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Sample records for infantile malignant osteopetrosis

  1. Neurological complications of infantile osteopetrosis.

    PubMed

    Lehman, R A; Reeves, J D; Wilson, W B; Wesenberg, R L

    1977-11-01

    Seven cases of infantile osteopetrosis are presented. Five of these were available for detailed clinical examination and 2 for retrospective review, including autopsy slides. Neurological deficits in these patients are reviewed. Involvement of the central nervous system parenchyma was suggested by observations of delayed development, ocular abnormalities, and reflex changes as well as radiographic and autopsy findings. Cerebral atrophy was present in several of our patients as well as some reported in the literature and may account for the ventricular enlargement found in many of these patients. Though hydrocephalus may be present, it is unclear that this is frequent or that it can occur without antecedent intracranial hemorrhage. The large head size is not accounted for by calvarial thickening or by hydrocephalus. Despite our patients' small stature, pituitary function appeared to be normal. Surgical decompression may stabilize cranial nerve function, particularly when the optic nerves are involved. PMID:617576

  2. A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

    PubMed Central

    Diniz, Gulden; Olukman, Ozgur; Calkavur, Sebnem; Buyukinan, Muammer; Altay, Canan

    2015-01-01

    Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion. PMID:26576309

  3. A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.

    PubMed

    Zeng, Binghui; Li, Ru; Hu, Yuelin; Hu, Bin; Zhao, Qiang; Liu, Huijiao; Yuan, Ping; Wang, Yiming

    2016-01-15

    Osteopetrosis is a group of heterogeneous disorders caused by the dysfunction of osteoclasts. The CLCN7 and TCIRG1 genes are the major obligate genes responsible for infantile malignant osteopetrosis (IMO). IMO patients usually die in infancy or before three years of age. In this study, we report a patient who was diagnosed with IMO at seven months of age. The patient presented with classical radiological features of IMO. She also exhibited erythropenia, thrombocytopenia, hepatosplenomegaly and neurodegeneration. The parents discontinued any medical treatment for the patient. Surprisingly, the patient's condition did not deteriorate when she was admitted a second time at the age of four years and nine months, despite not receiving any medical support during the untreated period. We sequenced the CLCN7 and TCIRG1 genes of the patient and her parents and identified a novel c.285+1G>A (IVS3+1G>A) mutation and the known c.896C>T (p.Ala299Val) mutation. The novel c.285+1G>A mutation occurred on the splice donor of the third intron of CLCN7. This mutation was predicted to interfere with normal splicing between exons 3 and 4, thereby truncating 711 amino acids from the C terminus and resulting in the loss of all of the functional domains of the encoded protein. The c.896C>T (p.Ala299Val) mutation was a previously known pathogenic mutation. We did not find any pathogenic mutations in the TCIRG1 gene. CLCN7-related osteopetrosis is known to have a high phenotype heterogeneity. Our study demonstrates a wide heterogeneity in the progression of the phenotypes and expanded the mutational spectrum for the CLCN7 gene.

  4. Osteopetrosis

    PubMed Central

    Yu, J. S.; Oates, R. K.; Walsh, K. Helen; Stuckey, Susan J.

    1971-01-01

    The clinical histories of nine children with osteopetrosis are reported. Two of them had the malignant infantile variety of the disease: one died within 3 months of birth and the other has survived 20 months on a regimen of a low calcium intake, cellulose phosphate, and steroids. The beneficial effect of a low calcium intake, in early infancy, is supported by the clinical course in the infant with the malignant variety and in another child with the more benign form of the disease. No calcium balance studies were performed. This study suggests that the active measures outlined may favourably influence the haematological and osteosclerotic course of the disease, pending further knowledge of its aetiological basis, and more specific therapy. ImagesFIG. 2FIG. 2c. PMID:5090659

  5. Hematopoietic stem cell transplantation for infantile osteopetrosis

    PubMed Central

    Fasth, Anders L.; Le Rademacher, Jennifer; He, Wensheng; Boelens, Jaap Jan; Horwitz, Edwin M.; Al-Seraihy, Amal; Ayas, Mouhab; Bonfim, Carmem M.; Boulad, Farid; Lund, Troy; Buchbinder, David K.; Kapoor, Neena; O’Brien, Tracey A.; Perez, Miguel A. Diaz; Veys, Paul A.; Eapen, Mary

    2015-01-01

    We report the international experience in outcomes after related and unrelated hematopoietic transplantation for infantile osteopetrosis in 193 patients. Thirty-four percent of transplants used grafts from HLA-matched siblings, 13% from HLA-mismatched relatives, 12% from HLA-matched, and 41% from HLA-mismatched unrelated donors. The median age at transplantation was 12 months. Busulfan and cyclophosphamide was the most common conditioning regimen. Long-term survival was higher after HLA-matched sibling compared to alternative donor transplantation. There were no differences in survival after HLA-mismatched related, HLA-matched unrelated, or mismatched unrelated donor transplantation. The 5- and 10-year probabilities of survival were 62% and 62% after HLA-matched sibling and 42% and 39% after alternative donor transplantation (P = .01 and P = .002, respectively). Graft failure was the most common cause of death, accounting for 50% of deaths after HLA-matched sibling and 43% of deaths after alternative donor transplantation. The day-28 incidence of neutrophil recovery was 66% after HLA-matched sibling and 61% after alternative donor transplantation (P = .49). The median age of surviving patients is 7 years. Of evaluable surviving patients, 70% are visually impaired; 10% have impaired hearing and gross motor delay. Nevertheless, 65% reported performance scores of 90 or 100, and in 17%, a score of 80 at last contact. Most survivors >5 years are attending mainstream or specialized schools. Rates of veno-occlusive disease and interstitial pneumonitis were high at 20%. Though allogeneic transplantation results in long-term survival with acceptable social function, strategies to lower graft failure and hepatic and pulmonary toxicity are urgently needed. PMID:26012570

  6. Osteomyelitis of Maxilla in Infantile Osteopetrosis: A Case Report with Review of Literature

    PubMed Central

    Girija, KL; Ranimol, P

    2011-01-01

    Osteopetrosis is a rare genetic disorder that causes generalized sclerosis of bone due to a defect in bone resorption and remodeling. It is usually manifesting in two basic forms: An autosomal dominant benign form (osteopetrosis tarda) and an autosomal recessive malignant form (osteopetrosis congenita). A third form, the intermediate recessive type, has also been reported. Dental abnormality may be attributed to pathological changes in bone remodeling. Osteomyelitis is well documented as a complication of osteopetrosis and is severe and difficult to treat. This is a case of 8-year-old boy with osteopetrosis presenting with the complaint of swelling of left side of face.

  7. Diagnostic dilemma: osteopetrosis with superimposed rickets causing neonatal hypocalcemia.

    PubMed

    Olgaç, Asburçe; Tümer, Leyla; Boyunağa, Öznur; Kızılkaya, Metehan; Hasanoğlu, Alev

    2015-04-01

    Osteopetrosis is a rare genetic condition of reduced osteoclastic bone resorption which causes defective bone remodeling and skeletal sclerosis during growth, having effects on many organs and tissues. Mutation of T-cell immune regulator 1 (TCRG1) gene is the most common genetic defect leading to osteopetrosis, with poor prognosis. The autosomal recessive form presents in the infantile period (also known as malignant infantile osteopetrosis--MIOP), and is characterized by fractures, short stature, hepatosplenomegaly, compressive neuropathies, hypocalcemia and pancytopenia. Being a rare disease with non-specific clinical manifestations, the diagnosis is difficult and usually delayed. Rickets is a characteristic feature of MIOP which results from the defect in osteoclasts to provide a normal Ca/P balance resulting in the poor mineralization of the osteoid. Various treatment options have been suggested for osteopetrosis, but hematopoietic stem cell transplantation still remains the only curative treatment option presently. The authors report the case of a 46-day-old girl with late-onset neonatal hypocalcemia and rickets that was later diagnosed as osteopetrosis. This case report emphasizes that infantile osteopetrosis is an important cause of neonatal hypocalcemia. As irreversible complications develop within the first months of life, immediate diagnosis and early intervention are crucial and may be life-saving.

  8. Osteopetrosis Overview

    MedlinePlus

    ... on Osteopetrosis, contact the: NIH Osteoporosis and Related Bone Diseases ~ National Resource Center Website: http://www.bones.nih. ... Pub. No. 15-7828 NIH Osteoporosis and Related Bone Diseases ~ National Resource Center 2 AMS Circle Bethesda, MD ...

  9. Genetics Home Reference: osteopetrosis

    MedlinePlus

    ... Open All Close All Description Osteopetrosis is a bone disease that makes bones abnormally dense and prone to ... Other Names for This Condition congenital osteopetrosis marble bone disease osteopetroses Related Information How are genetic conditions and ...

  10. The therapy of infantile malignant brain tumors: current status?

    PubMed

    Kalifa, Chantal; Grill, Jacques

    2005-12-01

    Malignant brain tumors are not uncommon in infants as their occurrence before the age of three represents 20-25% of all malignant brain tumors in childhood [1]. Genetic predisposition to infantile malignant brain tumors are known in Gorlin syndrome for example who present with desmoplastic medulloblastoma in about 5% of the affected patients. In addition, sequelae from tumor and its treatment are more severe at this age [2]. Thus, malignant brain tumors represent a true therapeutic challenge in neuro-oncology. Before the era of modern imaging and modern neurosurgery these malignant brain tumors were misdiagnosed or could not benefit of the surgical procedures as well as older children because of increased risks in this age group. Since the end of the 80s, noninvasive imaging procedures produce accurate diagnosis of brain tumors and improvement in neurosurgery, neuroanesthesia and perioperative intensive care permit safe tumor resections or at least biopsies. Consequently, the pediatric oncologists are more often confronted with very young children who need a complementary treatment. Before the development of specific approaches for this age group, these children received the same kind of treatment than the older children did, but their survival and quality of life were significantly worse. The reasons of these poor results were probably due in part to the fear of late effects induced by radiation therapy, leading to decrease the necessary doses of irradiation which increased treatment failures without avoiding treatment related complications [3]. At the end of the 80s, pilot studies were performed using postoperative chemotherapy in young medulloblastoma patients. Van Eys treated 12 selected children with medulloblastoma with MOPP regimen and without irradiation; 8 of them were reported to be long term survivors [4]. Subsequently, the pediatric oncology cooperative groups studies have designed therapeutic trials for very young children with malignant brain tumors

  11. An Adolescent Case of Osteopetrosis with Portal Hypertension as well as Mandibula Osteomyelitis.

    PubMed

    Leblebisatan, Goksel; Celik, Umit; Temiz, Fatih; Celik, Tamer; Aydin, Fahri; Istifli, Fatma Levent; Leblebisatan, Serife; Komur, Mustafa

    2015-06-01

    Osteopetrosis is a clinical syndrome characterized by the failure of osteoclasts to resorb bone. Excessive bone density can interfere with vital tissues and structures, causing serious problems of the body. Hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment may develop in a patient with osteopetrosis. Herein, we present an adolescent girl diagnosed with non-infantile type of osteopetrosis with rare complications of the disease like mandibular osteomyelitis and portal hypertension (PHT) without liver cirrhosis. To our knowledge, this is the first pediatric case with osteopetrosis related PHT.

  12. Osteopetrosis: radiological & radionuclide imaging.

    PubMed

    Sit, Cherry; Agrawal, Kanhaiyalal; Fogelman, Ignac; Gnanasegaran, Gopinath

    2015-01-01

    Osteopetrosis is a rare inherited bone disease where bones harden and become abnormally dense. While the diagnosis is clinical, it also greatly relies on appearance of the skeleton radiographically. X-ray, radionuclide bone scintigraphy and magnetic resonance imaging have been reported to identify characteristics of osteopetrosis. We present an interesting case of a 59-year-old man with a history of bilateral hip fractures. He underwent (99m)Tc-methylene diphosphonate whole body scan supplemented with single-photon emission computed tomography/computed tomography of spine, which showed increased uptake in the humeri, tibiae and femora, which were in keeping with osteopetrosis.

  13. Osteopetrosis (Marble Bone Disease): A Rare Disease in Children

    PubMed Central

    2011-01-01

    Osteopetrosis is a group of diseases that affects the growth and remodeling of bone and characterized by over growth and sclerosis of bone, with thickening of the bony cortices, abnormal dental development and narrowing of the marrow cavities throughout the skeleton. It is an uncommon disease of unknown cause. A 5-year-old boy was suffering from infantile (severe form) osteopetrosis with cardiac enlargement, severe anemia, hepatosplenomagaly and radiographs showed generalized increase in bone density (chalky white), narrowing of skull base is reported here.

  14. Osteopetrosis in a neonatal donkey.

    PubMed

    Williamson, A J; Stent, A W; Milne, M; Walmsley, E A

    2016-10-01

    Osteopetrosis is a rare disorder characterised by a defect in osteoclastic bone resorption. This report describes osteopetrosis in a neonatal donkey that suffered a displaced tibial fracture. Radiographic examination identified generalised reduction in medullary cavity size, thickened mid-diaphyseal cortices and conical metaphyseal bone extending toward the mid-diaphysis of long bones. Postmortem examination identified additional fractures and brittle bones. Histologically, osteoclasts were absent in multiple bone sections. Diaphyseal cortices consisted of concentric bone lamellae with marrow tissue infiltration. Large wedges of secondary spongiosa extended from the metaphyseal growth plate. Clinical and histopathological features were similar to an osteoclast-deficient, autosomal recessive form of osteopetrosis in humans. PMID:27671079

  15. Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.

    PubMed

    Palagano, Eleonora; Blair, Harry C; Pangrazio, Alessandra; Tourkova, Irina; Strina, Dario; Angius, Andrea; Cuccuru, Gianmauro; Oppo, Manuela; Uva, Paolo; Van Hul, Wim; Boudin, Eveline; Superti-Furga, Andrea; Faletra, Flavio; Nocerino, Agostino; Ferrari, Matteo C; Grappiolo, Guido; Monari, Marta; Montanelli, Alessandro; Vezzoni, Paolo; Villa, Anna; Sobacchi, Cristina

    2015-10-01

    Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and phenotypic heterogeneity, sometimes translating into delayed diagnosis and treatment. In particular, cases of intermediate severity often constitute a diagnostic challenge and represent good candidates for exome sequencing. Here, we describe the tortuous path to identification of the molecular defect in two siblings, in which osteopetrosis diagnosed in early childhood followed a milder course, allowing them to reach the adult age in relatively good conditions with no specific therapy. No clearly pathogenic mutation was identified either with standard amplification and resequencing protocols or with exome sequencing analysis. While evaluating the possible impact of a 3'UTR variant on the TCIRG1 expression, we found a novel single nucleotide change buried in the middle of intron 15 of the TCIRG1 gene, about 150 nucleotides away from the closest canonical splice site. By sequencing a number of independent cDNA clones covering exons 14 to 17, we demonstrated that this mutation reduced splicing efficiency but did not completely abrogate the production of the normal transcript. Prompted by this finding, we sequenced the same genomic region in 33 patients from our unresolved ARO cohort and found three additional novel single nucleotide changes in a similar location and with a predicted disruptive effect on splicing, further confirmed in one of them at the transcript level. Overall, we identified an intronic region in TCIRG1 that seems to be particularly prone to splicing mutations, allowing the production of a small amount of protein sufficient to reduce the severity of the phenotype usually associated with TCIRG1 defects. On this basis, we would recommend including TCIRG1 not only in the molecular work-up of severe infantile osteopetrosis but also in intermediate cases and carefully evaluating the possible effects of intronic changes. PMID:25829125

  16. Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.

    PubMed

    Palagano, Eleonora; Blair, Harry C; Pangrazio, Alessandra; Tourkova, Irina; Strina, Dario; Angius, Andrea; Cuccuru, Gianmauro; Oppo, Manuela; Uva, Paolo; Van Hul, Wim; Boudin, Eveline; Superti-Furga, Andrea; Faletra, Flavio; Nocerino, Agostino; Ferrari, Matteo C; Grappiolo, Guido; Monari, Marta; Montanelli, Alessandro; Vezzoni, Paolo; Villa, Anna; Sobacchi, Cristina

    2015-10-01

    Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and phenotypic heterogeneity, sometimes translating into delayed diagnosis and treatment. In particular, cases of intermediate severity often constitute a diagnostic challenge and represent good candidates for exome sequencing. Here, we describe the tortuous path to identification of the molecular defect in two siblings, in which osteopetrosis diagnosed in early childhood followed a milder course, allowing them to reach the adult age in relatively good conditions with no specific therapy. No clearly pathogenic mutation was identified either with standard amplification and resequencing protocols or with exome sequencing analysis. While evaluating the possible impact of a 3'UTR variant on the TCIRG1 expression, we found a novel single nucleotide change buried in the middle of intron 15 of the TCIRG1 gene, about 150 nucleotides away from the closest canonical splice site. By sequencing a number of independent cDNA clones covering exons 14 to 17, we demonstrated that this mutation reduced splicing efficiency but did not completely abrogate the production of the normal transcript. Prompted by this finding, we sequenced the same genomic region in 33 patients from our unresolved ARO cohort and found three additional novel single nucleotide changes in a similar location and with a predicted disruptive effect on splicing, further confirmed in one of them at the transcript level. Overall, we identified an intronic region in TCIRG1 that seems to be particularly prone to splicing mutations, allowing the production of a small amount of protein sufficient to reduce the severity of the phenotype usually associated with TCIRG1 defects. On this basis, we would recommend including TCIRG1 not only in the molecular work-up of severe infantile osteopetrosis but also in intermediate cases and carefully evaluating the possible effects of intronic changes.

  17. Osteopetrosis of the Temporal Bone Treated with Cochlear Implant.

    PubMed

    Szymanski, Marcin; Zasławska, Katarzyna; Trojanowska, Agnieszka; Szymanska, Anna; Zadrozniak, Marek

    2015-08-01

    Osteopetrosis is a heterogeneous group of skeletal disorders. It is a rare genetic disease caused by osteoclast dysfunction, leading to invalid bone desorption and remodeling and an increase in skeletal mass and density. We present the case of a 52-year-old female with osteopetrosis of the temporal bone. She reported loss of hearing in her left ear 14 years ago because of a head trauma. Four months ago, she was conservatively treated because of sudden sensorineural hearing loss in her right ear with no improvement. Her pure tone average audiogram was bilaterally 90 dB with 10% speech recognition. The patient was implanted with a cochlear implant. Except for the extremely thick and dense cortical bone of the mastoid, surgery was uneventful. Speech recognition 6 months after the surgery showed 75%. The results were stable for 3 years follow-up. Patients with profound hearing loss caused by osteopetrosis may benefit from cochlear implantation. PMID:26381012

  18. Osteopetrosis of the mandible masquerading as tubercular osteomyelitis

    PubMed Central

    Sharma, Subramanya S; Saravanan, C; Sathyabama, V; Satish, C

    2013-01-01

    Osteopetrosis is a rare congenital (autosomal type) disorder of the skeletal system. Several variants have been described in the literature with grossly variant prognosis and clinical behaviour. Several reports of intractable osteomyelitis of the jaw bones secondary to osteopetrosis, particularly the mandible, have been published widely. However, there is no published report of the complete mandible sequestrating de novo, in the literature. An overview of this spectrum of sclerotic bone disease, its presentation in the oro-facial region, the diagnostic challenge it poses and the management dilemma it offers to the maxillofacial surgeon is discussed and a protocol for managing this disease effectively is presented. A clinical illustration of the complexities of management of osteopetrosis-induced osteomyelitis of jaw bones is demonstrated with a very rare case in which the entire mandible had sequestrated. PMID:23314447

  19. Oral Rehabilitation of an Osteopetrosis Patient with Osteomyelitis

    PubMed Central

    Celakil, Tamer; Dogan, Merve; Rohlig, Bilge Gokcen; Evlioglu, Gulumser; Keskin, Haluk

    2016-01-01

    Osteopetrosis is a congenital disorder characterized by increasing osteoclastic function resulting in osteomyelitis in the jaws. Orofacial findings in osteopetrosis patients are unerupted, malformed, or delayed teeth and many dental caries due to vulnerable enamel and dentin and osteomyelitis. Many reports have described that maxilla is an uncommon site of occurrence for osteomyelitis due to cortical bone morphology and collateral circulation. This report aims to discuss clinical features and prosthodontic management of a patient with clinical features of adult form of osteopetrosis and osteomyelitis in both jaws. The patient has reported better masticatory and speech efficiency with removable dentures in maxillary and mandibular jaw and also self-esteem improvement and family interaction. PMID:27148461

  20. Osteopetrosis presenting with paroxysmal trigeminal neuralgia. A case report.

    PubMed

    Chindia, M L; Ocholla, T J; Imalingat, B

    1991-08-01

    Osteopetrosis is a rare disease of unknown aetiology. The relentless bone growth may progressively obliterate the various craniofacial skeletal foramina leading to nerve compression and a diversity of neurological disorders. A case is reported of a 37-year-old woman who was seen because of frequent attacks of paroxysmal trigeminal neuralgia (PTN); other orofacial neurologic deficits and generalised craniofacial skeletal thickening. The prompt recognition and management of associated disorders such as PTN is emphasized. Despite the lack of definitive treatment modalities for both osteopetrosis and PTN, the patient's quality of life must be sustained. PMID:1940495

  1. Osteopetrosis presenting with paroxysmal trigeminal neuralgia. A case report.

    PubMed

    Chindia, M L; Ocholla, T J; Imalingat, B

    1991-08-01

    Osteopetrosis is a rare disease of unknown aetiology. The relentless bone growth may progressively obliterate the various craniofacial skeletal foramina leading to nerve compression and a diversity of neurological disorders. A case is reported of a 37-year-old woman who was seen because of frequent attacks of paroxysmal trigeminal neuralgia (PTN); other orofacial neurologic deficits and generalised craniofacial skeletal thickening. The prompt recognition and management of associated disorders such as PTN is emphasized. Despite the lack of definitive treatment modalities for both osteopetrosis and PTN, the patient's quality of life must be sustained.

  2. A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient.

    PubMed

    Pangrazio, Alessandra; Frattini, Annalisa; Valli, Roberto; Maserati, Emanuela; Susani, Lucia; Vezzoni, Paolo; Villa, Anna; Al-Herz, Waleed; Sobacchi, Cristina

    2012-10-01

    Human malignant autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts. Mutations in the CLCN7 gene are responsible not only for a substantial portion of ARO patients but also for other forms of osteopetrosis characterized by different severity and inheritance. The lack of a clear genotype/phenotype correlation makes genetic counseling a tricky issue for CLCN7-dependent osteopetrosis. Here, we characterize the first homozygous interstitial deletion in 16p13.3, detected by array comparative genomic hybridization in an ARO patient of Jordanian origin. The deletion involved other genes besides CLCN7, while the proband displayed a classic ARO phenotype; however, her early death did not allow more extensive clinical investigations. The identification of this novel genomic deletion involving a large part of the CLCN7 gene is of clinical relevance, especially in prenatal diagnosis, and suggests the possibility that this kind of mutation has been underestimated so far. These data highlight the need for alternative approaches to genetic analysis also in other ARO-causative genes.

  3. Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report

    PubMed Central

    Kant, Priyanka; Sharda, Neelkamal; Bhowate, Rahul R.

    2013-01-01

    Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease have been recognized, autosomal dominant osteopetrosis being the most common. Autosomal dominant osteopetrosis exhibits a heterogeneous trait with milder symptoms, often at later childhood or adulthood. The aim of this case report is to present the clinical and radiographic features of a 35-year-old female patient with autosomal dominant osteopetrosis type II who exhibited features of chronic generalised periodontitis, and the radiographs revealed generalised osteosclerosis and hallmark radiographic features of ADO type II, that is, “bone-within-bone appearance” and “Erlenmeyer-flask deformity.” PMID:24260721

  4. A Deletion Mutation in Bovine SLC4A2 is Associated with Osteopetrosis in Red Angus Cattle

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Osteopetrosis is a skeletal disorder characterized by the formation of overly dense bones in affected humans and animals, resulting from a deficiency in the number and/or function of bone-resorbing osteoclast cells. In cattle, osteopetrosis can either be induced during gestation by viral infection ...

