WorldWideScience

Sample records for cell nevus syndrome

  1. Basal cell nevus syndrome or Gorlin syndrome.

    Science.gov (United States)

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial.

  2. Radiologic study of basal cell nevus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Park, Tae Won [Dept. of Oral Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

    1988-11-15

    Several cases of jaw cyst-basal cell nevus-bifid rib syndrome are presented. This syndrome consists principally of multiple jaw cysts, basal cell nevi, and bifid ribs but no one component is present in all patients. The purpose of this paper is to review the multiple characteristics of this syndrome and present three cases in a family and additional 4 cases. The many malformations associated with the syndrome have variable expressively. In the cases, multiple jaw cysts, pal mar and plantar pittings, bridging of sella, temporoparietal bossing, hypertelorism, cleft palate, and dystopia canthoru m have been observed.

  3. Basal Cell Nevus Syndrome. A Case Presentation

    Directory of Open Access Journals (Sweden)

    Ángel Luis Cruz Leiva

    2007-12-01

    Full Text Available Basal Cell Nevus Syndrome is an infrequent entity of very low incidence according to reports in medical literature. It is characterized by considerable groups of alterations which are presented in the organism in a variable way, and with localized lesions in the maxillofacial area. A 61 year-old white male patient who lives in the urban area of Cienfuegos city is presented. He has family references of numerous physical deformities since he was born such as mental retardation, presence of moles since the first decade of his life and augmentation of the mandibular body volume. The diagnosis was keratocysts based on the clinical and radiological examinations as well as histopathological studies.

  4. Multiple jaw cysts not associated with basal cell nevus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Suk Ja; Kang, Byung Cheol [Chonnam National University College of Medicine, Kwangju (Korea, Republic of)

    2003-09-15

    We present two cases of multiple jaw cysts not associated with basal cell nevus syndrome. Case 1 : a nine year-old boy visited CNU Hospital for orthodontic treatment and his radiographs showed cystic lesions surrounding the crowns of teeth 13 and 17 respectively, which were diagnosed as dentigerous cysts. Subsequently, two more cysts were found on his follow-up radiographs in 12 and 15 months. The two cysts were determined to be odontogenic keratocysts. The boy had no skeletal abnormalities and no skin lesions associated with basal cell nevus syndrome. Case 2: a fifty-eight year old man had three impacted third molars with pericoronal radiolucencies, which were diagnosed as dentigerous cysts. He had no additional abnormalities associated with basal cell nevus syndrome. Multiple jaw cysts can occur at any age, and periodic radiographic surveillance may be needed for any cases of impacted tooth.

  5. Jaw cyst-Basal cell nevus-Bifid rib syndrome: a case report.

    Science.gov (United States)

    Rai, S; Gauba, K

    2007-01-01

    Jaw cyst-Basal cell nevus-Bifid rib syndrome or Gorlin-Goltz syndrome involves multiple organ system. The most common findings include multiple odontogenic keratocysts in the jaws and basal cell nevus on the skin that have an early age onset. These multiple odontogenic keratocysts warrant aggressive treatment at the earliest because of the damage and possible complications associated with them. Recurrence in these lesions is the most characteristic feature that has to be taken in consideration while explaining the prognosis to the patient. A case report of a child affected with Gorlin-Goltz syndrome diagnosed, treated and followed at this hospital is presented here.

  6. Jaw cyst-Basal cell nevus-Bifid rib syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Rai S

    2007-09-01

    Full Text Available Jaw cyst-Basal cell nevus-Bifid rib syndrome or Gorlin-Goltz syndrome involves multiple organ system. The most common findings include multiple odontogenic keratocysts in the jaws and basal cell nevus on the skin that have an early age onset. These multiple odontogenic keratocysts warrant aggressive treatment at the earliest because of the damage and possible complications associated with them. Recurrence in these lesions is the most characteristic feature that has to be taken in consideration while explaining the prognosis to the patient. A case report of a child affected with Gorlin-Goltz syndrome diagnosed, treated and followed at this hospital is presented here.

  7. Epidermal nevus syndromes.

    Science.gov (United States)

    Asch, Sarah; Sugarman, Jeffrey L

    2015-01-01

    The term epidermal nevus syndrome (ENS) has been used to describe the association of epidermal hamartomas and extracutaneous abnormalities. Although many continue to use the term "ENS," it is now understood that this is not one disease, but rather a heterogeneous group with distinct genetic profiles defined by a common cutaneous phenotype: the presence of epidermal and adnexal hamartomas that are associated with other organ system involvement. One commonality is that epidermal nevi often follow the lines of Blaschko and it appears the more widespread the cutaneous manifestations, the greater the risk for extracutaneous manifestations. The majority of the extracutaneous manifestations involve the brain, eye, and skeletal systems. The CNS involvement is wide ranging and involves both clinical manifestations such as intellectual disability and seizures, as well as structural anomalies. Several subsets of ENS with characteristic features have been delineated including the nevus sebaceus syndrome, Proteus syndrome, CHILD syndrome, Becker's nevus syndrome, nevus comedonicus syndrome, and phakomatosis pigmentokeratotica. Advances in molecular biology have revealed that the manifestations of ENS are due to genomic mosaicism. It is likely that the varied clinical manifestations of ENS are due in great part to the functional effects of specific genetic defects. Optimal management of the patient with ENS involves an interdisciplinary approach given the potential for multisystem involvement. Of note, epidermal nevi have been associated with both benign and malignant neoplasms, and thus ongoing clinical follow-up is required.

  8. Epidermal nevus syndrome.

    Science.gov (United States)

    Laura, Flores-Sarnat

    2013-01-01

    Epidermal nevus syndrome (ENS) is an inclusive term for a heterogeneous group of congenital disorders characterized by the presence of epidermal nevi associated with systemic involvement. These disorders, as are all primary neurocutaneous syndromes, are neurocristopathies. The epidermal nevi that follow the lines of Blaschko and most systemic anomalies in skeletal, ocular, cardiovascular, endocrine, and orodental tissues, as well as lipomas, are due to defective neural crest. The most important and frequent anomaly in the brain in all forms of epidermal nevus syndromes (ENSs) is hemimegalencephaly (HME). This malformation often is not recognized, despite being the principal cause of neurological manifestations in ENSs. They consist mainly of epilepsy and developmental delay or intellectual disability. The onset of epilepsy in ENS usually is in early infancy, often as infantile spasms. Several syndromic forms have been delineated. I propose the term "Heide's syndrome" for those distinctive cases with the typical triad of hemifacial epidermal nevus, ipsilateral facial lipoma, and hemimegalencephaly. Most ENSs are sporadic. The mechanism is thought to be genetic mosaicism with a lethal autosomal dominant gene. Specific genetic mutations (PTEN, FGFR3, PIK3CA, and AKT1) have been documented in some patients. The large number of contributors for over more than a century and a half to the description of these disorders precludes the use of new author eponyms.

  9. Becker′s nevus syndrome

    Directory of Open Access Journals (Sweden)

    Sathyanarayana B Dasegowda

    2014-01-01

    Full Text Available Becker′s nevus is a cutaneous hamartoma characterized by circumscribed hyperpigmentation with hypertrichosis. Becker′s nevus syndrome is an association of Becker′s nevus with unilateral breast hypoplasia and muscle, skin, and/or skeletal abnormalities. We here report a case of a 15 year-old female who presented with bilateral Becker′s nevus over her groins, thighs, vulva, and in front of the neck from the age of 5 years. She had associated mental retardation, delayed development of mile stones, delayed puberty, dwarfism, depressed nasal bridge, long slender digits, crowding of lateral toes, valgus deformity of first metatarsophalangeal joint, mitral valve prolapse, muddy conjunctiva with hypertrophic and hyperpigmented caruncle of both eyes, ichthyosis, brownish hair, and absence of axillary and pubic hair. On histopathological examination collagen hamartoma underneath the Becker′s nevus was found.

  10. Fatal Metastatic Cutaneous Squamous Cell Carcinoma Evolving from a Localized Verrucous Epidermal Nevus

    Directory of Open Access Journals (Sweden)

    Hassan Riad

    2013-10-01

    Full Text Available A malignant transformation is known to occur in many nevi such as a sebaceous nevus or a basal cell nevus, but a verrucous epidermal nevus has only rarely been associated with neoplastic changes. Keratoacanthoma, multifocal papillary apocrine adenoma, multiple malignant eccrine poroma, basal cell carcinoma and cutaneous squamous cell carcinoma (CSCC have all been reported to develop from a verrucous epidermal nevus. CSCC has also been reported to arise from other nevoid lesions like a nevus comedonicus, porokeratosis, a sebaceous nevus, an oral sponge nevus and an ichthyosiform nevus with CHILD syndrome. Here we report a case of progressive poorly differentiated CSCC arising from a localized verrucous epidermal nevus, which caused both spinal cord and brain metastasis.

  11. Do you know this syndrome? Becker nevus syndrome.

    Science.gov (United States)

    Steiner, Denise; Silva, Fernanda Ayres de Morais e; Pessanha, André César Antiori Freire; Bialeski, Nediana; Feola, Camila; Buzzoni, Carla Arantes Bertolucci

    2011-01-01

    Becker nevus syndrome is the association of Becker's nevus with breast hypoplasia and other ipsilateral bone or muscle changes. It is considered to be a hormone-dependent disorder caused by a disturbance in the activity of the androgen receptor that appears to be increased in Becker's nevus, which may influence the development of associated lesions. We present a relevant case of this syndrome due to the rare systematization of the lesions in addition to the exuberant extracutaneous involvement in this case.

  12. A case of sebaceous nevus sindrome (Schimmelpen-ning-Feuerstein-Mims syndrome).

    Science.gov (United States)

    Rubegni, P; Poggiali, S; Sbano, P; Nami, N; Hayek, J; Motolese, P A; Fimiani, M

    2009-10-01

    The sebaceous nevus syndrome (SNS) is characterized by the presence of a sebaceous nevus and extracutaneous abnormalities, usually involving organs derived from the neuroectoderm. The authors report the case of a 22 year-old patient with a systematized sebaceous nevus on the forehead and scalp and a history of developmental delay and severe seizure disorders. The father of the patient also indicated prior surgery to correct an ocular coloboma and prior removal of a squamous cell epithelioma of the tongue. Firstly described by Gustav Schimmelpenning in 1957, SNS, also known as 'Schimmelpenning-Feuerstein-Mims syndrome', is one of the six different types of epidermal nevus syndromes. In patients with SNS the risk of developing neoplasms is higher than that of the general population. The particularity of our case lies in the late diagnosis. The authors believe that early diagnosis and awareness of the potential presence of neoplasms are important for those involved in the care of patients with SNS.

  13. Basal Cell Nevus Syndrome. A Case Presentation Síndrome de Gorlin. Presentación de caso.

    Directory of Open Access Journals (Sweden)

    Orlando Sotolongo Terry

    2007-02-01

    Full Text Available

    Basal Cell Nevus Syndrome is an infrequent entity of very low incidence according to reports in medical literature. It is characterized by considerable groups of alterations which are presented in the organism in a variable way, and with localized lesions in the maxillofacial area. A 61 year-old white male patient who lives in the urban area of Cienfuegos city is presented. He has family references of numerous physical deformities since he was born such as mental retardation, presence of moles since the first decade of his life and augmentation of the mandibular body volume. The diagnosis was keratocysts based on the clinical and radiological examinations as well as histopathological studies.

    El síndrome de Gorlin es una entidad infrecuente, de muy baja incidencia según reportes de la literatura médica. Se caracteriza por un grupo considerable de alteraciones que se presentan de manera variable en el organismo y lesiones localizadas en la región maxilofacial. Se presentó el caso de un paciente de 61 años de edad, masculino, de raza blanca, procedente de la zona urbana de Cienfuegos, con la referencia familiar de numerosas deformidades físicas desde su nacimiento: retraso mental, presencia de lunares a partir de la primera década de la vida y aumento de volumen del cuerpo mandibular. El diagnóstico, apoyado en exámenes clínicos y radiológicos, así como en estudios histopatológicos, fue la presencia de queratoquistes.

  14. Squamous cell carcinoma arising in a multiple verrucous epidermal nevus*

    Science.gov (United States)

    Yarak, Samira; Machado, Taila Yuri Siqueira; Ogawa, Marilia Marufuji; Almeida, Mirian Luzia da Silva; Enokihara, Milvia Maria Simões e Silva; Porro, Adriana Maria

    2016-01-01

    Verrucous epidermal nevi are hamartomatous lesions of the epidermis that, unlike other epidermal nevi (such as sebaceous nevus or nevus comedonicus), are rarely associated with malignant neoplasms. The majority of squamous cell carcinoma develop in linear or multiple epidermal nevus and rarely in solitary epidermal nevus. In general, the prognosis is favorable. We report a case of well-differentiated invasive squamous cell carcinoma arising from a multiple verrucous epidermal nevus. Although there is no consensus on prophylactic removal of epidermal nevus, its removal and biopsy should be considered if changes occur. PMID:28300931

  15. Epidermal Nevus Syndrome Associated with Brain Malformations and Medulloblastoma

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-01-01

    Full Text Available Researchers at Juntendo University and Tokyo Women’s Medical University, Japan; and University of California, San Francisco, Ca, report a male infant with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.

  16. Histopathology in the iris-nevus (Cogan-Reese) syndrome.

    Science.gov (United States)

    Radius, R L; Herschler, J

    1980-06-01

    A 23-year-old-woman had iris-nevus (Cogan-Reese) syndrome characterized by unilateral glaucoma with peripheral anterior synechiae, multiple iris nodules, and ectopic Descemet's membrane. A surgical specimen excised from the involved eye was examined by light and electron microscopy. A cuticular membrane covered both the anterior and posterior surfaces of the iris in this specimen. On the anterior surface of the iris, many projections of apparently normal iris stroma pierced or were surrounded by this membrane. On the posterior surface of the iris, this membrane was associated with a monolayer of cuboidal cells.

  17. Becker’s Nevus Syndrome in a Pediatric Female Patient

    Directory of Open Access Journals (Sweden)

    Sara Hernandez-Quiceno

    2016-01-01

    Full Text Available Becker’s nevus syndrome is part of the epidermal nevus syndromes and has been described with a phenotype that includes Becker’s nevus, ipsilateral breast hypoplasia, and variable skeletal malformations. It is more frequent in males than in females (5 : 1 but is more relevant in females. The diagnosis is clinically based and the skin lesion must be present and no other numbered criteria have been established, but with more criteria being present the possibility of the diagnosis is higher. Regarding the treatment of breast hypoplasia, the use of antiandrogen medication has demonstrated adequate clinical response in a dose of 50 mg/day of spironolactone.

  18. Severe Blue Rubber Bleb Nevus Syndrome in a Neonate

    DEFF Research Database (Denmark)

    Hansen, L; Wewer, V; Pedersen, S

    2008-01-01

    We report on a child with blue rubber bleb nevus syndrome (BRBNS) presenting during the first days of life with severe bleeding from the upper gastrointestinal tract. Medical treatment with methylprednisolone, cyklokapron, interferon 1 alpha and numerous blood transfusions were given to control...

  19. AKT1 Activation is Obligatory for Spontaneous BCC Tumor Growth in a Murine Model that Mimics Some Features of Basal Cell Nevus Syndrome.

    Science.gov (United States)

    Kim, Arianna L; Back, Jung Ho; Zhu, Yucui; Tang, Xiuwei; Yardley, Nathan P; Kim, Katherine J; Athar, Mohammad; Bickers, David R

    2016-10-01

    Patients with basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, develop numerous basal cell carcinomas (BCC) due to germline mutations in the tumor suppressor PTCH1 and aberrant activation of Hedgehog (Hh) signaling. Therapies targeted at components of the Hh pathway, including the smoothened (SMO) inhibitor vismodegib, can ablate these tumors clinically, but tumors recur upon drug discontinuation. Using SKH1-Ptch1(+/-) as a model that closely mimics the spontaneous and accelerated growth pattern of BCCs in patients with BCNS, we show that AKT1, a serine/threonine protein kinase, is intrinsically activated in keratinocytes derived from the skin of newborn Ptch1(+/-) mice in the absence of carcinogenic stimuli. Introducing Akt1 haplodeficiency in Ptch1(+/-) mice (Akt1(+/-) Ptch1(+/-)) significantly abrogated BCC growth. Similarly, pharmacological inhibition of AKT with perifosine, an alkyl phospholipid AKT inhibitor, diminished the growth of spontaneous and UV-induced BCCs. Our data demonstrate an obligatory role for AKT1 in BCC growth, and targeting AKT may help reduce BCC tumor burden in BCNS patients. Cancer Prev Res; 9(10); 794-802. ©2016 AACR.

  20. Diagnostic dilemma: Sturge-Weber syndrome, without facial nevus

    Directory of Open Access Journals (Sweden)

    Paresh Zanzmera

    2015-01-01

    Full Text Available Sturge-Weber syndrome (SWS, a rare sporadic neurocutaneous disease, is characterized by a congenital unilateral port-wine nevus affecting the area innervated by V1, ipsilateral leptomeningeal angiomatosis, and calcification in the occipital or frontoparietal region and glaucoma/vascular eye abnormality. Three types of SWS have been described in literature: Type I (classic demonstrates facial and leptomeningeal angioma, often with glaucoma; type II has facial angioma and glaucoma, with no evidence of intracranial lesions; and type III (rarest presents with only leptomeningeal angioma. Only a few cases of type III SWS have been reported. Here, we report a case of a seven-year-old boy with focal complex partial seizure, who was diagnosed with SWS without facial nevus. Recognition of this type of SWS is important, as our patient had been misdiagnosed and received inappropriate antiepileptic drugs for six years. We suggest that in the appropriate clinical scenario, the diagnosis of SWS without facial nevus should be considered before labelling idiopathic or cryptogenic localization-related epilepsy, and gadolinium-enhanced magnetic resonance imaging (MRI should be done in clinically suspicious cases of SWS, without facial nevus.

  1. Blue rubber bleb nevus syndrome: a report of one case associated with recurrent epistaxis

    Institute of Scientific and Technical Information of China (English)

    LIU Qiong; CHEN Yi-peng; LI You-ming

    2007-01-01

    @@ Blue rubber bleb nevus syndrome (BRBNS), or Bean's syndrome, is a rare angiomatosis characterized by distinctive cutaneous and gastrointestinal venous malformations that usually cause massive or occult gastrointestinal hemorrhage and iron deficiency anemia secondary to the bleeding episodes.

  2. Síndrome do nevus organóide: relato de caso Organoid nevus syndrome: case report

    Directory of Open Access Journals (Sweden)

    Priscilla Luppi Ballalai

    2001-08-01

    Full Text Available Os autores apresentam um caso de uma criança com síndrome do nevus organóide, que se caracteriza pela presença de uma lesão epibulbar em olho direito, associada a nevus sebáceo de Jadassohn em couro cabeludo e cisto de aracnóide na fossa temporal. O exame anatomopatológico da lesão ocular revelou a presença de tecidos de origem ectodérmica e mesodérmica, levando ao raro diagnóstico de coristoma epibulbar complexo. A síndrome é raramente descrita na literatura oftalmológica. São feitas considerações a respeito das alterações oftalmológicas e sistêmicas associadas a esta síndrome.The authors present a case of a child with organoid nevus syndrome, characterized by epibulbar choristoma in the right eye, Jadassohn's nevus sebaceous in the scalp and arachnoid cist. The pathology of the ocular lesion revealed a mixture of ectodermal and mesodermal elements, leding to the rare diagnosis of epibulbar complex choristoma.The syndrome is rarely described in the ophthalmologic literature. Some considerations are made regarding ophthalmologic and systemic associations.

  3. Speckled lentiginous nevus syndrome with median nerve paresis: A rare syndrome with a new association

    Directory of Open Access Journals (Sweden)

    Vibhu Mendiratta

    2013-01-01

    Full Text Available Speckled lentiginous nevus (SLN represents a mosaic phenotype which consists of café au lait macule superimposed by melanocytic nevi. Recently, SLN syndrome has been characterized where ipsilateral neurological abnormalities have been reported in association with SLN with papular type of melanocytic nevi only. This case describes the presence of ipsilateral thenar muscle atrophy with median nerve paresis in nevus spilus which had melanocytic nevi of the macular type alone, thus delineating a new association in SLN syndrome, hitherto unreported.

  4. BLUE RUBBER BLEB NEVUS SYNDROME TREATED BY CHINESE HERBAL MEDICINE: A CASE REPORTAND REVIEW OF LITERATURE

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder characterized by multifocal venous malformations. The malformations are most prominent in the skin, soft tissues, gastrointestinal tract, and, less often, in other internal organs. A patient may have from several to hundreds of hemangiomas and treatment of BRBNS is mainly symptomatic. We report a unique case of BRBNS typically with skin hemangiomas, iron deficiency anemia and an episode of internal hemorrhage in such a patient, who was tr...

  5. Epidermal nevus syndrome associated with unusual neurological, ocular, and skeletal features

    Directory of Open Access Journals (Sweden)

    Reena Sharma

    2012-01-01

    Full Text Available Epidermal nevus syndrome (ENS is a rare disease, the pathogenesis of which is largely elusive. We, hereby, report an exclusive case of a 20-year-old man with verrucous ENS presented with dark colored papules and plaques along the Blaschko′s lines present over the head and neck area along with fleshy growth in both eyes since birth. Limb length discrepancy and kyphoscoliosis were remarkable. Skin biopsy was compatible with verrucous epidermal nevus while the biopsy of the ocular lesion confirmed complex choristoma. MRI brain revealed calcification in the right temporal lobe. Bilateral arachnoid cyst in the middle cranial fossa, scleral osteoma in the posterior part of the right eyeball, and deformed calvarium were evident on CECT skull and orbit. The present illustration emphasizes the importance of a punctilious work up of the case.

  6. Long-term safety, tolerability, and efficacy of vismodegib in two patients with metastatic basal cell carcinoma and basal cell nevus syndrome

    Directory of Open Access Journals (Sweden)

    Glen J. Weiss

    2011-12-01

    Full Text Available Tumor responses in advanced basal cell carcinoma (BCC have been observed in clinical trials with vismodegib, a SMO antagonist. The result of SMO antagonism is inhibition Hedgehog Signaling Pathway (HHSP downstream target genes. HHSP inhibition has been shown to affect stem cells responsible for blood, mammary, and neural development. We report on our experience of treating two patients with advanced BCC participating. These two patients have had no new BCCs develop for at least 2.25 years. Both patients have been receiving ongoing daily treatment with vismodegib for greater than 2.75 years without experiencing any significant side effects. After prolonged continuous daily dosing with a SMO antagonist, we have not observed a significant alteration in hematologic parameters or physical abnormalities of the pectoral regions of two patients with advanced BCC.

  7. Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Beluffi, Giampiero [Section of Paediatric Radiology, Department of Radiodiagnosis, IRCCS Policlinico S. Matteo, Piazzale Golgi, 2, 27100, Pavia PV (Italy); Romano, Piero; Matteotti, Chiara; Minniti, Silvio; Ceffa, Franco [Division of Paediatric Surgery, IRCCS Policlinico S. Matteo, Pavia (Italy); Morbini, Patrizia [Department of Pathology, IRCCS Policlinico S. Matteo, Pavia (Italy)

    2004-09-01

    Jejunal intussusception in a Chinese 10-year-old boy affected by the blue rubber bleb nevus syndrome is presented and discussed. The syndrome is rare, sporadically found with possible dominant inheritance, and due to a gene mutation mapped on the short arm of chromosome 9. It presents with distinctive cutaneous and gastrointestinal malformations together with possible other organ involvement. Gastrointestinal malformations tend to bleed and lead to anaemia. Infrequent complications of the gastrointestinal malformations are volvulus, intestinal infarction and intussusception. The age of the patient and the jejunal intussusception precipitated by a vascular malformation containing calcifications (which were also found in different gut segments) make this case remarkable. (orig.)

  8. Phakomatosis Pigmentovascularis Associated With Sturge–Weber Syndrome, Ota Nevus, and Congenital Glaucoma

    Science.gov (United States)

    Yang, Yangfan; Guo, Xiujuan; Xu, Jiangang; Ye, Yiming; Liu, Xiaoan; Yu, Minbin

    2015-01-01

    Abstract Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis. We describe 3 cases of PPV combined with bilateral Sturge–Weber syndrome (SWS), Ota nevus, and congenital glaucoma. Case 1 was a 2-year-old boy. Facial port-wine stains distributed along the 3 branches of his trigeminal nerves, which suggested the existence of SWS. Gray-blue patches were spread over the frontal and temporal areas of bilateral face, waist, buttocks, and thigh. Bilateral triangular alopecia was found on the temporal scalp. The diagnosis of Ota nevus was made by the bilateral scleral malanocystosis. Increased intraocular pressure, enlarged cornea, and pathologic optic disc cupping supported the diagnoses of infantile bilateral glaucoma. Case 2 was a 4-year-old boy. Port-wine stains were found on the face along the 3 branches of the trigeminal nerve and distributed along the trunk, arms, and legs. Mongolian spots spread over his frontal and temporal areas of the bilateral face, waist, buttocks, thigh, abdomen, and back. Infantile glaucoma was found in both eyes. Ota nevus were found in the both eyes. Optic coherent tomography (OCT) scans revealed increased thickness of choroid. Case 3 was a 5-year-old boy. Besides Ota nevus and infantile glaucoma in both eyes, color Doppler ultrasonography showed choroidal hemagioma. OCT scan showed increased choroidal thickness. The bilateral triangular alopecia on the child's temporal scalp was similar to that of Case 1. Cases 1 and 2 presented with port-wine stain patches that were consistent with the characteristic manifestation of PPV type IIb. However, the CMTC of Case 3 met the diagnostic criteria for PPV type Vb. Case 1 was treated with trabeculotomies in both eyes. For Cases 2 and 3, surgical interventions were not considered due to the high risks of antiglaucomatous operation complications. We prescribed them antiglaucoma

  9. Phakomatosis Pigmentovascularis Associated With Sturge-Weber Syndrome, Ota Nevus, and Congenital Glaucoma.

    Science.gov (United States)

    Yang, Yangfan; Guo, Xiujuan; Xu, Jiangang; Ye, Yiming; Liu, Xiaoan; Yu, Minbin

    2015-07-01

    Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis.We describe 3 cases of PPV combined with bilateral Sturge-Weber syndrome (SWS), Ota nevus, and congenital glaucoma.Case 1 was a 2-year-old boy. Facial port-wine stains distributed along the 3 branches of his trigeminal nerves, which suggested the existence of SWS. Gray-blue patches were spread over the frontal and temporal areas of bilateral face, waist, buttocks, and thigh. Bilateral triangular alopecia was found on the temporal scalp. The diagnosis of Ota nevus was made by the bilateral scleral malanocystosis. Increased intraocular pressure, enlarged cornea, and pathologic optic disc cupping supported the diagnoses of infantile bilateral glaucoma. Case 2 was a 4-year-old boy. Port-wine stains were found on the face along the 3 branches of the trigeminal nerve and distributed along the trunk, arms, and legs. Mongolian spots spread over his frontal and temporal areas of the bilateral face, waist, buttocks, thigh, abdomen, and back. Infantile glaucoma was found in both eyes. Ota nevus were found in the both eyes. Optic coherent tomography (OCT) scans revealed increased thickness of choroid. Case 3 was a 5-year-old boy. Besides Ota nevus and infantile glaucoma in both eyes, color Doppler ultrasonography showed choroidal hemagioma. OCT scan showed increased choroidal thickness. The bilateral triangular alopecia on the child's temporal scalp was similar to that of Case 1. Cases 1 and 2 presented with port-wine stain patches that were consistent with the characteristic manifestation of PPV type IIb. However, the CMTC of Case 3 met the diagnostic criteria for PPV type Vb.Case 1 was treated with trabeculotomies in both eyes. For Cases 2 and 3, surgical interventions were not considered due to the high risks of antiglaucomatous operation complications. We prescribed them antiglaucoma indications

  10. A case of Becker’ s nevus syndrome%Becker痣综合征1例

    Institute of Scientific and Technical Information of China (English)

    张倩; 朱文元; 骆丹

    2014-01-01

    患者,女,22岁。右肩胛及胸部淡褐色不规则色素沉着斑伴右侧乳房发育不全10余年。胸部X线结果示:脊柱下胸段稍侧弯。诊断:Becker痣综合征。%A 22 -year-old female presented with irregular pigmentation spot on the right shoulder and chest with hypoplasia of the right breast for 10 years. Chest X-ray showed the lower thoracic spine appears scoliosis slightly. The diagnosis of Becker's nevus syndrome was made.

  11. ON NEVI AND MELANOMAS IN DYSPLASTIC NEVUS SYNDROME PATIENTS

    NARCIS (Netherlands)

    CRIJNS, MB; BERGMAN, W; Berger, MJ; HERMANS, J; SOBER, AJ

    1993-01-01

    Cutaneous melanoma may occur as isolated, so-called 'sporadic' cases or in association with multiple atyical naevi and in familial clusters, in which case it is referred to as the familial dysplastic naevus syndrome (DNS). In this retrospective study (a) the number and body distribution of naevocyti

  12. Endoscopic therapy for esophageal hematoma with blue rubber bleb nevus syndrome

    Institute of Scientific and Technical Information of China (English)

    Mika; Takasumi; Takuto; Hikichi; Tadayuki; Takagi; Masaki; Sato; Rei; Suzuki; Ko; Watanabe; Jun; Nakamura; Mitsuru; Sugimoto; Yuichi; Waragai; Hitomi; Kikuchi; Naoki; Konno; Hiroshi; Watanabe; Katsutoshi; Obara; Hiromasa; Ohira

    2014-01-01

    A 57-year-old woman previously diagnosed with blue rubber bleb nevus syndrome(BRBNS) reported hematemesis. BRBNS is a rare vascular anomaly syndrome consisting of multifocal hemangiomas of the skin and gastrointestinal(GI) tract but her GI tract had never been examined. An upper gastrointestinal endoscopy revealed a large bleeding esophageal hematoma positioned between the thoracic esophagus and the gastric cardia. An endoscopic injection of polidocanol was used to stop the hematoma from bleeding. The hematoma was incised using the injectionneedle to reduce the pressure within it. Finally, argon plasma coagulation(APC) was applied to the edge of the incision. The esophageal hematoma disappeared seven days later. Two months after the endoscopic the rapy, the eso phage alulcerhealed and the hemangioma did not relapse. This rare case of a large esophageal hematoma originating from a hemangioma with BRBNS was treated using a combination of endoscopic therapy with polidocanol injection, incision, and APC.

  13. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    Science.gov (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  14. Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims)

    Energy Technology Data Exchange (ETDEWEB)

    Neumann, Luitgard M.; Kunze, Juergen [Institute of Human Genetics, Charite, Campus Virchow-Klinikum, Augustenburger Platz 1, Humboldt University, 13353 Berlin (Germany); Scheer, Ianina; Stoever, Brigitte [Pediatric Radiology Strahlenklinik und Poliklinik, Charite, Campus Virchow-Klinikum, Humboldt-University, Berlin (Germany)

    2003-09-01

    The report focuses on a rare variant form of epidermal nevus syndrome (ENS) (Schimmelpenning-Feuerstein-Mims syndrome) describing lesions involving the skin, eyes, skeleton, heart and brain in an 11-year-old boy. Despite his evident brain pathology, the boy lacks neurological symptoms and mental retardation. We describe his unusual MRI appearances and radiographic skeletal findings. To our knowledge this is the first report of ENS with lymphoedema occurring together in the same individual. (orig.)

  15. Hypophosphatemic rickets associated with giant hairy nevus

    Directory of Open Access Journals (Sweden)

    Sameer Aggarwal

    2013-01-01

    Full Text Available The association of multisystem pathologic conditions and epidermal nevi, known as the epidermal nevus syndrome, includes disorders of bone, central nervous system, eye, kidney, vasculature and skin. Rarely, congenital nevomelanocytic nevus also known as hairy nevus has also been reported in association with hypophosphatemic rickets. Studies suggest that phosphaturia, caused by circulating factors, called "phosphatonins" may be secreted by an epidermal or hairy nevus. We report here, a rare case of hypophosphatemic rickets associated with a giant hairy nevus in a 10-year-old boy.

  16. Claudin11 Promoter Hypermethylation Is Frequent in Malignant Melanoma of the Skin, but Uncommon in Nevus Cell Nevi

    Energy Technology Data Exchange (ETDEWEB)

    Walesch, Sara K.; Richter, Antje M. [Institute for Genetics, Justus-Liebig-University Giessen, D-35392 Giessen (Germany); Helmbold, Peter [Department of Dermatology, University of Heidelberg, D-69120 Heidelberg (Germany); Dammann, Reinhard H., E-mail: reinhard.dammann@gen.bio.uni-giessen.de [Institute for Genetics, Justus-Liebig-University Giessen, D-35392 Giessen (Germany)

    2015-07-07

    Epigenetic inactivation of tumor-related genes is an important characteristic in the pathology of human cancers, including melanomagenesis. We analyzed the epigenetic inactivation of Claudin 11 (CLDN11) in malignant melanoma (MM) of the skin, including six melanoma cell lines, 39 primary melanoma, 41 metastases of MM and 52 nevus cell nevi (NCN). CLDN11 promoter hypermethylation was found in 19 out of 39 (49%) of the primary MM and in 21 out of 41 (51%) of the MM metastases, but only in eight out of 52 (15%) of NCN (p = 0.001 and p = 0.0003, respectively). Moreover, a significant increase in the methylation level of CLDN11 from primary melanomas to MM metastases was revealed (p = 0.003). Methylation of CLDN11 was significantly more frequent in skin metastases (79%) compared to brain metastases (31%; p = 0.007). CLDN11 methylation was also found in five out of six MM cell lines (83%) and its promoter hypermethylation correlated with a reduced expression. Treatment of MM cell lines with a DNA methylation inhibitor reactivated CLDN11 transcription by its promoter demethylation. In summary, CLDN11 proved to be an epigenetically inactivated tumor related gene in melanomagenesis, and analysis of CLDN11 methylation level represents a potential tool for assisting in the discrimination between malignant melanoma and nevus cell nevi.

  17. Nevus Outreach, Inc.

    Science.gov (United States)

    ... Congenital Melanocytic Nevi Welcome Kent Blount Welcome Science Journalist Pat McAdams Four Nevus Families Reunited Donor Challenge ... Congenital Melanocytic Nevi Welcome Kent Blount Welcome Science Journalist Pat McAdams Four Nevus Families Reunited Donor Challenge ...

  18. Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Yeliz Bilir

    2014-01-01

    Full Text Available Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts, the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome.

  19. Metastatic Basal cell carcinoma accompanying gorlin syndrome.

    Science.gov (United States)

    Bilir, Yeliz; Gokce, Erkan; Ozturk, Banu; Deresoy, Faik Alev; Yuksekkaya, Ruken; Yaman, Emel

    2014-01-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome.

  20. Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome.

    Science.gov (United States)

    Nelson, Garrett; Iyengar, Sanjana; Shenefelt, Philip

    2016-01-01

    A six-year-old boy with Pallister-Killian syndrome (PKS) presented to the clinic with extensive lesions on his body (Figure 1). The patient was not born with the lesions but began developing them on the head and neck, extending to his lower extremities, at 2 years of age. These lesions had been evaluated by his primary care physician and were previously treated with desonide and ketoconazole cream with little improvement.

  1. Pruritic acquired nevus of Ota.

    Science.gov (United States)

    Quenan, S; Strueven, V; Saxer, N; Laffitte, E; Kaya, G; Krischer, J; Hafezi, F; Le Gal, F-A

    2013-01-01

    Nevus of Ota is a unilateral, asymptomatic cutaneous and mucosal hyperpigmentation of the face that is congenital or may appear during childhood. We present a case of symptomatic acquired nevus of Ota in an adult, associated with intense pruritus, not described in the literature so far. A 32-year-old woman presented with brownish mottled macules which appeared on her face progressively over 8 days, following the distribution of the first and second divisions of the left trigeminal nerve and partially covering the iris and sclera of the left eye. She reported an intense pruritus in this area. We performed a biopsy on the left forehead, which confirmed the diagnosis of nevus of Ota. Specific stains and immunohistochemistry revealed increased numbers of mast cells. Ophthalmological tests showed acute acquired melanocytosis of the left iris and sclera. The origin of the nevus is still unclear. Several hypotheses suggest a reactivation of melanocytes during their migration from the neural crest. The pruritus reported in our patient may be explained by the increased quantity of mast cells observed in the lesion and/or neuronal stimulation of the ophthalmic and maxillary divisions of the fifth cranial nerve.

  2. Nevus of ota associated with nevus of Ito

    Directory of Open Access Journals (Sweden)

    Mukhopadhyay Amiya

    2004-03-01

    Full Text Available Nevus of Ota is a dermal melanocytic nevus seen predominantly in females. It is uncommon in India. Its association with nevus of Ito, another dermal melanocytic nevus, is extremely rare. We report this rare association in a male patient, which is another interesting feature of the present case.

  3. Atypical cellular blue nevus or malignant blue nevus?*

    Science.gov (United States)

    Daltro, Luise Ribeiro; Yaegashi, Lygia Bertalha; Freitas, Rodrigo Abdalah; Fantini, Bruno de Carvalho; Souza, Cacilda da Silva

    2017-01-01

    Blue nevus is a benign melanocytic lesion whose most frequent variants are dendritic (common) blue nevus and cellular blue nevus. Atypical cellular blue nevus presents an intermediate histopathology between the typical and a rare variant of malignant blue nevus/melanoma arising in a cellular blue nevus. An 8-year-old child presented a pigmented lesion in the buttock since birth, but with progressive growth in the last two years. After surgical excision, histopathological examination revealed atypical cellular blue nevus. Presence of mitoses, ulceration, infiltration, cytological atypia or necrosis may occur in atypical cellular blue nevus, making it difficult to differentiate it from melanoma. The growth of blue nevus is unusual and considered of high-risk for malignancy, being an indicator for complete resection and periodic follow-up of these patients. PMID:28225968

  4. Nevus lipomatosus cutaneous superficialis*

    Science.gov (United States)

    Carvalho, Gustavo de Sá Menezes; Cavalcanti, Silvana Maria de Morais; Herênio, Alzinira Souza; Teixeira, Márcia Almeida Galvão; de Alencar, Eliane Ruth Barbosa; Gonçalves, Sergio Paulo Mendes

    2016-01-01

    We report a case of nevus lipomatosus cutaneous superficialis of Hoffman-Zurhelle (NCLS), with multiple lesions, in a ten-year-old child. The NLCS is considered rare. The classical clinical presentation is characterized by multiple skin-colored or yellowish papules and nodules, which can have a linear distribution. Histologically, it is characterized by the presence of mature ectopic adipocytes in the dermis. The main therapeutic option is surgical excision. The classical Nevus lipomatosus cutaneous superficialis is reported in this case.

  5. Giant Blue Nevus: A New Association to Nevus of Ota.

    Science.gov (United States)

    Medel, Ramón; Vasquez, LuzMaria; Fernandez, Javier; Huguet, Pere; Pamias, Jordi

    2015-01-01

    Nevus of Ota, also known as oculodermal melanocytosis, is a congenital pigmentary condition that can affect structures in the distribution of the ophthalmic and maxillary divisions of the trigeminal cranial nerve. Malignant transformation, although rare, may occur within nevus of Ota and result in uveal, cutaneous, orbital or even dural melanoma. We present a new association of Nevus of Ota complicated with a giant orbital Blue Nevus in a young white male and the management of this tumor.

  6. Cerebriform intradermal nevus presenting as cutis verticis gyrata with multiple cellular blue nevus over the body: A rare occurrence

    Directory of Open Access Journals (Sweden)

    Somenath Sarkar

    2014-01-01

    Full Text Available Cutis verticis gyrata is a rare skin condition characterized by swelling of scalp resembling the surface of the brain. Various conditions, like cerebriform intradermal nevus (CIN, may give rise to this clinical entity. Moreover, its association with cellular blue nevus is extremely rare and has not been reported so far. Here, we report a 28-year-old male with a huge cerebriform swelling covering the occipital lobe along with multiple nodules all over the body. Histology of the scalp swelling showed solitary or clusters of nevus cells in the dermis and from the body lesions showed features of cellular blue nevus. The diagnosis of CIN with cellular blue nevus was confirmed

  7. The additive influence of nevus flammeus and the nevus of Ota on congenital glaucoma

    Directory of Open Access Journals (Sweden)

    Sihota Ramanjit

    1991-01-01

    Full Text Available Nevus flammeus and nevus of Ota are commonly encountered dermatological conditions, but both individually, are only occasionally associated with glaucoma. The occurrence of isolated nevus flammeus along with nevus of Ota in the same patient is also extremely rare. We are presenting two unusual cases, both having a nevus of Ota, together with nevus flammeus and severe congenital glaucoma.

  8. Molecular analysis of a case of nevus of ota showing progressive evolution to melanoma with intermediate stages resembling cellular blue nevus.

    Science.gov (United States)

    Gerami, Pedram; Pouryazdanparast, Pedram; Vemula, Swapna; Bastian, Boris C

    2010-05-01

    Nevus of Ota is a variant of congenital nevus, which is morphologically paucicellular and resembles a common blue nevus. Although nevus of Ota is a risk factor for uveal melanoma in white people, the development of cutaneous melanoma within nevus of Ota is a very rare occurrence with only a few reported cases. We present a case of a long-standing nevus of Ota, with radiologic imaging demonstrating a large retro-orbital mass and a biopsy showing melanoma. The histopathology of the eye exenteration specimen illustrated various stages of melanocytic progression including areas resembling a nevus of Ota, blue nevus, cellular blue nevus, and melanoma. There was heterogeneity in the overtly malignant sections with some areas displaying expansile nodules of blander appearing spindled cells, whereas other areas were composed of epithelioid cells with higher mitotic counts and zones of necrosis. The extensive lesion also infiltrated the soft tissue and bone. We performed gene mutation analysis for GNAQ, BRAF, NRAS, and KIT and fluorescence in situ hybridization (FISH) targeting commonly altered chromosomal loci in melanoma and comparative genomic hybridization (CGH). Copy number changes typical of melanoma were identified by both FISH and CGH in the morphologically malignant areas illustrating the relationship of tumor progression and the progressive acquisition of genetic aberrations.

  9. What's New in Research and Treatment of Basal and Squamous Cell Skin Cancers?

    Science.gov (United States)

    ... basal cell nevus syndrome. For example, the drug vismodegib (Erivedge) has been shown to lower the number ... do, these cancers can be hard to treat. Vismodegib and sonidegib, drugs that target the hedgehog signaling ...

  10. Incidentally Detected Blue Nevus of Endocervix: a Case Report

    Science.gov (United States)

    Bhat, Shaila Talengala; Shivamurthy, Archana; Kini Rao, Anuradha Calicut

    2015-01-01

    Blue nevi are uncommon, asymptomatic lesions of the uterine cervix. These lesions are not often detected clinically or on colposcopy. Careful histopathological examination is required. The nevus cells are said to originate from the immature melanoblasts of the neural crest. These lesions need to be differentiated from malignant melanoma and melanosis of the cervix. We present here a case report of incidentally detected cervical blue nevus in a 52 year old lady. PMID:26351493

  11. Bilateral familial nevus of Ota.

    Science.gov (United States)

    Goyal, Sunali; Uwaydat, Sami H; Phillips, Paul H; Schaefer, G Bradley

    2014-12-01

    Nevus of Ota is a benign congenital melanocytic lesion found most commonly in people of Asian ancestry. It is associated with an increased risk of glaucoma and uveal melanomas. Most cases are sporadic and unilateral. We present the first reported case of a brother and sister with familial, bilateral nevus of Ota.

  12. Deep penetrating nevus: A distinct variant of melanocytic nevus

    Directory of Open Access Journals (Sweden)

    Aparna Gupta

    2011-01-01

    Full Text Available Deep penetrating nevus (DPN is a variant of melanocytic nevus which goes unrecognized due to its relative rarity and may be misinterpreted as malignant melanoma. It commonly presents in young adults as a dark pigmented lesion on the face, neck, or shoulder. A 60-year-old lady presented with a mole over the left arm of 8 years duration. A biopsy of the lesion was performed under the clinical impression of a compound nevus with suspicion of malignancy. Based on the histologic features, a diagnosis of DPN was put forward.

  13. Manifestations, Treatment Implications and Speech-Language Consideration in Gorlin Syndrome: A Case Study.

    Science.gov (United States)

    Andrews, Alice E.; Stonestreet, Ruth H.

    This paper presents a case study of Gorlin Syndrome, also known as Basal Cell Nevus Syndrome, a rare genetic disorder characterized by widespread developmental defects. Criteria for diagnosis are listed, noting the presence of frequent basal cell carcinomas at a relatively young age and multiple cysts of the jaw. Speech and/or language impairments…

  14. Verrucous Spitz Nevus in a Japanese Female

    Directory of Open Access Journals (Sweden)

    Rie Honda

    2013-11-01

    Full Text Available A 23-year-old female presented with a reddish-brown dome-shaped hyperkeratotic nodule of 11 × 10 mm on the left lower leg. Dermoscopic examination demonstrated a prominent whitish scaly area with ring-like appearance, pinkish-white structureless areas, a few milia-like cysts, dotted and glomerular vessels, and light brown globules. The lesion was completely excised under the diagnosis of verruca vulgaris or dermatofibroma. Histopathological examination revealed a well-circumscribed symmetric lesion with hyperkeratosis, acanthosis, and pseudohorn cysts. The lesion was composed of spindle-shaped and epithelioid melanocytes with large cytoplasm arranged in confluent nests surrounded by stromal fibrosis. Mitotic figures and Kamino bodies were absent. Moderate proliferation of capillaries was found in the papillary dermis. Immunohistochemical staining with melan-A or S-100 was positive for tumor cells, but the staining with HMB-45 was negative. Melan-A staining was weaker in the deeply situated cells than in the superficial ones, which is known as stratification. Finally, we made a diagnosis of verrucous Spitz nevus based on these findings. We should have been aware of the entity of verrucous Spitz nevus as a variant of Spitz nevus and its dermoscopic features in order to reach a correct diagnosis before excision.

  15. Nevoid Basal-Cell Syndrome: literature review and case report in a family

    Directory of Open Access Journals (Sweden)

    Alfio José Tincani

    Full Text Available The Nevoid Basal-Cell Carcinoma Syndrome (NBCC, or as it is also referred to, basal-cell nevus syndrome or Gorlin-Goltz syndrome, is characterized by multiple early-appearing basal cell carcinomas, keratocytosis of the mandible, and anomalies of the ocular, skeletal reproductive system. We describe four patients in the same family, all of them possessing a large number of skin tumors associated with other typical clinical and X-Ray anomalies of NBCC. The definitive treatment of NBCC has yet to be established, however, early diagnosis is very important as well as the periodical follow-up examination of ten patients, mainly due to the transformations in the skin lesions that may occur.

  16. 线样脂腺综合征患者的眼部多样性损害%Ocular diversity of damage in patients with linear nevus sebaceous syndrome

    Institute of Scientific and Technical Information of China (English)

    戴玲; 颜建华

    2012-01-01

    目的 报告线样脂腺综合征患者的多种眼部表现.方法 回顾性分析首诊于眼科的6例线样脂腺综合征患者的临床、病理及影像学检查结果.结果 6例(6只眼)线样脂腺综合征患者中,男3例,女3例;年龄4个月至12岁,平均4.4岁;右眼2例,左眼4例.6例中只有1例有癫痫发作和智力迟钝;所有6例患者均有患眼同例的头顶、面部和颈部的脂腺痣,且6例患者头颅CT检查均显示与患眼同侧或双侧的颅脑组织发育不良、萎缩或积液.眼部检查全部患者均有上睑肿物和角结膜皮样瘤,眼部CT均有眼眶壁不同程度钙化.其他眼部改变包括变异大泪腺组织,上睑外翻,眼睑闭合不全,上睑下垂,小睑裂,小眼球,下泪小点缺如,斜视,结膜鳞状上皮增生干燥,角膜混浊,视盘苍白,脉络膜血管瘤,视神经发育不良等.结论 线样脂腺综合征眼部异常多种多样,以上睑肿物和角结膜皮样瘤最多见,眼部CT均有眼眶壁不同程度钙化.%Objective To report a variety of ocular manifestations in patients with linear nevus sebaceous syndrome.Methods The clinical,pathological and imaging findings were retrospectively reviewed in 6 patients with linear nevus sebaceous syndrome who were seen by the corresponding author in Zhongshan Ophthalmic Center,Sun Yat-sen University,between Feb.2006 and Dec.2009.Results Among the 6 cases(6 eyes),3 were male and 3 were female.The patients'age ranged from 4 months and 12 years old,with a mean of 4.4 years.Two were the right eye and 4 the left eye.Only one of the six cases suffered from seizures and mental retardation.All patients had the sebaceous nevus located at the scalp,the face and neck on the same side of the involved eye.The computed tomography(CT)scan of the brain showed unilateral or bilateral brain dysplasia and atrophy in all patients.All 6 patients had upper eyelid tumor,corneal/conjunctival dermoid,and a different degree of calcification of the eyewall on CT

  17. 蓝色橡皮大疱痣综合征一例报告%Blue rubber bleb nevus syndrome: a rare cause of gastroenterol bleeding

    Institute of Scientific and Technical Information of China (English)

    缪惠标; 陶力; 田虹

    2013-01-01

    蓝色橡皮大疱痣综合征(BRBNS)是一种罕见的原因尚不明确的疾病,特点为全身多发静脉畸形病灶.该文报道1例34岁女性,发现全身皮肤多发蓝紫色肿物20余年,反复黑便及鲜血便2年,并因严重贫血需长期输血治疗.全腹CT平扫可见肝脏、脾脏、肾脏、子宫、盆腔内及臀大肌内大量结节状病灶,血管造影显示病灶为静脉畸形.胃镜、肠镜、胶囊内镜显示全消化道共约150余处大小不一静脉畸形病灶并多发性出血.治疗包括半流和精细软食,补铁,沙利度胺(反应停)维持治疗,患者血红蛋白由56 g/L升至102 g/L并维持于该水平,未再出现显性出血,随诊2年病情稳定,后死于肾盂肾炎败血症.全身如此大量的病灶特别是大量胃肠道病灶在已有的BRBNS文献报道中尚属罕见,且对于多病灶出血,可试用沙利度胺以控制病情.%Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple venous malformations,with unknowed etiology.Herein,we report a thirty-four years old woman with multiple blue cutaneous masses for over 20 years,who had suffered melena and bloody stool for two years.She had severe anemia and had to receive blood transfusion for a long term.CT scan of abdomen showed a large number of nodular lesions in liver,kidney,uterus,pelvic cavity and gluteus maximus.Angiography confirmed those lesion as venous malformations.Gastroscopy,colonoscopy,capsule endoscopy show nearly over 150 venous malformations throughout gastrointestinal tract and some of them were bleeding.Therapy included semi-flow and soft diet,iron supplement,and oral thalidomide.HGB of the patient increased from 56 g/L to 102 g/L.Dominant gastrointestinal bleeding disappeared and her condition remained well during two years of follow-up.Finally,she died of pyelonephritis and septicemia.It is extremely rare with so many lesions in gastrointestinal tract among the cases with BRBNS ever reported

  18. Familial nevus of ota

    Directory of Open Access Journals (Sweden)

    Kumari Rashmi

    2006-01-01

    Full Text Available A 23-year-old pregnant woman with an asymptomatic unilateral, bluish, pigmented lesion on her left periocular skin was referred from the obstetrics department for dermatological evaluation. Dermatologic examination revealed unilateral, blue-gray, poorly defined macule on the periorbital skin of the left side of the face mainly over the malar prominence and left temple not crossing the midline, conforming to the maxillary division of trigeminal nerve distribution. The pigmentation was speckled with interspersed dark-brownish elements. Her father, a 47 - year- old man had a similar pigmentation at the same site over the malar prominence of face not extending onto the forehead. Here we report two cases of nevus of Ota occurring in 2 generations of the same family for its rarity.

  19. Late onset Ito's nevus

    Science.gov (United States)

    Resende, Cristina; Araújo, Catarina; Vieira, Ana Paula; Brito, Celeste

    2013-01-01

    Dermal melanocytoses include a variety of congenital and acquired melanocytic lesions characterised by the presence of multiple spindle-shaped dendritic melanocytes in the dermis. These lesions are commonly found in the skin of Asians, but they can also appear in Caucasians. The Mongolian spot, nevi of Ota and Ito are the most common morphological forms. We report a case of a 24-year-old Caucasian woman presented with a 10-months history of progressive darkening of the right side of her upper back. Cutaneous examination revealed a macular blue-grey hyperpigmentation of the right side of her upper back. Biopsy specimen from the macule showed multiple darkly pigmented, spindle-shaped dendritic melanocytes in the superficial dermis, interstitially arranged between collagen bundles. The diagnosis of nevus of Ito was established. Our patient is maintaining vigilance in dermatology consultation. PMID:23729678

  20. Late onset Ito's nevus.

    Science.gov (United States)

    Resende, Cristina; Araújo, Catarina; Vieira, Ana Paula; Brito, Celeste

    2013-05-30

    Dermal melanocytoses include a variety of congenital and acquired melanocytic lesions characterised by the presence of multiple spindle-shaped dendritic melanocytes in the dermis. These lesions are commonly found in the skin of Asians, but they can also appear in Caucasians. The Mongolian spot, nevi of Ota and Ito are the most common morphological forms. We report a case of a 24-year-old Caucasian woman presented with a 10-months history of progressive darkening of the right side of her upper back. Cutaneous examination revealed a macular blue-grey hyperpigmentation of the right side of her upper back. Biopsy specimen from the macule showed multiple darkly pigmented, spindle-shaped dendritic melanocytes in the superficial dermis, interstitially arranged between collagen bundles. The diagnosis of nevus of Ito was established. Our patient is maintaining vigilance in dermatology consultation.

  1. Surgical management of Gorlin syndrome: a 4-decade experience using local excision technique.

    Science.gov (United States)

    Griner, Devan; Sutphin, Daniel; Sargent, Larry A

    2015-04-01

    Basal cell nevus syndrome (aka Gorlin syndrome, Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, and fifth phacomatosis) is a rare but well-described autosomal dominant condition with variable penetrance. We present a female patient who has been successfully treated using local surgical excision and diligent skin surveillance for more than 4 decades, demonstrating that simple local incision is an efficacious and reasonable surgical alternative that may circumvent the specialization and expense of Mohs technique.

  2. Agminated Fibroblastic Conective Tissue Nevus: A New Clinical Presentation.

    Science.gov (United States)

    Downey, Camila; Requena, Luis; Bagué, Silvia; Sánchez Martínez, Miquel Ángel; Lloreta, Josep; Baselga, Eulalia

    2016-07-01

    Connective tissue nevi are benign hamartomatous lesions in which one or several of the components of the dermis (collagen, elastin, glicosaminoglycans) show predominance or depletion. Recently, de Feraudy et al broadened the spectrum of connective tissue nevus, describing fibroblastic connective tissue nevus (FCTN), which is characterized by proliferation of CD34(+) cells of fibroblastic and myofibroblastic lineage. Only solitary papules and nodules have been described. We present the first case of FCTN with multiple agminated lesions on the leg of an infant and the difficulties encountered in the differential diagnosis with dermatofibrosarcoma protuberans.

  3. Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy.

    Science.gov (United States)

    Sprague, Jessica; Landau, Joseph W

    2016-09-01

    Birt-Hogg-Dubé syndrome is an uncommon genodermatosis characterized by hair follicle hamartomas and an increased risk of pneumothorax and renal cell carcinoma. Recognition of cutaneous manifestations is essential because it allows for early screening and management of systemic complications. We present the case of an 8-year-old boy with a recently described cystic and comedonal variant of the classic fibrofolliculoma, which had been present since birth.

  4. Eccrine Poroma Arising within Nevus Sebaceous

    Directory of Open Access Journals (Sweden)

    Natnicha Girdwichai

    2016-04-01

    Full Text Available Nevus sebaceous is a congenital, benign hamartomatous lesion, characterized by a yellowish to skin-colored, hairless, verrucous plaque on the head and neck region. In later life, a secondary tumor, either benign or malignant, can develop within nevus sebaceous. Eccrine poroma developing on nevus sebaceous is extremely rare. There are few case reports of eccrine poroma developing within nevus sebaceous. We report a case of a 30-year-old female who presented with a congenital, hairless, verrucous, yellowish lesion on the scalp and an erythematous nodule arising within the yellowish lesion for 8 months. Her clinical presentation and histopathological findings were compatible with nevus sebaceous and eccrine poroma.

  5. Hair Follicle Nevus: A Case Report

    Directory of Open Access Journals (Sweden)

    İnci Mevlitoğlu

    2014-06-01

    Full Text Available Hair follicle nevus (HFN is a rare hamartoma showing follicular differentiation. Hamartomas are benign tumoral formations caused by overproduction of normal tissues and cells. HFN was first introduced by Gans et al in 1928. There are a few reports in literature on HFN appearing as multiple lesions, which is often observed as a single papule or nodule. We are hereby present our patient having complaints beginning in early childhood as his lesions might be confused with other dermatoses located on face area. As far as we know, our patient is the first HFN case with bilateral, multiple, perioral, perinasal, periorbital and genital involvements.

  6. Nevus of Ota in children.

    Science.gov (United States)

    Sinha, Smeeta; Cohen, Philip J; Schwartz, Robert A

    2008-07-01

    Nevus of Ota, synonymously termed oculodermal melanosis, is an uncommon dermal melanosis most commonly seen at birth in children of Japanese descent, though it can affect individuals of any age or ethnicity. The disease tends to persist and extend locally, becoming increasingly prominent with age, puberty, and postmenopausal state. Treatment should begin early after diagnosis using multiple sessions of laser photothermolysis to avoid darkening and extension of the lesion. Important associated disorders include ipsilateral glaucoma; intracranial melanocytosis; and rarely cutaneous, ocular, or intracranial melanoma. Recommendations are discussed for managing nevus of Ota in children.

  7. Eccrine nevus with epidermal changes.

    Science.gov (United States)

    Imai, S; Nitto, H

    1983-01-01

    A 22-year-old woman with papular lesions on the extensor aspect of the left leg, present since childhood, with linear distribution is described. Histology of the lesion showed malformed eccrine sweat apparatus with ductal hyperplasia, in addition to the serrated configuration of the epidermis. It appears that the lesions of the eccrine apparatus in this case represent a nevus.

  8. Synchronous melanomas arising within nevus spilus*

    Science.gov (United States)

    de Brito, Maria Helena Toda Sanches; Dionísio, Cecília Silva Nunes de Moura; Fernandes, Cândida Margarida Branco Martins; Ferreira, Joana Cintia Monteiro; Rosa, Maria Joaninha Madalena de Palma Mendonça da Costa; Garcia, Maria Manuela Antunes Pecegueiro da Silva

    2017-01-01

    Nevus spilus is a melanocytic cutaneous lesion consisting of a light brown background macule with numerous superimposed darker maculopapular speckles. Melanoma arising from a nevus spilus is rare, with less than 40 cases reported to date. The absolute risk for malignant transformation is not well defined, lacking a standardized management approach. We report a new case of melanoma arising from nevus spilus, with the additional peculiarity of multifocality. We offer our recommendations for the management of the condition. PMID:28225967

  9. Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: Linkage and loss of heterozygosity

    Energy Technology Data Exchange (ETDEWEB)

    Chenevix-Trench, G.; Wicking, C.; Berkman, J.; Sharpe, H.; Hockey, A.; Haan, E.; Oley, C.; Ravine, D.; Turner, A.; Searle, J. (and others)

    1993-09-01

    Nevoid basal cell carcinoma syndrome (NBCCS; basal cell nevus syndrome or Gorlin syndrome) is a cancer-predisposition syndrome characterized by multiple basal cell carcinomas (BCCs) and diverse developmental defects. The gene for NBCCS has been mapped to 9q23.1-q31 in North Americal and European families. In addition, loss of heterozygosity (LOH) for genetic markers in this region has been detected in sporadic BCCs, indicating that the NBCCs gene is probably a tumor-suppressor gene. In this study the authors have determined that the NBCCS gene is also linked to this region in Australasian pedigrees and that there is no significant evidence of heterogeneity. They have defined the localization of the gene by multipoint and haplotype analysis of 15 families, using four microsatellite markers. LOH at these loci was detected in 50% of sporadic BCCs, a rate that is significantly higher than that in other skin lesions used as controls. 21 refs., 3 figs., 2 tabs.

  10. Basal cell carcinoma appearing in a facial nevus sebaceous of Jadassohn: dermoscopic features Carcinoma basocelular aparecendo em um nevo sebáceo de Jadassohn: características dermatoscópicas

    Directory of Open Access Journals (Sweden)

    Maria Leonor Enei

    2012-08-01

    Full Text Available The nevus sebaceous of Jadassohn usually affects the face or scalp. It tends to evolve in three stages, and the final stage is characterized by the appearance of tumours. We present the case of a facial nevus sebaceous of Jadasshon in which a basal cell carcinoma developed. We also explore the diagnosis of this disease, which was established through dermoscopy, and propose using this technique in the clinical follow-up of this type of hamartoma, thereby allowing the early detection of cancer development.O nevo sebáceo de Jadassohn geralmente afeta a face ou o couro cabeludo. A sua tendência natural é evoluir em três estágios, sendo que o estágio final é caracterizado pelo aparecimento de tumores. Apresentamos o caso de um nevo sebáceo de Jadassohn na face a partir do qual um carcinoma basocelular se desenvolveu. Também abordamos o diagnóstico dessa doença, estabelecido por meio da dermatoscopia. Sugerimos a utilização dessa técnica no acompanhamento clínico desse hamartoma, permitindo assim a detecção precoce de um câncer.

  11. Nevoid basal cell carcinoma syndrome

    Directory of Open Access Journals (Sweden)

    Kannan Karthiga

    2006-01-01

    Full Text Available Binkley and Johnson first reported this syndrome in 1951. But it was in 1960, Gorlin-Goltz established the association of basal cell epithelioma, jaw cyst and bifid ribs, a combination which is now frequently known as Gorlin-Goltz syndrome as well as Nevoid Basal Cell Carcinoma Syndrome (NBCCS. NBCCS is inherited as an autosomal dominant trait with high penetrance and variable expressivity. NBCCS is characterized by variety of cutaneous, dental, osseous, opthalmic, neurologic and sexual abnormalities. One such case of Gorlin-Goltz syndrome is reported here with good illustrations.

  12. Het basocellulaire nevus syndroom

    NARCIS (Netherlands)

    Rittersma, Jan

    1972-01-01

    The B.N.S. shows certain similarities to other systemic diseases. these diseases are often referred to as "familial degenerative diseases" ln chapter 8 the common characteristic of theses syndromes are reviewed. The B.N.S. is often characterized by the presence of hamartomas and the tendency toward

  13. A case of adult Spitz nevus%成人Spitz痣

    Institute of Scientific and Technical Information of China (English)

    陈佳; 宋勋; 宋宁静; 章楚光; 殷芳; 乐嘉豫

    2013-01-01

    A case of adult Spitz nevus is reported. A 21-year-old male presented with a nodule on the left leg for 2 months. The histopathologic examination showed a symmetrical eosinophil clusters in the dermis. Nests of epithelioid and spindle cells without pigment extended focally into the epidermis, with Kamino bodies along the dermo-epidermal junction. Vascular proliferation was evident between cell masses in upper dermis. Cells had regular shape. Immunohistochemical staining confirmed the melanocytic origin of nevus. The diagnosis of Spitz nevus was made.%报告1例成人Spitz痣.患者男,21岁.左小腿内侧皮损2个月.组织病理检查示真皮内嗜碱性梭形细胞团块,个别区域与表皮相连并成巢.真、表皮交界处可见嗜酸性均质小体,浅层细胞团块间血管增生.细胞无明显异形.免疫组化染色证实为黑素细胞来源.诊断:Spitz痣.

  14. Agminated blue nevus - Case report*

    Science.gov (United States)

    Lisboa, Alice Paixão; Silvestre, Keline Jácome; Pedreira, Renata Leite; Alves, Natália Ribeiro de Magalhães; Obadia, Daniel Lago; Azulay-Abulafia, Luna

    2016-01-01

    Blue nevi are benign melanocytic lesions located in the deeper reticular dermis, consequence of failure of melanocytic migration into the dermal-epidermal junction from the neural crest. Lesions are usually asymptomatic and solitary, but may present in a multiple or agminated (grouped) pattern. The agminated subtype is formed when bluish-pigmented lesions cluster together in a well-defined area. Lesions can be flat or raised. We report the case of a patient who presented multiple bluish macules (1-3 mm in diameter) grouped on the left upper back. Dermoscopy and anatomic pathological examination were consistent with blue nevus. PMID:27828645

  15. Nevus of Ota: clinical-ophthalmological findings

    OpenAIRE

    Sebastião Cronemberger; Nassim Calixto; Henrique Leite Freitas

    2011-01-01

    OBJECTIVE: To analyze the clinical and ophthalmological findings of patients with nevus of Ota. METHODS: Retrospective analysis of patients' charts with nevus of Ota. We registered the demographic data, location of the nevus and date of appearance, family history of similar spots, biomicroscopic, gonioscopic, tonometric, ophthalmoscopic and perimetric findings. RESULTS: We included 14 patients, six (43.0%) men and eight (57.0%) women, with a mean age of 21.7±17.5 years. Ten (71%) were mulatt...

