with a range of masses. Astrophysicists refer to the distribution of [...]

KEY WORDS: high pressure, microbial ecology, growth physiology, membranes, PTk diagram CONTENTS INTRODUCTION DEEP-SEA HABITATS METHODS OF SAMPLING FOR MICROBIOLOGY HIGH PRESSURE LABORATORY TECHNIQUES Pressure Vessels Colony Formation at High [...]

INTRODUCTION Microbial growth on halogenated substrates requires the production of catabolic enzymes that cleave carbon-halogen bonds. Such enzymes are commonly called dehalogenases. The substrate range of dehalogenases determines to a [...]

Byline: Giuseppe. Mucciardi, Alessandro. Gali', Valeria. Barresi, Massimo. Mucciardi, M'Hammemd. Aguennouz, Antonino. Inferrera, Carlo. Magno Introduction: Shortening of telomere is associated with cellular senescence and cancer. This study aims to [...]

Byline: Ashok. Agarwal, Lucky. Sekhon Oxidative stress contributes to defective spermatogenesis and the poor quality of sperm associated with idiopathic male factor infertility. The aim of this study was to [...]

Byline: Michael. Eisenberg, Larry. Lipshultz The association between varicoceles and male infertility has been known since the 1950s; however, the pathophysiology of the process remains uncertain. The primary proposed hypotheses [...]

* We report a case of ectopic prostate tissue with an associated prostatic adenocarcinoma occurring in the dome of the urinary bladder. A 62-year-old man presented with a 4-month history of persistent microscopic hematuria following a urinary tract infection. Other complaints included frequent urination, but there was neither dysuria nor gross hematuria. Digital rectal examination revealed a smooth prostate of normal size. Cystoscopic examination revealed a sessile lesion of the anterior bladder neck and multiple smaller papillary lesions throughout the bladder. Following a transurethral resection of the bladder tumor with a diagnosis of muscle-invasive transitional cell carcinoma grade 3, a radical cystoprostatectomy was performed. The diagnosis of transitional cell carcinoma was confirmed, but in addition, a different lesion was also incidentally found in the dome of the bladder. This incidental lesion showed a prostatic adenocarcinoma arising from ectopic prostatic tissue within the bladder submucosa. The prostate also showed prostatic adenocarcinoma, but this was minimal, low grade, and confined to the prostate gland, and thus it was felt to be unlikely to have metastasized to the bladder dome. Adenocarcinoma arising in ectopic prostatic tissue is a rare finding and to our knowledge only 1 case has been previously described, occurring in the soft tissue adjacent to the prostate. We report the first case of adenocarcinoma arising in ectopic prostatic tissue within the bladder. (Arch Pathol Lab Med. 2010;134:1271-1275), In pathology, as well as the rest of science, it is often the unexpected findings that are the most interesting and the most confusing. Ectopic prostatic tissue (EPT) is not [...]

Byline: Rajeev. Das, Arun. Jain, V. Ramesh Psoriasis is a multi-factorial skin disease with a complex pathogenesis. Various factors which have been suggested to play a key role in the [...]

* Context.--Recent reports indicate the rate of primary testicular lymphomas is on the rise and misdiagnosis can still occur. Objective.--To review and investigate the clinicopathologic features of primary testicular lymphoma with emphasis on the differential diagnosis. Discussion about the issue of misdiagnosis is also presented. Design.--Retrospective review of pathology archives in 3 medical centers for cases fulfilling criteria of primary testicular lymphoma or paratesticular lymphoma was carried out. Clinicopathologic and immunohistochemical features were studied and analyzed. Results.--The search identified 34 cases. Patients ranged from 4 to 87 years of age (mean, 55 years). All presented with a testicular/paratesticular mass and were stage I. The masses ranged from 2.5 to 13 cm (mean, 5.6 cm). Microscopically, the tumors often had an intertubular growth pattern or diffuse arrangement of predominantly large cells with pleomorphic, twisted nuclei and small nucleoli. Mitotic activity was brisk and apoptotic bodies were abundant. Thirty-two tumors were classified as diffuse large cell lymphomas; immunophenotype was determined in 21 of these and all were of B-cell type. The median survival was 96 months. The rate of initial misdiagnosis was unexpectedly high (5 cases, 15%). Conclusions.--Most cases of primary testicular lymphoma fall into the broad category of diffuse large cell lymphoma and the majority are B-cell type with particularly high proliferative activity when characterized by appropriate immunophenotyping. Misdiagnosis can occur, especially in those cases in which presentation occurs at an age similar to that for germ cell tumors, showing the need for caution and appropriate immunostaining when a testicular neoplasm has an atypical appearance for a germ cell tumor. (Arch Pathol Lab Med. 2007;131:1040-1046), Before the era of human immunodeficiency virus (HIV) infections, primary testicular lymphomas (PTLs) were estimated to comprise 3% to 5% of all testicular tumors, with a tendency to occur in [...]

Byline: Iqbal. Singh Aims: Hemospermia is an infrequently discussed urological problem. Most health care providers including general surgeons and physicians are unfamiliar with this disorder, its etiology & management. We [...]