  5. Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2

    PubMed Central

    He, Dan; Rong, Pengfei; Xu, Hongbo; Yuan, Lamei; Li, Liu; Lu, Qian; Guo, Yi

    2016-01-01

    Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified. This variant cosegregated with the disorder in the family but was not observed in 800 controls. The data indicate that exome sequencing is a powerful and effective molecular diagnostic tool for detecting mutations in osteopetrosis, which is a genetically and clinically heterogeneous disorder. This discovery broadens the CLCN7 gene mutation spectrum and has important implications for clinical therapeutic regimen decisions, prognosis evaluations, and antenatal diagnoses. PMID:27325559

  6. Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.

    PubMed

    Deng, Hao; He, Dan; Rong, Pengfei; Xu, Hongbo; Yuan, Lamei; Li, Liu; Lu, Qian; Guo, Yi

    2016-01-01

    Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified. This variant cosegregated with the disorder in the family but was not observed in 800 controls. The data indicate that exome sequencing is a powerful and effective molecular diagnostic tool for detecting mutations in osteopetrosis, which is a genetically and clinically heterogeneous disorder. This discovery broadens the CLCN7 gene mutation spectrum and has important implications for clinical therapeutic regimen decisions, prognosis evaluations, and antenatal diagnoses. PMID:27325559

  7. Rapid Skeletal Turnover In A Radiographic Mimic Of Osteopetrosis

    PubMed Central

    Whyte, Michael P.; Madson, Katherine L.; Mumm, Steven; McAlister, William H.; Novack, Deborah V.; Blair, Jo C.; Helliwell, Timothy R.; Stolina, Marina; Abernethy, Laurence J.; Shaw, Nicholas J.

    2015-01-01

    Among the high bone mass disorders, the osteopetroses reflect osteoclast failure that prevents skeletal resorption and turnover leading to reduced bone growth and modeling and characteristic histopathological and radiographic findings. We report an 11-year-old boy with a new syndrome that radiographically mimics osteopetrosis but features rapid skeletal turnover. He presented at age 21 months with a parasellar, osteoclast-rich giant cell granuloma. Radiographs showed a dense skull, generalized osteosclerosis, and cortical thickening, medullary cavity narrowing, and diminished modeling of tubular bones. His serum alkaline phosphatase was > 5,000 IU/L (normal < 850). After partial resection, the granuloma re-grew but then regressed and stabilized during three years of uncomplicated pamidronate treatment. His hyperphosphatasemia transiently diminished but all bone turnover markers, especially those of apposition, remained elevated. Two years after pamidronate therapy stopped, BMD z-scores reached + 9.1 and + 5.8 in the lumbar spine and hip, respectively, and iliac crest histopathology confirmed rapid bone remodeling. Serum multiplex biomarker profiling was striking for low sclerostin. Mutation analysis was negative for activation of LRP4, LRP5, or TGFβ1 and for defective SOST, OPG, RANKL, RANK, SQSTM1, or sFRP1. Microarray showed no notable copy number variation. Studies of his non-consanguineous parents were unremarkable. The etiology and pathogenesis of this unique syndrome are unknown. PMID:24919763

  8. INFANTILE PARALYSIS

    PubMed Central

    1917-01-01

    At the recent Forty-fourth Annual Meetings of the American Public Health Association, Cincinnati, Ohio, there was held a Round Table Discussion on Infantile Paralysis, in which health authorities throughout the country took part. This discussion was held under the auspices of the Section on Public Health Administration. Dr. George W. Goler, Health Officer of Rochester, N. Y., Chairman of this Section, presided. We take great pleasure in being able to reproduce for readers of the Journal what took place at this most important session. PMID:18009618

  9. A case of cavernous sinus thrombophlebitis and meningitis as a complication in osteopetrosis.

    PubMed

    Chung, Hyun Chul; Park, So Hyun; Kim, Eun Sook; Kim, Young Il; Lee, Sun Ho; Nam-Goong, Il Seong

    2014-08-01

    Osteopetrosis is a rare genetic bone disease characterized by increased bone density but prone to breakage due to defective osteoclastic function. Among two primary types of autosomal dominant osteopetrosis (ADO), osteopetrosis type II is characterized by sclerosis of bones, predominantly involving the spine, the pelvis, and the skull base. Fragility of bones and dental abscess are leading complications. This report presents a case of osteopetrosis in a 52-years-old female, which was complicated by the development of cavernous sinus thrombophlebitis and meningitis. She was suffered from multiple fractures since one year ago. Laboratory data revealed elevated serum levels of tartrate resistant acid phosphatase (TRAP) without carbonic anhydrase II DNA mutation. A thoracolumbar spine X-ray showed, typical findings of ADO type II (ADO II; Albers-Schönberg disease), prominent vertebral endplates so called the 'rugger jersey spine'. Her older sister also showed same typical spine appearance. We report a case of ADO II with cavernous sinus thrombophlebitis and meningitis that was successfully treated with long-term antibiotics with right sphenoidotomy. PMID:25247162

  10. MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis

    ClinicalTrials.gov

    2016-08-15

    Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Glycoprotein Metabolic Disorders; Alpha Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Adrenoleukodystrophy; Peroxisomal Disorders; Osteopetrosis; Sphingolipidosis; Gangliosidosis; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann Pick B; Niemann Pick C Subtype 2; I-cell Disease

  11. Osteopetrosis Complicated by Osteomyelitis of the Maxilla and Mandible: Light and Electron Microscopic Findings

    PubMed Central

    Ribeiro, Michel Campos; Sverzut, Cassio Edvard; Bonucci, Ermanno; Nanci, Antonio; de Oliveira, Paulo Tambasco

    2009-01-01

    This report presents a case of osteopetrosis in a 25-year-old male, which was complicated by the development of osteomyelitis in the maxilla and mandible following traumatic injury and tooth extractions. The osteomyelitis in the mandible was refractory to marginal resection and antibiotic therapy. Partial resection with mandible reconstruction was then carried out. Light and backscattered electron scanning microscopy revealed sclerosis of spongy bone and variations in mineral density of the bone matrix. There was also a prominent periosteal bone formation in regions affected by osteomyelitis. An 18-month follow-up showed absence of active infections in the face and oral structures, with a focal area of bone exposure in the right parasymphysis. However, development of anemia and bone marrow deficiency will likely affect prognosis. The importance of preventive oral health care and dental/periodontal managements in osteopetrosis is emphasized. PMID:20596853

  12. Successful staged hip replacement in septic hip osteoarthritis in osteopetrosis: a case report

    PubMed Central

    2012-01-01

    Background Osteopetrosis is a rare, inherited, bone disorder, characterized by osteosclerosis, obliteration of the medullary cavity and calcified cartilage. The autosomal dominant form is compatible with a normal life span, although fractures often result from minimal trauma, due to the pathologic nature of bone. Osteomyelitis is common in patients with osteopetrosis because of a reduced resistance to infection, attributed to the lack of marrow vascularity and impairment of white cell function. Only one case of osteomyelitis of the proximal third of the femur has been previously reported, treated with several repeated debridements and finally with femoral head resection. Here we present for the first time a case of a staged implant of a cementless total hip prosthesis for the treatment of a septic hip in femoral neck nonunion in osteopetrosis. Case presentation A 36-years-old woman, affected by autosomal dominant osteopetrosis was referred to our department because of a septic hip arthritis associated with femoral neck septic non-union, with draining fistulas. The infection occurred early after a plate osteosynthesis for a closed perthrocanteric fracture of the femur and persisted in spite of osteosynthesis removal, surgical debridement and external fixation. In our hospital the patient underwent accurate debridement, femoral head and greater trochanter resection, preparation of the diaphyseal intramedullary canal and implant of an antibiotic-loaded cement spacer. The spacer was exchanged after one month, due to infection recurrence and four months later, a cementless total hip arthroplasty was implanted, with no clinical and laboratory signs of infection recurrence at two years follow-up. Conclusions In case of hip septic arthritis and proximal femur septic non-union, femoral head resection may not be the only option available and staged total hip arthroplasty can be considered. PMID:22472060

  13. Legg-Calvé-Perthes disease in a child with osteopetrosis

    PubMed Central

    Sims, Alex L.; Barwick, Thomas W.; Montgomery, Richard J.

    2011-01-01

    Osteopetrosis is a rare inherited disorder of bone causing increased bone density. Legg-Calvé-Perthes disease (LCPD), by contrast, is a more common idiopathic condition leading to variable avascular necrosis of the immature femoral head. We present a case of a 5-year-old boy presenting with these co-morbidities. We have found only one previous reference suggesting these two conditions can coexist in the literature. We discuss the basic principles of management of this interesting case. PMID:24765380

  14. Management of infantile spasms

    PubMed Central

    2015-01-01

    West syndrome, or infantile spasms syndrome is a frequently catastrophic infantile epileptic encephalopathy with a variety of etiologies. Despite the heterogeneous nature of causes of infantile spasms, a careful diagnostic evaluation can lead to diagnosis in many patients and may guide treatment choices. Magnetic resonance imaging (MRI) brain remains the highest yield initial study in determining the etiology in infantile spasms. Treatment of infantile spasms has little class I data, but adrenocorticotropic hormone (ACTH), prednisolone and vigabatrin have the best evidence as first-line medications. Other therapies including the ketogenic diet and other anti-epileptics medications may also prove useful in the treatment of infantile spasms. In general, more studies are needed to determine the best treatment regimen for this condition. Prognosis is generally poor, with the majority of patients having some or profound neurocognitive delays. Patients without delays at diagnosis and without an identifiable etiology, if treated appropriately, have the greatest likelihood of a normal outcome. PMID:26835388

  15. Effective Small Interfering RNA Therapy to Treat CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2

    PubMed Central

    Capulli, Mattia; Maurizi, Antonio; Ventura, Luca; Rucci, Nadia; Teti, Anna

    2015-01-01

    In about 70% of patients affected by autosomal dominant osteopetrosis type 2 (ADO2), osteoclast activity is reduced by heterozygous mutations of the CLCN7 gene, encoding the ClC-7 chloride/hydrogen antiporter. CLCN7G215R-, CLCN7R767W-, and CLCN7R286W-specific siRNAs silenced transfected mutant mRNA/EGFP in HEK293 cells, in RAW264.7 cells and in human osteoclasts, with no change of CLCN7WT mRNA and no effect of scrambled siRNA on the mutant transcripts. Osteoclasts from Clcn7G213R ADO2 mice showed reduced bone resorption, a condition rescued by Clcn7G213R-specific siRNA. Treatment of ADO2 mice with Clcn7G213R-specific siRNA induced increase of bone resorption variables and decrease of trabecular bone mass, leading to an overall improvement of the osteopetrotic bone phenotype. Treatment did not induce overt adverse effects and was effective also with siRNAs specific for other mutants. These results demonstrate that a siRNA-based experimental treatment of ADO2 is feasible, and underscore a translational impact for future strategy to cure this therapeutically neglected form of osteopetrosis. PMID:26325626

  16. Myeloid Deletion of Nemo Causes Osteopetrosis in Mice Owing to Upregulation of Transcriptional Repressors

    PubMed Central

    Swarnkar, Gaurav; Shim, Kyuhwan; Nasir, Amjad M.; Seehra, Kuljeet; Chen, Hung-Po (Tim); Mbalaviele, Gabriel; Abu-Amer, Yousef

    2016-01-01

    The transcription factor NF-κB is central to numerous physiologic processes including bone development, and its activation is controlled by IKKγ (also called NEMO), the regulatory subunit of IKK complex. NEMO is X-linked, and mutations in this gene result in Incontinentia Pigmenti in human hemizygous females. In mice, global deficiency causes embryonic lethality. In addition, certain point mutations in the NEMO (IKBKG) human gene manifest skeletal defects implicating NEMO in the regulation of bone homeostasis. To specifically investigate such role, we conditionally deleted Nemo from osteoclast and myeloid progenitors. Morphometric, histologic, and molecular analyses demonstrate that myeloid NEMO deletion causes osteopetrosis in mice. Mechanistically, NEMO deficiency hampered activation of IKK complex in osteoclast precursors, causing arrest of osteoclastogenesis and apoptosis. Interestingly, inhibiting apoptosis by genetic ablation of TNFr1 significantly increased cell survival, but failed to rescue osteoclastogenesis or reverse osteopetrosis. Based on this observation, we analyzed the expression of different regulators of osteoclastogenesis and discovered that NEMO deletion leads to increased RBPJ expression, resulting in a decrease of Blimp1 expression. Consequently, expression of IRF8 and Bcl6 which are targets of Blimp1 and potent osteoclastogenic transcriptional repressors, is increased. Thus, NEMO governs survival and osteoclast differentiation programs through serial regulation of multiple transcription factors. PMID:27435916

  17. Juvenile osteopetrosis: effects on blood and bone of prednisone and a low calcium, high phosphate diet.

    PubMed Central

    Dorantes, L M; Mejia, A M; Dorantes, S

    1986-01-01

    Four children with juvenile osteopetrosis are described who were treated with a combination of prednisone and a low calcium, high phosphate diet. One of the children, treated as a neonate, achieved complete clinical and radiological remission from the disease after nine months, at which point treatment was stopped. There have been no signs of recurrence for two years. Two who did not start treatment until over 24 months of age have shown a good clinical and radiological response but have remained on treatment for six years. The fourth child started treatment at 6 months and showed a good clinical response, but x ray films showed no change nine months later. He was then lost to follow up, stopped treatment, and died two years later of a septicaemia. These patients provide further evidence for the efficacy of steroids in juvenile osteopetrosis, and the combination with the low calcium, high phosphate diet described offers a potentially effective alternative treatment to marrow transplantation, both for the haematological and skeletal complications of the disorder. Images Fig. 1 Fig. 2 Fig. 3 PMID:3740906

  18. Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy

    PubMed Central

    Verma, Ritu; Jana, Manisha; Bhalla, Ashu Seith; Kumar, Arvind; Kumar, Rakesh

    2016-01-01

    Aural atresia is a rare congenital malformation of the external and middle ear. There are several syndromic associations of this anomaly with those involving the first and second branchial arches. Occurrence of aural atresia with sclerosing skeletal dysplasia is unknown and has never been reported. The co-existence of a sclerosing dysplasia can make the surgical treatment in aural atresia difficult and risky; and the auditory improvement may not be as expected. Moreover, internal auditory canal narrowing and hence sensorineural hearing loss in sclerosing dysplasia might add to the already existing conductive hearing loss in such patients. In this case report we have described an unknown association of bilateral microtia with sclerosing skeletal dysplasia (autosomal dominant osteopetrosis) and clinical implications of these two conditions occurring together leading to a change in the management plan. PMID:27170934

  19. Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy.

    PubMed

    Verma, Ritu; Jana, Manisha; Bhalla, Ashu Seith; Kumar, Arvind; Kumar, Rakesh

    2016-05-01

    Aural atresia is a rare congenital malformation of the external and middle ear. There are several syndromic associations of this anomaly with those involving the first and second branchial arches. Occurrence of aural atresia with sclerosing skeletal dysplasia is unknown and has never been reported. The co-existence of a sclerosing dysplasia can make the surgical treatment in aural atresia difficult and risky; and the auditory improvement may not be as expected. Moreover, internal auditory canal narrowing and hence sensorineural hearing loss in sclerosing dysplasia might add to the already existing conductive hearing loss in such patients. In this case report we have described an unknown association of bilateral microtia with sclerosing skeletal dysplasia (autosomal dominant osteopetrosis) and clinical implications of these two conditions occurring together leading to a change in the management plan. PMID:27170934

  20. Hypercalcemia and altered biochemical bone markers in post-bone marrow transplantation osteopetrosis: a case report and literature review.

    PubMed

    Kulpiya, Alisa; Mahachoklertwattana, Pat; Pakakasama, Samart; Hongeng, Suradej; Poomthavorn, Preamrudee

    2012-08-01

    Autosomal recessive osteopetrosis is a rare disorder of bone resorption defect that results in generalized sclerotic bones and bone marrow failure. Allogeneic BMT is the only treatment for cure. One of the complications following a successful BMT is hypercalcemia that is a unique complication in this group of patients. We report a three-yr-old boy with osteopetrosis who developed hypercalcemia following the successful BMT. His maximal calcium level was 13.3 mg/dL. Markedly increased both bone formation and resorption markers were demonstrated along with hypercalcemia. These findings indicated an active donor-derived osteoclastic function and thus bone resorption following the successful donor engraftment in the patient. Treatment with hyperhydration, furosemide and bone resorption inhibitors, calcitonin, and bisphosphonate led to normalization of the serum calcium level. Bone resorption but not bone formation marker was persistently elevated despite having normocalcemia during a 16.5-month follow-up period.

  1. Propranolol (Infantile Hemangioma)

    MedlinePlus

    Propranolol oral solution is used to treat proliferating infantile hemangioma (benign [noncancerous] growths or tumors appearing on or under ... Propranolol comes as an oral solution (liquid) to take by mouth. Propranolol oral solution is usually taken twice daily (9 hours apart) during or immediately ...

  2. An adult osteopetrosis model in medaka reveals the importance of osteoclast function for bone remodeling in teleost fish.

    PubMed

    To, Thuy Thanh; Witten, Paul Eckhard; Huysseune, Ann; Winkler, Christoph

    2015-12-01

    Osteoclasts play important roles during bone growth and in maintaining bone health and bone homeostasis. Dysfunction or lack of osteoclasts leads to increased bone mass and osteopetrosis phenotypes in mouse and human. Here we report a severe osteopetrosis-like phenotype in transgenic medaka fish, in which membrane bound EGFP (mEGFP) was expressed in osteoclasts under control of the cathepsin K promoter (ctsk:mEGFP). In contrast to reporter lines with GFP expression in the cytoplasm of osteoclasts, adult fish of the mEGFP line developed bone defects indicative for an osteoclast dysfunction. Activity of tartrate-resistant acid phosphatase (TRAP) was down-regulated and excess bone was observed in most parts of the skeleton. The osteopetrotic phenotype was particularly obvious at the neural and haemal arches that failed to increase their volume in growing fish. Excess bone caused severe constriction of the spinal cord and the ventral aorta. The continuation of tooth development and the failure to shed teeth resulted in severe hyperdontia. Interestingly, at the vertebral column vertebral body arches displayed a severe osteopetrosis, while vertebral centra had no or only a mild osteopetrotic phenotype. This confirms previous reports from cichlids that, different from the arches, allometric growth of fish vertebral centra initially does not depend on the action of osteoclasts. Independent developmental mechanism that shapes arches and vertebral centra can also lend support to the hypothesis that vertebral centra and arches function as independent developmental modules. Together, this medaka osteopetrosis model confirms the importance of proper osteoclast function during normal skeletal development in teleost fish that requires bone modeling and remodeling.

  3. Infantile tumoral calcinosis of the cervical spine presenting as torticollis.

    PubMed

    Ashraf, Ali; Diehn, Felix E; Luetmer, Patrick H; Lane, John I; Fritchie, Karen; Larson, A Noelle

    2016-01-01

    The computed tomography (CT) and MRI findings of infantile tumoral calcinosis and the utility of image-guided biopsy are demonstrated. A 5-month old presented with torticollis and a calcified cervical spinal mass. The radiologic appearance suggested a malignant neoplasm, prompting CT-guided biopsy, which diagnosed tumoral calcinosis. We hope to increase awareness of this entity and describe image-guided biopsy as a way to avoid morbidity associated with open biopsy.

  4. As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.

    PubMed

    Sobacchi, Cristina; Pangrazio, Alessandra; Lopez, Antonio González-Meneses; Gomez, Diego Pascual-Vaca; Caldana, Maria Elena; Susani, Lucia; Vezzoni, Paolo; Villa, Anna

    2014-07-01

    Mutations in the TCIRG1 gene, coding for a subunit of the osteoclast proton pump, are responsible for more than 50% of cases of human malignant autosomal recessive osteopetrosis (ARO), a rare inherited bone disease with increased bone density owing to a failure in bone resorption. A wide variety of mutations has been described, including missense, nonsense, small deletions/insertions, splice-site mutations, and large genomic deletions, all leading to a similar severe presentation. So far, to the best of our knowledge, no report of a mild phenotype owing to recessive TCIRG1 mutations is present neither in our series of more than 100 TCIRG1-dependent ARO patients nor in the literature. Here we describe an 8-year-old patient referred to us with a clinical diagnosis of ARO, based on radiological findings; of note, no neurological or hematological defects were present in this girl. Surprisingly, we identified a novel nucleotide change in intron 15 of the TCIRG1 gene at the homozygous state, leading to the production of multiple aberrant transcripts, but also, more importantly, of a limited amount of the normal transcript. Our results show that a low level of normal TCIRG1 protein can dampen the clinical presentation of TCIRG1-dependent ARO. On this basis, a small amount of protein might be sufficient to rescue, at least partially, the severe ARO phenotype, and this is particularly important when gene therapy approaches are considered. In addition, we would also recommend that the TCIRG1 gene be included in the molecular diagnosis of mild forms of human ARO.

  5. Intracranial infantile hemangiopericytoma.

    PubMed

    McHugh, Brian J; Baranoski, Jacob F; Malhotra, Ajay; Vortmeyer, Alexander O; Sze, Gordon; Duncan, Charles C

    2014-08-01

    Intracranial infantile hemangiopericytomas (HPCs) are exceedingly rare lesions. Only 11 cases have been previously reported in the literature. As such, little is known about the etiology, long-term prognosis, and optimal treatment paradigm. Clinically, they are consistently less aggressive than those in adults. The authors present the case of a 2-month-old boy with an intracranial HPC, review the available literature, discuss the evolving concepts of what defines an HPC, and offer a potential explanation to how HPC histology might relate to the clinical behavior of these lesions.

  6. Neonatal Abdominal Hemangiomatosis: Propranolol beyond Infantile Hemangioma

    PubMed Central

    Nip, Siu Ying Angel; Hon, Kam Lun; Leung, Wing Kwan Alex; Leung, Alexander K. C.; Choi, Paul C. L.

    2016-01-01

    Hemangioma is the most common vascular tumor of infancy; presentation is often as cutaneous infantile hemangioma (IH). Cutaneous hemangioma is a clinical diagnosis. Most IHs follow a benign course, with complete involution without treatment in the majority of cases. Visceral hemangioma often involves the liver and manifests as a life-threatening disorder. Hepatic hemangiomas may be associated with high output cardiac failure, coagulopathy, and hepatomegaly which generally develop between 1 and 16 weeks of age. Mortality has been reportedly high without treatment. We report a rare case of a male infant with neonatal hemangiomatosis with diffuse peritoneal involvement, which mimicked a malignant-looking tumor on imaging, and discuss therapeutic options and efficacy. Propranolol is efficacious for IH but generally not useful for other forms of vascular hemangiomas, tumors, and malformations. In our case of neonatal peritoneal hemangiomatosis, propranolol appears to have halted the growth and possibly expedite the involution of the hemangiomatosis without other treatments. PMID:27110421

  7. Pathogenesis of infantile hemangiomas.

    PubMed

    Uihlein, Lily Changchien; Liang, Marilyn G; Mulliken, John B

    2012-08-01

    1.Review the key features of the life cycle of infantile hemangiomas.2.Highlight cellular and molecular pathways involved in hemangioma-genesis.3.Discuss theories that may account for hemangioma-genesis.In the past, it was believed that a mother's visual impressions or behavior during pregnancy caused the growth of infantile hemangioma in her unborn child. She might have had an excessive craving for strawberries, witnessed the slaughter of an animal, directly contacted human or animal blood, or mocked a child with a similar birthmark.1 This folklore began to slowly fade once hemangiomas were examined through the light microscope. In 1863, Virchow2 suggested that hemangiomas are composed of proliferating new blood vessels resulting from progressive irritation of tissue. In 1933, Laidlow and Murray3 proposed a phylogenetic origin for hemangiomas and hypothesized that hemangiomas are remnants of vascular tufts functioning as accessory lungs for primitive amphibia. Pack and Miller4 (1950) hypothesized that hemangiomas develop from embryonic islands of angioblastic cells that were isolated from the systemic vasculature during fetal development. PMID:22881413

  8. Role of RANKL (TNFSF11)-Dependent Osteopetrosis in the Dental Phenotype of Msx2 Null Mutant Mice

    PubMed Central

    Castaneda, Beatriz; Simon, Yohann; Ferbus, Didier; Robert, Benoit; Chesneau, Julie; Mueller, Christopher

    2013-01-01

    The MSX2 homeoprotein is implicated in all aspects of craniofacial skeletal development. During postnatal growth, MSX2 is expressed in all cells involved in mineralized tissue formation and plays a role in their differentiation and function. Msx2 null (Msx2−/−) mice display complex craniofacial skeleton abnormalities with bone and tooth defects. A moderate form osteopetrotic phenotype is observed, along with decreased expression of RANKL (TNFSF11), the main osteoclast-differentiating factor. In order to elucidate the role of such an osteopetrosis in the Msx2−/− mouse dental phenotype, a bone resorption rescue was performed by mating Msx2−/− mice with a transgenic mouse line overexpressing Rank (Tnfrsf11a). Msx2−/− RankTg mice had significant improvement in the molar phenotype, while incisor epithelium defects were exacerbated in the enamel area, with formation of massive osteolytic tumors. Although compensation for RANKL loss of function could have potential as a therapy for osteopetrosis, but in Msx2−/− mice, this approach via RANK overexpression in monocyte-derived lineages, amplified latent epithelial tumor development in the peculiar continuously growing incisor. PMID:24278237

  9. Pathogenesis of infantile haemangioma.

    PubMed

    Greenberger, S; Bischoff, J

    2013-07-01

    Haemangioma is a vascular tumour of infancy that is well known for its rapid growth during the first weeks to months of a child's life, followed by a spontaneous but slow involution. During the proliferative phase, the vessels are disorganized and composed of immature endothelial cells. When the tumour involutes, the vessels mature and enlarge but are reduced in number. Fat, fibroblasts and connective tissue replace the vascular tissue, with few, large, feeding and draining vessels evident. Both angiogenesis and vasculogenesis have been proposed as mechanisms contributing to the neovascularization in haemangioma tumours. In recent years, several of the 'building blocks', the cells comprising the haemangioma, have been isolated. Among them are haemangioma progenitor/stem cells, endothelial cells and pericytes. This review focuses on these cell types, and the molecular pathways within these cells that have been implicated in driving the pathogenesis of infantile haemangioma.