  16. The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis.

    Science.gov (United States)

    Ma, Han; Liao, Mengsi; Qiu, Shu; Luo, Ruijun; Lu, Rongbiao; Lu, Chun

    2015-01-01

    Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis.

  17. The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis*

    Science.gov (United States)

    MA, Han; Liao, Mengsi; Qiu, Shu; Luo, Ruijun; Lu, Rongbiao; Lu, Chun

    2015-01-01

    Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis. PMID:26312661

  18. Nevo displásico (nevo atípico Dysplastic nevus (atypical nevus

    Directory of Open Access Journals (Sweden)

    Gisele Gargantini Rezze

    2010-12-01

    Full Text Available O nevo atípico (displásico é considerado um fator importante associado com o risco aumentado de desenvolvimento do melanoma cutâneo. Acredita-se que nevos atípicos sejam lesões precursoras do melanoma cutâneo. Podem estar presentes em pacientes com múltiplos nevos melanocíticos (síndrome do nevo atípico ou isolados e em poucas quantidades em um contexto não familial. Aparecem, geralmente, na puberdade e prevalecem em indivíduos jovens. Têm predileção por áreas expostas ao sol, especialmente, o tronco. O grande desafio em relação ao nevo atípico reside na controvérsia em se definir sua nomenclatura, diagnóstico clínico, critérios dermatoscópicos, diagnóstico histopatológico e aspectos moleculares. Esta revisão tem por objetivo trazer o conhecimento, facilitar o entendimento e responder às questões duvidosas concernentes ao nevo atípico.Atypical nevum (dysplastic is considered an important factor associated with increased risk of developing cutaneous melanoma. It is believed that atypical nevi are precursor lesions of cutaneous melanoma. They may be present in patients with multiple melanocytic nevi (atypical nevus syndrome or isolated and in small numbers in a non-familial context. The disease usually begins at puberty and predominates in young people. It has a predilection for sun-exposed areas, especially the trunk. The major challenge in relation to atypical nevi lies in the controversy of defining its nomenclature, clinical diagnosis, dermoscopic criteria, histopathological diagnosis and molecular aspects. This review aims at bringing knowledge, facilitating comprehension and clarifying doubts about atypical nevus.

  19. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Lo Muzio Lorenzo

    2008-11-01

    Full Text Available Abstract Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs, odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies. Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling. Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome. Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser

  20. Divided or kissing nevus of the penis.

    Science.gov (United States)

    Hardin, Carolyn A; Tieu, Kathy D

    2013-10-16

    The divided or kissing nevus is an unusual congenital melanocytic nevus. By definition, these nevi appear on skin that separates during embryological development. These lesions have been reported on the eyelids, fingers, and rarely the penis. We describe an 18 year old uncircumcised male who presented with an asymptomatic darkly pigmented patch on the glans penis. He reported that the lesion had appeared recently and was enlarging. Physical examination revealed a second symmetric lesion on the adjacent foreskin. Punch biopsy of the lesion on the glans penis showed abundant intradermal melanocytes devoid of mitoses and atypia, consistent with an intradermal melanocytic nevus. Based on the benign histologic nature and clinical exam, the lesion was diagnosed as a divided or kissing nevus of the penis. Proposed treatments include excision and grafting as well as Nd:YAG laser therapy. However, these patients may be safely monitored with regular follow-up skin examinations because there is minimal risk of malignant transformation.

  1. Lasers and nevus of Ota: a comprehensive review.

    Science.gov (United States)

    Shah, Vidhi V; Bray, Fleta N; Aldahan, Adam S; Mlacker, Stephanie; Nouri, Keyvan

    2016-01-01

    Nevus of Ota is a benign dermal melanocytic nevus that typically affects Asian children and women. The nevus presents as unilateral blue-gray hyperpigmented macules and patches scattered along the first and second divisions of the trigeminal nerve. Individuals with nevus of Ota experience emotional and psychosocial distress related to cosmetic disfigurement and often look for treatment options. Unfortunately, even when treated early, lesions of nevus of Ota are still difficult to treat. The use of lasers for the treatment of nevus of Ota lesions has become helpful in the management of dermal nevi. Currently, Q-switched (QS) lasers have been the most studied and demonstrated positive results for treatment of nevus of Ota. The purpose of this review article is to summarize the clinical efficacy and side effects associated with QS lasers and the treatment of nevus of Ota lesions.

  2. Kissing nevus of the penis.

    Science.gov (United States)

    Yun, Sook Jung; Wi, Hyun Seung; Lee, Jee-Bum; Kim, Seong-Jin; Won, Young Ho; Lee, Seung-Chul

    2011-11-01

    Kissing or divided nevi are similar in shape to congenital melanocytic nevi located on an adjacent part of the body that are separated during embryogenesis. Kissing nevi of the upper and lower eyelids have been reported infrequently since the first report in 1908. Kissing nevi of the penis are very rare, with only 12 cases being reported until now, and this is the first case report in the Korean dermatological literature. A previously healthy 27-year-old man presented with asymptomatic black colored patches, which were detected 10 years ago, on the glans penis and the prepuce with growth in size. We report here a case of kissing nevus of the penis, which showed an obvious mirror-image symmetry relative to the coronal sulcus.

  3. A circum-corneal conjunctival nevus in a child

    DEFF Research Database (Denmark)

    Svahn, T.F.; Heegaard, Steffen; Prause, Jan Ulrik;

    2012-01-01

    An amelanotic, circum-corneal nevus in a 2-year-old child is described. The nevus presented at birth as a red spot in the nasal conjunctiva that subsequently enlarged to completely encircle the cornea. The tumour was partially removed three times, but at the age of 6 years, the nevus still covers...

  4. Nevus

    Science.gov (United States)

    ... Uveitis Focus On Pediatric Ophthalmology Education Center Oculofacial Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center ... Uveitis Focus On Pediatric Ophthalmology Education Center Oculofacial Plastic Surgery Center Laser Surgery Education Center Redmond Ethics Center ...

  5. Kissing nevus of the penis. Report of two cases and review of the literature.

    Science.gov (United States)

    Wang, Songting; Zhou, Mingshu; Qiao, Jianjun

    2014-01-01

    Kissing nevus is a curious type of nevus that was first described on the eyelids and rarely described on the penis. We report two cases of kissing nevus of the penis and review previously reported cases. The lesions of the kissing nevus of the penis showed characteristic mirror-image symmetry relative to the coronal sulcus. On histopathology, the lesion showed a compound nevus.

  6. Gorlin’s syndrome: Atypical case report

    Directory of Open Access Journals (Sweden)

    Sanjay N. Agrawal

    2014-10-01

    Full Text Available Gorlin syndrome or basal cell nevus syndrome (BCNS is a rare autosomal dominant disorder. The condition appears to have complete penetrance and variable expressivity, which makes clinilcal presentation among families variable. All known BCNS carry mutations in PATCHED gene. A 65 years old male patient presented with complaints of characteristic skin lesions on his face, back, palms since early adulthood. The lesions were pigmented nodules with characteristic border. The histopathology showed characteristic features suggestive of Basal Cell Carcinoma (BCC. This case was atypical due to appearance of lesions quite later in life.

  7. Significance of adrenergic receptors for the development of nevus flammeus and nevus anemicus

    Energy Technology Data Exchange (ETDEWEB)

    Raff, M. (Vienna Univ. (Austria). 2. Hautklinik)

    1981-01-01

    Examination of patients with nevus flammeus or nevus anemicus showed disturbed sensibility in the area of the nevus in the majority of cases. Histologically and with special technique of histochemistry and fluorescence microscopy there was no evidence for neurogenic lesions. However, signs of vegetative disfunction were present: hyperhidrosis and absent reactivity of vasculature in the nevus area to vasoconstrictive and vasodilatatory stimuli. Based on these findings a disturbed regulation of vascular intramural adrenergic receptors seemed possible and really could be demonstrated by means of autoradiography. In both types of nevi only one of the adrenergic receptors could be marked with specific antagonists. Therefore, the persistent vascular dilatation and constriction can be accounted for by the absence of one of these receptors. This abnormal distribution of receptors could be due to a developmental defect influenced by the ''nerve growth factor''.

  8. Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    S Manjima

    2015-01-01

    Full Text Available Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

  9. Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome.

    Science.gov (United States)

    Manjima, S; Naik, Zameera; Keluskar, Vaishali; Bagewadi, Anjana

    2015-03-01

    Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

  10. Acquired, bilateral nevus of Ota-like macules (ABNOM) associated with Ota's nevus: case report.

    Science.gov (United States)

    Park, Jung Hun; Lee, Mu Hyoung

    2004-08-01

    Ota's nevus is mongolian spot-like macular blue-black or gray-brown patchy pigmentation that most commonly occurs in areas innervated by the first and second division of the trigeminal nerve. Acquired, bilateral nevus of Ota-like macules (ABNOM) is located bilaterally on the face, appears later in life, is blue-brown or slate-gray in color. It is not accompanied by macules on the ocular and mucosal membranes. There is also debate as to whether ABNOM is part of the Ota's nevus spectrum. We report an interesting case of ABNOM associated with Ota's nevus. A 36-yr-old Korean women visited our clinic with dark bluish patch on the right cheek and right conjunctiva since birth. She also had mottled brownish macules on both forehead and both lower eyelids that have developed 3 yr ago. Skin biopsy specimens taken from the right cheek and left forehead all showed scattered, bipolar or irregular melanocytes in the dermis. We diagnosed lesion on the right cheek area as Ota's nevus and those on both forehead and both lower eyelids as ABNOM by clinical and histologic findings. This case may support the view that ABNOM is a separate entity from bilateral Ota's nevus.

  11. Melanotic schwannoma arising in association with nevus of Ota: 2 cases suggesting a shared mechanism.

    Science.gov (United States)

    Trufant, Joshua W; Brenn, Thomas; Fletcher, Christopher D M; Virata, Andrew R; Cook, Deborah L; Bosenberg, Marcus W

    2009-12-01

    Melanotic schwannoma is a rare markedly pigmented peripheral nerve sheath tumor comprising cells with prominent melanization and schwannian features. The psammomatous variety is associated with Carney complex, a multiple neoplasia syndrome with spotty skin pigmentation. We present the first 2 reported cases of melanotic schwannoma arising in patients with a history of nevus of Ota, a rare dermal melanosis believed to represent a failure of melanocyte migration to the epidermis during embryogenesis. Case 1 involves a 40-year-old woman with a 1.8-cm, deeply pigmented, trigeminal nerve mass and pigmentation of the maxillary sinus mucosa and bone. Case 2 involves a 53-year-old woman with a 1.5-cm mass adjacent to the clavicle. Microscopically, both masses consist of partially encapsulated epithelioid and spindle cells with abundant melanin pigment, arising in association with peripheral nerves. Morphological, immunohistochemical, and ultrastructural features support a diagnosis of melanotic schwannoma. No psammoma bodies are noted, and neither patient exhibits any additional features of Carney complex. Melanotic schwannoma is most often benign but has been associated with malignant behavior in some cases. Distinguishing this nerve sheath tumor from malignant melanoma can be difficult but is of great clinical importance due to differences in prognosis and treatment.

  12. Nevus of Ota: clinical-ophthalmological findings

    Directory of Open Access Journals (Sweden)

    Sebastião Cronemberger

    2011-10-01

    Full Text Available OBJECTIVE: To analyze the clinical and ophthalmological findings of patients with nevus of Ota. METHODS: Retrospective analysis of patients' charts with nevus of Ota. We registered the demographic data, location of the nevus and date of appearance, family history of similar spots, biomicroscopic, gonioscopic, tonometric, ophthalmoscopic and perimetric findings. RESULTS: We included 14 patients, six (43.0% men and eight (57.0% women, with a mean age of 21.7±17.5 years. Ten (71% were mulatto, three (21.4% white and one (7.1% black. Twelve (85.7% patients presented the spots at birth and two in puberty. Nine patients presented conjunctival and episcleral pigmentation in the right eye and five in the left eye. According to Tanino's classification, five (35.7% nevi were class 1, eight (57.1% class 2 and one (7.1% class 3. Heterochromia iridis was found in eight (57.1% patients. Anisocoria was present in three (21.4% patients. Five (35.7% patients presented a suspected glaucomatous cup disc ratio (≥0.7; six (42.9% presented a cup disc ratio ≤ 0.5 and three (21.4%, no cup disc. We found two curious and remarkable findings: a nevus of Ota on the palate of one patient and other on the optic disc associated with a pigmentary mottling of the fundus in another patient. The pigmentary mottling of the fundus was also seen in four more eyes. CONCLUSIONS: The nevus of Ota was frequently present at birth, in mulattos, and classified as Tanino's class 1 and 2. Heterochromia iridis was a common finding. Anisocoria was present in a small percentage of eyes. No patient developed glaucoma or malignancy.

  13. Malignant melanoma transformation within a nevus of Ito.

    Science.gov (United States)

    Wise, Sean R; Capra, Gregory; Martin, Peter; Wallace, Donna; Miller, Charles

    2010-05-01

    The mongolian spot, nevus of Ota, and nevus of Ito are the most common morphologic forms of the dermal melanocytoses, a group of benign pigmented lesions histologically characterized by the presence of melanocytes within the dermis. Nevus of Ito is clinically distinct, presenting with unilateral, bluish gray, patchy discolorations in the skin within the distributions of the posterior supraclavicular and lateral cutaneous brachial nerves. Although all dermal melanocytoses are generally considered benign, rare cases of malignant transformation associated with nevus of Ota have been described. Only one case of malignant melanoma transformation in association with nevus of Ito has previously been reported. We present the second description of malignant melanoma transformation within a nevus of Ito and provide comment on the malignant potential of the dermal melanocytoses.

  14. Meningeal melanocytoma of Meckel's cave associated with ipsilateral Ota's nevus.

    Science.gov (United States)

    Botticelli, A R; Villani, M; Angiari, P; Peserico, L

    1983-06-15

    A case of meningeal melanocytoma of the left Meckel's cave associated with ipsilateral Ota's nevus in a 43-year-old woman, was studied by light and electron microscopy. The cells of the tumor were characterized by the presence of dendritic cytoplasmic processes, melanosomes and premelanosomes; hence, they were deemed as neoplastic melanocytes. Moreover, the tumor was lacking in histologic and ultrastructural features of pigmented meningioma, melanotic Schwannoma and primary meningeal melanoma. The prolonged clinical course was different from primary and metastatic malignant melanomas of the meninges. The best treatment appears to be radical excision, when possible; otherwise, the local or partial enucleation followed by radiation therapy has been found to be the best curative to date. On the whole, meningeal melanocytoma cannot be considered as entirely benign, given its morphologic patterns that resemble those of uveal melanoma, and its potential for recurrence. The association of this tumor with Ota's nevus is referred to as having a common origin from an arrested migration of melanoblasts at different stages.

  15. A Case of Iris Mammillation Associated with Nevus of Ota

    Directory of Open Access Journals (Sweden)

    Onur Polat

    2013-10-01

    Full Text Available Nevus of Ota is characterized by the presence of hyperpigmentation in the skin areas innervated by the first or the second branches of the trigeminal nerve. Women are affected three times as often as men. Although nevus of Ota is a congenital disorder, it can be seen in puberty or adulthood. Herein a case of nevus of Ota was reported accompanying iris heterochromia and rare iris mammillation. Because of the relationship between iris heterochromia and iris mammillation with glaucoma and especially uveal melanoma, all the patients with nevus of Ota should be monitored closely with regular ophthalmologic examination.

  16. A new classification of nevus of Ota

    Institute of Scientific and Technical Information of China (English)

    HUANG Wen-hui; WANG Hong-wei; SUN Qiu-ning; JIN Hong-zhong; LIU Yue-hua; MA Dong-lai; ZUO Ya-gang

    2013-01-01

    Background The nevus of Ota,is a common benign pigmentary dermatosis,mainly involve innervation area of first and second branch of trigeminal nerve.The classification of nevus of Ota was proposed by Tanino,based on 26 cases of nevus of Ota from 1937 to 1940.Studies about its classification are rarely seen in last 70 years,while it is still practical today.Methods Based on the clinical photographs,1079 consecutive patients with nevus of Ota were verified and reclassified according to the innervation areas of the trigeminal nerve branches.Results In these 1079 cases,866 patients were in line with Tanino's classification (80.26%),and 213 patients were not (19.74%).We put forward a new clinical classification (Peking Union Medical College Hospital classification,PUMCH classification) of nevus of Ota based on the innervation area of the trigeminal nerve branches,composed of 5 types and 14 subtypes.The 5 types were as follows:Type Ⅰ-pigmentation maculeses involving the innervation area of one of the three trigeminal nerve branches,of which there were 424 cases (39.3%),comprising 6 subtypes; Type Ⅱ-pigmentation macules involving the innervation area of two branches of the three trigeminal nerve branches,of which there were 221 cases (20.48%),comprising 4 subtypes; Type Ⅲ — pigmentation macules involving the innervation area of all three trigeminal nerve branches,of which there were 361 cases (33.45%),comprising 2 subtypes; Type Ⅳ-bilateral type,in which the pigmentation macules involves the bilateral cheek,of which there were 63 cases (5.84%),comprising 2 subtypes; and Type Ⅴ-complications occurred in the patient,of which there were 10 cases (0.93%).Conclusion The new classification of nevus of Ota is based on the innervation area of the trigeminal nerve branches,and it covers all types of Tanino's classifications; on that basis,some new types and subtypes are brought in and cover almost every clinical condition.

  17. Early recognition of basal cell naevus syndrome

    NARCIS (Netherlands)

    Veenstra-Knol, HE; Scheewe, JH; van der Vlist, GJ; van Doorn, ME; Ausems, MGEM

    2005-01-01

    The basal cell naevus syndrome is an autosomal dominant syndrome characterised by major manifestations such as basal cell carcinomas, jaw cysts, palmar or plantar pits, and intracranial calcifications. Early recognition is important in order to reduce morbidity due to cutaneous and cerebral malignan

  18. A clinician′s dilemma: Sturge-Weber syndrome ′without facial nevus′!!

    Directory of Open Access Journals (Sweden)

    Sujit A Jagtap

    2013-01-01

    Full Text Available Sturge-Weber syndrome (SWS is a rare, sporadic neurocutaneous syndrome characterized by a classical triad of facial port wine nevus, ipsilateral leptomeningeal angiomatosis (LAM and glaucoma. The incidence of SWS is 1/50,000 live births, although it is more often underreported. The incidence of SWS without facial nevus is not known, although very few patients without facial nevus have been reported. In these patients, the diagnosis of SWS is made by the findings of computed tomography, magnetic resonance imaging, and histopathology. Here, we report three patients with SWS from our cohort of 28 patients with SWS without facial nevus and discuss their clinical profile and outcome.

  19. Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome

    Directory of Open Access Journals (Sweden)

    N K Kiran

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS, is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by odontogenic keratocysts in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the odontogenic keratocysts are usually one of the first manifestations of the syndrome. This case report presents a patient diagnosed as NBCCS by clinical, radiographic and histological findings in a 13-year-old boy. This paper highlights the importance of early diagnosis of NBCCS which can help in preventive multidisciplinary approach to provide a better prognosis for the patient.

  20. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  1. Late-onset Ito's nevus: an uncommon acquired dermal melanocytosis.

    Science.gov (United States)

    Mataix, Javier; López, Norberto; Haro, Rosario; González, Elena; Angulo, Jorge; Requena, Luis

    2007-08-01

    Dermal melanocytoses comprise a variety of congenital and acquired conditions characterized by a sparse population of intradermal dendritic, variably pigmented, spindle-shaped melanocytes. While Mongolian spot, Ota's and Ito's nevi are usually present at birth or appear around puberty; acquired dermal melanocytoses that appear in adult life are extremely rare. They include the facial lesions of acquired bilateral nevus of Ota-like macules, also named Hori's nevus, and the acquired unilateral nevus of Ota, also known as Sun's nevus. Uncommon extrafacial examples of acquired dermal melanocytoses include lesions involving upper extremities, wrist, back, lower extremities and dorsal aspects of the hands and feet. They are more prevalent among Asian women. In general, dermal melanocytoses are rare lesions in Caucasian patients and acquired variants are exceedingly uncommon. We report a rare example of acquired Ito's nevus that appeared in a Caucasian elderly woman and review the literature about acquired dermal melanocytoses.

  2. Nevus depigmentosus treated by melanocyte-keratinocyte transplantation

    Directory of Open Access Journals (Sweden)

    Sanjeev V Mulekar

    2011-01-01

    Full Text Available Background : Nevus depigmentosus is a congenital, nonprogressive hypopigmented disorder. Various therapeutic methods have been attempted to repigment nevus with variable results. Objective : The objective of this study is to report our experience of treatment of nevus depigmentosus with a combination of noncultured melanocyte-keratinocyte transplantation (MKTP and excimer laser sessions. Materials and Methods : Six patients (male 1, female 5 of nevus depigmentosus were treated with a combination of noncultured melanocyte-keratinocyte transplantation and excimer laser. One patient was lost to follow-up. Remaining five patients were observed for a period ranging from 7 to 30 months. Results : Two patients responded poorly to MKTP. The remaining three patients responded with repigmentation ranging from 80% to 100% but the quality of repigmentation was unsatisfactory in two of them. Conclusion : Though repigmentation of nevus depigmentosus is possible by grafting techniques, the results are inconsistent and recurrence is possible.

  3. A Case of Epidermal Nervous Syndrome with a Novel Association of Congenital Cystic Dysplastic Kidney with Numerous Nephroblastic Proliferations

    Science.gov (United States)

    2016-04-19

    Epidermal nevus syndrome is a broad term encompassing several disease processes. These entities are united by their association with epidermal nevi...and extracutaneous abnormalities. Renal aberrancies associated with this syndrome include nephroblastoma, hamartomas, hypoplasia, and renal agenesis...However, there are no well-described, documented cases of dysplastic kidney with cystic nephroblastic proliferation associated with epidermal nevus

  4. Oral Congenital Melanocytic Nevus: A Rare Case Report and Review of the Literature.

    Science.gov (United States)

    Marangon Júnior, Helvécio; Souza, Paulo Eduardo Alencar; Soares, Rodrigo Villamarim; de Andrade, Bruno Augusto Benevenuto; de Almeida, Oslei Paes; Horta, Martinho Campolina Rebello

    2015-12-01

    Melanocytic nevi are congenital or acquired benign proliferations of cells of melanocytic origin. Oral congenital melanocytic nevi are rare, and only a few cases have been reported in the literature. The purpose of this study is to present the clinical, histological and immunohistochemical features of an oral congenital melanocytic nevus in a 16-year-old female with an 11-year follow-up and to review the pertinent literature. The reported case is the fifth well-documented case report of oral congenital melanocytic nevus in the English literature and the first with a long period of follow-up, thereby making it an important contribution to the knowledge regarding this uncommon oral mucosa lesion.

  5. Unilateral Nevus of Ota with Bilateral Nevus of Ito and Palatal Lesion: A Case Report with a Proposed Clinical Modification of Tanino's Classification.

    Science.gov (United States)

    Mukhopadhyay, Amiya Kumar

    2013-07-01

    Nevus of Ota and nevus of Ito are rare dermal melanocytoses. Nevus of Ota may be very rarely associated with the nevus of Ito and other extra cutaneous features. Both nevi are similar in all respect apart from the area of distribution. Bilateral distribution of nevus of Ito is seldom reported in the literature. A 24-year-old male patient reported with nevus of Ota of the right side of his face since his infancy and nevus of Ito on both shoulder regions since early childhood. He had bluish lesions on the right side of his hard palate. Systemic examination was normal. Relevant laboratory investigations were non contributory. The histopathological examination of the skin from the affected areas showed the presence of elongated dendritic dermal melanocytes. The present case is the first report of an association of bilateral nevus of Ito with nevus of Ota and palatal lesions. Tanino classified Nevus of Ota into four groups. As both the nevi are similar in all respect except the area of distribution, a minor modification of the existing Tanino's classification to incorporate the nevus of Ito into the classification for the Ota's nevus may be appropriate.

  6. Unilateral nevus of ota with bilateral nevus of Ito and palatal lesion: A case report with a proposed clinical modification of tanino′s classification

    Directory of Open Access Journals (Sweden)

    Amiya Kumar Mukhopadhyay

    2013-01-01

    Full Text Available Nevus of Ota and nevus of Ito are rare dermal melanocytoses. Nevus of Ota may be very rarely associated with the nevus of Ito and other extra cutaneous features. Both nevi are similar in all respect apart from the area of distribution. Bilateral distribution of nevus of Ito is seldom reported in the literature. A 24-year-old male patient reported with nevus of Ota of the right side of his face since his infancy and nevus of Ito on both shoulder regions since early childhood. He had bluish lesions on the right side of his hard palate. Systemic examination was normal. Relevant laboratory investigations were non contributory. The histopathological examination of the skin from the affected areas showed the presence of elongated dendritic dermal melanocytes. The present case is the first report of an association of bilateral nevus of Ito with nevus of Ota and palatal lesions. Tanino classified Nevus of Ota into four groups. As both the nevi are similar in all respect except the area of distribution, a minor modification of the existing Tanino′s classification to incorporate the nevus of Ito into the classification for the Ota′s nevus may be appropriate.

  7. Unilateral Nevus of Ota with Bilateral Nevus of Ito and Palatal Lesion: A Case Report with a Proposed Clinical Modification of Tanino's Classification

    Science.gov (United States)

    Mukhopadhyay, Amiya Kumar

    2013-01-01

    Nevus of Ota and nevus of Ito are rare dermal melanocytoses. Nevus of Ota may be very rarely associated with the nevus of Ito and other extra cutaneous features. Both nevi are similar in all respect apart from the area of distribution. Bilateral distribution of nevus of Ito is seldom reported in the literature. A 24-year-old male patient reported with nevus of Ota of the right side of his face since his infancy and nevus of Ito on both shoulder regions since early childhood. He had bluish lesions on the right side of his hard palate. Systemic examination was normal. Relevant laboratory investigations were non contributory. The histopathological examination of the skin from the affected areas showed the presence of elongated dendritic dermal melanocytes. The present case is the first report of an association of bilateral nevus of Ito with nevus of Ota and palatal lesions. Tanino classified Nevus of Ota into four groups. As both the nevi are similar in all respect except the area of distribution, a minor modification of the existing Tanino's classification to incorporate the nevus of Ito into the classification for the Ota's nevus may be appropriate. PMID:23918999

  8. Modeling Rett Syndrome with Stem Cells

    OpenAIRE

    Walsh, Ryan M.; Hochedlinger, Konrad

    2010-01-01

    The discovery that somatic cells can be reprogrammed into induced pluripotent stem cells (iPSCs) raised the exciting possibility of modeling diseases with patient-specific cells. Marchetto et al. (2010) now use iPSC technology to generate, characterize, and treat an in vitro model for the autism spectrum disorder, Rett syndrome.

  9. Sturge-Weber syndrome: a case report and review of literatures

    Institute of Scientific and Technical Information of China (English)

    ZHOU Jing; LI Nan-yun; ZHOU Xiao-jun; WANG Jian-dong; MA Heng-hui; ZHANG Ru-song

    2010-01-01

    @@ Sturge-Weber syndrome (SWS), or encephalotrigeminal angiomatosis, is a rare, congenital neurocutaneous syndrome characterized by unilateral facial cutaneous vascular malformation (nevus flammeus or port-wine stain) in association with ipsilateral leptomeningeal angiomatosis.

  10. Bilateral Ota nevus in a 15 years old patient

    Directory of Open Access Journals (Sweden)

    Savaş Öztürk

    2013-12-01

    Full Text Available Nevus of Ota is a dermal melanocytosis, clinically localizedon skin that is innervated by the first and secondbranches of the trigeminal nerve. It occurs almost entirelyin Asian people. The clinical manifestations are usuallyunilateral; only 5% of cases are bilateral. In this article,due to rarity of the case, a 15-year-old patient, who was diagnosedwith bilateral ota nevus, without having any dermatologicalcomplaints other than cosmetic appearenceand stains in her eyes and around was presented.Key words: Bilateral ota nevus, child, melanocytosis

  11. Comparison of characteristics of acquired bilateral nevus of Ota-like macules and nevus of Ota according to therapeutic outcome.

    Science.gov (United States)

    Lee, Bangjin; Kim, You Chan; Kang, Won Hyoung; Lee, Eun-So

    2004-08-01

    Both acquired bilateral nevus of Ota-like macules (ABNOM) and nevus of Ota are characterized by the presence of dermal melanocytes. There are no differences in the method of treatment, however, postinflammatory hyperpigmentation (PIH) develops more often in ABNOM than in nevus of Ota following treatment. We investigated the differences in the development of PIH after treatment between ABNOM and nevus of Ota, and the histopathologic differences in the PIH. A total of 82 patients with ABNOM (n=47) and nevus of Ota (n=35) were treated with Q-switched alexandrite laser and followed up 2 weeks and 3 months later. Biopsies were performed on lesional skin before treatment. The distribution and the amount of melanin pigments were visualized with Fontana-Masson stain, and the distribution and the depth of melanocytes were measured by GP-100 (NK1-beteb) stain. Clinically, there was more erythema and PIH in ABNOM than in nevus of Ota. Histopathologically, intradermal melanocytes were clustered in groups and dispersed perivascularly in ABNOM, while melanocytes were scattered evenly throughout the dermis in nevus of Ota. Both groups show that when there is a statistically significant number of melanocytes in the perivascular area, erythema and PIH occur after laser therapy. In conclusion, indirect vessel injury in addition to perivascular clustering melanocytes might be considered the cause of increased PIH after treatment in ABNOM.

  12. Cellular Blue Nevus Diagnosed following Excision of Melanoma: A Challenge in Diagnosis

    Directory of Open Access Journals (Sweden)

    Nives Jonjić

    2016-01-01

    Full Text Available A case of a 41-year-old woman with a history of nodular melanoma (NM, associated with an indurated dome-shaped blue-black nodule with a diameter of 1.2 cm in the gluteal region, is presented. Clinical diagnosis of the lesion, present from birth, was blue nevus. Recently, the nodule has been showing a mild enlargement and thus complete resection was performed. Histological analysis revealed a pigmented lesion with an expansive pattern of extension into the dermis and the subcutaneous adipose tissue. The lesion displayed an alveolar pattern as well as a pigmented dendritic cell pattern. The histology was consistent with cellular blue nevus (CBN; however, the history of NM which was excised one year earlier, as well as the clinical information about the slow growing lesion, included a differential diagnosis of CBN, borderline melanocytic tumor, and malignant blue nevus. Additional immunohistochemical (HMB-45, p16, and Ki-67 and molecular (BRAF V600E mutation analyses were performed on both lesions: the CBN-like and the previously excised NM. Along with lesion history and histological analyses, p16 staining and BRAF were useful diagnostic tools for confirming the benign nature of CBN in this case.

  13. Becker nevus with vitiligo and lichen planus: Cocktail of dermatoses

    Directory of Open Access Journals (Sweden)

    Sanjeev Gupta

    2010-07-01

    Full Text Available Context: Becker nevus has been reported to be associated with lichen planus (LP in isolated case reports in past. The association of LP and vitiligo has been noted in few cases and has been attributed to a common autoimmune etiology. The coexistence of lichen planus, vitiligo and Becker nevus has not been reported so far. Case Report: A thirty five years old male presented with lesions of Becker nevus along with vitiligo and Lichen planus coexisting at one place on right side of the chest. Vitiligo and Becker nevus could not be treated. Lichen planus was confirmed histopathologically. We were able to treat lichen planus with topical potent steroids, tacrolimus and systemic antihistamines. The vitiligo lesion in our case was resistant to treatment. Conclusion: This case is being reported for the rare occurrence of three different well defined skin conditions in our patient and reviews the possible known etiological factors for their coexistence.

  14. Nevus of Ota: A series of 15 cases

    Directory of Open Access Journals (Sweden)

    Sekar Shanmuga

    2008-01-01

    Full Text Available Background: The nevus of Ota is a dermal nevus characterized by bluish pigmentation in the distribution of the first and the second division of the trigeminal nerve. Aim: Our aim was to study the cutaneous and extracutaneous manifestations of the nevus of Ota. Methods: A total of 15 cases were included in our study. A detailed history, clinical examination along with direct ophthalmoscopy and otoscopy were done for all the cases. Results: Most of the patients (60% had lesions at birth and the majority (86.7 % were females. Five (33.3% patients belonged to Tanino class II. Combined dermal and ocular involvement was observed in 60% of the cases. Conclusion: Tanino class II was the most common type observed in our studies. A few rarer associations such as nevus of Ito and hemangioma were also noted in our patients.

  15. Intradermal melanocytic nevus of the external auditory canal.

    Science.gov (United States)

    Alves, Renato V; Brandão, Fabiano H; Aquino, José E P; Carvalho, Maria R M S; Giancoli, Suzana M; Younes, Eduado A P

    2005-01-01

    Intradermal nevi are common benign pigmented skin tumors. Their occurrence within the external auditory canal is uncommon. The clinical and pathologic features of an intradermal nevus arising within the external auditory canal are presented, and the literature reviewed.

  16. Psychological Challenges Associated with Congenital Melanocytic Nevus (CMN)

    Science.gov (United States)

    ... nevus may suffer from anxiety, depression or a self-esteem deficiency. Children with large nevi may act out ... resources for connecting with others via email lists, Facebook and in-person. There is a massive amount ...

  17. Multiple keratocysts of the mandible in association with Gorlin-Goltz syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Gayithri Harish Kulkarni

    2014-01-01

    Full Text Available Nevoid basal cell carcinoma syndrome is a syndrome with wide variety of manifestations ranging from oral lesions to skeletal deformities. It calls for due responsibility of maxillofacial surgeon to diagnose the syndrome because very often they are the first health professionals to see the patient for the treatment of keratocystic odontogenic tumor. Keratocystic odontogenic tumor has been the topic of numerous investigators, is known for its potentially aggressive behavior, significant rate of recurrences. KCOT often occurs as a solitary lesion, in some instances multiple keratocysts may occur in association with a syndrome called Gorlin-Goltz syndrome (nevoid BCC, jaw cyst bifid rib basal cell nevus syndrome. Here, we present a case of multiple keratocysts in the mandible in association with skeletal, ocular, cutaneous anomalies in the given clinical scenario, which has profound relevance in the clinical dental practice.

  18. Multiple keratocysts of the mandible in association with Gorlin-Goltz syndrome: A rare case report.

    Science.gov (United States)

    Kulkarni, Gayithri Harish; Khaji, Shahanavaj I; Metkari, Suryakant; Kulkarni, Harish S; Kulkarni, Reshma

    2014-07-01

    Nevoid basal cell carcinoma syndrome is a syndrome with wide variety of manifestations ranging from oral lesions to skeletal deformities. It calls for due responsibility of maxillofacial surgeon to diagnose the syndrome because very often they are the first health professionals to see the patient for the treatment of keratocystic odontogenic tumor. Keratocystic odontogenic tumor has been the topic of numerous investigators, is known for its potentially aggressive behavior, significant rate of recurrences. KCOT often occurs as a solitary lesion, in some instances multiple keratocysts may occur in association with a syndrome called Gorlin-Goltz syndrome (nevoid BCC, jaw cyst bifid rib basal cell nevus syndrome). Here, we present a case of multiple keratocysts in the mandible in association with skeletal, ocular, cutaneous anomalies in the given clinical scenario, which has profound relevance in the clinical dental practice.

  19. Spitz Nevus on the Earlobe Mimicking Cutaneous Leishmaniasis

    Directory of Open Access Journals (Sweden)

    İbrahim Özmen

    2010-06-01

    Full Text Available Spitz nevus is a benign, usually acquired melanocytic tumor which is seen especially in children and adolescents. It usually appears as a pink or light-brown, smooth-surfaced, well-circumscribed and asymptomatic papulonodular lesion. A large group of dermatologic disorders should be considered in the differential diagnosis. Herein we present a case of Spitz nevus with a two month history of a nodular lesion on the earlobe which mimicks cutaneous leishmaniasis clinically.

  20. Intracranial meningeal melanocytoma associated with nevus of Ota.

    Science.gov (United States)

    Pan, Hao; Wang, Handong; Fan, Youwu

    2011-11-01

    We report a rare intracranial meningeal melanocytoma associated with the nevus of Ota. The patient was 36-year-old man with a 2-week history of headache and difficulty in opening his right eye. Physical examination showed a black nevus scattered on the right-hand side of the face, right eyelid ptosis and papilledema. CT scans and MRI showed a tumor in the region of the right cavernous sinus. The tumor was subtotally resected. Histological examination confirmed the diagnosis of melanocytoma.

  1. Nevus of Ota”- A Rare Pigmentation Disorder with Intraoral Findings

    Science.gov (United States)

    Gupta, Sarika; Sharma, Nisha; Singh, Meenakshi; Bhateja, Sumit

    2014-01-01

    Nevus of Ota is a dermal melanocytosis seen along the distribution of ophthalmic and maxillary divisions of the trigeminal nerve. Only 12 cases so far have been reported in English literature and it is rare in Indian subcontinent. Most of the cases reported are in females and oral cavity is infrequently involved. Here, we report a rare case of unilateral Nevus of Ota in a 56-year-old male with oral manifestations. PMID:25302286

  2. Woolly-hair nevus: report of a case associated with a verrucous epidermal nevus in the same area.

    Science.gov (United States)

    Peteiro, C; Oliva, N P; Zulaica, A; Toribio, J

    1989-09-01

    We cared for a patient with woolly-hair nevus (WHN) with hair of reduced diameter seen as oval shaped on transverse section. Scanning electron microscopy revealed a longitudinal canal along the length of the hair shaft. Although the association of WHN and epidermal nevus has been described previously, this report of their localization in the same site is, to our knowledge, the first in the literature.

  3. Clinicopathologic Analysis on Endocervical Blue Nevus%宫颈蓝痣的临床病理分析

    Institute of Scientific and Technical Information of China (English)

    宋新兰; 付娟娟

    2015-01-01

    目的:探讨宫颈蓝痣的临床病理特点。方法收集2009年—2014年病理诊断为蓝痣的病例29例,从中筛选出皮肤以外的蓝痣10例,进行光镜观察。结果10例皮肤外蓝痣均位于宫颈管下段,呈黑褐色斑块状,界限较清,粘膜光滑,未见明显凸起。光镜:宫颈管粘膜下间质浅层可见较多痣细胞散在及灶状分布,胞浆内充满棕褐色粗颗粒。结论蓝痣是一种罕见的良性的黑色素增生性病变,皮肤以外的病例大部分发生在宫颈。%Objective The purpose of this study is to explore the clinical and pathological features of the blue nevus of the uterine cervix. Methods Collected 29 cases of blue nevus pathological diagnosed from 2009 to 2014, 10 cases of extracutaneous blue nevus were screened out. Results 10 cases of extracutaneous blue nevi are located in the lower section of cervical canal, dark brown plaque, was clear boundaries, mucosal smooth, no obvious bulge. Light microscopy:In cervical mucous interstitial shallow , we can see more nevus cells scattered and spotty distribution, full brown coarse particles in the cytoplasm. Conclusion Blue nevus is a rare benign proliferative lesions of melanin, the majority of extracutaneous cases occurred in the cervix.

  4. Tuberous sclerosis with bilateral renal cell carcinoma in a child: A case report

    OpenAIRE

    Sanjay Choudhuri; Jeevanjyoti Mishra; Gyan Prakash Singh; Datteswar Hota

    2015-01-01

    Tuberous sclerosis complex (TCS) is an autosomal dominant disease which comes under a group of diseases known as neurocutaneous syndrome. Incidence of TCS is around 1 in 6000. The clinical triad of papular facial nevus, seizures and mental retardation is found in less than 50% of the patients. Renal lesions in TCS commonly consist of simple renal cyst and angiomyolipomas. Renal cell carcinoma though rarely associated with tuberous sclerosis may be its significant manifestations. We report a c...

  5. Mast cell activation syndromes presenting as anaphylaxis.

    Science.gov (United States)

    Akin, Cem

    2015-05-01

    Anaphylaxis results from severe systemic mast cell activation. In addition to IgE-mediated and physical triggers, it may occur with a clonal mast cell disease and in an idiopathic fashion without clear provoking factors. Disorders of mast cell activation are classified into primary (clonal), secondary, and idiopathic. Mast cell activation syndrome (MCAS) is a multisystem disorder characterized by objective documentation of elevated mast cell mediators during attacks and a favorable response to antimediator therapy. It should be considered in the differential diagnosis of patients presenting with recurrent anaphylaxis without a clear cause. This article discusses the diagnosis of MCAS.

  6. Autoimmune Lymphoproliferative Syndrome with Red Cell Aplasia.

    Science.gov (United States)

    Meena, K R; Bisht, Supriya; Tamaria, K C

    2015-12-01

    Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare inherited disorder of abnormal lymphocyte apoptosis, leading to chronic lymphoproliferation. It presents as lymphadenopathy, hepatosplenomegaly and autoimmune phenomena. Pure red cell aplasia is characterized by normochromic normocytic anemia, reticulocytopenia, and absence of erythroblasts from a normal bone marrow. Only few lymphoproliferative disorders have been associated with erythroid aplasia. The authors are reporting a case of ALPS associated with red cell aplasia in a 7-y-old girl.

  7. Nevus of ota with rare palatal involvement: a case report with emphasis on differential diagnosis.

    Science.gov (United States)

    Sharma, Gaurav; Nagpal, Archna

    2011-01-01

    Nevus of Ota, a dermal melanocytic nevus, is rare in the Indian subcontinent. It presents as a brown, blue, or gray patch on the face and is within the distribution of the ophthalmic and maxillary branches of the trigeminal nerve. The oral cavity is infrequently involved in nevus of Ota. Only 11 cases have been documented in the English literature. We report a rare case of intraoral nevus of Ota in a 22-year-old male patient. This paper focuses on the differential diagnosis of oral manifestations of nevus of Ota to assist in proper followup to avert malignant transformation.

  8. Nevus of Ota with Rare Palatal Involvement: A Case Report with Emphasis on Differential Diagnosis

    Directory of Open Access Journals (Sweden)

    Gaurav Sharma

    2011-01-01

    Full Text Available Nevus of Ota, a dermal melanocytic nevus, is rare in the Indian subcontinent. It presents as a brown, blue, or gray patch on the face and is within the distribution of the ophthalmic and maxillary branches of the trigeminal nerve. The oral cavity is infrequently involved in nevus of Ota. Only 11 cases have been documented in the English literature. We report a rare case of intraoral nevus of Ota in a 22-year-old male patient. This paper focuses on the differential diagnosis of oral manifestations of nevus of Ota to assist in proper followup to avert malignant transformation.

  9. Acquired bilateral nevus of ota-like macules with Mucosal involvement: A new variant of Hori′s nevus

    Directory of Open Access Journals (Sweden)

    Ramesh M Bhat

    2014-01-01

    Full Text Available Acquired bilateral nevus of Ota-like macules (ABNOM or Hori′s nevus, a rare form of acquired dermal melanocytoses, presents as bilateral facial blue-gray macules without ocular or mucosal involvement. This condition is mostly found in women of Asian descent and usually appears in the fourth or fifth decade of life. Pathogenesis is unknown, though few theories have been proposed. Effective treatment has been found to be achieved with pigment-specific lasers. Herein, we report a case of Hori′s nevus with mucosal involvement. A 42-year-old male patient, presented to us with blue-gray discoloration on either side of his face, both eyes, and in the mouth since the age of one year. Histopathological examination showed clusters and singly dispersed pigmented melanocytes within the upper and mid-dermis regions. Special staining of melanocytes using Masson-Fontana stain was positive. Diagnosis of Hori′s nevus was made by correlating clinical and histopathological findings. Patient was informed of his treatment options, but refused treatment. A similar case of Hori′s nevus with mucosal involvement has not been reported so far.

  10. Acquired Bilateral Nevus of ota-like Macules with Mucosal Involvement: A New Variant of Hori's Nevus.

    Science.gov (United States)

    Bhat, Ramesh M; Pinto, Hyacinth Peter; Dandekeri, Sukumar; Ambil, Srinath Madapally

    2014-05-01

    Acquired bilateral nevus of Ota-like macules (ABNOM) or Hori's nevus, a rare form of acquired dermal melanocytoses, presents as bilateral facial blue-gray macules without ocular or mucosal involvement. This condition is mostly found in women of Asian descent and usually appears in the fourth or fifth decade of life. Pathogenesis is unknown, though few theories have been proposed. Effective treatment has been found to be achieved with pigment-specific lasers. Herein, we report a case of Hori's nevus with mucosal involvement. A 42-year-old male patient, presented to us with blue-gray discoloration on either side of his face, both eyes, and in the mouth since the age of one year. Histopathological examination showed clusters and singly dispersed pigmented melanocytes within the upper and mid-dermis regions. Special staining of melanocytes using Masson-Fontana stain was positive. Diagnosis of Hori's nevus was made by correlating clinical and histopathological findings. Patient was informed of his treatment options, but refused treatment. A similar case of Hori's nevus with mucosal involvement has not been reported so far.

  11. Tumores en colisión: quiste velloso eruptivo y nevus melanocítico congénito Collision tumors: eruptive villous cyst and congenital melanocytic nevus

    Directory of Open Access Journals (Sweden)

    N E Driban

    2009-06-01

    Full Text Available Presentamos dos casos de un tumor en colisión, de quistes vellosos con nevus melanocíticos congénitos, comentando en forma breve, aquellas características de asociación entre quistes y nevus melanocíticos, con diferentes patologías en coexistencia tumoral.We presented two cases of a collision tumor, of a villous cyst within a congenital melanocytic nevus. We made short comments about those characteristics of the association of cysts and melanocytic nevus with different pathologies with tumoral coexistence.

  12. Bilateral type of nevus of Ota presenting as agminated lentigines.

    Science.gov (United States)

    Kang, Hee Young; Kang, Won Hyoung

    2003-01-01

    We report a 30-year-old female patient with a history of hyperpigmented macules of the face since the age of 7 years. The clinical appearance, brown macules in multiple segmental or grouped patterns, was suggested to be agminated lentigines. However, histologic examination of the pigmented macule revealed scattered melanocytes within the dermis. We diagnosed this lesion as a bilateral type of nevus of Ota presenting as agminated lentigines. The differential diagnosis from acquired bilateral nevus of Ota-like macules was made.

  13. Could Metabolic Syndrome, Lipodystrophy, and Aging Be Mesenchymal Stem Cell Exhaustion Syndromes?

    Directory of Open Access Journals (Sweden)

    Eduardo Mansilla

    2011-01-01

    Full Text Available One of the most important and complex diseases of modern society is metabolic syndrome. This syndrome has not been completely understood, and therefore an effective treatment is not available yet. We propose a possible stem cell mechanism involved in the development of metabolic syndrome. This way of thinking lets us consider also other significant pathologies that could have similar etiopathogenic pathways, like lipodystrophic syndromes, progeria, and aging. All these clinical situations could be the consequence of a progressive and persistent stem cell exhaustion syndrome (SCES. The main outcome of this SCES would be an irreversible loss of the effective regenerative mesenchymal stem cells (MSCs pools. In this way, the normal repairing capacities of the organism could become inefficient. Our point of view could open the possibility for a new strategy of treatment in metabolic syndrome, lipodystrophic syndromes, progeria, and even aging: stem cell therapies.

  14. Abdominal vascular syndromes: characteristic imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D' Ippolito, Giuseppe, E-mail: leandrocleite@gmail.com [Universidade Federal de Sao Paulo (EPM/UNIFESP), Sao Paulo, SP (Brazil). Escola Paulista de Mediciana. Departmento de Diagnostico por Imagem

    2016-07-15

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

  15. Choroidal neovascularization secondary to choroidal nevus simulating an inflammatory lesion

    Directory of Open Access Journals (Sweden)

    Samuray Tuncer

    2013-01-01

    Full Text Available Choroidal nevi are the most common benign pigmented lesions of the fundus. Choroidal neovascularization is a rare complication of choroidal nevi. We report herein a young patient managed successfully with intravitreal bevacizumab injections for juxtapapillary choroidal neovascularization secondary to choroidal nevus simulating an inflammatory lesion.

  16. Pigment reduction in nevus of Ota following leech therapy

    Science.gov (United States)

    Rastogi, Sanjeev; Chaudhari, Priyanka

    2014-01-01

    Nevus of Ota is a congenital blue-gray color nevus afflicting unilaterally, the area near the eyes. It poses a huge cosmetic concern besides being a potential threat for developing melanoma sometime in the course of the disease. The treatment options are neither many nor promising besides they are too expensive. We have treated a case of nevus of Ota with leech therapy where leech was applied upon the lesion for five times spanned in a period of 2 months. The results in terms of change in the color of lesion were evaluated with the help of serial photographs following every treatment session to mark the level of color changes in the lesion. A substantial reduction in color of the nevus was reported following the completion of the therapy. The results were demonstrated with the photographs. Although, recommended as the classical Ayurvedic management for skin diseases, leech therapy is not reported earlier in such conditions. It proposes a novel approach to deal with such congenital pigment lesions where other options are not promising. PMID:24948864

  17. Bilateral nevus of ota with oral mucosal involvement

    Directory of Open Access Journals (Sweden)

    Rathi Sanjay

    2002-01-01

    Full Text Available A 30-year-old female presented with asymptomatic slate brown hyperpigmented diffuse macules on both the cheeks, nose, forehead, eyelids, sclera, conjunctiva and hard palate since early childhood. Nevus of Ota, are in Indian subcontinent, commonly occurs unilaterally on face. This case is being reported for its rarity and extensive involvement.

  18. Pigment reduction in nevus of Ota following leech therapy

    Directory of Open Access Journals (Sweden)

    Sanjeev Rastogi

    2014-01-01

    Full Text Available Nevus of Ota is a congenital blue-gray color nevus afflicting unilaterally, the area near the eyes. It poses a huge cosmetic concern besides being a potential threat for developing melanoma sometime in the course of the disease. The treatment options are neither many nor promising besides they are too expensive. We have treated a case of nevus of Ota with leech therapy where leech was applied upon the lesion for five times spanned in a period of 2 months. The results in terms of change in the color of lesion were evaluated with the help of serial photographs following every treatment session to mark the level of color changes in the lesion. A substantial reduction in color of the nevus was reported following the completion of the therapy. The results were demonstrated with the photographs. Although, recommended as the classical Ayurvedic management for skin diseases, leech therapy is not reported earlier in such conditions. It proposes a novel approach to deal with such congenital pigment lesions where other options are not promising.

  19. Pigment reduction in nevus of Ota following leech therapy.

    Science.gov (United States)

    Rastogi, Sanjeev; Chaudhari, Priyanka

    2014-04-01

    Nevus of Ota is a congenital blue-gray color nevus afflicting unilaterally, the area near the eyes. It poses a huge cosmetic concern besides being a potential threat for developing melanoma sometime in the course of the disease. The treatment options are neither many nor promising besides they are too expensive. We have treated a case of nevus of Ota with leech therapy where leech was applied upon the lesion for five times spanned in a period of 2 months. The results in terms of change in the color of lesion were evaluated with the help of serial photographs following every treatment session to mark the level of color changes in the lesion. A substantial reduction in color of the nevus was reported following the completion of the therapy. The results were demonstrated with the photographs. Although, recommended as the classical Ayurvedic management for skin diseases, leech therapy is not reported earlier in such conditions. It proposes a novel approach to deal with such congenital pigment lesions where other options are not promising.

  20. Phacomatosis cesioflammea with Klippel Trenaunay syndrome: A rare association

    Science.gov (United States)

    Garg, Anubhav; Gupta, Lalit K.; Khare, A. K.; Kuldeep, C. M.; Mittal, Asit; Mehta, Sharad

    2013-01-01

    A 30-year-old Indian male presented with bilateral Nevus of Ota, extensive nevus flammeus over the trunk and left lower limb with soft tissue hypertrophy and varicosities affecting the left lower limb. He was otherwise in good general health. A diagnosis of Phacomatosis cesioflammea or Phacomatosis pigmentovasularis Type II with Klippel Trenaunay syndrome was made. The case is being reported on account of its rarity. PMID:23984239

  1. Phacomatosis cesioflammea with Klippel Trenaunay syndrome: A rare association

    Directory of Open Access Journals (Sweden)

    Anubhav Garg

    2013-01-01

    Full Text Available A 30-year-old Indian male presented with bilateral Nevus of Ota, extensive nevus flammeus over the trunk and left lower limb with soft tissue hypertrophy and varicosities affecting the left lower limb. He was otherwise in good general health. A diagnosis of Phacomatosis cesioflammea or Phacomatosis pigmentovasularis Type II with Klippel Trenaunay syndrome was made. The case is being reported on account of its rarity.

  2. Rectal blue nevus: Case report of a rare entity and literature review.

    Science.gov (United States)

    Makker, Jasbir; Sakam, Sailaja; Arety, Prasanthi; Niazi, Masooma; Balar, Bhavna

    2015-08-01

    Blue nevus, a pigmented skin lesion, affects the dermal melanocytes that are rich in melanin. Its occurrence on skin has been well described in literature. Less commonly, involvement of mucosal surfaces especially genitourinary tract has also been noticed. Here we present a rare case of a blue nevus involving the rectum. So far there has been only one prior description of the blue nevus involving the gastrointestinal mucosa. Differentiation of this lesion from melanoma is the key. Simple excision of the blue nevus with a biopsy forceps during the colonoscopy is an effective management.

  3. Epigenetic Dysfunction in Turner Syndrome Immune Cells.

    Science.gov (United States)

    Thrasher, Bradly J; Hong, Lee Kyung; Whitmire, Jason K; Su, Maureen A

    2016-05-01

    Turner syndrome (TS) is a chromosomal condition associated with partial or complete absence of the X chromosome that involves characteristic findings in multiple organ systems. In addition to well-known clinical characteristics such as short stature and gonadal failure, TS is also associated with T cell immune alterations and chronic otitis media, suggestive of a possible immune deficiency. Recently, ubiquitously transcribed tetratricopeptide repeat on the X chromosome (UTX), a histone H3 lysine 27 (H3K27) demethylase, has been identified as a downregulated gene in TS immune cells. Importantly, UTX is an X-linked gene that escapes X-chromosome inactivation and thus is haploinsufficient in TS. Mice with T cell-specific UTX deficiency have impaired clearance of chronic viral infection due to decreased frequencies of T follicular helper (Tfh) cells, which are critical for B cell antibody generation. In parallel, TS patients have decreased Tfh frequencies in peripheral blood. Together, these findings suggest that haploinsufficiency of the X-linked UTX gene in TS T cells underlies an immune deficit, which may manifest as increased predisposition to chronic otitis media.

  4. Amniotic Fluid Cells Proliferation in Normal and Down Syndrome Subjects

    Directory of Open Access Journals (Sweden)

    Honcea Adina

    2016-02-01

    Full Text Available Down Syndrome/Trisomy 21 is the most common chromosomal anomaly, and it represents the most common congenital cause of infants’ intellectual disability. Subjects with this syndrome are affected by degenerative processes caused by accelerated aging or unknown ethyologies. In recent years, accumulating evidence revealed increased potential of amniotic fluid-derived stem cells to be used in regenerative therapy. Our aim was to assess differences in immunophenotype, cell morphology and proliferation of amniotic fluid cells from normal and Down Syndrome pregnancies using a quantitative cytometry approach. Results revealed the emergence of a population of small sized cells in Down Syndrome derived amniotic fluid cells that are readily visible upon microscopic inspection. Hence, the fluorescence–based quantitative image cytometry determinations showed a tendency of decrease in both cell and nuclei size in trisomy, with no significant modification in nuclei circularity, as measured following actin cytoskeleton and nuclei labeling. The propensity of Ki67 positive cells was found to be increased in Down Syndrome derived cells (48.92% as compared to normal specimens (28.68%. However, cells in S and G2/M cell cycle phases decreased from 32.91% to 4.49% in diseased cells. Further studies are devoted to understanding the molecular basis of the observed differences in the proliferation ability of Down Syndrome amniotic cells, in order to evaluate the potential therapeutic effect of amniotic fluid stem cells for tissue regeneration in subjects with trisomy and to find correlations between amniotic cells phenotype and patient prognosis.

  5. A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association?

    Science.gov (United States)

    Kocak, Aslihan Yonca; Kocak, Oguzhan

    2015-01-01

    We report a case of woolly hair nevus with pigmentary demarcation lines and heterochromia iridis. Woolly hair nevus is a rare abnormality of the scalp hair characterized by the patch of hair, which is curlier and light colored than the rest of the scalp hair. Association of woolly hair nevus with some other ectodermal defects effecting skin and eyes has been reported before. Here, woolly hair nevus associated with demarcation lines and heterochromia iridis, to our knowledge, have not been previously reported.

  6. A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association?

    OpenAIRE

    Kocak, Aslihan Yonca; Kocak, Oguzhan

    2015-01-01

    We report a case of woolly hair nevus with pigmentary demarcation lines and heterochromia iridis. Woolly hair nevus is a rare abnormality of the scalp hair characterized by the patch of hair, which is curlier and light colored than the rest of the scalp hair. Association of woolly hair nevus with some other ectodermal defects effecting skin and eyes has been reported before. Here, woolly hair nevus associated with demarcation lines and heterochromia iridis, to our knowledge, have not been pre...

  7. Orbital malignant melanoma associated with nevus of Ota

    Directory of Open Access Journals (Sweden)

    Cherungottil V Radhadevi

    2013-01-01

    Full Text Available Nevus of Ota (oculodermal melanosis is a dermal melanocytic hamartoma with bluish hyperpigmentation along the first and second branches of the trigeminal nerve. Extracutaneous involvement, especially ocular, has been reported. A 45-year-old male presented with malignant melanoma of the left orbit in association with nevus of Ota. Being locally invasive, a modified exenteration with frontal flap repair was done on left eye. Adjuvant chemotherapy was given after wound healing. All pigmented lesions of the eye require close monitoring to help in the early diagnosis. Since malignant transformation has been reported in oculodermal melanosis, close follow-up and patient education will facilitate early diagnosis and prompt management. This case is reported for its rarity and unusual presentation.

  8. Orbital malignant melanoma associated with nevus of Ota.

    Science.gov (United States)

    Radhadevi, Cherungottil V; Charles, Kakkuzhiyil S; Lathika, Vasu K

    2013-06-01

    Nevus of Ota (oculodermal melanosis) is a dermal melanocytic hamartoma with bluish hyperpigmentation along the first and second branches of the trigeminal nerve. Extracutaneous involvement, especially ocular, has been reported. A 45-year-old male presented with malignant melanoma of the left orbit in association with nevus of Ota. Being locally invasive, a modified exenteration with frontal flap repair was done on left eye. Adjuvant chemotherapy was given after wound healing. All pigmented lesions of the eye require close monitoring to help in the early diagnosis. Since malignant transformation has been reported in oculodermal melanosis, close follow-up and patient education will facilitate early diagnosis and prompt management. This case is reported for its rarity and unusual presentation.

  9. Nevus of ota with buccal mucosal pigmentation: a rare case.

    Science.gov (United States)

    Shetty, Shishir Ram; Subhas, Babu G; Rao, Kumuda Arvind; Castellino, Renita

    2011-01-01

    Nevus of Ota is a condition wherein the typical pattern of the bluish black pigmentation is noticed along with the cutaneous distribution of the trigeminal nerve. This condition is most prevalent in Japanese population but comparatively rare among Indians. We report a case of 23-year-old female presented with unilateral pigmented areas over the skin of forehead, malar area, ear and periorbital area. Blackish-blue pigmented areas were also noticed on the sclera. Brownish-black diffuse pigmented areas were also noticed on the buccal mucosa of the same side. The presence of pigmentation on the skin over pinna and oral pigmentation made our case a rare incidence. Oral pigmentations associated with nevus of Ota especially on the buccal mucosa have rarely been reported in the past.

  10. Nevus of Ota with buccal mucosal pigmentation: A rare case

    Directory of Open Access Journals (Sweden)

    Shishir Ram Shetty

    2011-01-01

    Full Text Available Nevus of Ota is a condition wherein the typical pattern of the bluish black pigmentation is noticed along with the cutaneous distribution of the trigeminal nerve. This condition is most prevalent in Japanese population but comparatively rare among Indians. We report a case of 23-year-old female presented with unilateral pigmented areas over the skin of forehead, malar area, ear and periorbital area. Blackish-blue pigmented areas were also noticed on the sclera. Brownish-black diffuse pigmented areas were also noticed on the buccal mucosa of the same side. The presence of pigmentation on the skin over pinna and oral pigmentation made our case a rare incidence. Oral pigmentations associated with nevus of Ota especially on the buccal mucosa have rarely been reported in the past.

  11. Huge Nevus Lipomatosus Cutaneous Superficialis on Back: An Unusual Presentation.

    Science.gov (United States)

    Das, Dipti; Das, Anupam; Bandyopadhyay, Debabrata; Kumar, Dhiraj

    2015-01-01

    Nevus lipomatosus cutaneous superficialis (NLCS) is a benign dermatosis, histologically characterized by the presence of mature ectopic adipocytes in the dermis. We hereby report a case of a 10-year-old boy who presented with multiple huge swellings on the scapular regions and lower back. The lesions were surmounted by small papules, along with peau-d orange appearance at places. Histology showed features consistent with NLCS. The case is being reported for the unusual clinical presentation.

  12. Huge nevus lipomatosus cutaneous superficialis on back: An unusual presentation

    Directory of Open Access Journals (Sweden)

    Dipti Das

    2015-01-01

    Full Text Available Nevus lipomatosus cutaneous superficialis (NLCS is a benign dermatosis, histologically characterized by the presence of mature ectopic adipocytes in the dermis. We hereby report a case of a 10-year-old boy who presented with multiple huge swellings on the scapular regions and lower back. The lesions were surmounted by small papules, along with peau-d orange appearance at places. Histology showed features consistent with NLCS. The case is being reported for the unusual clinical presentation.

  13. Melanoma conjuntival multifocal recidivado originado de nevus pigmentado preexistente

    Directory of Open Access Journals (Sweden)

    Marcos Leandro Pereira

    2014-06-01

    Full Text Available O melanoma conjuntival multifocal recidivado originado de nevus preexistente é extremamente raro, ocorrendo em uma pessoa para cinco milhões de habitantes. Seu estudo é de extrema relevância, devido sua potencial letalidade. Este estudo objetiva descrever um caso de melanoma conjuntival multifocal recidivado proveniente de nevus pigmentado preexistente ocorrido em Patos de Minas, MG. Este é um estudo de caso com revisão de literatura. O diagnóstico histopatológico e o estadiamento precoce da lesão conjuntival é de fundamental importância para designar a conduta frente ao paciente. O procedimento terapêutico mais utilizado nos dias atuais é a excisão cirúrgica com crioterapia adjuvante associada à mitomicina C. O prognóstico do melanoma conjuntival multifocal recidivado originado de nevus preexistente é o pior dentre todos os melanomas oculares, apresentando alta taxa de mortalidade, 12% a 20% em 5 anos e 30% em 10 anos de desenvolvimento patológico.

  14. Severe Blue Rubber Bleb Nevus Syndrome in a Neonate

    DEFF Research Database (Denmark)

    Hansen, L; Wewer, V; Pedersen, S;

    2008-01-01

    bleeding during the first 3 years of life. Afterwards repeated endoscopic electrocoagulations were performed over a period of one year resulting in a termination of bleeding episodes. At ten years of age the patient developed spastic diplegia with slight walking disabilities, coordination and fine motor...... problems. The case is unique because 1) it is the first neonatal case with BRBNS and severe gastrointestinal bleeding; 2) the patient was successfully treated by endoscopic electrocoagulation; and 3) the long-term follow-up. The use of electrocoagulation appears to have been effective and ablation...

  15. "Sky Full of Stars" Pattern: Dermoscopic Findings in a Desmoplastic Giant Congenital Melanocytic Nevus.

    Science.gov (United States)

    Martín-Carrasco, Pablo; Bernabeu-Wittel, José; Dominguez-Cruz, Javier; Zulueta Dorado, Teresa; Conejo-Mir Sanchez, Julian

    2017-02-27

    Desmoplastic giant congenital melanocytic nevus (DGCN) is an uncommon variant of congenital nevus, presenting as a progressive induration and hypopigmentation of the lesion that occasionally causes hair loss and even total or partial disappearance of the nevus. A 6-month-old girl with a giant congenital melanocytic nevus that involved the entire posterior side of the right thigh was seen in our department. Nine months later, the peripheral area of the nevus presented as a marked induration with hypopigmentation. Dermoscopy demonstrated a reticular pattern exclusively located in the perifollicular areas, with a radial distribution from the follicular ostium that mimicked a "sky full of stars." We report a case of DGCN, including a dermoscopic description of the findings noted in the indurated and hypopigmented areas that appear as a "sky full of stars" image.