  10. Msx2 -/- transgenic mice develop compound amelogenesis imperfecta, dentinogenesis imperfecta and periodental osteopetrosis.

    PubMed

    Aïoub, M; Lézot, F; Molla, M; Castaneda, B; Robert, B; Goubin, G; Néfussi, J R; Berdal, A

    2007-11-01

    The physiological function of the transcription factor Msx2 in tooth and alveolar bone was analysed using a knock-in transgenic mouse line. In this mouse line, the beta-galactosidase gene was used to disrupt Msx2: thus, beta-galactosidase expression was driven by the Msx2 promoter, but Msx2 was not produced. This allowed to monitor Msx2 expression using a beta-galactosidase assay. Msx2 transgenic mice ubiquitously and continuously expressed the mutated Msx2-nlacZ gene in cells of the complex formed by tooth and alveolar bone. Msx2 -/- homozygous mice displayed a wide spectrum of alterations in tooth eruption and morphology as well as dental and periodontal defects from the first post-natal weeks up to 6 months. These defects culminated with the formation of an odontogenic tumour at the mandibular third molar site. This study suggests that bone resorption is a functional target of Msx2 in the alveolar compartment, since Msx2 was expressed in osteoclasts, with the highest expression levels found in the active sites of bone modelling associated with tooth eruption and root elongation. The RANK osteoclast differentiation pathway was affected in microdissected Msx2 -/- mouse alveolar bone (as inferred by RANK ligand mRNA levels) compared to basal bone and wild-type controls. Decreased alveolar osteoclast activity was observed in Msx2 -/- mice, similar to that seen in osteopetrosis, another condition in which osteoclast activity is impaired and odontogenic tumours form. These data suggest a pleiotropic role for Msx2 in oral bone growth from birth until adult homeostasis. RANK pathway appeared to be modulated by Msx2, in addition to the previously reported modulations of BMP4 and laminin5alpha3 in early tooth development. Non-overlapping Msx1 and Msx2 expression patterns suggested that these two homeogenes play non-redundant roles in skeletal growth, with Msx1 targeting basal bone and Msx2 targeting alveolar bone. This study provides a detailed analysis of the phenotype

  11. Infantile scurvy: a historical perspective.

    PubMed

    Rajakumar, K

    2001-10-01

    Scurvy, a disease of dietary deficiency of vitamin C, is uncommon today. Among diseases, scurvy has a rich history and an ancient past. The Renaissance (14th to 16th centuries) witnessed several epidemics of scurvy among sea voyagers. In 1747, James Lind, a British Naval surgeon, performed a carefully designed clinical trial and concluded that oranges and lemons had the most antiscorbutic effect. Eventually, with the provision of lemon juice to the sea voyagers, scurvy became rare at sea. Infantile scurvy appeared almost as a new disease toward the end of the 19th century. The increased incidence of infantile scurvy during that period was attributed to the usage of heated milk and proprietary foods. Thomas Barlow described the classic clinical and pathologic features of infantile scurvy in 1883. Between 1907 and 1912, Holst and Frolich induced and cured scurvy in guinea pigs by dietary modification. In 1914, Alfred Hess established that pasteurization reduced the antiscorbutic value of milk and recommended supplementation of fresh fruit and vegetable juices to prevent scurvy. Such pioneering efforts led to the eradication of infantile scurvy in the United States. A brief history of infantile scurvy is provided. PMID:11581484

  12. Targeted disruption of the Cl−/HCO3− exchanger Ae2 results in osteopetrosis in mice

    PubMed Central

    Josephsen, Kaj; Praetorius, Jeppe; Frische, Sebastian; Gawenis, Lara R.; Kwon, Tae-Hwan; Agre, Peter; Nielsen, Søren; Fejerskov, Ole

    2009-01-01

    Osteoclasts are multinucleated bone-resorbing cells responsible for constant remodeling of bone tissue and for maintaining calcium homeostasis. The osteoclast creates an enclosed space, a lacuna, between their ruffled border membrane and the mineralized bone. They extrude H+ and Cl− into these lacunae by the combined action of vesicular H+-ATPases and ClC-7 exchangers to dissolve the hydroxyapatite of bone matrix. Along with intracellular production of H+ and HCO3− by carbonic anhydrase II, the H+-ATPases and ClC-7 exchangers seems prerequisite for bone resorption, because genetic disruption of either of these proteins leads to osteopetrosis. We aimed to complete the molecular model for lacunar acidification, hypothesizing that a HCO3− extruding and Cl− loading anion exchange protein (Ae) would be necessary to sustain bone resorption. The Ae proteins can provide both intracellular pH neutrality and serve as cellular entry mechanism for Cl− during bone resorption. Immunohistochemistry revealed that Ae2 is exclusively expressed at the contra-lacunar plasma membrane domain of mouse osteoclast. Severe osteopetrosis was encountered in Ae2 knockout (Ae2−/−) mice where the skeletal development was impaired with a higher diffuse radio-density on x-ray examination and the bone marrow cavity was occupied by irregular bone speculae. Furthermore, osteoclasts in Ae2−/− mice were dramatically enlarged and fail to form the normal ruffled border facing the lacunae. Thus, Ae2 is likely to be an essential component of the bone resorption mechanism in osteoclasts. PMID:19164575

  13. Infantile amnesia: a neurogenic hypothesis.

    PubMed

    Josselyn, Sheena A; Frankland, Paul W

    2012-08-16

    In the late 19th Century, Sigmund Freud described the phenomenon in which people are unable to recall events from early childhood as infantile amnesia. Although universally observed, infantile amnesia is a paradox; adults have surprisingly few memories of early childhood despite the seemingly exuberant learning capacity of young children. How can these findings be reconciled? The mechanisms underlying this form of amnesia are the subject of much debate. Psychological/cognitive theories assert that the ability to maintain detailed, declarative-like memories in the long term correlates with the development of language, theory of mind, and/or sense of "self." However, the finding that experimental animals also show infantile amnesia suggests that this phenomenon cannot be explained fully in purely human terms. Biological explanations of infantile amnesia suggest that protracted postnatal development of key brain regions important for memory interferes with stable long-term memory storage, yet they do not clearly specify which particular aspects of brain maturation are causally related to infantile amnesia. Here, we propose a hypothesis of infantile amnesia that focuses on one specific aspect of postnatal brain development--the continued addition of new neurons to the hippocampus. Infants (humans, nonhuman primates, and rodents) exhibit high levels of hippocampal neurogenesis and an inability to form lasting memories. Interestingly, the decline of postnatal neurogenesis levels corresponds to the emergence of the ability to form stable long-term memory. We propose that high neurogenesis levels negatively regulate the ability to form enduring memories, most likely by replacing synaptic connections in preexisting hippocampal memory circuits.

  14. Infantile refsum disease: case report.

    PubMed

    Choksi, Vaishali; Hoeffner, Ellen; Karaarslan, Ercan; Yalcinkaya, Cengiz; Cakirer, Sinan

    2003-01-01

    Infantile Refsum disease is a rare inborn error of phytanic acid metabolism. It is inherited in an autosomal recessive manner and frequently causes signs and symptoms in the neonate period. The only source of phytanic acid in humans is exogenous, from diet. We report the MR imaging findings in two cases of infantile Refsum disease and note the MR imaging changes that occurred over time because of further progression of the disease. The initial diagnosis in both patients was made on basis of history, clinical findings, and biochemical studies.

  15. Modeling new therapies for infantile spasms

    PubMed Central

    Chudomelova, Lenka; Scantlebury, Morris H.; Raffo, Emmanuel; Coppola, Antonietta; Betancourth, David; Galanopoulou, Aristea S.

    2010-01-01

    Summary Infantile spasms are the classical seizure type of West syndrome. Infantile spasms often herald a dismal prognosis, due to the high probability to evolve into intractable forms of epilepsies with significant cognitive deficits, especially if not adequately treated. The current therapies, high doses of adrenocorticotropic hormone, steroids or the GABA transaminase inhibitor vigabatrin, are often toxic and may not always be effective. The need to identify new therapies for spasms has led to the generation of a number of rodent models of infantile spasms. These include acute and chronic models of infantile spasms, with cryptogenic or symptomatic origin, many of which are based on specific etiologies. In this review, we will summarize the clinical experience with treating infantile spasms, the main features of the new animal models of infantile spasms and discuss their utility in the preclinical development of new therapies for infantile spasms. PMID:20618396

  16. Malignant adenolymphoma.

    PubMed

    Moosavi, H; Ryan, C; Schwartz, S; Donnelly, J A

    1980-01-01

    Adenolymphoma (Warthin's tumor) is a well studied benign tumor of the salivary gland. Malignant transformation of such a tumor is rare and not well documented in the literature. The light microscopic and ultrastructural features of an undifferentiated carcinoma arising in an adenolymphoma in the parotid gland of a middle aged male are described, and the relevant literature is reviewed. Similarities between the benign adenolymphoma and the undifferentiated malignant tumor, such as the presence of interstitial lymphoplasmacytic cell infiltrates, dark and light epithelial cells, similar cytoplasmic organelles, and nuclear morphology, suggest a malignant transformation of a previously existing benign adenolymphoma.

  17. Distinct roles of enhancer nuclear factor 1 (NF1) sites in plasmacytoma and osteopetrosis induction by Akv1-99 murine leukemia virus

    SciTech Connect

    Sorensen, Karina Dalsgaard; Sorensen, Annette Balle; Quintanilla-Martinez, Leticia; Kunder, Sandra; Schmidt, Joerg; Pedersen, Finn Skou . E-mail: fsp@mb.au.dk

    2005-04-10

    Murine leukemia viruses (MLVs) can be lymphomagenic and bone pathogenic. In this work, the possible roles of two distinct proviral enhancer nuclear factor 1 (NF1) binding sites in osteopetrosis and tumor induction by B-lymphomagenic Akv1-99 MLV were investigated. Akv1-99 and mutants either with NF1 site 1, NF1 site 2 or both sites disrupted induced tumors (plasma cell proliferations by histopathology) with remarkably similar incidence and mean latency in inbred NMRI mice. Clonal immunoglobulin gene rearrangement detection, by Southern analysis, confirmed approximately half of the tumors induced by each virus to be plasmacytomas while the remaining lacked detectable clonally rearranged Ig genes and were considered polyclonal; a demonstration that enhancer NF1 sites are dispensable for plasmacytoma induction by Akv1-99. In contrast, X-ray analysis revealed significant differences in osteopetrosis induction by the four viruses strongly indicating that NF1 site 2 is critical for viral bone pathogenicity, whereas NF1 site 1 is neutral or moderately inhibitory. In conclusion, enhancer NF1 sites are major determinants of osteopetrosis induction by Akv1-99 without significant influence on viral oncogenicity.

  18. Malignant hyperthermia.

    PubMed

    Brockhouse, R T

    1979-04-01

    A case has been presented that illustrates successful managment of a patient with suspected malignant hyperthermia. The causes of this disorder are uncertain. If screening procedures identify a patient as susceptible to this disorder, careful planning in the preoperative stage is indicated. Preparedness during the operative procedure for any emergency is mandatory. Early and effective treatment seems to be the only method of preventing mortality with patients experiencing malignant hyperthermia. PMID:285135

  19. Malignant oncocytoma.

    PubMed

    Laurian, N; Zohar, Y; Kende, L

    1977-09-01

    A case of malignant oncocytoma of the parotid gland in a 32-year-old male is presented. Ten months after parotidectomy an undifferentiated carcinoma, in which oncocytes still could be recognized, developed in the operated area. According to the literature available to us, this is the second reported case in which malignant transformation in a benign oncocytoma of the salivary gland has been observed.

  20. Neonatal and infantile acne vulgaris: an update.

    PubMed

    Serna-Tamayo, Cristian; Janniger, Camila K; Micali, Giuseppe; Schwartz, Robert A

    2014-07-01

    Acne may present in neonates, infants, and small children. Neonatal and infantile acne vulgaris are not considered to be rare. The presentation of acne in this patient population sometimes represents virilization and may portend later development of severe adolescent acne. Neonatal and infantile acne vulgaris must be distinguished from other cutaneous disorders seen in newborns and infants. Infantile acne tends to be more pleomorphic and inflammatory, thus requiring more vigorous therapy than neonatal acne.

  1. Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3.

    PubMed

    Bénichou, O; Cleiren, E; Gram, J; Bollerslev, J; de Vernejoul, M C; Van Hul, W

    2001-09-01

    The osteopetroses are a heterogeneous group of conditions characterized by a bone-density increase due to impaired bone resorption. As well as the two or more autosomal recessive types, two autosomal dominant forms of osteopetrosis, differentiated by clinical and radiological signs, are described. Autosomal dominant osteopetrosis (ADO) type II, also known as "Albers-Schönberg disease," is characterized by sclerosis, predominantly involving the spine (vertebral end-plate thickening, or Rugger-Jersey spine), the pelvis ("bone-within-bone" structures), and the skull base. An increased fracture rate can be observed in these patients. By linkage analysis, the presence, on chromosome 1p21, of a gene causing ADO type II was previously suggested. However, analysis of further families with ADO type II indicated genetic heterogeneity within ADO type II, with the chromosome 1p21 locus being only a minor locus. We now perform a genomewide linkage scan of a French extended family with ADO type II, which allows us to localize an ADO type II gene on chromosome 16p13.3. Analysis of microsatellite markers in five further families with ADO type II could not exclude this chromosomal region. A summed maximum LOD score of 12.70 was generated with marker D16S3027, at a recombination fraction (straight theta) of 0. On the basis of the key recombinants in the families, a candidate region of 8.4 cM could be delineated, flanked by marker D16S521, on distal side, and marker D16S423, on the proximal side. Surprisingly, one of the families analyzed is the Danish family previously suggested to have linkage to chromosome 1p21. Linkage to chromosome 16p13.3 clearly cannot be excluded in this family, since a maximum LOD score of 4.21 at theta=0 is generated with marker D16S3027. Because at present no other family with ADO type II has proved to have linkage to chromosome 1p21, we consider the most likely localization of the disease-causing gene in this family to be to chromosome 16p13.3. This thus

  2. Pleural malignancies.

    PubMed

    Vargas, F S; Teixeira, L R

    1996-07-01

    Carcinoma of the lung, metastatic breast carcinoma, and lymphoma are responsible for approximately 75% of all malignant pleural effusions. The presence of malignant cells in the pleural fluid or in the parietal pleura confirms the diagnosis. Recently, several authors have proposed the combination of morphometric procedures and quantitative analysis of nucleolar organizer regions stained by silver nitrate. Videothoracoscopy is recommended for patients suspected of having a malignant pleural effusion in whom the diagnosis is not established after two cytologic studies of the fluid and one needle biopsy. The standard treatment is the intrapleural instillation of a chemical agent to produce a pleurodesis. The recommended sclerosant is talc, a tetracycline derivative, or Corynebacterium parvum where it is available. When a patient is not an ideal candidate for chemical pleurodesis, the options include symptomatic treatment, serial thoracentesis, implantation of a pleuroperitoneal shunt, and pleurectomy. PMID:9363162

  3. [Pathogenesis of infantile cerebral palsy].

    PubMed

    Semenova, K A

    1980-01-01

    Some causes of the pathological activity of postural reflexes and other motor disturbances underlying the clinical picture of infantile cerebral paralysis are considered. It is shown that disturbed metabolism of corticosteroids observed in that disease, as well as impaired functional activity of T lymphocytes promote the development of both inflammatory and neuroimmune processes in the brain, mainly in large hemispheres--and this may be one of the causes of the pathological postural activity. PMID:6969015

  4. Hematologic malignancies

    SciTech Connect

    Hoogstraten, B.

    1986-01-01

    The principle aim of this book is to give practical guidelines to the modern treatment of the six important hematologic malignancies. Topics considered include the treatment of the chronic leukemias; acute leukemia in adults; the myeloproliferative disorders: polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis/agnogenic myeloid metaplasia; Hodgkin's Disease; non-Hodgkin's lymphoma; and Multiple Myeloma.

  5. Malignant hyperthermia.

    PubMed

    Taiclet, L

    1985-01-01

    Despite numerous reviews and clinical reports, much remains to be learned about the cause, treatment, and prevention of malignant hyperthermia.Among the most worrisome concerns of the clinician administering anesthesia is the malignant hyperthermia crisis. When it arises, it is always frightening-and sometimes fatal. Usually occurring very suddenly and without warning, malignant hyperthermia is considered to be a hypercatabolic crisis; the condition is known to affect humans and certain breeds of pigs. The exact triggering mechanisms of malignant hyperthermia (MH) in humans are not known, but a crisis can be initiated by volatile general anesthetics, neuromuscular blocking agents, and amide local anesthetics. Although a history of an MH crisis is a diagnostic aid, previous uneventful exposure to anesthesia does not guarantee the safety of the patient in subsequent anesthetic procedures.(1) For these reasons, it is important for the anesthesiologist to be aware of the initial signs of MH and to be prepared to provide immediate treatment to reverse such a crisis. PMID:3865561

  6. Malignant hyperthermia.

    PubMed Central

    Ben Abraham, R.; Adnet, P.; Glauber, V.; Perel, A.

    1998-01-01

    Malignant hyperthermia is a rare autosomal dominant trait that predisposes affected individuals to great danger when exposed to certain anaesthetic triggering agents (such as potent volatile anaesthetics and succinylcholine). A sudden hypermetabolic reaction in skeletal muscle leading to hyperthermia and massive rhabdomyolysis can occur. The ultimate treatment is dantrolene sodium a nonspecific muscle relaxant. Certain precautions should be taken before anaesthesia of patients known to be susceptible to malignant hyperthermia. These include the prohibition of the use of triggering agents, monitoring of central body temperature and expired CO2, and immediate availability of dantrolene. In addition, careful cleansing of the anaesthesia machine of vapours of halogenated agents is recommended. If these measures are taken, the chances of an MH episode are greatly reduced. When malignant hyperthermia-does occur in the operating room, prompt recognition and treatment usually prevent a potentially fatal outcome. The most reliable test to establish susceptibility to malignant hyperthermia is currently the in vitro caffeine-halothane contracture test. It is hoped that in the future a genetic test will be available. PMID:9538480

  7. [Infantile autism, psychoanalytic research and scientific status].

    PubMed

    Golse, B

    1993-01-01

    After emphasizing the very modern aspect of psychoanalytic epistemology, the author shows how psychoanalytical research applied to the issue of infantile autism concentrates the maximum of difficulties and is therefore vulnerable to critics from the "hard" sciences. Some tentative answers are proposed in reference to the narrative sciences. The author then suggests various tracks for the psychoanalytical research in the field of infantile autism.

  8. Infantile spasms: A prognostic evaluation

    PubMed Central

    Iype, Mary; Saradakutty, Geetha; Kunju, Puthuvathra Abdul Mohammed; Mohan, Devi; Nair, Muttathu Krishnapanicker Chandrasekharan; George, Babu; Ahamed, Shahanaz M.

    2016-01-01

    Background: Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome. Objective: We aimed to follow up children with infantile spasms to study: a) the etiology, demographics, semiology, electroencephalogram (EEG), and radiological pattern; b) seizure control, psychomotor development, and EEG resolution with treatment; c) the effects of various factors on the control of spasms, resolution of EEG changes, and psychomotor development at 3-year follow-up. Materials and Methods: Fifty newly diagnosed cases with a 1-12 month age of onset and who had hypsarrhythmia in their EEG were recruited and 43 were followed up for 3 years. Results: Of the children followed up, 51% were seizure-free and 37% had a normal EEG at the 3-year follow-up. Autistic features were seen in 74% of the children. Only 22.7% among the seizure-free (11.6% of the total) children had normal vision and hearing, speech with narration, writing skills, gross and fine motor development, and no autism or hyperactivity. On multivariate analysis, two factors could predict bad seizure outcome — the occurrence of other seizures in addition to infantile spasms and no response to 28 days of adrenocorticotropic hormone (ACTH). No predictor could be identified for abnormal psychomotor development. Discussion and Conclusion: In our study, we could demonstrate two factors that predict seizure freedom. The cognitive outcome and seizure control in this group of children are comparable to the existing literature. However, the cognitive outcome revealed by our study and the survey of the literature are discouraging. PMID:27293335

  9. Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology.

    PubMed

    Coudert, Amélie E; Del Fattore, Andrea; Baulard, Céline; Olaso, Robert; Schiltz, Corinne; Collet, Corinne; Teti, Anna; de Vernejoul, Marie-Christine

    2014-03-01

    Autosomal dominant osteopetrosis type II (ADO II) is a rare, heritable bone disorder characterized by a high bone mass and insufficient osteoclast activity. Mutations in the CLCN7 gene have been reported to cause ADO II. To gain novel insights into the pathways dysregulated in ADOII osteoclasts, we identified changes in gene expression in osteoclasts from patients with a heterozygous mutation of CLCN7. To do this, we carried out a transcriptomic study comparing gene expression in the osteoclasts of patients with ADO II and healthy donors. Our data show that, according to our selection criteria, 182 genes were differentially expressed in osteoclasts from patients and controls. From the 18 displaying the highest change in microarray, we confirmed differential expression for seven by qPCR. Although two of them have previously been found to be expressed in osteoclasts (ITGB5 and SERPINE2), the other five (CES1 (carboxyl esterase 1), UCHL1 (ubiquitin carboxy-terminal esterase L1, also known as ubiquitin thiolesterase), WARS (tryptophanyl-tRNA synthetase), GBP4 (guanylate-binding protein 4), and PRF1) are not yet known to have a role in this cell type. At the protein level, we confirmed elevated expression of ITGB5 and reduced expression of WARS, PRF1, and SERPINE2. Transfection of ClC-7 harboring the G215R mutation into osteoclasts resulted in an increased ITGB5 and reduced PRF1 expression of borderline significance. Finally, we observed that the ADO II patients presented a normal or increased serum level of bone formation markers, demonstrating a coupling between dysfunctional osteoclasts and osteoblasts. Sphingosine kinase 1 mRNA was expressed at the same level in ADO II and control osteoclasts. In conclusion, these data suggest that in addition to an acidification dysfunction caused by the CLCN7 mutation, a change in ITGB5, PRF1, WARS, and SERPINE2 expression could be part of the osteoclastic phenotype of ADO II.

  10. Malignant hyperthermia.

    PubMed

    Cantin, R Y; Poole, A; Ryan, J F

    1986-10-01

    The increasing use of intravenous and inhalation sedation in the dental office has the potential of increasing the incidence of malignant hyperthermia (MH) in susceptible subjects. The object of this article is to present two cases of MH and to discuss its pathophysiology, its clinical picture, and its management in the light of the current literature. Stringent screening procedures should be adopted and maintained in order to channel suspected cases to appropriate centers for expert consultation and management. It is further advocated that a program of education for patients and their families be instituted, as it is an essential prerequisite of effective prophylaxis. PMID:2946013

  11. Infantile Colic: Recognition and Treatment.

    PubMed

    Johnson, Jeremy D; Cocker, Katherine; Chang, Elisabeth

    2015-10-01

    Infantile colic is a benign process in which an infant has paroxysms of inconsolable crying for more than three hours per day, more than three days per week, for longer than three weeks. It affects approximately 10% to 40% of infants worldwide and peaks at around six weeks of age, with symptoms resolving by three to six months of age. The incidence is equal between sexes, and there is no correlation with type of feeding (breast vs. bottle), gestational age, or socioeconomic status. The cause of infantile colic is not known; proposed causes include alterations in fecal microflora, intolerance to cow's milk protein or lactose, gastrointestinal immaturity or inflammation, increased serotonin secretion, poor feeding technique, and maternal smoking or nicotine replacement therapy. Colic is a diagnosis of exclusion after a detailed history and physical examination have ruled out concerning causes. Parental support and reassurance are key components of the management of colic. Simethicone and proton pump inhibitors are ineffective for the treatment of colic, and dicyclomine is contraindicated. Treatment options for breastfed infants include the probiotic Lactobacillus reuteri (strain DSM 17938) and reducing maternal dietary allergen intake. Switching to a hydrolyzed formula is an option for formula-fed infants. Evidence does not support chiropractic or osteopathic manipulation, infant massage, swaddling, acupuncture, or herbal supplements. PMID:26447441

  12. Skeletal manifestations of infantile scurvy.

    PubMed

    Brickley, Megan; Ives, Rachel

    2006-02-01

    Recent investigations of human skeletal material from the historic St. Martin's cemetery, England, found a range of abnormal lesions in six infants that are almost certainly related to scurvy. Porous and proliferative bone lesions affecting the cranial bones and scapulae were found, and this paper presents images obtained using both macroscopic and scanning electron microscope examination of the lesions. Previous work on infantile scurvy (Ortner et al., 1997-2001) relied heavily on changes at the sphenoid, which is often missing in archaeological bone, so the identification of changes attributable to scurvy on other cranial bones and the scapulae is encouraging. The ability to recognize changes related to scurvy on a range of bones will ensure an enhanced potential for recognition of this disease in future research involving archaeological bone. Research on historical documents from Birmingham dating to the eighteenth and nineteenth centuries, combined with the probable cases of scurvy identified, supports the view that the paucity of cases of infantile scurvy from the archaeological record reflects a lack of understanding and recognition of bone manifestations, rather than a lack of occurrence in this period. Changes linked to scurvy were only found in infants from the poorer sections of the community from St. Martin's, and this is almost certainly linked to patterns of food consumption and may be related to shortages of potatoes, due to blight, experienced during this period.

  13. Malignant hyperthermia

    PubMed Central

    2012-01-01

    Malignant hyperthermia (MH) is an uncommon, life-threatening pharmacogenetic disorder of the skeletal muscle. It presents as a hypermetabolic response in susceptible individuals to potent volatile anesthetics with/without depolarizing muscle relaxants; in rare cases, to stress from exertion or heat stress. Susceptibility to malignant hyperthermia (MHS) is inherited as an autosomally dominant trait with variable expression and incomplete penetrance. It is known that the pathophysiology of MH is related to an uncontrolled rise of myoplasmic calcium, which activates biochemical processes resulting in hypermetabolism of the skeletal muscle. In most cases, defects in the ryanodine receptor are responsible for the functional changes of calcium regulation in MH, and more than 300 mutations have been identified in the RYR1 gene, located on chromosome 19q13.1. The classic signs of MH include increase of end-tidal carbon dioxide, tachycardia, skeletal muscle rigidity, tachycardia, hyperthermia and acidosis. Up to now, muscle contracture test is regarded as the gold standard for the diagnosis of MHS though molecular genetic test is used, on a limited basis so far to diagnose MHS. The mortality of MH is dramatically decreased from 70-80% to less than 5%, due to an introduction of dantrolene sodium for treatment of MH, early detection of MH episode using capnography, and the introduction of diagnostic testing for MHS. This review summarizes the clinically essential and important knowledge of MH, and presents new developments in the field. PMID:23198031

  14. Early Infantile Autism and Autistic Psychopathy

    ERIC Educational Resources Information Center

    Van Krevelen, D. Arn

    1971-01-01

    The paper tries to assign to autistic psychopathy a definite place in psychiatric nosology and to delineate sharply the differences between the essential characteristics of it and of early infantile autism. (Author)

  15. Malignant mesothelioma

    PubMed Central

    Ahmed, Ishtiaq; Ahmed Tipu, Salman; Ishtiaq, Sundas

    2013-01-01

    Malignant Mesothelioma (MM) is a rare but rapidly fatal and aggressive tumor of the pleura and peritoneum with limited knowledge of its natural history. The incidence has increased in the past two decades but still it is a rare tumor. Etiology of all forms of mesothelioma is strongly associated with industrial pollutants, of which asbestos is the principal carcinogen. Mesothelioma is an insidious neoplasm arising from mesothelial surfaces i.e., pleura (65%-70%), peritoneum (30%), tunica vaginalis testis, and pericardium (1%-2%). The diagnosis of peritoneal and Pleural mesothelioma is often delayed, due to a long latent period between onset and symptoms and the common and nonspecific clinical presentation. The definite diagnosis can only be established by diagnostic laparoscopy or open surgery along with biopsy to obtain histological examination and immunocytochemical analysis. Different treatment options are available but Surgery can achieve a complete or incomplete resection and Radical resection is the preferred treatment. Chemotherapy has an important role in palliative treatment. Photodynamic therapy is also an option under trial. Patients who successfully underwent surgical resection had a considerably longer median survival as well as a significantly higher 5-year survival. Source of Data/Study Selection: The data were collected from case reports, cross-sectional studies, Open-label studies and phase –II trials between 1973-2012. Data Extraction: Web sites and other online resources of American college of surgeons, Medline, NCBI and Medscape resource centers were used to extract data. Conclusion: Malignant Mesothelioma (MM) is a rare but rapidly fatal and aggressive tumor with limited knowledge of its natural history. The diagnosis of peritoneal and Pleural mesothelioma is often delayed, so level of index of suspicion must be kept high. PMID:24550969

  16. Infantile haemangioma: a complicated disease.

    PubMed

    Qiu, Mingke; Qi, Xianqin; Dai, Yuxin; Wang, Shuqing; Quan, Zhiwei; Liu, Yingbin; Ou, Jingmin

    2015-06-01

    Infantile haemangiomas (IH) are common benign vascular tumors of childhood. They are characterised by rapid growth during the first year of life and slow regression that is usually completed by 7-10 years of age. The underlying mechanism of action of IH is aberrant angiogenesis and vasculogenesis, and involves the mammalian target of rapamycin pathway and vascular endothelial growth factor pathway. IH become a challenge if they are part of a syndrome, are located in certain areas of the body, or if complications develop. The beta-adrenergic receptor blocker propranolol is a promising new candidate for first-line systemic therapy. This review focuses on the clinical characteristics, pathogenesis and management of IH.

  17. Infantile hemangiomas, complications and treatments.

    PubMed

    Cheng, Carol Erin; Friedlander, Sheila Fallon

    2016-03-01

    Infantile hemangiomas (IHs) are the most common vascular tumors of infancy. While the majority regress without the need for intervention, approximately 10%, often site dependent, can cause serious complications and require treatment. IH complications can be categorized as life threatening, obstructive, ulcerative or disfiguring. Life threatening complications include airway and hepatic IHs. Functional complications obstructing vital structures or impairing function include periocular, nasal, labial, parotid, auricular, and breast IHs. Local complications arise from ulceration or those in cosmetically sensitive areas. Therapeutic options for complicated IHs include pharmacologic (topical or systemic), surgical, or laser interventions. Topical agents are best employed for small, superficial, and localized IHs; while systemic therapy is reserved for larger IHs and those with more aggressive growth characteristics with propranolol as first-line therapy. PMID:27607318

  18. [Malignant hyperthermia].

    PubMed

    Metterlein, T; Schuster, F; Graf, B M; Anetseder, M

    2014-12-01

    Malignant hyperthermia (MH) is a rare hereditary, mostly subclinical myopathy. Trigger substances, such as volatile anesthetic agents and the depolarizing muscle relaxant succinylcholine can induce a potentially fatal metabolic increase in predisposed patients caused by a dysregulation of the myoplasmic calcium (Ca) concentration. Mutations in the dihydropyridine ryanodine receptor complex in combination with the trigger substances are responsible for an uncontrolled release of Ca from the sarcoplasmic reticulum. This leads to activation of the contractile apparatus and a massive increase in cellular energy production. Exhaustion of the cellular energy reserves ultimately results in local muscle cell destruction and subsequent cardiovascular failure. The clinical picture of MH episodes is very variable. Early symptoms are hypoxia, hypercapnia and cardiac arrhythmia whereas the body temperature rise, after which MH is named, often occurs later. Decisive for the course of MH episodes is a timely targeted therapy. Following introduction of the hydantoin derivative dantrolene, the previously high mortality of fulminant MH episodes could be reduced to well under 10 %. An MH predisposition can be detected using the invasive in vitro contracture test (IVCT) or mutation analysis. Few elaborate diagnostic procedures are in the developmental stage. PMID:25384957

  19. Desmoplastic infantile and non-infantile ganglioglioma. Review of the literature.

    PubMed

    Gelabert-Gonzalez, Miguel; Serramito-García, Ramón; Arcos-Algaba, Andrea

    2010-04-01

    Desmoplastic gangliogliomas (DIG) are rare primary neoplasms that comprise 0.5-1.0% of all intracranial tumors. Clinically, there are two forms of DIG, the infantile and the non-infantile. These tumors invariably arise in the supratentorial region and commonly involve more than one lobe, preferentially the temporal and frontal. On neuroimaging are seen as large hypodense cystic masses with a solid isodense or slightly hyperdense superficial portion. The histologic diagnosis is characterized by the presence of three different cell lines: astrocytic, neuronal, and primitive neuroectodermal marker sites, which were demonstrable. The treatment of choice is radical surgical excision, and if this is done, achieved complete healing of the patient does not require additional treatment. A literature review of DIG was compiled through Medline/Ovid using the keywords "desmoplastic infantile ganglioglioma", "desmoplastic non-infantile ganglioglioma" covering the years 1984-2009. We present a review of a total of 113 cases of infantile (94) and non-infantile gangliogliomas (19) published to date, examining the clinical, radiologic, surgical, and pathological aspects, as well as the outcome. Desmoplastic gangliogliomas represent a rare tumor group with two well-defined age groups, the children and non-children. Desmoplastic infantile gangliogliomas are the most common and occur in children below 5 years of age, and the large majority of them present within the first year of life. Surgery is the treatment of choice and no complementary treatment is needed in cases of complete tumor resection. PMID:21246390

  20. Misdiagnosed infantile rhabdomyofibrosarcoma: A case report

    PubMed Central

    Pan, Tao; Chen, Ken; Jiang, Run-Song; Zhao, Zheng-Yan

    2016-01-01

    Infantile rhabdomyofibrosarcoma is a rare form of soft-tissue tumor often associated with difficulties in diagnosis. The disease is positioned intermediately between rhabdomyosarcoma and infantile fibrosarcoma in terms of clinical presentation, immunohistochemistry, behavior, morphology and ultrastructural features. Reports of rhabdomyofibrosarcoma cases are limited in the literature. The present case describes a 26-month-old female who presented with a slowly progressive, soft-tissue mass in the right chest wall. The mass was successfully treated with surgery. Using histopathology, the tumor was diagnosed and classified as infantile rhabdomyofibrosarcoma. The patient has been followed-up for 2 years and is currently in good condition. The present case demonstrates that early, radical, local surgery and multidisciplinary cooperation were successful for the treatment of rhabdomyofibrosarcoma, and close follow-up highly recommended.

  1. A comparison of osteoclast-rich and osteoclast-poor osteopetrosis in adult mice sheds light on the role of the osteoclast in coupling bone resorption and bone formation.

    PubMed

    Thudium, Christian S; Moscatelli, Ilana; Flores, Carmen; Thomsen, Jesper S; Brüel, Annemarie; Gudmann, Natasja Stæhr; Hauge, Ellen-Margrethe; Karsdal, Morten A; Richter, Johan; Henriksen, Kim

    2014-07-01

    Osteopetrosis due to lack of acid secretion by osteoclasts is characterized by abolished bone resorption, increased osteoclast numbers, but normal or even increased bone formation. In contrast, osteoclast-poor osteopetrosis appears to have less osteoblasts and reduced bone formation, indicating that osteoclasts are important for regulating osteoblast activity. To illuminate the role of the osteoclast in controlling bone remodeling, we transplanted irradiated skeletally mature 3-month old wild-type mice with hematopoietic stem cells (HSCs) to generate either an osteoclast-rich or osteoclast-poor adult osteopetrosis model. We used fetal liver HSCs from (1) oc/oc mice, (2) RANK KO mice, and (3) compared these to wt control cells. TRAP5b activity, a marker of osteoclast number and size, was increased in the oc/oc recipients, while a significant reduction was seen in the RANK KO recipients. In contrast, the bone resorption marker CTX-I was similarly decreased in both groups. Both oc/oc and Rank KO recipients developed a mild osteopetrotic phenotype. However, the osteoclast-rich oc/oc recipients showed higher trabecular bone volume (40 %), increased bone strength (66 %), and increased bone formation rate (54 %) in trabecular bone, while RANK KO recipients showed only minor trends compared to control recipients. We here show that maintaining non-resorbing osteoclasts, as opposed to reducing the osteoclasts, leads to increased bone formation, bone volume, and ultimately higher bone strength in vivo, which indicates that osteoclasts are sources of anabolic molecules for the osteoblasts.

  2. Helicobacter pylori and Egyptian infantile colic.

    PubMed

    Ali, Adel S A; Borei, Maher B M

    2013-08-01

    Excessive infant crying is a common and often stress-inducing condition for parents that can ultimately result in infant abuse. Although the infantile colic is reported commonly and causes appreciable distress for both parents and pediatricians, its pathogenesis remains unclear, despite 40 years of research. This work studied the role of H. pylori in infantile colic. This study was conducted in a primary health care office in Sharkia Governorate. The study included 50 infants with infantile colic according to Wessel's criteria, along with age and sex matched 50 healthy controls. All-infants without apparent cause for their colic underwent full history taking, clinical examination and H. pylori antigen in their stools. This study supports the new evidence for the role of H. pylori in the pathogenesis of infantile colic. H. pylori stool antigen was present in 31 (62%) of cases in contrast to 10 (20%) of controls (P<0.0001). Normal vaginal delivery, male, vomiting and breast feeding may be risk factors for H. pylori infection in this age period.

  3. Infantile Amnesia: Forgotten but Not Gone

    ERIC Educational Resources Information Center

    Li, Stella; Callaghan, Bridget L.; Richardson, Rick

    2014-01-01

    Unlike adult memories that can be remembered for many years, memories that are formed early in life are more fragile and susceptible to being forgotten (a phenomenon known as "infantile" or "childhood" amnesia). Nonetheless, decades of research in both humans and nonhuman animals demonstrate the importance of early life…

  4. [Morbus Albers Schonberg osteopetrosis].

    PubMed

    Saracević, Ediba; Hasanbegović, Edo

    2005-01-01

    The patient presented has bone disease, so called "mramor disease". The disease is characterized by insuffiticnty of ostcoclasts which results n persisting of primary spongiosis without normal eroding and bone rebuilding. The discase is diagnosed by X rays where the bone density is increased. The medular space is completly closed by dense bone knitting which, with soft cortical space, seems like bone in bone. This is autosomal recessive disease with serious clinical picture in infants. PMID:15875483

  5. Pediatric Salivary Gland Malignancies.

    PubMed

    Ord, Robert A; Carlson, Eric R

    2016-02-01

    Pediatric malignant salivary gland tumors are extremely rare. The percentage of malignant tumors is higher than that seen in adults, although the outcomes in terms of survival are better in pediatric patients. The mainstay of treatment is surgical excision with negative margins. This article reviews current concepts in demographics, etiology, management, and outcomes of malignant salivary tumors in children.

  6. Association between infantile spasms and nonaccidental head injury.

    PubMed

    Birca, Ala; D'Anjou, Guy; Carmant, Lionel

    2014-05-01

    Infantile spasms constitute a severe epileptic encephalopathy of infancy with poor long-term developmental outcome. Many diverse etiologies have been associated with infantile spasms, but the pathophysiological process is still not fully understood. We describe 2 cases of previously healthy 1- and 3-month-old infants who suffered a nonaccidental head injury with extensive cerebral lesions. Both presented with acute focal seizures rapidly controlled with phenobarbital. Nevertheless, they developed infantile spasms after a latency period of 3-4 months. Spasms were rapidly controlled with vigabatrin. Both children manifested with developmental delay, either exacerbated (case 1) or elicited (case 2) by infantile spasms. Our report highlights nonaccidental head injury as a risk factor for developing infantile spasms following a seizure-free latency period. A better understanding of the pathophysiology linking accidental brain trauma with infantile spasms could lead to more effective neuroprotective strategies. In the meantime, increased awareness and follow-up are warranted. PMID:23580697

  7. Low-dose propranolol for infantile haemangioma.

    PubMed

    Tan, Swee T; Itinteang, Tinte; Leadbitter, Philip

    2011-03-01

    In 2008, propranolol was serendipitously observed to cause accelerated involution of infantile haemangioma. However, the mechanism by which it causes this dramatic effect is unknown, the dosage empirical and the optimal duration of treatment unexplored. This study determines the minimal dosage and duration of propranolol treatment to achieve accelerated involution of problematic infantile haemangioma. Consecutive patients with problematic proliferating infantile haemangioma treated with propranolol were culled from our prospective vascular anomalies database. The patients were initially managed as inpatients and commenced on propranolol at 0.25 mg kg(-1) twice daily, and closely monitored. The dosage was increased to 0.5 mg kg(-1) twice daily after 24 h, if there was no cardiovascular or metabolic side effect. The dosage was increased further by 0.5 mg kg(-1) day(-1) until a visible effect was noticed or up to a maximum of 2 mg kg(-1) day(-1), and was maintained until the lesion had fully involuted or the child was 12-months old. A total of 15 patients aged 3 weeks to 8.5 months (mean, 11 weeks) underwent propranolol treatment for problematic proliferating infantile haemangioma, which threatened life (n=1) or vision (n=2) or nasal obstruction (n=3) and/or caused ulceration (n=6) and/or bleeding (n=2) and/or significant tissue distortion (n=12). The minimal dosage required to achieve accelerated involution was 1.5-2.0 mg kg(-1) day(-1). Rebound growth occurred in the first patient when the dose was withdrawn at 7.5 months of age requiring reinstitution of treatment. No rebound growth was observed in the remaining patients. No other complications were observed. Propranolol at 1.5-2.0 mg kg(-1) day(-1), administered in divided doses with gradual increase in the dose, is effective and safe for treating problematic proliferating infantile haemangioma in our cohort of patients. Treatment should be maintained until the lesion is completely involuted or the child is 12

  8. Unusual presentation of GLUT-1 positive infantile haemangioma.

    PubMed

    Koh, Clare; Sugo, Ella; Wargon, Orli

    2009-05-01

    Infantile haemangiomas are usually not present at birth. This is a case of a female infant with an atypical congenital vascular tumour present at birth which ulcerated in the first few days of life, involuted over several months and showed histopathological features in keeping with either an involuting GLUT-1 positive infantile haemangioma or a reticular haemangioma of infancy. The initial clinical presentation was atypical for an infantile haemangiomas and for a congenital haemangioma, however the histopathology and immunohistochemistry assisted with confirmation of the diagnosis. Vacuum-assisted closure (VAC) therapy aided in the complete healing of the ulcerated infantile haemangioma which was not achievable with conventional dressings.

  9. Infantile systemic hyalinosis in identical twins.

    PubMed

    Koonuru, Mahesh Kumar; Venugopal, Satya Prasad

    2015-11-01

    Infantile systemic hyalinosis (ISH) is a rare disorder belonging to the heterogeneous group of genetic fibromatoses. It is a rare, progressive, fatal autosomal recessive condition characterized by widespread deposition of hyaline material in many tissues caused by mutations in the anthrax toxin receptor 2 gene - ANTXR2. It presents hyperpigmented skin over bony prominences. Characteristic purplish patches develop over the medial and lateral malleoli of the ankles, the metacarpophalangeal joints, spine and elbows, with progressive joint contractures, osteopenia, skin abnormalities and chronic severe pain. The present case reports the occurrence of infantile systemic hyalinosis in twin brothers five months of age who had come for early intervention for joint contractures representing characteristic brownish patches over bony prominences. ISH cases reported until this date have been less than 20 and the present case is unique in nature since this is the first time ISH is reported in twins globally and the symptoms have been identified at an early age. PMID:26668783

  10. [Giant infantile hepatic hemangioma: which therapeutic options?].

    PubMed

    Gonçalves, Cristina; Lobo, Luisa; Anjos, Rui; Salgueiro, Carlos; Lopes, Ana Isabel

    2013-01-01

    Infantile hepatic hemangioma is the third most frequent liver tumor in children and the most common below 6 months of age. Therapeutic options depend on clinical manifestations and should be tailored on an individual patient basis. We present the case of a 4 year old boy with neonatal diagnosis of large vascularized liver tumor with imagiological criteria of infantile hepatic hemangioma. We highlight the occurrence of heart failure and Kasabach-Merrit syndrome (thrombocytopenia, anemia) that have spontaneously regressed. During follow up, sequential imaging (ultrasound with Doppler, magnetic resonance imaging, dynamic contrast enhancement computed tomography) confirmed the hypothesis of IHH, allowing vascular mapping of the lesion. From the first year on, we observed a favorable course with progressive tumor regression. In the present case, a conservative approach has been maintained, but the best therapeutic option remains unclear. We highlight the specific features of this case, discussing the most cost-effective approach.

  11. [Early infantile autism and its biochemistry].

    PubMed

    Ferrari, P; Bursztejn, C

    1983-09-22

    In the first part of this paper the different orientations of biochemical research in early infantile autism are recalled. The most significant results of these studies concerning the dopaminergic, noradrenergic and indolaminergic (serotonin, efflux, uptake) systems as well as the various enzymatic complexes are also reviewed. In the second part, the methodologic problems which arise in biochemical research in the field of autism are addressed.

  12. Infantile refsum disease in four Amish sibs.

    PubMed

    Bader, P I; Dougherty, S; Cangany, N; Raymond, G; Jackson, C E

    2000-01-17

    Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this sibship are characteristic poorly formed yellow-orange teeth in at least three of the four affected sibs and behavior problems in the affected females. PMID:10607947

  13. Infantile refsum disease in four Amish sibs.

    PubMed

    Bader, P I; Dougherty, S; Cangany, N; Raymond, G; Jackson, C E

    2000-01-17

    Infantile Refsum disease (IRD) appears with varying degrees of impaired vision, hearing loss, developmental delays, and neuromotor deficiencies. We report on four Amish sibs with IRD from a consanguineous marriage; biochemical testing supported the diagnosis of IRD. Of particular interest in this sibship are characteristic poorly formed yellow-orange teeth in at least three of the four affected sibs and behavior problems in the affected females.