  16. Unusual halo nevi--darkening rather than lightening of the central nevus.

    Science.gov (United States)

    Huynh, P M; Lazova, R; Bolognia, J L

    2001-01-01

    Although the classic halo nevus is a brown nevus with a surrounding rim of depigmentation, i.e. a stage I halo nevus, these nevi can have several clinical stages. The central nevus may lose its pigmentation and appear pink with a surrounding halo (stage II), the central papule may disappear leading to a circular area of depigmentation (stage III) or the depigmented area may repigment (stage IV), leaving no trace of its prior existence. Herein we describe an unusual phenomenon--darkening of the central nevus rather than lightening--following the appearance of the halo phenomenon. An 18-year-old boy who had multiple atypical nevi developed multiple halo nevi beginning at the age of 12 years. Following the appearance of the peripheral halos, 2 of his nevi that were originally solid medium brown in color darkened and the hyperpigmentation had a reticulated pattern with perifollicular sparing. One possible explanation is a postinflammatory hyperpigmentation induced by the infiltrating lymphocytes.

  17. Sertoli Cell-Only Syndrome: Behind the Genetic Scenes

    Directory of Open Access Journals (Sweden)

    Katrien Stouffs

    2016-01-01

    Full Text Available Sertoli cell-only syndrome is defined by the complete absence of germ cells in testicular tissues and always results in male infertility. The aetiology often remains unknown. In this paper, we have investigated possible causes of Sertoli cell-only syndrome with a special focus on genetic causes. Our results show that, for a large part of the patients (>23% in an unselected group, the sex chromosomes are involved. The majority of patients had a Klinefelter syndrome, followed by patients with Yq microdeletions. Array comparative genomic hybridization in a selected group of “idiopathic patients” showed no known infertility related copy number variations.

  18. Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.

    Science.gov (United States)

    Stouffs, Katrien; Gheldof, Alexander; Tournaye, Herman; Vandermaelen, Deborah; Bonduelle, Maryse; Lissens, Willy; Seneca, Sara

    2016-01-01

    Sertoli cell-only syndrome is defined by the complete absence of germ cells in testicular tissues and always results in male infertility. The aetiology often remains unknown. In this paper, we have investigated possible causes of Sertoli cell-only syndrome with a special focus on genetic causes. Our results show that, for a large part of the patients (>23% in an unselected group), the sex chromosomes are involved. The majority of patients had a Klinefelter syndrome, followed by patients with Yq microdeletions. Array comparative genomic hybridization in a selected group of "idiopathic patients" showed no known infertility related copy number variations.

  19. Nevoid Basal Cell Carcinoma Syndrome : A Case Report

    Directory of Open Access Journals (Sweden)

    K Rajanikanth

    2004-01-01

    Full Text Available The nevoid basal cell carcinoma syndrome (NBCCS or Gorlin - Goltz syndrome is an autosomal disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. The major organ systems involved are skin, bones, central nervous system, eyes, gonads and endocrine. This particular syndrome is extensively described in the literature under different names. However, there are only few cases reported in the Indian literature. An unusual case of a 33-year old male with large odontogenic keratocyst involving impacted canine in the mandible, along with multiple cysts and impacted teeth in the maxilla; bifid rib and vertebral anomalies has been described.

  20. A preliminary report of the treatment of blue nevus with dermal injection of riboflavin and exposure to near-ultraviolet/visible radiation (ribophototherapy).

    Science.gov (United States)

    Sato, K; Sakakibara, N; Hasegawa, K; Minami, H; Tsuji, T

    2000-05-01

    Dye lasers are useful for treating pigmented skin lesions, but their equipment is expensive and bulky. A simple and cheap phototherapy would be acceptable to dermatologists for treating pigmented skin lesions such as nevus of Ota. We investigated as a pilot study whether dermal injection of riboflavin and exposure to near-ultraviolet/visible radiation (ribophototherapy) decreases the dermal pigment of blue nevi which are recalcitrant to laser therapy. The therapeutic efficacy was assessed by comparison of the amount of dermal pigment in hematoxylin-eosin specimens taken before and after treatment. Pigmentation of the nevus became faint to the depth of 1 mm with little noticeable epidermal change after 21 treatments. At the deeper dermis somewhere between 3 and 4 mm from the epidermis, ballooning degeneration of the dermal cells was observed in hematoxylin-eosin specimens. Ribophototherapy is hopeful for treating pigmented skin lesions.

  1. Intracranial intermediate-grade meningeal melanocytoma with increased cellular proliferative index: an illustrative case associated with a nevus of Ota.

    Science.gov (United States)

    Navas, Marta; Pascual, José M; Fraga, Javier; Pedrosa, Manuel; Shakur, Sophia; Carrasco, Rodrigo; Martínez, Pedro; Manzanares, Rafael; de Sola, Rafael García

    2009-10-01

    Solitary primary melanocytic tumors of the central nervous system (CNS) represent a spectrum of lesions ranging from well-differentiated melanocytoma to melanoma. The association of a meningeal melanocytoma with an ipsilateral nevus of Ota is extremely rare, with only six cases reported in the literature to date. Only a minority of melanocytic tumors correspond to lesions of intermediate-grade malignancy, whose biological behavior and outcome remain undetermined. We report a new case of a 25-year-old man with a giant fronto-temporal intracranial meningeal melanocytoma associated with a congenital nevus of Ota, who suffered an acute neurological deterioration requiring an emergent surgical procedure. Despite total removal of the lesion, the patient did not recover from the operation due to a malignant infarct of the right hemisphere. The lesion showed no histological criteria of malignancy but did exhibit an elevated (8%) MIB-1/Ki-67 cell proliferative index, which suggested an intermediate-grade melanocytoma. In addition, its metabolic profile, determined by in vivo proton magnetic resonance spectroscopy (MRS), was similar to that observed in most high-grade gliomas. To our knowledge, this is the first case of a meningeal melanocytoma of intermediate grade associated with a nevus of Ota reported in the literature. Only two additional intermediate-grade melanocytomas showing an elevated MIB-1/Ki-67 labeling index have been previously reported. The MIB-1/Ki-67 labeling index may have potential prognostic value in helping the clinician to predict an aggressive clinical behavior and/or malignant progression for primary melanocytic neoplasms of the CNS.

  2. Tuberous sclerosis with bilateral renal cell carcinoma in a child: A case report

    Directory of Open Access Journals (Sweden)

    Sanjay Choudhuri

    2015-01-01

    Full Text Available Tuberous sclerosis complex (TCS is an autosomal dominant disease which comes under a group of diseases known as neurocutaneous syndrome. Incidence of TCS is around 1 in 6000. The clinical triad of papular facial nevus, seizures and mental retardation is found in less than 50% of the patients. Renal lesions in TCS commonly consist of simple renal cyst and angiomyolipomas. Renal cell carcinoma though rarely associated with tuberous sclerosis may be its significant manifestations. We report a case of TCS with bilateral renal cell carcinoma in a 12 year old child with classical radiological and clinical signs.

  3. Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review.

    Science.gov (United States)

    Fujii, Katsunori; Miyashita, Toshiyuki

    2014-10-01

    Gorlin syndrome, also called nevoid basal cell carcinoma syndrome, is an autosomal dominant neurocutaneous disease characterized by developmental anomalies such as palmar pits and rib anomaly, and tumorigenesis such as medulloblastoma and basal cell carcinoma. This syndrome is mainly caused by a mutation of PTCH1, a human homologue of Drosophila patched, including frameshift, missense, or nonsense mutations. Genotype-phenotype correlation has not been established. PTCH1 is a member of hedgehog signaling, which is a highly conserved pathway in vertebrates, composed of hedgehog, SMO, and GLI proteins as well as PTCH1. Given that hedgehog signaling regulates cell growth and development, disorder of this pathway gives rise to not only developmental anomalies but also diverse tumors such as those seen in Gorlin syndrome. We recently reported, for the first time, a nationwide survey of Gorlin syndrome in Japan, noting that the frequency was 1/235,800 in the Japanese population, and that the frequency of basal cell carcinomas was significantly lower in Japan than in the USA and Europe, suggesting that ethnicity and genetic background contribute to these differences. Given that many clinical trials using newly discovered molecular inhibitors are still ongoing, these agents should become the new therapeutic options for hedgehog pathway-dependent tumors in patients with or without Gorlin syndrome.

  4. Genetics Home Reference: giant congenital melanocytic nevus

    Science.gov (United States)

    ... that is composed of pigment-producing cells called melanocytes . It is present from birth (congenital) or is ... is the presence of pigment-producing skin cells (melanocytes) in the tissue that covers the brain and ...

  5. Nevus of the Eyelid Margin Mimicking a Malignant Melanoma

    Directory of Open Access Journals (Sweden)

    A. Echchaoui

    2016-06-01

    Full Text Available Nevi are a benign skin lesions commonly found on the eyelid margin, these tumors are usually pigmented and have thickness. Nevi are not typically visible at birth; they appear during childhood and often exhibit a more rapid increase in pigmentation about the time of puberty. Most eyelid nevi can be diagnosed by clinical examination; suspicious lesions should be biopsied when rapid growth, loss of eyelashes or discoloration of the nevus is noted. Eyelid nevi require treatment if malignant transformation and/or cosmetically bothersome to the patient. We report a case of a 37-year-old female patient exhibited a single cutaneous tumor at the free margin of the lower left eyelid, she noticed a dark spot on their eyelid since childhood. It was a brown, fleshy, thickened, and nodular well-circumscribed exophytic mass, measuring 6 mm in diameter; its clinical appearance argued for a possible nodular melanoma. Excisional-biopsy was performed using a full-thickness pentagonal wedge excision technique. Histopathology showed that the lesion was a benign melanocytic nevocellular nevus. The post-operative courses were uneventful with excellent cosmetic and functional result. Preventive measures (cap, sunglasses... and regular monitoring of the lesion by assessing ABCDE criteria (asymmetry, irregular borders, multiple colors, diameter ≥ 6 mm, and enlargement remain necessary to detect and rule out a possible risk of malignant melanoma.

  6. Unilateral open-angle glaucoma associated with the ipsilateral nevus of ota.

    Science.gov (United States)

    Magarasevic, Lidija; Abazi, Zihret

    2013-01-01

    The nevus of Ota also known as "congenital melanosis bulbi" and "oculodermal melanocytosis" is a blue-gray hyperpigmentation that occurs on the face and eyes. The sclera is involved in two-thirds of cases (causing an increased risk of glaucoma). Women are nearly five times more likely to be affected than men. It is rare among Caucasian people. The nevus of Ota is congenital or acquired. Most cases of the nevus of Ota are unilateral (90%), although pigmentation is present bilaterally in 5%-10%. Ocular abnormalities included pigmentation of the sclera, cornea, retina, and optic disc and cavernous hemangiomas of the optic disc, elevated intraocular pressure, glaucoma, and ocular melanoma. We reported an appearance of unilateral glaucoma in a Caucasian female patient with the acquired, ipsilateral nevus of Ota.

  7. Unilateral Open-Angle Glaucoma Associated with the Ipsilateral Nevus of Ota

    Directory of Open Access Journals (Sweden)

    Lidija Magarasevic

    2013-01-01

    Full Text Available The nevus of Ota also known as “congenital melanosis bulbi” and “oculodermal melanocytosis” is a blue-gray hyperpigmentation that occurs on the face and eyes. The sclera is involved in two-thirds of cases (causing an increased risk of glaucoma. Women are nearly five times more likely to be affected than men. It is rare among Caucasian people. The nevus of Ota is congenital or acquired. Most cases of the nevus of Ota are unilateral (90%, although pigmentation is present bilaterally in 5%–10%. Ocular abnormalities included pigmentation of the sclera, cornea, retina, and optic disc and cavernous hemangiomas of the optic disc, elevated intraocular pressure, glaucoma, and ocular melanoma. We reported an appearance of unilateral glaucoma in a Caucasian female patient with the acquired, ipsilateral nevus of Ota.

  8. Basal Cell Carcinoma of the Umbilicus: A Comprehensive Literature Review

    Science.gov (United States)

    Cohen, Philip R

    2016-01-01

    Basal cell carcinoma (BCC) typically occurs in sun-exposed sites. Only 16 individuals with umbilical BCC have been described in the literature, and the characteristics of patients with umbilical BCC are summarized. PubMed was used to search the following terms: abdomen, basal cell carcinoma, basal cell nevus syndrome, and umbilicus. Papers with these terms and references cited within these papers were reviewed. BCC of the umbilicus has been reported in five men and 11 women; one man had two tumors. Two patients had basal cell nevus syndrome (BCNS). Other risk factors for BCC were absent. The tumor most commonly demonstrated nodular histology (64%, 9/14); superficial and fibroepithelioma of Pinkus variants were noted in three and two patients, respectively. The tumor was pigmented in eight individuals. Treatment was conventional surgical excision (87%, 13/15) or Mohs micrographic surgery (13%, 2/15); either adjuvant laser ablation or radiotherapy was performed in two patients. The prognosis after treatment was excellent with no recurrence or metastasis (100%, 16/16). In conclusion, BCC of the umbilicus is rare. It usually presents as a tumor with a non-aggressive histologic subtype in an individual with no risk factors for this malignancy. There has been no recurrence or metastasis following excision of the cancer. PMID:27738570

  9. Quantifying mast cells in bladder pain syndrome by immunohistochemical analysis

    DEFF Research Database (Denmark)

    Larsen, M.S.; Mortensen, S.; Nordling, J.;

    2008-01-01

    OBJECTIVES To evaluate a simple method for counting mast cells, thought to have a role in the pathophysiology of bladder pain syndrome (BPS, formerly interstitial cystitis, a syndrome of pelvic pain perceived to be related to the urinary bladder and accompanied by other urinary symptoms, e. g....... frequency and nocturia), as > 28 mast cells/mm(2) is defined as mastocytosis and correlated with clinical outcome. PATIENTS AND METHODS The current enzymatic staining method (naphtolesterase) on 10 mu m sections for quantifying mast cells is complicated. In the present study, 61 patients had detrusor...... sections between, respectively. Mast cells were counted according to a well-defined procedure. RESULTS The old and the new methods, on 10 and 3 mu m sections, showed a good correlation between mast cell counts. When using tryptase staining and 3 mu m sections, the mast cell number correlated well...

  10. [Visual hallucinations and giant cell arteritis: the Charles Bonnet syndrome].

    Science.gov (United States)

    Bloch, J; Morell-Dubois, S; Koch, E; Launay, D; Maillard-Lefebvre, H; Buchdahl, A-L; Hachulla, E; Rouland, J-F; Hatron, P-Y; Lambert, M

    2011-12-01

    In patients with visual hallucinations, diagnostic strategy is unclearly codified. In patients known to have giant cell arteritis, the main diagnostic assumption is disease relapse. Indeed, this should lead to rapid corticosteroid therapy. However, the Charles Bonnet syndrome, that is a poorly known etiology of visual hallucinations usually observed in elderly people, should be part of the differential diagnosis. We report a 87-year-old woman, with a 2-year history of giant cell arteritis who was admitted with an acute onset of visual hallucinations and who met all the criteria for Charles Bonnet syndrome.

  11. Klinefelter Syndrome with Poor Risk Extragonadal Germ Cell Tumor

    Directory of Open Access Journals (Sweden)

    Jeremy A. Konheim

    2017-01-01

    Full Text Available Germ cell tumors are the most common malignancy in men aged 15-35 years old, with a small percentage presenting in an extragonadal location. These tumors are seldom identified in the gastrointestinal tract. There is increased risk of extragonadal germ cell tumors (EGCT in men with Klinefelter syndrome (KS. We report a rare case of a 37-year-old male with KS and EGCT discovered in the duodenum and pelvis. After treatment with Bleomycin-Etoposide-Cisplatin (BEP, he developed growing teratoma syndrome (GTS and myelodysplasia. Despite surgical excision of the pelvic growing teratoma, he unfortunately died secondary to complications of severe bone marrow suppression.

  12. Klinefelter Syndrome with Poor Risk Extragonadal Germ Cell Tumor.

    Science.gov (United States)

    Konheim, Jeremy A; Israel, Jonathan A; Delacroix, Scott E

    2017-01-01

    Germ cell tumors are the most common malignancy in men aged 15-35 years old, with a small percentage presenting in an extragonadal location. These tumors are seldom identified in the gastrointestinal tract. There is increased risk of extragonadal germ cell tumors (EGCT) in men with Klinefelter syndrome (KS). We report a rare case of a 37-year-old male with KS and EGCT discovered in the duodenum and pelvis. After treatment with Bleomycin-Etoposide-Cisplatin (BEP), he developed growing teratoma syndrome (GTS) and myelodysplasia. Despite surgical excision of the pelvic growing teratoma, he unfortunately died secondary to complications of severe bone marrow suppression.

  13. Giant cell lichenoid dermatitis in a patient with baboon syndrome.

    Science.gov (United States)

    Khelifa-Hamdani, Elhem; Touati-Serraj, Monia; Perriard, Jacqueline; Chavaz, Pierre; Saurat, Jean-Hilaire; Kaya, Gürkan

    2008-10-01

    Giant cell lichenoid dermatitis is a recently described pathological entity, which can be seen as an unusual lichenoid drug eruption, a manifestation of sarcoidosis or within herpes zoster scars. Histopathological findings include focal vacuolar alteration of the basal layer with cytoid bodies, dermal and intraepidermal multinucleated giant cells and a mixed chronic inflammatory infiltrate with a lichenoid pattern consisting of lymphocytes, histiocytes, eosinophils and plasma cells. Here, we report a giant cell lichenoid dermatitis in a 41-year-old male patient who developed, 3 days after intravenous treatment with amoxicillin-clavulanic acid for erysipelas of the left leg, a clinical picture suggesting a baboon syndrome characterized by an erythematous and pruritic eruption on the axillary, inguinal and popliteal areas and the anterior side of elbows. This is the first reported case of giant cell lichenoid dermatitis in a patient with baboon syndrome.

  14. Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement

    Science.gov (United States)

    Mittal, Kundan; Kaushik, Jaya Shankar; Kaur, Gurpreet; Aamir, Mohd; Sharma, Suvasini

    2014-01-01

    The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive megalencephaly. PMID:25024575

  15. Unusual presentation of Sturge-Weber syndrome: Progressive megalencephaly with bilateral cutaneous and cortical involvement

    Directory of Open Access Journals (Sweden)

    Kundan Mittal

    2014-01-01

    Full Text Available The Sturge Weber syndrome is characterized by developmental delay, seizures in infancy, unilateral cutaneous lesions with ipsilateral leptomeningeal enhancement. We report an unusual presentation of Sturge Weber syndrome with bilateral port wine nevus on the trunk and face along with bilateral cortical involvement in a developmentally normal child with progressive megalencephaly.

  16. Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

    Science.gov (United States)

    Pastorino, L; Cusano, R; Nasti, S; Faravelli, F; Forzano, F; Baldo, C; Barile, M; Gliori, S; Muggianu, M; Ghigliotti, G; Lacaita, M G; Lo Muzio, L; Bianchi-Scarra, G

    2005-03-01

    Mutations in the PTCH gene, the human homolog of the Drosophila patched gene, have been found to lead to the autosomal dominant disorder termed Nevoid Basal Cell Carcinoma Syndrome (NBCCS, also called Gorlin Syndrome). Patients display an array of developmental anomalies and are prone to develop a variety of tumors, with multiple Basal Cell Carcinomas occurring frequently. We provide here the results of molecular testing of a set of Italian Nevoid Basal Cell Carcinoma Syndrome patients. Twelve familial patients belonging to 7 kindreds and 5 unaffected family members, 6 non-familial patients and an additional set of 7 patients with multiple Basal Cell Carcinoma but no other criteria for the disease were examined for mutations in the PTCH gene. All of the Nevoid Basal Cell Carcinoma Syndrome patients were found to carry variants of the PTCH gene. We detected nine novel mutations (1 of which occurring twice): 1 missense mutation (c.1436T>G [p.L479R]), 1 nonsense mutation (c.1138G>T [p.E380X]), 6 frameshift mutations (c.323_324ins2, c.2011_2012dup, c.2535_2536dup, c.2577_2583del, c.3000_3005del, c.3050_3051del), 1 novel splicing variant (c.6552A>T) and 3 mutations that have been previously reported (c.3168+5G>A, c.1526G>T [p.G509V], and c.3499G>A [p.G1167R]). None of the patients with multiple Basal Cell Carcinoma but no other criteria for the syndrome, carried germline coding region mutations.

  17. Cell Phone Use by Adolescents with Asperger Syndrome

    Science.gov (United States)

    Durkin, Kevin; Whitehouse, Andrew; Jaquet, Emma; Ziatas, Kathy; Walker, Allan J.

    2010-01-01

    While young people have generally been at the forefront of the adoption and use of new communications technologies, little is known of uses by exceptional youth. This study compares cell phone use by a group of adolescents with Asperger Syndrome (n = 35) with that by a group of adolescents with typical development (n = 35). People with Asperger…

  18. Testicular dysgenesis syndrome and Leydig cell function

    DEFF Research Database (Denmark)

    Joensen, U.N.; Jorgensen, N.; Rajpert-De, Meyts E.

    2008-01-01

    originating in early foetal life. TDS comprises various aspects of impaired gonadal development and function, including testicular cancer. A growing body of evidence, including animal models and research in human beings, points to lifestyle factors and endocrine disrupters as risk factors for TDS. We present......Fertility among human beings appear to be on the decline in many Western countries, and part of the explanation may be decreasing male fecundity. A hypothesis has been put forward that decreasing semen quality may be associated with a testicular dysgenesis syndrome (TDS), a spectrum of disorders...

  19. Irritable bowel syndrome - An inflammatory disease involving mast cells

    OpenAIRE

    Philpott, Hamish; Gibson, Peter; Thien, Frank

    2011-01-01

    Irritable bowel syndrome (IBS) is traditionally defined as a functional disorder - that is the presence of symptoms in the absence of demonstrable pathological abnormalities. In recent times, low grade inflammatory infiltrates in both the small and large bowel of some patients with IBS - often rich in mast cells, along with serological markers of low grade inflammation have focussed attention on IBS as an inflammatory disease. The observation that mast cells often lie in close association to ...

  20. Augmented cell death with Bloom syndrome helicase deficiency.

    Science.gov (United States)

    Kaneko, Hideo; Fukao, Toshiyuki; Kasahara, Kimiko; Yamada, Taketo; Kondo, Naomi

    2011-01-01

    Bloom syndrome (BS) is a rare autosomal genetic disorder characterized by lupus-like erythematous telangi-ectasias of the face, sun sensitivity, infertility, stunted growth, upper respiratory infection, and gastrointestinal infections commonly associated with decreased immuno-globulin levels. The syndrome is associated with immuno-deficiency of a generalized type, ranging from mild and essentially asympto-matic to severe. Chromosomal abnormalities are hallmarks of the disorder, and high frequencies of sister chromatid exchanges and quadriradial configurations in lymphocytes and fibroblasts are diagnostic features. BS is caused by mutations in BLM, a member of the RecQ helicase family. We determined whether BLM deficiency has any effects on cell growth and death in BLM-deficient cells and mice. BLM-deficient EB-virus-transformed cell lines from BS patients and embryonic fibroblasts from BLM-/- mice showed slower growth than wild-type cells. BLM-deficient cells showed abnormal p53 protein expression after irradiation. In BLM-/- mice, small body size, reduced number of fetal liver cells and increased cell death were observed. BLM deficiency causes the up-regulation of p53, double-strand break and apoptosis, which are likely observed in irradiated control cells. Slow cell growth and increased cell death may be one of the causes of the small body size associated with BS patients.

  1. Abdominal vascular syndromes: characteristic imaging findings*

    Science.gov (United States)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe

    2016-01-01

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital-including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)-or compressive-including "nutcracker" syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. PMID:27777480

  2. Giant congenital cellular blue nevus of the scalp: neonatal presentation and approach

    Directory of Open Access Journals (Sweden)

    Debyser M

    2011-12-01

    Full Text Available Martine Debyser1, Sofie De Schepper2, James D'haese1, Veerle De Ketelaere3, Luc Cornette11Neonatal Intensive Care Unit AZ St Jan Bruges-Ostend AV, Bruges, Belgium; 2Department of Dermatology, Ghent University Hospital, Ghent, Belgium; 3Department of Paediatrics, St Rembert Hospital, Torhout, BelgiumAbstract: The authors report the case of a massive vaginal bleeding during labor and delivery, resulting in the birth of a newborn infant in hypovolemic shock. The origin of the bleeding was a giant congenital cellular blue nevus (CBN of the scalp. The report illustrates the crucial role of immediate and aggressive volume resuscitation, suturing of the skin dehiscence, and firm external compression. This therapy was combined with whole-body hypothermia. The neurological outcome of the patient was normal. A shiny blue mass on the scalp should alert neonatologists to the possibility of a blue nevus of the scalp, rather than a simple scalp hematoma. Final diagnosis is made by biopsy and histologic examination. Early surgical intervention is necessary to prevent malignant degeneration and metastasis. A multidisciplinary approach involving a pediatrician/neonatologist, dermatologist, and surgeon is thus needed for diagnosis, treatment, and long-term follow-up.Keywords: neonate, cellular blue nevus, giant blue nevus, giant congenital blue nevus, hemorrhagic shock, whole-body hypothermia

  3. Human giant congenital melanocytic nevus exhibits potential proteomic alterations leading to melanotumorigenesis

    Directory of Open Access Journals (Sweden)

    Kim Hyoung Kyu

    2012-08-01

    Full Text Available Abstract Background A giant congenital melanocytic nevus (GCMN is a malformation of the pigment cells. It is a distress to the patients for two reasons: one is disfigurement, and the other is the possibility of malignant changes. However, the underlying mechanisms of the development of GCMN and melanotumorigenesis in GCMN are unknown. Hence, the aim of this study was to identify the proteomic alterations and associated functional pathways in GCMN. Results Proteomic differences between GCMN (n = 3 and normal skin samples (n = 3 were analyzed by one-dimensional-liquid chromatography-tandem mass spectrometry Relative levels of the selected proteins were validated using western blot analysis. The biological processes associated with the abundance modified proteins were analyzed using bioinformatic tools. Among the 46 abundance modified proteins, expression of 4 proteins was significantly downregulated and expression of 42 proteins was significantly upregulated in GCMN compared to normal skin samples (p  Conclusion These findings suggest that GCMN exhibits potential proteomic alterations, which may play a role in melanotumorigenesis, and the significant alteration of 14-3-3 family proteins could be a key regulator of the biological pathway remodeling in GCMN.

  4. Sickle cell syndrome. Association between hemoglobin S and β thalassemia

    Directory of Open Access Journals (Sweden)

    Nehuen P. Gasparini

    2016-12-01

    Full Text Available Sickle cell syndrome HbS/β thalassemia is an inheritable mendelian type disease where two affected alleles are simultaneously present, one from HbS (βS and the other from β thalassemia. That situation is mainly linked to individuals who share African and Mediterranean ancestors. The mutation responsible for HbS is a point mutation, whereas for β thalassemia, there are more than 200 mutations that cause different degrees of deficiency synthesis of β globin chain, which justifies the clinical and genetic heterogeneity of this syndrome. It is presented a clinical case of a young adult man with limited resources that consulted by longstanding bone pain. The patient presented anemia with a marked microcytosis. Hemoglobin electrophoresis was performed, an abnormal peak in position of HbS and high HbA2 fraction were detected. These last results indicated two possible molecular alterations simultaneously, for this reason the molecular study was performed looking for the most common β thalassemia mutations in our population and, the point mutation responsible for S hemoglobinopathy. Clinical data and biochemical laboratory allowed the diagnosis of sickle cell syndrome. The molecular study confirmed the syndrome carrying mutations IVS-I nt 110 G > A, responsible for β thalassemia and, codon 6 A > T (GAG → GTG: Glu → Val responsible for S hemoglobinophaty. Since it is a disease of high health impact, it is important to provide genetic counseling to the whole family.

  5. Effect of Q-switched Alexandrite laser irradiation on epidermal melanocytes in treatment of Nevus of Ota

    Institute of Scientific and Technical Information of China (English)

    卢忠; 陈军庞; 王侠生; 方丽华; 焦圣; 黄雯

    2003-01-01

    Objective To investigate injury to epidermal melanocyte by Q-switched Alexandrite laser.Methods Multiple biopsies were performed on 5 patients with nevus of Ota from before irradiation to 1 year after irradiation. Fourteen specimens were obtained for light microscopy, and 17 for transmission electron microscopy.Results Melanosomes in epidermal melanocytes were both smaller in size and fewer in number than those in dermal melanocytes. Immediately after irradiation, focal extracellular vacuoles of the basal layer could be observed under light microscopy. Most epidermal melanocytes underwent mild or moderate injury in the form of vacuolated melanosomes, swollen mitochondria, dilation of endoplasmic reticulum, and expansion of extracellular space, retaining intact cell membranes. Normal structures were restored 5 months to 1 year after irradiation, with no depigmentation or hyperpigmentation as seen by light microscopy.Conclusion Injury of melanosomes in epidermal melanocytes is reversible.

  6. Correction of Down syndrome and Edwards syndrome aneuploidies in human cell cultures.

    Science.gov (United States)

    Amano, Tomokazu; Jeffries, Emiko; Amano, Misa; Ko, Akihiro C; Yu, Hong; Ko, Minoru S H

    2015-10-01

    Aneuploidy, an abnormal number of chromosomes, has previously been considered irremediable. Here, we report findings that euploid cells increased among cultured aneuploid cells after exposure to the protein ZSCAN4, encoded by a mammalian-specific gene that is ordinarily expressed in preimplantation embryos and occasionally in stem cells. For footprint-free delivery of ZSCAN4 to cells, we developed ZSCAN4 synthetic mRNAs and Sendai virus vectors that encode human ZSCAN4. Applying the ZSCAN4 biologics to established cultures of mouse embryonic stem cells, most of which had become aneuploid and polyploid, dramatically increased the number of euploid cells within a few days. We then tested the biologics on non-immortalized primary human fibroblast cells derived from four individuals with Down syndrome—the most frequent autosomal trisomy of chromosome 21. Within weeks after ZSCAN4 application to the cells in culture, fluorescent in situ hybridization with a chromosome 21-specific probe detected the emergence of up to 24% of cells with only two rather than three copies. High-resolution G-banded chromosomes further showed up to 40% of cells with a normal karyotype. These findings were confirmed by whole-exome sequencing. Similar results were obtained for cells with the trisomy 18 of Edwards syndrome. Thus a direct, efficient correction of aneuploidy in human fibroblast cells seems possible in vitro using human ZSCAN4.

  7. Treatment of nevus of OTA by Q-switched, frequency doubled, ND: Yag laser

    Directory of Open Access Journals (Sweden)

    National Skin and Hair Care Centre

    2002-01-01

    Full Text Available Nevus of Ota is a dermal melanocytic nevus for which hitherto no effective therapy was available. Lasers have been successfully tried for ablation. But there is no Indian experience till date. Q- Switched, Frequency Doubled, Nd: YAG Laser was installed at our centre an year ago. The first operated case, which has shown near complete pigment dilution, is being presented. The patient underwent three treatments with a minimum of 2 months between sessions. Pre and post therapy photographs were taken and side effects documented. The patient has shown near complete pigment dilution after 3 treatments. Q-Switched, Frequency Doubled, Nd: YAG Laser is effective in treating Nevus of Ota in the Indian skin types. There are no complications noticed till date in our experience.

  8. Leydig cell hyperplasia in the setting of Klinefelter syndrome.

    Science.gov (United States)

    Sterbis, Joseph; E-Nunu, Toritsetimiyin

    2015-07-24

    A man in his 20's with Klinefelter syndrome presented to the urology clinic with a recent history of left-sided orchalgia. Ultrasound evaluation demonstrated multiple small hypoechoic lesions bilaterally, with the largest lesion measured at 5 mm × 6 mm × 8 mm. Testis cancer tumour markers, chest radiographs and abdominal CT imaging were negative. A partial orchiectomy was performed on the largest lesion, demonstrating the presence of Leydig cell hyperplasia.

  9. Report of rare palatal expression of Nevus of Ota with amendment of Tanino's classification.

    Science.gov (United States)

    Guledgud, Mahima V; Patil, Karthikeya; Srivathsa, Srikanth H; Malleshi, Suchetha N

    2011-01-01

    Nevus of Ota, a benign melanocytic pigmentary disorder with rare malignant transformation potential, affects 0.014-0.034% of the Asian and Black population and has a strong predilection for females. It occurs in the area innervated by the first and second division of the trigeminal nerve. Oral manifestation is rarely noted with only 14 cases reported till date. This report documents a case of Nevus of Ota with the infrequently noted oral involvement, in an Indian lady. Since oral manifestation is not acknowledged in Tanino's classification, the authors propose a modification to the same.

  10. Report of rare palatal expression of Nevus of Ota with amendment of Tanino′s classification

    Directory of Open Access Journals (Sweden)

    Mahima V Guledgud

    2011-01-01

    Full Text Available Nevus of Ota, a benign melanocytic pigmentary disorder with rare malignant transformation potential, affects 0.014-0.034% of the Asian and Black population and has a strong predilection for females. It occurs in the area innervated by the first and second division of the trigeminal nerve. Oral manifestation is rarely noted with only 14 cases reported till date. This report documents a case of Nevus of Ota with the infrequently noted oral involvement, in an Indian lady. Since oral manifestation is not acknowledged in Tanino′s classification, the authors propose a modification to the same.

  11. Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells

    Directory of Open Access Journals (Sweden)

    Dido Carrero

    2016-07-01

    Full Text Available Ageing is a process that inevitably affects most living organisms and involves the accumulation of macromolecular damage, genomic instability and loss of heterochromatin. Together, these alterations lead to a decline in stem cell function and to a reduced capability to regenerate tissue. In recent years, several genetic pathways and biochemical mechanisms that contribute to physiological ageing have been described, but further research is needed to better characterize this complex biological process. Because premature ageing (progeroid syndromes, including progeria, mimic many of the characteristics of human ageing, research into these conditions has proven to be very useful not only to identify the underlying causal mechanisms and identify treatments for these pathologies, but also for the study of physiological ageing. In this Review, we summarize the main cellular and animal models used in progeria research, with an emphasis on patient-derived induced pluripotent stem cell models, and define a series of molecular and cellular hallmarks that characterize progeroid syndromes and parallel physiological ageing. Finally, we describe the therapeutic strategies being investigated for the treatment of progeroid syndromes, and their main limitations.

  12. Usp16: key controller of stem cells in Down syndrome

    Science.gov (United States)

    Xu, Jin-chong; Dawson, Valina L; Dawson, Ted M

    2013-01-01

    Nature 501: 380–384 Somatic stem cell activity is critical for tissue homeostasis. Defects in stem cells are thought to be involved in many diseases, including inherited disorders and aging (He et al, 2009). In a recent paper published in Nature, Adorno et al (2013) demonstrate that there is a general somatic stem cell defect in Down syndrome (DS), a congenital disorder with triplication of human chromosome 21 (HSA21; Roper and Reeves, 2006; Mégarbané et al, 2009). They report that the deubiquitinase Usp16 gene located on HSA21 is a key epigenetic switch that regulates stem cell self-renewal and senescence in DS, and suggest that inhibiting or reducing HSA21 may be beneficial in treating the sequelae of DS. PMID:24076652

  13. Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS).

    Science.gov (United States)

    Teachey, David T; Manno, Catherine S; Axsom, Kelly M; Andrews, Timothy; Choi, John K; Greenbaum, Barbara H; McMann, Joseph M; Sullivan, Kathleen E; Travis, Susan F; Grupp, Stephan A

    2005-03-15

    Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of disrupted lymphocyte homeostasis. Clinical manifestations of ALPS vary but typically include autoimmune cytopenias, organomegaly, lymphadenopathy, and increased risk of malignancies. A similar spectrum of symptoms may be seen in some patients with Evans syndrome (ES), a hematologic disorder defined by autoimmune destruction of at least 2 hematologic cell types. We hypothesized that a subset of patients diagnosed with ES may have ALPS. We screened 12 children with ES by flow cytometric analysis for CD4-/CD8- (double negative) T cells (DNTs) and with the definitive test for ALPS, defective in vitro Fas-mediated apoptosis. Six of the patients had elevated DNTs, suggestive of ALPS and also had defective Fas-mediated apoptosis. The other 6 patients displayed normal T-cell apoptosis; 5 of whom had normal DNTs, and 1 had a borderline result. Thus, 7 (58%) of 12 patients with ES had elevated DNTs suggestive of ALPS, with functional confirmation in 6 of 7. This suggests that analysis of DNTs may be a sensitive first-line screening test, serving as a marker of patients who should undergo definitive testing for ALPS. Our data further suggest that a number of patients with ES may have ALPS, a novel finding with important therapeutic implications.

  14. Comparación del perfil de expresión proteíco entre nevus y melanoma

    OpenAIRE

    2011-01-01

    El nevus melanocítico es una proliferación anormal pero benigna de los melanocitos de la piel que tienden a agruparse en nidos o tecas. Su importancia radica en su posible relación con el melanoma como simulador, marcador de riesgo o posible precursor. De entre todos, los nevus displásicos y los congénitos, especialmente los gigantes, son los de mayor potencial maligno. Los nevus displásicos y los de Spitz son los que más comúnmente se confunden con melanomas. El melanoma es el cáncer d...

  15. Phakomatosis cesioflammea with late-onset glaucoma and acquired nevus spilus-like lesion - 15 years of follow-up.

    Science.gov (United States)

    Chiu, Hsiu-Hui; Chen, Gwo-Shing; Wu, Chieh-Shan; Ke, Chiao-Li Khale; Cheng, Shih-Tsung

    2009-04-01

    Phakomatosis pigmentovascularis is a very rare disease characterized by coexistence of a capillary malformation with various melanocytic lesions, including dermal melanocytosis (Mongolian spots), nevus spilus, and nevus of Ota. As of now about 200 cases have been reported, most are of Japanese origin and about half of reported cases are associated with various systemic involvement. We present a 15-year-old Taiwanese male with phakomatosis cesioflammea who developed, during adolescence, a nevus spilus-like lesion and late-onset open angle glaucoma, suggesting that long-term ophthalmic follow-up is necessary in this type of patient.

  16. Phakomatosis pigmentovascularis presenting with Sturge-Weber syndrome and Klippel-Trenaunay syndrome

    Directory of Open Access Journals (Sweden)

    Sumit Sen

    2015-01-01

    Full Text Available Phakomatosis pigmentovascularis (PPV is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype ′a′ present only with cutaneous form and subtype ′b′ also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination.

  17. Phakomatosis Pigmentovascularis Presenting with Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome

    Science.gov (United States)

    Sen, Sumit; Bala, Sanchaita; Halder, Chinmay; Ahar, Rahul; Gangopadhyay, Anusree

    2015-01-01

    Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype ‘a’ present only with cutaneous form and subtype ‘b’ also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination. PMID:25657402

  18. Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation

    DEFF Research Database (Denmark)

    Born, Alfred Peter; Müller, Klaus; Marquart, Hanne Vibeke;

    2010-01-01

    Griscelli syndrome is an autosomal recessive disorder characterized by pigmentary dilution and is occasionally associated with a hemophagocytic syndrome (type 2). We present a 13-year-old girl with Griscelli syndrome type 2, who developed a hemophagocytic syndrome along with marked muscle weakness...... and elevated plasma creatine kinase. Muscle biopsy showed massive inflammatory changes in some fascicles, while other fascicles were relatively spared. Clinical symptoms and biopsy changes resolved after immunosuppression and allogeneic hematopoietic cell transplantation. Our results suggest that muscle...

  19. Cerebral gigantism associated with jaw cyst basal cell naevoid syndrome in two families.

    Science.gov (United States)

    Cramer, H; Niederdellmann, H

    1983-01-01

    We report 9 subjects from 2 families with the syndrome of cerebral gigantism, seven of the patients also had jaw cyst basal cell naevoid syndrome. Neurological, radiological, somatic and biochemical features of this hitherto unreported association are described. Neurological symptoms included mild hydrocephalus, ventricular malformation, cerebellar syndrome, intracranial calcification, oculomotor disturbances, EEG abnormalities and rarely, mild peripheral nervous disorders. A disturbance of calcium metabolism appears to be a prominent feature of the genetically determined nonprogressive syndrome.

  20. Coexistence of congenital giant melanocytic nevus of the scalp with cranial defect, poliosis, and hair loss.

    Science.gov (United States)

    Lee, Woo J; Lee, Sang M; Won, Chong H; Chang, Sung E; Lee, Mi W; Choi, Jee H; Moon, Kee C

    2013-01-01

    Congenital melanocytic nevi (CMN) are pigmented lesions presenting on the skin in approximately 1% of all newborns at or shortly after birth. CMN have been described as being associated with several anomalies, including cranial bone hypertrophy, scoliosis, and spina bifida. This is the first report to describe a giant congenital melanocytic nevus on the scalp associated with cranial involvement, poliosis, and alopecia.

  1. Immunohistochemical differentiation between inflammatory linear verrucous epidermal nevus (ILVEN) and psoriasis.

    NARCIS (Netherlands)

    Vissers, W.H.P.M.; Muys, L.; Erp, P.E.J. van; Jong, E.M.G.J. de; Kerkhof, P.C.M. van de

    2004-01-01

    Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disorder with a clinical and histological resemblance to psoriasis. In the past clinical and histological criteria have been defined. However, there remains a discussion as to whether ILVEN is a disease entity distinct from linear

  2. Stem cell depletion in Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Rosengardten, Ylva; McKenna, Tomás; Grochová, Diana; Eriksson, Maria

    2011-12-01

    Hutchinson-Gilford progeria syndrome (HGPS or progeria) is a very rare genetic disorder with clinical features suggestive of premature aging. Here, we show that induced expression of the most common HGPS mutation (LMNA c.1824C>T, p.G608G) results in a decreased epidermal population of adult stem cells and impaired wound healing in mice. Isolation and growth of primary keratinocytes from these mice demonstrated a reduced proliferative potential and ability to form colonies. Downregulation of the epidermal stem cell maintenance protein p63 with accompanying activation of DNA repair and premature senescence was the probable cause of this loss of adult stem cells. Additionally, upregulation of multiple genes in major inflammatory pathways indicated an activated inflammatory response. This response has also been associated with normal aging, emphasizing the importance of studying progeria to increase the understanding of the normal aging process.

  3. ROLE AND TIMING OF HEMATOPOIETIC CELL TRANSPLANTATION FOR MYELODYSPLASTIC SYNDROME

    Directory of Open Access Journals (Sweden)

    Teresa L Field

    2010-07-01

    Full Text Available Allogeneic hematopoietic cell transplantation (HCT is the only curative treatment for patients with myelodysplastic syndromes (MDS.  Most patients with MDS are older than 60 years and age-associated morbidities limit the patients’ options for curative transplant therapy.  Since the development of conditioning regimens with reduced toxicity, the age limitations for HCT have waned for those patients with good performance status. This review will discuss the role of HCT for MDS based on prognostic features, the optimal timing of HCT, and outcomes based on patient age.

  4. Natural killer cells in intravenous drug abusers with lymphadenopathy syndrome.

    Science.gov (United States)

    Poli, G; Introna, M; Zanaboni, F; Peri, G; Carbonari, M; Aiuti, F; Lazzarin, A; Moroni, M; Mantovani, A

    1985-01-01

    We have investigated 25 intravenous drug abusers with the clinical and laboratory features of lymphadenopathy syndrome (LAS) and 10 AIDS patients for the expression of NK activity. LAS and AIDS patients had low NK cytotoxicity compared to normal donors. The defective NK cytotoxicity was analysed in the eight LAS subjects with most marked depression. NK effectors were identified by morphology (large granular lymphocytes, LGL) and monoclonal antibody-defined surface markers (B73.1, N901, HNK1). LAS patients had normal percentages of LGL and B73.1+ and N901+ cells. with the exception of two subjects with very low frequency of B73.1+ and N901+ cells. The percentage of HNK1+ cells was increased in LAS, probably because of the reactivity of this reagent with a subset of conventional OKT8+ cells, relatively augmented in LAS subjects. Depletion of monocytes did not enhance NK activity consistently. LAS patients had a normal frequency of cells capable of binding K562. In-vitro exposure to interferon beta (natural) or gamma (recombinant) augmented the defective NK activity of LAS subjects. Thus, patients with LAS have defective NK activity that cannot be accounted for by a low frequency of the relevant effector cells or by monocytic suppressors. These observations suggest a functional defect of NK cells at one or more of the post-binding steps required for the completion of killing. PMID:2415279

  5. The Role of Mast Cells in Irritable Bowel Syndrome

    Directory of Open Access Journals (Sweden)

    Kang Nyeong Lee

    2016-01-01

    Full Text Available Irritable bowel syndrome (IBS is one of the most common functional gastrointestinal disorders, but its treatment is unsatisfactory as its pathophysiology is multifactorial. The putative factors of IBS pathophysiology are visceral hypersensitivity and intestinal dysmotility, also including psychological factors, dysregulated gut-brain axis, intestinal microbiota alterations, impaired intestinal permeability, and mucosal immune alterations. Recently, mucosal immune alterations have received much attention with the role of mast cells in IBS. Mast cells are abundant in the intestines and function as intestinal gatekeepers at the interface between the luminal environment in the intestine and the internal milieu under the intestinal epithelium. As a gatekeeper at the interface, mast cells communicate with the adjacent cells such as epithelial, neuronal, and other immune cells throughout the mediators released when they themselves are activated. Many studies have suggested that mast cells play a role in the pathophysiology of IBS. This review will focus on studies of the role of mast cell in IBS and the limitations of studies and will also consider future directions.

  6. Spitz nevus and Reed nevus Nevo de Spitz e nevo de Reed

    Directory of Open Access Journals (Sweden)

    Alessandra Yoradjian

    2012-06-01

    Full Text Available Spitz and Reed nevi, also called spindle and/or epithelioid cell nevi, are a special group of melanocytic lesions due to their peculiar clinical, dermoscopic and histopathological features. The study of these nevi is of great interest because both their nomenclature and classification are still a matter of discussion. Most importantly, the difficulty to differentiate them from melanoma can lead to inadequate therapies. In this context, dermoscopy, a link between clinical and anatomopathological examinations, appears as a helpful diagnostic tool whose accuracy can reach 93%. "Borderline" lesions are still a great challenge and object of research, including molecular studies. The present study explores the relevant characteristics of these nevi, with emphasis on dermoscopic findings, aiming at understanding their natural history, as well as discussing treatment and patient follow-up.Os nevos de Spitz e de Reed, ou também chamados nevos de células fusiformes e/ou epitelióides, formam um grupo especial de lesões melanocíticas, por suas características peculiares, tanto clínicas como dermatoscópicas e histopatológicas. Torna-se grande o interesse no estudo desses nevos, pois tanto a nomenclatura como a classificação ainda são motivos de debate e, sobretudo, a dificuldade de diferenciação com o melanoma pode gerar condutas terapêuticas inadequadas. Neste contexto, surge a dermatoscopia, elo entre o exame clínico e o anatomopatológico, como método diagnóstico auxiliar importante cuja acurácia pode chegar a 93%. A grande dificuldade ainda são as lesões "borderline", motivo de pesquisas, incluindo estudos moleculares. O presente estudo aborda os aspectos relevantes das características destes nevos, com ênfase nos achados dermatoscópicos, buscando o entendimento da sua história natural, além da discussão quanto ao tratamento e seguimento dos pacientes.

  7. Cell death as a possible mechanism for tissue limited mosaicism in Pallister-Killian syndrome.

    Science.gov (United States)

    Tang, Wozhan; Wenger, Sharon L

    2005-01-01

    Pallister-Killian syndrome is a chromosomal mosaic syndrome with a normal and an isochromosome 12p cell line, the latter rarely seen in peripheral blood. The isochromosome 12p cell line decreases with serial passages of fibroblasts in vitro and with age of patient in vivo. To evaluate cell death as a possible mechanism for loss of the abnormal cell line, amniocytes from a fetus with Pallister-Killian syndrome were identified as normal or aneuploid using a chromosome 12 alpha-satellite DNA probe by fluorescent in situ hybridization (FISH) and then subsequently stained with Annexin V, which stains the cytoplasm of cells that are dying. Although not conclusive, our preliminary results suggest that the abnormal cell line is going through apoptosis or necrosis at a higher rate than normal cells. Cell death may be a possible mechanism for decrease of the aneuploid cell line in patients with Pallister-Killian syndrome.

  8. Irritable bowel syndrome - An inflammatory disease involving mast cells.

    Science.gov (United States)

    Philpott, Hamish; Gibson, Peter; Thien, Frank

    2011-04-01

    Irritable bowel syndrome (IBS) is traditionally defined as a functional disorder - that is the presence of symptoms in the absence of demonstrable pathological abnormalities. In recent times, low grade inflammatory infiltrates in both the small and large bowel of some patients with IBS - often rich in mast cells, along with serological markers of low grade inflammation have focussed attention on IBS as an inflammatory disease. The observation that mast cells often lie in close association to enteric neurons, and in-vitro and in-vivo animal studies demonstrating that mast cell mediators may influence enteric motility provides a biologically plausible causal mechanism in IBS. Pilot studies on patients with IBS using the mast cell stabiliser sodium cromoglycate ('proof of concept') have been encouraging. The essential question remains why mast cells infiltrate the bowel of IBS patients. A disturbance of the 'brain-gut axis' is the current favoured hypothesis, whereby childhood stress or psychiatric comorbidity act via neuro-immune mechanisms to modulate low grade inflammation. An alternative hypothesis is that food allergy may be responsible. Serum specific IgE, and skin prick tests are not elevated in IBS patients, suggesting type 1 IgE mediated food allergy is not the cause. However questionnaire based studies indicate IBS patients have higher rates of atopic disease, and increased bronchial reactivity to methacholine has been demonstrated. In this review, we highlight the potential role of mast cells in IBS, and current and future research directions into this intriguing condition.

  9. Treatment of nevoid basal cell carcinoma syndrome: a case report

    Science.gov (United States)

    2016-01-01

    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is characterized by various embryological deformities and carcinoma formation. It is caused by PTCHI gene mutations and is autosomal dominantly inherited. Some of the main symptoms of NBCCS are multiple basal cell carcinomas, multiple keratocystic odontogenic tumors (KCOTs) of the mandible, hyperkeratosis of the palmar and plantar, skeletal deformity, calcification of the falx cerebri, and facial defomity. Recurrent KCOT is the main symptom of NBCCS and is present in approximately 90% of patients. In NBCCS, KCOTs typically occur in multiples. KCOTs can be detected in patients under the age of 10, and new and recurring cysts develop until approximately the age of 30. The postoperation recurrence rate is approximately 60%. This case report presents a 14-year-old female patient with a chief complaint of a cyst found in the maxilla and mandible. The patient was diagnosed with NBCCS, and following treatment of marsupialization and enucleation, the clinical results were satisfactory. PMID:27847737

  10. Prognostic value of circulating CD34+ cells in myelodysplastic syndromes.

    Science.gov (United States)

    Cesana, Clara; Klersy, Catherine; Brando, Bruno; Nosari, Annamaria; Scarpati, Barbara; Scampini, Linda; Molteni, Alfredo; Nador, Guido; Santoleri, Luca; Formenti, Marta; Valentini, Marina; Mazzone, Antonino; Morra, Enrica; Cairoli, Roberto

    2008-11-01

    We studied circulating (C)CD34(+) cells by flow cytometry in 96 patients with myelodysplastic syndromes (MDS) at diagnosis, and in a subset of 35 cases during follow-up. CCD34(+) counts were stratified within both International Prognostic Scoring System (IPSS) and World Health Organization (WHO) categories. Counts >10/microl were associated with poorer leukemia-free survival, a prognostic value for evolution independent from that of WHO, and a higher progression probability within intermediate-risk IPSS and WHO classes. When serial measurements were performed, counts >10/microl more frequently correlated to evolution. Separating newly diagnosed patients on the basis of 10/microl cut-off of circulating CD34(+) cells retains prognostic utility, especially in intermediate-risk MDS.

  11. Proximal Tubule Cell Hypothesis for Cardiorenal Syndrome in Diabetes

    Directory of Open Access Journals (Sweden)

    Akihiko Saito

    2011-01-01

    Full Text Available Incidence of cardiovascular disease (CVD is remarkably high among patients with chronic kidney disease (CKD, even in the early microalbuminuric stages with normal glomerular filtration rates. Proximal tubule cells (PTCs mediate metabolism and urinary excretion of vasculotoxic substances via apical and basolateral receptors and transporters. These cells also retrieve vasculoprotective substances from circulation or synthesize them for release into the circulation. PTCs are also involved in the uptake of sodium and phosphate, which are critical for hemodynamic regulation and maintaining the mineral balance, respectively. Dysregulation of PTC functions in CKD is likely to be associated with the development of CVD and is linked to the progression to end-stage renal disease. In particular, PTC dysfunction occurs early in diabetic nephropathy, a leading cause of CKD. It is therefore important to elucidate the mechanisms of PTC dysfunction to develop therapeutic strategies for treating cardiorenal syndrome in diabetes.

  12. Disease: H00895 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00895 Basal cell nevus syndrome; Nevoid basal cell carcinoma syndrome; Gorlin synd...ano R, Marzocchi C, Garre ML, Clementi M, Scarra GB Identification of a SUFU germline mutation in a family with Gorlin...ion) Shivaswamy KN, Sumathy TK, Shyamprasad AL, Ranganathan C Gorlin syndrome or basal cell nevus syndrome (

  13. Study on phenotypic and cytogenetic characteristics of bone marrow mesenchymal stem cells in myelodysplastic syndromes

    Institute of Scientific and Technical Information of China (English)

    宋陆茜

    2013-01-01

    Objective To investigate phenotype,cell differentiation and cytogenetic properties of bone marrow(BM) mesenchymal stem cells(MSC)separated from the myelodysplastic syndrome(MDS) patients,and to analyze cytogenetic

  14. Studies on the radiosensitivity of cells from patients with basal cell naevus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Featherstone, T.; Taylor, A.M.; Harnden, D.G.

    1983-01-01

    No difference in survival was observed between cultured cells from basal cell naevus syndrome (BCNS) patients and normal controls following exposure of fibroblasts to ionizing radiation. Potential lethal damage repair in BCNS cells, measured by holding experiments, was also no different from normal. G0-irradiated lymphocytes from BCNS patients were found to have a significantly higher level of X-ray-induced chromosome aberrations compared with normals. This increase is, however, small, and, taken together with the survival data, suggests that increased cell killing as a measure of the unusual clinical radiosensitivity is not the major effect of the BCNS gene.

  15. Angioimmunoblastic T-Cell Lymphoma in a Patient with Klinefelter Syndrome.

    Science.gov (United States)

    Park, Yong Tae; Park, Chan-Ho; Bae, Mi Ae; Jung, Hwa Sik; Lee, Youn Im; Lim, Ji-Hun; Cha, Hee Jeong; Seo, Min Jung; Park, Seol Hoon; Choi, Yunsuk; Kim, Hawk; Jo, Jae-Cheol

    2016-07-25

    BACKGROUND Although patients with Klinefelter syndrome have elevated risk and incidence rates for several solid cancers, reports on the incidence of hematological malignancies have been equivocal. CASE REPORT We report a patient diagnosed with angioimmunoblastic T-cell lymphoma in whom Klinefelter syndrome was newly detected. Moreover, we discuss the development of a variety of lymphomas in patients with Klinefelter syndrome. CONCLUSIONS This is the first case describing angioimmunoblastic T-cell lymphoma in a patient with Klinefelter syndrome who was treated with chemotherapy.

  16. Sheehan's syndrome and sickle cell disease: the story of Natasha.

    Science.gov (United States)

    Wilson, Barbara A; Rose, Anita; Florschutz, Gerhard

    2016-11-17

    Sheehan's syndrome (SS) is one of the pituitary disorders caused by severe blood loss during childbirth leading to necrosis of the pituitary gland. Diagnosis is made following severe haemorrhage, failure to produce milk and failure to menstruate. Rare in countries with good obstetric care, SS is still frequent in those countries with poor healthcare services. The majority of papers published on SS do not mention psychological or neuropsychological sequelae. Of those that do, mood disorders are sometimes reported and occasionally cognitive problems are noted, typically attention, memory or executive deficits. We report on Natasha, a British woman of Caribbean ancestry with sickle cell disease (SCD), diagnosed at age 33 years with SS following the birth of her second child. We know of no reports of a person with both SCD and SS. Natasha has been seen regularly for neuropsychological assessment and treatment for over two years. There has been a slight increase in her cognitive functioning but she remains with Balint's syndrome, so is unable to read. Treatment for this has been partially successful. Natasha presented with psychotic type symptoms when first seen but these have improved to a large extent. We believe that these symptoms are consistent with SS but the severe cognitive problems are more likely to be due to the strokes she suffered at the time of the haemorrhage and, possibly, to hypoxic damage caused by very low blood pressure.

  17. Recurrent thymoma with stiff-person syndrome and pure red blood cell aplasia.

    Science.gov (United States)

    Kobayashi, Rei; Kaji, Masahiro; Horiuchi, Sho; Miyahara, Naofumi; Hino, Yumi; Suemasu, Keiichi

    2014-05-01

    Stiff-person syndrome (formerly known as stiff-man syndrome) is a very rare autoimmune and neurogenic disorder, thought to present as a paraneoplastic variant in association with thymoma. Pure red blood cell aplasia is also a paraneoplastic disorder associated with thymoma. Although separate cases of stiff-person syndrome and pure red blood cell aplasia have been reported, we describe here what is to our knowledge the first case of recurrent thymoma with both stiff-person syndrome and pure red blood cell aplasia. We describe the successful treatment of the neurogenic symptoms of stiff-person syndrome and the progressive anemia associated with pure red blood cell aplasia by tumor excision.

  18. Basal Cell Carcinomas in Gorlin Syndrome: A Review of 202 Patients

    Directory of Open Access Journals (Sweden)

    Elizabeth A. Jones

    2011-01-01

    Full Text Available Gorlin syndrome (Naevoid Basal Cell Carcinoma Syndrome is a rare autosomal dominant syndrome caused by mutations in the PTCH gene with a birth incidence of approximately 1 in 19,000. Patients develop multiple basal cell carcinomas of the skin frequently in early life and also have a predisposition to additional malignancies such as medulloblastoma. Gorlin Syndrome patients also have developmental defects such as bifid ribs and other complications such as jaw keratocysts. We studied the incidence and frequency of basal cell carcinomas in 202 Gorlin syndrome patients from 62 families and compared this to their gender and mutation type. Our data suggests that the incidence of basal cell carcinomas is equal between males and females and the mutation type cannot be used to predict disease burden.

  19. Mitochondrial abnormalities drive cell death in Wolfram syndrome 2

    Institute of Scientific and Technical Information of China (English)

    Tomotake Kanki; Daniel J Klionsky

    2009-01-01

    @@ Wolfram syndrome (WFS; MIM 222300) is an autosomal recessive disorder with highly variable clinical manifestations. It is characterized by di-abetes insipidus, diabetes mellitus, optic atrophy, and deafness (thus, known as DIDMOAD syndrome) [1].

  20. Molecular analyses of neurogenic defects in a human pluripotent stem cell model of fragile X syndrome.

    Science.gov (United States)

    Boland, Michael J; Nazor, Kristopher L; Tran, Ha T; Szücs, Attila; Lynch, Candace L; Paredes, Ryder; Tassone, Flora; Sanna, Pietro Paolo; Hagerman, Randi J; Loring, Jeanne F

    2017-01-29

    New research suggests that common pathways are altered in many neurodevelopmental disorders including autism spectrum disorder; however, little is known about early molecular events that contribute to the pathology of these diseases. The study of monogenic, neurodevelopmental disorders with a high incidence of autistic behaviours, such as fragile X syndrome, has the potential to identify genes and pathways that are dysregulated in autism spectrum disorder as well as fragile X syndrome. In vitro generation of human disease-relevant cell types provides the ability to investigate aspects of disease that are impossible to study in patients or animal models. Differentiation of human pluripotent stem cells recapitulates development of the neocortex, an area affected in both fragile X syndrome and autism spectrum disorder. We have generated induced human pluripotent stem cells from several individuals clinically diagnosed with fragile X syndrome and autism spectrum disorder. When differentiated to dorsal forebrain cell fates, our fragile X syndrome human pluripotent stem cell lines exhibited reproducible aberrant neurogenic phenotypes. Using global gene expression and DNA methylation profiling, we have analysed the early stages of neurogenesis in fragile X syndrome human pluripotent stem cells. We discovered aberrant DNA methylation patterns at specific genomic regions in fragile X syndrome cells, and identified dysregulated gene- and network-level correlates of fragile X syndrome that are associated with developmental signalling, cell migration, and neuronal maturation. Integration of our gene expression and epigenetic analysis identified altered epigenetic-mediated transcriptional regulation of a distinct set of genes in fragile X syndrome. These fragile X syndrome-aberrant networks are significantly enriched for genes associated with autism spectrum disorder, giving support to the idea that underlying similarities exist among these neurodevelopmental diseases.

  1. Genetic evolution of nevus of Ota reveals clonal heterogeneity acquiring BAP1 and TP53 mutations.

    Science.gov (United States)

    Vivancos, Ana; Caratú, Ginevra; Matito, Judit; Muñoz, Eva; Ferrer, Berta; Hernández-Losa, Javier; Bodet, Domingo; Pérez-Alea, Mileidys; Cortés, Javier; Garcia-Patos, Vicente; Recio, Juan A

    2016-03-01

    Melanoma presents molecular alterations based on its anatomical location and exposure to environmental factors. Due to its intrinsic genetic heterogeneity, a simple snapshot of a tumor's genetic alterations does not reflect the tumor clonal complexity or specific gene-gene cooperation. Here, we studied the genetic alterations and clonal evolution of a unique patient with a Nevus of Ota that developed into a recurring uveal-like dermal melanoma. The Nevus of Ota and ulterior lesions contained GNAQ mutations were c-KIT positive, and tumors showed an increased RAS pathway activity during progression. Whole-exome sequencing of these lesions revealed the acquisition of BAP1 and TP53 mutations during tumor evolution, thereby unmasking clonal heterogeneity and allowing the identification of cooperating genes within the same tumor. Our results highlight the importance of studying tumor genetic evolution to identify cooperating mechanisms and delineate effective therapies.

  2. Myelodysplastic syndrome evolving from aplastic anemia treated with immunosuppressive therapy: efficacy of hematopoietic stem cell transplantation.

    Science.gov (United States)

    Kim, Sung-Yong; Le Rademacher, Jennifer; Antin, Joseph H; Anderlini, Paolo; Ayas, Mouhab; Battiwalla, Minoo; Carreras, Jeanette; Kurtzberg, Joanne; Nakamura, Ryotaro; Eapen, Mary; Deeg, H Joachim

    2014-12-01

    A proportion of patients with aplastic anemia who are treated with immunosuppressive therapy develop clonal hematologic disorders, including post-aplastic anemia myelodysplastic syndrome. Many will proceed to allogeneic hematopoietic stem cell transplantation. We identified 123 patients with post-aplastic anemia myelodysplastic syndrome who from 1991 through 2011 underwent allogeneic hematopoietic stem cell transplantation, and in a matched-pair analysis compared outcome to that in 393 patients with de novo myelodysplastic syndrome. There was no difference in overall survival. There were no significant differences with regard to 5-year probabilities of relapse, non-relapse mortality, relapse-free survival and overall survival; these were 14%, 40%, 46% and 49% for post-aplastic anemia myelodysplastic syndrome, and 20%, 33%, 47% and 49% for de novo myelodysplastic syndrome, respectively. In multivariate analysis, relapse (hazard ratio 0.71; P=0.18), non-relapse mortality (hazard ratio 1.28; P=0.18), relapse-free survival (hazard ratio 0.97; P=0.80) and overall survival (hazard ratio 1.02; P=0.88) of post-aplastic anemia myelodysplastic syndrome were similar to those of patients with de novo myelodysplastic syndrome. Cytogenetic risk was independently associated with overall survival in both groups. Thus, transplant success in patients with post-aplastic anemia myelodysplastic syndrome was similar to that in patients with de novo myelodysplastic syndrome, and cytogenetics was the only significant prognostic factor for post-aplastic anemia myelodysplastic syndrome patients.