  14. Infantile Refsum disease: serial evaluation with MRI.

    PubMed

    Cakirer, Sinan; Savas, Mahmut R

    2005-02-01

    Refsum disease is a rare metabolic disorder, which is characterized by the accumulation of phytanic acid in the blood and tissues, including the brain. A variant of this condition that occurs in young children is called infantile Refsum disease. The MRI findings of symmetrical signal change involving the corticospinal tracts, cerebellar dentate nuclei, and corpus callosum are characteristic. We report the serial MRI findings of a child with this rare metabolic disorder.

  15. Infantile tremor syndrome -- down but not out.

    PubMed

    Goraya, Jatinder S; Kaur, Sukhjot

    2015-03-01

    Retrospective chart review of 21 infants with infantile tremor syndrome for vitamin B12 deficiency showed low serum vitamin B12 levels in 8/16 (50%). Of the eight infants with normal levels, six had received vitamin B12 before referral. Macrocytosis and low maternal serum B12 was found in 12 and seven cases each. Treatment with vitamin B12 alone produced rapid recovery.

  16. Infantile and acquired nystagmus in childhood.

    PubMed

    Ehrt, Oliver

    2012-11-01

    Nystagmus is an involuntary, periodic eye movement caused by a slow drift of fixation which is followed by a fast refixation saccade (jerk nystagmus) or a slow movement back to fixation (pendular nystagmus). In childhood most cases are benign forms of nystagmus: idiopathic infantile, ocular or latent nystagmus. They arise at the age of 3 months, without oscillopsia and show the absence of the physiologic opto-kinetic nystagmus. A full ophthalmologic evaluation is all that is needed in most cases: albinism, macular or optic nerve hypoplasia and congenital retinal dystrophies are the most common forms of ocular nystagmus. Idiopathic infantile nystagmus can be hereditary, the most common and best analyzed form being a mutation of the FRMD7 gene on chromosome Xq26.2. The mutation shows a mild genotype-phenotype correlation. In all female carriers the opto-kinetic nystagmus is absent and half had mild nystagmus. Latent nystagmus is part of the infantile esotropia syndrome and shows the unique feature of change of direction when the fixing eye changes: it is always beating to the side of the fixing eye. There is no cure for infantile nystagmus but therapeutic options include magnifying visual aids or eye muscle surgery at the age of 6-8 y in patients with head turn. Less than 20% of childhood nystagmus are acquired and need further neurological and imaging work-up. Alarming signs and symptoms are: onset after the age of 4 months, oscillopsia, dissociated (asymmetric) nystagmus, preserved opto-kinetic nystagmus, afferent pupillary defect, papilloedema and neurological symptoms like vertigo and nausea. The most common cause is due to pathology of the anterior optic pathway (e.g. optic nerve gliomas). It shows the same clinical feature of dissociated nystagmus as spasmus nutans but has a higher frequency as in INO. Other forms of acquired nystagmus are due to brainstem, cerebellar or metabolic diseases. PMID:22459007

  17. Infantile torticollis: a review of 624 cases.

    PubMed

    Cheng, J C; Au, A W

    1994-01-01

    We reviewed 624 cases of infantile torticollis in one centre over a period of 7 years. The incidence of torticollis was found to be 1.3% in Chinese children. Boy-to-girl ratio was 3:2. Obstetric histories of the mothers showed a total of 62.2% with difficult labour, breech deliveries, or caesarean section, and 6.04% had associated congenital anomalies. Of all the cases, 27.88% were found to be postural, 35.4% had torticollis that presented with sternomastoid tumor, and 36.7% presented with muscular torticollis alone. When limitation of neck range was considered, 36.7% had a passive rotation deficit > 15 degrees. In patients presenting in the early stages, 97% of all infantile torticollis cases resolved with conservative treatment, active stimulation, and a passive stretching program. For those responding to treatment, the mean treatment period was < 6 months for varying degrees of neck rotational deficit. Patients with cord-like muscular torticollis and a rotational > 30 degrees were more likely to need surgery. Presence of sternomastoid tumor alone was not found to increase the likelihood of surgery. Musculoskeletal sequelae after torticollis had resolved included intermittent head tilt and persistence of mild craniofacial asymmetry. We recommend continuous follow-up in cases of infantile torticollis, particularly in patients with progression of sternomastoid tumor to muscular torticollis.

  18. Cytoplasmic expression of Wilms tumor transcription factor-1 (WT1): a useful immunomarker for young-type fibromatoses and infantile fibrosarcoma.

    PubMed

    Magro, Gaetano; Salvatorelli, Lucia; Vecchio, Giada Maria; Musumeci, Giuseppe; Rita, Alaggio; Parenti, Rosalba

    2014-09-01

    There is increasing evidence that Wilms' tumor transcription factor-1 (WT1) is expressed in the cytoplasm of neoplastic cells from different benign and malignant tumors. Only a few studies on WT1 cytoplasmic immunolocalization are available in pediatric tumors. The aim of the present study was to investigate immunohistochemically the expression and distribution of WT1 in a large series of soft tissue fibroblastic/myofibroblastic lesions occurring in children and adolescents. Notably WT1 was not expressed in nodular fasciitis and desmoid-type (adult) fibromatosis, while it stained diffusely and strongly in several infantile-type fibromatoses, such as fibrous hamartoma of infancy, myofibroma/myofibromatosis, and lipofibromatosis. Interestingly, WT1 cytoplasmic expression was also found in all cases (10/10) of infantile fibrosarcomas examined. The present study shows that a diffuse WT1 cytoplasmic expression is of complementary diagnostic value to conventional myofibroblastic markers (α-smooth muscle actin; desmin) in confirming diagnosis of young-type fibromatoses or infantile fibrosarcoma and in ruling out both desmoid-type fibromatoses and nodular fasciitis. WT1 cytoplasmic expression in infantile fibrosarcoma is a novel finding which could be exploitable as an immunomarker for this tumor. Although highly sensitive, WT1 cytoplasmic immunostaining is not specific for infantile fibrosarcoma, and thus it should be evaluated in the context of a wide immunohistochemical panel when pathologists are dealing with spindle cell lesions of soft tissues in children and adolescents. Accordingly we recommend that a correct diagnosis of fibroblastic/myofibroblastic soft tissue lesion in pediatric patients is usually achieved on the basis of a careful correlation of morphological and immunohistochemical findings in the appropriate clinical context. The different cellular localization of WT1, namely nuclear, cytoplasmic or nucleo-cytoplasmic, in different benign and malignant

  19. Rheumatic Diseases and Malignancies

    PubMed Central

    BOJINCA, Violeta; JANTA, Iustina

    2012-01-01

    ABSTRACT There are many studies which demonstrate a higher risk for malignancy in patients with rheumatic diseases. There have been a number of possible explanations for the differences in the risk of certain malignancies in patients with rheumatic disease, compared with general population, but a clear mechanism is difficult to identify. Rheumatoid syndromes may be associated with malignancy as paraneoplastic conditions, which can antedate the neoplasm diagnosis. On the other hand, autoimmune rheumatic diseases have a higher risk of malignancy by themselves or because of the immunosuppressant treatments. PMID:23482881

  20. [Infantile hemangiomas: the revolution of beta-blockers].

    PubMed

    Leaute-Labreze, Christine

    2014-12-01

    Infantile hemangioma is the consequence of both postnatal vasculogenesis and angiogenesis. Hypoxia appears to play an important role as a contributory factor. Infantile hemangiomas have variable clinical features: superficial, deep or mixed. They can be localized or segmental involving a large skin area. Localized infantile hemangiomas are usually benign, unless they are located near a noble structure (airway orbit...), while segmental infantile hemangioma may be associated with complex underlying birth defects (PHACES and SACRAL syndromes). Clinical follow-up of infants with infantile hemangioma must be particularly careful in the first weeks of life since 80% of all infantile hemangiomas have reached their final size at age 5 months. A majority of infantile hemangiomas are mild and do not required any treatment. Main indications for treatment are: vital risk (heart failure, respiratory distress), functional risk (amblyopia, swallowing disorders...), painful ulceration and disfigurement (face involvement of nose, lips...). Propranolol, has been quickly adopted as the first line medical treatment for complicated infantile hemangioma; and it is the only treatment to have a marketing authorization in this indication. It is recommended to begin the treatment as early as possible before three months of age to minimize the risk of complications and sequelae.

  1. Physiological Regulation and Infantile Anorexia: A Pilot Study

    ERIC Educational Resources Information Center

    Chatoor, Irene; Ganiban, Jody; Surles, Jaclyn; Doussard-Roosevelt, Jane

    2004-01-01

    Objective: To examine whether infantile anorexia is associated with physiological dysregulation. Method: This study included eight toddlers with infantile anorexia and eight healthy eaters matched for age, race, socioeconomic status, and gender. Physiological measures of heart period and respiratory sinus arrhythmia were assessed across three…

  2. [Infantile hemangiomas: the revolution of beta-blockers].

    PubMed

    Leaute-Labreze, Christine

    2014-12-01

    Infantile hemangioma is the consequence of both postnatal vasculogenesis and angiogenesis. Hypoxia appears to play an important role as a contributory factor. Infantile hemangiomas have variable clinical features: superficial, deep or mixed. They can be localized or segmental involving a large skin area. Localized infantile hemangiomas are usually benign, unless they are located near a noble structure (airway orbit...), while segmental infantile hemangioma may be associated with complex underlying birth defects (PHACES and SACRAL syndromes). Clinical follow-up of infants with infantile hemangioma must be particularly careful in the first weeks of life since 80% of all infantile hemangiomas have reached their final size at age 5 months. A majority of infantile hemangiomas are mild and do not required any treatment. Main indications for treatment are: vital risk (heart failure, respiratory distress), functional risk (amblyopia, swallowing disorders...), painful ulceration and disfigurement (face involvement of nose, lips...). Propranolol, has been quickly adopted as the first line medical treatment for complicated infantile hemangioma; and it is the only treatment to have a marketing authorization in this indication. It is recommended to begin the treatment as early as possible before three months of age to minimize the risk of complications and sequelae. PMID:25665327

  3. Extending Childhood into the Teen Years: "Infantilization" and Its Consequences

    ERIC Educational Resources Information Center

    Skager, Rodney

    2009-01-01

    Young people sandwiched between childhood and adulthood often rebel when adults treat them like children rather than with the respect that acknowledges their intelligence and potential. Research and theory supporting the view of "infantilizing" adolescents has proliferated. The extent to which modern cultures infantilize youth is evident in…

  4. CSF B-Endorphin Levels in Patients with Infantile Autism.

    ERIC Educational Resources Information Center

    Nagamitsu, Shinichiro; And Others

    1997-01-01

    A Japanese study measured CSF (cerebrospinal fluid) levels of beta-endorphin in 19 children (ages 4-6) with infantile autism and in 3 children (ages 10-14) with Rett syndrome. In infantile autism, levels did not differ significantly from control participants (n=23). However, levels were significantly higher in those with Rett syndrome. (Author/CR)

  5. History of the infantile hepatic hemangioma: From imaging to generating a differential diagnosis

    PubMed Central

    Gnarra, Maria; Behr, Gerald; Kitajewski, Alison; Wu, June K; Anupindi, Sudha A; Shawber, Carrie J; Zavras, Nick; Schizas, Dimitrios; Salakos, Chris; Economopoulos, Konstantinos P

    2016-01-01

    We aim to provide an up-to-date summary of infantile hepatic hemangioma (IHH) and its misnomers and to dialectically present the differential diagnosis of these rare entities of the liver. Eligible peer-reviewed articles on hepatic infantile hemangiomas, published between 2000 and 2015, were reviewed for this study. IHH is the most common hepatic vascular tumor in children. Once a liver mass is identified in an infant, the differential diagnosis ranges from vascular malformations to benign and malignant tumors including mesenchymal hamartoma, hepatoblastoma, metastatic neuroblastoma, so careful physical examination, imaging studies, and, if indicated, tumor markers and biopsy, are of pivotal importance to ascertain the correct diagnosis. Despite the benign nature of IHHs, some of these lesions may demand medical and/or surgical intervention, especially for multiple and diffuse IHH. Complications can include hepatomegaly, hypothyroidism and cardiac failure. Therefore, a close follow-up is required until complete involution of the lesions. We propose an algorithm to guide the physicians towards the proper management of hepatic lesions. PMID:27610342

  6. History of the infantile hepatic hemangioma: From imaging to generating a differential diagnosis

    PubMed Central

    Gnarra, Maria; Behr, Gerald; Kitajewski, Alison; Wu, June K; Anupindi, Sudha A; Shawber, Carrie J; Zavras, Nick; Schizas, Dimitrios; Salakos, Chris; Economopoulos, Konstantinos P

    2016-01-01

    We aim to provide an up-to-date summary of infantile hepatic hemangioma (IHH) and its misnomers and to dialectically present the differential diagnosis of these rare entities of the liver. Eligible peer-reviewed articles on hepatic infantile hemangiomas, published between 2000 and 2015, were reviewed for this study. IHH is the most common hepatic vascular tumor in children. Once a liver mass is identified in an infant, the differential diagnosis ranges from vascular malformations to benign and malignant tumors including mesenchymal hamartoma, hepatoblastoma, metastatic neuroblastoma, so careful physical examination, imaging studies, and, if indicated, tumor markers and biopsy, are of pivotal importance to ascertain the correct diagnosis. Despite the benign nature of IHHs, some of these lesions may demand medical and/or surgical intervention, especially for multiple and diffuse IHH. Complications can include hepatomegaly, hypothyroidism and cardiac failure. Therefore, a close follow-up is required until complete involution of the lesions. We propose an algorithm to guide the physicians towards the proper management of hepatic lesions.

  7. History of the infantile hepatic hemangioma: From imaging to generating a differential diagnosis.

    PubMed

    Gnarra, Maria; Behr, Gerald; Kitajewski, Alison; Wu, June K; Anupindi, Sudha A; Shawber, Carrie J; Zavras, Nick; Schizas, Dimitrios; Salakos, Chris; Economopoulos, Konstantinos P

    2016-08-01

    We aim to provide an up-to-date summary of infantile hepatic hemangioma (IHH) and its misnomers and to dialectically present the differential diagnosis of these rare entities of the liver. Eligible peer-reviewed articles on hepatic infantile hemangiomas, published between 2000 and 2015, were reviewed for this study. IHH is the most common hepatic vascular tumor in children. Once a liver mass is identified in an infant, the differential diagnosis ranges from vascular malformations to benign and malignant tumors including mesenchymal hamartoma, hepatoblastoma, metastatic neuroblastoma, so careful physical examination, imaging studies, and, if indicated, tumor markers and biopsy, are of pivotal importance to ascertain the correct diagnosis. Despite the benign nature of IHHs, some of these lesions may demand medical and/or surgical intervention, especially for multiple and diffuse IHH. Complications can include hepatomegaly, hypothyroidism and cardiac failure. Therefore, a close follow-up is required until complete involution of the lesions. We propose an algorithm to guide the physicians towards the proper management of hepatic lesions. PMID:27610342

  8. Primary malignant melanoma

    PubMed Central

    Mısır, A. Ferhat; Durmuşlar, Mustafa C.; Zerener, Tamer; Gün, Banu D.

    2016-01-01

    Malignant melanomas (MM) of the oral cavity are extremely rare, accounting for 0.2% to 8.0% of all malignant melanomas. Malignant melanomas is more frequently seen at the level of the hard palate and gingiva. Early diagnosis and treatment are important for reducing morbidity. Malignant melanoma cells stain positively with antibodies to human melanoma black 45, S-100 protein, and vimentin; therefore, immunohistochemistry can play an important role in evaluating the depth of invasion and the location of metastases. A 76-year-old man developed an oral malignant melanoma, which was originally diagnosed as a bluish reactive denture hyperplasia caused by an ill-fitting lower denture. The tumor was removed surgically, and histopathological examination revealed a nodular-type MM. There was no evidence of recurrence over a 4-year follow-up period. PMID:27052289

  9. Propranolol treatment of infantile hemangioma endothelial cells: A molecular analysis.

    PubMed

    Stiles, Jessica; Amaya, Clarissa; Pham, Robert; Rowntree, Rebecca K; Lacaze, Mary; Mulne, Arlynn; Bischoff, Joyce; Kokta, Victor; Boucheron, Laura E; Mitchell, Dianne C; Bryan, Brad A

    2012-10-01

    Infantile hemangiomas (IHs) are non-malignant, largely cutaneous vascular tumors affecting approximately 5-10% of children to varying degrees. During the first year of life, these tumors are strongly proliferative, reaching an average size ranging from 2 to 20 cm. These lesions subsequently stabilize, undergo a spontaneous slow involution and are fully regressed by 5 to 10 years of age. Systemic treatment of infants with the non-selective β-adrenergic receptor blocker, propranolol, has demonstrated remarkable efficacy in reducing the size and appearance of IHs. However, the mechanism by which this occurs is largely unknown. In this study, we sought to understand the molecular mechanisms underlying the effectiveness of β blocker treatment in IHs. Our data reveal that propranolol treatment of IH endothelial cells, as well as a panel of normal primary endothelial cells, blocks endothelial cell proliferation, migration, and formation of the actin cytoskeleton coincident with alterations in vascular endothelial growth factor receptor-2 (VEGFR-2), p38 and cofilin signaling. Moreover, propranolol induces major alterations in the protein levels of key cyclins and cyclin-dependent kinase inhibitors, and modulates global gene expression patterns with a particular affect on genes involved in lipid/sterol metabolism, cell cycle regulation, angiogenesis and ubiquitination. Interestingly, the effects of propranolol were endothelial cell-type independent, affecting the properties of IH endothelial cells at similar levels to that observed in neonatal dermal microvascular and coronary artery endothelial cells. This data suggests that while propranolol markedly inhibits hemangioma and normal endothelial cell function, its lack of endothelial cell specificity hints that the efficacy of this drug in the treatment of IHs may be more complex than simply blockage of endothelial function as previously believed.

  10. Probiotics for infantile colic: a systematic review

    PubMed Central

    2013-01-01

    Background Infantile colic is a common paediatric condition which causes significant parental distress. Increased intestinal coliform colonization in addition to alteration in Lactobacillus abundance and distribution may play an important role in its pathogenesis. The objectives of this systematic review are to evaluate the efficacy of probiotic supplementation in the reduction of crying time and successful treatment of infantile colic. Methods Literature searches were conducted of MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials. Only randomized controlled trials enrolling term, healthy infants with colic were included. A meta-analysis of included trials was performed utilizing the Cochrane Collaboration methodology. Results Three trials that enrolled 220 breastfed infants met inclusion criteria, of which 209 infants were available for analysis. Two of the studies were assessed as good quality. Lactobacillus reuteri (strains-American Type Culture Collection Strain 55730 and DSM 17 938) was the only species utilized in the therapeutic intervention. Two of the trials were industry funded. Probiotic supplementation compared to simethicone or placebo significantly and progressively shortened crying times to 7 days reaching a plateau at three weeks post initiation of therapy [mean difference −56.03 minutes; 95% CI (−59.92, -52.15)]. Similarly, probiotics compared to placebo significantly increased the treatment success of infantile colic with a relative risk (RR) of 0.06; 95% CI (0.01, 0.25) and a number needed to treat of 2. Conclusions Although L. reuteri may be effective as a treatment strategy for crying in exclusively breastfed infants with colic, the evidence supporting probiotic use for the treatment of infant colic or crying in formula-fed infants remains unresolved. Results from larger rigorously designed studies will help draw more definitive conclusions. PMID:24238101

  11. Looking for new treatments of Infantile Colic

    PubMed Central

    2014-01-01

    Infantile colic is a common disturbance occurring in the first three months of life. It is a benign condition and one of the main causes of pediatric consultation in the early part of life because of its great impact on family life. Some pediatricians are prone to undervalue this issue mainly because of the lack of evidence based medicine guidelines. Up to now, there is no consensus concerning management and treatment. Literature reports growing evidence about the effectiveness of dietary, pharmacological, complementary and behavioral therapies as options for the management of infantile colic. Dietary approach, usually based on the avoidance of cow’s milk proteins in breast-feeding mothers and bottle-fed infants, more recently has seen the rise of new special formulas, such as partially hydrolyzed proteins and low lactose added with prebiotics or probiotics: their efficacy needs to be further documented. Investigated pharmacological agents are Simethicone and Cimetropium Bromide: the first is able to reduce bloating while the second could reduce fussing crying, but it has been tested only for severe infantile colic. No other pain relieving agents have been proposed until now, but some clinical trials are ongoing for new drugs. There is limited evidence supporting the use of complementary and alternative treatments (herbal supplements, manipulative approach and acupuncture) or behavioral interventions. Recent studies have focused the role of microbiota in the pathogenesis of this disturb and so new treatments, such as probiotics, have been proposed, but only few strains have been tested. Further investigations are needed in order to provide evidence-based guidelines. PMID:24898541

  12. Audiological findings in Infantile Refsum disease.

    PubMed

    Vandana, V P; Bindu, Parayil Sankaran; Nagappa, Madhu; Sinha, Sanjib; Taly, Arun B

    2015-08-01

    Audiological manifestations in a four-year-old child with Infantile Refsum disease are reported. He was born to non-consanguineous parents and had normal birth history and mildly delayed milestones prior to presentation. Clinical features were characterized by neuroregression, retinitis pigmentosa, hearing loss, peripheral neuropathy and white matter signal changes on magnetic resonance imaging. Biochemical evaluation showed elevated serum levels of long chain fatty acid and phytanic acid confirming the diagnosis. The audiological profile was characterized by absent auditory brainstem responses with robust otocoustic emissions, which indicated auditory neuropathy as the possible cause of hearing loss.

  13. Vascular tumours in infants. Part I: benign vascular tumours other than infantile haemangioma.

    PubMed

    Hoeger, P H; Colmenero, I

    2014-09-01

    Vascular anomalies can be subdivided into vascular tumours and vascular malformations (VMs). While most VMs are present at birth and do not exhibit significant postnatal growth, vascular tumours are characterized by their dynamics of growth and (sometimes) spontaneous regression. This review focuses on benign vascular tumours other than infantile haemangiomas (IHs), namely pyogenic granuloma, eruptive pseudoangiomatosis, glomangioma, rapidly involuting and noninvoluting congenital haemangioma, verrucous haemangioma and spindle cell haemangioma. While some of them bear clinical resemblance to IH, they can be separated by age of appearance, growth characteristics and/or negative staining for glucose transporter 1. Separation of these tumours from IH is necessary because their outcome and therapeutic options are different. Semimalignant and malignant vascular tumours will be addressed in a separate review.

  14. Congenital infantile digital fibromatosis: a case report and review of the literature

    PubMed Central

    Failla, Valérie; Wauters, Odile; Nikkels-Tassoudji, Nazli; Carlier, Alain; André, Josette; Nikkels, Arjen F

    2009-01-01

    Infantile digital fibromatosis (IDF) is a rare benign fibroproliferative tumor of early childhood. IDF preferentially affects the fingers and the toes. Malignant transformation or metastases have never been reported. Surgical treatment has been advocated previously but local recurrences were observed frequently. Recent literature supports clinical surveillance without any medical or surgical intervention as spontaneous regression usually occurs after two to three years. A six-month-old Caucasian girl with IDF on the left fourth digit is presented here. The tumor progressively increased in size after birth. Topical imiquimod cream and diflucortolone valerate cream, both displaying antifibrotic properties, had no effect on tumor growth. Currently the lesion size remains stable without any treatment. Early recognition of IDF is important in order to avoid unnecessary surgical intervention that may prove to be potentially aggravating, unless serious functional or cosmetic concerns intervene. Parents should be reassured concerning the benign nature of IDF and be informed that spontaneous involution of IDF might be expected. PMID:21139926

  15. Congenital infantile digital fibromatosis: a case report and review of the literature.

    PubMed

    Failla, Valérie; Wauters, Odile; Nikkels-Tassoudji, Nazli; Carlier, Alain; André, Josette; Nikkels, Arjen F

    2009-01-01

    Infantile digital fibromatosis (IDF) is a rare benign fibroproliferative tumor of early childhood. IDF preferentially affects the fingers and the toes. Malignant transformation or metastases have never been reported. Surgical treatment has been advocated previously but local recurrences were observed frequently. Recent literature supports clinical surveillance without any medical or surgical intervention as spontaneous regression usually occurs after two to three years. A six-month-old Caucasian girl with IDF on the left fourth digit is presented here. The tumor progressively increased in size after birth. Topical imiquimod cream and diflucortolone valerate cream, both displaying antifibrotic properties, had no effect on tumor growth. Currently the lesion size remains stable without any treatment. Early recognition of IDF is important in order to avoid unnecessary surgical intervention that may prove to be potentially aggravating, unless serious functional or cosmetic concerns intervene. Parents should be reassured concerning the benign nature of IDF and be informed that spontaneous involution of IDF might be expected. PMID:21139926

  16. Drugs Approved for Malignant Mesothelioma

    MedlinePlus

    ... Professionals Questions to Ask about Your Treatment Research Drugs Approved for Malignant Mesothelioma This page lists cancer ... in malignant mesothelioma that are not listed here. Drugs Approved for Malignant Mesothelioma Alimta (Pemetrexed Disodium) Pemetrexed ...