  3. Lactobacillus in Preventing Infection in Patients Undergoing a Donor Stem Cell Transplant for Hematologic Cancer or Myelodysplastic Syndrome

    Science.gov (United States)

    2017-02-02

    Breast Cancer; Chronic Myeloproliferative Disorders; Leukemia; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Myelodysplastic Syndromes; Myelodysplastic/Myeloproliferative Neoplasms; Neuroblastoma; Ovarian Cancer; Testicular Germ Cell Tumor

  4. Sertoli cell only syndrome: Status of sertoli cell maturation and function

    Directory of Open Access Journals (Sweden)

    Manish Jain

    2012-01-01

    Full Text Available Background of the study: Mature and functional Sertoli cells are essential for the survival of germ cells in testes. In Sertoli cell only syndrome (SCOS, there is no germ cells. Then, question arises whether absence of germ cells in SCOS secondary to Sertoli cells immaturity or mal function. Sertoli cells maturational and functional status is unclear in SCOS. This study investigated status of maturation and function of Sertoli cells in patients with SCOS. Materials and Methods: The present study was comprised of 37 cases of SCOS and 50 normal control males. Detailed clinical examination and investigation were carried out as per pre-determined proforma. Semen analysis, hormonal analysis (FSH, LH, testosterone, etc., and fine needle aspiration cytology (FNAC of testes (bilateral were performed. Fluorescence in situ hybridization (FISH with XY probes was carried out in addition to conventional chromosome analysis to find out chromosomal abnormalities, in particular sex chromosome aneuploidy, including mosaicism. Yq microdeletion status was also investigated. The anti-mullerian hormone (AMH, inhibin B, and seminal lactate were estimated by ELISA methods. Results: The study did not find any case of high AMH. About 78% cases had low inhibin B, and 60% had low AMH. FSH was high in about 78% cases. Low level of lactate was found in 49% cases. There was one case of high level of inhibin B. There were 6 (16.2% cases of chromosomal abnormality (2 mosaic Klinefelter and 4 Klinefelter syndrome and 4 (10.8% cases of Yq microdeletion. Conclusion: We conclude that Sertoli cell immaturity does not play any role in SCOS (no case of high AMH. It seems, in majority cases, Sertoli cells are functionally- and/or numerically-deficient (low inhibin B, AMH and lactate. However, in about 22% cases, Sertoli cell function and/or number remains normal (normal inhibin B, AMH. Inhibin B and FSH seems best predictor/marker of Sertoli cell function.

  5. Comparison of acquired bilateral nevus of Ota-like macules in men and women

    Directory of Open Access Journals (Sweden)

    Woo Jin Lee

    2014-01-01

    Full Text Available Background: The clinical and histopathological characteristics of acquired bilateral nevus of Ota-like macules in men are poorly documented due to its rarity. Aims: To compare the clinical and histopathological characteristics of acquired bilateral nevus of Ota-like macules in men with the condition in women. Methods: We studied 11 men and 62 women, all with a clinical diagnosis of acquired bilateral nevus of Ota-like macules. Biopsies were taken from 5 men and 10 women and their clinical and histopathological features were compared. Results: The most frequently affected site in men was the forehead [8 (73% out of 11 patients]. Lesions on the forehead were more common in men than women (P = 0.001. In contrast to women, there was no apparent tendency of the lesions to become more blue with age in men. Concurrent melasma was observed in 14 (23% out of 62 women, but not in men. Extra-facial acquired dermal melanocytosis was noted in 2 (18% out of 11 men and in none of the 62 women. Conclusion: Significant differences were noted between men and women in the appearance of concurrent pigmentary lesions and the distribution of lesions. Extra-facial acquired dermal melanocytosis was noted in men.

  6. Mast Cell Activation Syndrome: Proposed Diagnostic Criteria: Towards a global classification for mast cell disorders

    OpenAIRE

    2010-01-01

    The term “mast cell activation syndrome (MCAS)” is finding increasing use as a diagnosis for individuals who present with signs and symptoms involving the dermis, gastrointestinal track and cardiovascular system; frequently accompanied by neurologic complaints. Such patients often have undergone multiple extensive medical evaluations by different physicians in varied disciplines without a definitive medical diagnosis until the diagnosis of “MCAS” is applied. However, “MCAS” as a distinct clin...

  7. "Person in the barrel" syndrome: Unusual heralding presentation of squamous cell carcinoma of the lung

    Directory of Open Access Journals (Sweden)

    Rajesh Verma

    2016-01-01

    Full Text Available Paraneoplastic neurological syndromes (PNS are rare and relatively unusual in day to day clinical practice. Occasionally, PNS may be the heralding manifestation of the malignancy. Paraneoplastic syndromes are most commonly associated with small cell lung carcinoma and are rarely seen with non small cell lung carcinoma. In this case, we report a non-smoker, middle aged lady, who presented with "person in the barrel" syndrome due to myelo radiculoplexopathy as the first clinical manifestation of squamous cell carcinoma of the lung.

  8. 3. Chromosomal instability in B-lymphoblasotoid cell lines from Werner's and Bloom's syndrome patients

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    @@Werner's syndrome (WS) and Bloom's syndrome (BS) are rare autosomal recessive diseases in which the feature of premature aging and the elevated risk of neoplasia may be associated with genomic instability. To cha-racterize the genomic instability of WS and BS, B-lymphoblastoid cell lines (LCLs) from WS and BS patients were cytogenetically analyzed, comparing to those from healthy donors. Although all

  9. Good syndrome presenting with CD8+ T-Cell large granular lymphocyte leukemia

    OpenAIRE

    Caperton, Caroline; Agrawal, Sudhanshu; Gupta, Sudhir

    2015-01-01

    Good Syndrome is an adult-onset combined immunodeficiency defined by hypogammaglobulinemia, low or absent number of B cells, T cell deficiency and thymic tumor. We have characterized CD8+ T cells from a patient with Good syndrome that presented with CD8+T-cell large granular lymphocytic leukemia (LGL). Characterization of peripheral blood CD8+ T cells revealed that majority of CD8+ T cells were terminally differentiated effector memory phenotype (TEMRA; CD8+CCR7-CD45RA+), and were PD-1high (C...

  10. Primary Sjogren%u2019s Syndrome Associated with Basal Cell Carcinoma: Case Report

    Directory of Open Access Journals (Sweden)

    Tugba Kosker

    2013-04-01

    Full Text Available Sjogren%u2019s syndrome is a chronic autoimmune disease characterized by xerostomia and xerophthalmia, known as the %u2018sicca symptoms%u2019. Patients with Sjogren%u2019s syndrome, characteristically have positive nuclear and cytoplasmic antigens, typically Anti-Ro/SSA and Anti-La/SSB because of lymphocytic infiltration of the exocrine glands. Patients with primary Sjogren%u2019s syndrome, develop systemic complications, non-Hodgkin lymphoma being the most feared of these. We describe here a case of Sjogren%u2019s syndrome with basal cell carcinoma, which presented with an ulcerated lesion on nasal dorsum.

  11. β-cell function is associated with metabolic syndrome in Mexican subjects

    Science.gov (United States)

    Baez-Duarte, Blanca G; Sánchez-Guillén, María Del Carmen; Pérez-Fuentes, Ricardo; Zamora-Ginez, Irma; Leon-Chavez, Bertha Alicia; Revilla-Monsalve, Cristina; Islas-Andrade, Sergio

    2010-01-01

    Aims The clinical diagnosis of metabolic syndrome does not find any parameters to evaluate the insulin sensitivity (IS) or β-cell function. The evaluation of these parameters would detect early risk of developing metabolic syndrome. The aim of this study is to determine the relationship between β-cell function and presence of metabolic syndrome in Mexican subjects. Material and methods This study is part of the Mexican Survey on the Prevention of Diabetes (MexDiab Study) with headquarters in the city of Puebla, Mexico. The study comprised of 444 subjects of both genders, aged between 18 and 60 years and allocated into two study groups: (1) control group of individuals at metabolic balance without metabolic syndrome and (2) group composed of subjects with metabolic syndrome and diagnosed according to the criteria of the Third Report of the National Cholesterol Education Program Expert Panel on Defection, Evaluation, and Treatment of High Blood Cholesterol in Adults. Anthropometric, biochemical, and clinical assessments were carried out. Results Average age of the subjects in the control group (n = 254) was 35.7 ± 11.5 years and 42.0 ± 10.7 years for subjects in the metabolic syndrome group (n = 190). Subjects at metabolic balance without metabolic syndrome showed decreased IS, increased insulin resistance (IR), and altered β-cell function. Individuals with metabolic syndrome showed a high prevalence (P ≤ 0.05) of family history of type 2 diabetes (T2D). This group also showed a significant metabolic imbalance with glucose and insulin levels and lipid profile outside the ranges considered safe to prevent the development of cardiovascular disease and T2D. Conclusion The main finding in this study was the detection of altered β-cell function, decreased IS, an increased IR in subjects at metabolic balance, and the progressive deterioration of β-cell function and IS in subjects with metabolic syndrome as the number of features of metabolic syndrome increases

  12. Oral features and dental health in Hurler Syndrome following hematopoietic stem cell transplantation.

    LENUS (Irish Health Repository)

    McGovern, Eleanor

    2010-09-01

    Hurler Syndrome is associated with a deficiency of a specific lysosomal enzyme involved in the degradation of glycosaminoglycans. Hematopoietic stem cell transplantation (HSCT) in early infancy is undertaken to help prevent the accumulation of glycosaminoglycans and improve organ function.

  13. Dermoscopy for the pediatric dermatologist, part ii: dermoscopy of genetic syndromes with cutaneous manifestations and pediatric vascular lesions.

    Science.gov (United States)

    Haliasos, Elena C; Kerner, Miryam; Jaimes, Natalia; Zalaudek, Iris; Malvehy, Josep; Lanschuetzer, Christoph M; Hinter, Helmut; Hofmann-Wellenhof, Rainer; Braun, Ralph P; Marghoob, Ashfaq A

    2013-01-01

    Genetic syndromes including basal cell nevus syndrome (BSNS), xeroderma pigmentosum (XP), and epidermodysplasia verruciformis (EV) predispose the individual to skin cancer. Basal cell carcinomas (BCCs) often develop in patients with BCNS and XP. One of the aims of surveillance examination in these patients is to detect BCC while the tumors are still small and easy to manage. Dermoscopy, by allowing the visualization of arborizing vessels, ovoid nests, nonaggregated blue-gray globules, and spoke-wheel and leaf-like structures, can facilitate in the early detection of BCC. Patients with XP are also at risk for developing squamous cell carcinoma (SCC). Dermoscopy can assist in the early detection of these cancers by allowing the observer to visualize focal glomerular vessels, which is a common feature seen in SCC. This feature can also assist in detecting SCC developing in other syndromes such as EV and epidermolysis bullosa (EB). In addition to helping in the detection of BCC and SCC, dermoscopy can also help detect melanoma in individuals with XP and evaluate nevi developing in those with EB. This review will discuss how dermoscopy can be used in the management of patients with BSNS, XP, EV, and EB and will discuss the dermoscopic findings of vascular lesions, including pyogenic granuloma, hemangioma, port-wine stain, and lymphangioma circumscriptum.

  14. Medical imaging findings in Cobb syndrome: two case reports

    Institute of Scientific and Technical Information of China (English)

    WANG Guang-bin; XU Lei; ZHAO Bin; CAI Shi-feng; SHI Hao; LI Hui-hua; QU Lei

    2005-01-01

    @@ Cobb syndrome, also known as cutaneomeningospinal angiomatosis, is a rare clinical entity characterized by the combination of a vascular skin nevus and an angioma in the spinal canal at the same metamere.1 It was first described by Berenbruch in 1890 and did not receive recognition until Cobb's description2 in 1915. Only few documents about this disease had been reported.1 We present two cases here and review the other reported cases.

  15. Clinical features of Sturge-Weber syndrome

    Directory of Open Access Journals (Sweden)

    Palheta Neto, Francisco Xavier

    2008-12-01

    Full Text Available Introduction: The Syndrome of Sturge-Weber is a rare condition of congenital development, and is characterized by a neurocutaneous disorder with angiomas wrapping the leptomeninges and the face skin, mainly in the course of ophthalmic (V1 and maxillary (V2 branches of the trigeminal nerve. Objective: To review the literature about the Sturge-Weber Syndrome with emphasis on the current aspects. Method: The following databases were searched: EMedicine, Encyclopedia of Medicine, FindArticles, LILACS, MEDLINE, Merck Manuals On-Line Medical Library and Scielo, and the searches applied the terms: Sturge-Weber Syndrome, neurocutaneous syndromes, encephalo-trigeminal angiomatosis, nevus flammeus, in articles published between 1991 and 2007. Literature's Review: The most characteristic clinical statement is the presence, since the birth, of nevus flammeus, that generally reaches one half of the face and may stretch out up to the neck; in addition, other clinical manifestations may be present, like the corticocerebral angiomatosis, cerebral calcifications, epilepsy, ocular and buccal affections and mental retardation. The diagnosis is established by means of the inquiry of neurological and ophthalmic alterations in patients with a characteristic nevus flammeus, allied to the clinical data of complementary exams such as Computerized Tomography. The treatment consists basically of controlling the already confirmed clinical manifestations and preventing from the appearing of other alterations, mainly buccal and ocular. Conclusion: This syndrome is not much frequent, but it needs to be early diagnosed, since it brings a series of complications to its carriers when not treated, specially because of reaching the Nervous Central System. The health professionals have to be suitably able to recognize its characteristic signs and symptoms, and so improve the quality of life of these patients.

  16. Impaired Sertoli cell function in males diagnosed with Noonan syndrome.

    NARCIS (Netherlands)

    Marcus, K.A.; Sweep, C.G.J.; Burgt, I van der; Noordam, C.

    2008-01-01

    In order to study male gonadal function in Noonan syndrome, clinical and laboratory data, including inhibin B, were gathered in nine pubertal males diagnosed with Noonan syndrome. Bilateral testicular maldescent was observed in four, and unilateral cryptorchidism occurred in two. Puberty was delayed

  17. The Alteration of the Epidermal Basement Membrane Complex of Human Nevus Tissue and Keratinocyte Attachment after High Hydrostatic Pressurization

    Directory of Open Access Journals (Sweden)

    Naoki Morimoto

    2016-01-01

    Full Text Available We previously reported that human nevus tissue was inactivated after high hydrostatic pressure (HHP higher than 200 MPa and that human cultured epidermis (hCE engrafted on the pressurized nevus at 200 MPa but not at 1000 MPa. In this study, we explore the changes to the epidermal basement membrane in detail and elucidate the cause of the difference in hCE engraftment. Nevus specimens of 8 mm in diameter were divided into five groups (control and 100, 200, 500, and 1000 MPa. Immediately after HHP, immunohistochemical staining was performed to detect the presence of laminin-332 and type VII collagen, and the specimens were observed by transmission electron microscopy (TEM. hCE was placed on the pressurized nevus specimens in the 200, 500, and 1000 MPa groups and implanted into the subcutis of nude mice; the specimens were harvested at 14 days after implantation. Then, human keratinocytes were seeded on the pressurized nevus and the attachment was evaluated. The immunohistochemical staining results revealed that the control and 100 MPa, 200 MPa, and 500 MPa groups were positive for type VII collagen and laminin-332 immediately after HHP. TEM showed that, in all of the groups, the lamina densa existed; however, anchoring fibrils were not clearly observed in the 500 or 1000 MPa groups. Although the hCE took in the 200 and 500 MPa groups, keratinocyte attachment was only confirmed in the 200 MPa group. This result indicates that HHP at 200 MPa is preferable for inactivating nevus tissue to allow its reuse for skin reconstruction in the clinical setting.

  18. Vulvar and Perianal Condyloma Superimposed Inflammatory Linear Verrucous Epidermal Nevus: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Sümeyra Nergız Avcioğlu

    2013-01-01

    Full Text Available Inflammatory linear verrucous epidermal nevus (ILVEN is a benign cutaneous hamartoma characterized by intensely erythematous, pruritic, and inflammatory papules that occur as linear bands along the lines of Blaschko. There is a considerable clinical and histological resemblance between ILVEN and linear psoriasis, lichen striatus, linear lichen planus, and invasion of epidermal nevus by psoriasis. The pathogenesis of ILVEN is unknown. It is regarded as a genetic dyskeratotic disease reflecting genetic mosaicism. Here, a case of vulvar and perianal condyloma superimposed ILVEN is presented.

  19. Concise Review: Methods and Cell Types Used to Generate Down Syndrome Induced Pluripotent Stem Cells

    Directory of Open Access Journals (Sweden)

    Youssef Hibaoui

    2015-04-01

    Full Text Available Down syndrome (DS, trisomy 21, is the most common viable chromosomal disorder, with an incidence of 1 in 800 live births. Its phenotypic characteristics include intellectual impairment and several other developmental abnormalities, for the majority of which the pathogenetic mechanisms remain unknown. Several models have been used to investigate the mechanisms by which the extra copy of chromosome 21 leads to the DS phenotype. In the last five years, several laboratories have been successful in reprogramming patient cells carrying the trisomy 21 anomaly into induced pluripotent stem cells, i.e., T21-iPSCs. In this review, we summarize the different T21-iPSCs that have been generated with a particular interest in the technical procedures and the somatic cell types used for the reprogramming.

  20. Hypermutable ligation of plasmid DNA ends in cells from patients with Werner syndrome.

    Science.gov (United States)

    Rünger, T M; Bauer, C; Dekant, B; Möller, K; Sobotta, P; Czerny, C; Poot, M; Martin, G M

    1994-01-01

    Werner Syndrome is a rare autosomal recessive disorder characterized by an increased cancer risk and by symptoms suggestive of premature aging. Cells from these patients demonstrate a typical pattern of chromosomal instability and a spontaneous hypermutability with a high rate of unusually large deletions. We have studied the in vivo DNA ligation in three lymphoblast cell lines from Werner syndrome patients and three from normal donors. In our host cell ligation assay we transfected linearized plasmid pZ189 and measured the amount of plasmid DNA ends rejoined by these host cells as the ability of the recovered plasmid to transform bacteria. A mutagenesis marker gene close to the ligation site allowed screening for mutations. Subsequent mutation analysis provided information about the accuracy of the ligation process. The cells from Werner syndrome patients were as effective as normal cells in ligating DNA ends. However, mutation analysis revealed that the three Werner syndrome cell lines introduced 2.4-4.6 times more mutations (p < 0.001) than the normal cell lines during ligation of the DNA ends: the mutation rates were 69.4, 97.2, and 58.7%, as compared to 23.6, 21.7, and 24.4% in the normal cell lines. These increased mutation frequencies in plasmids ligated during passage through Werner syndrome cells were mainly due to a significant (p < 0.001) increase in deletions. This error-prone DNA ligation might be responsible for the spontaneous hypermutability and the genomic instability in Werner syndrome cells and related to the apparently accelerated aging and high cancer risk in affected patients.

  1. Strong association between respiratory viral infection early after hematopoietic stem cell transplantation and the development of life-threatening acute and chronic alloimmune lung syndromes

    NARCIS (Netherlands)

    Versluys, A. Birgitta; Rossen, John W. A.; van Ewijk, Bart; Schuurman, Rob; Bierings, Marc B.; Boelens, Jaap J.

    2010-01-01

    Alloimmune lung syndromes (allo-LS), including idiopathic pneumonia syndrome, bronchiolitis obliterans syndrome, and bronchiolitis obliterans organizing pneumonia, are severe complications after hematopoietic stem cell transplantation (HSCT). In our cohort of 110 pediatric patients, 30 had allo-LS (

  2. A Case Report of Multiple Basal Cell Carcinoma Syndrome

    Directory of Open Access Journals (Sweden)

    A. Ansar

    2007-01-01

    Full Text Available Introduction: Nevoid BCC syndrome (Gorline syndrome is a familial disorder with autosomal dominant inheritense. This syndrome is combination of multiple BCC that occurs at an early age, characteristic faces with: frontal bossing, broad nasal bridge and hypertelorism, jaw cysts, palmoplanter pitting, macrocephaly, skeletal and spinal anomalies include bifid ribes, cervical rib and kyphoscoliosis, CNS abnormality include corpus callusom disgenesia , falx cerebri calcification(at early age and mental deficiency.Case Report: This case was a 25-years-old female presented with multiple and progressive skin lesions with different size in neck, upper trunk and axilla (multiple BCC, palmoplantar pitting, jaw cyst, cervical rib, bifid rib and liver haemangioma.Conclusion: With combination of clinical feature, histopathological reports of skin lesions and radiological reports of mandibular cyst and ribs anomalies, this case was diagnosed as nevoid BCC syndrome.

  3. Vismodegib hedgehog-signaling inhibition and treatment of basal cell carcinomas as well as keratocystic odontogenic tumors in Gorlin syndrome

    OpenAIRE

    Booms, Patrick; Harth, Marc; Sader, Robert; Ghanaati, Shahram

    2015-01-01

    Vismodegib hedgehog signaling inhibition treatment has potential for reducing the burden of multiple skin basal cell carcinomas and jaw keratocystic odontogenic tumors. They are major criteria for the diagnosis of Gorlin syndrome, also called nevoid basal cell carcinoma syndrome. Clinical features of Gorlin syndrome are reported, and the relevance of hedgehog signaling pathway inhibition by oral vismodegib for maxillofacial surgeons is highlighted. In summary, progressed basal cell carcinoma ...

  4. Polycystic ovary syndrome and the peripheral blood white cell count.

    LENUS (Irish Health Repository)

    Herlihy, A C

    2012-02-01

    This retrospective cross-sectional study examined if the white cell count (WCC) is increased in women with polycystic ovary syndrome (PCOS) and if so, is it due to PCOS or to the associated obesity? Body mass index (BMI) was calculated and body composition was measured using bioelectrical impedance analysis. Of the 113 women studied, 36 had PCOS and 77 did not. The mean WCC was higher in the PCOS group compared with the non-PCOS group (8.9 x 10(9)\\/l vs 7.4 x 10(9)\\/l p = 0.002). This increase was due to a higher neutrophil count (5.6 x 10(9)\\/l vs 4.3 x 10(9)\\/l; p = 0.003). There was a leucocytosis (WCC >11 x 10(9)\\/l) present in 19% of the PCOS group compared with 1% in the non-PCOS group (p < 0.001). The neutrophil count was abnormally high (>7.7 x 10(9)\\/l) in 14% of the PCOS group compared with 4% in the non-PCOS group (p < 0.001). On regression analysis, however, the only independent variable which explained both the increased WCC and the increased neutrophil count was PCOS. We found that PCOS is associated with an increased WCC due to increased neutrophils, which supports the evidence that PCOS is associated with low-grade inflammation. The increase appears to be due to the underlying PCOS, and not to the increased adiposity associated with PCOS.

  5. Coexistence of esophageal blue nevus, hair follicles and basaloid sqamous carcinoma: A case report

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    We present the case of a 57-year-old man who underwent esophagectomy for esophageal carcinoma found at barium meal and gastroscopic examination. He was diagnosed as esophageal basaloid squamous carcinoma (BSC) and gastric stromal tumor, which were associated with focal proliferation of melanocytes/ pigmentophages and hair follicles in esophageal mucosa. Melanocytic hyperplasia (melanocytosis) has previously been recognized as an occasional reactive lesion, which can accompany esophageal inflammation and invasive squamous carcinoma. The present case is unusual because of its hyperplasia of not only melanocytes but also hair follicles. To our knowledge, this is the first report of esophageal blue nevus and hair follicle coexisting with BSC.

  6. Analysis of 24 Cases of Becker's Nevus%Becker痣24例分析

    Institute of Scientific and Technical Information of China (English)

    李钟洙; 黄一锦; 张召力; 廖永强; 张海萍

    2012-01-01

    目的 探讨Becker痣的临床特点、合并症和组织病理表现.方法 回顾性分析24例Becker痣临床和病理资料.结果 24例均为散发病例,发病年龄主要集中在10 ~ 20岁(83.33%),发病部位以躯干前部和肩胛部居多(45.83%),典型皮损为较大的单侧分布的多毛的色素沉着斑,组织病理主要表现是表皮不同程度角化过度和棘层肥厚,表皮突较规则地向下延伸,基底层黑素颗粒增多,真皮网状层常见较大的形态不规则的平滑肌纤维束,伴有并发症共5例(20.83%).结论 根据Becker痣典型皮损特点结合组织病理表现临床可以确诊,但是做为一种遗传相关的错构瘤可伴发其他皮肤肌肉骨骼异常,需仔细探明.%Objective To survey the Clinical features, complications and pathological manifestations of Becker's nevus. Methods The clinical and pathological materials of 24 cases of Becker' s nevus were analysed retrospectively. Results All of 24 cases occurred sporadically. The age of onset was mainly around 10 — 20 years old (83. 33% ). The lesions were located predominantly on the anterior trunk or on the scapular region (45.83% ). The typical primary lesion was large, unilateral hyperpigmented patch with hypertrichosis. The histopathology showed varying degrees of hyperkeratosis and acanthosis of the epidermis, regular elongation of the rete ridges,and basal layer hyperpigmentation ,usually larger sized and irregularly formed smooth muscle fiber scattered haphazardly in reticular dermis. Five cases were associated with different kinds of complication (20. 83% ). Conclusion Becker's nevus can be confirmed on the basis of clinical features and pathological examination. As a genetic-related hamartoma, however, Becker' s nevus may be accompanied with other cutaneous and musculoskeletal anomalies that need to be carefully proven.

  7. Blue Nevus with a Dermoscopic Appearance of Peripheral Streaks with Branches

    Directory of Open Access Journals (Sweden)

    Sachiko Sakamoto

    2014-02-01

    Full Text Available Blue nevi are dermal dendritic melanocytic proliferations presenting as papules, nodules or plaques of blue, blue-gray or blue-brown color. Dermoscopic appearance commonly shows global patterns as homogeneous mono/dichromatic pigmentation and multichromatic pigmentation. Here, we report the case of a blue nevus with the dermoscopic feature of peripheral streaks with branches. With histopathologic deep sections, we confirmed that dermal dendritic melanocytes were distributed in the direction of the streaks. We emphasize that streaks are a rare but important sign of blue nevi.

  8. White sponge nevus: Report of three cases in a single family

    Science.gov (United States)

    Sanjeeta, Ngairangbam; Nandini, DB; Premlata, Takhellambam; Banerjee, Sumita

    2016-01-01

    White sponge nevus (WSN) is an interesting hereditary oral mucosal disorder that commonly manifests as bilaterally symmetrical, thickened white, corrugated or velvety, diffuse plaques that predominantly affects the buccal mucosa. The lesions may develop at birth or later in childhood or adolescence. Because it is asymptomatic and benign, WSN requires no treatment. Recognition of this disorder is important due to its potential confusion with other lesions that may be found in the oral cavity. Emphasis should be given to the early and correct diagnosis of this disorder to avoid unnecessary treatment. This report presents three affected members of a single family. PMID:27601826

  9. Review of ocular manifestations of nevoid basal cell carcinoma syndrome: What an ophthalmologist needs to know

    Directory of Open Access Journals (Sweden)

    Judy J Chen

    2015-01-01

    Full Text Available Nevoid basal cell carcinoma syndrome (NBCCS is a rare, autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs, odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri. Myriad ophthalmologic findings are associated with NBCCS, including periocular BCCs, hypertelorism, strabismus, myelinated nerve fibers, and disorders of the retina and retinal pigment epithelium. We performed a literature search in PubMed for articles on the ophthalmologic manifestations of Gorlin syndrome, published between 1984 and 2014. Of 33 papers, 31 were included. Although Gorlin syndrome is due to mutations in a single gene, it displays variable phenotypic expressivity. Therefore, familiarity with this disorder across clinical specialties is necessary to avoid misdiagnosis. The ophthalmologist should be included in the multidisciplinary team for the management of Gorlin syndrome in order to prevent visual loss and improve the quality of life of these patients.

  10. Carpal tunnel syndrome caused by a giant cell tumour of the flexor tendon sheath.

    Science.gov (United States)

    Meek, Marcel F; Sheikh, Zahid A; Quinton, David N

    2014-02-01

    A 76-year-old woman developed right carpal tunnel syndrome after being conservatively treated for tenosynovitis of the flexor tendons with associated mild carpal tunnel syndrome. A magnetic resonance imaging scan showed a tumour in the carpal tunnel. Re-exploration showed that the median nerve was being compressed by a giant cell tumour of the flexor tendon sheaths. Appropriate imaging is advised in patients with additional findings (such as swelling) or in patients with secondary carpal tunnel syndrome and incomplete response to conservative treatment, to exclude a space-occupying lesion.

  11. Severe acute tumor lysis syndrome in patients with germ-cell tumors

    Directory of Open Access Journals (Sweden)

    Guilherme Alvarenga Feres

    2008-01-01

    Full Text Available Germ-cell tumors are a high-proliferative type of cancer that may evolve to significant bulky disease. Tumor lysis syndrome is rarely reported in this setting. The reports of three patients with germ-cell tumors who developed severe acute tumor lysis syndrome following the start of their anticancer therapy are presented. All patients developed renal dysfunction and multiorgan failure. Patients with extensive germ-cell tumors should be kept on close clinical and laboratory monitoring. Physicians should be aware of this uncommon but severe complication and consider early admission to the intensive care unit for the institution of measures to prevent acute renal failure.

  12. Progeria of stem cells: stem cell exhaustion in Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Halaschek-Wiener, Julius; Brooks-Wilson, Angela

    2007-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare, fatal genetic disorder that is characterized by segmental accelerated aging. The major causal mutation associated with HGPS triggers abnormal messenger RNA splicing of the lamin A gene leading to changes in the nuclear architecture. To date, two models have been proposed to explain how mutations in the lamin A gene could lead to HGPS, structural fragility and altered gene expression. We favor a compatible model that links HGPS to stem cell-driven tissue regeneration. In this model, nuclear fragility of lamin A-deficient cells increases apoptotic cell death to levels that exhaust tissues' ability for stem cell-driven regeneration. Tissue-specific differences in cell death or regenerative potential, or both, result in the tissue-specific segmental aging pattern seen in HGPS. We propose that the pattern of aging-related conditions present or absent in HGPS can provide insight into the genetic and environmental factors that contribute to normal aging.

  13. Role of Q-switched ND:YAG laser in nevus of Ota: A study of 25 cases

    Directory of Open Access Journals (Sweden)

    Shivangi Sharma

    2011-01-01

    Full Text Available Background: Nevus of Ota is common condition in Indian patients. The condition is more common in females, with a male-female ratio of 1:4.8. Aim : To evaluate long-term efficacy safety and stability of Q-switched ND:YAG laser in treatment of Nevus of Ota. Design: 6 month follow-up of patients of Nevus of Ota, treated with Q-switched ND:YAG laser Materials and Methods : Twenty-five patients of Nevus of Ota were treated with Q-switched ND:YAG laser for a period of 1 year and 9 months; patient had fitzpatricks skin type 4 and 5; detailed history, clinical examination, ophthalmoscopy, and otoscopy was done in all cases; clinical photographs were taken before and after the completion of treatments. Six-month follow-up was done after the last session. Response to treatment was graded based on physician′s global assessment. Result : More than 70% improvement was seen in 15 patients (60%. Eight patients (32% had moderate and two patients (8% showed mild improvement.

  14. Multidirectional Vector Excision Leads to Better Outcomes than Traditional Elliptical Excision of Facial Congenital Melanocytic Nevus

    Directory of Open Access Journals (Sweden)

    Seung Il Oh

    2013-09-01

    Full Text Available Background The elliptical excision is the standard method of removing benign skin lesions,such as congenital melanocytic nevi. This technique allows for primary closure, with little to nodog-ear deformity, but may sacrifice normal tissue adjacent to the lesion, resulting in scarswhich are unnecessarily long. This study was designed to compare the predicted results ofelliptical excision with those resulting from our excision technique.Methods Eighty-two patients with congenital melanocytic nevus on the face were prospectivelystudied. Each lesion was examined and an optimal ellipse was designed and marked onthe skin. After an incision on one side of the nevus margin, subcutaneous undermining wasperformed in the appropriate direction. The skin flap was pulled up and approximated alongseveral vectors to minimize the occurrence of dog-ear deformity.Results Overall, the final wound length was 21.1% shorter than that achieved by ellipticalexcision. Only 8.5% of the patients required dog-ear repair. There was no significant distortionof critical facial structures. All of the scars were deemed aesthetically acceptable based ontheir Patient and Observer Scar Assessment Scale scores.Conclusions When compared to elliptical excision, our technique appears to minimize dogeardeformity and decrease the final wound length. This technique should be considered analternative method for excision of facial nevi.

  15. Treatment of 522 patients with Nevus of Ota with Q-switc hed Alexandrite laser

    Institute of Scientific and Technical Information of China (English)

    卢忠; 方丽华; 焦圣; 黄雯; 陈军庞; 王侠生

    2003-01-01

    Objective To evaluate the clinical response of Nevus of Ota to Q-switched Alexandrite laser, and analyze factors that influence the treatment outcome.Methods A total of 522 patients treated with Q-switched Alexandrite laser were included in the study. Single and multiple variate analyses of various factors were per formed. Results Satisfactory result was observed in all patients, none of whom developed scarring. Clinical response was improved with additional treatment sessions. The clin ical response of the 20-27-week treatment interval group was significantly better t han that of the 12-19-week interval group, but showed no significant difference as compared with both the 28-35 and ≥36-week interval group. Zygomatic, bucc al and frontal areas showed better response than ocular and temporal areas. Tre atment session, interval, and fluence were significant factors identified by mul tivariate analysis. Conclusions Q-switched Alexandrite laser is an ideal method for treating Nevus of Ota without injury. The number of treatment sessions is more important than interval or fluence.

  16. Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients.

    Science.gov (United States)

    Ruggieri, Martino; Milone, Pietro; Pavone, Piero; Falsaperla, Raffaele; Polizzi, Agata; Caltabiano, Rosario; Fichera, Marco; Gabriele, Anna Lia; Distefano, Angela; De Pasquale, Rocco; Salpietro, Vincenzo; Micali, Giuseppe; Pavone, Lorenzo

    2012-11-01

    The term twin spotting refers to phenotypes characterized by the spatial and temporal co-occurrence of two (or more) different nevi arranged in variable cutaneous patterns, and can be associated with extra-cutaneous anomalies. Several examples of twin spotting have been described in humans including nevus vascularis mixtus, cutis tricolor, lesions of overgrowth, and deficient growth in Proteus and Elattoproteus syndromes, epidermolytic hyperkeratosis of Brocq, and the so-called phacomatoses pigmentovascularis and pigmentokeratotica. We report on a 28-year-old man and a 15-year-old girl, who presented with a previously unrecognized association of paired cutaneous vascular nevi of the telangiectaticus and anemicus types (naevus vascularis mixtus) distributed in a mosaic pattern on the face (in both patients) and over the entire body (in the man) and a complex brain malformation (in both patients) consisting of cerebral hemiatrophy, hypoplasia of the cerebral vessels and homolateral hypertrophy of the skull and sinuses (known as Dyke-Davidoff-Masson malformation). Both patients had facial asymmetry and the young man had facial dysmorphism, seizures with EEG anomalies, hemiplegia, insulin-dependent diabetes mellitus (IDDM), autoimmune thyroiditis, a large hepatic cavernous vascular malformation, and left Legg-Calvé-Perthes disease (LCPD) [LCPD-like presentation]. Array-CGH analysis and mutation analysis of the RASA1 gene were normal in both patients.

  17. Paroxysmal vascular events in Sturge– Weber syndrome: Role of aspirin

    Directory of Open Access Journals (Sweden)

    Jyoti Sanghvi

    2014-01-01

    Full Text Available Sturge-Weber syndrome (SWS is a rare, sporadically occurring neurocutaneous disorder with a frequency of approximately 1 per 50,000. The hallmark is an intracranial leptomeningeal vascular angioma in association with a port wine nevus, usually involving ophthalmic or maxillary distribution of trigeminal nerve. Other clinical findings associated with SWS are seizures, glaucoma, hemiparesis and mental retardation. The radiological hallmark is "Tram-line" or "Gyri-form" calcification. 25 to 56% of patients experience recurrent episodes of paroxysmal focal neurological deficits in form of transient hemiparesis, which may be due to vascular ischemia or postictal in origin. EEG helps to differentiate the exact etiology, as it is normal in former. Aspirin prophylaxis in those, due to ischemia decreases their recurrences and improves overall neurological prognosis. We report a 25-month-old child of SWS with recurrent episodes of transient hemiparesis and atypical midline location of facial vascular nevus.

  18. Melanoma cutáneo asociado a nevo previo Cutaneous melanoma associated with previous nevus

    Directory of Open Access Journals (Sweden)

    María P. Gutiérrez

    2009-10-01

    Full Text Available El melanoma maligno es una neoplasia originada en los melanocitos de la piel y otras localizaciones. No existe información en nuestro país acerca de su incidencia y prevalecencia, sí se sabe cuáles son los factores de riesgo más importantes. El melanoma puede originarse de novo o a partir de lesiones melanocíticas previas. La noción de que un nevo melanocítico pueda servir como lesión precursora es sustentada por evidencias clínicas e histológicas. Realizamos en el Hospital Privado de Córdoba un estudio observacional, retrospectivo y analítico. El objetivo de este trabajo fue conocer cuál es la frecuencia de asociación de melanomas malignos que se desarrollan sobre nevos previos. Fueron analizados un total de 134 melanomas. En 32 pacientes (24%, los melanomas estuvieron histológicamente asociados con nevos, con espesores de Breslow mayores de 1 mm el porcentaje de asociación fue de 16.3%, y con Breslow menores de 1 mm, 38.1%. Al evaluar los melanomas en relación a la clasificación de Breslow y Clark, se objetivó que el grupo de melanomas asociados a nevos presentó un espesor de Breslow y niveles de Clark bajos y en el análisis estadístico fueron predictores significativos en la probabilidad de hallar esta asociación (p The malignant melanoma is a neoplasia originated from the melanocytes located in the skin and other locations. Even though there is not information regarding its incidence and prevalence in our country, its most important risk factors are known. The melanoma can originate de novo or from previous melanocytic lesions. The concept that a melanocytic nevus can serve as a precursor lesion is supported by clinical and histological evidence. An observational, retrospective and analytical study was carried out in the Hospital Privado de Córdoba. The objective was to determine which is the frequency of association of malignant melanomas that develop on previous nevus. A total of 134 melanomas were analyzed. In 32

  19. Platelets and white blood cells in acute coronary syndromes

    NARCIS (Netherlands)

    Smit, Jaap Jan Johannes

    2008-01-01

    In this thesis, we have studied the role of leukocytes and platelets as methods to measure platelets aggregation, in the clinical management of presenting with acute coronary syndromes. We have tried to incidence and to identify predictors of adverse cardiac events with function tests or inflammator

  20. Basal cell naevus syndrome - radiographic findings in the skull

    Energy Technology Data Exchange (ETDEWEB)

    Stoll, P.; Dueker, J.; Weingart, D.

    1986-09-01

    Besides uni- and multiocular jaw cysts the Gorlin Goltz syndrome shows other characteristic radiographic findings which help to ensure diagnosis. These are particularly calcification of the falx cerebri and a so called ''bridging'' between processus clinoideus anterior and posterior of the sella turcica. The importance of early diagnosis is stressed.

  1. A wild-type DNA ligase I gene is expressed in Bloom's syndrome cells.

    OpenAIRE

    Petrini, J H; Huwiler, K G; Weaver, D T

    1991-01-01

    Alteration of DNA ligase I activity is a consistent biochemical feature of Bloom's syndrome (BS) cells. DNA ligase I activity in BS cells either is reduced and abnormally thermolabile or is present in an anomalously dimeric form. To assess the role of DNA ligase function in the etiology of BS, we have cloned the DNA ligase I cDNA from normal human cells by a PCR strategy using degenerate oligonucleotide primers based on conserved regions of the Saccharomyces cerevisiae and Schizosaccharomyces...

  2. Small noncleaved cell lymphoma in an adolescent with the XYY syndrome.

    Science.gov (United States)

    Sandlund, J T; Raimondi, S C

    1997-04-01

    A 19-year-old male was diagnosed with stage III abdominal small noncleaved cell (SNCC) non-Hodgkin lymphoma (NHL). Cytogenetic evaluation of the tumor revealed a complex karyotype which included the t(8;14)(q24;q32), classically associated with this lymphoma histotype, and an extra Y chromosome. After remission was obtained, cytogenetic analysis of bone marrow cells and PHA-stimulated peripheral blood lymphocytes disclosed a normal karyotype except for the persistence of an extra Y chromosome, diagnostic of the XYY syndrome. This is the first reported case of SNCC NHL in an adolescent with the XYY syndrome.

  3. Human Immunodeficiency Syndromes Affecting Human Natural Killer Cell Cytolytic Activity

    OpenAIRE

    Ham, Hyoungjun; Billadeau, Daniel D.

    2014-01-01

    Natural killer (NK) cells are lymphocytes of the innate immune system that secrete cytokines upon activation and mediate the killing of tumor cells and virus-infected cells, especially those that escape the adaptive T cell response caused by the down regulation of MHC-I. The induction of cytotoxicity requires that NK cells contact target cells through adhesion receptors, and initiate activation signaling leading to increased adhesion and accumulation of F-actin at the NK cell cytotoxic synaps...

  4. Sturge-Weber syndrome with no leptomeningeal enhancement on MRI

    Energy Technology Data Exchange (ETDEWEB)

    Fischbein, N.J.; Barkovich, A.J. [Department of Radiology, San Francisco, CA (United States); Wu, Y.; Berg, B.O. [Department Pediatric Neurology, University of California, San Francisco, California (United States)

    1998-03-01

    Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome characterized by a facial nevus flammeus associated with seizures, developmental delay, and, often, with hemiparesis and hemianopia. On MRI, the most characteristic finding has been reported to be leptomeningeal enhancement, believed to represent leakage of contrast medium through the anomalous pial vessels that characterize the disease. We present a case of SWS with no evidence of leptomeningeal enhancement. This case illustrates that leptomeningeal enhancement need not be present in SWS, and the absence of this characteristic finding does not preclude the diagnosis. (orig.) With 2 figs.

  5. Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wicking, C.; Berkman, J.; Wainwright, B. [Univ. of Queensland, Brisbane (Australia)] [and others

    1994-08-01

    Nevoid basal cell carcinoma syndrome (NBCCS, or Gorlin syndrome) is a cancer predisposition syndrome characterized by multiple basal cell carcinomas and diverse developmental defects. The gene responsible for NBCCS, which is most likely to be a tumor suppressor gene, has previously been mapped to 9q22.3-q31 in a 12-cM interval between the microsatellite marker loci D9S12.1 and D9S109. Combined multipoint and haplotype analyses of additional polymorphisms in this region in our collection of Australasian pedigrees have further refined the localization of the gene to between the markers D9S196 and D9S180, an interval reported to be approximately 2 cM. 27 refs., 4 figs., 1 tab.

  6. Reversal of experimental Laron Syndrome by xenotransplantation of microencapsulated porcine Sertoli cells.

    Science.gov (United States)

    Luca, Giovanni; Calvitti, Mario; Mancuso, Francesca; Falabella, Giulia; Arato, Iva; Bellucci, Catia; List, Edward O; Bellezza, Enrico; Angeli, Giovanni; Lilli, Cinzia; Bodo, Maria; Becchetti, Ennio; Kopchick, John J; Cameron, Don F; Baroni, Tiziano; Calafiore, Riccardo

    2013-01-10

    Recombinant human IGF-1 currently represents the only available treatment option for the Laron Syndrome, a rare human disorder caused by defects in the gene encoding growth hormone receptor, resulting in irreversibly retarded growth. Unfortunately, this treatment therapy, poorly impacts longitudinal growth (13% in females and 19% in males), while burdening the patients with severe side effects, including hypoglycemia, in association with the unfair chore of taking multiple daily injections that cause local intense pain. In this study, we have demonstrated that a single intraperitoneal graft of microencapsulated pig Sertoli cells, producing pig insulin-like growth factor-1, successfully promoted significant proportional growth in the Laron mouse, a unique animal model of the human Laron Syndrome. These findings indicate a novel, simply, safe and successful method for the cell therapy-based cure of the Laron Syndrome, potentially applicable to humans.

  7. Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes.

    Science.gov (United States)

    Li, Wen; Wang, Xianming; Fan, Wenxia; Zhao, Ping; Chan, Yau-Chi; Chen, Shen; Zhang, Shiqiang; Guo, Xiangpeng; Zhang, Ya; Li, Yanhua; Cai, Jinglei; Qin, Dajiang; Li, Xingyan; Yang, Jiayin; Peng, Tianran; Zychlinski, Daniela; Hoffmann, Dirk; Zhang, Ruosi; Deng, Kang; Ng, Kwong-Man; Menten, Bjorn; Zhong, Mei; Wu, Jiayan; Li, Zhiyuan; Chen, Yonglong; Schambach, Axel; Tse, Hung-Fat; Pei, Duanqing; Esteban, Miguel A

    2012-01-01

    Many human diseases share a developmental origin that manifests during childhood or maturity. Aneuploid syndromes are caused by supernumerary or reduced number of chromosomes and represent an extreme example of developmental disease, as they have devastating consequences before and after birth. Investigating how alterations in gene dosage drive these conditions is relevant because it might help treat some clinical aspects. It may also provide explanations as to how quantitative differences in gene expression determine phenotypic diversity and disease susceptibility among natural populations. Here, we aimed to produce induced pluripotent stem cell (iPSC) lines that can be used to improve our understanding of aneuploid syndromes. We have generated iPSCs from monosomy X [Turner syndrome (TS)], trisomy 8 (Warkany syndrome 2), trisomy 13 (Patau syndrome) and partial trisomy 11;22 (Emanuel syndrome), using either skin fibroblasts from affected individuals or amniocytes from antenatal diagnostic tests. These cell lines stably maintain the karyotype of the donors and behave like embryonic stem cells in all tested assays. TS iPSCs were used for further studies including global gene expression analysis and tissue-specific directed differentiation. Multiple clones displayed lower levels of the pseudoautosomal genes ASMTL and PPP2R3B than the controls. Moreover, they could be transformed into neural-like, hepatocyte-like and heart-like cells, but displayed insufficient up-regulation of the pseudoautosomal placental gene CSF2RA during embryoid body formation. These data support that abnormal organogenesis and early lethality in TS are not caused by a tissue-specific differentiation blockade, but rather involves other abnormalities including impaired placentation.

  8. Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.

    Science.gov (United States)

    Kaur, Maninder; Izumi, Kosuke; Wilkens, Alisha B; Chatfield, Kathryn C; Spinner, Nancy B; Conlin, Laura K; Zhang, Zhe; Krantz, Ian D

    2014-01-01

    Pallister Killian syndrome (OMIM: # 601803) is a rare multisystem disorder typically caused by tissue limited mosaic tetrasomy of chromosome 12p (isochromosome 12p). The clinical manifestations of Pallister Killian syndrome are variable with the most common findings including craniofacial dysmorphia, hypotonia, cognitive impairment, hearing loss, skin pigmentary differences and epilepsy. Isochromosome 12p is identified primarily in skin fibroblast cultures and in chorionic villus and amniotic fluid cell samples and may be identified in blood lymphocytes during the neonatal and early childhood period. We performed genomic expression profiling correlated with interphase fluorescent in situ hybridization and single nucleotide polymorphism array quantification of degree of mosaicism in fibroblasts from 17 Caucasian probands with Pallister Killian syndrome and 9 healthy age, gender and ethnicity matched controls. We identified a characteristic profile of 354 (180 up- and 174 down-regulated) differentially expressed genes in Pallister Killian syndrome probands and supportive evidence for a Pallister Killian syndrome critical region on 12p13.31. The differentially expressed genes were enriched for developmentally important genes such as homeobox genes. Among the differentially expressed genes, we identified several genes whose misexpression may be associated with the clinical phenotype of Pallister Killian syndrome such as downregulation of ZFPM2, GATA6 and SOX9, and overexpression of IGFBP2.

  9. Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome.

    Directory of Open Access Journals (Sweden)

    Maninder Kaur

    Full Text Available Pallister Killian syndrome (OMIM: # 601803 is a rare multisystem disorder typically caused by tissue limited mosaic tetrasomy of chromosome 12p (isochromosome 12p. The clinical manifestations of Pallister Killian syndrome are variable with the most common findings including craniofacial dysmorphia, hypotonia, cognitive impairment, hearing loss, skin pigmentary differences and epilepsy. Isochromosome 12p is identified primarily in skin fibroblast cultures and in chorionic villus and amniotic fluid cell samples and may be identified in blood lymphocytes during the neonatal and early childhood period. We performed genomic expression profiling correlated with interphase fluorescent in situ hybridization and single nucleotide polymorphism array quantification of degree of mosaicism in fibroblasts from 17 Caucasian probands with Pallister Killian syndrome and 9 healthy age, gender and ethnicity matched controls. We identified a characteristic profile of 354 (180 up- and 174 down-regulated differentially expressed genes in Pallister Killian syndrome probands and supportive evidence for a Pallister Killian syndrome critical region on 12p13.31. The differentially expressed genes were enriched for developmentally important genes such as homeobox genes. Among the differentially expressed genes, we identified several genes whose misexpression may be associated with the clinical phenotype of Pallister Killian syndrome such as downregulation of ZFPM2, GATA6 and SOX9, and overexpression of IGFBP2.

  10. Low T3 syndrome is a strong prognostic predictor in diffuse large B cell lymphoma.

    Science.gov (United States)

    Gao, Rui; Liang, Jin-Hua; Wang, Li; Zhu, Hua-Yuan; Wu, Wei; Wu, Jia-Zhu; Xia, Yi; Cao, Lei; Fan, Lei; Yang, Tao; Li, Jian-Yong; Xu, Wei

    2017-02-01

    The aim of this study was to evaluate the prognostic effect of low triiodothyronine (T3) syndrome on patients with diffuse large B cell lymphoma (DLBCL). A hundred and eighty-eight patients with detailed thyroid hormone levels at diagnosis of DLBCL were enrolled. Low T3 syndrome was defined as a low serum free T3 (FT3) level with low or normal serum free tetraiodothyronine (FT4) and thyroid stimulating hormone levels. Multivariate Cox regression analysis was used to screen prognostic factors associated with progression-free survival (PFS) and overall survival (OS). Receiver-operator characteristic curves and the corresponding areas under the curve were calculated to assess the predictive accuracy of International Prognostic Index (IPI) and low T3 syndrome. Twenty-four patients were diagnosed with low T3 syndrome, which was associated with worse PFS and OS in the rituximab era. It was an independent prognostic factor for PFS and OS, especially for those with IPI 0-2, extranodal sites ≤1 and stage III-IV. Synchronously low FT3 and FT4 had poorer survival outcome compared to only low FT3 and adding criterion of low T3 syndrome improved the prognostic capacity of IPI for predicting PFS and OS in DLBCL. Low T3 syndrome was found to be a strong prognostic predictor in DLBCL.

  11. Circulating endothelial cells in coronary artery disease and acute coronary syndrome

    NARCIS (Netherlands)

    Schmidt, David E; Manca, Marco; Höfer, Imo E

    2015-01-01

    Circulating endothelial cells (CECs) have been put forward as a promising biomarker for diagnosis and prognosis of coronary artery disease and acute coronary syndromes. This review entails current insights into the physiology and pathobiology of CECs, including their relationship with circulating en

  12. Splenic marginal zone lymphoma with Evans' syndrome, autoimmunity, and peripheral gamma/delta T cells

    OpenAIRE

    2008-01-01

    Splenic marginal zone lymphoma with Evans? syndrome, autoimmunity, and peripheral gamma/delta T cells (Garcia-Mu?oz, Ricardo) Hematology Service, Clinica Universitaria, University of Navarra - Pamplona - SPAIN (Garcia-Mu?oz, Ricardo) Hematology Service, Clinica Universitaria, University of Navarra - Pamplona - SPAIN (Rodriguez-Otero, Paula) Hematology Service, Clinica Universitaria, University of Navarra - Pamplona - SPAIN (Pegenaute, Carlota) Department of...

  13. Red blood cell fatty acid composition and the metabolic syndrome: NHLBI GOLDN study

    Science.gov (United States)

    Different fatty acids may vary in their effect on the metabolic syndrome (MetS). We tested whether fatty acid classes measured in red blood cells (RBC) are associated with the MetS or its components. Included were men (n=497, 49+/-16 y) and women (n=539, 48+/-16 y) from 187 families in the Genetics ...

  14. Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes

    NARCIS (Netherlands)

    de Latour, R. Peffault; Peters, C.; Gibsons, B.; Strahm, B.; Lankester, A.; de Heredia, C. D.; Longoni, D.; Fioredda, F.; Locatelli, F.; Yaniv, I.; Wachowiak, J.; Donadieu, J.; Lawitschka, A.; Bierings, M.; Wlodarski, M.; Corbacioglu, S.; Bonanomi, S.; Samarasinghe, S.; Leblanc, T.; Dufour, C.; Dalle, J-H

    2015-01-01

    Allogeneic hematopoietic stem cell transplantation (HSCT) offers the potential to cure patients with an inherited bone marrow failure syndrome (IBMFS). However, the procedure involves the risk of treatment-related mortality and may be associated with significant early and late morbidity. For these r

  15. Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report.

    Science.gov (United States)

    Türkoğlu, Kivanç; Orhan, Kaan; Demir, Pinar; Karabulut, Bariş; Can-Karabulut, Deniz C

    2010-10-01

    This paper describes a clinical case of both giant cell granuloma and Kartagener syndrome in a 15-year-old male patient, with emphasis on the radiographic aspects of this extremely unusual pathology. To our knowledge, the presence of these 2 rare clinical conditions in the same patient has not been previously reported.

  16. NGF, BDNF, leptin, and mast cells in human coronary atherosclerosis and metabolic syndrome.

    Science.gov (United States)

    Chaldakov, G N; Fiore, M; Stankulov, I S; Hristova, M; Antonelli, A; Manni, L; Ghenev, P I; Angelucci, F; Aloe, L

    2001-10-01

    While multiple growth factor, cytokines, and immune cells are identified in atherosclerotic lesions, as well as an essential nonneuronal function of neurotrophins implicated in cardiovascular tissue development and in lipid and glucose metabolism, the role of the neurotrophins NGF and BDNF and also the adipokine leptin in human coronary atherosclerosis and related disorders, such as metabolic syndrome, remains unclear. Here we report that (i) both the amount and the immunoreactivity of NGF was reduced and the expression of p75NGF receptor and the number of mast cell increased in human atherosclerotic coronary arteries (n = 12) compared with control specimens (n = 9) obtained from autopsy cases, and (ii) NGF and BDNF plasma levels were reduced in patients with metabolic syndrome (n = 23) compared with control subjects (n = 10). Also, in metabolic syndrome patients, a positive correlation between the plasma leptin levels and the number of adipose tissue mast cells was found, suggesting that leptin may be a novel adipoimmune mediator. Altogether, the results provide the first correlative evidence for the potential involvement of NGF, BDNF, leptin, and mast cells in human coronary atherosclerosis and metabolic syndrome, implying neuroimmune and adipoimmune pathways in the pathobiology of these cardiovascular disorders.

  17. Embryonic stem cells as an ectodermal cellular model of human p63-related dysplasia syndromes.

    NARCIS (Netherlands)

    Rostagno, P.; Wolchinsky, Z.; Vigano, A.M.; Shivtiel, S.; Zhou, H.; Bokhoven, J.H.L.M. van; Ferone, G.; Missero, C.; Mantovani, R.; Aberdam, D.; Virolle, T.

    2010-01-01

    Heterozygous mutations in the TP63 transcription factor underlie the molecular basis of several similar autosomal dominant ectodermal dysplasia (ED) syndromes. Here we provide a novel cellular model derived from embryonic stem (ES) cells that recapitulates in vitro the main steps of embryonic skin d

  18. Autologous stem cell transplantation for therapy-related acute myeloid leukemia and myelodysplastic syndrome.

    NARCIS (Netherlands)

    Kroger, N.; Brand, R.; Biezen, A. van; Cahn, J.; Slavin, S.; Blaise, D.; Sierra, J.; Zander, A.; Niederwieser, D.; Witte, T.J.M. de

    2006-01-01

    We report the results of 65 patients with treatment-related myelodysplastic syndrome (MDS)/acute myelogenous leukemia (AML) who were transplanted from an autograft and reported to the EBMT. The median age was 39 years (range, 3-69), and stem cell source was bone marrow (n = 31), or peripheral blood

  19. Evaluation of Red Blood Cell Distribution Width in Patients with Cardiac Syndrome X

    Directory of Open Access Journals (Sweden)

    Ping Qing

    2013-01-01

    Full Text Available BACKGROUND: Cardiac syndrome X (CSX is a condition characterized by chest pain with normal coronary arteries. However, its pathogenesis has not fully been understood yet. Red blood cell distribution width (RDW has recently been suggested as a marker of acute and chronic cardiovascular diseases, while no data is available in patients with CSX.

  20. Transient overexpression of Werner protein rescues starvation induced autophagy in Werner syndrome cells.

    Science.gov (United States)

    Maity, Jyotirindra; Bohr, Vilhelm A; Laskar, Aparna; Karmakar, Parimal

    2014-12-01

    Reduced autophagy may be associated with normal and pathological aging. Here we report a link between autophagy and Werner protein (WRNp), mutated in Werner syndrome, the human premature aging Werner syndrome (WS). WRN mutant fibroblast AG11395 and AG05229 respond weakly to starvation induced autophagy compared to normal cells. While the fusion of phagosomes with lysosome is normal, WS cells contain fewer autophagy vacuoles. Cellular starvation autophagy in WS cells is restored after transfection with full length WRN. Further, siRNA mediated silencing of WRN in the normal fibroblast cell line WI-38 results in decreased autophagy and altered expression of autophagy related proteins. Thus, our observations suggest that WRN may have a role in controlling autophagy and hereby cellular maintenance.

  1. Susceptibility of testicular cell cultures of crab, Scylla serrata (Forskal) to white spot syndrome virus.

    Science.gov (United States)

    Shashikumar, Anumol; Desai, P V

    2013-03-01

    Testicular cell culture of crab, Scylla serrata (Forskal) was used to study the effects of White spot syndrome virus (WSSV). We are showing the susceptibility of cell culture of crabs to WSSV. The proliferating cell culture of testes were maintained for more than 4 months in a medium prepared from L15 and crab saline supplemented with epidermal growth factor. The cell cultures inoculated with different concentrations of virus showed distinct cytopathic effects such as change in cell appearance, shrinkage and cell lysis. WSSV infection of cultured cells was confirmed by Nested PCR technique. The incorporation of viral DNA in cultured cells was shown by RAPD profile generated using 10-mer primers. The controls that were not exposed to WSSV did not show cytopathic effects. This work shows the usefulness of proliferating testicular cell culture for studying WSSV infection using molecular tools. Thus, this report gains significance as it opens new vistas for diagnostics and drugs for WSSV.

  2. Melanoma associated with congenital intermediate common blue nevus of the scalp - Case report*

    Science.gov (United States)

    Ribeiro, Camila Sampaio; Serpa, Sergio S.; Sousa, Maria Auxiliadora Jeunon; Jeunon, Thiago

    2016-01-01

    Melanomas can arise either de novo (70%) or from pre-existing melanocytic lesions (30%). Of the latter, most cases arise at the dermoepidermal junction from small congenital or acquired non-blue nevi while only a few arise from blue nevi, notably the cellular subtype and less commonly the common (dendritic) type. Melanomas that arise from blue nevi usually occur on the scalp with greater frequency, as in the case described. Although previous studies have discussed melanoma arising from giant congenital blue nevi, few have discussed those arising from intermediate blue nevi. We present a case of a 52-yearold man with melanoma on the scalp evolving from an intermediate congenital common blue nevus. PMID:27579751

  3. Linear and whorled nevoid hypermelanosis complicated with inflammatory linear verrucous epidermal nevus and ichthyosis vulgaris.

    Science.gov (United States)

    Lu, Yan; Zhu, Wen-Yuan

    2007-11-01

    We report a 17-year-old girl who presented with linear and whorled melanosis following Blaschko lines mainly on her trunk. Ichthyosiform lesions and linear scaling erythemas were observed respectively on her lower limbs and the dorsa of her hands, left knee, ankle and foot. No abnormality was found in systemic examination and blood tests. A biopsy specimen of pigmentation of her back showed there was increased pigmentation within the basal keratinocytes, with focal incontinentia pigmenti. Notable lymphangiectasis could also be seen in the mid part of dermis, which had never previously been described. The biopsy of scaling erythemas of her hand showed dominant hyperkeratosis with focal parakeratosis, acanthosis and papillomatous hyperplasia in the epidermis. The diagnosis of linear and whorled nevoid hypermelanosis (LWNH) complicated with inflammatory linear verrucous epidermal nevus and ichthyosis vulgaris was made in accordance with clinical and pathological manifestations. LWNH ought to be differentiated from incontinentia pigmenti and hypomelanosis of Ito.

  4. Giant congenital melanocytic nevus of the face. A clinical case report

    Directory of Open Access Journals (Sweden)

    Маргарита Сергеевна Цыплакова

    2015-06-01

    Full Text Available This article describes a rare case of congenital anomalies: giant melanocytic nevus of the face. Errors in the choice of treatment strategy of children with this disease and their complications can lead to poor aesthetic and functional results. When choosing a method of plastic eliminate defects formed after removal of nevi, it is necessary to take into account anatomical features of the maxillofacial region. The department developed the scheme of complex treatment of these patients. Surgical treatment in combination with massage and myogymnastics, regular medical observation, provides a good aesthetic results. Integrated approach in the treatment of children with giant nevi of the face allows for an early medico-social rehabilitation of children with this pathology.

  5. Regulatory T cells and immunodeficiency in mycosis fungoides and Sézary syndrome

    DEFF Research Database (Denmark)

    Krejsgaard, Thorbjørn Frej; Ødum, Niels; Geisler, Carsten;

    2012-01-01

    Cutaneous T-cell lymphoma (CTCL) is the term for diseases characterized by primary accumulation of malignant T cells in the skin. Patients with the two predominant clinical forms of CTCL called mycosis fungoides (MF) and Sézary syndrome (SS) characteristically develop severe immunodeficiency during...... in MF and SS and discuss the potential mechanisms driving the immunodeficiency.Leukemia advance online publication, 9 September 2011; doi:10.1038/leu.2011.237....

  6. Urticaria after methyl aminolevulinate photodynamic therapy in a patient with nevoid basal cell carcinoma syndrome.

    Science.gov (United States)

    Wolfe, Christopher M; Green, W Harris; Hatfield, H Keith; Cognetta, Armand B

    2012-11-01

    Methyl aminolevulinate photodynamic therapy (MAL-PDT) is utilized in several countries for the treatment of basal cell carcinoma, but allergic sensitization has been reported by the manufacturer. To the best of our knowledge, we report the first case of urticaria following MAL-PDT in a patient with nevoid basal cell carcinoma syndrome. Prophylactic use of antihistamines may allow continued use of MAL-PDT in this setting.

  7. Risk factors for therapy-related myelodysplastic syndrome and acute myeloid leukemia treated with allogeneic stem cell transplantation.

    OpenAIRE

    2009-01-01

    International audience; BACKGROUND: After successful treatment of malignant diseases, therapy-related myelodysplastic syndrome and acute myeloid leukemia have emerged as significant problems. DESIGN AND METHODS: The aim of this study was to investigate outcome and risk factors in patients with therapy-related myelodysplastic syndrome or acute myeloid leukemia who underwent allogeneic stem cell transplantation. Between 1981 and 2006, 461 patients with therapy-related myelodysplastic syndrome o...

  8. Confocal and dermoscopic features of basal cell carcinoma in Gorlin-Goltz syndrome: A case report.

    Science.gov (United States)

    Casari, Alice; Argenziano, Giuseppe; Moscarella, Elvira; Lallas, Aimilios; Longo, Caterina

    2016-01-14

    Gorlin-Goltz (GS) syndrome is an autosomal dominant disease linked to a mutation in the PTCH gene. Major criteria include the onset of multiple basal cell carcinoma (BCC), keratocystic odontogenic tumours in the jaws and bifid ribs. Dermoscopy and reflectance confocal microscopy represent imaging tools that are able to increase the diagnostic accuracy of skin cancer in a totally noninvasive manner, without performing punch biopsies. Here we present a case of a young woman in whom the combined approach of dermoscopy and RCM led to the identification of multiple small inconspicuous lesions as BCC and thus to the diagnosis of GS syndrome.

  9. [Renal cell carcinoma in patient with situs inversus and Kartagener syndrome].

    Science.gov (United States)

    Jiménez Verdejo, A; Martínez Torres, J L; Palao Yago, F; Tinaut Ranera, J; Arrabal Martín, M; Miján Ortiz, J L; Zuluaga Gómez, A

    2000-02-01

    A case of a adenocarcinoma renal in a patient with situs inversus complete to which was associated bronchiectasis and chronic sinusitis (kartagener's syndrome) is reported. It is the third case described in the international literature of a renal cells carcinoma in a patient with situs inversus totalis and the first in patient the one which has the triada classic of the kartagener's syndrome plus sterility. The tumor was discovered in a way incidental upon accomplishing a TAC toracoabdominal and was solved through nefrectomia for lumbotomy approach.

  10. Two cases of uveitis masquerade syndrome caused by bilateral intraocular large B-cell lymphoma

    Directory of Open Access Journals (Sweden)

    Jovanović Svetlana

    2013-01-01

    Full Text Available Introduction. Sometimes it is not easy to clinically recognize subtle differences between intraocular lymphoma and noninfectious uveitis. The most common lymphoma subtype involving the eye is B-cell lymphoma. Case report. We presented two patients aged 59 and 58 years with infiltration of the subretinal space with a large B-cell non-Hodgkin intraocular lymphoma. The patients originally had clinically masked syndrome in the form of intermediate uveitis. As it was a corticosteroid-resistant uveitis, we focused on the possible diagnosis of neoplastic causes of this syndrome. During hospitalization, the neurological symptoms emerged and multiple subretinal changes accompanied by yellowish white patches of retinal pigment epithelium with signs of vitritis, which made us suspect the intraocular lymphoma. Endocranial magnetic resonance imaging established tumorous infiltration in the region of the left hemisphere of the cerebellum. The histopathological finding confirmed the diagnosis of large B-cell non-Hodgkin lymphoma of risk moderate degree, immunoblast - centroblast cytological type. The other patient had clinical chronic uveitis accompanied by yellowish shaped white echographic changes of the retina and localized changes in the level of the subretina. The diagnosis of lymphoma was made by brain biopsy. Conclusion. Uveitis masquerade syndrome should be considered in all patients over 40 years with idiopathic steroid-resistant uveitis. Treatment begun on time can affect the course and improve the prognosis of uveitis masquerade syndrome (UMS and systemic disease.

  11. Binding of white spot syndrome virus to Artemia sp. cell membranes.

    Science.gov (United States)

    Feng, Shuying; Li, Guangda; Feng, Wenpo; Huang, Jie

    2013-10-01

    Using differential velocity centrifugation, cell membranes of Artemia sp. were prepared, and their binding to white spot syndrome virus (WSSV) was analyzed in vitro. The results indicated that WSSV can specifically bind to Artemia cell membranes, and that WSSV receptor very likely existed in this membrane, which suggested that Artemia sp. may be a reservoir of WSSV. This study investigated the specific WSSV binding site by performing competitive inhibition experiments using shrimp gill cell membranes to bind WSSV to Artemia cell membranes. The results showed that shrimp gill cell membranes had a distinct inhibition effect on the specific binding of Artemia cell membranes to WSSV. Thus, potentially similar WSSV receptors or binding sites existed on Artemia sp. cell membranes and shrimp gill cell membranes. Taken together, these findings may provide experimental basis for the development of an effective approach to controlling WSSV, and theoretical basis for the study of WSSV receptors.

  12. Bone marrow stromal cell transplantation mitigates radiation-induced gastrointestinal syndrome in mice.

    Directory of Open Access Journals (Sweden)

    Subhrajit Saha

    Full Text Available BACKGROUND: Nuclear accidents and terrorism presents a serious threat for mass casualty. While bone-marrow transplantation might mitigate hematopoietic syndrome, currently there are no approved medical countermeasures to alleviate radiation-induced gastrointestinal syndrome (RIGS, resulting from direct cytocidal effects on intestinal stem cells (ISC and crypt stromal cells. We examined whether bone marrow-derived adherent stromal cell transplantation (BMSCT could restitute irradiated intestinal stem cells niche and mitigate radiation-induced gastrointestinal syndrome. METHODOLOGY/PRINCIPAL FINDINGS: Autologous bone marrow was cultured in mesenchymal basal medium and adherent cells were harvested for transplantation to C57Bl6 mice, 24 and 72 hours after lethal whole body irradiation (10.4 Gy or abdominal irradiation (16-20 Gy in a single fraction. Mesenchymal, endothelial and myeloid population were characterized by flow cytometry. Intestinal crypt regeneration and absorptive function was assessed by histopathology and xylose absorption assay, respectively. In contrast to 100% mortality in irradiated controls, BMSCT mitigated RIGS and rescued mice from radiation lethality after 18 Gy of abdominal irradiation or 10.4 Gy whole body irradiation with 100% survival (p<0.0007 and p<0.0009 respectively beyond 25 days. Transplantation of enriched myeloid and non-myeloid fractions failed to improve survival. BMASCT induced ISC regeneration, restitution of the ISC niche and xylose absorption. Serum levels of intestinal radioprotective factors, such as, R-Spondin1, KGF, PDGF and FGF2, and anti-inflammatory cytokines were elevated, while inflammatory cytokines were down regulated. CONCLUSION/SIGNIFICANCE: Mitigation of lethal intestinal injury, following high doses of irradiation, can be achieved by intravenous transplantation of marrow-derived stromal cells, including mesenchymal, endothelial and macrophage cell population. BMASCT increases blood levels of

  13. Beta-cell function is associated with metabolic syndrome in Mexican subjects

    Directory of Open Access Journals (Sweden)

    Blanca G Baez-Duarte

    2010-08-01

    Full Text Available Blanca G Baez-Duarte1,3, María Del Carmen Sánchez-Guillén3†, Ricardo Pérez-Fuentes2,3, Irma Zamora-Ginez1,3, Bertha Alicia Leon-Chavez1, Cristina Revilla-Monsalve4, Sergio Islas-Andrade41Posgrado en Ciencias Químicas, Benemérita Universidad Autónoma de Puebla, México; 2Facultad de Medicina, Benemérita Universidad Autónoma de Puebla, México; 3Centro de Investigación Biomédica de Oriente, Instituto Mexicano del Seguro Social, Atlixco, Puebla, México; 4Multidiciplinary Research Group on Diabetes (José Sánchez-Corona, Fernando Guerrero-Romero, Martha Rodriguez-Moran, Agustin Madero, Jorge Escobedo-de-la-Peña, Silvia Flores-Martinez, Esperanza, Martinez-Abundis, Manuel Gonzalez-Ortiz, Alberto Rascon-Pacheco, Margarita Torres-Tamayo, Instituto Mexicano del Seguro Social, México, Distrito Federal, México; †María Del Carmen Sánchez-Guillén passed away on 27 November 2009.Aims: The clinical diagnosis of metabolic syndrome does not find any parameters to evaluate the insulin sensitivity (IS or β-cell function. The evaluation of these parameters would detect early risk of developing metabolic syndrome. The aim of this study is to determine the relationship between β-cell function and presence of metabolic syndrome in Mexican subjects.Material and methods: This study is part of the Mexican Survey on the Prevention of Diabetes (MexDiab Study with headquarters in the city of Puebla, Mexico. The study comprised of 444 subjects of both genders, aged between 18 and 60 years and allocated into two study groups: (1 control group of individuals at metabolic balance without metabolic syndrome and (2 group composed of subjects with metabolic syndrome and diagnosed according to the criteria of the Third Report of the National Cholesterol Education Program Expert Panel on Defection, Evaluation, and Treatment of High Blood Cholesterol in Adults. Anthropometric, biochemical, and clinical assessments were carried out.Results: Average age of the

  14. Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.

    Science.gov (United States)

    Dalle, Jean-Hugues; Peffault de Latour, Régis

    2016-04-01

    Inherited bone marrow failure (IBMF) syndromes are a heterogeneous group of rare hematological disorders characterized by the impairment of hematopoiesis, which harbor specific clinical presentations and pathogenic mechanisms. Some of these syndromes may progress through clonal evolution, myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Most prominent are failures of DNA repair such as Fanconi Anemia and much rarer failure of ribosomal apparatus, e.g., Diamond Blackfan Anemia or of telomere elongation such as dyskeratosis congenita. In these congenital disorders, hematopoietic stem cell transplantation (HSCT) is often a consideration. However, HSCT will not correct the underlying disease and possible co-existing extra-medullary (multi)-organ defects, but will improve BMF. Indications as well as transplantation characteristics are most of the time controversial in this setting because of the rarity of reported cases. The present paper proposes a short overview of current practices.

  15. Spontaneous Tumor Lysis Syndrome in the Setting of B-Cell Lymphoma

    Directory of Open Access Journals (Sweden)

    Mateusz Opyrchal

    2010-01-01

    Full Text Available Tumor lysis syndrome (TLS presenting in absence of chemotherapy is a rare occurrence. One of the true oncological emergencies, it can lead to significant morbidity and mortality. TLS is a phenomena usually associated with tumor cell death after treatment. The etiology of the spontaneous TLS is not well understood, which complicates the diagnosis. TLS is well known to oncologists but physicians outside of this specialty have little or no experience with this condition. Early recognition and treatment are the keys to limiting the sequela of the condition. Spontaneous tumor lysis syndrome is rare but presents added risks to the patient because of the potential for delayed diagnosis and no benefit of pretreatment. Diagnosis may be further delayed because this may be the first symptom of underlying malignancy. Therefore, it is imperative that all clinicians are familiar with the syndrome to assure timely recognition.

  16. microRNA expression profile of peripheral blood mononuclear cells of Klinefelter syndrome.

    Science.gov (United States)

    Sui, Weiguo; Ou, Minglin; Chen, Jiejing; Li, Huan; Lin, Hua; Zhang, Yue; Li, Wuxian; Xue, Wen; Tang, Donge; Gong, Weiwei; Zhang, Ruohan; Li, Fengyan; Dai, Yong

    2012-11-01

    microRNAs are a type of small non-coding RNAs which play important roles in post-transcriptional gene regulation, and the characterization of microRNA expression profiling in peripheral blood mononuclear cells (PBMCs) from patients with Klinefelter syndrome requires further investigation. In this study, PBMCs were obtained from patients with Klinefelter syndrome and normal controls. After preparation of small RNA libraries, the two groups of samples were sequenced simultaneously using next generation high-throughput sequencing technology, and novel and known microRNAs were analyzed. A total of 9,772,392 and 9,717,633 small RNA reads were obtained; 8,014,466 (82.01%) and 8,104,423 (83.40%) genome-matched reads, 64 and 49 novel microRNAs were identified in the library of Klinefelter syndrome and the library of healthy controls, respectively. There were 71 known microRNAs with differential expression levels between the two libraries. Clustering of over-represented gene ontology (GO) classes in predicted targets of novel microRNAs in the Klinefelter syndrome library showed that the most significant GO terms were genes involved in the endomembrane system, nucleotide binding and kinase activity. Our data revealed that there are a large number of microRNAs deregulated in PBMCs taken from patients with Klinefelter syndrome, of which certain novel and known microRNAs may be involved in the pathological process of Klinefelter syndrome. Further studies are necessary to determine the roles of microRNAs in the pathological process of Klinefelter syndrome in the future.

  17. Periodontal Management of Sturge-Weber Syndrome

    Directory of Open Access Journals (Sweden)

    Butchibabu Kalakonda

    2013-01-01

    Full Text Available Sturge-Weber syndrome (SWS is a sporadic disorder and is frequent among the neurocutaneous syndromes specifically with vascular predominance. This syndrome consists of constellation of clinical features like facial nevus, seizures, hemiparesis, intracranial calcifications, and mental retardation. It is characterized by focal port-wine stain, ocular abnormalities (glaucoma, and choroidal hemangioma and leptomeningeal angioma most often involving occipital and parietal lobes. The present paper reports three cases of SWS with oral manifestations and periodontal management, which included thorough scaling and root planing followed by gingivectomy with scalpel and laser in cases 1 and 3 consecutively to treat the gingival enlargement. However, the treatment in case 2 was deferred as the patient was not a candidate for periodontal surgery.

  18. KLIPPEL TRENAUNAY SYNDROME : A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Sonali

    2015-04-01

    Full Text Available INTRODUCTION: Klippel Trenaunay Syndrome is a rare congenital disorder, but it is the most common condition involving combined vascular malformation. KTS was first described by two French Physicians, Klippel and Trenaunay in 1900. (1 Incidence of KTS reported is approximately 2 to 5 cases per 100, 000 live births. ( 2,3 KTS generally affects a single extremity, although cases of multiple affected limbs have been reported. The leg is most common site followed by the arms, the trunk, and rarely the head and neck. The original description of KTS included limb hypertrophy, varicose veins and vascular (Port wine nevus, which were characterised as a clinical triad. Hemangiomatosis is the most frequent finding in these patients and is usually present at birth . ( 4 KTS is also known as angio - osteohypertrophy syndrome, congenital dysplastic angiopathy or klippel trenaunay weber syndrome.

  19. Nail apparatus melanoma initially diagnosed as nail matrix blue nevus: a case report with dermatoscopy and dermatopathology

    Science.gov (United States)

    Akay, Bengu Nisa; Heper, Aylin Okcu; Thomas, Luc; Balme, Brigitte; Clark, Simon; Rosendahl, Cliff

    2017-01-01

    We present a case of nail apparatus melanoma in a 50-year-old woman presenting as new and changing longitudinal melanonychia of the right thumb. Very heavy melanin pigmentation involving both the epidermis and dermis interfered with dermatopathological assessment, which initially leads to a diagnosis of nail matrix blue nevus. After consultation with a specialist multidisciplinary clinic the diagnosis was revised to invasive melanoma, a diagnosis consistent with the clinical and dermatoscopic assessment. PMID:28243499

  20. Lichen planopilaris after imiquimod 5% cream for multiple BCC in basal cell naevus syndrome.

    Science.gov (United States)

    Drummond, Alessandra; Pichler, Janine; Argenziano, Giuseppe; Zalaudek, Iris; Longo, Caterina; Lallas, Aimilios; Piana, Simonetta; Moscarella, Elvira

    2015-11-01

    Basal cell naevus syndrome is an inherited autosomal dominant genetic disorder characterised by multiple basal cell carcinomas (BCC), skeletal, neurological and opthalmological abnormalities. The treatment of choice of the often multiple and large BCC consists of a combined approach including surgery, liquid nitrogen and other topical treatment modalities. Imiquimod 5% cream is an immune-response-modifying drug with antiviral and anti-tumour activity. Recent reports have associated the immune-stimulant properties of imiquimod with the exacerbation of several autoimmune skin diseases, such as eczema, psoriasis, vitiligo and lichenoid dermatitis. Here we report a patient with basal cell naevus syndrome who developed a lichen planopilaris on the same site of the scalp, which had been previously treated with two cycles of imiquimod for multiple BCC.

  1. Myelodysplastic Syndromes

    Science.gov (United States)

    ... your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. ... anemia, or easy bleeding. Myelodysplastic syndromes often do ...

  2. Nevus melanocítico intradérmico congénito gigante. "El niño tortuga (testudines": Caso clínico Giant congenital melanocytic nevus. "Turtle boy": Case report

    Directory of Open Access Journals (Sweden)

    J.F. Arango Ospina

    2009-09-01

    Full Text Available Presentamos el caso de un paciente de 2 años de edad, conocido en su pueblo, como "el niño tortuga (testudines" debido a la gran similitud con dicho reptil. Desde su nacimiento presentó nevus melanocítico gigante localizado en región torácica posterior, región lumbosacra y lesiones satélites en extremidades y abdomen, de 50 por 40cm de diámetro y color café oscuro; la piel en las zonas afectadas es gruesa con grandes surcos de aspecto corrugado (cerebriforme. El nombre dado al niño se basa en la similitud de sus lesiones con la morfología de una tortuga, ya que el caparazón cubre la zona superior, inferior y lateral del cuerpo de este animal, de la misma forma que el nevus gigante lo hacía en el caso de nuestro paciente. Este caparazón está formado por placas óseas revestidas de placas corneas, que se asemejan a los surcos de aspecto corrugado que conforman el nevus melanocítico gigante. Los estudios clínicos practicados revelaron compromiso cardiovascular, hepático y esplénico, así como una desfavorable evolución y pronostico del cuadro clínico, por lo que esta patología, específicamente para este niño y de acuerdo a la junta Médico-Quirúrgica y valoraciones, fue considerada inoperable.We present the case of a 2 years-old patient, known in his town as "turtle boy"(testudines due to his great simility with this reptile because of his giant congenital melanocytic nevus, located in the posterior and lateral aspect of the chest and in smaller proportion in abdomen and extremities, of 50 by 40cm and dark brown colour. The skin in this zone is thick with great furrows and corrugated aspect. He was called "turtle boy" based on the morphology of the turtle, its shell covers the superior, inferior and lateral zone like in our patient's case. It is formed by bone layers covered by cornea layers, which resemble the furrows and corrugated aspect of the giant congenital melanocytic nevus. Medical investigation reveals

  3. Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells

    Science.gov (United States)

    Braune, Katarina; Volkmer, Ines

    2017-01-01

    The Alstrom syndrome gene (ALMS1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms. ALMS1 mutations cause Alstrom syndrome, a rare genetic disorder. However, its function is not completely understood. DNA microarray analysis suggested that ALMS1 might be differentially expressed between Hodgkin lymphoma (HL) cells and normal tissues. By using reverse transcription-polymerase chain reaction (RT-PCR) we detected low but variable expression of ALMS1 in HL cell lines with highest expression in KM-H2 cells. Immunofluorescence indicated centrosomal accumulation of ALMS1 protein in HL cells. Knock-down of ALMS1 in KM-H2 cells had no impact on viability or cytotoxic drug sensitivity of these cells. Sequencing of RT-PCR products from HL cell lines identified three variable regions in ALMS1 transcripts that affect exons 2, 13, and 23. One of these variants was characterized by splicing out of exon 13. The other variants are characterized by two alternative 5 prime ends or alternative 3 prime ends. Structure prediction of the corresponding RNAs and proteins suggest that the different transcript variants might affect posttranscriptional regulation and ligand binding. PMID:28135309

  4. Reduced cell number in the neocortical part of the human fetal brain in Down syndrome

    DEFF Research Database (Denmark)

    Larsen, K.B.; Laursen, H.; Graem, N.;

    2008-01-01

    Mental retardation is seen in all individuals with Down syndrome (DS) and different brain abnormalities are reported. The aim of this study was to investigate if mental retardation at least in part is a result of a lower cell number in the neocortical part of the human fetal forebrain. We therefore....... The average total cell number of 6.85 billion was equal to a reduction by 34% compared to the 10.4 billion cells in a normal fetal brain of that age. This study indicates that the mental retardation found in DS is based on a structural deficit in the human fetal brain already present in the second trimester...

  5. Ovarian juvenile granulosa cell tumor associated with Maffucci's syndrome:case report

    Institute of Scientific and Technical Information of China (English)

    袁键群; 林小娜; 许敬尧; 祝佳; 郑伟良

    2004-01-01

    @@ Granulosa cell tumors (GCTs) are the most common ovarian sex-cord stromal tumors. Two histopathologically well defined patterns of GCTs are known: adult granulosa cell tumor (AGCT) and juvenile granulosa cell tumor (JGCT). JGCTs are rare and those associated with enchondromatosis are much rarer. A review of the literature revealed four previous cases of JGCT were associated with Maffucci ' s syndrome (MS),1-4 and nine with Ollier ' s disease (OD). This report describes ovarian JGCT with MS in a 21-year-old woman, and reviews the clinicopathological causes of both disorders.

  6. Decreased cell proliferation and higher oxidative stress in fibroblasts from Down Syndrome fetuses. Preliminary study.

    Science.gov (United States)

    Gimeno, Amparo; García-Giménez, José Luis; Audí, Laura; Toran, Nuria; Andaluz, Pilar; Dasí, Francisco; Viña, José; Pallardó, Federico V

    2014-01-01

    Down Syndrome is the most common chromosomal disease and is also known for its decreased incidence of solid tumors and its progeroid phenotype. Cellular and systemic oxidative stress has been considered as one of the Down Syndrome phenotype causes. We correlated, in a preliminary study, the fibroblast proliferation rate and different cell proliferation key regulators, like Rcan1 and the telomere length from Down Syndrome fetuses, with their oxidative stress profile and the Ribonucleic acid and protein expression of the main antioxidant enzymes together with their activity. Increased oxidized glutathione/glutathione ratio and high peroxide production were found in our cell model. These results correlated with a distorted antioxidant shield. The messenger RNA (SOD1) and protein levels of copper/zinc superoxide dismutase were increased together with a decreased mRNA expression and protein levels of glutathione peroxidase (GPx). As a consequence the [Cu/ZnSOD/(catalase+GPx)] activity ratio increases which explains the oxidative stress generated in the cell model. In addition, the expression of thioredoxin 1 and glutaredoxin 1 is decreased. The results obtained show a decreased antioxidant phenotype that correlates with increased levels of Regulator of calcineurin 1 and attrition of telomeres, both related to oxidative stress and cell cycle impairment. Our preliminary results may explain the proneness to a progeroid phenotype.

  7. Severe acute respiratory syndrome coronavirus persistence in Vero cells

    Institute of Scientific and Technical Information of China (English)

    Gustavo Palacios; Omar Jabado; Neil Renwick; Thomas Briese; W. Ian Lipkin

    2005-01-01

    Background Several coronaviruses establish persistent infections in vitro and in vivo, however it is unknown whether persistence is a feature of the severe acute respiratory syndorme coronavirus (SARS-CoV) life cycle. This study was conducted to investigate viral persistence.Methods We inoculated confluent monolayers of Vero cells with SARS-CoV at a multiplicity of infection of 0.1 TCID50 and passaged the remaining cells every 4 to 8 days for a total of 11 passages. Virus was titrated at each passage by limited dilution assay and nucleocapsid antigen was detected by Western blot and immunofluoresence assays. The presence of viral particles in passage 11 cells was assessed by electron microscopy. Changes in viral genomic sequences during persistent infection were examined by DNA sequencing. Results Cytopathic effect was extensive after initial inoculation but diminished with serial passages. Infectious virus was detected after each passage and viral growth curves were identical for parental virus stock and virus obtained from passage 11 cells. Nucleocapsid antigen was detected in the majority of cells after initial inoculation but in only 10%-40% of cells at passages 2-11. Electron microscopy confirmed the presence of viral particles in passage 11 cells. Sequence analysis at passage 11 revealed fixed mutations in the spike (S) gene and ORFs 7a-8b but not in the nucleocapsid (N) gene. Conclusions SARS-CoV can establish a persistent infection in vitro. The mechanism for viral persistence is consistent with the formation of a carrier culture whereby a limited number of cells are infected with each round of virus replication and release. Persistence is associated with selected mutations in the SARS-CoV genome. This model may provide insight into SARS-related lung pathology and mechanisms by which humans and animals can serve as reservoirs for infection.

  8. Induced pluripotent stem cells as a cellular model for studying Down Syndrome

    Science.gov (United States)

    Brigida, Anna Lisa; Siniscalco, Dario

    2016-01-01

    Down Syndrome (DS), or Trisomy 21 Syndrome, is one of the most common genetic diseases. It is a chromosomal abnormality caused by a duplication of chromosome 21. DS patients show the presence of a third copy (or a partial third copy) of chromosome 21 (trisomy), as result of meiotic errors. These patients suffer of many health problems, such as intellectual disability, congenital heart disease, duodenal stenosis, Alzheimer’s disease, leukemia, immune system deficiencies, muscle hypotonia and motor disorders. About one in 1000 babies born each year are affected by DS. Alterations in the dosage of genes located on chromosome 21 (also called HSA21) are responsible for the DS phenotype. However, the molecular pathogenic mechanisms of DS triggering are still not understood; newest evidences suggest the involvement of epigenetic mechanisms. For obvious ethical reasons, studies performed on DS patients, as well as on human trisomic tissues are limited. Some authors have proposed mouse models of this syndrome. However, not all the features of the syndrome are represented. Stem cells are considered the future of molecular and regenerative medicine. Several types of stem cells could provide a valid approach to offer a potential treatment for some untreatable human diseases. Stem cells also represent a valid system to develop new cell-based drugs and/or a model to study molecular disease pathways. Among stem cell types, patient-derived induced pluripotent stem (iPS) cells offer some advantages for cell and tissue replacement, engineering and studying: self-renewal capacity, pluripotency and ease of accessibility to donor tissues. These cells can be reprogrammed into completely different cellular types. They are derived from adult somatic cells via reprogramming with ectopic expression of four transcription factors (Oct3/4, Sox2, c-Myc and Klf4; or, Oct3/4, Sox2, Nanog, and Lin28). By reprogramming cells from DS patients, it is possible to obtain new tissue with the same

  9. Bromodeoxyuridine does not contribute to sister chromatid exchange events in normal or Bloom syndrome cells.

    Science.gov (United States)

    van Wietmarschen, Niek; Lansdorp, Peter M

    2016-08-19

    Sister chromatid exchanges (SCEs) are considered sensitive indicators of genome instability. Detection of SCEs typically requires cells to incorporate bromodeoxyuridine (BrdU) during two rounds of DNA synthesis. Previous studies have suggested that SCEs are induced by DNA replication over BrdU-substituted DNA and that BrdU incorporation alone could be responsible for the high number of SCE events observed in cells from patients with Bloom syndrome (BS), a rare genetic disorder characterized by marked genome instability and high SCE frequency. Here we show using Strand-seq, a single cell DNA template strand sequencing technique, that the presence of variable BrdU concentrations in the cell culture medium and in DNA template strands has no effect on SCE frequency in either normal or BS cells. We conclude that BrdU does not induce SCEs and that SCEs detected in either normal or BS cells reflect DNA repair events that occur spontaneously.

  10. Binding of toxic-shock-syndrome toxin-1 to human peripheral blood mononuclear cells

    Energy Technology Data Exchange (ETDEWEB)

    Poindexter, N.J.; Schlievert, P.M.

    1987-07-01

    Toxic-shock-syndrome toxin-1 (TSST-1), produced by Staphylococcus aureus and associated with toxic shock syndrome, functions in vitro as both a lymphoproliferative and immunosuppressive protein for human peripheral blood mononuclear cells (PBMs). We analyzed TSST-1-target cell interactions by receptor-ligand binding analyses. In competitive binding experiments, 2 X 10(5) human PBMs or purified cell populations were incubated in the presence of small amounts of (5-50 ng) of /sup 125/I-labeled TSST-1 and increasing amounts of unlabeled TSST-1 (25-10,000 ng). Data were analyzed by the method of Scatchard. Toxin-specific receptors were shown to exist on T lymphocytes within the PBM population. T4+ cells had 27.5 X 10(6) receptors per cell, and T8+ cells had 9 X 10(6) receptors per cell. T4+ and T8+ receptors had dissociation constants of 2.58 X 10(-8) M and 1.8 X 10(-8) M, respectively. These studies confirm earlier work showing that TSST-1 causes the functional activation of a population of T lymphocytes involved in suppression of immunoglobulin responses.

  11. Cerebral salt-wasting syndrome after hematopoietic stem cell transplantation in adolescents: 3 case reports.

    Science.gov (United States)

    Jeon, Yeon Jin; Lee, Hyun Young; Jung, In Ah; Cho, Won-Kyoung; Cho, Bin; Suh, Byung-Kyu

    2015-12-01

    Cerebral salt-wasting syndrome (CSWS) is a rare disease characterized by a extracellular volume depletion and hyponatremia induced by marked natriuresis. It is mainly reported in patients who experience a central nervous system insult, such as cerebral hemorrhage or encephalitis. The syndrome of inappropriate antidiuretic hormone secretion is a main cause of severe hyponatremia after hematopoietic stem cell transplantation, whereas CSWS is rarely reported. We report 3 patients with childhood acute leukemia who developed CSWS with central nervous system complication after hematopoietic stem cell transplantation. The diagnosis of CSW was made on the basis of severe hyponatremia accompanied by increased urine output with clinical signs of dehydration. All patients showed elevated natriuretic peptide and normal antidiuretic hormone. Aggressive water and sodium replacement treatment was instituted in all 3 patients and 2 of them were effectively recovered, the other one was required to add fludrocortisone administration.

  12. Oral diffuse B-cell non-Hodgkin′s lymphoma associated to Gorlin-Goltz syndrome: A case report with one year follow-up

    Directory of Open Access Journals (Sweden)

    Cláudio M Pereira

    2011-01-01

    Full Text Available Nevoid cell carcinoma syndrome or Gorlin-Goltz syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinoma, multiple keratocyst tumors, and skeletal anomalies. The Gorlin-Goltz syndrome has been associated with numerous benign and malignant neoplasms. The authors describe a case of Gorlin-Goltz syndrome in association with non-Hodgkin′s lymphoma. To the best of our knowledge, this is the second case described in the English literature.

  13. Estimation of cell membrane properties and erythrocyte red-ox balance in patients with metabolic syndrome

    OpenAIRE

    Kowalczyk, Edward; Kowalski, Jan; Błaszczyk, Jan; Gwoździński, Łukasz; Ciećwierz, Julita; Sienkiewicz, Monika

    2012-01-01

    Metabolic syndrome (MS) is associated with occurrence of the many cardiovascular risk factors such as atherogenic dyslipidemia, visceral fat distribution, arterial hypertension and pro-thrombotic and pro-inflammatory status. In our study the effect of disorders that appear in MS on red-ox balance and erythrocyte cell membrane properties were estimated. The study comprised 50 patients with diagnosed MS and in 25 healthy subjects. Content of thiobarbituric acid reactive substances (TBARS) and c...

  14. Endothelial Progenitor Cell Dysfunction in Polycystic Ovary Syndrome: Implications for The Genesis of Cardiovascular Diseases

    OpenAIRE

    Yu-Hsun Kao; Wan-Chun Chiu; Ming-I Hsu; Yi-Jen Chen

    2013-01-01

    Polycystic ovary syndrome (PCOS), the most common endocrine disorder affecting women of reproductive age, is characterized by hyperandrogenism and insulin resistance. Women with PCOS have a higher risk for cardiovascular diseases (CVDs) and endothelial dysfunction. The mechanisms underlying these risks are unclear. Human peripheral blood contains circulating endothelial progenitor cells (EPCs) derived from bone marrow that have the ability to proliferate and differentiate into mature endothel...

  15. Elevated Frequencies of Circulating Th22 Cell in Addition to Th17 Cell and Th17/Th1 Cell in Patients with Acute Coronary Syndrome

    OpenAIRE

    Lei Zhang; Ting Wang; Xiao-qi Wang; Rui-zhi Du; Kai-ning Zhang; Xin-guang Liu; Dao-xin Ma; Shuang Yu; Guo-hai Su; Zhen-hua Li; Yu-qing Guan; Nai-li Du

    2013-01-01

    BACKGROUND: Atherosclerosis is a chronic inflammatory disease mediated by immune cells. Th22 cells are CD4(+) T cells that secret IL-22 but not IL-17 or IFN-γ and are implicated in the pathogenesis of inflammatory disease. The roles of Th22 cells in the pathophysiologic procedures of acute coronary syndrome (ACS) remain unclear. The purpose of this study is to investigate the profile of Th22, Th17 and Th17/Th1 cells in ACS patients, including unstable angina (UA) and acute myocardial infarcti...

  16. Evaluation of the Endothelial Cell Density and the Central Corneal Thickness in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

    Directory of Open Access Journals (Sweden)

    Bożydar T. Tomaszewski

    2014-01-01

    Full Text Available Purpose. Evaluation of central corneal thickness (CCT and endothelial cell density (ECD in patients with senile cataract and coexisting pseudoexfoliation (PEX syndrome with glaucoma (PEXG and without glaucoma using specular microscopy. Participants and Methods. The study included 122 patients (217 eyes. In this group of patients we identified 133 eyes with PEX syndrome (65 with glaucoma, 68 without glaucoma and 84 eyes without PEX syndrome. ECD and CCT were measured in each eye by specular microscopy. Results. ECD in eyes with PEX syndrome without glaucoma (2297 ± 359 cell/mm2 and in eyes with PEXG (2241 ± 363 cell/mm2 was lower than in the control group (2503 ± 262 cell/mm2 (P<0.001. CCT in eyes with PEXG (508.2 ± 32.6 μm was thinner than in eyes with PEX syndrome without glaucoma (529.7 ± 30.3 μm and control group (527.7 ± 29.4 μm (P<0.001. Conclusions. This research shows that in eyes with PEX syndrome, both with and without glaucoma, ECD was statistically significantly lower than in the control group. In patients with PEXG, CCT was statistically significantly thinner than in the PEX syndrome and control group.

  17. Vismodegib hedgehog-signaling inhibition and treatment of basal cell carcinomas as well as keratocystic odontogenic tumors in Gorlin syndrome.

    Science.gov (United States)

    Booms, Patrick; Harth, Marc; Sader, Robert; Ghanaati, Shahram

    2015-01-01

    Vismodegib hedgehog signaling inhibition treatment has potential for reducing the burden of multiple skin basal cell carcinomas and jaw keratocystic odontogenic tumors. They are major criteria for the diagnosis of Gorlin syndrome, also called nevoid basal cell carcinoma syndrome. Clinical features of Gorlin syndrome are reported, and the relevance of hedgehog signaling pathway inhibition by oral vismodegib for maxillofacial surgeons is highlighted. In summary, progressed basal cell carcinoma lesions are virtually inoperable. Keratocystic odontogenic tumors have an aggressive behavior including rapid growth and extension into adjacent tissues. Interestingly, nearly complete regression of multiple Gorlin syndrome-associated keratocystic odontogenic tumors following treatment with vismodegib. Due to radio-hypersensitivity in Gorlin syndrome, avoidance of treatment by radiotherapy is strongly recommended for all affected individuals. Vismodegib can help in those instances where radiation is contra-indicated, or the lesions are inoperable. The effect of vismodegib on basal cell carcinomas was associated with a significant decrease in hedgehog-signaling and tumor proliferation. Vismodegib, a new and approved drug for the treatment of advanced basal cell carcinoma, is a specific oncogene inhibitor. It also seems to be effective for treatment of keratocystic odontogenic tumors and basal cell carcinomas in Gorlin syndrome, rendering the surgical resections less challenging.

  18. Cell-Assisted Lipotransfer for the Treatment of Parry-Romberg Syndrome

    Directory of Open Access Journals (Sweden)

    Yanko Castro-Govea

    2012-11-01

    Full Text Available Progressive facial hemiatrophy, also known as Parry-Romberg syndrome, is a progressive andself-limited deformation of the subcutaneous tissue volume on one side of the face thatcreates craniofacial asymmetry. We present the case of a patient with a five-year historyof progressive right facial hemiatrophy, who underwent facial volumetric restoration usingcell-assisted lipotransfer (CAL, which consists of an autologous fat graft enriched withadipose-derived stem cells (ASCs extracted from the same patient. ASCs have the capacityto differentiate into adipocytes. They also promote angiogenesis, release angiogenic growthfactors, and some can survive as stem cells. The use of autologous fat as a filler in soft tissueatrophy has been satisfactory in patients with mild and moderate Parry-Romberg syndrome.Currently, CAL has showed promising results in the long term by decreasing the rate of fatreabsorption. The permanence and stability of the graft in all the injected areas has showedthat autologous fat grafts enriched with stem cells could be a promising technique for thecorrection of defects caused by this syndrome.

  19. Mast Cell Tryptase Reduces Junctional Adhesion Molecule-A (JAM-A) Expression in Intestinal Epithelial Cells: Implications for the Mechanisms of Barrier Dysfunction in Irritable Bowel Syndrome.

    LENUS (Irish Health Repository)

    Wilcz-Villega, Ewa M

    2013-07-01

    The objective of this study was to investigate how mast cell tryptase may influence intestinal permeability and tight junction (TJ) proteins in vitro and explore translation to irritable bowel syndrome (IBS).

  20. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi

    2013-01-01

    Full Text Available Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  1. Gorlin syndrome.

    Science.gov (United States)

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

    2013-05-01

    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  2. Primary cardiac B cell lymphoma: Manifestation of Felty's syndrome or TNFα antagonist.

    Science.gov (United States)

    Benzerdjeb, Nazim; Ameur, Fatima; Ikoli, Jean-Fortune; Sevestre, Henri

    2016-12-01

    Primary cardiac B cell lymphoma is rare. To date, fewer than 90 cases have been described in the literature. We report a 67-year-old woman with a 30-year history of rheumatoid arthritis, who had received treatment with leflunomide for 10 years and infliximab for 2 years. Secondary Felty's syndrome appeared. She was admitted to the hospital for abdominal pain. Investigations disclosed a 5cm cardiac mass in the right atrium. Histopathologic examination of tissue specimens obtained at surgical myocardial biopsy demonstrated primary cardiac B cell lymphoma. The other iatrogenic lymphoproliferative disorders are reviewed. This lesion might be a manifestation of long term TNFα antagonists treatment.

  3. Opsoclonus-myoclonus syndrome associated with non-small cell lung cancer.

    Science.gov (United States)

    Karasaki, Takahiro; Tanaka, Makoto

    2015-11-01

    A 68-year-old man developed progressive vertigo, saccadic eye movements, and tremors. Computed tomography showed multiple lung nodules. Surgery was performed and the pathological diagnosis was large cell neuroendocrine carcinoma in the left upper lobe with ipsilobar metastases, and adenocarcinoma in the left lower lobe. The neurological symptoms resolved dramatically after complete resection of the tumors. Opsoclonus-myoclonus syndrome associated with non-small-cell lung carcinoma is extremely rare. Surgery should not be delayed if a complete resection is expected.

  4. Potential therapeutic application of adult stem cells in acute respiratory distress syndrome

    Institute of Scientific and Technical Information of China (English)

    JIANG Jian-xin; LI Li

    2009-01-01

    Acute respiratory distress syndrome (ARDS) remains a poor prognosis in spite of the recent development of new therapeutic strategies. Cell-based therapy with stem cells has been considered as a promising way for the treatment of vital organ damage. Putative endogenous stem cells have been shown to be located within the adult lung in the basal layer of the upper airways, within or near pulmonary neu-roendocrine cell rests, at the bronchoalveolar junction, as well as within the alveolar epithelium. These stem cells are hypothesized to be the source of lung regeneration and repair. But this mechanism seems to be insufficient after lung injury. There is increasing excitement over the last few years with the suggestion that exogenous stem cells may offer new treatment options for ARDS. Exogenous stem cells have the abihty to differentiate and function as both airway and lung parenchymal epithelial cells in both in vitro and in-creasingly in vivo experiments. However, there is great con-troversy concerning the repair effect of adult stem cells in lung injury. This review evaluates the advances in endog-enous respiratory stem cells, and assesses the evidence for the use of stem cells in the repair of lung injury.

  5. Bone Marrow-Derived Stem Cell (BMDSC transplantation improves fertility in a murine model of Asherman's syndrome.

    Directory of Open Access Journals (Sweden)

    Feryal Alawadhi

    Full Text Available Asherman's Syndrome is characterized by intrauterine adhesions or fibrosis resulting as a consequence of damage to the basal layer of endometrium and is associated with infertility due to loss of normal endometrium. We have previously shown that bone marrow derived stem cells (BMDSCs engraft the endometrium in mice and humans and Ischemia/reperfusion injury of uterus promoted BMDSCs migration to the endometrium; however, the role of BMDSCs in Asherman's syndrome has not been characterized. Here a murine model of Asherman's syndrome was created by traumatizing the uterus. We evaluate stem cell recruitment and pregnancy after BMDSCs transplantation in a model of Asherman's syndrome. In the Asheman's syndrome model, after BMDSC transplant, the Y chromosome bearing CD45-cells represented less than 0.1% of total endometrial cells. Twice the number of Y+CD45- cells was identified in the damaged uterus compared to the uninjured controls. There was no significant difference between the damaged and undamaged uterine horns in mice that received injury to a single horn. In the BMDSC transplant group, 9 of the 10 mice conceived, while only 3 of 10 in the non-transplanted group conceived (Chi-Square p = 0.0225; all mice in an uninjured control group conceived. The time to conception and mean litter size were not different between groups. Taken together, BMDSCs are recruited to endometrium in response to injury. Fertility improves after BMDSC transplant in Asherman's Syndrome mice, demonstrating a functional role for these cells in uterine repair. BMDSC transplantation is a potential novel treatment for Asherman's Syndrome and may also be useful to prevent Asherman's syndrome after uterine injury.

  6. Jiawei Erzhiwan improves menopausal metabolic syndrome by enhancing insulin secretion in pancreatic β cells.

    Science.gov (United States)

    Wan, Xiao-Meng; Zhang, Mu; Zhang, Pei; Xie, Zhi-Shen; Xu, Feng-Guo; Zhou, Ping; Ma, Shi-Ping; Xu, Xiao-Jun

    2016-11-01

    Menopausal metabolic syndrome (MMS) is a series of syndrome caused by ovarian function decline and hormone insufficiency, and is a high risk factor for cardiovascular diseases (CVD) and type II diabetes mellitus (T2DM). Erzhiwan (EZW), composed of Herba Ecliptae and Fructus Ligustri Lucidi, is a traditional Chinese herbal formula that has been used to treat menopausal syndrome for many years. We added Herba Epimedii, Radix Rehmanniae, and Fructus Corni into EZW, to prepare a new formula, termed Jiawei Erzhiwan (JE). The present study was designed to determine the anti-MMS effects of JE using ovariectomized (OVX) adult female rats that were treated with JE for 4 weeks, and β-tc-6 cells and INS cells were used to detected the protect effectiveness of JE. Our results showed JE could increase insulin sensitivity and ameliorated hyperlipidemia. Metabolomics analysis showed that the serum levels of branched and aromatic amino acids were down-regulated in serum by JE administration. Moreover, JE enhanced the function of islet β cells INS-1 and β-tc-6, through increasing the glucose stimulated insulin secretion (GSIS), which was abolished by estrogen receptor (ER) antagonist, indicating that JE functions were mediated by ER signaling. Additionally, JE did not induce tumorigenesis in rat mammary tissue or promoted proliferation of MCF-7 and Hela cells. In conclusion, our work demonstrated that JE ameliorated OVX-induced glucose and lipid metabolism disorder through activating estrogen receptor pathway and promoting GSIS in islet β cells, thus indicating that JE could be a safe and effective medication for MMS therapy.

  7. Reversible Posterior Leukoencephalopathy Syndrome Developing After Restart of Sunitinib Therapy for Metastatic Renal Cell Carcinoma

    Directory of Open Access Journals (Sweden)

    Shinji Fukui

    2016-01-01

    Full Text Available A 64-year-old Japanese man had started molecular-targeted therapy with sunitinib for lymph node metastasis 5 years after nephrectomy for left renal cell carcinoma (clear cell carcinoma, G2, pT2N0M0. He was transported to our emergency department because of generalized tonic-clonic seizure, vision loss, and impaired consciousness with acute hypertension after 8 cycles of treatment (2 years after the initiation of sunitinib therapy, including a drug withdrawal period for one year. MRI of the brain (FLAIR images showed multiple high-intensity lesions in the white matter of the occipital and cerebellar lobes, dorsal brain stem, and left thalamus. Reversible posterior leukoencephalopathy syndrome caused by sunitinib was suspected. In addition to the immediate discontinuation of sunitinib therapy, the administration of antihypertensive agents and anticonvulsants improved the clinical symptoms without neurological damage. Physicians should be aware that sunitinib causes reversible posterior leukoencephalopathy syndrome. The early recognition of reversible posterior leukoencephalopathy syndrome is critical to avoid irreversible neurological damage.

  8. Gene expression of adipose tissue, endothelial cells and platelets in subjects with metabolic syndrome (Review).

    Science.gov (United States)

    Pérez, Pablo M; Moore-Carrasco, Rodrigo; González, Daniel R; Fuentes, Eduardo Q; Palomo, Iván G

    2012-05-01

    Metabolic syndrome is a combination of medical disorders including hypertension, dyslipidemia, hyperglycemia, insulin resistance and increased waist circumference, and is associated with a higher risk of cardiovascular disease. An increase in adipose tissue mass is associated with the augmented secretion of certain adipokines, such as interleukin-6, tumor necrosis factor-α and resistin, which cause endothelial dysfunction (an increase in vasoconstrictor molecules and in the expression of adhesion molecules as well as a decrease of vasodilator molecules, amongst other features) and hemostasis alterations that also favor a prothrombotic state (increased fibrinogen and plasminogen activator inhibitor-1 concentrations and platelet activation/aggregation). This interaction between adipose tissue, endothelial cells and platelets is associated with an increase or decrease in the expression of several transcription factors (peroxisome proliferator-activated receptors, CCAAT-enhancer-binding proteins, carbohydrate responsive element-binding proteins and sterol regulatory element-binding proteins) that play a crucial role in the regulation of distinct metabolic pathways related to the metabolic syndrome. In the present review, we present the primary changes in adipose tissue, endothelial cells and platelets in subjects with metabolic syndrome and their possible target sites at the gene expression level.

  9. Minimal change nephrotic syndrome after stem cell transplantation: a case report and literature review

    Directory of Open Access Journals (Sweden)

    Silva Sandra

    2007-10-01

    Full Text Available Abstract Graft-versus-host disease is one of the most frequent complications occurring after haematopoietic stem cell transplantation. Recently, renal involvement has been described as a manifestation of chronic graft-versus-host disease. Immunosuppression seems to play a major role: clinical disease is triggered by its tapering and resolution is achieved with the resumption of the immunosuppressive therapy. Prognosis is apparently favourable, but long term follow up data are lacking. We report a case of a 53-year-old man who developed nephrotic syndrome 142 days after allogeneic stem cell transplantation for acute myeloid leukaemia. Onset of nephrotic syndrome occurred after reduction of immunosuppressants and was accompanied by manifestations of chronic graft-versus-host disease. Histological examination of the kidney was consistent with Minimal Change Disease. After treatment with prednisolone and mycophenolate mofetil he had complete remission of proteinuria and improvement of graft-versus-host disease. Eighteen months after transplantation the patient keeps haematological remission and normal renal function, without proteinuria. Since patients with chronic graft-versus-host disease might be considered at risk for development of nephrotic syndrome, careful monitoring of renal parameters, namely proteinuria, is advisable.

  10. Minimal change nephrotic syndrome after stem cell transplantation: a case report and literature review.

    Science.gov (United States)

    Silva, Sandra; Maximino, José; Henrique, Rui; Paiva, Ana; Baldaia, Jorge; Campilho, Fernando; Pimentel, Pedro; Loureiro, Alfredo

    2007-10-30

    Graft-versus-host disease is one of the most frequent complications occurring after haematopoietic stem cell transplantation. Recently, renal involvement has been described as a manifestation of chronic graft-versus-host disease. Immunosuppression seems to play a major role: clinical disease is triggered by its tapering and resolution is achieved with the resumption of the immunosuppressive therapy. Prognosis is apparently favourable, but long term follow up data are lacking.We report a case of a 53-year-old man who developed nephrotic syndrome 142 days after allogeneic stem cell transplantation for acute myeloid leukaemia. Onset of nephrotic syndrome occurred after reduction of immunosuppressants and was accompanied by manifestations of chronic graft-versus-host disease. Histological examination of the kidney was consistent with Minimal Change Disease. After treatment with prednisolone and mycophenolate mofetil he had complete remission of proteinuria and improvement of graft-versus-host disease. Eighteen months after transplantation the patient keeps haematological remission and normal renal function, without proteinuria.Since patients with chronic graft-versus-host disease might be considered at risk for development of nephrotic syndrome, careful monitoring of renal parameters, namely proteinuria, is advisable.

  11. A candidate region for Nevoid Basal Cell Carcinoma Syndrome defined by genetic and physical mapping

    Energy Technology Data Exchange (ETDEWEB)

    Wainwright, B.; Negus, K.; Berkman, J. [Univ. of Queensland, Brisbane (Australia)] [and others

    1994-09-01

    Nevoid Basal Cell Carcinoma Syndrome (NBCCS, or Gorlin`s syndrome) is a cancer predisposition syndrome charcterized by multiple basal cell carcinomas (BCCs) and diverse developmental defects. The gene responsible for NBCCS, which is most likely to be a tumor suppressor gene, has previously been mapped to 9q22.3-q31 in a 12 cM interval between the microsatellite marker loci D9S12 and D9S109. Combined multipoint and haplotype analyses of Australian pedigrees has further refined the localization to a 2 cM interval between markers D9S196 and D9S180. Our loss of heterozygosity (LOH) studies from sporadic (n= 58) and familial (n=41) BCCs indicate that 50% have deletions within the NBCCS candidate region. All LOH is consistent with the genetic mapping of the NBCCS locus. Additionally, one sporadic tumor indicates that the smallest region of overlap in the deletions is within the interval D9S287 (proximal) and D9S180 (distal). A series of YAC clones from within this region has been mapped by FISH to examine chimerism. These clones, which have been mapped with respect to one another, form a contig which encompasses the candidate region from D9S196 to D9S180.

  12. Usp16 contributes to somatic stem-cell defects in Down's syndrome.

    Science.gov (United States)

    Adorno, Maddalena; Sikandar, Shaheen; Mitra, Siddhartha S; Kuo, Angera; Nicolis Di Robilant, Benedetta; Haro-Acosta, Veronica; Ouadah, Youcef; Quarta, Marco; Rodriguez, Jacqueline; Qian, Dalong; Reddy, Vadiyala M; Cheshier, Samuel; Garner, Craig C; Clarke, Michael F

    2013-09-19

    Down's syndrome results from full or partial trisomy of chromosome 21. However, the consequences of the underlying gene-dosage imbalance on adult tissues remain poorly understood. Here we show that in Ts65Dn mice, which are trisomic for 132 genes homologous to genes on human chromosome 21, triplication of Usp16 reduces the self-renewal of haematopoietic stem cells and the expansion of mammary epithelial cells, neural progenitors and fibroblasts. In addition, Usp16 is associated with decreased ubiquitination of Cdkn2a and accelerated senescence in Ts65Dn fibroblasts. Usp16 can remove ubiquitin from histone H2A on lysine 119, a critical mark for the maintenance of multiple somatic tissues. Downregulation of Usp16, either by mutation of a single normal Usp16 allele or by short interfering RNAs, largely rescues all of these defects. Furthermore, in human tissues overexpression of USP16 reduces the expansion of normal fibroblasts and postnatal neural progenitors, whereas downregulation of USP16 partially rescues the proliferation defects of Down's syndrome fibroblasts. Taken together, these results suggest that USP16 has an important role in antagonizing the self-renewal and/or senescence pathways in Down's syndrome and could serve as an attractive target to ameliorate some of the associated pathologies.

  13. Rare Association of Anti-Hu Antibody Positive Paraneoplastic Neurological Syndrome and Transitional Cell Bladder Carcinoma

    Directory of Open Access Journals (Sweden)

    S. Lukacs

    2012-01-01

    Full Text Available Introduction. Paraneoplastic encephalomyelitis (PEM and subacute sensory neuronopathy (SSN are remote effects of cancer, usually associated with small-cell lung carcinoma and positive anti-Hu antibody. We describe the rare association of bladder transitional cell carcinoma (TCC with anti-Hu antibody positivity resulting in this paraneoplastic neurological syndrome. Patient. A 76-year-old female presented with bilateral muscle weakness and paraesthesia of the upper and lower limbs in a length-dependent “glove and stocking” distribution. Central nervous system symptoms included cognitive problems, personality change, and truncal ataxia. Case notes and the literature were reviewed. Result. Autoantibody screening was positive for anti-Hu antibody (recently renamed antineuronal nuclear antibody 1, ANNA-1. The diagnosis of PEM and SSN was supported by MRI and lumbar puncture results. A superficial bladder TCC was demonstrated on CT and subsequently confirmed on histology. No other primary neoplasm was found on full-body imaging. The neurological symptoms were considered to be an antibody-mediated paraneoplastic neurological syndrome and improved after resection of the tumour. Discussion. The association of anti-Hu positive paraneoplastic neurological syndrome and TCC has not been described in the literature previously. We emphasize the need for detailed clinical examination and the importance of a multidisciplinary thought process and encourage further awareness of this rare association.

  14. Laser treatment of nevus flammus (port-wine stain) with spectroscopic feedback: the smart scalpel

    Science.gov (United States)

    Sebern, Elizabeth L.; Brenan, Colin J. H.; Anderson, R. Rox; Hunter, Ian W.

    1999-06-01

    While feedback control is widespread throughout many engineering fields, surgical instruments with embedded feedback control systems are uncommon. To improve the effectiveness of microsurgical techniques, we are presently developing a semi-autonomous robotic surgical tool as an alternative approach to treatment of skin hemangiomas like nevus flammus. Current PWS phototherapy relies on selective absorption of optical radiation by the ectatic blood vessels in a PWS resulting in thermally-mediated vessel necrosis. Although shown to be effective,heating of the surrounding tissue by photon absorption results in unacceptable collateral damage. The 'Smart Scalpel' approach employs optical reflectance spectroscopy to selectively target blood vessels in a PWS for heating with a focused laser beam. Collateral damage to adjacent tissue is substantially minimized and continuous imaging throughout the procedure allows modification of the delivered therapy to optimize therapeutic outcomes. Our work reported here involves optical system design and construction, initial quantification of imaging system resolution and contrast, and preliminary verification of the imaging and targeting strategies.

  15. Effects of human mesenchymal stem cell transplantation in the bilateral corpus striatum in a rat model of Tourette's syndrome

    Institute of Scientific and Technical Information of China (English)

    Xiumei Liu; Yuwei Wang; Mingji Yi

    2010-01-01

    Tourette's syndrome is treated by behavioral or pharmacological therapy.However,patients with malignant Tourette's syndrome also exhibit life-threatening symptoms,which are unresponsive to conservative treatments or neurosurgical procedures,such as deep brain stimulation.In recent years,mesenchymal stem cells(MSCs)have shown therapeutic potential in many neurological diseases.Therefore,the present study proposed to use MSC transplantation as a novel therapy for Tourette's syndrome.Stereotypic behaviors in Tourette's syndrome rats decreased significantly at21 days after human MSCs transplantation into the striatum.Immunohistochemistry analyses revealed survival of transplanted human MSCs and differentiation into neurons and astrocytes in the rat brain.Results suggest that intrastriatal transplantation of human MSCs could provide therapeutic potential for Tourette's syndrome.

  16. Red blood cells in Rett syndrome: oxidative stress, morphological changes and altered membrane organization.

    Science.gov (United States)

    Ciccoli, Lucia; De Felice, Claudio; Leoncini, Silvia; Signorini, Cinzia; Cortelazzo, Alessio; Zollo, Gloria; Pecorelli, Alessandra; Rossi, Marcello; Hayek, Joussef

    2015-11-01

    In this review, we summarize the current evidence on the erythrocyte as a previously unrecognized target cell in Rett syndrome, a rare (1:10 000 females) and devastating neurodevelopmental disorder caused by loss-of-function mutations in a single gene (i.e. MeCP2, CDKL5, or rarely FOXG1). In particular, we focus on morphological changes, membrane oxidative damage, altered membrane fatty acid profile, and aberrant skeletal organization in erythrocytes from patients with typical Rett syndrome and MeCP2 gene mutations. The beneficial effects of ω-3 polyunsaturated fatty acids (PUFAs) are also summarized for this condition to be considered as a 'model' condition for autism spectrum disorders.

  17. Collecting duct renal cell carcinoma with the syndrome of inappropriate antidiuresis: An autopsy case report

    Directory of Open Access Journals (Sweden)

    Emi Yasuda

    2013-01-01

    Full Text Available A 57-year-old Japanese man visited our hospital with a moist cough. Chest radiographic imaging showed a left hilar shadow. Adenocarcinoma cells were found on cytologic screening of fresh sputum. Although multiple metastases including brain were detected, no tumor was observed in the kidneys. The patient underwent whole-brain irradiation and chemotherapy for advanced-stage lung cancer. One month before his death, carcinomatous meningitis was detected. Hyponatremia, hypo-osmolality, and hypertonic urine suggested the syndrome of inappropriate antidiuresis. Restricting water intake improved the hyponatremia; however, he developed fever and hematuria. Despite systemic administration of an antibacterial drug, he died. Primary tumor in the lung was absent, but adenocarcinoma of the right kidney was evident on autopsy. Lectin histochemical analysis of the carcinoma revealed its distal nephron origin, confirming collecting duct carcinoma. Severe carcinomatous meningitis, which is possibly caused the syndrome of inappropriate antidiuresis, was observed, with no cancer involvement of the pituitary gland and hypothalamus.

  18. Recurrence of keratocyst in nevoid basal cell carcinoma syndrome: A major diagnostic dilemma for clinicians

    Directory of Open Access Journals (Sweden)

    Anurag Gupta

    2013-01-01

    Full Text Available The odontogenic keratocysts (OKC usually represent a particular entity that has been of interest primarily due to biological aggressiveness and to its frequent recurrence. Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome is a hereditary condition characterized by a wide-range of developmental abnormalities and a predisposition to neoplasms. There are several possible reasons why OKC recur so frequently and require meticulous surgical planning and execution. This article has attempted to show that there is a lack of published evidence regarding the cause of frequent recurrent of OKC that presented in NBCCS. However, the findings of the study revealed differences in opinion regarding the treatment modalities, which necessitates further long term clinical studies that could precisely document certain reliable guidelines in this point of view.

  19. Vascular disease modeling using induced pluripotent stem cells: Focus in Hutchinson-Gilford Progeria Syndrome.

    Science.gov (United States)

    Pitrez, P R; Rosa, S C; Praça, C; Ferreira, L

    2016-05-06

    Induced pluripotent stem cells (iPSCs) represent today an invaluable tool to create disease cell models for modeling and drug screening. Several lines of iPSCs have been generated in the last 7 years that changed the paradigm for studying diseases and the discovery of new drugs to treat them. In this article we focus our attention to vascular diseases in particular Hutchinson-Gilford Progeria Syndrome (HGPS), a devastating premature aging disease caused by a mutation in the lamin A gene. In general, patients die because of myocardial infarction or stroke. Because the patients are fragile the isolation of a particular type of cells is very difficult. Therefore in the last 5 years, researchers have used cells derived from iPSCs to model aspects of the HGPS and to screen libraries of chemicals to retard or treat the disease.

  20. Suppression of starvation-induced autophagy by recombinant toxic shock syndrome toxin-1 in epithelial cells.

    Directory of Open Access Journals (Sweden)

    Krisana Asano

    Full Text Available Toxic shock syndrome toxin-1 (TSST-1, a superantigen produced from Staphylococcus aureus, has been reported to bind directly to unknown receptor(s and penetrate into non-immune cells but its function is unclear. In this study, we demonstrated that recombinant TSST-1 suppresses autophagosomal accumulation in the autophagic-induced HeLa 229 cells. This suppression is shared by a superantigenic-deficient mutant of TSST-1 but not by staphylococcal enterotoxins, suggesting that autophagic suppression of TSST-1 is superantigenic-independent. Furthermore, we showed that TSST-1-producing S. aureus suppresses autophagy in the response of infected cells. Our data provides a novel function of TSST-1 in autophagic suppression which may contribute in staphylococcal persistence in host cells.

  1. Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.

    Science.gov (United States)

    Ross, Alison J; May-Simera, Helen; Eichers, Erica R; Kai, Masatake; Hill, Josephine; Jagger, Daniel J; Leitch, Carmen C; Chapple, J Paul; Munro, Peter M; Fisher, Shannon; Tan, Perciliz L; Phillips, Helen M; Leroux, Michel R; Henderson, Deborah J; Murdoch, Jennifer N; Copp, Andrew J; Eliot, Marie-Madeleine; Lupski, James R; Kemp, David T; Dollfus, Hélène; Tada, Masazumi; Katsanis, Nicholas; Forge, Andrew; Beales, Philip L

    2005-10-01

    The evolutionarily conserved planar cell polarity (PCP) pathway (or noncanonical Wnt pathway) drives several important cellular processes, including epithelial cell polarization, cell migration and mitotic spindle orientation. In vertebrates, PCP genes have a vital role in polarized convergent extension movements during gastrulation and neurulation. Here we show that mice with mutations in genes involved in Bardet-Biedl syndrome (BBS), a disorder associated with ciliary dysfunction, share phenotypes with PCP mutants including open eyelids, neural tube defects and disrupted cochlear stereociliary bundles. Furthermore, we identify genetic interactions between BBS genes and a PCP gene in both mouse (Ltap, also called Vangl2) and zebrafish (vangl2). In zebrafish, the augmented phenotype results from enhanced defective convergent extension movements. We also show that Vangl2 localizes to the basal body and axoneme of ciliated cells, a pattern reminiscent of that of the BBS proteins. These data suggest that cilia are intrinsically involved in PCP processes.

  2. Comparative analysis of signature genes in porcine reproductive and respiratory syndrome virus (PRRSV)-infected porcine monocyte-derived dendritic cells at differential activation statuses

    Science.gov (United States)

    Activation statuses of monocytic cells, e.g. monocytes, macrophages and dendritic cells (DCs), are critically important for antiviral immunity. In particular, some devastating viruses, including porcine reproductive and respiratory syndrome virus (PRRSV), are capable of directly infecting these cell...

  3. β-Cell adaptation in a mouse model of glucocorticoid-induced metabolic syndrome.

    Science.gov (United States)

    Fransson, Liselotte; Franzén, Stephanie; Rosengren, Victoria; Wolbert, Petra; Sjöholm, Åke; Ortsäter, Henrik

    2013-12-01

    Glucocorticoids (GCs) are stress hormones primarily responsible for mobilizing glucose to the circulation. Due to this effect, insulin resistance and glucose intolerance are concerns in patients with endogenous overproduction of GCs and in patients prescribed GC-based therapy. In addition, hypercortisolemic conditions share many characteristics with the metabolic syndrome. This study reports on a thorough characterization, in terms of glucose control and lipid handling, of a mouse model where corticosterone is given via the drinking water. C57BL/6J mice were treated with corticosterone (100 or 25 μg/ml) or vehicle in their drinking water for 5 weeks after which they were subjected to insulin or glucose tolerance tests. GC-treated mice displayed increased food intake, body weight gain, and central fat deposit accumulations. In addition, the GC treatment led to dyslipidemia as well as accumulation of ectopic fat in the liver and skeletal muscle, having a substantial negative effect on insulin sensitivity. Also glucose intolerance and hypertension, both part of the metabolic syndrome, were evident in the GC-treated mice. However, the observed effects of corticosterone were reversed after drug removal. Furthermore, this study reveals insights into β-cell adaptation to the GC-induced insulin resistance. Increased pancreatic islet volume due to cell proliferation, increased insulin secretion capacity, and increased islet chaperone expression were found in GC-treated animals. This model mimics the human metabolic syndrome. It could be a valuable model for studying the complex mechanisms behind the development of the metabolic syndrome and type 2 diabetes, as well as the multifaceted relations between GC excess and disease.

  4. Crayfish hematopoietic tissue cells but not hemocytes are permissive for white spot syndrome virus replication.

    Science.gov (United States)

    Wu, Junjun; Li, Fang; Huang, Jiajun; Xu, Limei; Yang, Feng

    2015-03-01

    Hemocytes are the major immune cells of crustaceans which are believed to be essential for the pathogenesis of white spot syndrome virus (WSSV) infection. Crayfish hemocytes and hematopoietic tissue (HPT) cells have been found to be susceptible to WSSV infection, but the procedure of WSSV infection to both cell types has not yet been carefully investigated. In this study, we analyzed the infection and proliferation of WSSV in crayfish hemocytes as well as HPT cells in detail through transmission electronic microscopy (TEM). The results showed that WSSV could enter both hemocytes and HPT cells through endocytosis, but the production of progeny virus was only achieved in HPT cells. Further investigation demonstrated that although WSSV could transcribe its genes in both cell types, viral genome replication and structural protein expression were unsuccessful in hemocytes, which may be responsible for the failure of progeny production. Therefore, we propose that both hemocytes and HPT cells are susceptible to WSSV infection but only HPT cells are permissive to WSSV replication. These findings will extend our knowledge of the interaction between WSSV and the host immune system.

  5. Sequential fluctuating paraneoplastic ocular flutter-opsoclonus-myoclonus syndrome and Lambert-Eaton myasthenic syndrome in small-cell lung cancer.

    LENUS (Irish Health Repository)

    Simister, Robert J

    2011-03-01

    Paraneoplastic cerebellar degeneration may occur in association with Lambert-Eaton myasthenic syndrome (LEMS), but to our knowledge, the co-occurrence of paraneoplastic opsoclonus-myoclonus syndrome and LEMS has not been previously reported. A 67-year-old woman presented with a complex partial seizure and evolving ocular flutter, opsoclonus, myoclonus and \\'cerebellar\\' signs, all of which improved spontaneously within 6 weeks. Approximately 8 weeks after symptom onset, the patient became encephalopathic, she had a further complex partial seizure, and she became areflexic with potentiation of deep tendon reflexes. Radiological, bronchoscopic and histological investigations revealed small-cell lung cancer, and neurophysiological investigations confirmed a diagnosis of LEMS. High-titre anti-P\\/Q-type voltage-gated calcium-channel antibodies were identified in the serum, which increased as the signs of opsoclonus and myoclonus resolved. The encephalopathy and clinical features of LEMS responded dramatically to chemotherapy and radiotherapy. Spontaneous improvement of paraneoplastic opsoclonus-myoclonus syndrome may occur, and this syndrome may occur in association with LEMS. Antivoltage-gated calcium-channel antibodies are not implicated in the pathogenesis of paraneoplastic opsoclonus-myoclonus syndrome.