  17. Dysosteosclerosis Presents as an “Osteoclast-Poor” Form of Osteopetrosis: Comprehensive Investigation of a 3-Year-Old Girl and Literature Review

    PubMed Central

    Whyte, Michael P; Wenkert, Deborah; McAlister, William H; Novack, Deborah V; Nenninger, Angie R; Zhang, Xiafang; Huskey, Margaret; Mumm, Steven

    2010-01-01

    Dysosteosclerosis (DSS), an extremely rare dense bone disease, features short stature and fractures and sometimes optic atrophy, cranial nerve palsy, developmental delay, and failure of tooth eruption in infancy or early childhood consistent with osteopetrosis (OPT). Bone histology during childhood shows unresorbed primary spongiosa from deficient osteoclast action. Additionally, there is remarkable progressive flattening of all vertebrae and, by adolescence, paradoxical metaphyseal osteopenia with thin cortical bone. Reports of consanguinity indicate autosomal recessive inheritance, yet more affected males than females suggest X-linked recessive inheritance. We investigated a nonconsanguineous girl with DSS. Osteosclerosis was discovered at age 7 months. Our studies, spanning ages 11 to 44 months, showed weight at approximately 50th percentile, and length diminishing from approximately 30th percentile to –2.3 SD. Head circumference was +4 SD. The patient had frontal bossing, blue sclera, normal teeth, genu valgum, and unremarkable joints. Radiographs showed orbital and facial sclerosis, basilar thickening, bone-in-bone appearance of the pelvis, sclerotic long bone ends, and fractures of ribs and extremities. Progressive metaphyseal widening occurred as vertebrae changed from ovoid to flattened and became beaked anteriorly. A hemogram was normal. Consistent with OPT, serum parathyroid hormone (PTH) concentrations reflected dietary calcium levels. Serum bone alkaline phosphatase, osteocalcin, and TRACP-5b were subnormal. The iliac crest contained excessive primary spongiosa and no osteoclasts. No mutations were identified in the splice sites or exons for the genes encoding chloride channel 7, T-cell immune regulator 1, OPT-associated transmembrane protein 1, and monocyte colony-stimulating factor (M-CSF) and its receptor C-FMS, ANKH, OPG, RANK, and RANKL. Genomic copy-number microarray was unrevealing. Hence, DSS is a distinctive OPT of unknown etiology featuring

  18. Infantile esotropia: risk factors associated with reoperation

    PubMed Central

    Magli, Adriano; Rombetto, Luca; Matarazzo, Francesco; Carelli, Roberta

    2016-01-01

    The aim of this study was to identify clinical and demographic factors associated with misalignment after first surgery performed on children affected by infantile esotropia to evaluate the reoperation rate. A retrospective study was carried out, analyzing data from 525 children who underwent bilateral medial recti recession, bilateral lateral recti resection, and inferior oblique recession and anteroposition by the same surgeon (AM). Postoperative evaluation included assessment of motor alignment at approximately 3 months, 6 months, 1 year, and 5 years. Statistical analysis was performed with a logistical regression model in which the dependent variable was the presence/absence of reoperation. We found that late surgery (after 3 years of age) and a family history of strabismus are associated with a higher risk of reoperation, while some clinical factors, including some classically associated with worst motor outcome as preoperative angle, dissociated vertical deviation, and amblyopia, did not influence the incidence of reoperation in infantile esotropia. Male patients and patients with hyperopia in preoperative examinations have a significantly decreased reoperation rate.

  19. Evidence-Based Medicine in the Treatment of Infantile Hemangiomas.

    PubMed

    Keller, Robert G; Patel, Krishna G

    2015-08-01

    Over the past decade, the treatment of infantile hemangiomas has undergone dramatic breakthroughs. This review critically evaluates the latest literature that supports the myriad treatment options for infantile hemangiomas. It chronicles the fading role of steroid therapy and evolution of propranolol use as the major treatment modality. Although propranolol is helping this disease become more of a medical disease and less of a surgical dilemma, the report also reveals a continued search to find nonsystemic treatment options. In summary, this is an evidence-based medicine review for the treatment of infantile hemangiomas.

  20. Panuveal malignant mesenchymoma.

    PubMed

    Pe'er, J; Neudorfer, M; Ron, N; Anteby, I; Lazar, M; Rosenmann, E

    1995-09-01

    Intraocular malignant mesenchymal tumors are very rare, and only a few case reports of such primary and metastatic tumors have been reported. We report a case of a malignant mesenchymoma involving the entire uveal tract. A 21-year-old woman presented with a tumor on the whole iris of the right eye, which caused intractable glaucoma. Upon enucleation of the eye, a very anaplastic tumor was found to occupy the whole uveal tract; its features were compatible with a tumor of mesenchymal origin, including rhabdomyosarcomatous and liposarcomatous characteristics. Choroidal osteoma was a coincidental finding. The histologic findings of the tumor were of two types of malignant mesenchymal tumors, and therefore the diagnosis of malignant mesenchymoma was made. This is to our knowledge the first tumor of its kind to be reported intraocularly. PMID:7668945

  1. The Malignant Protein Puzzle.

    PubMed

    Walker, Lary C; Jucker, Mathias

    2016-01-01

    When most people hear the words malignant and brain, cancer immediately comes to mind. But our authors argue that proteins can be malignant too, and can spread harmfully through the brain in neurodegenerative diseases that include Alzheimer's, Parkinson's, CTE, and ALS. Studying how proteins such as PrP, amyloid beta, tau, and others aggregate and spread, and kill brain cells, represents a crucial new frontier in neuroscience. PMID:27408676

  2. Genetics Home Reference: X-linked infantile nystagmus

    MedlinePlus

    ... infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary ... the first six months of life. The abnormal eye movements may worsen when an affected person is feeling ...

  3. Alexander disease with mild dorsal brainstem atrophy and infantile spasms.

    PubMed

    Torisu, Hiroyuki; Yoshikawa, Yoko; Yamaguchi-Takada, Yui; Yano, Tamami; Sanefuji, Masafumi; Ishizaki, Yoshito; Sawaishi, Yukio; Hara, Toshiro

    2013-05-01

    We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MRI) findings fulfilled all MRI-based criteria for the diagnosis of Alexander disease and revealed mild atrophy of the dorsal pons and medulla oblongata with abnormal intensities. DNA analysis disclosed a novel heterozygous missense mutation (c.1154 C>T, p.S385F) in the glial fibrillary acidic protein gene. At 8 months of age, tonic spasms occurred, and electroencephalography (EEG) revealed hypsarrhythmia. Lamotrigine effectively controlled the infantile spasms and improved the abnormal EEG findings. Although most patients with infantile Alexander disease have epilepsy, infantile spasms are rare. This comorbid condition may be associated with the distribution of the brain lesions and the age at onset of Alexander disease.

  4. [Propranolol therapy for periocular and orbital infantile haemangiomas].

    PubMed

    Sterker, I; Tegetmeyer, H; Sorge, I; Weißer, M; Böhm, R

    2014-10-01

    In spite of the self-limiting natural course of infantile haemangiomas of the eyelids and orbit, the effects of amblyopia, compression of the optic nerve, and impairment of the aesthetic appearance may develop. Since the serendipitous discovery of the effects of propranolol, a non-selective beta-blocker, on infantile haemangioma in 2008, it has largely replaced the former standard treatments with corticosteroids, laser or surgical procedures. This review discusses the pathogenesis, classification, indication for treatment, and treatment options for infantile haemangiomas. In addition, the results of patients with infantile haemangiomas of the eyelids and orbit treated with systemic propranolol are shown. With additional confirmation of data, including a positive effect-risk-analysis, propranolol will potentially replace high-dose corticosteroids and surgery in the treatment of infantile haemangiomas in the eyelids and orbit. Further clinical studies are necessary to optimise the dosage, treatment period, and application modalities (oral or topical). In the future, propranolol accompanied with paediatric-cardiological monitoring should emerge as the first-line therapy for problematic infantile haemangiomas.

  5. Infantile colic: is a pain syndrome.

    PubMed

    Gudmundsson, Gardar

    2010-12-01

    The hypothesis states that infantile colic is a pain syndrome and the excessive crying leads to aerophagia and abdominal discomfort. The pain comes from sucking the bottle or the nipple. Feeding for the infant is a heavy workload for the masticatory muscles. The tiny digastricus muscle moves the hyoid bone, takes part in opening the mouth and retrusion of the mandible and assists in mowing the tongue upward, forward and backwards. In the adult population pain from this muscle is well documented. The hypothesis explains the crying as being due to muscular pain at first, later on pain from the origins and insertions of the muscle. Then with increased muscular strength and development the pain fades away. PMID:20729004

  6. Infantile Periocular Haemangioma: Optimising the Therapeutic Response.

    PubMed

    Taylor, Robert H

    2016-06-01

    Oral propranolol is now established as the first-line treatment for infantile haemangiomas, and used in up to 20 % of all cases. Propranolol use in infants is most commonly instigated in a controlled environment to monitor for potential serious adverse events such as hypoglycaemia and hypotension. Two test doses are recommended, the first one of 300 μg/kg followed by 2-hourly monitoring. On the subsequent day, a further dose of 650 μg/kg is administered with the same monitoring. A dose of 2 mg/kg divided into three is started from the next day. Parents/carers need to be warned of common adverse effects, of which disturbed sleep is the commonest. Treatment is recommended for up to a year to avoid rebound growth and the need to restart the treatment.

  7. [An epileptic syndrome in infantile cerebral palsy].

    PubMed

    Sumerkina, M L

    1997-01-01

    The results of examination of 102 patients with infantile cerebral paralysis (ICP) with epileptic syndrome (ES) at the age from 3 months to 14 years are presented. Epileptic fits predominated in patients with hemiparetic form of ICP (40.8%) and spastic diplegia (32.4%). ES manifestations were observed in ICP during the first 3 years of life (more than 80% of cases). The peculiarities of ES clinical course were revealed. There were determined the main types of seizures in patients with ICP which depended on age of their manifestation, as well as their further transformation and prognosis. Computer tomographic and EEG-correlations were established in different forms of ICP. They permitted to revealed pathogenetic mechanisms of ES development in patients with ICP and to determine therapeutic policy and prognosis of the disease. PMID:9163254

  8. Infantile Digital Fibroma: A Rare Fibromatosis.

    PubMed

    Marks, Etan; Ewart, Michelle

    2016-10-01

    Infantile digital fibroma is a rare benign lesion that usually occurs during the first 2 years of life. It can be multiple, but it is usually a single lesion. If it grows large enough it can cause joint deformities or interfere with everyday activities. Microscopically, the neoplastic cells usually have inclusion bodies that are best highlighted with a Masson trichrome stain but can often be seen on hematoxylin-eosin staining. Treatment for this entity is usually watchful waiting because of its ability to spontaneously regress, but excision is recommended if the lesion is symptomatic. More recently, fluorouracil or injectable steroids have shown great promise in inducing regression without the complications that accompany surgery.

  9. Abnormal Head Position in Infantile Nystagmus Syndrome

    PubMed Central

    Noval, Susana; González-Manrique, Mar; Rodríguez-Del Valle, José María; Rodríguez-Sánchez, José María

    2011-01-01

    Infantile nystagmus is an involuntary, bilateral, conjugate, and rhythmic oscillation of the eyes which is present at birth or develops within the first 6 months of life. It may be pendular or jerk-like and, its intensity usually increases in lateral gaze, decreasing with convergence. Up to 64% of all patients with nystagmus also present strabismus, and even more patients have an abnormal head position. The abnormal head positions are more often horizontal, but they may also be vertical or take the form of a tilt, even though the nystagmus itself is horizontal. The aim of this article is to review available information about the origin and treatment of the abnormal head position associated to nystagmus, and to describe our treatment strategies. PMID:24533187

  10. Infantile Digital Fibroma: A Rare Fibromatosis.

    PubMed

    Marks, Etan; Ewart, Michelle

    2016-10-01

    Infantile digital fibroma is a rare benign lesion that usually occurs during the first 2 years of life. It can be multiple, but it is usually a single lesion. If it grows large enough it can cause joint deformities or interfere with everyday activities. Microscopically, the neoplastic cells usually have inclusion bodies that are best highlighted with a Masson trichrome stain but can often be seen on hematoxylin-eosin staining. Treatment for this entity is usually watchful waiting because of its ability to spontaneously regress, but excision is recommended if the lesion is symptomatic. More recently, fluorouracil or injectable steroids have shown great promise in inducing regression without the complications that accompany surgery. PMID:27684985

  11. Primary Malignant Tumours of Bone Following Previous Malignancy

    PubMed Central

    Patton, J. T.; Sommerville, S. M. M.; Grimer, R. J.

    2008-01-01

    Destructive bone lesions occurring in patients who have previously had a malignancy are generally assumed to be a metastasis from that malignancy. We reviewed 60 patients with a previous history of malignancy, who presented with a solitary bone lesion that was subsequently found to be a new and different primary sarcoma of bone. These second malignancies occurred in three distinct groups of patients: (1) patients with original tumours well known to be associated with second malignancies (5%); (2) patients whose second malignancies were likely to be due to the previous treatment of their primary malignancy (40%); (3) patients in whom there was no clearly defined association between malignancies (55%). The purpose of this study is to emphasise the necessity for caution in assuming the diagnosis of a metastasis when a solitary bone lesion is identified following a prior malignancy. Inappropriate biopsy and treatment of primary bone sarcomas compromises limb salvage surgery and can affect patient mortality. PMID:18414590

  12. Hemostasis and malignancy.

    PubMed

    Francis, J L; Biggerstaff, J; Amirkhosravi, A

    1998-01-01

    There is considerable evidence that the hemostatic system is involved in the growth and spread of malignant disease. There is an increased incidence of thromboembolic disease in patients with cancers and hemostatic abnormalities are extremely common in such patients. Antihemostatic agents have been successfully used to treat a variety of experimental tumors, and several clinical trials in humans have been initiated. Although metastasis is undoubtedly multifactorial, intravascular coagulation activation and peritumor fibrin deposition seem to be important. The mechanisms by which hemostatic activation facilitates the malignant process remain to be completely elucidated. Of central importance may be the presence on malignant cells of tissue factor and urokinase receptor. Recent studies have suggested that these proteins, and others, may be involved at several stages of metastasis, including the key event of neovascularization. Tissue factor, the principal initiator of coagulation, may have additional roles, outside of fibrin formation, that are central to the biology of some solid tumors.

  13. Hemostasis and malignancy.

    PubMed

    Francis, J L; Biggerstaff, J; Amirkhosravi, A

    1998-01-01

    There is considerable evidence that the hemostatic system is involved in the growth and spread of malignant disease. There is an increased incidence of thromboembolic disease in patients with cancers and hemostatic abnormalities are extremely common in such patients. Antihemostatic agents have been successfully used to treat a variety of experimental tumors, and several clinical trials in humans have been initiated. Although metastasis is undoubtedly multifactorial, intravascular coagulation activation and peritumor fibrin deposition seem to be important. The mechanisms by which hemostatic activation facilitates the malignant process remain to be completely elucidated. Of central importance may be the presence on malignant cells of tissue factor and urokinase receptor. Recent studies have suggested that these proteins, and others, may be involved at several stages of metastasis, including the key event of neovascularization. Tissue factor, the principal initiator of coagulation, may have additional roles, outside of fibrin formation, that are central to the biology of some solid tumors. PMID:9579631

  14. Malignancy-Associated Dyslipidemia

    PubMed Central

    Bielecka-Dąbrowa, Agata; Hannam, Simon; Rysz, Jacek; Banach, Maciej

    2011-01-01

    Cholesterol and triglycerides, important lipid constituents of cell, are essential to carry out several vital physiological functions. Lipids might be associated with cancers because they play a key role in the maintenance of cell integrity. The pathway for cholesterol synthesis may also produce various tumorigenic compounds and cholesterol serves as a precursor for the synthesis of many sex hormones linked to increased risk of various cancers. In some malignant diseases, blood cholesterol undergoes early and significant changes. The mechanism for the link between cancer and cholesterol remains controversial. The dates from studies are confusing because both hypolipidemia and hypercholesterolemia might be connected with malignancy. Not only cancers but also antineoplastic therapies have an influence on lipid profile. There are also dates suggesting that antihyperlipemic drugs might nfluenced malignancy. PMID:21660223

  15. Surveillance for gastrointestinal malignancies

    PubMed Central

    Tiwari, Ashish K; Laird-Fick, Heather S; Wali, Ramesh K; Roy, Hemant K

    2012-01-01

    Gastrointestinal (GI) malignancies are notorious for frequently progressing to advanced stages even in the absence of serious symptoms, thus leading to delayed diagnoses and dismal prognoses. Secondary prevention of GI malignancies through early detection and treatment of cancer-precursor/premalignant lesions, therefore, is recognized as an effective cancer prevention strategy. In order to efficiently detect these lesions, systemic application of screening tests (surveillance) is needed. However, most of the currently used non-invasive screening tests for GI malignancies (for example, serum markers such as alpha-fetoprotein for hepatocellular carcinoma, and fecal occult blood test, for colon cancer) are only modestly effective necessitating the use of highly invasive endoscopy-based procedures, such as esophagogastroduodenoscopy and colonoscopy for screening purposes. Even for hepatocellular carcinoma where non-invasive imaging (ultrasonography) has become a standard screening tool, the need for repeated liver biopsies of suspicious liver nodules for histopathological confirmation can’t be avoided. The invasive nature and high-cost associated with these screening tools hinders implementation of GI cancer screening programs. Moreover, only a small fraction of general population is truly predisposed to developing GI malignancies, and indeed needs surveillance. To spare the average-risk individuals from superfluous invasive procedures and achieve an economically viable model of cancer prevention, it’s important to identify cohorts in general population that are at substantially high risk of developing GI malignancies (risk-stratification), and select suitable screening tests for surveillance in these cohorts. We herein provide a brief overview of such high-risk cohorts for different GI malignancies, and the screening strategies that have commonly been employed for surveillance purpose in them. PMID:22969223

  16. "Malignant Cutaneous Ulcer".

    PubMed

    Sundriyal, Deepak; Kotwal, Sumedha

    2016-09-01

    Renal cell carcinoma (RCC) is an aggressive malignancy and the rich vascular supply enables it to metastasize early via haematogenous route. Skin lesions are a late manifestation of the disease. Clinicians should be aware of cutaneous presentation of RCC while evaluating a case of unknown primary with skin lesions. PMID:27651705

  17. Immunotherapy for malignant glioma.

    PubMed

    Suryadevara, Carter M; Verla, Terence; Sanchez-Perez, Luis; Reap, Elizabeth A; Choi, Bryan D; Fecci, Peter E; Sampson, John H

    2015-01-01

    Malignant gliomas (MG) are the most common type of primary malignant brain tumor. Most patients diagnosed with glioblastoma (GBM), the most common and malignant glial tumor, die within 12-15 months. Moreover, conventional treatment, which includes surgery followed by radiation and chemotherapy, can be highly toxic by causing nonspecific damage to healthy brain and other tissues. The shortcomings of standard-of-care have thus created a stimulus for the development of novel therapies that can target central nervous system (CNS)-based tumors specifically and efficiently, while minimizing off-target collateral damage to normal brain. Immunotherapy represents an investigational avenue with the promise of meeting this need, already having demonstrated its potential against B-cell malignancy and solid tumors in clinical trials. T-cell engineering with tumor-specific chimeric antigen receptors (CARs) is one proven approach that aims to redirect autologous patient T-cells to sites of tumor. This platform has evolved dramatically over the past two decades to include an improved construct design, and these modern CARs have only recently been translated into the clinic for brain tumors. We review here emerging immunotherapeutic platforms for the treatment of MG, focusing on the development and application of a CAR-based strategy against GBM.

  18. Malignant Melanoma of the Foot

    MedlinePlus

    ... Javascript in your browser. Malignant Melanoma of the Foot What is Malignant Melanoma? Melanoma is a cancer ... age groups, even the young. Melanoma in the Foot Melanoma that occurs in the foot or ankle ...

  19. [Infantile meningitis caused by respiratory syncytial virus].

    PubMed

    Shirota, Go; Morozumi, Miyuki; Ubukata, Kimiko; Shiro, Hiroyuki

    2011-11-01

    Respiratory syncytial (RS) virus commonly causes infantile respiratory tract infection causing significant morbidity and mortality, but rarely meningitis. We report a case of meningitis caused by RS virus subgroup B in a 56-day-old boy admitted for high fever who underwent blood examination and lumbar puncture. Empirical chemotherapy was started with intravenous ampicillin, gentamicin, and cefotaxime based on laboratory data on CSF cells (84/microL) and serum CRP (13.8mg/dL) data. RS virus subgroup B was only detected using real-time PCR comprehensive reverse transcription from the first CSF, but no bacterial gene was detected. No bacteria grew from his CSF, urine, or blood. Fever and serum CRP dropped in a few days. He had neither seizures nor disturbance of consciousness and was discharged on day 11 after admission. No evidence of encephalopathy was detected in brain MRI or electroencephalography. RS virus rarely causes meningitis, but a percentage of RS-virus-infected infants exhibit symptoms such as seizure and disturbance of consciousness. We should recognize that the RS virus may cause neurological complications associated with high morbidity and mortality.

  20. [Accompanying symptoms in infantile spastic hemiplegia].

    PubMed

    Feldkamp, M; Schuknecht, C; Eisenkolb, T

    1985-01-01

    Various concomitant disorders in 535 children with infantile hemiplegia were evaluated; 159 of the cases were particularly well documented. The right/left distribution of the hemiplegia was 56 to 44, the ratio of boys to girls 59 to 41. Severe impairments of hand function (lack of function, first grip) were found more frequently in right hemiplegics than left; the ratio of severe to slight disorders was approx. 3 to 1 in right hemiplegics and 3 to 2 in left hemiplegics. Impairment of hand function was closely related to the quality of sensitivity, the tests of this being based on two-point discrimination and stereognosis. Sixty-two percent of the children were of normal intelligence; of the remainder, approximately equal-sized groups suffered from impairment of the learning faculty or were mentally retarded. There was a positive correlation between reduced intelligence and the severity of impairment of hand function. Impaired speech development was found in 7 percent of the children, right and left hemiplegics being equally affected. Thus, there was no evidence that the brain lesion had any special influence on development of speech. Observations of growth in the legs revealed average differences of length of 2 mm and up to 3.5 cm in isolated cases. After eight year of life there was practically no further increase in the differences in length. PMID:4050042

  1. Hyaluronan in human malignancies

    SciTech Connect

    Sironen, R.K.; Tammi, M.; Tammi, R.; Auvinen, P.K.; Anttila, M.; Kosma, V-M.

    2011-02-15

    Hyaluronan, a major macropolysaccharide in the extracellular matrix of connective tissues, is intimately involved in the biology of cancer. Hyaluronan accumulates into the stroma of various human tumors and modulates intracellular signaling pathways, cell proliferation, motility and invasive properties of malignant cells. Experimental and clinicopathological evidence highlights the importance of hyaluronan in tumor growth and metastasis. A high stromal hyaluronan content is associated with poorly differentiated tumors and aggressive clinical behavior in human adenocarcinomas. Instead, the squamous cell carcinomas and malignant melanomas tend to have a reduced hyaluronan content. In addition to the stroma-cancer cell interaction, hyaluronan can influence stromal cell recruitment, tumor angiogenesis and epithelial-mesenchymal transition. Hyaluronan receptors, hyaluronan synthases and hyaluronan degrading enzymes, hyaluronidases, are involved in the modulation of cancer progression, depending on the tumor type. Furthermore, intracellular signaling and angiogenesis are affected by the degradation products of hyaluronan. Hyaluronan has also therapeutic implications since it is involved in multidrug resistance.