  6. Melanin index in assessing the treatment efficacy of 1064 nm Q switched Nd-Yag laser in nevus of Ota

    Directory of Open Access Journals (Sweden)

    Gomathy Sethuraman

    2013-01-01

    Full Text Available Background: Q-switched neodymium-yttrium aluminium-garnet (Q switched Nd-Yag laser has been used in the treatment of nevus of Ota in all skin types with variable success rate. Data with an objective assessment parameter to this laser treatment is lacking. Objective: To evaluate the utility of melanin index in assessing the treatment response and also determine the efficacy and safety of the Q-switched Nd-Yag laser (1064-nm in the treatment of nevus of Ota in Fitzpatrick skin types IV and V. Materials and Methods: A total of 35 patients treated with Nd-Yag laser were studied. The objective improvement (pigment clearance was determined by melanin index from two fixed points: A1, 2 cm below the pupil at the mid pupillary line (when the gaze is fixed; A2, the most prominent part of zygoma. The melanin index in these two areas was recorded as M1 and M2, respectively. The subjective clinical improvement was determined by the physician and the patient global assessment score. Results: The mean baseline melanin indices M1 and M2 were 59.54 ± 9.72 and 59.02 ± 9.16, respectively. At the last visit the mean M1 and M2 decreased to 53.8 ± 8.55 (P 50% pigment clearance. Conclusion: The melanin index, a simple non-invasive parameter is useful in assessing the treatment response more objectively. The 1064-nm Q-switched Nd-Yag laser offers good improvement in patients with nevus of Ota in darker skin types IV/V.

  7. Melanin Index in Assessing the Treatment Efficacy of 1064 nm Q Switched Nd-Yag Laser in Nevus of Ota

    Science.gov (United States)

    Sethuraman, Gomathy; Sharma, Vinod K; Sreenivas, Vishnubhatla

    2013-01-01

    Background: Q-switched neodymium-yttrium aluminium-garnet (Q switched Nd-Yag) laser has been used in the treatment of nevus of Ota in all skin types with variable success rate. Data with an objective assessment parameter to this laser treatment is lacking. Objective: To evaluate the utility of melanin index in assessing the treatment response and also determine the efficacy and safety of the Q-switched Nd-Yag laser (1064-nm) in the treatment of nevus of Ota in Fitzpatrick skin types IV and V. Materials and Methods: A total of 35 patients treated with Nd-Yag laser were studied. The objective improvement (pigment clearance) was determined by melanin index from two fixed points: A1, 2 cm below the pupil at the mid pupillary line (when the gaze is fixed); A2, the most prominent part of zygoma. The melanin index in these two areas was recorded as M1 and M2, respectively. The subjective clinical improvement was determined by the physician and the patient global assessment score. Results: The mean baseline melanin indices M1 and M2 were 59.54 ± 9.72 and 59.02 ± 9.16, respectively. At the last visit the mean M1 and M2 decreased to 53.8 ± 8.55 (P 50% pigment clearance. Conclusion: The melanin index, a simple non-invasive parameter is useful in assessing the treatment response more objectively. The 1064-nm Q-switched Nd-Yag laser offers good improvement in patients with nevus of Ota in darker skin types IV/V. PMID:24470713

  8. Sonic Hedgehog Produced by Bone Marrow-Derived Mesenchymal Stromal Cells Supports Cell Survival in Myelodysplastic Syndrome

    Directory of Open Access Journals (Sweden)

    Jixue Zou

    2015-01-01

    Full Text Available The role of marrow microenvironment in the pathogenesis of myelodysplastic syndrome (MDS remains controversial. Therefore, we studied the influence of bone marrow-derived mesenchymal stromal cells (BMSCs from patients with different risk types of MDS on the survival of the MDS cell lines SKM-1 and MUTZ-1. We first demonstrated that the expression of Sonic hedgehog (Shh, smoothened (Smo, and glioma-associated oncogene homolog 1 (Gli1 was increased in MDS patients n=23; the increase in expression was positively correlated with the presence of high-risk factors. The Shh signaling inhibitor, cyclopamine, inhibited high-risk MDS BMSC-induced survival of SKM-1 and MUTZ-1 cells, suggesting a role for Shh signaling in MDS cell survival. Furthermore, cyclopamine-mediated inhibition of Shh signaling in SKM-1 and MUTZ-1 cells resulted in decreased DNMT1 expression and cell survival; however, exogenous Shh peptide had the opposite effect, suggesting that Shh signaling could regulate the expression of DNMT1, thereby modulating cell survival in MDS. In addition, the apoptosis of SKM-1 and MUTZ-1 cell increased significantly when cultured with cyclopamine and a demethylation agent, 5-Aza-2′-deoxycytidine. These findings suggest that Shh signaling from BMSCs is important in the pathogenesis of MDS and could play a role in disease progression by modulating methylation.

  9. [Autoinflammatory syndrome].

    Science.gov (United States)

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.

  10. Pluripotent stem cells to model Hutchinson-Gilford progeria syndrome (HGPS): Current trends and future perspectives for drug discovery.

    Science.gov (United States)

    Lo Cicero, Alessandra; Nissan, Xavier

    2015-11-01

    Progeria, or Hutchinson-Gilford progeria syndrome (HGPS), is a rare, fatal genetic disease characterized by an appearance of accelerated aging in children. This syndrome is typically caused by mutations in codon 608 (p.G608G) of the LMNA, leading to the production of a mutated form of lamin A precursor called progerin. In HGPS, progerin accumulates in cells causing progressive molecular defects, including nuclear shape abnormalities, chromatin disorganization, damage to DNA and delays in cell proliferation. Here we report how, over the past five years, pluripotent stem cells have provided new insights into the study of HGPS and opened new original therapeutic perspectives to treat the disease.

  11. Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands.

    Directory of Open Access Journals (Sweden)

    Carlos Bueno

    Full Text Available Dysfunctions of MeCP2 protein lead to various neurological disorders such as Rett syndrome and Autism. The exact functions of MeCP2 protein is still far from clear. At a molecular level, there exist contradictory data. MeCP2 protein is considered a single immunoreactive band around 75 kDa by western-blot analysis but several reports have revealed the existence of multiple MeCP2 immunoreactive bands above and below the level where MeCP2 is expected. MeCP2 immunoreactive bands have been interpreted in different ways. Some researchers suggest that multiple MeCP2 immunoreactive bands are unidentified proteins that cross-react with the MeCP2 antibody or degradation product of MeCP2, while others suggest that MeCP2 post-transcriptional processing generates multiple molecular forms linked to cell signaling, but so far they have not been properly analyzed in relation to Rett syndrome experimental models. The purpose of this study is to advance understanding of multiple MeCP2 immunoreactive bands in control neural cells and p.T158M MeCP2e1 mutant cells. We have generated stable wild-type and p.T158M MeCP2e1-RFP mutant expressing cells. Application of N- and C- terminal MeCP2 antibodies, and also, RFP antibody minimized concerns about nonspecific cross-reactivity, since they react with the same antigen at different epitopes. We report the existence of multiple MeCP2 immunoreactive bands in control cells, stable wild-type and p.T158M MeCP2e1-RFP mutant expressing cells. Also, MeCP2 immunoreactive bands differences were found between wild-type and p.T158M MeCP2e1-RFP mutant expressing cells. Slower migration phosphorylated band around 70kDa disappeared in p.T158M MeCP2e1-RFP mutant expressing cells. These data suggest that threonine 158 could represent an important phosphorylation site potentially involved in protein function. Our results clearly indicate that MeCP2 antibodies have no cross-reactivity with similar epitopes on others proteins, supporting the

  12. Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands

    Science.gov (United States)

    Bueno, Carlos; Tabares-Seisdedos, Rafael; Moraleda, Jose M.; Martinez, Salvador

    2016-01-01

    Dysfunctions of MeCP2 protein lead to various neurological disorders such as Rett syndrome and Autism. The exact functions of MeCP2 protein is still far from clear. At a molecular level, there exist contradictory data. MeCP2 protein is considered a single immunoreactive band around 75 kDa by western-blot analysis but several reports have revealed the existence of multiple MeCP2 immunoreactive bands above and below the level where MeCP2 is expected. MeCP2 immunoreactive bands have been interpreted in different ways. Some researchers suggest that multiple MeCP2 immunoreactive bands are unidentified proteins that cross-react with the MeCP2 antibody or degradation product of MeCP2, while others suggest that MeCP2 post-transcriptional processing generates multiple molecular forms linked to cell signaling, but so far they have not been properly analyzed in relation to Rett syndrome experimental models. The purpose of this study is to advance understanding of multiple MeCP2 immunoreactive bands in control neural cells and p.T158M MeCP2e1 mutant cells. We have generated stable wild-type and p.T158M MeCP2e1-RFP mutant expressing cells. Application of N- and C- terminal MeCP2 antibodies, and also, RFP antibody minimized concerns about nonspecific cross-reactivity, since they react with the same antigen at different epitopes. We report the existence of multiple MeCP2 immunoreactive bands in control cells, stable wild-type and p.T158M MeCP2e1-RFP mutant expressing cells. Also, MeCP2 immunoreactive bands differences were found between wild-type and p.T158M MeCP2e1-RFP mutant expressing cells. Slower migration phosphorylated band around 70kDa disappeared in p.T158M MeCP2e1-RFP mutant expressing cells. These data suggest that threonine 158 could represent an important phosphorylation site potentially involved in protein function. Our results clearly indicate that MeCP2 antibodies have no cross-reactivity with similar epitopes on others proteins, supporting the idea that MeCP2 may

  13. Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands.

    Science.gov (United States)

    Bueno, Carlos; Tabares-Seisdedos, Rafael; Moraleda, Jose M; Martinez, Salvador

    2016-01-01

    Dysfunctions of MeCP2 protein lead to various neurological disorders such as Rett syndrome and Autism. The exact functions of MeCP2 protein is still far from clear. At a molecular level, there exist contradictory data. MeCP2 protein is considered a single immunoreactive band around 75 kDa by western-blot analysis but several reports have revealed the existence of multiple MeCP2 immunoreactive bands above and below the level where MeCP2 is expected. MeCP2 immunoreactive bands have been interpreted in different ways. Some researchers suggest that multiple MeCP2 immunoreactive bands are unidentified proteins that cross-react with the MeCP2 antibody or degradation product of MeCP2, while others suggest that MeCP2 post-transcriptional processing generates multiple molecular forms linked to cell signaling, but so far they have not been properly analyzed in relation to Rett syndrome experimental models. The purpose of this study is to advance understanding of multiple MeCP2 immunoreactive bands in control neural cells and p.T158M MeCP2e1 mutant cells. We have generated stable wild-type and p.T158M MeCP2e1-RFP mutant expressing cells. Application of N- and C- terminal MeCP2 antibodies, and also, RFP antibody minimized concerns about nonspecific cross-reactivity, since they react with the same antigen at different epitopes. We report the existence of multiple MeCP2 immunoreactive bands in control cells, stable wild-type and p.T158M MeCP2e1-RFP mutant expressing cells. Also, MeCP2 immunoreactive bands differences were found between wild-type and p.T158M MeCP2e1-RFP mutant expressing cells. Slower migration phosphorylated band around 70kDa disappeared in p.T158M MeCP2e1-RFP mutant expressing cells. These data suggest that threonine 158 could represent an important phosphorylation site potentially involved in protein function. Our results clearly indicate that MeCP2 antibodies have no cross-reactivity with similar epitopes on others proteins, supporting the idea that MeCP2 may

  14. The mast cell stabiliser ketotifen decreases visceral hypersensitivity and improves intestinal symptoms in patients with irritable bowel syndrome

    NARCIS (Netherlands)

    Klooker, Tamira K.; Braak, Breg; Koopman, Karin E.; Welting, Olaf; Wouters, Mira M.; van der Heide, Sicco; Schemann, Michael; Bischoff, Stephan C.; van den Wijngaard, Rene M.; Boeckxstaens, Guy E.

    2010-01-01

    Background Mast cell activation is thought to be involved in visceral hypersensitivity, one of the main characteristics of the irritable bowel syndrome (IBS). A study was therefore undertaken to investigate the effect of the mast cell stabiliser ketotifen on rectal sensitivity and symptoms in patien

  15. A Case of High-grade Transitional Cell Carcinoma of the Bladder in a Pediatric Patient With Turner Syndrome.

    Science.gov (United States)

    Aguiar, Liza; Danialan, Richard; Kim, Christina

    2015-06-01

    Transitional cell carcinoma is a rare entity in children, especially in the first decade of life. The majority of these tumors are of low grade and noninvasive. We report an interesting case of a high-grade superficial transitional cell carcinoma in a 3-year-old girl with Turner syndrome.

  16. Asthma is a risk factor for acute chest syndrome and cerebral vascular accidents in children with sickle cell disease

    Directory of Open Access Journals (Sweden)

    Scott Paul J

    2005-01-01

    Full Text Available Abstract Background Asthma and sickle cell disease are common conditions that both may result in pulmonary complications. We hypothesized that children with sickle cell disease with concomitant asthma have an increased incidence of vaso-occlusive crises that are complicated by episodes of acute chest syndrome. Methods A 5-year retrospective chart analysis was performed investigating 48 children ages 3–18 years with asthma and sickle cell disease and 48 children with sickle cell disease alone. Children were matched for age, gender, and type of sickle cell defect. Hospital admissions were recorded for acute chest syndrome, cerebral vascular accident, vaso-occlusive pain crises, and blood transfusions (total, exchange and chronic. Mann-Whitney test and Chi square analysis were used to assess differences between the groups. Results Children with sickle cell disease and asthma had significantly more episodes of acute chest syndrome (p = 0.03 and cerebral vascular accidents (p = 0.05 compared to children with sickle cell disease without asthma. As expected, these children received more total blood transfusions (p = 0.01 and chronic transfusions (p = 0.04. Admissions for vasoocclusive pain crises and exchange transfusions were not statistically different between cases and controls. SS disease is more severe than SC disease. Conclusions Children with concomitant asthma and sickle cell disease have increased episodes of acute chest syndrome, cerebral vascular accidents and the need for blood transfusions. Whether aggressive asthma therapy can reduce these complications in this subset of children is unknown and requires further studies.

  17. White spot syndrome virus enters crayfish hematopoietic tissue cells via clathrin-mediated endocytosis.

    Science.gov (United States)

    Huang, Jiajun; Li, Fang; Wu, Junjun; Yang, Feng

    2015-12-01

    White spot syndrome virus (WSSV) is a major pathogen of aquacultured shrimp. However, the mechanism of its entry remains poorly understood. In this study, by analyzing the internalization of WSSV using crayfish hematopoietic tissue (HPT) cells, we showed that WSSV virions were engulfed by cell membrane invaginations sharing the features of clathrin-coated pits and then internalized into coated cytoplasmic vesicles. Further investigation indicated that WSSV internalization was significantly inhibited by chlorpromazine (CPZ) but not genistein. The internalized virions were colocalized with endogenous clathrin as well as transferrin which undergoes clathrin-dependent uptake. Preventing endosome acidification by ammonium chloride (NH4Cl) or chloroquine (CQ) dramatically reduced WSSV entry as well. Moreover, disturbance of dynamin activity or depletion of membrane cholesterol also blocked WSSV uptake. These data indicate that WSSV enters crayfish HPT cells via clathrin-mediated endocytosis in a pH-dependent manner, and membrane cholesterol as well as dynamin is critical for efficient viral entry.

  18. Oral features and dental health in Hurler Syndrome following hematopoietic stem cell transplantation.

    LENUS (Irish Health Repository)

    McGovern, Eleanor

    2012-02-01

    BACKGROUND: Hurler Syndrome is associated with a deficiency of a specific lysosomal enzyme involved in the degradation of glycosaminoglycans. Hematopoietic stem cell transplantation (HSCT) in early infancy is undertaken to help prevent the accumulation of glycosaminoglycans and improve organ function. AIM: To investigate the oral features and dental health of patients with Hurler Syndrome who have undergone successful HSCT. MATERIALS AND METHODS: Twenty-five patients (median age 8.6 years) post-HSCT (mean age 9.4 months) underwent oral assessment (mean of 7.5 years post-HSCT). RESULTS: Dental development was delayed. Numerous occlusal anomalies were noted including: open-bite, class III skeletal base, dental spacing, primary molar infra-occlusion and ectopic tooth eruption. Dental anomalies included hypodontia, microdontia, enamel defects, thin tapering canine crowns, pointed molar cusps, bulbous molar crowns and molar taurodontism. Tooth roots were usually short\\/blunted\\/spindle-like in permanent molars. The prevalence of dental caries was low in the permanent dentition (mean DMFT 0.7) but high in the primary dentition (mean dmft 2.4). Oral hygiene instruction with plaque and or calculus removal was indicated in 71% of those that were dentate. CONCLUSION: Patients with Hurler Syndrome post-HSCT are likely to have delayed dental development, a malocclusion, and dental anomalies, particularly hypodontia and microdontia.

  19. Insulinoma Presenting with Long-Standing Depression, Primary Hypogonadism, and Sertoli Cell Only Syndrome

    Directory of Open Access Journals (Sweden)

    Usman H. Malabu

    2013-01-01

    Full Text Available The aim was to report an unusual case of insulinoma presenting with long-standing depression and primary testicular failure. We describe a 34-year-old male with clinical, laboratory, and radiologic data consistent with islet cell tumor and seminiferous tubule failure primary hypogonadism. The literature is reviewed relative to the component of this syndrome, and a possible association is discussed. The subject was investigated for a long-standing history of depression requiring medical attention because of mental confusion and slurred speech and was found to have an insulinoma. He was diagnosed with primary gonadal failure and physical examination showed no evidence of dysmorphic features. Chromosomal analysis revealed normal 46 XY and testicular biopsy showed Sertoli cell only syndrome (SCOS. Biochemistry revealed endogenous hyperinsulinism and histology confirmed an islet cell tumor. He remained euglycemic postoperatively and on followup. From this report, we emphasize drawing clinicians' attention to the possibility of an association between insulinoma and primary testicular failure and suggest consideration of this diagnosis in patients with hypergonadotropic hypogonadism who may present with infertility.

  20. Identification of Polycystic Ovary Syndrome (PCOS) Specific Genes in Cumulus and Mural Granulosa Cells

    Science.gov (United States)

    Aydos, Alp; Gurel, Aykut; Oztemur Islakoglu, Yasemin; Noyan, Senem; Gokce, Bagdagul; Ecemis, Tolga; Kaya, Cemil; Aksu, Arif Tarik

    2016-01-01

    Polycystic ovary syndrome (PCOS) is a metabolic and endocrine disorder which affects women of reproductive age with prevalence of 8–18%. The oocyte within the follicle is surrounded by cumulus cells (CCs), which connect with mural granulosa cells (MGCs) that are responsible for secreting steroid hormones. The main aim of this study is comparing gene expression profiles of MGCs and CCs in PCOS and control samples to identify PCOS-specific differentially expressed genes (DEGs). In this study, two microarray databases were searched for mRNA expression microarray studies performed with CCs and MGCs obtained from PCOS patients and control samples. Three independent studies were selected to be integrated with naive meta-analysis since raw meta-data from these studies were found to be highly correlated. DEGs in these somatic cells were identified for PCOS and control groups. This study enabled us to reveal dysregulation in MAPK (mitogen activated protein kinase), insulin and Wnt signaling pathways between CCs and MGCs in PCOS. The meta-analysis results together with qRT-PCR validations provide evidence that molecular signaling is dysregulated through MGCs and CCs in PCOS, which is important for follicle and oocyte maturation and may contribute to the pathogenesis of the syndrome. PMID:27997581

  1. The relationship between subclinic atherosclerosis and red cell distribution width in patients with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Ali Rıza Gülcan

    2013-12-01

    Full Text Available Objectıve: We have investigated the possible associationbetween red cell distribution width (RDW and subclinicatherosclerosis which can assessed by carotidintima-media thickness (CIMT measurement in patientswith metabolic syndrome (MetS.Methods: 74 patients with MetS were enrolled to thestudy. Patients were divided into 2 groups according tocarotid intima-media thickness (CIMT measurement: 35patients with CIMT≥1.0 mm were at group 1 and 39 patientswith CIMT<1.0 mm were at group 2. RDW weremeasured using an automated blood cell counter.Results: The RDW level was not statistically significantin patients with CIMT≥1,0 mm than in patients withCIMT<1,0 mm (13.73±0.79% vs. 13.77±1.04 %; p=0.85.Conclusion: In our study, we found that RDW was notdifferent in the MetS patients with CIMT≥1.0 mm comparedwith the MetS patients with CIMT<1.0 mm.Key words: red cell distribution width, metabolic syndrome,complete blood count

  2. DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress.

    Directory of Open Access Journals (Sweden)

    Harald Krenzlin

    Full Text Available Nijmegen Breakage Syndrome (NBS, an autosomal recessive genetic instability syndrome, is caused by hypomorphic mutation of the NBN gene, which codes for the protein nibrin. Nibrin is an integral member of the MRE11/RAD50/NBN (MRN complex essential for processing DNA double-strand breaks. Cardinal features of NBS are immunodeficiency and an extremely high incidence of hematological malignancies. Recent studies in conditional null mutant mice have indicated disturbances in redox homeostasis due to impaired DSB processing. Clearly this could contribute to DNA damage, chromosomal instability, and cancer occurrence. Here we show, in the complete absence of nibrin in null mutant mouse cells, high levels of reactive oxygen species several hours after exposure to a mutagen. We show further that NBS patient cells, which unlike mouse null mutant cells have a truncated nibrin protein, also have high levels of reactive oxygen after DNA damage and that this increased oxidative stress is caused by depletion of NAD+ due to hyperactivation of the strand-break sensor, Poly(ADP-ribose polymerase. Both hyperactivation of Poly(ADP-ribose polymerase and increased ROS levels were reversed by use of a specific Poly(ADP-ribose polymerase inhibitor. The extremely high incidence of malignancy among NBS patients is the result of the combination of a primary DSB repair deficiency with secondary oxidative DNA damage.

  3. Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

    Directory of Open Access Journals (Sweden)

    Camargo Anamaria A

    2009-12-01

    Full Text Available Abstract Background Treacher Collins syndrome (TCS is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene. These mutations cause premature termination codons, which are predicted to lead to mRNA degradation by nonsense mediated mRNA decay (NMD. Haploinsufficiency of the gene product (treacle during embryonic development is the proposed molecular mechanism underlying TCS. However, it is still unknown if TCOF1 expression levels are decreased in post-embryonic human cells. Methods We have estimated TCOF1 transcript levels through real time PCR in mRNA obtained from leucocytes and mesenchymal cells of TCS patients (n = 23 and controls (n = 18. Mutational screening and analysis of NMD were performed by direct sequencing of gDNA and cDNA, respectively. Results All the 23 patients had typical clinical features of the syndrome and pathogenic mutations were detected in 19 of them. We demonstrated that the expression level of TCOF1 is 18-31% lower in patients than in controls (p , even if we exclude the patients in whom we did not detect the pathogenic mutation. We also observed that the mutant allele is usually less abundant than the wild type one in mesenchymal cells. Conclusions This is the first study to report decreased expression levels of TCOF1 in TCS adult human cells, but it is still unknown if this finding is associated to any phenotype in adulthood. In addition, as we demonstrated that alleles harboring the pathogenic mutations have lower expression, we herein corroborate the current hypothesis of NMD of the mutant transcript as the explanation for diminished levels of TCOF1 expression. Further, considering that TCOF1 deficiency in adult cells could be associated to pathologic clinical findings, it will be important to verify if TCS patients have an impairment in adult stem cell properties, as this can reduce the efficiency of plastic surgery results during rehabilitation of these

  4. Sorafenib-induced hand-foot syndrome in a patient of renal cell carcinoma

    Directory of Open Access Journals (Sweden)

    Amrita Sil

    2014-01-01

    Full Text Available Sorafenib, a multikinase inhibitor, is approved for treatment of renal cell cancer and hepatocellular cancer. Hand-foot syndrome (HFD is a condition where erythema, scaling, and bullous lesion affect the hand and feet. In this case, a post-nephrectomy renal carcinoma patient prescribed sorafenib developed HFD 1 week after the drug usage. All laboratory parameters were within normal limits. The dose of sorafenib was reduced and topical corticosteroids, antihistamines, and emollients were prescribed. The reaction reduced after 2 weeks of therapy, only to reappear again when the second cycle of sorafenib-targeted therapy was started. The case was diagnosed as sorafenib-induced HFD.

  5. [Intra-Abdominal Germ Cell Tumor in Persistent Mullerian Duct Syndrome].

    Science.gov (United States)

    Mishima, Takao; Harada, Jiro; Kawa, Gen; Sakurai, Takanori; Okada, Takuya

    2016-08-01

    A 46-year-old man was admitted to hospital presenting with a lower abdominal mass. The patient's testes were not palpable in the scrotum, and the levels of lactic dehydrogenase, α-fetoprotein and human chorionic gonadotropin were all elevated. Enhanced computed tomography revealed that the lumen of the mass had penetrated the prostate. Pathological analysis of biopsy tissue indicated that the mass was a seminoma. Residual tumor resection was performed after chemotherapy. On histological examination, the lumen proved to be a Mullerian structure. Our diagnosis was an intra-abdominal germ cell tumor and persistent Mullerian duct syndrome.

  6. Giant Cell Arteritis in a 12-Year-Old Girl Presenting with Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Zeinab A. El-Sayed

    2014-01-01

    Full Text Available Giant cell arteritis (GCA is rare in children. The kidneys are generally spared. We present a case of GCA in a 12-year-old girl with severe headache and tender scalp especially over the right temporal area. The right superficial temporal artery was cord like and nodular and the pulsations were barely felt. Several small tender nodular swellings were felt in the occipital area. She had been previously diagnosed as a case of nephrotic syndrome due to underlying membranoproliferative glomerulonephritis. This report is aimed at drawing attention to this rare form of vasculitis in children aiming at decreasing its morbidities.

  7. Systemic Capillary Leak Syndrome as an Initial Presentation of ALK-Negative Anaplastic Large Cell Lymphoma

    Directory of Open Access Journals (Sweden)

    Laura S. Lourdes

    2012-01-01

    Full Text Available Systemic capillary leak syndrome (SCLS is a rare disease characterized by third spacing of plasma into the extravascular compartment, leading to anasarca, hemoconcentration, and hypovolemic shock. It has been rarely associated with lymphomas, and reports usually indicate that it occurs after antineoplastic treatment. We present the case of a patient with ALK-negative anaplastic large cell lymphoma who presented with SCLS as the initial manifestation of her lymphoma. The SCLS resolved with treatment of the malignancy with steroids and chemotherapy.

  8. Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.

    Science.gov (United States)

    Yasar, Binnaz; Byers, Helen J; Smith, Miriam J; Lear, John; Oudit, Deemesh; Bholah, Zaynab; Roberts, Stephen A; Newman, William G; Evans, D Gareth

    2015-05-01

    Gorlin syndrome is an autosomal dominant disorder, characterized by multiple early-onset basal cell carcinomas (BCCs) and jaw keratocysts. Through association studies in cohorts of sporadic BCC, nine genetic variants have previously been identified to increase the risk of BCC. The nine SNPs were genotyped by Taqman allelic discrimination in 125 individuals with Gorlin syndrome. Kaplan-Meier survival curves and Cox proportional-Hazard regression analysis were applied to determine the association between genotypes and age of first BCC in individuals with Gorlin syndrome. The p.(Arg151Cys) variant in MC1R (rs1805007) was associated with an earlier median age of onset of BCC of 27 years (95% CI: 20-34) compared with 34 years (95% CI: 30-40) for wild-type individuals (hazard ratio (HR)=1.64, 95% CI: 1.04-2.58, P=0.034). The risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CLPTM1L (rs401681) was also associated with an earlier median onset of BCC, 31 years (95% CI: 28-37) compared with 41 years (95% CI: 32-48, HR=1.44, 95% CI: 1.08-1.93, P=0.014). In individuals with a risk allele at either rs1805007 or rs401681 the median time to BCC was 31 years of age (95% CI: 28-34) compared with 44 years of age (95% CI: 38-53) in wild-type individuals (HR=2.48, 95% CI: 1.47-4.17, P=0.0002). Our findings may have implications for future personalized risk estimates and BCC screening strategies in individuals with Gorlin syndrome.

  9. Defective CFTR-regulated granulosa cell proliferation in polycystic ovarian syndrome.

    Science.gov (United States)

    Chen, Hui; Guo, Jing Hui; Zhang, Xiao Hu; Chan, Hsiao Chang

    2015-05-01

    Polycystic ovarian syndrome (PCOS) is one of the most frequent causes of female infertility, featured by abnormal hormone profile, chronic oligo/anovulation, and presence of multiple cystic follicles in the ovary. However, the mechanism underlying the abnormal folliculogenesis remains obscure. We have previously demonstrated that CFTR, a cAMP-dependent Cl(-) and HCO3 (-) conducting anion channel, is expressed in the granulosa cells and its expression is downregulated in PCOS rat models and human patients. In this study, we aimed to investigate the possible involvement of downregulation of CFTR in the impaired follicle development in PCOS using two rat PCOS models and primary culture of granulosa cells. Our results indicated that the downregulation of CFTR in the cystic follicles was accompanied by reduced expression of proliferating cell nuclear antigen (PCNA), in rat PCOS models. In addition, knockdown or inhibition of CFTR in granulosa cell culture resulted in reduced cell viability and downregulation of PCNA. We further demonstrated that CFTR regulated both basal and FSH-stimulated granulosa cell proliferation through the HCO3 (-)/sAC/PKA pathway leading to ERK phosphorylation and its downstream target cyclin D2 (Ccnd2) upregulation. Reduced ERK phosphorylation and CCND2 were found in ovaries of rat PCOS model compared with the control. This study suggests that CFTR is required for normal follicle development and that its downregulation in PCOS may inhibit granulosa cell proliferation, resulting in abnormal follicle development in PCOS.

  10. Association of mast cell-derived VEGF and proteases in Dengue shock syndrome.

    Directory of Open Access Journals (Sweden)

    Takahisa Furuta

    Full Text Available BACKGROUND: Recent in-vitro studies have suggested that mast cells are involved in Dengue virus infection. To clarify the role of mast cells in the development of clinical Dengue fever, we compared the plasma levels of several mast cell-derived mediators (vascular endothelial cell growth factor [VEGF], soluble VEGF receptors [sVEGFRs], tryptase, and chymase and -related cytokines (IL-4, -9, and -17 between patients with differing severity of Dengue fever and healthy controls. METHODOLOGY/PRINCIPAL FINDINGS: The study was performed at Children's Hospital No. 2, Ho Chi Minh City, and Vinh Long Province Hospital, Vietnam from 2002 to 2005. Study patients included 103 with Dengue fever (DF, Dengue hemorrhagic fever (DHF, and Dengue shock syndrome (DSS, as diagnosed by the World Health Organization criteria. There were 189 healthy subjects, and 19 febrile illness patients of the same Kinh ethnicity. The levels of mast cell-derived mediators and -related cytokines in plasma were measured by ELISA. VEGF and sVEGFR-1 levels were significantly increased in DHF and DSS compared with those of DF and controls, whereas sVEGFR-2 levels were significantly decreased in DHF and DSS. Significant increases in tryptase and chymase levels, which were accompanied by high IL-9 and -17 concentrations, were detected in DHF and DSS patients. By day 4 of admission, VEGF, sVEGFRs, and proteases levels had returned to similar levels as DF and controls. In-vitro VEGF production by mast cells was examined in KU812 and HMC-1 cells, and was found to be highest when the cells were inoculated with Dengue virus and human Dengue virus-immune serum in the presence of IL-9. CONCLUSIONS: As mast cells are an important source of VEGF, tryptase, and chymase, our findings suggest that mast cell activation and mast cell-derived mediators participate in the development of DHF. The two proteases, particularly chymase, might serve as good predictive markers of Dengue disease severity.

  11. A Retrospective Study on the Characteristics of Treating Nevus of Ota by 1064-nm Q-switched Neodymium-doped Yttrium Aluminum Garnet Laser

    Science.gov (United States)

    Liu, Yanting; Zeng, Weihui; Geng, Songmei

    2016-01-01

    Background: The Q-switched neodymium-doped yttrium aluminum garnet (QS Nd:YAG) laser has a significant effect in treating nevus of Ota, but there is lack of a retrospective study about the characteristics of efficacy. Aims and Objectives: To retrospectively analyze the correlation between the clinical characteristics and efficacy, complications, recurrence of QS Nd:YAG laser in treating nevus of Ota. Materials and Methods: One hundred and seventy-one Chinese patients (144 female, 27 male) of nevus of Ota were treated with the 1064-nm QS Nd:YAG laser. All cases were treated with fluencies of 4–8 J/cm2 and a spot size of 2–4 mm. Clinical photographs were taken before every treatment and patients were followed up by their clinicians. Results: One hundred and forty-five patients (84.8%) acquired more than 75% improvement with an average of 4.6 sessions. The treatment effect has no significant correlation with sex (P > 0.05). The blue-black and brown lesions improved more than the light-brown (P nevus of Ota. The efficacy correlated with lesion color, which is meaningful to estimate the prognosis. PMID:27293272

  12. A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

    Science.gov (United States)

    Munaro, M; Tiranti, V; Sandonà, D; Lamantea, E; Uziel, G; Bisson, R; Zeviani, M

    1997-02-01

    A generalized defect of complex IV (cytochrome C oxidase, COX) is frequently found in subacute necrotizing encephalomyelopathy (Leigh's syndrome), the most common mitochondrial disorder in infancy. We previously demonstrated the nuclear origin of the COX defect in one case, by fusing nuclear DNA-less cytoplasts derived from normal fibroblasts with mitochondrial DNA (mtDNA)-less transformant fibroblasts derived from a patient with COX-defective [COX(-)] Leigh's syndrome. The resulting cybrid line showed a specific and serve COX(-) phenotype. Conversely, in the present study, we demonstrated that a COX(+) phenotype could be restored in hybrids obtained by fusing COX(-) transformant fibroblasts of seven additional Leigh's syndrome patients with mtDNA-less, COX(-) tumor-derived rho degree cells. Both these results are explained by the presence of a mutation in a nuclear gene. In a second set of experiments, in order to demonstrate whether COX(-) Leigh's syndrome is due to a defect in the same gene, or in different genes, we tested several hybrids derived by fusing our original COX(-) cell line with each of the remaining seven cell lines. COX activity was evaluated in situ by histochemical techniques and in cell extracts by a spectrophotometric assay. No COX complementers were found among the resulting hybrid lines. This result demonstrates that all our cases were genetically homogeneous, and suggests that a major nuclear disease locus is associated with several, perhaps most, of the cases of infantile COX(-) Leigh's syndrome. This information should make it easier to identify the gene responsible.

  13. Importance of molecular cell biology investigations in human medicine in the story of the Hutchinson-Gilford progeria syndrome.

    Science.gov (United States)

    Raška, Ivan

    2010-09-01

    Ranged among laminopathies, Hutchinson-Gilford progeria syndrome is a syndrome that involves premature aging, leading usually to death at the age between 10 to 14 years predominatly due to a myocardial infarction or a stroke. In the lecture I shall overview the importance of molecular cell biology investigations that led to the discovery of the basic mechanism standing behind this rare syndrome. The genetic basis in most cases is a mutation at the nucleotide position 1824 of the lamin A gene. At this position, cytosine is substituted for thymine so that a cryptic splice site within the precursor mRNA for lamin A is generated. This results in a production of abnormal lamin A, termed progerin, its presence in cells having a deleterious dominant effect. Depending on the cell type and tissue, progerin induces a pleiotropy of defects that vary in different tissues. The present endeavour how to challenge this terrible disease will be also mentioned.

  14. Aging stem cells. A Werner syndrome stem cell model unveils heterochromatin alterations as a driver of human aging.

    Science.gov (United States)

    Zhang, Weiqi; Li, Jingyi; Suzuki, Keiichiro; Qu, Jing; Wang, Ping; Zhou, Junzhi; Liu, Xiaomeng; Ren, Ruotong; Xu, Xiuling; Ocampo, Alejandro; Yuan, Tingting; Yang, Jiping; Li, Ying; Shi, Liang; Guan, Dee; Pan, Huize; Duan, Shunlei; Ding, Zhichao; Li, Mo; Yi, Fei; Bai, Ruijun; Wang, Yayu; Chen, Chang; Yang, Fuquan; Li, Xiaoyu; Wang, Zimei; Aizawa, Emi; Goebl, April; Soligalla, Rupa Devi; Reddy, Pradeep; Esteban, Concepcion Rodriguez; Tang, Fuchou; Liu, Guang-Hui; Belmonte, Juan Carlos Izpisua

    2015-06-05

    Werner syndrome (WS) is a premature aging disorder caused by WRN protein deficiency. Here, we report on the generation of a human WS model in human embryonic stem cells (ESCs). Differentiation of WRN-null ESCs to mesenchymal stem cells (MSCs) recapitulates features of premature cellular aging, a global loss of H3K9me3, and changes in heterochromatin architecture. We show that WRN associates with heterochromatin proteins SUV39H1 and HP1α and nuclear lamina-heterochromatin anchoring protein LAP2β. Targeted knock-in of catalytically inactive SUV39H1 in wild-type MSCs recapitulates accelerated cellular senescence, resembling WRN-deficient MSCs. Moreover, decrease in WRN and heterochromatin marks are detected in MSCs from older individuals. Our observations uncover a role for WRN in maintaining heterochromatin stability and highlight heterochromatin disorganization as a potential determinant of human aging.

  15. Nevo de Spitz: relato de caso e dermatoscopia Spitz nevus: a case report and the use of dermoscopy

    Directory of Open Access Journals (Sweden)

    Ana Maria Costa Pinheiro

    2010-08-01

    Full Text Available O nevo de Spitz é uma lesão melanocítica benigna com características clínicas e histopatológicas semelhantes às do melanoma. Foi descrito em 1948, mas até hoje, ainda, existe grande controvérsia no seu diagnóstico e conduta. A utilização da dermatoscopia pode aumentar a sua acurácia diagnóstica. As características dermatoscópicas do nevo de Spitz incluem um padrão estelar (starburst, que é o mais frequente, seguido do padrão globular e do padrão atípico. O diagnóstico deve ser confirmado por exame histopatológico, principalmente, nos casos atípicos.The Spitz nevus is a benign melanocytic lesion with clinical and histopathological features similar to those of melanoma. It was first described in 1948 but great controversy still remains today with respect to its diagnosis and management. The use of dermoscopy may increase diagnostic accuracy. In Spitz nevus, the most common dermoscopic finding is a starburst-like pattern, followed by globular and atypical patterns. Diagnosis must be confirmed by histopathology, particularly in atypical cases.

  16. Animal-type malignant melanoma associated with nevus of Ota in the orbit of a Japanese woman: a case report.

    Science.gov (United States)

    Nitta, Keisuke; Kashima, Tomoyuki; Mayuzumi, Hideyasu; Akiyama, Hideo; Miyanaga, Tomomi; Hirato, Junko; Kishi, Shoji

    2014-06-01

    We present a patient with an animal-type malignant melanoma associated with the nevus of Ota in the orbit who showed a good prognosis after a combination of orbital extirpation, chemotherapy, stereotactic radiotherapy, and gamma knife. A 42-year-old Japanese woman presented with two tumors, one pathologically diagnosed as right-sided intraconal animal-type malignant melanoma and the other intracranially, presumed to be of the same pathogenesis and both were considered to have arisen from the nevus of Ota. She underwent an extirpation of the orbit, chemotherapy (DAV therapy, which is a combination of dacarbazine, nimustine, and vincristine), stereotactic radiotherapy (54 Gy in 27 fractions), and gamma knife (marginal dose was 17 Gy, target volume was 0.2 ml). She has been alive for 33 months since the extirpation, with no sign of local recurrence, new metastasis, nor enlargement of the intracranial tumor. Not just combination therapy but also the low malignancy of animal-type melanoma may have contributed toward the good prognosis.

  17. Clinical analysis of 243 eases of nevus of Ota%243例太田痣临床分析

    Institute of Scientific and Technical Information of China (English)

    李林; 张丽; 谭志建

    2009-01-01

    regnancy. Conclusions Nevus of Ota may be a hereditary disease, and patients with pigmentary disorders are more likely to have descendants with nevus of Ota.%目的 对湖北及周边地区太田痣患者进行临床分析.方法 回顾分析243例太田痣患者在发病时间、色素性疾病家族史及患者母亲妊娠期间是否有用药史等方面进行统计学比较.结果 太田痣出生时发病者占58.0%,出生后发病者占42.0%,主要集中于5~15岁.有色素性疾病家族史者占60.1%,其中以雀斑和咖啡斑为主.患有太田痣与女性妊娠期间是否有用药史无明显关系.结论 太田痣可能具有遗传性,具有色素性疾病史的患者,其后代患太田痣的可能性较大.

  18. Intermediate-grade meningeal melanocytoma associated with nevus of Ota: a case report and review of the literature.

    Science.gov (United States)

    Shin, Donghoon; Sinha, Milind; Kondziolka, Douglas S; Kirkwood, John M; Rao, Uma N M; Tarhini, Ahmad A

    2015-08-01

    Meningeal melanocytomas are rare melanin-producing tumors that are often found to be benign. However, a small subset of these tumors can present as intermediate-grade melanocytomas (IGMs) that have histopathological features that are between those of benign melanocytomas and malignant melanomas. IGMs have the potential to recur and metastasize or progress to a more histologically high grade melanoma. Melanocytomas appear to differ from primary and metastatic melanoma by their prolonged clinical course and they appear to have different driver mutations (i.e. mutation of GNAQ gene). The association of a meningeal melanocytoma with nevus of Ota is extremely rare. To our knowledge, there have been only 10 reported cases of synchronous occurrence and only one of the cases involved an IGM. We report the second case of intermediate-grade meningeal melanocytoma that is associated with congenital nevus of Ota. Histopathological work-up confirmed the intermediate grade of the lesion and a driver GNAQ mutation was identified consistent with previous reports.

  19. Endothelial Progenitor Cell Dysfunction in Myelodysplastic Syndromes: Possible Contribution of a Defective Vascular Niche to Myelodysplasia

    Directory of Open Access Journals (Sweden)

    Luciana Teofili

    2015-05-01

    Full Text Available We set a model to replicate the vascular bone marrow niche by using endothelial colony forming cells (ECFCs, and we used it to explore the vascular niche function in patients with low-risk myelodysplastic syndromes (MDS. Overall, we investigated 56 patients and we observed higher levels of ECFCs in MDS than in healthy controls; moreover, MDS ECFCs were found variably hypermethylated for p15INK4b DAPK1, CDH1, or SOCS1. MDS ECFCs exhibited a marked adhesive capacity to normal mononuclear cells. When normal CD34+ cells were co-cultured with MDS ECFCs, they generated significant lower amounts of CD11b+ and CD41+ cells than in co-culture with normal ECFCs. At gene expression profile, several genes involved in cell adhesion were upregulated in MDS ECFCs, while several members of the Wingless and int (Wnt pathways were underexpressed. Furthermore, at miRNA expression profile, MDS ECFCs hypo-expressed various miRNAs involved in Wnt pathway regulation. The addition of Wnt3A reduced the expression of intercellular cell adhesion molecule-1 on MDS ECFCs and restored the defective expression of markers of differentiation. Overall, our data demonstrate that in low-risk MDS, ECFCs exhibit various primary abnormalities, including putative MDS signatures, and suggest the possible contribution of the vascular niche dysfunction to myelodysplasia.

  20. Age-Dependent Defects of Regulatory B Cells in Wiskott-Aldrich Syndrome Gene Knockout Mice.

    Directory of Open Access Journals (Sweden)

    Tadafumi Yokoyama

    Full Text Available The Wiskott-Aldrich syndrome (WAS is a rare X-linked primary immunodeficiency characterized by recurrent infections, thrombocytopenia, eczema, and high incidence of malignancy and autoimmunity. The cellular mechanisms underlying autoimmune complications in WAS have been extensively studied; however, they remain incompletely defined. We investigated the characteristics of IL-10-producing CD19+CD1dhighCD5+ B cells (CD1dhighCD5+ Breg obtained from Was gene knockout (WKO mice and found that their numbers were significantly lower in these mice compared to wild type (WT controls. Moreover, we found a significant age-dependent reduction of the percentage of IL-10-expressing cells in WKO CD1dhighCD5+ Breg cells as compared to age-matched WT control mice. CD1dhighCD5+ Breg cells from older WKO mice did not suppress the in vitro production of inflammatory cytokines from activated CD4+ T cells. Interestingly, CD1dhighCD5+ Breg cells from older WKO mice displayed a basal activated phenotype which may prevent normal cellular responses, among which is the expression of IL-10. These defects may contribute to the susceptibility to autoimmunity with age in patients with WAS.

  1. Reduced synaptic activity in neuronal networks derived from embryonic stem cells of murine Rett syndrome model.

    Science.gov (United States)

    Barth, Lydia; Sütterlin, Rosmarie; Nenniger, Markus; Vogt, Kaspar E

    2014-01-01

    Neurodevelopmental diseases such as the Rett syndrome (RTT) have received renewed attention, since the mechanisms involved may underlie a broad range of neuropsychiatric disorders such as schizophrenia and autism. In vertebrates early stages in the functional development of neurons and neuronal networks are difficult to study. Embryonic stem cell-derived neurons provide an easily accessible tool to investigate neuronal differentiation and early network formation. We used in vitro cultures of neurons derived from murine embryonic stem cells missing the methyl-CpG-binding protein 2 (MECP2) gene (MeCP2-/y) and from wild type cells of the corresponding background. Cultures were assessed using whole-cell patch-clamp electrophysiology and immunofluorescence. We studied the functional maturation of developing neurons and the activity of the synaptic connections they formed. Neurons exhibited minor differences in the developmental patterns for their intrinsic parameters, such as resting membrane potential and excitability; with the MeCP2-/y cells showing a slightly accelerated development, with shorter action potential half-widths at early stages. There was no difference in the early phase of synapse development, but as the cultures matured, significant deficits became apparent, particularly for inhibitory synaptic activity. MeCP2-/y embryonic stem cell-derived neuronal cultures show clear developmental deficits that match phenotypes observed in slice preparations and thus provide a compelling tool to further investigate the mechanisms behind RTT pathophysiology.

  2. Acute chest syndrome of sickle cell disease: radiographic and clinical analysis of 70 cases

    Energy Technology Data Exchange (ETDEWEB)

    Martin, L. [Department of Radiology, Children`s Hospital, 300 Longwood Avenue, Boston, MA 02115 (United States); Buonomo, C. [Department of Radiology, Children`s Hospital, 300 Longwood Avenue, Boston, MA 02115 (United States)

    1997-08-01

    Background. Acute chest syndrome (ACS) is a pulmonary illness with fever, chest pain, leukocytosis and new pulmonary opacity in a patient with sickle cell disease. It is a common reason for hospitalization in sickle cell patients, and a significant cause of mortality. The etiology of ACS is unclear. Lung or bone infarction and infection, among other possible causes, have been proposed. Objective. We reviewed the chest radiographs and medical records of 41 patients with 70 episodes of ACS and correlated the clinical and radiographic courses in an attempt to better characterize and understand the syndrome. Results. In 87 % of episodes, no identifiable etiology of ACS was found. This group of patients had a median age of 14 years and showed dramatic clinical and radiographic improvement within 24 h of therapy. In the remainder of episodes (13 %), an identifiable etiology was found, usually bacterial pneumonia. These patients were younger than the group without an identifiable etiology (median age 2 years) and had a prolonged radiographic course of illness. Conclusion. The chest radiographs of children with ACS without an identifiable etiology have an extremely typical appearance and evolution. Only in cases which do not have this typical pattern should infection be suspected as the underlying cause. (orig.). With 3 figs.

  3. Usp16 contributes to somatic stem cell defects in Down syndrome

    Science.gov (United States)

    Adorno, Maddalena; Sikandar, Shaheen; Mitra, Siddhartha S.; Kuo, Angera; Di Robilant, Benedetta Nicolis; Haro-Acosta, Veronica; Ouadah, Youcef; Quarta, Marco; Rodriguez, Jacqueline; Qian, Dalong; Reddy, Vadiyala M.; Cheshier, Samuel; Garner, Craig C.; Clarke, Michael F.

    2013-01-01

    SUMMARY Down syndrome (DS) results from full or partial trisomy of chromosome 21. However, the consequences of the underlying gene-dosage imbalance on adult tissues remain poorly understood. Here we show that in Ts65Dn mice, trisomic for 132 genes homologous to HSA21, triplication of Usp16 reduces self-renewal of hematopoietic stem cells and expansion of mammary epithelial cells, neural progenitors, and fibroblasts. Moreover, Usp16 is associated with decreased ubiquitination of Cdkn2a and accelerated senescence in Ts65Dn fibroblasts. Usp16 can remove ubiquitin from H2AK119, a critical mark for the maintenance of multiple somatic tissues. Downregulation of Usp16, either by mutation of a single normal USP16 allele or by shRNAs, largely rescues all these defects. Furthermore, in human tissues overexpression of USP16 reduces the expansion of normal fibroblasts and post-natal neural progenitors while downregulation of USP16 partially rescues the proliferation defects of DS fibroblasts. Taken together, these results suggest that USP16 plays an important role in antagonizing the self-renewal and/or senescence pathways in Down syndrome and could serve as an attractive target to ameliorate some of the associated pathologies. PMID:24025767

  4. Evaluating the Role of p38 MAPK in the Accelerated Cell Senescence of Werner Syndrome Fibroblasts

    Directory of Open Access Journals (Sweden)

    Terence Davis

    2016-04-01

    Full Text Available Progeroid syndromes show features of accelerated ageing and are used as models for human ageing, of which Werner syndrome (WS is one of the most widely studied. WS fibroblasts show accelerated senescence that may result from p38 MAP kinase activation since it is prevented by the p38 inhibitor SB203580. Thus, small molecule inhibition of p38-signalling may be a therapeutic strategy for WS. To develop this approach issues such as the in vivo toxicity and kinase selectivity of existing p38 inhibitors need to be addressed, so as to strengthen the evidence that p38 itself plays a critical role in mediating the effect of SB203580, and to find an inhibitor suitable for in vivo use. In this work we used a panel of different p38 inhibitors selected for: (1 having been used successfully in vivo in either animal models or human clinical trials; (2 different modes of binding to p38; and (3 different off-target kinase specificity profiles, in order to critically address the role of p38 in the premature senescence seen in WS cells. Our findings confirmed the involvement of p38 in accelerated cell senescence and identified p38 inhibitors suitable for in vivo use in WS, with BIRB 796 the most effective.

  5. Bilateral Entry and Release of Middle East Respiratory Syndrome Coronavirus Induces Profound Apoptosis of Human Bronchial Epithelial Cells

    Science.gov (United States)

    Tao, Xinrong; Hill, Terence E.; Morimoto, Chikao; Peters, Clarence J.; Ksiazek, Thomas G.

    2013-01-01

    The newly emerged Middle East respiratory syndrome coronavirus (MERS-CoV) infects human bronchial epithelial Calu-3 cells. Unlike severe acute respiratory syndrome (SARS)-CoV, which exclusively infects and releases through the apical route, this virus can do so through either side of polarized Calu-3 cells. Infection results in profound apoptosis within 24 h irrespective of its production of titers that are lower than those of SARS-CoV. Together, our results provide new insights into the dissemination and pathogenesis of MERS-CoV and may indicate that the virus differs markedly from SARS-CoV. PMID:23824802

  6. Endothelial Progenitor Cell Dysfunction in Polycystic Ovary Syndrome: Implications for The Genesis of Cardiovascular Diseases

    Directory of Open Access Journals (Sweden)

    Yu-Hsun Kao

    2013-01-01

    Full Text Available Polycystic ovary syndrome (PCOS, the most common endocrine disorder affecting women ofreproductive age, is characterized by hyperandrogenism and insulin resistance. Women withPCOS have a higher risk for cardiovascular diseases (CVDs and endothelial dysfunction. Themechanisms underlying these risks are unclear. Human peripheral blood contains circulatingendothelial progenitor cells (EPCs derived from bone marrow that have the ability to proliferate anddifferentiate into mature endothelial cells, which may contribute to vessel homeostasis and repair.PCOS is associated with insulin resistance, hyperinsulinemia, and dyslipidemia, which may resultin EPC dysfunction. In this review, we summarize the potential mechanisms of EPC dysfunction inPCOS, which possibly result in a higher genesis of CVDs in PCOS-affected subjects.

  7. Hematopoietic Stem Cell Transplant for Mycosis Fungoides and Sézary Syndrome.

    Science.gov (United States)

    Virmani, Pooja; Zain, Jasmine; Rosen, Steven T; Myskowski, Patricia L; Querfeld, Christiane

    2015-10-01

    Mycosis fungoides (MF) and Sézary syndrome (SS) are common types of primary cutaneous T-cell lymphoma. Early-stage MF has a favorable prognosis and responds well to skin-directed regimens. Patients with advanced-stage MF, transformed MF, and SS are treated with combined systemic and skin-directed therapies. However, the disease is incurable with standard regimens, and frequent relapses are common. Owing to the lack of improvement in overall survival with standard regimens, hematopoietic stem cell transplant (HSCT) has been explored as a potential curative option. This article reviews the role of HSCT in MF/SS and discusses data regarding conditioning regimens, treatment-related complications, and outcomes.

  8. Thrombotic microangiopathic syndromes associated with drugs, HIV infection, hematopoietic stem cell transplantation and cancer.

    Science.gov (United States)

    George, James N; Terrell, Deirdra R; Vesely, Sara K; Kremer Hovinga, Johanna A; Lämmle, Bernhard

    2012-03-01

    Thrombotic microangiopathy (TMA) has multiple etiologies. In the four disorders described in this review, the primary organ involved is the kidney. Drug-associated TMA can be an acute, immune-mediated disorder or the result of gradual, dose-dependent toxicity. TMA may occur in patients with advanced HIV infection, possibly mediated by angio-invasive infections. TMA following allogeneic hematopoietic stem cell transplantation may also be caused by drug toxicity; the pathogenesis may involve inhibition of vascular endothelial cell growth factor in renal podocytes. Malignancies of many types with systemic microvascular involvement may cause TMA. Recognition that these syndromes may mimic TTP is important to provide appropriate management and to avoid the inappropriate use of plasma exchange treatment.

  9. [Autoinflammatory syndromes].

    Science.gov (United States)

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases.

  10. Leydig cell clustering and Reinke crystal distribution in relation to hormonal function in adult patients with testicular dysgenesis syndrome (TDS) including cryptorchidism

    DEFF Research Database (Denmark)

    Soerensen, Rikke R; Johannsen, Trine H; Skakkebaek, Niels E

    2016-01-01

    OBJECTIVE: Testicular dysgenesis syndrome (TDS) comprises testicular germ cell cancer, cryptorchidism and some cases of male infertility and hypospadias, which can be linked to impairment of intrauterine gonadal development. Among histological signs of TDS, large Leydig cell (LC) clusters (micron...

  11. Transchromosomic cell model of Down syndrome shows aberrant migration, adhesion and proteome response to extracellular matrix

    Directory of Open Access Journals (Sweden)

    Cotter Finbarr E

    2009-08-01

    Full Text Available Abstract Background Down syndrome (DS, caused by trisomy of human chromosome 21 (HSA21, is the most common genetic birth defect. Congenital heart defects (CHD are seen in 40% of DS children, and >50% of all atrioventricular canal defects in infancy are caused by trisomy 21, but the causative genes remain unknown. Results Here we show that aberrant adhesion and proliferation of DS cells can be reproduced using a transchromosomic model of DS (mouse fibroblasts bearing supernumerary HSA21. We also demonstrate a deacrease of cell migration in transchromosomic cells independently of their adhesion properties. We show that cell-autonomous proteome response to the presence of Collagen VI in extracellular matrix is strongly affected by trisomy 21. Conclusion This set of experiments establishes a new model system for genetic dissection of the specific HSA21 gene-overdose contributions to aberrant cell migration, adhesion, proliferation and specific proteome response to collagen VI, cellular phenotypes linked to the pathogenesis of CHD.

  12. Alveolar type II epithelial cell dysfunction in rat experimental hepatopulmonary syndrome (HPS.

    Directory of Open Access Journals (Sweden)

    Wenli Yang

    Full Text Available The hepatopulmonary syndrome (HPS develops when pulmonary vasodilatation leads to abnormal gas exchange. However, in human HPS, restrictive ventilatory defects are also observed supporting that the alveolar epithelial compartment may also be affected. Alveolar type II epithelial cells (AT2 play a critical role in maintaining the alveolar compartment by producing four surfactant proteins (SPs, SP-A, SP-B, SP-C and SP-D which also facilitate alveolar repair following injury. However, no studies have evaluated the alveolar epithelial compartment in experimental HPS. In this study, we evaluated the alveolar epithelial compartment and particularly AT2 cells in experimental HPS induced by common bile duct ligation (CBDL. We found a significant reduction in pulmonary SP production associated with increased apoptosis in AT2 cells after CBDL relative to controls. Lung morphology showed decreased mean alveolar chord length and lung volumes in CBDL animals that were not seen in control models supporting a selective reduction of alveolar airspace. Furthermore, we found that administration of TNF-α, the bile acid, chenodeoxycholic acid, and FXR nuclear receptor activation (GW4064 induced apoptosis and impaired SP-B and SP-C production in alveolar epithelial cells in vitro. These results imply that AT2 cell dysfunction occurs in experimental HPS and is associated with alterations in the alveolar epithelial compartment. Our findings support a novel contributing mechanism in experimental HPS that may be relevant to humans and a potential therapeutic target.

  13. Genetic obesity syndromes.

    Science.gov (United States)

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome.

  14. Generation of an ICF Syndrome Model by Efficient Genome Editing of Human Induced Pluripotent Stem Cells Using the CRISPR System

    Directory of Open Access Journals (Sweden)

    Izuho Hatada

    2013-09-01

    Full Text Available Genome manipulation of human induced pluripotent stem (iPS cells is essential to achieve their full potential as tools for regenerative medicine. To date, however, gene targeting in human pluripotent stem cells (hPSCs has proven to be extremely difficult. Recently, an efficient genome manipulation technology using the RNA-guided DNase Cas9, the clustered regularly interspaced short palindromic repeats (CRISPR system, has been developed. Here we report the efficient generation of an iPS cell model for immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF syndrome using the CRISPR system. We obtained iPS cells with mutations in both alleles of DNA methyltransferase 3B (DNMT3B in 63% of transfected clones. Our data suggest that the CRISPR system is highly efficient and useful for genome engineering of human iPS cells.

  15. Generation of an ICF syndrome model by efficient genome editing of human induced pluripotent stem cells using the CRISPR system.

    Science.gov (United States)

    Horii, Takuro; Tamura, Daiki; Morita, Sumiyo; Kimura, Mika; Hatada, Izuho

    2013-09-30

    Genome manipulation of human induced pluripotent stem (iPS) cells is essential to achieve their full potential as tools for regenerative medicine. To date, however, gene targeting in human pluripotent stem cells (hPSCs) has proven to be extremely difficult. Recently, an efficient genome manipulation technology using the RNA-guided DNase Cas9, the clustered regularly interspaced short palindromic repeats (CRISPR) system, has been developed. Here we report the efficient generation of an iPS cell model for immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF) syndrome using the CRISPR system. We obtained iPS cells with mutations in both alleles of DNA methyltransferase 3B (DNMT3B) in 63% of transfected clones. Our data suggest that the CRISPR system is highly efficient and useful for genome engineering of human iPS cells.

  16. Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations.

    Science.gov (United States)

    Farra, N; Zhang, W-B; Pasceri, P; Eubanks, J H; Salter, M W; Ellis, J

    2012-12-01

    Rett syndrome (RTT) is a neurodevelopmental autism spectrum disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Here, we describe the first characterization and neuronal differentiation of induced pluripotent stem (iPS) cells derived from Mecp2-deficient mice. Fully reprogrammed wild-type (WT) and heterozygous female iPS cells express endogenous pluripotency markers, reactivate the X-chromosome and differentiate into the three germ layers. We directed iPS cells to produce glutamatergic neurons, which generated action potentials and formed functional excitatory synapses. iPS cell-derived neurons from heterozygous Mecp2(308) mice showed defects in the generation of evoked action potentials and glutamatergic synaptic transmission, as previously reported in brain slices. Further, we examined electrophysiology features not yet studied with the RTT iPS cell system and discovered that MeCP2-deficient neurons fired fewer action potentials, and displayed decreased action potential amplitude, diminished peak inward currents and higher input resistance relative to WT iPS-derived neurons. Deficiencies in action potential firing and inward currents suggest that disturbed Na(+) channel function may contribute to the dysfunctional RTT neuronal network. These phenotypes were additionally confirmed in neurons derived from independent WT and hemizygous mutant iPS cell lines, indicating that these reproducible deficits are attributable to MeCP2 deficiency. Taken together, these results demonstrate that neuronally differentiated MeCP2-deficient iPS cells recapitulate deficits observed previously in primary neurons, and these identified phenotypes further illustrate the requirement of MeCP2 in neuronal development and/or in the maintenance of normal function. By validating the use of iPS cells to delineate mechanisms underlying RTT pathogenesis, we identify deficiencies that can be targeted for in vitro translational screens.

  17. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kimonis, V.E.; Yang, M.L.; Bale, S.J. [National Institute of Arthritis and Musculoskeletal and Skin Disease, Bethesda, MD (United States)] [and others

    1997-03-31

    Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies and calcification of the falx cerebri. We reviewed the findings on 105 affected individuals examined at the NIH since 1985. The data included 48 males and 57 females ranging in age from 4 months to 87 years. Eighty percent of whites (71/90) and 38% (5/13) of African-Americans had at least one basal cell carcinoma (BCC), with the first tumor occurring at a mean age of 23 (median 20) years and 21 (median 20) years, respectively. Excluding individuals exposed to radiation therapy, the number of BCCs ranged from 1 to >1,000 (median 8) and 1 to 3 (median 2), respectively, in the 2 groups. Jaw cysts occurred in 78/105 (74%) with the first tumor occurring in 80% by the age of 20 years. The number of total jaw cysts ranged from 1 to 28 (median 3). Palmar pits and plantar pits were seen in 87%. Ovarian fibromas were diagnosed by ultrasound in 9/52 (17%) at a mean age of 30 years. Medulloblastoma occurred in 4 patients at a mean age of 2.3 years. Three patients had cleft lip or palate. Physical findings include {open_quotes}coarse face{close_quotes} in 54%, relative macrocephaly in 50%, hypertelorism in 42%, frontal bossing in 27%, pectus deformity in 13%, and Sprengel deformity in 11%. This study delineates the frequency of the clinical and radiological anomalies in NBCC in a large population of US patients and discusses guidelines for diagnosis and management. 48 refs., 3 figs., 5 tabs.

  18. Numb chin syndrome as a manifestation of metastatic squamous cell carcinoma of esophagus

    Directory of Open Access Journals (Sweden)

    Narendra H

    2009-01-01

    Full Text Available Numb chin syndrome (NCS is a sensory neuropathy presenting with numbness of the chin in the distribution of the mental nerve and the branches of the mandibular division of the trigeminal nerve. Though it can be caused by a benign process, NCS should be regarded as being due to malignancy until proven otherwise. Among the malignancies that cause NCS the most common are breast cancer, prostate cancer, and lymphoreticular malignancy. In squamous cell carcinoma (SCC of the esophagus, spread to the mandible is a rare and often late event. An often overlooked clinical sign in mandibular metastases is hypoesthesia or paresthesia over the peripheral distribution of the inferior alveolar nerve/mental nerve; this sign has been referred to in the literature as NCS or numb lip syndrome or mental nerve neuropathy. Rarely, this may be the first presentation of a disseminated malignancy. Prognosis is usually poor. The discovery of this symptom should alert the clinician to the possibility of disseminated disease. In this article we report a rare case of metastatic SCC of the esophagus in a 40-year-old male patient who presented with NCS. We also review the mechanism, causes, and evaluation of NCS.

  19. Non-syndromic multiple impacted supernumerary teeth with peripheral giant cell granuloma

    Directory of Open Access Journals (Sweden)

    Pankaj Bansal

    2011-01-01

    Full Text Available Peripheral giant cell granuloma (PGCG is a relatively frequent benign reactive lesion of the gingiva, originating from the periosteum or periodontal membrane following local irritation or chronic trauma. PGCG manifests as a red-purple nodule located in the region of the gingiva or edentulous alveolar margins. The lesion can develop at any age, although it is more common between the second and third decades of life, and shows a slight female predilection. PGCG is a soft tissue lesion that very rarely affects the underlying bone, although the latter may suffer superficial erosion. A supernumerary tooth is one that is additional to the normal series and can be found in almost any region of the dental arch. These teeth may be single, multiple, erupted or unerupted and may or may not be associated with syndrome. Usually, they cause one or the other problem in eruption or alignment of teeth, but may also present without disturbing the normal occlusion or eruption pattern. Management of these teeth depends on the symptoms. Presented here is a case of PGCG in relation to the lower left permanent first molar with three supernumerary teeth in the mandibular arch but no associated syndrome.

  20. Modeling Human Bone Marrow Failure Syndromes Using Pluripotent Stem Cells and Genome Engineering.

    Science.gov (United States)

    Jung, Moonjung; Dunbar, Cynthia E; Winkler, Thomas

    2015-12-01

    The combination of epigenetic reprogramming with advanced genome editing technologies opened a new avenue to study disease mechanisms, particularly of disorders with depleted target tissue. Bone marrow failure syndromes (BMFS) typically present with a marked reduction of peripheral blood cells due to a destroyed or dysfunctional bone marrow compartment. Somatic and germline mutations have been etiologically linked to many cases of BMFS. However, without the ability to study primary patient material, the exact pathogenesis for many entities remained fragmentary. Capturing the pathological genotype in induced pluripotent stem cells (iPSCs) allows studying potential developmental defects leading to a particular phenotype. The lack of hematopoietic stem and progenitor cells in these patients can also be overcome by differentiating patient-derived iPSCs into hematopoietic lineages. With fast growing genome editing techniques, such as CRISPR/Cas9, correction of disease-causing mutations in iPSCs or introduction of mutations in cells from healthy individuals enable comparative studies that may identify other genetic or epigenetic events contributing to a specific disease phenotype. In this review, we present recent progresses in disease modeling of inherited and acquired BMFS using reprogramming and genome editing techniques. We also discuss the challenges and potential shortcomings of iPSC-based models for hematological diseases.

  1. Epigenetic modifications in human fragile X pluripotent stem cells; Implications in fragile X syndrome modeling.

    Science.gov (United States)

    Gerhardt, Jeannine

    2017-02-01

    Patients with fragile X syndrome (FXS) exhibit moderate to severe intellectual disabilities. In addition, one-third of FXS patients show characteristics of autism spectrum disorder. FXS is caused by a trinucleotide repeat expansion, which leads to silencing of the fragile X mental retardation (FMR1) gene. The absence of the FMR1 gene product, FMRP, is the reason for the disease symptoms. It has been suggested that repeat instability and transcription of the FMR1 gene occur during early embryonic development, while after cell differentiation repeats become stable and the FMR1 gene is silent. Epigenetic marks, such as DNA methylation, are associated with gene silencing and repeat stability at the FMR1 locus. However, the mechanisms leading to gene silencing and repeat expansion are still ambiguous, because studies at the human genomic locus were limited until now. The FXS pluripotent stem cells, recently derived from FXS adult cells and FXS blastocysts, are new useful tools to examine these mechanisms at the human endogenous FMR1 locus. This review summarizes the epigenetic features and experimental studies of FXS human embryonic and FXS induced pluripotent stem cells, generated so far. This article is part of a Special Issue entitled SI: Exploiting human neurons.

  2. Ovarian steroid cell tumor in women with polycystic ovarian syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Yarandi F

    2013-04-01

    Full Text Available Background: Steroid cell tumor is one of the rare ovarian tumors and forms 0.1% of all ovarian tumors, divided to three subgroups. Steroid cell tumor that are not otherwise specified (NOS are the most common type and represent 60% of steroid cell tumors. One of the most known signs of this tumor is hormonal function, especially androgenic effects of it. Primary treatment consists of eradication of tumor via surgery.Case presentation: The patient is a 29 years old female with history of poly cystic ovarian syndrome since 10 years ago, who attended to the clinic of General Women Hospital of Tehran in January 2011. In pelvic ultrasonography, there was a 6449mm mass in the right adnexa consisting of homogeneous component. She underwent laparotomy and unilateral salpingoophorectomy was done. Pathological report was steroid cell tumor of ovary.Conclusion: The aim of this study is reporting one of the rare tumors of ovary and assessment of the correct way of diagnosis and treatment of it.

  3. Rapamycin reverses cellular phenotypes and enhances mutant protein clearance in Hutchinson-Gilford progeria syndrome cells.

    Science.gov (United States)

    Cao, Kan; Graziotto, John J; Blair, Cecilia D; Mazzulli, Joseph R; Erdos, Michael R; Krainc, Dimitri; Collins, Francis S

    2011-06-29

    Hutchinson-Gilford progeria syndrome (HGPS) is a lethal genetic disorder characterized by premature aging. HGPS is most commonly caused by a de novo single-nucleotide substitution in the lamin A/C gene (LMNA) that partially activates a cryptic splice donor site in exon 11, producing an abnormal lamin A protein termed progerin. Accumulation of progerin in dividing cells adversely affects the integrity of the nuclear scaffold and leads to nuclear blebbing in cultured cells. Progerin is also produced in normal cells, increasing in abundance as senescence approaches. Here, we report the effect of rapamycin, a macrolide antibiotic that has been implicated in slowing cellular and organismal aging, on the cellular phenotypes of HGPS fibroblasts. Treatment with rapamycin abolished nuclear blebbing, delayed the onset of cellular senescence, and enhanced the degradation of progerin in HGPS cells. Rapamycin also decreased the formation of insoluble progerin aggregates and induced clearance through autophagic mechanisms in normal fibroblasts. Our findings suggest an additional mechanism for the beneficial effects of rapamycin on longevity and encourage the hypothesis that rapamycin treatment could provide clinical benefit for children with HGPS.

  4. 12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome.

    Science.gov (United States)

    Izumi, Kosuke; Zhang, Zhe; Kaur, Maninder; Krantz, Ian D

    2014-12-01

    Pallister-Killian syndrome is a multisystem sporadic genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, seizures, diaphragmatic hernia, and other systemic abnormalities. Pallister-Killian syndrome is typically caused by the presence of a supernumerary isochromosome that is always present in a tissue limited mosaic pattern, resulting in tetrasomy 12p due to the two extra copies of 12p. We evaluated the potential contribution of microRNAs located on 12p to the pathogenesis of Pallister-Killian syndrome phenotype. Using skin fibroblast cell lines from 13 probands with Pallister-Killian syndrome and 5 normal matched controls, the expression level of 5 microRNAs located on 12p and their target gene mRNA levels were measured. All measured micro RNAs located on 12p were overexpressed in Pallister-Killian syndrome fibroblasts, although the fold difference of the expression level was lower than copy number differences. Among the five microRNAs, miR-1244 had the highest fold difference. Many of computer-predicted target genes of miR-1244 were downregulated in Pallister-Killian syndrome skin fibroblasts. In particular, expression levels of MEIS2 and UQCRB were significantly decreased in Pallister-Killian syndrome samples, and an inverse linear correlation was seen between the level of miR-1244 and MEIS2 and UQCRB expression levels. Since many of computer-predicted miR-1244 target genes play roles in transcriptional regulation, overexpression of miR-1244 due to tetrasomy 12p may contribute to the pleiotropic phenotype of Pallister-Killian syndrome by modulating its downstream target genes including MEIS2 and UQCRB.

  5. Increased frequency of CD16+monocytes and the presence of activated dendritic cells in salivary glands in primary Sjogren syndrome

    NARCIS (Netherlands)

    Wildenberg, M. E.; Welzen-Coppens, J. M. C.; van Helden-Meeuwsen, C. G.; Bootsma, H.; Vissink, A.; van Rooijen, N.; de Merwe, J. P. van; Drexhage, H. A.; Versnel, M. A.

    2009-01-01

    Objectives: In the salivary glands of patients with primary Sjogren Syndrome (pSjS) an accumulation of dendritic cells (DCs) is seen, which is thought to play a role in stimulating local inflammation. Aberrancies in subsets of monocytes, generally considered the blood precursors for DCs, may play a

  6. Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndrome

    NARCIS (Netherlands)

    Wanders, R.J.A.; Barth, P.G.; Roermund, C.W.T. van; Ofman, R.; Wolterman, R.; Schutgens, R.B.H.; Tager, J.M.; Bosch, H. van den; Bolhuis, P.A.

    1987-01-01

    In the present study we investigated peroxisomal functions in cultured human muscle cells from control subjects and from a patient with the Zellweger syndrome, a genetic disease characterized by the absence of morphologically distinguishable peroxisomes in liver and kidney. In homogenates of culture

  7. Cutaneous histopathology of Sézary syndrome: a study of 41 cases with a proven circulating T-cell clone.

    Science.gov (United States)

    Trotter, M J; Whittaker, S J; Orchard, G E; Smith, N P

    1997-05-01

    Sezary syndrome is an uncommon variant of cutaneous T-cell lymphoma (CTCL) characterized by erythroderma, pruritus, adenopathy, and circulating atypical T-lymphocytes with cerebriform nuclei. The definition of Sezary syndrome can be further refined by including only patients with a circulating peripheral blood population of clonal T-cells. We have evaluated 79 skin biopsies from such a group of 41 erythrodermic patients with circulating Sezary cells and a clonal population of T-cells detected by T-cell receptor-beta gene rearrangement on Southern analysis of peripheral blood mononuclear cells. Histopathologic features consistent with chronic dermatitis were observed in 26/79 (33%) skin biopsy specimens, emphasizing that a non-specific histologic appearance is common. Evidence of CTCL was lacking in 11/41 patients on biopsy of their erythrodermic skin. The survival of these patients was not significantly different from 30/41 patients in whom skin biopsies revealed changes diagnostic of CTCL, such as a dermal lymphocytic band with atypical lymphocytes (18/79, 23%) or a mycosis fungoides-like infiltrate (30/79, 38%). This study confirms that non-specific cutaneous histopathologic findings are common in Sezary syndrome, even when a circulating T-cell clone is present. This stresses the need for peripheral blood genetic analysis and for multiple or repeat skin biopsies in erythrodermic patients when there is high clinical suspicion of CTCL.

  8. [Distribution of abnormal cell clone with deletion of chromosome 20q in marrow cell lineages and apoptosis cells in myelodysplastic syndrome].

    Science.gov (United States)

    Qin, Ling; Wang, Chun; Qin, You-Wen; Xie, Kuang-Cheng; Yan, Shi-Ke; Gao, Yan-Rong; Wang, Xiao-Rui; Zhao, Chu-Xian

    2008-06-01

    This study was aimed to investigate the distribution of abnormal clone in marrow cell lineages and apoptosis cells in myelodysplastic syndrome (MDS) with deletion of chromosome 20q. Monoclonal antibodies recognizing myeloid precursors (CD15), erythroid precursors (GPA), T cells (CD3(+)CD56(-)CD16(-)), B cells (CD19), NK cells (CD3(-)CD56(+)CD16(+)) were used to sort bone marrow cells in a MDS patient with del (20q) by fluorescence activated cell sorting (FACS). Annexin V-FITC and PI were used to sort bone marrow Annexin V(+)PI(-) and Annexin V(-)PI(-) cells by FACS. The sorted positive cells were detected by interphase dual-color fluorescence in situ hybridization (D-FISH) using a LSI D20S108 probe (Spectrum Orange) and a Telvysion TM 20p probe (Spectrum Green). FACS and FISH analysis were also performed on the samples from 4 cases with normal karyotype. The results showed that the proportions of MDS clone in the myeloid and erythroid precursors were 70.50% and 93.33% respectively, in the RAEB-1 patient with del (20q) and were obviously higher than that in control group (5.39% and 6.17%). The proportions of abnormal clone in T, B and NK cells were 3.23%, 4.32% and 5.77% respectively and were less than that in control group (5.76%, 4.85%, 6.36%). The percentage of apoptotic cells in the bone marrow nucleated cells was 16.09%. The proportions of MDS clone in Annexin V(+)PI(-) and Annexin V(-)PI(-) cells were 32.48% and 70.11%, respectively. It is concluded that most myeloid and erythroid precursors are originated from the abnormal clone in MDS with del (20q). A little part of apoptotic cells are derived from the abnormal clone.

  9. Targeting Werner syndrome protein sensitizes U-2 OS osteosarcoma cells to selenium-induced DNA damage response and necrotic death

    DEFF Research Database (Denmark)

    Cheng, Wen-Hsing; Wu, Ryan T Y; Wu, Min;

    2012-01-01

    in mouse models of cancer. To test the hypothesis that targeting WRN can potentiate selenium toxicity in cancer cells, isogenic WRN small hairpin RNA (shRNA) and control shRNA U-2 OS osteosarcoma cells were treated with MSeA for 2d, followed by recovery for up to 7d. WRN deficiency sensitized U-2 OS cells......Mutations in the Werner syndrome protein (WRN), a caretaker of the genome, result in Werner syndrome, which is characterized by premature aging phenotypes and cancer predisposition. Methylseleninic acid (MSeA) can activate DNA damage responses and is a superior compound to suppress tumorigenesis......, but promoted recovery from the MSeA-induced DNA damage. Taken together, WRN protects U-2 OS osteosarcoma cells against MSeA-induced cytotoxicity, suggesting that oxidative DNA repair pathway is a promising target for improving the efficacy of selenium on tumor suppression....

  10. [Diffuse tenosenovial giant cell tumor of the wrist revealed by carpal tunnel syndrome: report of a case].

    Science.gov (United States)

    Ait Essi, F; Younsi, A; Abkari, I; Benhima, M A; Najeb, Y; Latifi, M; Fakhri, A; Belaabidia, B

    2012-10-01

    Giant cell tumour of tendon sheath is a benign proliferative lesion of synovial origin that may affect the joints, bursae and tendon sheaths. It is the second most common soft tissue tumor of the hand after ganglion cyst. The localised (nodular) form is the most common. However, the less-common diffuse-type giant cell tumour is usually located in the peri-articular soft tissue. The authors report the case of a giant cell tumor of the tendon sheath arising from the carpal tunnel of the wrist in a 42-year-old woman. The patient presented a mild carpal tunnel syndrome and a mid-palmar swelling. We present an unusual localization of giant cell tumor of the tendon sheath, causing carpal tunnel syndrome.

  11. Differentiating giant cell tumor of bone from patellofemoral syndrome: a case study.

    Science.gov (United States)

    Bonar, Jason; Carr, Shannon Clutton; De Carvalho, Diana; Wunder, Jay S

    2016-03-01

    Balancing the assessment of musculoskeletal dysfunctions with a high level of suspicion for non-mechanical origins can be a challenge for the clinician examining a sports injury. Without timely diagnosis, non-mechanical complaints could result in surgery or loss of limb. This case describes the discovery of a Giant Cell Tumor of Bone (GCTB) following the re-evaluation of an athlete who had undergone five years of conservative management for patellofemoral pain syndrome (PFPS). Knee injuries account for 32.6% of sports injuries with PFPS being the most common and most likely diagnosis for anterior knee pain. GCTB is a benign aggressive bone tumor with a predilection for the juxta-articular region of the knee, comprising up to 23% of all benign bone tumors, and commonly occurs in the second to fourth decades. This case report illustrates the difficulty in accurately diagnosing healthy athletes, reviews common differentials for knee complaints and explores helpful diagnostic procedures.

  12. Acute Chest Syndrome in Sickle Cell Disease Patients Post Caesarean Delivery

    Directory of Open Access Journals (Sweden)

    YM Zhang

    2016-02-01

    Full Text Available Sickle cell disease (SCD is the most common inherited disease worldwide and is associated with anaemia and intermittent painful crisis. Pregnant women who are affected are known to have increased maternal and fetal mortality and morbidity. Acute chest syndrome (ACS is an uncommon but serious complication in pregnant women with SCD that can lead to death. We present two cases of patients with SCD, both of whom had severe ACS within 24 hours post Caesarean section. By accurate diagnosis and appropriate management by a multidisciplinary team, both mothers and fetuses had excellent outcomes. It is suggested that prompt recognition of ACS in a pregnant woman with SCD and collaborative medical and obstetric management are essential to optimize maternal and fetal outcomes.

  13. Generation of Hermansky Pudlak syndrome type 2 (HPS2 induced pluripotent stem cells (iPSCs

    Directory of Open Access Journals (Sweden)

    Jean Ann Maguire

    2016-03-01

    Full Text Available Hermansky–Pudlak syndrome type 2 (HPS2 is a rare autosomal recessive disorder resulting from functional mutations in the adaptor-related protein complex 3, beta 1 subunit (AP3B1 gene. This gene plays a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Here we describe the generation of an HPS2 iPS cell line (CHOPHPS2 using a Cre-excisable polycistronic STEMCCA lentivirus. This line was derived from human fibroblasts isolated from a patient carrying two mutations in the AP3B1 gene. The patient presented with severe neutropenia, ocular albinism, interstitial pulmonary fibrosis, hemorrhagic diathesis, and an absence of platelet-dense granules.

  14. YKL-40 in allogeneic hematopoietic cell transplantation after AML and myelodysplastic syndrome

    DEFF Research Database (Denmark)

    Kornblit, B; Wang, T; Lee, S J;

    2016-01-01

    YKL-40, also called chitinase-3-like-1 protein, is an inflammatory biomarker that has been associated with disease severity in inflammatory and malignant diseases, including AML, multiple myeloma and lymphomas. The objective of the current study was to assess the prognostic value of pretransplant......, otherwise equal, donors are available.Bone Marrow Transplantation advance online publication, 18 July 2016; doi:10.1038/bmt.2016.192....... recipient and donor plasma YKL-40 concentrations in patients with AML (n=624) or myelodysplastic syndrome (n=157) treated with allogeneic hematopoietic cell transplantation (HCT). In recipients, the plasma YKL-40 concentrations were increased when the HCT-comorbidity index was ⩾5 (P=0.028). There were...

  15. Generation of rat-induced pluripotent stem cells from a new model of metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Nana Takenaka-Ninagawa

    Full Text Available We recently characterized DahlS.Z-Leprfa/Leprfa (DS/obese rats, derived from a cross between Dahl salt-sensitive rats and Zucker rats, as a new animal model of metabolic syndrome (MetS. Although the phenotype of DS/obese rats is similar to that of humans with MetS, the pathophysiological and metabolic characteristics in each cell type remain to be clarified. Hence, the establishment of induced pluripotent stem cells (iPSCs derived from MetS rats is essential for investigations of MetS in vitro. Reports of rat iPSCs (riPSCs, however, are few because of the difficulty of comparing to other rodents such as mouse. Recently, the advantage of using mesenchymal stromal cells (MSCs as a cell source for generating iPSCs was described. We aimed to establish riPSCs from MSCs in adipose tissues of both DS/obese rats and their lean littermates, DahlS.Z-Lepr+/Lepr+ (DS/lean rats using lentivirus vectors with only three factors Oct4, Klf4, and Sox2 without c-Myc. The morphology, gene expression profiles, and protein expression of established colonies showed embryonic stem cell (ESCs-like properties, and the differentiation potential into cells from all three germ layers both in vitro and in vivo (teratomas. Both riPSCs became adipocytes after induction of adipogenesis by insulin, T3, and dexamethasone. Real-time PCR analysis also revealed that both riPSCs and the adipose tissue from DS/obese and DS/lean rats possess similar expression patterns of adipocyte differentiation-related genes. We succeeded in generating riPSCs effectively from MSCs of both DS/obese and DS/lean rats. These riPSCs may well serve as highly effective tools for the investigation of MetS pathophysiology in vitro.

  16. Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts

    OpenAIRE

    1999-01-01

    We have investigated the cellular pathology of the syndrome called thiamine-responsive megaloblastic anemia (TRMA) with diabetes and deafness. Cultured diploid fibroblasts were grown in thiamine-free medium and dialyzed serum. Normal fibroblasts survived indefinitely without supplemental thiamine, whereas patient cells died in 5–14 days (mean 9.5 days), and heterozygous cells survived for more than 30 days. TRMA fibroblasts were rescued from death with 10–30 nM thiamine (in the range of norma...

  17. Immunologic aspects of West syndrome and evidence of plasma inhibitory effects on T cell function

    Directory of Open Access Journals (Sweden)

    Montelli Terezinha C.B.

    2003-01-01

    Full Text Available STUDY OBJECTIVE: The purpose of this study was to assess the extent of immune dysfunction in a well-defined group of epileptic patients: children with diagnosis of West syndrome (WS or with transitions to another age-related EEG patterns, the multifocal independent spikes (MIS, and the slow spike-wave complexes (Lennox-Gastaut syndrome - LGS. Thus, WS was studied at different points of the natural evolutive history of the disease. METHOD: A group of 50 patients (33 with WS, 10 with LGS and 7 with MIS and 20 age-matched healthy controls were submitted to enumeration of T lymphocyte subsets: CD1, CD3, CD4, CD8, CD4/CD8 ratio and lymphocyte proliferation assay to phytohaemagglutinin (PHA, in the presence of autologous and AB, homologous plasma. Dinitrochlorobenzene (DNCB skin test sensitization was performed only in patients. Determinations of IgG, IgA, and IgM serum levels were compared to standard values for Brazilian population in different age ranges. RESULTS: Sensitization to DNCB showed absent or low skin reactions in 76% of the patients. High levels of IgG (45.7% and IgM (61.4%, and lower levels of IgA (23.9% were detected in the serum of the patients. Enumeration of lymphocyte subsets in peripheral blood showed: low CD3+ (p<0.05, low CD4+ (p<0.05, high CD8+ (p<0.01 and low CD4+ / CD8+ ratio (p<0.001. The proportion of CD1+ cells in the control group was less than 3%, while ranged between 6 and 11 % in 18% of the patients. The in vitro PHA-induced T cell proliferation showed significantly low blastogenic indices only when patients, cells were cultured in presence of their own plasma. No differences in blastogenic indices were observed when the cells of patients and controls were cultured with human AB plasma. CONCLUSION: The immunodeficiency in WS was mainly characterized by anergy, impaired cell-mediated immunity, altered levels of immunoglobulins, presence of immature thymocytes in peripheral blood and functional impairment of T

  18. Delayed β-cell response and glucose intolerance in young women with Turner syndrome

    Directory of Open Access Journals (Sweden)

    Schmitz Ole

    2011-03-01

    Full Text Available Abstract Background To investigate glucose homeostasis in detail in Turner syndrome (TS, where impaired glucose tolerance (IGT and type 2 diabetes are frequent. Methods Cross sectional study of women with Turner syndrome (TS(n = 13 and age and body mass index matched controls (C (n = 13, evaluated by glucose tolerance (oral and intravenous glucose tolerance test (OGTT and IVGTT, insulin sensitivity (hyperinsulinemic, euglycemic clamp, beta-cell function (hyperglycaemic clamp, arginine and GLP-1 stimulation and insulin pulsatility. Results Fasting glucose and insulin levels were similar. Higher glucose responses was seen in TS during OGTT and IVGTT, persisting after correction for body weight or muscle mass, while insulin responses were similar in TS and C, despite the higher glucose level in TS, leading to an insufficient increase in insulin response during dynamic testing. Insulin sensitivity was comparable in the two groups (TS vs. control: 8.6 ± 1.8 vs. 8.9 ± 1.8 mg/kg*30 min; p = 0.6, and the insulin responses to dynamic β-cell function tests were similar. Insulin secretion patterns examined by deconvolution analysis, approximate entropy, spectral analysis and autocorrelation analysis were similar. In addition we found low IGF-I, higher levels of cortisol and norepinephrine and an increased waist-hip ratio in TS. Conclusions Young normal weight TS women show significant glucose intolerance in spite of normal insulin secretion during hyperglycaemic clamping and normal insulin sensitivity. We recommend regularly testing for diabetes in TS. Trial Registration Registered with http://clinicaltrials.com, ID nr: NCT00419107

  19. Role of mast cell-miR-490-5p in irritable bowel syndrome

    Science.gov (United States)

    Ren, Hai-Xia; Zhang, Fa-Can; Luo, He-Sheng; Zhang, Guo; Liang, Lie-Xin

    2017-01-01

    AIM To determine the functional role of miR-490-5p in mast cell proliferation and apoptosis, and in the mast cell tryptase/PAR-2 signal pathway. METHODS The 3rd generation of lentivirus vector systems containing enhanced green fluorescent protein (EGFP) (Ruisai Inc., Shanghai, China), which acts as a reporter gene was used to construct the mmu-miR-490-5p lentivirus expression vector pEGFP-antagomiR-490-5p, and the lentivirus vector pEGFP-negative was used as a negative control. The stably transfected mast cell line p815 was then constructed. GFP positive cells were successfully transfected cells. We determined the expression of miR-490-5p in p815 mast cells before and after transfection using quantitative real-time PCR (qRT-PCR). In addition, after transduction with the lentivirus vectors, the role of miR-490-5p in mast cell proliferation and apoptosis was investigated using the CCK-8 assay and flow cytometry, respectively. The mRNA levels of tryptase and PAR-2 were detected by qRT-PCR and the protein levels were detected by Western blot. RESULTS The inhibition of miR-490-5p expression promoted apoptosis and inhibited proliferation of p815 mast cells. The mRNA levels of tryptase and PAR-2 were significantly increased after transfection compared with the control group, tryptase (P = 0.721, normal vs null; P = 0.001, siRNA vs normal; P = 0.002, siRNA vs null) and PAR-2 (P = 0.027, siRNA vs null; P = 0.353, normal vs null; P = 0.105, siRNA vs normal). The protein levels of tryptase and PAR2 were slightly higher in the siRNA group than those in the control group, but the difference was not statistically significant (P > 0.05). CONCLUSION miR-490-5p plays a vital role in the pathogenesis of irritable bowel syndrome by affecting mast cell proliferation and apoptosis; with down-regulation of miR-490-5p, the mRNA level of mast cell tryptase and PAR-2 increased, and the protein level increased, but the difference was not statistically significant.

  20. Ultrastructure of Kupffer cells and hepatocytes in the Dubin-Johnson syndrome: A case report

    Institute of Scientific and Technical Information of China (English)

    Maria Elzbieta Sobaniec-Lotowska; Dariusz Marek Lebensztejn

    2006-01-01

    Ultrastructure of Kupffer cells and hepatocytes in liver bioptate was evaluated in a 17-year-old boy with Dubin -Johnson syndrome (DJS). The liver tissue obtained by needle biopsy was fixed in glutaraldehyde and paraformaldehyde and routinely processed for electron microscopic analysis. The ultrastructural examinations of liver bioptate revealed the accumulation of membranebound, electron-dense lysosomal granules within the cytoplasm of hepatocytes, characteristic of DJS. They were located mainly in the vicinity of the biliary pole, and preferentially in the centrilobular region that corresponded to the pigment deposits seen under light microscope. The presence of the granules was accompanied by dilated elements of the granular endoplasmic reticulum and paracrystalline mitochondrial inclusions as well as dilation of the bile canaliculi. The changes in hepatocytes coexisted with marked stimulation and enhanced phagocytic activity of Kupffer cells. This was manifested in the accumulation of pigment deposits within their cytoplasm that corresponded to those observed in hepatocytes.Hyperactive pericentral Kupffer cells which are involved in the response to pigmentary material originating from disintegrated hepatocytes may play an essential role in the development of DJS.

  1. Metabolic Syndrome after Hematopoietic Cell Transplantation: At the Intersection of Treatment Toxicity and Immune Dysfunction.

    Science.gov (United States)

    Turcotte, Lucie M; Yingst, Ashley; Verneris, Michael R

    2016-07-01

    Hematopoietic cell transplantation (HCT) survivors face a multitude of short- and long-term health complications in the years after treatment. One important health complication that is associated with significant morbidity is metabolic syndrome (MetSyn). This constellation of findings, which includes obesity, glucose and lipid dysmetabolism, and hypertension, places affected individuals at increased risk for type 2 diabetes mellitus, cardiovascular complications, and stroke. Previous studies have linked MetSyn in HCT survivors to prior treatment; however, few studies have addressed the potential roles of systemic inflammation and immune system dysfunction after HCT. Within this review, we address the recent advances in the understanding of adipose tissue biology, immune, and inflammatory mechanisms involved in MetSyn in non-HCT patients, and lastly, we discuss potential novel mechanisms that may play a role in MetSyn development after HCT, such as hematopoietic stem cell source, inflammatory status of the stem cell donor, and microbiome composition, all of which represent potential new directions for post-HCT MetSyn research.

  2. Cardiorenal Syndrome Type 5 in Sepsis: Role of Endotoxin in Cell Death Pathways and Inflammation

    Directory of Open Access Journals (Sweden)

    Grazia Maria Virzì

    2016-12-01

    Full Text Available Background/Aims: Cardiorenal Syndrome Type 5 (CRS Type 5 is characterized by concomitant cardiac and renal dysfunction in the setting of different systemic disorders, such as sepsis. In this study, we investigated the possible relationship between endotoxin levels, renal cell death and inflammation in septic patients with CRS Type 5. Methods: We enrolled 11 patients with CRS Type 5. CRS Type 5 was defined according to the current classification system. AKI was defined by Acute Kidney Injury Network (AKIN criteria. Acute cardiac dysfunction was documented by echocardiography as acute left and/or right ventricular dysfunction leading to decreased ejection fraction. Endotoxin activity was measured by the Endotoxin Activity Assay (EAA. Plasma from CRS Type 5 patients was incubated with renal tubular cells (RTCs and cell death levels were evaluated. Plasma cytokines levels were measured as well. Results: Accordingly to EAA levels, patients were divided into two groups: 45.4% of patients had low endotoxin activity level (negative EAA, while 54.5% of patients showed high endotoxin activity (positive EAA. RTCs incubated with plasma from EAA positive patients showed significantly higher apoptosis levels and higher caspase-3 activation compared to cells incubated with plasma from EAA negative patients, and a significant positive correlation was observed between EAA levels and RTC apoptosis levels. Furthermore, IL-6 and IFN-γ levels were significantly higher in CRS Type 5 patients with positive EAA. Conclusion: Our data suggest a possible relationship between endotoxin levels and renal cell death in septic patients with CRS Type 5. Furthermore, this study highlights the presence of renal apoptosis, the immune deregulation and the strong inflammation in CRS Type 5 patients, especially in those with high endotoxin activity.

  3. X-chromosome inactivation in Rett Syndrome human induced pluripotent stem cells

    Directory of Open Access Journals (Sweden)

    Aaron YL Cheung

    2012-03-01

    Full Text Available Rett Syndrome (RTT is a neurodevelopmental disorder that affects girls due primarily to heterozygous mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MECP2. Random X-chromosome inactivation (XCI results in cellular mosaicism in which some cells express wild-type MECP2 while other cells express mutant MECP2. The generation of patient-specific human induced Pluripotent Stem cells (hiPSCs facilitates the production of RTT-hiPSC-derived neurons in vitro to investigate disease mechanisms and identify novel drug treatments. The generation of RTT-hiPSCs has been reported by many laboratories, however, the XCI status of RTT-hiPSCs has been inconsistent. Some report RTT-hiPSCs retain the inactive X-chromosome (post-XCI of the founder somatic cell allowing isogenic RTT-hiPSCs that express only the wild-type or mutant MECP2 allele to be isolated from the same patient. Post-XCI RTT-hiPSCs-derived neurons retain this allele-specific expression pattern of wild-type or mutant MECP2. Conversely, others report RTT-hiPSCs in which the inactive X-chromosome of the founder somatic cell reactivates (pre-XCI upon reprogramming into RTT-hiPSCs. Pre-XCI RTT-hiPSC-derived neurons exhibit random XCI resulting in cellular mosaicism with respect to wild-type and mutant MECP2 expression. Here we review and attempt to interpret the inconsistencies in XCI status of RTT-hiPSCs generated to date by comparison to other pluripotent systems in vitro and in vivo and the methods used to analyze XCI. Finally, we discuss the relative strengths and weaknesses of post- and pre-XCI hiPSCs in the context of RTT, and other X-linked and autosomal disorders for translational medicine.

  4. Observation on human ovarian theca cell and granulosa cell interaction in polycystic ovary syndrome

    Institute of Scientific and Technical Information of China (English)

    焦泽旭; 周灿权; 庄广伦; 梁晓燕

    2002-01-01

    Objective: To investigate the role of human theca cell(TC) and granulo sa cell(GC) interaction and insulin(INS) in steroidogenesis in normal ovarian cy cle and in patients with PCOS. Methods: Ovarian theca and granulosa cells from eleven normal wo men and eight PCOS patients were co-cultured on opposite side of collagen with or without INS. The concentrations of estradiol(E2), progesterone(P) and andro stenedione (A) in the culture medium were examined by ELISA method.Results: When co-cultured with GC, TC in PCOS group produced mo re A and less P than those of normal group. When co-cultured with theca cells, granulosa cells in PCOS group produced more E2 than those of normal group. Add ition of INS increased the difference significantly.Conclusions: The GC and TC interaction from the normal and PCOS ovaries is different. There is a high A and high E2 intraovary loop of PC OS leading to premature arrest of follicle growth and anovulation. Insulin may p lay an important regulatory role.

  5. Plasma cell dyscrasia with polyneuropathy--POEMS syndrome presenting with vasculitic skin lesions and responding to combination chemotherapy.

    Science.gov (United States)

    Sharabi, Y; Raanani, P; Shenkar, A; Thaler, M; Grossman, E

    2000-12-01

    We report a 61-year-old male patient who presented with severe sensorimotor neuropathy, leg edema and skin lesions with M-paraprotein and 50% plasma cells in the bone marrow. The POEMS (Crow-Fukase) syndrome was diagnosed and the skin lesions were compatible with vasculitis according to the histopathology. The patient was treated with aggressive combined chemotherapy, which induced improvement in both the clinical and laboratory parameters of his disease. To the best of our knowledge this is the first report of a vasculitic process underlying the skin changes in the POEMS syndrome. Our findings may shed light on the unknown pathogenesis of this syndrome and the successful results of treatment support the adoption of an aggressive therapeutic approach in symptomatic patients.

  6. Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture

    Directory of Open Access Journals (Sweden)

    Anna L. Lahti

    2012-03-01

    Long QT syndrome (LQTS is caused by functional alterations in cardiac ion channels and is associated with prolonged cardiac repolarization time and increased risk of ventricular arrhythmias. Inherited type 2 LQTS (LQT2 and drug-induced LQTS both result from altered function of the hERG channel. We investigated whether the electrophysiological characteristics of LQT2 can be recapitulated in vitro using induced pluripotent stem cell (iPSC technology. Spontaneously beating cardiomyocytes were differentiated from two iPSC lines derived from an individual with LQT2 carrying the R176W mutation in the KCNH2 (HERG gene. The individual had been asymptomatic except for occasional palpitations, but his sister and father had died suddenly at an early age. Electrophysiological properties of LQT2-specific cardiomyocytes were studied using microelectrode array and patch-clamp, and were compared with those of cardiomyocytes derived from control cells. The action potential duration of LQT2-specific cardiomyocytes was significantly longer than that of control cardiomyocytes, and the rapid delayed potassium channel (IKr density of the LQT2 cardiomyocytes was significantly reduced. Additionally, LQT2-derived cardiac cells were more sensitive than controls to potentially arrhythmogenic drugs, including sotalol, and demonstrated arrhythmogenic electrical activity. Consistent with clinical observations, the LQT2 cardiomyocytes demonstrated a more pronounced inverse correlation between the beating rate and repolarization time compared with control cells. Prolonged action potential is present in LQT2-specific cardiomyocytes derived from a mutation carrier and arrhythmias can be triggered by a commonly used drug. Thus, the iPSC-derived, disease-specific cardiomyocytes could serve as an important platform to study pathophysiological mechanisms and drug sensitivity in LQT2.

  7. Profile of blood cells and inflammatory mediators in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome

    Directory of Open Access Journals (Sweden)

    Brown Kelly L

    2010-09-01

    Full Text Available Abstract Background This study aimed to profile levels of blood cells and serum cytokines during afebrile and febrile phases of periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA syndrome to advance pathophysiological understanding of this pediatric disease. Methods A cohort of patients with a median age of 4.9 years experiencing 'typical PFAPA' episodes participated in this study. Blood cells and serum cytokines were analyzed by CBC analysis and multiplex ELISA. Results Oscillations in the concentration of blood cells during the afebrile and febrile phases of typical PFAPA syndrome were observed; novel findings include increased monocytes and decreased eosinophils during a febrile episode and increased thrombocytes in the afebrile interval. Relatively modest levels of pro-inflammatory cytokines were present in sera. IFNγ-induced cytokine IP10/CXCL10 was increased after the onset of fever while T cell-associated cytokines IL7 and IL17 were suppressed during afebrile and febrile periods. Conclusions Identification of dysregulated blood cells and serum cytokines is an initial step towards the identification of biomarkers of PFAPA disease and/or players in disease pathogenesis. Future investigations are required to conclusively discern which mediators are associated specifically with PFAPA syndrome.

  8. Nevo epidérmico manifestando-se como hiperceratose do mamilo e aréola Verrucous epidermal nevus manifesting as nipple and areola hyperkeratosis

    Directory of Open Access Journals (Sweden)

    Roberto Rheingantz da Cunha Filho

    2006-08-01

    Full Text Available Relata-se caso raro de nevo epidérmico na aréola mamária direita de menina de 13 anos. Segundo a classificação proposta por Levy-Franckel, essa variante é a hiperceratose do mamilo e aréola do tipo I, quando associada a nevo verrucoso. A histologia mostrou papilomatose, acantose e hiperceratose. Foram realizadas duas sessões de crioterapia sem melhora. Foi obtido bom resultado por meio de shaving e eletrocauterização.A rare case of a 13-year-old female patient with epidermal verrucous nevus on the right areola is reported. According to the Levy-Franckel classification, this variant is a type I nipple and areola hyperkeratosis, when associated to verrucous nevus. Histopathological examination showed papillomatosis, acanthosis and hyperkeratosis. Cryotherapy yielded unsatisfactory results after two sessions. A good result was obtained with shaving and electrocauterization.

  9. Mucosal-associated invariant T cell is a potential marker to distinguish fibromyalgia syndrome from arthritis.

    Directory of Open Access Journals (Sweden)

    Chie Sugimoto

    Full Text Available Fibromyalgia (FM is defined as a widely distributed pain. While many rheumatologists and pain physicians have considered it to be a pain disorder, psychiatry, psychology, and general medicine have deemed it to be a syndrome (FMS or psychosomatic disorder. The lack of concrete structural and/or pathological evidence has made patients suffer prejudice that FMS is a medically unexplained symptom, implying inauthenticity. Furthermore, FMS often exhibits comorbidity with rheumatoid arthritis (RA or spondyloarthritis (SpA, both of which show similar indications. In this study, disease specific biomarkers were sought in blood samples from patients to facilitate objective diagnoses of FMS, and distinguish it from RA and SpA.Peripheral blood mononuclear cells (PBMCs from patients and healthy donors (HD were subjected to multicolor flow cytometric analysis. The percentage of mucosal-associated invariant T (MAIT cells in PBMCs and the mean fluorescent intensity (MFI of cell surface antigen expression in MAIT cells were analyzed.There was a decrease in the MAIT cell population in FMS, RA, and SpA compared with HD. Among the cell surface antigens in MAIT cells, three chemokine receptors, CCR4, CCR7, and CXCR1, a natural killer (NK receptor, NKp80, a signaling lymphocyte associated molecule (SLAM family, CD150, a degrunulation marker, CD107a, and a coreceptor, CD8β emerged as potential biomarkers for FMS to distinguish from HD. Additionally, a memory marker, CD44 and an inflammatory chemokine receptor, CXCR1 appeared possible markers for RA, while a homeostatic chemokine receptor, CXCR4 deserved for SpA to differentiate from FMS. Furthermore, the drug treatment interruption resulted in alternation of the expression of CCR4, CCR5, CXCR4, CD27, CD28, inducible costimulatory molecule (ICOS, CD127 (IL-7 receptor α, CD94, NKp80, an activation marker, CD69, an integrin family member, CD49d, and a dipeptidase, CD26, in FMS.Combined with the currently available

  10. Association of giant congenital melanocytic nevus, halo nevus and vitiligo in a 75-year-old patient Associação de nevo melanocítico congênito gigante, nevo halo e vitiligo. Relato de caso em paciente de 75 anos

    Directory of Open Access Journals (Sweden)

    Marina Leite da Silveira

    2012-04-01

    Full Text Available A giant congenital melanocytic nevus represents a rare condition. The halo phenomenon may be seen in congenital or acquired melanocytic nevi. In the literature, association of halo nevus and giant congenital melanocytic nevus is rare and the association of both with vitiligo even more rare. A 75-yearold woman at first consultation complained of a hyperchromic bluish-brown hairy macula on the lower back, buttocks and thighs present since birth and an achromic halo of onset three years ago. The histological features were consistent with congenital melanocytic nevus and halo nevus, respectively. After two years the patient developed achromic areas in normal skin, histologically consistent with vitiligo. The authors emphasize the rarity of this triple combination, the patient's age and the absence of malignant degeneration to date.Nevo melanocitico congênito gigante constitui uma condição rara. O fenômeno halo pode ser observado em nevos melanocíticos congênitos ou adquiridos. Na literatura a associação nevo halo e nevo melanocítico congênito gigante é rara e a associação de ambos com vitiligo ainda mais rara. Mulher de 75 anos que à primeira consulta apresentava mácula hipercrômica castanho-azulada pilosa na região lombar, nádegas e coxas desde o nascimento e halo acrômico de aparecimento há 3 anos. Os histológicos foram compatíveis com nevo melanocítico congênito e nevo halo respectivamente. Após dois anos evoluiu com áreas de acromia à distância, com histológico de vitiligo. Os autores ressaltam a raridade desta tripla associação; a idade da paciente e a ausência de degeneração maligna até o presente momento.

  11. B-cell directed therapies in antiphospholipid antibody syndrome--new directions based on murine and human data.

    Science.gov (United States)

    Khattri, Saakshi; Zandman-Goddard, Gisele; Peeva, Elena

    2012-08-01

    The increased awareness of the role of humoral immunophysiology in antiphospholipid syndrome (APS) has aroused interest in B cells as therapeutic targets in this disease. This paper reviews the literature on B cell directed therapies in human and experimental APS. The clinical data is limited to B cell depletion with rituximab and comprises case reports and case series. Murine studies include use of modulators of B cell function such as belimumab and abatacept. In both human and murine studies, B cell directed therapies appeared to have clinical and serologic beneficial effects including a decrease in the antiphospholipid antibody titers after treatment. Randomized controlled clinical trials are needed to determine whether B cell depletors and/or B cell modulators can be effective agents for treating patients with APS.

  12. A retrospective study on the characteristics of treating nevus of ota by 1064-nm q-switched neodymium-doped yttrium aluminum garnet laser

    Directory of Open Access Journals (Sweden)

    Yanting Liu

    2016-01-01

    Full Text Available Background: The Q-switched neodymium-doped yttrium aluminum garnet (QS Nd:YAG laser has a significant effect in treating nevus of Ota, but there is lack of a retrospective study about the characteristics of efficacy. Aims and Objectives: To retrospectively analyze the correlation between the clinical characteristics and efficacy, complications, recurrence of QS Nd:YAG laser in treating nevus of Ota. Materials and Methods: One hundred and seventy-one Chinese patients (144 female, 27 male of nevus of Ota were treated with the 1064-nm QS Nd:YAG laser. All cases were treated with fluencies of 4–8 J/cm2 and a spot size of 2–4 mm. Clinical photographs were taken before every treatment and patients were followed up by their clinicians. Results: One hundred and forty-five patients (84.8% acquired more than 75% improvement with an average of 4.6 sessions. The treatment effect has no significant correlation with sex (P > 0.05. The blue-black and brown lesions improved more than the light-brown (P < 0.05. Hyperpigmentation affected two (1.2% of the patients and hypopigmentation affected one patient (0.6%. No other adverse effect was observed. Recurrence was seen in two patients (1.2%. Conclusion: The 1064-nm QS Nd:YAG laser is effective with rare complications and recurrence in the treatment of nevus of Ota. The efficacy correlated with lesion color, which is meaningful to estimate the prognosis.

  13. Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndrome

    Science.gov (United States)

    de Montalembert, Mariane; Ribeil, Jean-Antoine; Brousse, Valentine; Guerci-Bresler, Agnes; Stamatoullas, Aspasia; Vannier, Jean-Pierre; Dumesnil, Cécile; Lahary, Agnès; Touati, Mohamed; Bouabdallah, Krimo; Cavazzana, Marina; Chauzit, Emmanuelle; Baptiste, Amandine; Lefebvre, Thibaud; Puy, Hervé; Elie, Caroline

    2017-01-01

    The risk and clinical significance of cardiac iron overload due to chronic transfusion varies with the underlying disease. Cardiac iron overload shortens the life expectancy of patients with thalassemia, whereas its effect is unclear in those with myelodysplastic syndromes (MDS). In patients with sickle cell anemia (SCA), iron does not seem to deposit quickly in the heart. Our primary objective was to assess through a multicentric study the prevalence of cardiac iron overload, defined as a cardiovascular magnetic resonance T2*8 ECs in the past year, and age older than 6 years. We included from 9 centers 20 patients with thalassemia, 41 with SCA, and 25 with MDS in 2012-2014. Erythrocytapharesis did not consistently prevent iron overload in patients with SCA. Cardiac iron overload was found in 3 (15%) patients with thalassemia, none with SCA, and 4 (16%) with MDS. The liver iron content (LIC) ranged from 10.4 to 15.2 mg/g dry weight, with no significant differences across groups (P = 0.29). Abnormal T2* was not significantly associated with any of the measures of transfusion or chelation. Ferritin levels showed a strong association with LIC. Non-transferrin-bound iron was high in the thalassemia and MDS groups but low in the SCA group (P<0.001). Hepcidin was low in thalassemia, normal in SCA, and markedly elevated in MDS (P<0.001). Two mechanisms may explain that iron deposition largely spares the heart in SCA: the high level of erythropoiesis recycles the iron and the chronic inflammation retains iron within the macrophages. Thalassemia, in contrast, is characterized by inefficient erythropoiesis, unable to handle free iron. Iron accumulation varies widely in MDS syndromes due to the competing influences of abnormal erythropoiesis, excess iron supply, and inflammation. PMID:28257476

  14. Molecular Mechanisms Regulating Impaired Neurogenesis of Fragile X Syndrome Human Embryonic Stem Cells

    Science.gov (United States)

    Telias, Michael; Mayshar, Yoav; Amit, Ami

    2015-01-01

    Fragile X syndrome (FXS) is the most common form of inherited cognitive impairment. It is caused by developmental inactivation of the FMR1 gene and the absence of its encoded protein FMRP, which plays pivotal roles in brain development and function. In FXS embryos with full FMR1 mutation, FMRP is expressed during early embryogenesis and is gradually downregulated at the third trimester of pregnancy. FX-human embryonic stem cells (FX-hESCs), derived from FX human blastocysts, demonstrate the same pattern of developmentally regulated FMR1 inactivation when subjected to in vitro neural differentiation (IVND). In this study, we used this in vitro human platform to explore the molecular mechanisms downstream to FMRP in the context of early human embryonic neurogenesis. Our results show a novel role for the SOX superfamily of transcription factors, specifically for SOX2 and SOX9, which could explain the reduced and delayed neurogenesis observed in FX cells. In addition, we assess in this study the “GSK3β theory of FXS” for the first time in a human-based model. We found no evidence for a pathological increase in GSK3β protein levels upon cellular loss of FMRP, in contrast to what was found in the brain of Fmr1 knockout mice. Our study adds novel data on potential downstream targets of FMRP and highlights the importance of the FX-hESC IVND system. PMID:26393806

  15. Apoptosis of endothelial progenitor cells in a metabolic syndrome experimental model

    Science.gov (United States)

    Lembo, Carina; Lopez-Aguilera, Francisco; Diez, Emiliano R.; Renna, Nicolás; Vazquez-Prieto, Marcela; Miatello, Roberto M.

    2012-01-01

    Aim: This study tests the hypothesis postulating that metabolic syndrome induced by chronic administration of fructose to spontaneously hypertensive rats (FFHR) generates impairment in vascular repair by endothelial progenitor cells (EPC). Materials and Methods: To characterize the vascular adverse environment present in this experimental model we measured: NAD(P)H oxidase activity, eNOS activity, presence of apoptosis in the arterial wall, all these parameters were most affected in the FFHR group. Also, we found decreased level and proliferative capacity of EPC measured by flow cytometry and colonies forming units assay in cultured cells, respectively, in both groups treated with fructose; FFHR (SHR fructose fed rats) and FFR (WKY fructose fed rats) compared with their controls; SHR and WKY. Results: The fructose-fed groups FFR and SHR also showed an incremented number of apoptotic (annexinV+/7AADdim) EPC measured by flow cytometry that returns to almost normal values after eliminating fructose administration. Conclusion: Our findings suggest that increased apoptosis levels of EPC generated in this experimental model could bein part the underlying cause for the impaired vascular repair by in EPC. PMID:23233774

  16. [Relapse of autoimmune hemolytic anemia in Evans syndrome after thymectomy for pure red cell aplasia].

    Science.gov (United States)

    Higuchi, Masakazu; Osaki, Koichi; Yamano, Yujiro

    2007-06-01

    A 81-year-old woman was referred to our hospital with pure red cell aplasia (PRCA) associated with a thymoma in May 2005. She had previously suffered from Evans syndrome which had been improved by prednisolone in 1999. She underwent a thymectomy, however her anemia subsequently got worse. Reticulocytopenia was noted and a marrow erythroid series was aplastic. Furthermore, both direct and indirect Coombs tests were positive, and the serum haptoglobin level was low. Based on these findings, the patient was diagnosed as having PRCA complicated with relapsed autoimmune hemolytic anemia (AIHA). The PRCA and AIHA were successfully treated with prednisolone and cyclosporine. To our knowledge, only one case of the PRCA complicated with AIHA after thymectomy has been reported. FoxP3 positive regulatory T-cells (Treg), which maintain immunological self-tolerance, were readily detectable in the excised thymoma. Thus, thymectomy resulted in removal of the Treg pool and might explain the autoimmune activation, believed to be one of the mechanisms of the post-thymectomy recurrence of the AIHA in this case.

  17. Nephrotic syndrome after allogeneic hematopoietic stem cell transplantation: etiology and pathogenesis.

    Science.gov (United States)

    Luo, Xiao-dan; Liu, Qi-fa; Zhang, Yu; Sun, Jing; Wang, Guo-bao; Fan, Zhi-ping; Yi, Zheng-shan; Ling, Yi-wen; Wei, Yong-qiang; Liu, Xiao-li; Xu, Bing

    2011-02-15

    In this study we investigated the etiology and pathogenesis of nephrotic syndrome (NS) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in 257 patients with hematopoietic malignancies who survived more than 2 months post allo-HSCT. Associations of NS with the conditioning regimen, graft versus host disease (GVHD), and other variables were analyzed. Pathologic features of the kidney, regulatory T cells (Tregs), interferon-γ (IFN-γ), and tumor necrosis factor-α (TNF-α) were studied. NS was identified in 9 patients. The number of Tregs at day+30, 60, 90, and 180 was lower in NS patients than non-NS patients (P=0.001, 0.001, 0.007, 0.003). Serum levels of IFN-γ and TNF-α were higher in NS patients (P=0.032, 0.001, respectively). NS post allo-HSCT was associated with the occurrence of chronic GVHD (P=0.02). NS post-HSCT is an immune disorder that may involve immune complex deposition, Th1 cytokines, and Tregs.

  18. Estimation of cell membrane properties and erythrocyte red-ox balance in patients with metabolic syndrome.

    Science.gov (United States)

    Kowalczyk, Edward; Kowalski, Jan; Błaszczyk, Jan; Gwoździński, Łukasz; Ciećwierz, Julita; Sienkiewicz, Monika

    2012-12-01

    Metabolic syndrome (MS) is associated with occurrence of the many cardiovascular risk factors such as atherogenic dyslipidemia, visceral fat distribution, arterial hypertension and pro-thrombotic and pro-inflammatory status. In our study the effect of disorders that appear in MS on red-ox balance and erythrocyte cell membrane properties were estimated. The study comprised 50 patients with diagnosed MS and in 25 healthy subjects. Content of thiobarbituric acid reactive substances (TBARS) and catalase, superoxide dismutase and glutathione peroxidase activity were estimated in red blood cells. Moreover, conformation status of membrane proteins, membrane fluidity and osmotic fragility were evaluated. MS was found to manifest: (1) the increase of the concentration of TBARS in erythrocytes with no statistically significant differences in antioxidant enzymes activity, (2) disorders in the structure of erythrocyte cytoskeleton proteins, (3) the increase in membrane lipids fluidity at the depth of 5th and 12th carbon atom of fatty acid hydrocarbon chain and significantly decreased fluidity at the depth of 16th carbon atom, (4) increased erythrocyte osmotic fragility.

  19. Primary Diffuse Large B-Cell Lymphoma of the Liver in a Patient with Sjogren Syndrome

    Directory of Open Access Journals (Sweden)

    Vadim Gorodetskiy

    2016-01-01

    Full Text Available Sjögren’s syndrome (SS has the highest incidence of malignant lymphoproliferative disorders transformation among autoimmune diseases. We present a case of extranodal high grade lymphoma of the liver in a 52-year-old patient with long history of SS. Lymphoma manifested with sharp significant pain in the right hypochondrium, weakness, and profuse night sweats. Contrast-enhanced computed tomography scan (CT-scan of the abdomen revealed multiple low density foci with homogeneous structure and clear contours in both lobes of the liver. Histologically, proliferation of medium sized lymphoma cells with round-oval and slightly irregular nuclei with fine chromatin was shown. Immunohistochemical and molecular features of the tumors allowed diagnosis of diffuse large B-cell lymphoma (DLBCL. To exclude secondary liver lesion by non-Hodgkin lymphoma, chest and small pelvis CT-scan, endoscopy of upper and lower gastrointestinal tract and study of bone marrow were performed. After 8 cycles of R-CHOP chemotherapy (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone, the complete remission was achieved, which persists after 45 months of follow-up. Primary hepatic lymphomas are extremely rare, and previously only low-grade hepatic lymphomas have been described in SS. To our knowledge, the patient described here represents the first reported case of DLBCL with primary liver involvement in SS.

  20. Expression of Interleukin- 13 inPeripheral Blood Mononuclear Cells from Patients with Nephrotic Syndrome

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Objective Nephrotic syndrome (NS) is a kind of renal diseases characterized mainly by proteinuria and hypoalbuminemia. The disturbance of cellular immunity plays a major role in the pathogenesis of NS. The change of interleukin (IL)-13 produced by Th2 cells was investigated in 50 children with NS. Methods All the patients were selected during their nephrotic stage and remission stage. The expression of IL-13 protein and mRNA was determined by ELISA and reverse transcription-polymerase chain reaction ( RT-PCR ) respectively. Results ①The production of IL-13 inphytoheamagglutinin (PHA)- stimulated monouuclear cells and the expression of IL-13 mRNA were siguificantly increased in patients in nephrotic stage as compared with controls. ②The expression of IL13 protein and mRNA in patients in remission stage was similar to that in the normal controls. ③Th_ere was no correlation between IL-13 and laboratory parameters. Conclusion The results suggest that the disturbance of cellulr immunity plays an important role in the pathogenesis of NS and they also demonstrate a protective role for IL-13 in the children uith NS.

  1. Efficacy of Topical Mesenchymal Stem Cell Therapy in the Treatment of Experimental Dry Eye Syndrome Model

    Directory of Open Access Journals (Sweden)

    Emrullah Beyazyıldız

    2014-01-01

    Full Text Available Purpose. The current study was set out to address the therapeutic efficacy of topically applied mesenchymal stem cells (MSCs on dry eye syndrome (DES induced by benzalkonium chloride (BAC in rats. Methods. Rats were divided into two groups just after establishment of DES. Eye drops containing either bromodeoxyuridine labeled MSCs (n=9 or phosphate buffer solution (n=7 were topically applied once daily for one week. Schirmer test, break-up time score, ocular surface evaluation tests, and corneal inflammatory index scoring tests were applied to all rats at baseline and after treatment. All rats were sacrificed after one week for histological and electron microscopic analysis. Results. Mean aqueous tear volume and tear film stability were significantly increased in rats treated with MSCs (P<0.05. Infiltration of bromodeoxyuridine labeled MSCs into the meibomian glands and conjunctival epithelium was observed in MSCs treated rats. Increased number of secretory granules and number of goblet cells were observed in MSCs treated rats. Conclusion. Topical application of MSCs could be a safe and effective method for the treatment of DES and could potentially be used for further clinical research studies.

  2. Elevated white cell count in acute coronary syndromes: relationship to variants in inflammatory and thrombotic genes

    Directory of Open Access Journals (Sweden)

    Cannon Christopher P

    2004-06-01

    Full Text Available Abstract Background Elevated white blood cell counts (WBC in acute coronary syndromes (ACS increase the risk of recurrent events, but it is not known if this is exacerbated by pro-inflammatory factors. We sought to identify whether pro-inflammatory genetic variants contributed to alterations in WBC and C-reactive protein (CRP in an ACS population. Methods WBC and genotype of interleukin 6 (IL-6 G-174C and of interleukin-1 receptor antagonist (IL1RN intronic repeat polymorphism were investigated in 732 Caucasian patients with ACS in the OPUS-TIMI-16 trial. Samples for measurement of WBC and inflammatory factors were taken at baseline, i.e. Within 72 hours of an acute myocardial infarction or an unstable angina event. Results An increased white blood cell count (WBC was associated with an increased C-reactive protein (r = 0.23, p 3 (95% CI = -0.41, 0.77, and -0.03/mm3 (95% CI = -0.55, 0.86 for IL1RN. Moreover, the composite endpoint was not significantly affected by an interaction between WBC and the IL1 (p = 0.61 or IL6 (p = 0.48 genotype. Conclusions Cytokine pro-inflammatory genetic variants do not influence the increased inflammatory profile of ACS patients.

  3. The association between Lambert–Eaton myasthenic syndrome and small cell lung carcinoma

    Directory of Open Access Journals (Sweden)

    Briggs SEW

    2013-05-01

    Full Text Available Sarah EW Briggs,1 Paul Gozzard,2 Denis C Talbot31Department of Oncology, Oxford University Hospitals Trust, Churchill Hospital, Oxford, UK; 2Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford UK; 3Department of Oncology, Oxford University Hospitals Trust, Churchill Hospital, Oxford, UKAbstract: Lambert–Eaton myasthenic syndrome (LEMS is an autoimmune disorder mediated by autoantibodies to voltage-gated calcium channels. The disorder is diagnosed clinically on the basis of a triad of symptoms (proximal muscle weakness, hyporeflexia, and autonomic disturbance, supported by electrophysiological findings and the presence of autoantibodies. Between 40% and 62% of patients diagnosed with LEMS are found to have small-cell lung cancer (SCLC, almost all of whom develop neurological symptoms before their cancer is diagnosed. Prompt identification of LEMS and appropriate screening for SCLC is key to improving the outcome of both conditions. Here we review the pathophysiology and clinical management of LEMS, focusing particularly on the relationship with SCLC.Keywords: Lambert–Eaton, small-cell lung cancer, autoimmune

  4. Automated screening for myelodysplastic syndromes through analysis of complete blood count and cell population data parameters.

    Science.gov (United States)

    Raess, Philipp W; van de Geijn, Gert-Jan M; Njo, Tjin L; Klop, Boudewijn; Sukhachev, Dmitry; Wertheim, Gerald; McAleer, Tom; Master, Stephen R; Bagg, Adam

    2014-04-01

    The diagnosis of myelodysplastic syndromes (MDS) requires a high clinical index of suspicion to prompt bone marrow studies as well as subjective assessment of dysplastic morphology. We sought to determine if data collected by automated hematology analyzers during complete blood count (CBC) analysis might help to identify MDS in a routine clinical setting. We collected CBC parameters (including those for research use only and cell population data) and demographic information in a large (>5,000), unselected sequential cohort of outpatients. The cohort was divided into independent training and test groups to develop and validate a random forest classifier that identifies MDS. The classifier effectively identified MDS and had a receiver operating characteristic area under the curve (AUC) of 0.942. Platelet distribution width and the standard deviation of red blood cell distribution width were the most discriminating variables within the classifier. Additionally, a similar classifier was validated with an additional, independent set of >200 patients from a second institution with an AUC of 0.93. This retrospective study demonstrates the feasibility of identifying MDS in an unselected outpatient population using data routinely collected during CBC analysis with a classifier that has been validated using two independent data sets from different institutions.

  5. Therapy-related acute myeloid leukemia and myelodysplastic syndrome after hematopoietic cell transplantation for lymphoma.

    Science.gov (United States)

    Yamasaki, S; Suzuki, R; Hatano, K; Fukushima, K; Iida, H; Morishima, S; Suehiro, Y; Fukuda, T; Uchida, N; Uchiyama, H; Ikeda, H; Yokota, A; Tsukasaki, K; Yamaguchi, H; Kuroda, J; Nakamae, H; Adachi, Y; Matsuoka, K-I; Nakamura, Y; Atsuta, Y; Suzumiya, J

    2017-04-03

    Therapy-related acute myeloid leukemia and myelodysplastic syndrome (t-AML/MDS) represent severe late effects in patients receiving hematopoietic cell transplantation (HCT) for lymphoma. The choice between high-dose therapy with autologous HCT and allogeneic HCT with reduced-intensity conditioning remains controversial in patients with relapsed lymphoma. We retrospectively analyzed incidence and risk factors for the development of t-AML/MDS in lymphoma patients treated with autologous or allogeneic HCT. A total of 13 810 lymphoma patients who received autologous (n=9963) or allogeneic (n=3847) HCT between 1985 and 2012 were considered. At a median overall survival (OS) of 52 and 46 months in autologous and allogeneic HCT groups, respectively, lymphoma patients receiving autologous HCT (1.38% at 3 years after autologous HCT) had a significant risk for developing t-AML/MDS compared to allogeneic HCT (0.37% at 3 years after allogeneic HCT, Pafter autologous and allogeneic HCT were high-stage risk at HCT (P=0.04) or secondary malignancies (P<0.001) and receiving cord blood stem cell (P=0.03) or involved field radiotherapy (P=0.002), respectively. Strategies that carefully select lymphoma patients for autologous HCT, by excluding lymphoma patients with high-stage risk at HCT, may allow the identification of individual lymphoma patients at particular high risk for t-AML/MDS.Bone Marrow Transplantation advance online publication, 3 April 2017; doi:10.1038/bmt.2017.52.

  6. Implications of Von Hippel-Lindau Syndrome and Renal Cell Carcinoma

    Science.gov (United States)

    Ashouri, Kenan; Mohseni, Sophia; Tourtelot, John; Sharma, Pranav

    2015-01-01

    Von Hippel-Lindau syndrome (VHLS) is a rare hereditary neoplastic disorder caused by mutations in the vhl gene leading to the development of tumors in several organs including the central nervous system, pancreas, kidneys, and reproductive organs. Manifestations of VHLS can present at different ages based on the affected organ and subclass of disease. In the subclasses of VHLS that cause renal disease, renal involvement typically begins closer to the end of the second decade of life and can present in different ways ranging from simple cystic lesions to solid tumors. Mutations in vhl are most often associated with clear cell renal carcinoma, the most common type of renal cancer, and also play a major role in sporadic cases of clear cell renal carcinoma. The recurrent, multifocal nature of this disease presents difficult challenges in the long-term management of patients with VHLS. Optimization of renal function warrants the use of several different approaches common to the management of renal carcinoma such as nephron sparing surgery, enucleation, ablation, and targeted therapies. In VHLS, renal lesions of 3 cm or bigger are considered to have metastatic potential and even small lesions often harbor malignancy. Many of the aspects of management revolve around optimizing both oncologic outcome and long-term renal function. As new surgical strategies and targeted therapies develop, the management of this complex disease evolves. This review will discuss the key aspects of the current management of VHLS.

  7. Implications of Von Hippel-Lindau Syndrome and Renal Cell Carcinoma

    Directory of Open Access Journals (Sweden)

    Kenan Ashouri

    2015-09-01

    Full Text Available Von Hippel-Lindau syndrome (VHLS is a rare hereditary neoplastic disorder caused by mutations in the vhl gene leading to the development of tumors in several organs including the central nervous system, pancreas, kidneys, and reproductive organs. Manifestations of VHLS can present at different ages based on the affected organ and subclass of disease. In the subclasses of VHLS that cause renal disease, renal involvement typically begins closer to the end of the second decade of life and can present in different ways ranging from simple cystic lesions to solid tumors. Mutations in vhl are most often associated with clear cell renal carcinoma, the most common type of renal cancer, and also play a major role in sporadic cases of clear cell renal carcinoma. The recurrent, multifocal nature of this disease presents difficult challenges in the long-term management of patients with VHLS. Optimization of renal function warrants the use of several different approaches common to the management of renal carcinoma such as nephron sparing surgery, enucleation, ablation, and targeted therapies. In VHLS, renal lesions of 3 cm or bigger are considered to have metastatic potential and even small lesions often harbor malignancy. Many of the aspects of management revolve around optimizing both oncologic outcome and long-term renal function. As new surgical strategies and targeted therapies develop, the management of this complex disease evolves.  This review will discuss the key aspects of the current management of VHLS.

  8. Cell-mediated immune response of synovial fluid lymphocytes to ureaplasma antigen in Reiter's syndrome

    Directory of Open Access Journals (Sweden)

    Pavlica Ljiljana

    2003-01-01

    Full Text Available INTRODUCTION Reiter's syndrome (RS is an seronegative arthritis that occurs after urogenital or enteric infection which in addition with occular and/or mucocutaneous manifestations presents complete form of disease. According to previous understanding arthritis in the RS is the reactive one, which means that it is impossible to isolate its causative agent. However, there are the more and more authors suggesting that arthritis in the urogenital form of disease is caused by the infective agent in the affected joint. This suggestion is based on numerous studies on the presence of Chlmaydia trachomatis and Ureaplasma urealyticum in the inflamed joint by using new diagnostic methods in molecular biology published in the recent literature [1-3]. Besides, numerous studies of the humoral and cell-mediated immune response to "triggering" bacteria in the affected joint have supported previous suggestions [4-7]. Aim of the study was to determine whether synovial fluid T-cells specifically recognize the "triggering" bacteria presumably responsible for the Reiter's syndrome. METHOD The 3H-thymidine uptake procedure for measuring lymphocyte responses was applied to lymphocytes derived concurrently from synovial fluid (SF and from peripheral blood (PB [8]. Ureaplasma antigen and mitogen PHA stimulated lymphocytes in 24 RS patients (24 PB samples, 9 SF samples and the results were compared with those found in 10 patients with rheumatoid arthritis (RA (10 PB samples, 5 SF samples. Preparation of ureaplasma antigen. Ureaplasma was cultured on cell-free liquid medium [9]. Sample of 8 ml was heat-inactivated for 15 minutes at 601C and permanently stirred with magnetic mixer. The sample was centrifuged at 2000 x g for 40 minutes and than deposits carefully carried to other sterile glass tubes (Corex and recentrifuged at 9000 x g for 30 minutes. The deposit was washed 3 times in sterile 0.9% NaCl, and final sediment was resuspended in 1.2 ml sterile 0.9% Na

  9. Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.