  2. Metastatic malignant chondroblastoma.

    PubMed

    Rodgers, W B; Mankin, H J

    1996-12-01

    A case of malignant chondroblastoma with metastases is reported. The patient initially presented with a lytic lesion in his left pubic ramus. He was treated with curettage, but the lesion recurred 3 years later. After repeated curettage, radiation therapy, and the late development of multiple bone and soft-tissue metastases, he succumbed to his disease 13 years after diagnosis. The surgical pathology from each of his several procedures was reviewed. Although no definite malignant transformation was apparent, a metastatic deposit curetted 3 months prior to death showed some increase in mitotic activity. Flow cytometry of specimens from the patient's first local recurrence and a late distant metastasis was performed and revealed the interval development of a minor aneuploid peak between the two samples. This fatal chondroblastoma is the only one in our series of 80 patients treated over the past 25 years. PMID:9001683

  3. Nicotinamide Phosphoribosyltransferase in Malignancy

    PubMed Central

    Shackelford, Rodney E.; Mayhall, Kim; Maxwell, Nicole M.; Kandil, Emad

    2013-01-01

    Nicotinamide phosphoribosyltransferase (Nampt) catalyzes the rate-limiting step of nicotinamide adenine dinucleotide (NAD) synthesis. Both intracellular and extracellular Nampt (iNampt and eNampt) levels are increased in several human malignancies and some studies demonstrate increased iNampt in more aggressive/invasive tumors and in tumor metastases. Several different molecular targets have been identified that promote carcinogenesis following iNampt overexpression, including SirT1, CtBP, and PARP-1. Additionally, eNampt is elevated in several human cancers and is often associated with a higher tumor stage and worse prognoses. Here we review the roles of Nampt in malignancy, some of the known mechanisms by which it promotes carcinogenesis, and discuss the possibility of employing Nampt inhibitors in cancer treatment. PMID:24386506

  4. Lymphoscintigraphy in malignant melanoma

    SciTech Connect

    Berman, C.G.; Norman, J.; Cruse, C.W.; Reintgen, D.S.; Clark, R.A. )

    1992-01-01

    The development and rationale for the use of lymphoscintigraphy in the preoperative evaluation of patients with malignant melanoma being considered for elective lymph node dissection is reviewed. This overview is updated by an analysis of 135 patients with early stage malignant melanoma involving the head, neck, shoulders, and trunk at Moffitt Cancer Center and Research Institute at the University of South Florida (Tampa, FL). High discordancy rates (overall, 41%) were seen between drainage patterns predicted from historical anatomical guidelines and those revealed by the lymphoscintigraphic examination. The high discordancy rate was most pronounced in the head (64%) and the neck (73%). Surgical management was changed in 33% of the patients, overall. A preoperative lymphoscintigram is recommended for all patients with melanoma with head, neck, and truncal lesions evaluated for elective lymph node dissection as the lymphatic drainage patterns are often unpredictable and variable.

  5. Asbestos-related malignancy.

    PubMed

    Talcott, J A; Antman, K H

    1988-01-01

    Asbestos-associated malignancies have received significant attention in the lay and medical literature because of the increasing frequency of two asbestos-associated tumors, lung carcinoma and mesothelioma; the wide distribution of asbestos; its status as a prototype environmental carcinogen; and the many recent legal compensation proceedings, for which medical testimony has been required. The understanding of asbestos-associated carcinogenesis has increased through study of animal models, human epidemiology, and, recently, the application of modern molecular biological techniques. However, the detailed mechanisms of carcinogenesis remain unknown. A wide variety of malignancies have been associated with asbestos, although the strongest evidence for a causal association is confined to lung cancer and mesothelioma. Epidemiological studies have provided evidence that both the type of asbestos fiber and the industry in which the exposure occurs may affect the rates of asbestos-associated cancers. It has been shown that asbestos exerts a carcinogenic effect independent of exposure to cigarette smoking that, for lung cancers, is synergistically enhanced by smoking. Other questions remain controversial, such as whether pulmonary fibrosis necessarily precedes asbestos-associated lung cancer and whether some threshold level of exposure to asbestos (including low-dose exposures that may occur in asbestos-associated public buildings) may be safe. Mesothelioma, the most closely asbestos-associated malignancy, has a dismal natural history and has been highly resistant to therapy. However, investigational multi-modality therapy may offer benefit to some patients. A description of the processes through which compensation claims for asbestos-associated malignancies are evaluated illustrates for physicians the legal system's approach to possible injury from toxic substances. The differences between scientific and legal reasoning about the causes of diseases with long latency

  6. Role of protein rich maternal diet in infantile colic.

    PubMed

    Mhaske, Sunil; Mhaske, Sandeep; Badrinarayan, S; Zade, Rohan; Shirsath, Ujjwala

    2012-05-01

    Infantile colic in exclusively breastfed infant is very common. The mother in this situation gets panickyand under stress. This is very common emergency in paediatric hospital. Infantile colic is characterised by paroxysms of uncontrollable crying in an otherwise healthy and well fed infants younger than three months of age, more specifically infantile colic is defined as cry exceeding 180 minutes per 24 hours on 3 days in the week in first 3 months of life. The incidence of infantile colic is 5 to 19% in different studies. The mothers' description of this condition is that the breastfed baby who has been apparently alright in the day, frowns, his face becomes red, draws up his legs, screams, continues to cry for about 2 to 20 minutes and then attack ends suddenly. Episodes of cry are usually clustered in the late evening and early morning hours, which may cause significant disruption of family interactions. To find out the any supportive cause for infantile colic pertaining to maternal diet, we have conducted a study, where 110 crying infants were examined who happened to attend paediatric department over a period of one year. In this study it was found that more infants (50%) were in the age group >2-3 months, then >1-2 months (39.09%). Most of the patients happened to attend in casualty hours (5PM-9 AM) than in OPD hours (9 AM - 5 PM). Most cases (30.9%) took pulses in last 48 hours, followed by buffalo milk (20%). Most mothers (n=34) took pulses in diet in last 48 hours. It can be concluded that protein rich diet in one of the factor causing infantile colic. PMID:23360024

  7. Asbestos-related malignancy

    SciTech Connect

    Talcott, J.A.; Antman, K.H.

    1988-05-01

    Asbestos-associated malignancies have received significant attention in the lay and medical literature because of the increasing frequency of two asbestos-associated tumors, lung carcinoma and mesothelioma; the wide distribution of asbestos; its status as a prototype environmental carcinogen; and the many recent legal compensation proceedings, for which medical testimony has been required. The understanding of asbestos-associated carcinogenesis has increased through study of animal models, human epidemiology, and, recently, the application of modern molecular biological techniques. However, the detailed mechanisms of carcinogenesis remain unknown. A wide variety of malignancies have been associated with asbestos, although the strongest evidence for a causal association is confined to lung cancer and mesothelioma. Epidemiological studies have provided evidence that both the type of asbestos fiber and the industry in which the exposure occurs may affect the rates of asbestos-associated cancers. It has been shown that asbestos exerts a carcinogenic effect independent of exposure to cigarette smoking that, for lung cancers, is synergistically enhanced by smoking. Other questions remain controversial, such as whether pulmonary fibrosis necessarily precedes asbestos-associated lung cancer and whether some threshold level of exposure to asbestos (including low-dose exposures that may occur in asbestos-associated public buildings) may be safe. Mesothelioma, the most closely asbestos-associated malignancy, has a dismal natural history and has been highly resistant to therapy. However, investigational multi-modality therapy may offer benefit to some patients. 179 references.

  8. Epigenetics in the hematologic malignancies

    PubMed Central

    Fong, Chun Yew; Morison, Jessica; Dawson, Mark A.

    2014-01-01

    A wealth of genomic and epigenomic data has identified abnormal regulation of epigenetic processes as a prominent theme in hematologic malignancies. Recurrent somatic alterations in myeloid malignancies of key proteins involved in DNA methylation, post-translational histone modification and chromatin remodeling have highlighted the importance of epigenetic regulation of gene expression in the initiation and maintenance of various malignancies. The rational use of targeted epigenetic therapies requires a thorough understanding of the underlying mechanisms of malignant transformation driven by aberrant epigenetic regulators. In this review we provide an overview of the major protagonists in epigenetic regulation, their aberrant role in myeloid malignancies, prognostic significance and potential for therapeutic targeting. PMID:25472952

  9. The genetic landscape of infantile spasms.

    PubMed

    Michaud, Jacques L; Lachance, Mathieu; Hamdan, Fadi F; Carmant, Lionel; Lortie, Anne; Diadori, Paola; Major, Philippe; Meijer, Inge A; Lemyre, Emmanuelle; Cossette, Patrick; Mefford, Heather C; Rouleau, Guy A; Rossignol, Elsa

    2014-09-15

    Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40% of patients. We hypothesized that unexplained IS cases represent a large collection of rare single-gene disorders. We investigated 44 children with unexplained IS using comparative genomic hybridisation arrays (aCGH) (n = 44) followed by targeted sequencing of 35 known epilepsy genes (n = 8) or whole-exome sequencing (WES) of familial trios (n = 18) to search for rare inherited or de novo mutations. aCGH analysis revealed de novo variants in 7% of patients (n = 3/44), including a distal 16p11.2 duplication, a 15q11.1q13.1 tetrasomy and a 2q21.3-q22.2 deletion. Furthermore, it identified a pathogenic maternally inherited Xp11.2 duplication. Targeted sequencing was informative for ARX (n = 1/14) and STXBP1 (n = 1/8). In contrast, sequencing of a panel of 35 known epileptic encephalopathy genes (n = 8) did not identify further mutations. Finally, WES (n = 18) was very informative, with an excess of de novo mutations identified in genes predicted to be involved in neurodevelopmental processes and/or known to be intolerant to functional variations. Several pathogenic mutations were identified, including de novo mutations in STXBP1, CASK and ALG13, as well as recessive mutations in PNPO and ADSL, together explaining 28% of cases (5/18). In addition, WES identified 1-3 de novo variants in 64% of remaining probands, pointing to several interesting candidate genes. Our results indicate that IS are genetically heterogeneous with a major contribution of de novo mutations and that WES is significantly superior to targeted re-sequencing in identifying detrimental genetic variants involved in IS. PMID:24781210

  10. Oral atenolol therapy for proliferating infantile hemangioma

    PubMed Central

    Ji, Yi; Wang, Qi; Chen, Siyuan; Xiang, Bo; Xu, Zhicheng; Li, Yuan; Zhong, Lin; Jiang, Xiaoping; Yang, Xiaodong

    2016-01-01

    Abstract Propranolol, a lipophilic nonselective β-blocker, has recently been reported to be the treatment of choice for select types of infantile hemangiomas (IHs). Atenolol is a hydrophilic, selective β1-blocker and therefore may be not associated with side effects attributable to β2-adrenergic receptor blockade and lipophilicity. However, the efficacy and safety of atenolol in the treatment of IH are poorly understood. The aim of this study was to evaluate the efficacy and safety of atenolol in the treatment of proliferating IHs. A study of 76 infants between the ages of 5 to 20 weeks with superficial or mixed IH was conducted between August 2013 and March 2015. Oral atenolol was administered in a progressive schedule to 1 mg/kg per day in a single dose. Efficacy was assessed using the Hemangioma Activity Score (HAS) at weeks 0, 1, 4, 12, and 24. Safety was evaluated at weeks 0, 1, 4, 8, 12, 16, 20, and 24. In total, 70 patients completed 24 weeks of treatment. IH growth abruptly stopped for 93.4% of patients within the fourth week of treatment with atenolol. In ulcerated IHs, complete healing of the ulcerations occurred in an average treatment time of 5.5 weeks. Atenolol treatment promoted dramatic decreases in HAS scores after week 1. An “excellent” treatment response (compete or nearly complete resolution of the IH) was observed in 56.5% of patients at week 24. No significant hypoglycemia, bronchospasm, bradycardia, or hypotension occurred. The most common adverse event was diarrhea, followed by agitation and sleep disturbance. This study demonstrated that atenolol was effective and safe at a dose of 1 mg/kg per day for 24 weeks in the treatment of proliferating IHs. PMID:27310994

  11. The epidemiology of infantile hypertrophic pyloric stenosis.

    PubMed

    Schechter, R; Torfs, C P; Bateson, T F

    1997-10-01

    Infants with infantile hypertrophic pyloric stenosis (IHPS) born from 1983 to 1988 and recorded in the California Birth Defects Monitoring Program (CBDMP) database were compared with their birth cohort by demographic characteristics and selected associated birth defects. We identified 1963 cases of IHPS for a cumulative incidence of 1.9 per 1000 livebirths. The cumulative incidence per 1000 livebirths was 2.4 in White, 1.8 in Hispanic, 0.7 in Black, and 0.6 in Asian infants. Between weeks 3-12 after birth, 1871 (95%) IHPS cases were diagnosed. Premature infants were diagnosed with IHPS later than term or post-term infants. The incidence of IHPS declined for those born to maternal age groups of > or = 25 years and, independently, for successive birth ranks. The probandwise concordance rate for IHPS in monozygous twins was less than unity (0.25-0.44), although higher than the concordance for dizygous twins (0.05-0.10). The incidence of Smith-Lemli-Opitz syndrome (SLO) diagnosed in infants with IHPS (3 of 1963) was 157-fold higher than the incidence of SLO diagnosed in the CBDMP population. IHPS occurs in all of the largest racial and ethnic groups in California, most frequently in White and Hispanic infants. Pyloric stenosis presents only within a brief phase of development, which may be delayed in premature infants. A predominant discordance of disease state in monozygous twins implies an aetiological role for undetermined environmental factors. The association between SLO, caused by deficient cholesterol synthesis, and IHPS deserves additional study. Infants with suspected SLO require close observation for the onset of IHPS.

  12. Malignant testicular tumours

    PubMed Central

    Vecchio, Pierre Del; Tawil, Elie; Béland, Gilles

    1974-01-01

    A series of 71 patients with malignant testicular tumours treated primarily by orchiectomy and irradiation is reviewed with respect to pathological and clinical features and modes of treatment. The three-year crude survival rate in 36 patients with seminoma was 86% and in 24 patients with carcinoma it was 41.7%. There were no survivors among patients with choriocarcinoma. Our results are comparable with those of other series. A prospective study is proposed of the value of irradiation and subsequent limited lymph node dissection following orchiectomy in cases of carcinoma of the testis. PMID:4855670

  13. Intraoral malignant melanoma

    PubMed Central

    Babburi, Suresh; Subramanyam, R. V.; Aparna, V.; Sowjanya, P.

    2013-01-01

    Primary oral mucosal melanoma is a rare aggressive neoplasm and accounts for only 0.2-8% of all reported melanomas. It is a malignant neoplasm of melanocytes that may arise from a benign melanocytic lesion or de novo from melanocytes within normal skin or mucosa. It is considered to be the most deadly and biologically unpredictable of all human neoplasms, having the worst prognosis. In this article, we report a case of oral melanoma in a 52-year-old female patient with a chief complaint of black discolouration of the maxillary gingiva and palate. PMID:24249959

  14. Part One: Infantile Spasms--The New Consensus

    ERIC Educational Resources Information Center

    Pellock, John

    2011-01-01

    Infantile spasms (IS, West syndrome) represent a difficult to treat and sometimes not immediately recognized form of epilepsy which is relatively rare. West Syndrome or IS is one of the most recognized types of epileptic encephalopathy, a form of epilepsy usually associated with developmental regression and delay, frequently difficult to treat and…

  15. Infantile Spasms and Cytomegalovirus Infection: Antiviral and Antiepileptic Treatment

    ERIC Educational Resources Information Center

    Dunin-Wasowicz, Dorota; Kasprzyk-Obara, Jolanta; Jurkiewicz, Elzbieta; Kapusta, Monika; Milewska-Bobula, Bogumila

    2007-01-01

    From 1 January 1995 to 31 December 2004, 22 patients (13 males, nine females; age range 2-12mo) with infantile spasms and cytomegalovirus (CMV) infection were treated with intravenous ganciclovir (GCV) and antiepileptic drugs. GCV was given for 3 to 12 weeks with a 1-month interval (one, two, or three courses). Epileptic spasms occurred before…

  16. Molecular genetics of infantile-onset retinal dystrophies.

    PubMed

    Moradi, P; Moore, A T

    2007-10-01

    Over the last decade there have been major advances in our understanding of the molecular pathology of inherited retinal dystrophies. This paper reviews recent advances in the identification of genetic mutations underlying infantile-onset inherited retinal disorders and considers how this knowledge may lead to novel therapeutic approaches.

  17. Conservative treatment of infantile subglottic hemangioma with corticosteroids.

    PubMed

    Kveton, J F; Pillsbury, H C

    1982-02-01

    Infantile subglottic hemangioma is a rare, potentially fatal cause of airway obstruction. Diagnosis is made by history, neck roentgenograms, and direct laryngoscopy. A regimen of high-dose intravenous steroids in combination with oxygen and a mist tent is the preferred mode of therapy in cases where tracheostomy is not required. PMID:7059313

  18. Molecular genetics of infantile-onset retinal dystrophies.

    PubMed

    Moradi, P; Moore, A T

    2007-10-01

    Over the last decade there have been major advances in our understanding of the molecular pathology of inherited retinal dystrophies. This paper reviews recent advances in the identification of genetic mutations underlying infantile-onset inherited retinal disorders and considers how this knowledge may lead to novel therapeutic approaches. PMID:17914438

  19. Infantile amnesia reflects a developmental critical period for hippocampal learning.

    PubMed

    Travaglia, Alessio; Bisaz, Reto; Sweet, Eric S; Blitzer, Robert D; Alberini, Cristina M

    2016-09-01

    Episodic memories formed during the first postnatal period are rapidly forgotten, a phenomenon known as 'infantile amnesia'. In spite of this memory loss, early experiences influence adult behavior, raising the question of which mechanisms underlie infantile memories and amnesia. Here we show that in rats an experience learned during the infantile amnesia period is stored as a latent memory trace for a long time; indeed, a later reminder reinstates a robust, context-specific and long-lasting memory. The formation and storage of this latent memory requires the hippocampus, follows a sharp temporal boundary and occurs through mechanisms typical of developmental critical periods, including the expression switch of the NMDA receptor subunits from 2B to 2A, which is dependent on brain-derived neurotrophic factor (BDNF) and metabotropic glutamate receptor 5 (mGluR5). Activating BDNF or mGluR5 after training rescues the infantile amnesia. Thus, early episodic memories are not lost but remain stored long term. These data suggest that the hippocampus undergoes a developmental critical period to become functionally competent. PMID:27428652

  20. The Organic Etiology of Infantile Autism: Myth or Fact?

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The author reviews theories and research on the etiology of infantile autism, specifically regarding its organic basis. He cites controversies over its organic vs. environmental basis and over the family's impact on autism. Quotes from such theoriests as L. Kanner, B. Bettleheim, and B. Rimland are presented along with E. R. Ritvo and M. Coleman.…

  1. Pleural malignancies including mesothelioma.

    PubMed

    Hillerdal, G

    1995-07-01

    Malignant mesothelioma is caused almost exclusively by occupational exposure to asbestos. During the past few years, however, increasing evidence has mounted that background exposure to asbestos could be sufficient to cause mesothelioma. Treatment of malignant mesothelioma remains a big problem. Some new approaches are on their way, and the most exciting ones are local immunotherapy in very early cases. Some success has been reported with local interferon treatment. As for treatment of metastatic pleural disease, the main purpose is symptomatic relief of dyspnea caused by fluid accumulation. The best way to achieve a lasting palliation is pleurodesis, and the most common way to do this, is by chemical means. The drug of choice in the United States has for many years been tetracycline, but since injectable tetracycline is no longer available, some substitute must be found. The substance that will "win" is not yet clear, but the two leading contestants are talc and doxycycline. Bleomycin also has its supporters, and a dark horse is quinacrine, which although not easily available in the United States, has been used in many European centers for decades. PMID:9363074

  2. Malignant pleural mesothelioma.

    PubMed

    Boutin, C; Schlesser, M; Frenay, C; Astoul, P

    1998-10-01

    The incidence of malignant pleural mesothelioma (MPM) has risen for some decades and is expected to peak between 2010 and 2020. Up to now, no single treatment has been proven to be effective and death usually occurs within about 12-17 months after diagnosis. Perhaps because of this poor prognosis, early screening has incited little interest. However, certain forms may have a better prognosis when diagnosed early and treated by multimodal therapy or intrapleural immunotherapy. Diagnosis depends foremost on histological analysis of samples obtained by thoracoscopy. This procedure allows the best staging of the pleural cavity with an attempt to detect visceral pleural involvement, which is one of the most important prognostic factors. Although radiotherapy seems necessary and is efficient in preventing the malignant seeding after diagnostic procedures in patients, there has been no randomized phase III study showing the superiority of any treatment compared with another. However, for the early-stage disease (stage I) a logical therapeutic approach seems to be neoadjuvant intrapleural treatment using cytokines. For more advanced disease (stages II and III) resectability should be discussed with the thoracic surgeons and a multimodal treatment combining surgery, radiotherapy and chemotherapy should be proposed for a randomized controlled study. Palliative treatment is indicated for stage IV. In any case, each patient should be enrolled in a clinical trial.