    Science.gov (United States)

    Rodrigues, A L; Carvalho, A; Cabral, R; Carneiro, V; Gilardi, P; Duarte, C P; Puente-Prieto, J; Santos, P; Mota-Vieira, L

    2014-07-25

    Gorlin-Goltz syndrome, or nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant disorder caused by mutations in the PTCH1 gene and shows a high level of penetrance and variable expressivity. The syndrome is characterized by developmental abnormalities or neoplasms and is diagnosed with 2 major criteria, or with 1 major and 2 minor criteria. Here, we report a new clinical manifestation associated with this syndrome in a boy affected by NBCCS who had congenital orbital teratoma at birth. Later, at the age of 15 years, he presented with 4 major and 4 minor criteria of NBCCS, including multiple basal cell carcinoma and 2 odontogenic keratocysts of the jaw, both confirmed by histology, more than 5 palmar pits, calcification of the cerebral falx, extensive meningeal calcifications, macrocephaly, hypertelorism, frontal bosses, and kyphoscoliosis. PTCH1 mutation analysis revealed the heterozygous germline mutation c.290dupA. This mutation generated a frameshift within exon 2 and an early premature stop codon (p.Asn97LysfsX43), predicting a truncated protein with complete loss of function. Identification of this mutation is useful for genetic counseling. Although the clinical symptoms are well-known, our case contributes to the understanding of phenotypic variability in NBCCS, highlighting that PTCH1 mutations cannot be used for predicting disease burden and reinforces the need of a multidisciplinary team in the diagnosis, treatment, and follow-up of NBCCS patients.

  10. Downregulation of the Werner syndrome protein induces a metabolic shift that compromises redox homeostasis and limits proliferation of cancer cells.

    Science.gov (United States)

    Li, Baomin; Iglesias-Pedraz, Juan Manuel; Chen, Leng-Ying; Yin, Fei; Cadenas, Enrique; Reddy, Sita; Comai, Lucio

    2014-04-01

    The Werner syndrome protein (WRN) is a nuclear protein required for cell growth and proliferation. Loss-of-function mutations in the Werner syndrome gene are associated with the premature onset of age-related diseases. How loss of WRN limits cell proliferation and induces replicative senescence is poorly understood. Here, we show that WRN depletion leads to a striking metabolic shift that coordinately weakens the pathways that generate reducing equivalents for detoxification of reactive oxygen species and increases mitochondrial respiration. In cancer cells, this metabolic shift counteracts the Warburg effect, a defining characteristic of many malignant cells, resulting in altered redox balance and accumulation of oxidative DNA damage that inhibits cell proliferation and induces a senescence-like phenotype. Consistent with these findings, supplementation with antioxidant rescues at least in part cell proliferation and decreases senescence in WRN-knockdown cancer cells. These results demonstrate that WRN plays a critical role in cancer cell proliferation by contributing to the Warburg effect and preventing metabolic stress.

  11. Lymph node involvement by mycosis fungoides and Sézary syndrome mimicking angioimmunoblastic T-cell lymphoma.

    Science.gov (United States)

    LeBlanc, Robert E; Lefterova, Martina I; Suarez, Carlos J; Tavallaee, Mahkam; Kim, Youn H; Schrijver, Iris; Kim, Jinah; Gratzinger, Dita

    2015-09-01

    Clinical management of cutaneous T-cell lymphoma (CTCL) and angioimmunoblastic T-cell lymphoma (AITL) differs markedly. Diagnostic distinction is critical. Herein, we describe a series of 4 patients with clinically, molecularly, and histopathologically annotated mycosis fungoides or Sézary syndrome whose nodal disease mimicked AITL. The patients otherwise exhibited classic clinical manifestations of mycosis fungoides/Sézary syndrome preceding the onset of lymphadenopathy by 1 to 5 years. Skin biopsies revealed epidermotropic infiltrates characteristic of CTCL. Lymph node biopsies revealed dense CD4+ T-cell infiltrates that coexpressed follicular helper T-cell markers and were accompanied by proliferations of high endothelial venules and arborizing CD21+ follicular dendritic cell networks. Two patients had T-cell receptor gene rearrangement studies performed on their skin, lymph node, and peripheral blood demonstrating identical polymerase chain reaction clones in all 3 tissues. A small secondary clonal B-cell population was present in 1 patient that mimicked the B-cell proliferations known to accompany AITL and persisted on successive nodal biopsies over several years. This latter phenomenon has not previously been described in CTCL. The potential for patients to be misdiagnosed with AITL for lack of consideration of advanced-stage CTCL with nodal involvement underscores the necessity of information sharing among the various pathologists and clinicians involved in the care of each patient.

  12. 1064 nm Q switched Nd: YAG laser treatment of nevus of Ota: An Indian open label prospective study of 50 patients

    Directory of Open Access Journals (Sweden)

    Hemanta Kumar Kar

    2011-01-01

    Full Text Available Background: Nevus of Ota is very common in Asians. Estimated male to female ratio is 1:4.8. Patients seek treatment early in life due to psychological trauma and cosmetic disfigurement. The creation of high power, short pulse Q switched lasers has recently provided tools for considerable therapeutic advances in the treatment of dermal pigmented lesions. Aims: To determine the efficacy and side-effect profile of Q switched Nd:YAG Laser (QSNYL in fifty Indian patients. Methods: Fifty patients of nevus of Ota underwent multiple treatments (average 5 sessions at monthly intervals carried out over a period of 2 years with QSNYL (Med-lite C6. Of the 50 patients, 2 were males; and the rest were females. Skin types treated included phototype IV and V. The response after subsequent treatments was documented through serial photographs that were taken before and after every treatment session. Response to the treatment was graded based on quartile grading scale. Results: Near total improvement was seen in 8%, marked improvement in 22%, moderate improvement in 38% and 32% patients reported less than 25% clearing of the lesion. All patients reported some improvement. Transient postinflammatory hyperpigmentation was observed in 4 (8% patients, which cleared with use of sunscreens and bleaching agents within 2 months. No textural change or scarring was observed in any patient. Conclusions: QSNYL is an easy-to-perform and effective treatment in cases of nevus of Ota in Indian patients with few side effects.

  13. 太田痣的激光治疗进展%Update of laser in the treatment of nevus of Ota

    Institute of Scientific and Technical Information of China (English)

    张凯; 姬瑜

    2015-01-01

    Since 1990 s, Q-switched and alexandrite laser has been used to treat nevus of Ota. In the last decades, with the development of laser and the update of treatment concept and equipment, the picosecond laser is used to treat nevus of Ota. This review summarizes the development of laser in the treatment of nevus of Ota.%自上个世纪90年代Q开关1064 nm Nd:YAG激光和755 nm翠绿宝石激光等开始应用于太田痣的治疗,经过近20年的发展,激光治疗的方法逐渐成熟,且治疗理念和治疗设备不断更新,新型的皮秒激光器被用于太田痣的治疗。本文就激光治疗太田痣的进展作一综述。

  14. Nevo melanocítico congénito gigante: presentación de tres casos Giants congenital melanocytic nevus: Report of three cases

    Directory of Open Access Journals (Sweden)

    V Estrella

    Full Text Available Los Nevos Melanocíticos Congénitos (NMC son lesiones pigmentarias, que pueden aparecer en el nacimiento, aunque hay casos comunicados hasta el primer año de vida (Nevo Melanocítico Congénito Tardío. Presentan ciertas características clínicas y evolutivas de gran importancia: el compromiso estético de las formas gigantes, la asociación con melanocitosis meníngea y su transformación maligna de la lesión cutánea o meníngea. Presentamos tres casos de nevos melanocíticos congénitos gigantes. Cabe destacar, que el objetivo de este artículo es realizar una revisión del tema, orientar al seguimiento y control de los mismos y destacar la dificultad para su tratamiento debido a su gran tamaño.The Congenital Melanocytic Nevus are lesions melanocytic pigmented. Already apparent at birth but there are cases reported to the first year of life (Late Congenital Melanocytic Nevus. Certain features and evolution clinics that are important: the great compromise of aesthetic forms giant, meningeal melanocitosis association and its malignant transformation. We present three cases of Giants Congenital Melanocytic Nevus. It should be noted, that the purpose of this article is a review of the issue and guide the monitoring and control of them and point out the difficult treatment.

  15. Prognostic Limitations of Donor T Cell Chimerism after Myeloablative Allogeneic Stem Cell Transplantation for Acute Myeloid Leukemia and Myelodysplastic Syndromes.

    Science.gov (United States)

    Wong, Eric; Mason, Kate; Collins, Jenny; Hockridge, Barbara; Boyd, Janis; Gorelik, Alexandra; Szer, Jeffrey; Ritchie, David S

    2017-02-06

    Donor T cell chimerism is associated with relapse outcomes after allogeneic stem cell transplantation (alloSCT) for acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). However, measures of statistical association do not adequately assess the performance of a prognostic biomarker, which is best characterized by its sensitivity and specificity for the chosen outcome. We analyzed donor T cell chimerism results at day 100 (D100chim) after myeloablative alloSCT for AML or MDS in 103 patients and determined its sensitivity and specificity for relapse-free survival at 6 months (RFS6) and 12 months (RFS12) post-alloSCT. The area under the receiver operating characteristic curve for RFS6 was .68, demonstrating only modest utility as a predictive biomarker, although this was greater than RFS12 at .62. Using a D100chim threshold of 65%, the specificity for RFS6 was 96.6%; however, sensitivity was poor at 26.7%. This equated to a negative predictive value of 88.5% and positive predictive value of 57.1%. Changing the threshold for D100chim to 75% or 85% modestly improved the sensitivity of D100chim for RFS6; however, this was at the expense of specificity. D100chim is specific but lacks sensitivity as a prognostic biomarker of early RFS after myeloablative alloSCT for AML or MDS. Caution is required when using D100chim to guide treatment decisions including immunologic manipulation, which may expose patients to unwarranted graft-versus-host disease.

  16. [White blood cell lysis syndrome after autologous peripheral blood stem cell transplantation in the treatment of renal AL amyloidosis. Case report].

    Science.gov (United States)

    Gatica, Antonio; Bertin, Pablo; Tagle, Rodrigo

    2006-06-01

    The treatment of AL amyloidosis was not successful until the advent of myeloablative chemotherapy consisting of high-dose intravenous melphalan followed by autologous peripheral blood stem cell transplantation. This new treatment has achieved better survival rates and, remarkably, it has obtained complete remission. Among patients with renal involvement, achievement of a complete hematological response was associated with a 50% reduction in proteinuria and stable creatinine clearance in more than 2/3 of patients. Despite of these excellent results, this new therapy is associated with significant toxicity, including the development of acute renal failure due to white blood cell lysis syndrome. We report a 59 year-old female with a nephrotic syndrome due to primary amyloidosis successfully treated autologous stem cell transplantation who developed acute renal failure caused by white blood cell lysis syndrome. The patient required treatment with granulocytic colony stimulating factor and intermittent hemofiltration and was discharged 23 days after melphalan administration with a satisfactory renal function and white blood cell count. After one year of follow up, she maintains a good glomerular filtration rate, a proteinuria of less than, 1 g/day and normal hematological values.

  17. The role of nibrin in doxorubicin-induced apoptosis and cell senescence in Nijmegen Breakage Syndrome patients lymphocytes.

    Directory of Open Access Journals (Sweden)

    Olga Alster

    Full Text Available Nibrin plays an important role in the DNA damage response (DDR and DNA repair. DDR is a crucial signaling pathway in apoptosis and senescence. To verify whether truncated nibrin (p70, causing Nijmegen Breakage Syndrome (NBS, is involved in DDR and cell fate upon DNA damage, we used two (S4 and S3R spontaneously immortalized T cell lines from NBS patients, with the founding mutation and a control cell line (L5. S4 and S3R cells have the same level of p70 nibrin, however p70 from S4 cells was able to form more complexes with ATM and BRCA1. Doxorubicin-induced DDR followed by cell senescence could only be observed in L5 and S4 cells, but not in the S3R ones. Furthermore the S3R cells only underwent cell death, but not senescence after doxorubicin treatment. In contrary to doxorubicin treatment, cells from all three cell lines were able to activate the DDR pathway after being exposed to γ-radiation. Downregulation of nibrin in normal human vascular smooth muscle cells (VSMCs did not prevent the activation of DDR and induction of senescence. Our results indicate that a substantially reduced level of nibrin or its truncated p70 form is sufficient to induce DNA-damage dependent senescence in VSMCs and S4 cells, respectively. In doxorubicin-treated S3R cells DDR activation was severely impaired, thus preventing the induction of senescence.

  18. Wiskott-Aldrich syndrome protein (WASP) and N-WASP are critical for peripheral B-cell development and function

    Science.gov (United States)

    Dahlberg, Carin; Baptista, Marisa; Moran, Christopher J.; Detre, Cynthia; Keszei, Marton; Eston, Michelle A.; Alt, Frederick W.; Terhorst, Cox; Notarangelo, Luigi D.

    2012-01-01

    The Wiskott-Aldrich syndrome protein (WASP) is a key cytoskeletal regulator of hematopoietic cells. Although WASP-knockout (WKO) mice have aberrant B-cell cytoskeletal responses, B-cell development is relatively normal. We hypothesized that N-WASP, a ubiquitously expressed homolog of WASP, may serve some redundant functions with WASP in B cells. In the present study, we generated mice lacking WASP and N-WASP in B cells (conditional double knockout [cDKO] B cells) and show that cDKO mice had decreased numbers of follicular and marginal zone B cells in the spleen. Receptor-induced activation of cDKO B cells led to normal proliferation but a marked reduction of spreading compared with wild-type and WKO B cells. Whereas WKO B cells showed decreased migration in vitro and homing in vivo compared with wild-type cells, cDKO B cells showed an even more pronounced decrease in the migratory response in vivo. After injection of 2,4,6-trinitrophenol (TNP)–Ficoll, cDKO B cells had reduced antigen uptake in the splenic marginal zone. Despite high basal serum IgM, cDKO mice mounted a reduced immune response to the T cell–independent antigen TNP-Ficoll and to the T cell–dependent antigen TNP–keyhole limpet hemocyanin. Our results reveal that the combined activity of WASP and N-WASP is required for peripheral B-cell development and function. PMID:22411869

  19. A review of Rett syndrome (RTT) with induced pluripotent stem cells

    Science.gov (United States)

    Dhivya, Venkatesan; Gomathi, Mohan; Mohanadevi, Subramaniam; Venkatesh, Balasubramanian; Geetha, Bharathi

    2016-01-01

    Human induced pluripotent stem cells (hiPSCs) are pluripotent stem cells generated from somatic cells by the introduction of a combination of pluripotency-associated genes such as OCT4, SOX2, along with either KLF4 and c-MYC or NANOG and LIN28 via retroviral or lentiviral vectors. Most importantly, hiPSCs are similar to human embryonic stem cells (hESCs) functionally as they are pluripotent and can potentially differentiate into any desired cell type when provided with the appropriate cues, but do not have the ethical issues surrounding hESCs. For these reasons, hiPSCs have huge potential in translational medicine such as disease modeling, drug screening, and cellular therapy. Indeed, patient-specific hiPSCs have been generated for a multitude of diseases, including many with a neurological basis, in which disease phenotypes have been recapitulated in vitro and proof-of-principle drug screening has been performed. As the techniques for generating hiPSCs are refined and these cells become a more widely used tool for understanding brain development, the insights they produce must be understood in the context of the greater complexity of the human genome and the human brain. Disease models using iPS from Rett syndrome (RTT) patient’s fibroblasts have opened up a new avenue of drug discovery for therapeutic treatment of RTT. The analysis of X chromosome inactivation (XCI) upon differentiation of RTT-hiPSCs into neurons will be critical to conclusively demonstrate the isolation of pre-XCI RTT-hiPSCs in comparison to post-XCI RTT-hiPSCs. The current review projects on iPSC studies in RTT as well as XCI in hiPSC were it suggests for screening new potential therapeutic targets for RTT in future for the benefit of RTT patients. In conclusion, patient-specific drug screening might be feasible and would be particularly helpful in disorders where patients frequently have to try multiple drugs before finding a regimen that works. PMID:27777941

  20. Transformation of Sézary syndrome into CD30+ anaplastic large T-cell lymphoma after alemtuzumab therapy with evidence of clonal unity.

    Science.gov (United States)

    Nevet, Mariela Judith; Zuckerman, Tsila; Sahar, Dvora; Bergman, Reuven

    2015-01-01

    Alemtuzumab is a humanized mouse antibody targeting the CD52 cell surface, which has been effective in patients with advanced stage mycosis fungoides (MF) including erythrodermic MF and Sézary syndrome. There are a few descriptions of large cell transformation after its administration. A young patient with an acute onset of Sézary syndrome treated initially unsuccessfully with fludarabine and cyclophosphamide and later on successfully with alemtuzumab has been described. Three weeks after the beginning of therapy, however, she developed transformed T-cell lymphoma indistinguishable from CD30 anaplastic large-cell lymphoma. After bone marrow transplantation, the transformed CD30 cutaneous T-cell lymphoma recurred as a transformed CD30 plaque MF. All 3 types of lesions showed the same T-cell receptor clonal gene rearrangement, which supports the notion that Sézary syndrome, CD30 anaplastic large-cell lymphoma, and MF are interrelated.

  1. Fractalkine restores the decreased expression of StAR and progesterone in granulosa cells from patients with polycystic ovary syndrome.

    Science.gov (United States)

    Huang, Shuo; Pang, Yanli; Yan, Jie; Lin, Shengli; Zhao, Yue; Lei, Li; Yan, Liying; Li, Rong; Ma, Caihong; Qiao, Jie

    2016-07-08

    Low progesterone levels are associated with luteal phase deficiency in women with polycystic ovary syndrome (PCOS). The mechanisms regulating progesterone biosynthesis in the granulosa cells from women with PCOS is largely unknown. Fractalkine is expressed in human ovaries, and is reported to regulate progesterone production in granulosa cells of healthy women. In the current study, we aimed to examine the role of fractalkine in women with PCOS. Reduced fractalkine levels were found in follicular fluid and granulosa cells, accompanied by decreased progesterone production and reduced steroidogenic acute regulatory protein (StAR) expression in the granulosa cells of patients with PCOS. Administration of fractalkine reversed the inhibition of progesterone and StAR expression. The mechanism mediating these effects may be associated with the inhibition of ERK activity in the granulosa cells from women with PCOS. Our findings revealed that fractalkine regulated steroidogenesis in follicular granulosa cells of women with PCOS.

  2. Stathmin 1 is involved in the highly proliferative phenotype of high-risk myelodysplastic syndromes and acute leukemia cells.

    Science.gov (United States)

    Machado-Neto, João Agostinho; de Melo Campos, Paula; Favaro, Patricia; Lazarini, Mariana; Lorand-Metze, Irene; Costa, Fernando Ferreira; Olalla Saad, Sara Teresinha; Traina, Fabiola

    2014-02-01

    Stathmin 1 is an important cytoplasmic microtubule-destabilizing protein that plays critical roles in proliferation and accurate chromosome segregation through regulation of microtubule dynamics. High levels of Stathmin 1 expression have been reported in leukemia and solid tumors. However, Stathmin 1 has not been studied in myelodysplastic syndrome cells. We, herein, report that significantly higher Stathmin 1 levels were observed in proliferating hematopoietic cells, in high-risk MDS and acute leukemia cells. In addition, Stathmin 1 silencing in U937 and Namalwa leukemia cells reduced cell proliferation and clonogenicity. Our data suggest that Stathmin 1 expression may be related to the highly proliferative phenotype of hematopoietic cells and add new insights into the participation of Stathmin 1 in hematological malignancies.

  3. Fractalkine restores the decreased expression of StAR and progesterone in granulosa cells from patients with polycystic ovary syndrome

    Science.gov (United States)

    Huang, Shuo; Pang, Yanli; Yan, Jie; Lin, Shengli; Zhao, Yue; Lei, Li; Yan, Liying; Li, Rong; Ma, Caihong; Qiao, Jie

    2016-01-01

    Low progesterone levels are associated with luteal phase deficiency in women with polycystic ovary syndrome (PCOS). The mechanisms regulating progesterone biosynthesis in the granulosa cells from women with PCOS is largely unknown. Fractalkine is expressed in human ovaries, and is reported to regulate progesterone production in granulosa cells of healthy women. In the current study, we aimed to examine the role of fractalkine in women with PCOS. Reduced fractalkine levels were found in follicular fluid and granulosa cells, accompanied by decreased progesterone production and reduced steroidogenic acute regulatory protein (StAR) expression in the granulosa cells of patients with PCOS. Administration of fractalkine reversed the inhibition of progesterone and StAR expression. The mechanism mediating these effects may be associated with the inhibition of ERK activity in the granulosa cells from women with PCOS. Our findings revealed that fractalkine regulated steroidogenesis in follicular granulosa cells of women with PCOS. PMID:27386819

  4. A case of Fanconi syndrome accompanied by crystal depositions in tubular cells in a patient with multiple myeloma

    Directory of Open Access Journals (Sweden)

    Do Hee Kim

    2014-06-01

    Full Text Available Fanconi syndrome (FS is a rare condition that is characterized by defects in the proximal tubular function. A 48-year-old woman was admitted for evaluation of proteinuria. The patient showed normal anion gap acidosis, normoglycemic glycosuria, hypophosphatemia, and hypouricemia. Thus, her condition was compatible with FS. The M peak was found behind the beta globulin region in urine protein electrophoresis. Upon bone marrow examination, we found that 24% of cells were CD138+ plasma cells with kappa restriction. From a kidney biopsy, we found crystalline inclusions within proximal tubular epithelial cells. Thereafter, she was diagnosed with FS accompanied by multiple myeloma. The patient received chemotherapy and autologous stem cell transplantation, and obtained very good partial hematologic response. However, proximal tubular dysfunction was persistent until 1 year after autologous stem cell transplantation. In short, we report a case of FS accompanied by multiple myeloma, demonstrating crystalline inclusion in proximal tubular cells on kidney biopsy.

  5. Gastromegaly infiltrated with plasma cells:a new feature of organomegaly in patients with POEMS syndrome

    Institute of Scientific and Technical Information of China (English)

    XIE Wei-lin; GUAN Jian-long; HAN Xing-hai; MA Da-lie; JIN Zhen-dong

    2010-01-01

    @@ Organomegaly is a major component of POEMS syndrome (an acronym of polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes), which is a rare multisystem disorder of unknown pathogenesis.

  6. Evidence of T-cell mediated neuronal injury in stiff-person syndrome with anti-amphiphysin antibodies.

    Science.gov (United States)

    Poh, Mervyn Q W; Simon, Neil G; Buckland, Michael E; Salisbury, Elizabeth; Watson, Shaun

    2014-02-15

    Paraneoplastic stiff-person syndrome (SPS) has been associated with antibodies against amphiphysin. Current evidence supports a pathogenic role for anti-amphiphysin antibodies. A 74-year-old female was diagnosed with amphiphysin-associated paraneoplastic stiff-person syndrome and associated encephalomyelitis. She had initial response to IVIG, however her symptoms worsened after two months and were resistant to further treatment. Subsequently the patient died and a post-mortem was performed. Neuropathology revealed perivascular and parenchymal lymphocytic infiltrates, with neuronophagia mediated by CD8+ T cells and microglia in brainstem, spinal cord, and mesial temporal lobe structures. These findings suggest a pathogenic role of cytotoxic CD8+ T-cells, with potential implication for therapy of future patients.

  7. Thoracic air-leakage syndrome in allogeneic stem cell transplant recipients as a late complication of chronic graft-versus-host disease: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Park, Jae Wook; Kim, Song Soo; Jo, Daeg Yeon; Yun, Hwan Jung; Lee, Hyo Jin; Kim, Jin Hwan [Chungnam National University Hospital, Chungnam National University School of Medicine, Daejeon (Korea, Republic of)

    2016-08-15

    Air-leakage syndrome associated with graft-versus-host disease (GVHD) is a rare complication, but it is also reported as an independent predictor of a worse survival rate after stem cell transplantation. We report two cases of air-leakage syndrome associated with GVHD after allogeneic stem cell transplantation in acute leukemia patients who presented with spontaneous pneumomediastinum and subcutaneous emphysema, and finally death due to respiratory failure seven to eight months later.

  8. Development of Myelodysplastic Syndrome and Acute Myeloid Leukemia 15 Years after Hydroxyurea Use in a Patient with Sickle Cell Anemia

    OpenAIRE

    2012-01-01

    We report a 41 year old male with sickle cell disease who developed a myelodysplastic syndrome and acute myeloid leukemia with complex karyotype involving chromosomes 5, 7 and 17 after 15 years of hydroxyurea treatment. He responded poorly to induction chemotherapy with cytarabine/idarubicin followed by high dose cytarabine and succumbed to neutropenic sepsis. Multiple systematic reviews, observational studies and clinical trials were conducted to identify the toxicity profile of hydroxurea. ...

  9. 不同波长激光对太田痣治疗的影响%The Treatment Effect of Different Bandwidths Laser on Nevus of Ota

    Institute of Scientific and Technical Information of China (English)

    许成蓉; 张晓鸣; 陈映玲; 文莉

    2011-01-01

    To compare the Q-switch 755 nm and Q-switch 1 064 ran laser treatment of nevus of Ota' s efficacy and differences, and Investigate the reasons. Using Q-switch 755 nm and Q-switch 1 064 nm laser to give treatment to 637 cases of nevus of Ota. Observe the efficacy of each patient before and after the treatment, Evaluate the effect by the percentage of the pigment subsided. The results showed that Q-switch 755 nm and Q-switch 1 064 nm laser can both cure nevus of Ota safely and effectively. Q-switch755 nm laser was used to treat 297 cases of nevus of Ota, the effective rate is 83.5%. Q-switch 1 064 nm laser was used to treat 340 cases of nevus of Ota, the effective rate is 86.76% , there is no statistically significant difference in efficiency. However, 755 nm laser Q-switch effect on brown nevus of Ota is better than 1 064 nm Q-switch laser:755 nm group effective rate is 91.62% ; 1 064 nm group is 77.84% , x2 = 13. 89, P < 0.001, there is a significant difference, and the 1 064 nm Q-switch laser effect on the blue nevus of Ota is better than 755 nm laser Q-switch ; 755 nm group effective rate is 80. 54% ; 1 064 nm group is 92. 86% , there is a significant difference. And the 1 064 nm group postoperative pigmentation occur less than the 755 nm group.%本研究对比Q开关翠绿宝石755 nm激光和Q开关Nd:YAG1064 nm激光治疗太田痣的疗效和差别,探讨分析原因.分别用Q开关翠绿宝石755 nm激光和Q开关Nd:YAG1064 nm激光治疗637例太田痣患者,观察患者治疗前后疗效,根据色素减轻百分比进行评定.结果表明Q开关翠绿宝石755 nm激光和Q开关Nd:YAG1064 nm激光均能安全有效的治疗太田痣,Q开关翠绿宝石755 nm激光治疗太田痣297例,显效率为83.5%,Q开关Nd:YAG1064 nm激光治疗太田痣340例,显效率为86.76%,显效率没有统计学差异.但Q开关翠绿宝石755 nm激光对褐色太田痣疗效较高:755 nm组褐色显效率为91.62%;1064 nm组显效率为77.84%,统计学差

  10. Delayed beta-cell response and glucose intolerance in young women with Turner syndrome

    DEFF Research Database (Denmark)

    Hjerrild, Britta E; Holst, Jens Juul; Juhl, Claus B

    2011-01-01

    BACKGROUND: To investigate glucose homeostasis in detail in Turner syndrome (TS), where impaired glucose tolerance (IGT) and type 2 diabetes are frequent. METHODS: Cross sectional study of women with Turner syndrome (TS)(n = 13) and age and body mass index matched controls (C) (n = 13), evaluated...

  11. Infectious Mimicry Complicates Diagnosis in Hemophagocytic Syndrome Caused by Anaplastic Large-Cell Lymphoma

    Directory of Open Access Journals (Sweden)

    Michael J. Peluso

    2012-01-01

    Full Text Available Hemophagocytic syndrome (HPS arises secondary to genetic, rheumatologic, neoplastic, and infectious causes. We discuss a patient whose presentation was consistent with systemic infection but was discovered to have HPS of unknown etiology. The presenting symptoms, as well as unremarkable malignancy and rheumatologic workups, led to the pursuit of an infectious cause, but the patient was ultimately discovered to have an occult anaplastic large-cell lymphoma (ALCL. This case demonstrates the diagnostic challenges that result from infectious mimicry in the context of HPS—first, in distinguishing noninfectious HPS from the systemic inflammation that can result from a widespread infectious process, second, in the identification of the precipitating cause of HPS. While evidence of these challenges has been suggested by the limited literature on HPS and ALCL, our case illustrates the diagnostic dilemma that arises when tissue biopsy does not quickly reveal an etiology. It is important that all physicians be aware that HPS can mimic infection and be prepared to redirect the workup when an infectious etiology for HPS cannot be identified.

  12. Allogeneic hematopoietic stem cell transplantation following reduced-intensity conditioning for mycosis fungoides and Sezary syndrome.

    Science.gov (United States)

    Shiratori, Souichi; Fujimoto, Katsuya; Nishimura, Machiko; Hatanaka, Kanako C; Kosugi-Kanaya, Mizuha; Okada, Kohei; Sugita, Junichi; Shigematsu, Akio; Hashimoto, Daigo; Endo, Tomoyuki; Kondo, Takeshi; Abe, Riichiro; Hashino, Satoshi; Matsuno, Yoshihiro; Shimizu, Hiroshi; Teshima, Takanori

    2016-03-01

    Advanced-stage mycosis fungoides and Sezary syndrome (MF/SS) have a poor prognosis. Allogeneic hematopoietic stem cell transplantation (HSCT), particularly using a reduced-intensity conditioning (RIC) regimen, is a promising treatment for advanced-stage MF/SS. We performed RIC-HSCT in nine patients with advanced MF/SS. With a median follow-up period of 954 days after HSCT, the estimated 3-year overall survival was 85.7% (95% confidence interval, 33.4-97.9%) with no non-relapse mortality. Five patients relapsed after RIC-HSCT; however, in four patients whose relapse was detected only from the skin, persistent complete response was achieved in one patient, and the disease was manageable in other three patients by the tapering of immunosuppressants and donor lymphocyte infusion, suggesting that graft-versus-lymphoma effect and 'down-staging' effect from advanced stage to early stage by HSCT improve the prognosis of advanced-stage MF/SS. These results suggest that RIC-HSCT is an effective treatment for advanced MF/SS.

  13. Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.

    Science.gov (United States)

    Fujii, Katsunori; Ohashi, Hirofumi; Suzuki, Maiko; Hatsuse, Hiromi; Shiohama, Tadashi; Uchikawa, Hideki; Miyashita, Toshiyuki

    2013-12-01

    Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis. The gene responsible for NBCCS is PTCH1, encoding a receptor for the secreted protein, sonic hedgehog. Recently, a Chinese family with NBCCS carrying a missense mutation in PTCH2, a close homolog of PTCH1, was reported. However, the pathological significance of missense mutations should be discussed cautiously. Here, we report a 13-year-old girl diagnosed with NBCCS based on multiple keratocystic odontogenic tumors and rib anomalies carrying a frameshift mutation in the PTCH2 gene (c.1172_1173delCT). Considering the deleterious nature of the frameshift mutation, our study further confirmed a causative role for the PTCH2 mutation in NBCCS. The absence of typical phenotypes in this case such as palmar/plantar pits, macrocephaly, falx calcification, hypertelorism and coarse face, together with previously reported cases, suggested that individuals with NBCCS carrying a PTCH2 mutation may have a milder phenotype than those with a PTCH1 mutation.

  14. Optimal timing of allogeneic hematopoietic stem cell transplantation in patients with myelodysplastic syndrome.

    Science.gov (United States)

    Alessandrino, Emilio Paolo; Porta, Matteo G Della; Malcovati, Luca; Jackson, Christopher H; Pascutto, Cristiana; Bacigalupo, Andrea; Teresa van Lint, Maria; Falda, Michele; Bernardi, Massimo; Onida, Francesco; Guidi, Stefano; Iori, Anna Paola; Cerretti, Raffaella; Marenco, Paola; Pioltelli, Pietro; Angelucci, Emanuele; Oneto, Rosi; Ripamonti, Francesco; Rambaldi, Alessandro; Bosi, Alberto; Cazzola, Mario

    2013-07-01

    Allogeneic hematopoietic stem cell transplantation (HSCT) represents the only curative treatment for patients with myelodysplastic syndrome (MDS), but involves non-negligible morbidity and mortality. Registry studies have shown that advanced disease stage at transplantation is associated with inferior overall survival. To define the optimal timing of allogeneic HSCT, we carried out a decision analysis by studying 660 patients who received best supportive care and 449 subjects who underwent transplantation. Risk assessment was based on both the International Prognostic Scoring System (IPSS) and the World Health Organization classification-based Prognostic Scoring System (WPSS). We used a continuous-time multistate Markov model to describe the natural history of disease and evaluate the effect of allogeneic HSCT on survival. This model estimated life expectancy from diagnosis according to treatment policy at different risk stages. Relative to supportive care, estimated life expectancy increased when transplantation was delayed from the initial stages until progression to intermediate-1 IPSS-risk or to intermediate WPSS-risk stage, and then decreased for higher risks. Modeling decision analysis on WPSS versus IPSS allowed better estimation of the optimal timing of transplantation. These observations indicate that allogeneic HSCT offers optimal survival benefits when the procedure is performed before MDS patients progress to advanced disease stages.

  15. MASA syndrome is caused by mutations in the neural cell adhesion gene, L1CAM

    Energy Technology Data Exchange (ETDEWEB)

    Schwartz, C.E.; Wang, Y.; Schroer, R.J.; Stevenson, R.E. [Greenwood Genetic Center, SC (United States)

    1994-09-01

    The MASA syndrome is a recessive X-linked disorder characterized by Mental retardation, Adducted thumbs, Shuffling gait and Aphasia. Recently we found that MASA in one family was likely caused by a point mutation in exon 6 of the L1CAM gene. This gene has also been shown to be involved in X-linked hydrocephalus (HSAS). We have screened 60 patients with either sporadic HSAS or MASA as well as two additional families with MASA. For the screening, we initially utilized 3 cDNA probes for the L1CAM gene. In one of the MASA families, K8310, two affected males were found to have an altered BglII band. The band was present in their carrier mother but not in their normal brothers. This band was detected by the entire cDNA probe as well as the cDNA probe for 3{prime} end of the gene. Analysis of the L1CAM sequence indicated the altered BglII site is distal to the exon 28 but proximal to the punative poly A signal site. It is hypothesized that this point mutation alters the stability of the L1CAM mRNA. This is being tested using cell lines established from the two affected males.

  16. Tolvaptan Treatment in Syndrome of Inappropriate ADH Secretion due to Small Cell Lung Cancer

    Directory of Open Access Journals (Sweden)

    Mucahit Gur

    2014-06-01

    Full Text Available Experience of ADH receptor antagonist (-vaptanes treatment in hyponatremia in malign patient is very limited. 68 years old male patient admitted to our department with a complain of nause, vomitting and epigastric pain. He has advanced stage of small cell lung cancer. He had treated with cisplatin and etoposide regimen 10 days ago as a first cure. We diagnosed inapropriate secretion of antidiuretic hormone syndrome (SIADH with low sodium level (118 meq/dl. Although the treatment with water restriction and 3% NaCl infusion, sodium level was not in normal. So we ordered 30 mg tolvaptan tablet. And then sodium levels were reached normal. After one month of discharge from hospital, he has hospitilized with same symptom and diagnosis. And again we ordered same treatment procedure and tolvaptane treatment. He had normal sodium (136 mEq/dl level during his follow up. This case demostrate that tolvaptane treatment is suitable aproaches in hyponatremia due to SIADH in oncologic patient.

  17. Up-front allogeneic hematopoietic cell transplantation in acute myeloid leukemia arising from the myelodysplastic syndrome.

    Science.gov (United States)

    Choi, Yunsuk; Kim, Sung-Doo; Park, Young-Hoon; Lee, Jae Seok; Kim, Dae-Young; Lee, Jung-Hee; Lee, Kyoo-Hyung; Seol, Miee; Lee, Young-Shin; Kang, Young-Ah; Jeon, Mijin; Jung, Ah Rang; Lee, Je-Hwan

    2015-01-01

    In patients with secondary acute myeloid leukemia (s-AML) arising from the myelodysplastic syndrome (MDS), treatment outcome is unsatisfactory. We compared up-front allogeneic hematopoietic cell transplantation (HCT) to induction chemotherapy (IC) as an initial treatment in patients with s-AML arising from MDS. This retrospective study included 85 patients who were diagnosed with s-AML arising from MDS; 11 patients proceeded to up-front HCT without IC (HCT group) and 74 received IC (IC group) as an initial treatment for s-AML, 28 of whom subsequently underwent HCT. In the IC group, 41.9% achieved complete remission (CR) compared to 81.8% in the HCT group (p = 0.013). The HCT group showed a significantly longer event-free survival (EFS) than the IC group (median 29.2 vs. 5.2 months, p = 0.042). Overall survival of the HCT group was higher than that of the IC group, but the difference was not statistically significant (median 34.6 vs. 7.6 months, p = 0.149). After adjustment for other clinical factors, outcome in the HCT group was significantly better than in the IC group in terms of CR rate (hazard ratio, HR, 11.195; p = 0.007) and EFS (HR, 0.384; p = 0.029). Up-front HCT is a viable option in s-AML arising from MDS if an appropriate donor is available.

  18. TH17 cells are increased in the peripheral blood of patients with SAPHO syndrome.

    Science.gov (United States)

    Firinu, Davide; Barca, Maria Pina; Lorrai, Maria Maddalena; Perra, Silvia; Cabras, Stefano; Muggianu, Emma; Di Martino, Maria Luisa; Manconi, Paolo Emilio; Del Giacco, Stefano R

    2014-09-01

    To assess whether the immune derangement previously observed in SAPHO syndrome could be linked to variations in blood TH1, TH2 or TH17 lymphocytes frequency. Seven SAPHO patients with a protracted course of the disease were studied ex-vivo for intracellular cytokines production by means of flow-cytometry and compared with matched groups of Psoriatic Arthritis patients and healthy controls. The Kruskal-Wallis test on the median of the three categories showed that there is a significant association between the TH17 levels and the category (p value = 0.02474). The mean and variance for the proportion of IL-17 producing CD4+ cells were compared between groups showing significant differences between SAPHO versus PsA subgroup (p = 0.05) and SAPHO versus healthy controls (p = 0.008). Interestingly, activation of TH17 axis, but not of TH1 and TH2, has been found, and can be observed both in patients with different activity of the disease or treated with different drugs. The TH17 increase in peripheral blood of our SAPHO subjects resembles the one recently found in patients with different AIDs. Novel therapeutic options in these patients may therefore include IL-17 blockade.

  19. [Cold autoimmune hemolytic anemia complicated with relapsed myelodysplastic syndrome after allogeneic hematopoietic cell transplantation].

    Science.gov (United States)

    Okamura, Hiroshi; Nakane, Takahiko; Fujino, Keizo; Koh, Shiro; Yoshimura, Takuro; Nishimoto, Mitsutaka; Hayashi, Yoshiki; Koh, Hideo; Nakao, Yoshitaka; Nakamae, Hirohisa; Hino, Masayuki

    2015-04-01

    Myelodysplastic syndrome (MDS) is known to often be complicated by a range of autoimmune diseases. We herein present a case with MDS complicated by cold autoimmune hemolytic anemia (cold AIHA). The patient was a 51-year-old woman. She was diagnosed with MDS (refractory cytopenia with multilineage dysplasia) in May 2009. In January 2010, she underwent unrelated allogeneic bone marrow transplantation but was re-admitted in October 2010 for treatment of relapsed MDS. Despite daily transfusions of red blood cells, her anemia failed to improve. Her laboratory examinations showed a low haptoglobin level and elevation of indirect bilirubin and LDH. The direct Coombs test was positive at a low and at room temperature and cold agglutinin was negative. After confirming the diagnosis of cold AIHA, all transfusion fluids were warmed but her anemia still failed to improve. In addition to the warmed transfusion fluids, we administered corticosteroids, immunosuppressive agents and high-dose intravenous immunoglobulin infusions. This management strategy ameliorated the patient's hemolytic anemia. To our knowledge, MDS cases complicated by cold AIHA are rare. Our patient thus provides a valuable contribution to medical knowledge.

  20. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  1. Study of beta-cell function (by HOMA model in metabolic syndrome

    Directory of Open Access Journals (Sweden)

    M K Garg

    2011-01-01

    Full Text Available Introduction: The clustering of cardiovascular risk factors is termed the metabolic syndrome (MS, which strongly predict risk of diabetes and cardiovascular disease. Many studies implicate insulin resistance (IR in the development of diabetes, but ignore the contribution of beta-cell dysfunction. Hence, we studied beta-cell function, as assessed by HOMA model, in subjects with MS. Materials and Methods: We studied 50 subjects with MS diagnosed by IDF criteria and 24 healthy age- and sex-matched controls. Clinical evaluation included anthropometry, body fat analysis by bioimpedance, biochemical, and insulin measurement. IR and secretion were calculated by HOMA model. Results: Subjects with MS had more IR (HOMA-IR than controls (3.35 ± 3.14 vs. 1.76 ± 0.53, P = 0.029 and secreted less insulin (HOMA-S than controls (66.80 ± 69.66 vs. 144.27 ± 101.61, P = 0.0003, although plasma insulin levels were comparable in both groups (10.7 ± 10.2 vs. 8.2 ± 2.38, P = 0.44. HOMA-IR and HOMA-S were related with number of metabolic abnormalities. HOMA-IR was positively associated with body mass index, waist hip ratio, body fat mass, and percent body fat. HOMA-S was negatively associated with waist hip ratio, fasting plasma glucose and total cholesterol and positively with basal metabolic rate. Percent body fat was an independent predictor of HOMA-IR and waist hip ratio of HOMA-S in multiple regression analysis. Conclusions: Subjects with MS have increased IR and decreased insulin secretion compared with healthy controls. Lifestyle measures have been shown to improve IR, insulin secretion, and various components and effects of MS. Hence, there is an urgent need for public health measures to prevent ongoing epidemic of diabetes and cardiovascular disease.

  2. Defibrotide for the management of sinusoidal obstruction syndrome in patients who undergo haemopoietic stem cell transplantation.

    Science.gov (United States)

    Coutsouvelis, John; Avery, Sharon; Dooley, Michael; Kirkpatrick, Carl; Spencer, Andrew

    2016-11-01

    Sinusoidal obstruction syndrome, previously known as veno-occlusive disease (VOD/SOS), is a complication in patients undergoing haemopoietic stem cell transplantation (HSCT). Severe VOD/SOS, including progression to multi-organ failure, has resulted in a mortality of greater than 80%. Defibrotide's varying pharmacological actions, particularly on endothelial cells, make it is a useful agent to consider for prophylaxis and treatment of VOD/SOS. Barriers to its routine use include the high acquisition cost and the fact that neither the oral or parenteral formulations are licensed products in many countries at this time. This review summarises available literature on the use of defibrotide in the management of VOD/SOS. Publications consist predominantly of single centre cohort studies and case series. Available evidence indicates that defibrotide is effective in the management of VOD/SOS. Using defibrotide prophylaxis should also be considered, especially in the paediatric setting, where there are available results from a large, open label, randomized controlled trial. Patient outcome data from the larger studies and compassionate programs can inform consensus recommendations on dosing regimen and criteria for the treatment of VOD/SOS with defibrotide in the adult population. The reviewed literature indicates an effective and safe dose for treatment is 25mg/kg/day, continued for at least 14days or until complete response is achieved. Further studies are required to determine the optimal dose and duration of treatment in both paediatric patients and adults. Recent recommendations and a phase 3 trial using historical controls indicate that defibrotide should be included as a pharmacotherapy option in protocols guiding management of VOD/SOS.

  3. Autoinflammatory syndromes.

    Science.gov (United States)

    Galeazzi, M; Gasbarrini, G; Ghirardello, A; Grandemange, S; Hoffman, H M; Manna, R; Podswiadek, M; Punzi, L; Sebastiani, G D; Touitou, I; Doria, A

    2006-01-01

    The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen specific T cells. These disorders are caused by primary dysfunction of the innate immune system, without evidence of adaptive immune dysregulation. Innate immune abnormalities include aberrant responses to pathogen associated molecular patterns (PAMPs) like lipopolysaccharide and peptidoglycan, prominent neutrophilia in blood and tissues, and dysregulation of inflammatory cytokines (IL-1beta, TNF-alpha) or their receptors. The autoinflammatory diseases comprise both hereditary (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial (Crohn's and Behçet's diseases) disorders. Mutations responsible for FMF, TRAPS, CAPS, PAPA are in proteins involved in modulation of inflammation and apoptosis.

  4. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  5. Pulmonary Thromboembolism in a Child with Sickle Cell Hemoglobin D Disease in the Setting of Acute Chest Syndrome

    OpenAIRE

    Hazel Villanueva; Sandeepkumar Kuril; Jennifer Krajewski; Aziza Sedrak

    2013-01-01

    Introduction. Sickle cell hemoglobin D disease (HbSD) is a rare variant of sickle cell disease (SCD). Incidence of pulmonary thromboembolism (PE) and deep venous thrombosis (DVT) in children with HbSD is unknown. PE and DVT are known complications of SCD in adults but have not been reported in the literature in children with HbSD. Case Report. We are reporting a case of a 12-year-old boy with HbSD with acute chest syndrome (ACS) complicated by complete thrombosis of the branch of the right pu...

  6. One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome.

    Science.gov (United States)

    Butler, Grainne H; Boyle, Michael; Lynch, Sally Ann; Ryan, Stephanie; McDermott, Michael; Capra, Michael

    2016-08-01

    A male preterm infant was born with dysmorphic features consistent with Rubinstein-Taybi syndrome (RTS). An undescended right testicle was noted on examination. At 5 months of age he developed a palpable right-sided abdominal mass and an elevated alpha-fetoprotein. Histology revealed a malignant germ cell neoplasm arising within the undescended testis. This is the first reported case of a germ cell tumor occurring in a pediatric patient with RTS. Urologic abnormalities occur in approximately 52% of RTS patients, of which cryptorchidism is the commonest. Given the frequency of undescended testes in this population, closer screening may be warranted.

  7. Hutchinson-Gilford progeria syndrome alters nuclear shape and reduces cell motility in three dimensional model substrates.

    Science.gov (United States)

    Booth-Gauthier, Elizabeth A; Du, Vicard; Ghibaudo, Marion; Rape, Andrew D; Dahl, Kris Noel; Ladoux, Benoit

    2013-03-01

    Cell migration through tight interstitial spaces in three dimensional (3D) environments impacts development, wound healing and cancer metastasis and is altered by the aging process. The stiffness of the extracellular matrix (ECM) increases with aging and affects the cells and cytoskeletal processes involved in cell migration. However, the nucleus, which is the largest and densest organelle, has not been widely studied during cell migration through the ECM. Additionally, the nucleus is stiffened during the aging process through the accumulation of a mutant nucleoskeleton protein lamin A, progerin. By using microfabricated substrates to mimic the confined environment of surrounding tissues, we characterized nuclear movements and deformation during cell migration into micropillars where interspacing can be tuned to vary nuclear confinement. Cell motility decreased with decreased micropillar (μP) spacing and correlated with increased dysmorphic shapes of nuclei. We examined the effects of increased nuclear stiffness which correlates with cellular aging by studying Hutchinson-Gilford progeria syndrome cells which are known to accumulate progerin. With the expression of progerin, cells showed a threshold response to decreased μP spacing. Cells became trapped in the close spacing, possibly from visible micro-defects in the nucleoskeleton induced by cell crawling through the μP and from reduced force generation, measured independently. We suggest that ECM changes during aging could be compounded by the increasing stiffness of the nucleus and thus changes in cell migration through 3D tissues.

  8. Induction of melasma by 1064-nm Q-switched neodymium:yttrium-aluminum-garnet laser therapy for acquired bilateral nevus of Ota-like macules (Hori nevus): A study on related factors in the Chinese population.

    Science.gov (United States)

    Wang, Ben; Xie, Hong-Fu; Tan, Jun; Xie, Hong-Ju; Xu, Lin-Yong; Ding, Rong; Liu, Fang-Fen; Chen, Xiang; Jian, Dan; Li, Ji

    2016-06-01

    Laser treatment has emerged as a common treatment modality for acquired bilateral nevus of Ota-like macules (ABNOM). To identify the ratio of melasma induction and exacerbation before and after laser therapy for ABNOM and to observe the risk factors related to the induction and exacerbation of melasma by laser therapy, we analyzed related factors of 1268 adult Chinese patients who underwent 1064-nm Q-switched neodymium:yttrium-aluminum-garnet (Nd:YAG) laser (QNYL) treatment using case series and case-control studies. Overall, 24.0% of the ABNOM patients had mixed melasma. Among the ABNOM patients without melasma, after laser therapy the development of melasma was more frequently noted in patients older than 35 years (P < 0.0001), as well in patients whose ABNOM was less than 10 cm(2) (P = 0.027), ABNOM were light (similar to yellow-brown) in color (P = 0.021) and skin types were closer to type IV (P < 0.0001). New melasma lesions also appeared most frequently in the zygomatic region (P < 0.0001). Among the ABNOM patients with melasma, 89.5% experienced worsening of their melasma, irrespective of their related factors above. We concluded that the risk of inducing melasma is great after 1064-nm QNYL treatment in ABNOM patients, and particularly in the patients with both ABNOM and melasma. ABNOM patients should be treated as early as possible and before the age of 35 years.

  9. Th17/Treg cell expression in children with primary nephritic syndrome and the effects of ox-LDL on Th17/Treg cells.

    Science.gov (United States)

    Li, Y Y; Wei, S G; Zhao, X; Jia, Y Z; Zhang, Y F; Sun, S Z

    2016-06-10

    To investigate the role of T-helper cells/Treg (Th17/Treg) and morbidity factors related to primary nephritic syndrome (PNS) in children, as well as the influence of ox-low density lipoprotein (ox-LDL) on Th17/Treg expression in children with PNS. To clarify the pathogenesis of PNS in children, 50 children with PNS treated in our hospital were enrolled in the study group. Additionally, 20 healthy children who came to our hospital for physical examination during the same period were enrolled in the control group. Th17 and Treg cells in children belonging to the two groups were detected by flow cytometry; the numbers of Th17/Treg cells in peripheral blood mononuclear cells at different concentrations of ox-LDL were detected simultaneously. Ox-LDL can affect the number of Th17/Treg cells in peripheral blood mononuclear cells, and both cell types decreased with increasing concentration of ox-LDL, with the numbers being significantly lower in the control group. However, the decrease in the number of Th17 cells was statistically insignificant (P > 0.05), whereas the decrease in Treg cells was more obvious and statistically significant (P Treg cells was stronger than that on Th17 cells. We concluded that the imbalance of Th17/Treg cells influenced by high and low ox-LDL concentrations in children with PNS might be the immunological basis of the disease.

  10. Impaired circulating CD4+ LAP+ regulatory T cells in patients with acute coronary syndrome and its mechanistic study.

    Directory of Open Access Journals (Sweden)

    Zheng-Feng Zhu

    Full Text Available OBJECTIVE: CD4(+ latency-associated peptide (LAP(+ regulatory T cells (Tregs are a newly discovered T cell subset in humans and the role of these cells in patients with acute coronary syndrome (ACS has not been explored. We designed to investigate whether circulating frequency and function of CD4(+LAP(+ Tregs are defective in ACS. METHODS: One hundred eleven ACS patients (acute myocardial infarction and unstable angina and 117 control patients were enrolled in the study. The control patients consisted of chronic stable angina (CSA and chest pain syndrome (CPS. The frequencies of circulating CD4(+LAP(+ Tregs and the expression of the transmembrane protein glycoprotein-A repetitions predominant (GARP on CD4(+ T cells were determined by flow cytometry. The function of CD4(+LAP(+ Tregs was detected using thymidine uptake. Serum interleukin-10 (IL-10 and transforming growth factor-β protein (TGF-β levels were detected using ELISA and expression of GARP mRNA in peripheral blood mononuclear cells (PBMCs was measured by real time-polymerase chain reaction. RESULTS: We found ACS patients had a significantly lower frequency of circulating CD4(+LAP(+ Tregs, and the function of these cells was reduced compared to controls. The expression of GARP in CD4(+ T cells and the serum levels of TGF-β in ACS patients were lower than those of control patients. The serum levels of IL-10 were similar between the two cohorts. CONCLUSIONS: A novel regulatory T cell subset, defined as CD4(+LAP(+ T cells is defective in ACS patients.

  11. Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.

    Science.gov (United States)

    Gogiel, Magdalena; Begemann, Matthias; Spengler, Sabrina; Soellner, Lukas; Göretzlehner, Ulf; Eggermann, Thomas; Strobl-Wildemann, Gertrud

    2013-07-01

    Uniparental disomy (UPD) of single chromosomes is a well-known molecular aberration in a group of congenital diseases commonly known as imprinting disorders (IDs). Whereas maternal and/or paternal UPD of chromosomes 6, 7, 11, 14 and 15 are associated with specific IDs (Transient neonatal diabetes mellitus, Silver-Russell syndrome, Beckwith-Wiedemann syndrome (BWS), upd(14)-syndromes, Prader-Willi syndrome, Angelman Syndrome), the other autosomes are not. UPD of the whole genome is not consistent with life, in case of non-mosaic genome-wide paternal UPD (patUPD) it leads to hydatidiform mole. In contrast, mosaic genome-wide patUPD might be compatible with life. Here we present a 19-year-old woman with BWS features and initially diagnosed to be carrier of a mosaic patUPD of chromosome 11p15. However, the patient presented further clinical findings not typically associated with BWS, including nesidioblastosis, fibroadenoma, hamartoma of the liver, hypoglycaemia and ovarian steroid cell tumour. Additional molecular investigations revealed a mosaic genome-wide patUPD. So far, only nine cases with mosaic genome-wide patUPD and similar clinical findings have been reported, but these patients were nearly almost diagnosed in early childhood. Summarising the data from the literature and those from our patient, it can be concluded that the mosaic genome-wide patUPD (also known as androgenic/biparental mosaicism) might explain unusual BWS phenotypes. Thus, these findings emphasise the need for multilocus testing in IDs to efficiently detect cases with disturbances affecting more than one chromosome.

  12. Accumulated quiescent neural stem cells in adult hippocampus of the mouse model for the MECP2 duplication syndrome

    Science.gov (United States)

    Chen, Zhifang; Li, Xiao; Zhou, Jingjing; Yuan, Bo; Yu, Bin; Tong, Dali; Cheng, Cheng; Shao, Yinqi; Xia, Shengnan; Zhang, Ran; Lyu, Jingwen; Yu, Xiuya; Dong, Chen; Zhou, Wen-Hao; Qiu, Zilong

    2017-01-01

    Duplications of Methyl CpG binding protein 2 (MECP2) -containing segments lead to the MECP2 duplication syndrome, in which severe autistic symptoms were identified. Whether adult neurogenesis may play a role in pathogenesis of autism and the role of MECP2 on state determination of adult neural stem cells (NSCs) remain largely unclear. Using a MECP2 transgenic (TG) mouse model for the MECP2 duplication syndrome, we found that adult hippocampal quiescent NSCs were significantly accumulated in TG mice comparing to wild type (WT) mice, the neural progenitor cells (NPCs) were reduced and the neuroblasts were increased in adult hippocampi of MECP2 TG mice. Interestingly, we found that parvalbumin (PV) positive interneurons were significantly decreased in MECP2 TG mice, which were critical for determining fates of adult hippocampal NSCs between the quiescence and activation. In summary, we found that MeCP2 plays a critical role in regulating fate determination of adult NSCs. These evidences further suggest that abnormal development of NSCs may play a role in the pathogenesis of the MECP2 duplication syndrome. PMID:28139724

  13. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  14. Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome

    DEFF Research Database (Denmark)

    Ohm-Laursen, Line; Nielsen, Christian; Fisker, Niels

    2008-01-01

    and the patient had eosinophilia. These presentations are consistent with atypical severe combined immunodeficiency (SCID)/Omenn Syndrome and the diagnosis was confirmed by demonstration of homozygosity for the R841W mutation in the catalytic core of RAG1. Comparison of the patient's immunoglobulin heavy chain...... chromosome 14. CONCLUSION: We hypothesize that the R841W mutation causes a malfunction of RAG1 that has differential outcome on V(D)J recombination in B and T cells, as the patient had normal B cell numbers but suffered severe alpha-beta T-cell immunodeficiency.......INTRODUCTION: A 2.5-month old boy presented with recurrent wheezing, protracted diarrhea, erythrodermia, and failure to thrive. METHODS AND RESULTS: Laboratory analysis showed lymphocytopenia with severely reduced T-cell numbers but normal numbers of B and NK cells. Serum IgE was increased...

  15. PDIA3 gene induces visceral hypersensitivity in rats with irritable bowel syndrome through the dendritic cell-mediated activation of T cells

    Science.gov (United States)

    Zhuang, Zhaomeng; Zhang, Lu; Wang, Xiaoteng; Tao, Liyuan

    2016-01-01

    This study investigated the mechanism of protein disulfide-isomerase A3 (PDIA3)-induced visceral hypersensitivity in irritable bowel syndrome (IBS). Rats were treated with saline (control), acetic acid and restraint stress (IBS model), empty vector (RNAi control) and PDIA3-RNAi vector (PDIA3-RNAi). Mesenteric lymph node DCs (MLNDCs) and splenic CD4+/CD8+ T cells were isolated for co-cultivation. Compared with control, MLNDCs co-cultured with CD4+ or CD8+ T cells showed an increased ability to promote T cell proliferation and produced more IL-4 or IL-9 secretion. Compared with the RNAi control, MLNDCs from the PDIA3 knockdown models were less effective in promoting the proliferation of CD4+/CD8+ T cells. It is concluded that PDIA3 plays an important role in the development of IBS through the DC-mediated activation of T cells, resulting in degranulation of MCs and visceral hypersensitivity. PMID:27896022

  16. PDIA3 gene induces visceral hypersensitivity in rats with irritable bowel syndrome through the dendritic cell-mediated activation of T cells

    Directory of Open Access Journals (Sweden)

    Zhaomeng Zhuang

    2016-11-01

    Full Text Available This study investigated the mechanism of protein disulfide-isomerase A3 (PDIA3-induced visceral hypersensitivity in irritable bowel syndrome (IBS. Rats were treated with saline (control, acetic acid and restraint stress (IBS model, empty vector (RNAi control and PDIA3-RNAi vector (PDIA3-RNAi. Mesenteric lymph node DCs (MLNDCs and splenic CD4+/CD8+ T cells were isolated for co-cultivation. Compared with control, MLNDCs co-cultured with CD4+ or CD8+ T cells showed an increased ability to promote T cell proliferation and produced more IL-4 or IL-9 secretion. Compared with the RNAi control, MLNDCs from the PDIA3 knockdown models were less effective in promoting the proliferation of CD4+/CD8+ T cells. It is concluded that PDIA3 plays an important role in the development of IBS through the DC-mediated activation of T cells, resulting in degranulation of MCs and visceral hypersensitivity.

  17. Circulating vascular progenitor cells and central arterial stiffness in polycystic ovary syndrome.

    Directory of Open Access Journals (Sweden)

    Cecile Dessapt-Baradez

    Full Text Available OBJECTIVE: Subjects with Polycystic ovarian syndrome (PCOS are at increased risk of Type 2 diabetes mellitus (T2DM. The mechanism of this enhanced risk is unclear. Circulating vascular progenitor cells (VPC are immature bone marrow derived cells capable of differentiating into mature endothelial cells. VPC number/function and central arterial stiffness predict cardio-metabolic disease in at-risk populations. DESIGN: We studied VPC and arterial stiffness measures in non-obese PCOS subjects as compared to age and body mass index (BMI matched healthy controls in a cross-sectional study. METHODS: Fourteen subjects with PCOS and 12 controls of similar age, BMI (all <30 kg/m(2 and metabolic profile were studied. VPC number and in vitro function were studied by flow cytometry and tube formation assays respectively. Augmentation index (AIx, a measure of central arterial stiffness, and central (aortic blood pressures (BP were measured by applanation tonometry. RESULTS: Subjects with PCOS had a reduced number, mean±SEM, of circulating CD34(+133(+ VPCs (317.5±51.0 vs. 558.3±101.2, p = 0.03 and impaired in vitro tube formation (completed tube area 1.0±0.06 vs. 1.2±0.05×10(6 µm(2 p = 0.02. PCOS subjects had significantly higher AIx (18.4±1.9% vs. 4.9±2.0% and this difference remained significant even after adjustments for age, BMI and smoking (p = 0.003 in multivariate analyses. Central systolic and pulse pressure were higher in PCOS subjects but these differences were not statistically significant after adjustment for age. Brachial systolic and pulse pressures were similar. VPC number/function and arterial stiffness or BP measures were not correlated. CONCLUSIONS: Non-obese PCOS is characterized by a reduced VPC number, impaired VPC function and increased central arterial stiffness. These changes in novel vascular risk markers may explain the enhanced risk of T2DM and CVD in PCOS.

  18. Paraneoplastic Syndromes of Hypercalcemia and Leukocytosis Associated with Colonic Metastases from Squamous Cell Carcinoma of the Lung: a Case Report

    Institute of Scientific and Technical Information of China (English)

    Xiangtao Ma; Xu Wang; Liwei Yu; Jing Fu; Shan Wang; Ruyu Du; Zhirong Cui

    2006-01-01

    @@ Lung cancer is the most common cancer-related death in both men and women in the world. Approximately 25% of all cancer deaths are attributable to lung carcinoma. Moreover, about one-half of patients with lung cancer have metastases at the time of initial diagnosis, most frequently of lymph nodes, adrenals, liver, bone and brain.However metastasis to the colon is very rare. Over the past 25 years about 13 cases of symptomatic colonic metastases from lung malignancies of all types have been reported in the literature. Hypercalcemia and leukocytosis are two of the most common paraneoplastic syndromes associated with various malignancies. However, concomitant manifestation of hypercalcemia and leukocytosis are occasionally observed in the same cancer patients. Here, we present a rare case of colonic metastasis from a squamous cell carcinoma of the lung associated with paraneoplastic syndromes of hypercalcemia and leukocytosis.

  19. New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Jouet, M.; Kenwick, S. [Univ. of Cambridge (United Kingdom); Moncla, A. [Hopital d`Enfants de la Timone, Marseillas (United Kingdom)] [and others

    1995-06-01

    The neural cell-adhesion molecule L1 is involved in intercellular recognition and neuronal migration in the CNS. Recently, we have shown that mutations in the gene encoding L1 are responsible for three related disorders; X-linked hydrocephalus, MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome, and spastic paraplegia type I (SPG1). These three disorders represent a clinical spectrum that varies not only between families but sometimes also within families. To date, 14 independent L1 mutations have been reported and shown to be disease causing. Here we report nine novel L1 mutations in X-linked hydrocephalus and MASA-syndrome families, including the first examples of mutations affecting the fibronectin type III domains of the molecule. They are discussed in relation both to phenotypes and to the insights that they provide into L1 function. 39 refs., 5 figs., 3 tabs.

  20. Intricate correlation and biological behavior of keratocyst in nevoid basal cell carcinoma syndrome: A comprehensive review of literature

    Directory of Open Access Journals (Sweden)

    Asha Raj

    2013-01-01

    Full Text Available The odontogenic keratocysts (OKC usually represent a particular entity that has been of interest mainly due to biological aggressiveness and to its frequent recurrence. Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome is a hereditary condition characterized by a wide-range of developmental abnormalities and a predisposition to neoplasms. There are several possible reasons why OKC recur so frequently and require meticulous surgical planning and execution. This mini review has attempted to show that there is a lack of published evidence regarding the cause of frequent recurrent of OKC that presented in NBCCS. However, the findings of the study revealed differences in opinion regarding the treatment modalities, which necessitates further long term clinical studies that could precisely document certain reliable guidelines in this perspective.