  3. Improving Outcomes in Infantile Spasms: Role of Pharmacotherapy.

    PubMed

    Iyer, Anand; Appleton, Richard

    2016-10-01

    Infantile spasms, and specifically within the context of West syndrome , is one of the most common epileptic encephalopathies to occur in early infancy. Early recognition and treatment can improve neurodevelopmental outcome in some cases, although the underlying aetiology is probably the most important prognostic factor in both spasm suppression and developmental outcome. Corticosteroids, either adrenocorticotrophic hormone (ACTH) or prednisolone, and vigabatrin are currently the preferred first-line treatment options. Vigabatrin is the treatment of choice when the underlying cause is tuberous sclerosis complex (TSC). Emerging evidence suggests that a combination of steroid and vigabatrin may be more effective in the suppression of spasms and resolution of hypsarrhythmia, the electro-encephalographic signal of spasms. Several other anti-epileptic drugs (AEDs) (levetiracetam, nitrazepam, sodium valproate, topiramate, zonisamide) are usually used as add-on or adjunctive treatment in refractory cases. Pyridoxine (or pyridoxal phosphate) and the ketogenic diet are established treatment options in refractory cases. There is some evidence that neuro-active steroids, including ganaxolone, may be effective; however, clinical trials undertaken intermittently for over a decade have yet to prove their efficacy, not only for the suppression of infantile spasms but also for the resolution of hypsarrhythmia, which may be as important as seizure control in developmental outcome in these children. Insights into developing novel treatment options have emerged from rodent models of infantile spasms, and research is continuing into the efficacy of rapamycin in improving outcomes in infantile spasms. This review provides a brief overview of the existing scientific literature around treatment options and outlines emerging newer treatment options in infantile spasms. PMID:27541933

  4. From Infantile Citizens to Infantile Institutions: The Metaphoric Transformation of Political Economy in the 2008 Housing Market Crisis

    ERIC Educational Resources Information Center

    Foley, Megan

    2012-01-01

    The logic of political economy depends on a domestic metaphor, using the "oikos" or household as a model for the "polis." Historically, this metaphor has imagined citizens as the children of a paternal state. However during the 2008 housing crisis, this metaphor was turned upside down, depicting citizens as the parents of infantile state…

  5. Duplication 16p11.2 in a child with infantile seizure disorder.

    PubMed

    Bedoyan, Jirair K; Kumar, Ravinesh A; Sudi, Jyotsna; Silverstein, Faye; Ackley, Todd; Iyer, Ramaswamy K; Christian, Susan L; Martin, Donna M

    2010-06-01

    Submicroscopic recurrent 16p11.2 rearrangements are associated with several neurodevelopmental disorders, including autism, mental retardation, and schizophrenia. The common 16p11.2 region includes 24 known genes, of which 22 are expressed in the developing human fetal nervous system. As yet, the mechanisms leading to neurodevelopmental abnormalities and the broader phenotypes associated with deletion or duplication of 16p11.2 have not been clarified. Here we report a child with spastic quadriparesis, refractory infantile seizures, severe global developmental delay, hypotonia, and microcephaly, and a de novo 598 kb 16p11.2 microduplication. Family history is negative for any of these features in parents and immediate family members. Sequencing analyses showed no mutations in DOC2A, QPRT, and SEZ6L2, genes within the duplicated 16p11.2 region that have been implicated in neuronal function and/or seizure related phenotypes. The child's clinical course is consistent with a rare seizure disorder called malignant migrating partial seizure disorder of infancy, raising the possibility that duplication or disruption of genes in the 16p11.2 interval may contribute to this severe disorder. PMID:20503337

  6. Neuroleptic malignant syndrome.

    PubMed

    Ingall, T J; Tennant, C

    1986-11-01

    The neuroleptic malignant syndrome is a relatively rare but potentially fatal complication of the use of major tranquillizers; mortality may be as high as 20%. The syndrome is manifest by the onset of hyperpyrexia, muscular rigidity and tremor, impaired consciousness and autonomic dysfunction. The pathophysiology is thought to be by way of dopamine receptor blockade. The syndrome is managed by cessation of the neuroleptic medication, by supportive measures and by instituting treatment with one or more of a number of specific drugs whose use is based on theoretical considerations rather than empirical evidence of efficacy; these drugs include anticholinergics, L-dopa, bromocriptine amantidine and dantrolene sodium. Although not proven, early recognition and treatment may reduce both the mortality and the longer term morbidity of this syndrome. PMID:3773831

  7. Primary pineal malignant melanoma

    PubMed Central

    Cedeño Diaz, Oderay Mabel; Leal, Roberto García; La Cruz Pelea, Cesar

    2011-01-01

    Primary pineal malignant melanoma is a rare entity, with only thirteen cases reported in the world literature to date. We report a case of a 70-year-old man, who consulted with gait disturbance of six months duration, associated in the last month with dizziness, visual abnormalities and diplopia. No other additional melanocytic lesions were found elsewhere. The magnetic resonance showed a 25 mm expansive mass in the pineal gland that was associated with hydrocephaly, ventricular and transependimary oedema. The lesion was partially excised by a supracerebellar infratentorial approach. The histological examination revealed a melanoma. The patient received radiation therapy, but died of disease 16 weeks later. We herein review the literature on this rare tumour and comment on its clinical, radiological and histopathological features and differential diagnosis. PMID:24765293

  8. The malignant primate?

    PubMed

    de Grouchy, J

    1991-01-01

    Speciation and carcinogenesis result from genomic instability at the gametic or at the somatic levels. After an infinity of trials they occur, by chromosome rearrangements, in single individuals or in single cells and evolve by similar chromosomal or clonal evolutions. Loss of heterozygosity for the first event is essential in both processes: in evolution, a chromosomal rearrangement, a pericentric inversion or a Robertsonian fusion, must become homozygous to ensure a reproductive barrier for a new species; Knudson's two-event sequence is a similar situation in cancer. Position effect is equally important: we have shown overexpression of the SOD1 gene in the orangutan phylum probably by an intrachromosomal rearrangement; the t(9;22) in CML acts by typical position effect. Parental imprinting underlies the evolution of genome function and the unset of certain cancers. Evolution and malignancy are interweaved by viruses and oncogenes since the dawn of life. Cancer uses its intelligence to expand and to destroy the other tissues, using subtle metabolic pathways and a variety of tricks to metastasize other cells. It always wins but saws the branch on which it sits. Mankind also grows exponentially, killing thousands of other species, poisoning the oceans and soft waters, polluting the atmosphere, all for his egoistic needs. Man also travels and metastasizes other Earths. He modifies his genome or that of other species, and develops new technologies for his reproduction. He can destroy the planet in an eyeblink. To be or not to be the malignant primate, that will be the dilemma for the 21st Century. PMID:1809219

  9. Iron overload and hematologic malignancies.

    PubMed

    Franchini, Massimo; Veneri, Dino

    2004-01-01

    Although iron is essential for cell replication and survival, an increase of body iron stores has been implicated in the development of cancer. However, while the association between iron overload and hepatocellular carcinoma is well documented, the relationship with nonhepatocellular malignancies remains ill-defined. In this review, we briefly report the present knowledge regarding the association between iron overload and hematologic malignancies.

  10. Infantile Hepatic Hemangioendothelioma: An Uncommon Cause of Persistent Pulmonary Hypertension in a Newborn Infant.

    PubMed

    Chatmethakul, Trassanee; Bhat, Ramachandra; Alkaabi, Maryam; Siddiqui, Abdul; Peevy, Keith; Zayek, Michael

    2016-07-01

    Multifocal and diffuse infantile hepatic hemangioendotheliomas commonly present with signs of high-output congestive heart failure. In addition, prolonged persistent pulmonary overcirculation eventually leads to the development of pulmonary hypertension at a later age. We report a 2-day old, full-term infant with multifocal, large infantile hepatic hemangioendothelioma, who presented with an early onset of pulmonary hypertension, managed successfully with supportive care and systemic therapy directed toward the involution of infantile hepatic hemangioendothelioma.

  11. Infantile Hepatic Hemangioendothelioma: An Uncommon Cause of Persistent Pulmonary Hypertension in a Newborn Infant

    PubMed Central

    Chatmethakul, Trassanee; Bhat, Ramachandra; Alkaabi, Maryam; Siddiqui, Abdul; Peevy, Keith; Zayek, Michael

    2016-01-01

    Multifocal and diffuse infantile hepatic hemangioendotheliomas commonly present with signs of high-output congestive heart failure. In addition, prolonged persistent pulmonary overcirculation eventually leads to the development of pulmonary hypertension at a later age. We report a 2-day old, full-term infant with multifocal, large infantile hepatic hemangioendothelioma, who presented with an early onset of pulmonary hypertension, managed successfully with supportive care and systemic therapy directed toward the involution of infantile hepatic hemangioendothelioma. PMID:27468364

  12. [Acupoint Selection Laws for Massage Therapy of Infantile Anorexia: an Analysis Based on Data Mining].

    PubMed

    Liu, Kai; Wang Jie; Wang, Yan-guo

    2016-06-01

    Massage prescriptions for treating infantile anorexia in Chinese Academic Journal Full-Text Database (CNKI, 1979-2012), Chinese Scientific and Technological Journal Full-Text Database (VIP, 1989-2012) and Wanfang Database (1990-2012) were collected. By using Chinese Medicine Inheritance Auxiliary Platform (Version 2.0) Software, 286 massage prescriptions for treatment of infantile anorexia were screened involved 76 acupoints, 20 commonly used acupoints, and 57 core acupoint combinations. Infantile Tuina specific points were used as main acupoints in massage therapy for infantile anorexia, and core acupoints covered Jizhu, Pi meridian, abdomen, Nei-Bagua, Zusanli (ST36), and Ban-men. PMID:27491238

  13. [Acupoint Selection Laws for Massage Therapy of Infantile Anorexia: an Analysis Based on Data Mining].

    PubMed

    Liu, Kai; Wang Jie; Wang, Yan-guo

    2016-06-01

    Massage prescriptions for treating infantile anorexia in Chinese Academic Journal Full-Text Database (CNKI, 1979-2012), Chinese Scientific and Technological Journal Full-Text Database (VIP, 1989-2012) and Wanfang Database (1990-2012) were collected. By using Chinese Medicine Inheritance Auxiliary Platform (Version 2.0) Software, 286 massage prescriptions for treatment of infantile anorexia were screened involved 76 acupoints, 20 commonly used acupoints, and 57 core acupoint combinations. Infantile Tuina specific points were used as main acupoints in massage therapy for infantile anorexia, and core acupoints covered Jizhu, Pi meridian, abdomen, Nei-Bagua, Zusanli (ST36), and Ban-men.

  14. [Infantile haemangioma: When investigation is necessary and current therapeutic developments].

    PubMed

    Eschard, C

    2015-01-01

    Infantile haemangioma (IH) is the most frequent benign tumour seen in children. In most cases, diagnosis is made chiefly on clinical grounds, and because the condition tends to subside naturally within several years and without any major sequelae, therapeutic abstention is the rule. However, a number of additional investigations may be necessary: where the clinical picture is atypical or potentially confusing, where the condition may affect adjacent or remote structures, in screening for associated anomalies in certain syndromal forms which practitioners must be able to recognise. Such investigations facilitate therapeutic indications for forms of haemangioma likely to lead to complications. The most important recent therapeutic development has been the discovery of the spectacular efficacy of beta-blockers (propranolol) upon the development kinetics of infantile haemangioma, greatly transforming the prognosis for these haemangiomas at risk.

  15. Involuntary movements in infantile cobalamin deficiency appearing after treatment.

    PubMed

    Ozer, E A; Turker, M; Bakiler, A R; Yaprak, I; Ozturk, C

    2001-07-01

    Involuntary movements may be a symptom in most infants who present with neurologic syndrome of infantile cobalamin (vitamin B12) deficiency. In this report, two infants with cobalamin deficiency are presented. These patients also developed a striking movement disorder that appeared a few days after treatment with intramuscular cobalamin. The movement disorder was characterized by severe involuntary movements, which were a combination of tremor and myoclonus particularly involving tongue, face, pharynx, and legs. The neurologic symptoms improved within a few days after the administration of clonazepam. In each patient the mother was also cobalamin deficient and the infant was solely breast-fed. The cause of involuntary movements that can appear rarely after treatment in infantile cobalamin deficiency is not known. Besides initial neurologic presenting symptoms of cobalamin deficiency, the occurrence of involuntary movements after treatment should also receive attention. This movement disorder may disappear spontaneously, or an additional treatment may be an alternative approach if the symptoms are severe.

  16. [Infantile haemangioma: When investigation is necessary and current therapeutic developments].

    PubMed

    Eschard, C

    2015-01-01

    Infantile haemangioma (IH) is the most frequent benign tumour seen in children. In most cases, diagnosis is made chiefly on clinical grounds, and because the condition tends to subside naturally within several years and without any major sequelae, therapeutic abstention is the rule. However, a number of additional investigations may be necessary: where the clinical picture is atypical or potentially confusing, where the condition may affect adjacent or remote structures, in screening for associated anomalies in certain syndromal forms which practitioners must be able to recognise. Such investigations facilitate therapeutic indications for forms of haemangioma likely to lead to complications. The most important recent therapeutic development has been the discovery of the spectacular efficacy of beta-blockers (propranolol) upon the development kinetics of infantile haemangioma, greatly transforming the prognosis for these haemangiomas at risk. PMID:26209506

  17. Infantile myofibroma: a firm, round plaque in an infant.

    PubMed

    Amano, Shinya; Halsey, Mark; Yasuda, Mariko; O'Donnell, Patrick; Csikesz, Courtney

    2016-01-01

    Infantile myofibroma is a rare fibromatous tumor that is variable in presentation and is frequently mistaken for hemangioma or rhabdomyosarcoma. We describe a 14-month-old boy who presented with multiple, enlarging, firm lesions on the shoulder. Biopsy revealed a proliferation of small spindle cells with myxoid and hyalinized stroma infiltrating into the superficial adipose tissue. We provide a brief review of the clinical presentation, histopathologic features, management, and recent advances in our understanding of this rare condition. PMID:27617527

  18. Assessment of Infantile Mineral Imbalances in Autism Spectrum Disorders (ASDs)

    PubMed Central

    Yasuda, Hiroshi; Tsutsui, Toyoharu

    2013-01-01

    The interactions between genes and the environment are now regarded as the most probable explanation for autism. In this review, we summarize the results of a metallomics study in which scalp hair concentrations of 26 trace elements were examined for 1,967 autistic children (1,553 males and 414 females aged 0–15 years-old), and discuss recent advances in our understanding of epigenetic roles of infantile mineral imbalances in the pathogenesis of autism. In the 1,967 subjects, 584 (29.7%) and 347 (17.6%) were found deficient in zinc and magnesium, respectively, and the incidence rate of zinc deficiency was estimated at 43.5% in male and 52.5% in female infantile subjects aged 0–3 years-old. In contrast, 339 (17.2%), 168 (8.5%) and 94 (4.8%) individuals were found to suffer from high burdens of aluminum, cadmium and lead, respectively, and 2.8% or less from mercury and arsenic. High toxic metal burdens were more frequently observed in the infants aged 0–3 years-old, whose incidence rates were 20.6%, 12.1%, 7.5%, 3.2% and 2.3% for aluminum, cadmium, lead, arsenic and mercury, respectively. These findings suggest that infantile zinc- and magnesium-deficiency and/or toxic metal burdens may be critical and induce epigenetic alterations in the genes and genetic regulation mechanisms of neurodevelopment in the autistic children, and demonstrate that a time factor “infantile window” is also critical for neurodevelopment and probably for therapy. Thus, early metallomics analysis may lead to early screening/estimation and treatment/prevention for the autistic neurodevelopment disorders. PMID:24284360

  19. Desmoplastic non-infantile ganglioglioma. Case report.

    PubMed

    Marti, A; Almostarchid, B; Maher, M; Saidi, A

    2000-09-01

    Desmoplastic gangliogliomas are rare mixed glial and neuronal cerebral tumors, especially described in infants below 4 years of age but exceptional cases have been reported in young adults. These tumors are generally localised in parietal or temporal lobes, present as a large cystic lesion with peripheral contrast enhancement. They also have characteristic histological features: extensive desmoplasia and tumoral cells of variable size exhibiting immunohistochemical and ultrastructural features of glial and neuronal differentiation. Total surgical removal is sufficient for the treatment of these tumors and no radiotherapy or chemotherapy are indicated if complete resection is achieved. We report a case of desmoplastic ganglioglioma in a 19-year-old male. This tumor presented as a large parieto- temporal cystic lesion with rimmed contrast enhancement. At histological examination, this tumor exhibited extensive desmoplasia and comprised 2 types of tumoral cells: small cells with round nuclei, positive for NSE, neurofilaments and synaptophysin and sometimes presenting typical morphological features of neuronal differentiation, and large cells with abundant eosinophilic strongly staining for GFAP. This observation emphazises on the fact that desmoplastic ganglioglioma can no more be considered as a specific entity of infancy and must be well recognised even in young adults because it may be misdiagnosed as malignant glioma.

  20. [A Case of Infantile Cervical Ectopic Thymus].

    PubMed

    Umehara, Tsuyoshi; Hakamada, Katsura; Oshima, Goro; Suzuki, Katsuyoshi; Iwanaga, Ken; Yamaguchi, Yuki; Arai, Hiroyuki; Hikida, Yumiko; Kita, Junya; Hayashi, Yasuhiro

    2015-05-01

    We report herein on a case of ectopic cervical thymus in a 5-year-old boy and the literature is reviewed. Swelling of the right neck was seen in the patient in his newborn period and it was diagnosed as cystic disease of the neck in a previous hospital at 4 months of age. Ultrasonography (US) and MRI revealed a cervical tumor consisting of a solid component in our hospital, and histopathologic examination showed no evidence of malignancy. The lesion revealed almost no change in size but showed a mosaic pattern on US, whereon the parents agreed to the removal of the tumor. Intraoperatively, the tumor could be easily dissected from the surrounding tissue and resected. The pathological diagnosis was normal thymic tissue. The postoperative course was uneventful and no complication or immunological disorders were seen. A cervical ectopic thymus is a congenital lesion that results from abnormal thymic migration during embryogenesis. Most patients are asymptomatic and the condition is found incidentally. Preoperative diagnosis of cervical ectopic thymus in children is rarely made, so surgical treatment is the definitive means of pathological diagnosis. This disease should be listed in the differential diagnosis for neck masses in children, and should be suspected when the mosaic pattern is detected in the lesion on US.

  1. [Malignant Pleural Mesotheliomas].

    PubMed

    Biancosino, C; Redwan, B; Krüger, M; Eberlein, M; Bölükbas, S

    2016-09-01

    Malignant pleural mesotheliomas (MPM) are very aggressive tumors, which originate from the mesothelial cells of the pleural surface. The main risk factor associated with MPM is exposure to asbestos. The latency period between asbestos exposure and MPM can be 30-60 years. Clinical symptoms and signs are often nonspecifc. The diagnosis of MPM requires an adequate tissue specimen for pathological examination, and video assisted thoracoscopic surgey (VATS) is associated with the highest diagnostic yield. MPM are histologically classified into epitheloid, sacromatoid and biphasic (mixed) sub-types. Accurate staging with invasive tests, if needed, is an important step before an interdisciplinary team can decide on an optimal (multi-modal) treatment approach. A multi-modal treatment approach (surgery, radiation oncology and chemotherapy) is superior to all approaches relying only on a single modality, if the patient qualifies for it from an oncological and functional standpoint. The goal of the surgical therapy is to achieve macroscopic complete resection. There are two competing surgical approaches and philosophies: extrapleural pneumonectomy (EPP) and radical pleurectomy (RP). Over the last years a paradigm shift from EPP to RP occurred and RP is now often the preferred surgical option. PMID:27612329

  2. Liver transplantation for malignancies.

    PubMed

    Eghtesad, Bijan; Aucejo, Federico

    2014-09-01

    Liver transplantation (LT) has become an acceptable and effective treatment for selected patients with hepatocellular carcinoma with excellent outcomes. More recently, LT has been tried in different primary and secondary malignancies of the liver. The outcomes of LT for very selected group of patients with hilar cholangiocarcinoma (CCA) have been promising. Excellent results have been reported in LT for patients with unresectable hepatic epithelioid hemangioendothelioma (HEHE). In contrast to excellent results after LT for HEHE, results of LT for angiosarcoma have been disappointing with no long-term survivors. Hepatoblastoma (HB) is the most common primary liver cancer in pediatric age group. Long-term outcomes after LT in patients with unresectable tumor and good response to chemotherapy have been promising. Indication for LT for hepatic metastasis from neuroendocrine tumors (NETs) is mainly for patients with unresectable tumors and for palliation of medically uncontrollable symptoms. Posttransplant survival in those patients with low tumor activity index is excellent, despite recurrence of the tumor. More recent limited outcomes data on LT for unresectable hepatic metastases from colorectal cancer have claimed some survival benefit compared to the previous reports. However, due to the high rate of tumor recurrence in a very short time after LT, especially in the era of organ shortage, this indication has not been favored by the transplant community. PMID:24604263

  3. [Malignant mesothelioma and asbestos].

    PubMed

    Rüttner, J R

    1983-03-12

    Malignant mesothelioma is a rare neoplasm of rapidly lethal course arising primarily in the pleura and less often in the peritoneum. In the majority of cases the disease is closely related to occupational exposure to asbestos. The latency period, calculated from the first contact with asbestos to the appearance of mesothelioma, is generally in the order of 20 years or more irrespective of the duration of exposure. A causal relationship can be established with certainty only by a careful history and positive tissue analysis for the presence of asbestos. The author's own series of 48 pleural mesotheliomas comprises 39 cases involving occupational exposure to asbestos, 6 others with asbestos demonstrable in pulmonary tissue but no discernible source in the history, and 3 where no relation to asbestos could be established at all. Although a dose-response relation may be assumed for asbestos as for all other carcinogens, the lack of data on asbestos dust concentrations at former places of work rendered determination of the minimal noxious dose difficult or impossible. It also remains unclear whether the various asbestos types, such as chrysotile and amphiboles, differ in pathogenic effect. It is hoped that careful registration and continuing study of mesotheliomas will shed further light on their relationship to asbestos and on the possible hazards of the mineral to the general population.

  4. Infantile spasms are associated with abnormal copy number variations.

    PubMed

    Tiwari, Vijay N; Sundaram, Senthil K; Chugani, Harry T; Huq, A H M M

    2013-10-01

    The authors tested the hypothesis that de novo copy number variations (CNVs) implicated in known genomic disorders ("pathogenic CNVs") are significant predisposing factors of infantile spasms. The authors performed a genome-wide analysis of single-nucleotide polymorphism genotyping microarray data to identify the role of de novo/known pathogenic large CNVs in 13 trios of children affected by infantile spasms. A rare, large (4.8 Mb) de novo duplication was detected in the 15q11-13 region of 1 patient. In addition, 3 known pathogenic CNVs (present in the patient as well as 1 of the parents) were detected in total. In 1 patient, a known pathogenic deletion was detected in the region of 2q32.3. Similarly, in 1 other patient, 2 known pathogenic deletions in the regions of 16p11.2 and Xp22.13 (containing CDKL5) were detected. These findings suggest that some specific pathogenic CNVs predispose to infantile spasms and may be associated with different phenotypes. PMID:22914377

  5. Acupuncture in Practice: Investigating Acupuncturists' Approach to Treating Infantile Colic

    PubMed Central

    2013-01-01

    Infantile colic is common, but no safe and effective conventional treatment exists. The use of acupuncture has increased despite weak evidence. This practitioner survey explores and discusses how infantile colic is regarded and treated in Traditional Chinese Medicine (TCM). The study is based on personal communication with 24 acupuncturists from nine countries. These acupuncturists specialize in pediatric acupuncture and represent different styles of acupuncture. Their experiences are discussed and related to relevant books and articles. Informants claimed good results when treating infants with colic. The TCM patterns commonly described by informants matched the textbooks to a great extent. The most common syndromes were “stagnation of food” and “Spleen Qi Xu.” Regarding treatment, some informants followed the teachers' and the textbook authors' advice on differentiated treatment according to syndrome. The points used most often were LI4, ST36, and Sifeng. Other informants treated all infants alike in one single point, LI4. The results demonstrate the diversity of TCM. The use of acupuncture for infantile colic presents an interesting option, but further research is needed in order to optimize the effects and protect infants from unnecessary or less effective treatment. PMID:24324513

  6. Infantile acne: a retrospective study of 16 cases.

    PubMed

    Hello, Muriel; Prey, Sorilla; Léauté-Labrèze, Christine; Khammari, Amir; Dreno, Brigitte; Stalder, Jean-François; Barbarot, Sébastien

    2008-01-01

    Infantile acne is a rare and poorly understood disorder. The objective of this study was to improve our knowledge about the epidemiology and clinical course of infantile acne, and evaluate approaches to treatment. This two-center retrospective study covered the period between 1985 and 2007. Inclusion criteria were: (i) age less than 24 months when lesions appeared; (ii) presence of both inflammatory and noninflammatory lesions; (iii) persistence of lesions for at least 2 months. The data were drawn from clinical and photographic records, followed by administration of a telephone questionnaire to parents. It was proposed that each case be reviewed on the basis of the child's appearance and score on an acne scar clinical grading scale. Sixteen children were included. Nine had a family history of severe adolescent acne. The average duration of disease was 22 months. Two patients had been effectively treated with oral isotretinoin. More than half of the patients exhibited scars. We re-examined five children (average acne scar clinical grading scale score = 12/540). On the basis of the frequency of scarring, and the severity and average duration of lesions, the use of oral retinoids in severe infantile acne warrants evaluation.

  7. Infantile amnesia reconsidered: a cross-cultural analysis.

    PubMed

    Wang, Qi

    2003-01-01

    A number of theories have been offered over the past hundred years to explain the phenomenon of infantile amnesia, the common inability to remember autobiographical experiences from the first years of life. Recent comparative studies that examine autobiographical memories in different populations, particularly populations in North America and East Asia, have yielded intriguing findings that provide a unique opportunity to revisit some of the major theoretical views and to propose new accounts. In light of these findings, this article discusses five theoretical explanations for infantile amnesia, including cognitive and social discontinuity, the emergence of the self, early parent-child memory sharing, functions of autobiographical memory, and the complexity of life experience. The reconsideration of infantile amnesia from a cross-cultural perspective suggests that while the basic mechanisms and contributing factors may be universal, the specific ways in which these mechanisms and factors are manifested differ qualitatively across cultures. A theoretical approach that takes the larger cultural context into account can help us understand this long-standing puzzle. PMID:12653489

  8. Growth Hormone Induces Recurrence of Infantile Hemangiomas After Apparent Involution: Evidence of Growth Hormone Receptors in Infantile Hemangioma.

    PubMed

    Munabi, Naikhoba C O; Tan, Qian Kun; Garzon, Maria C; Behr, Gerald G; Shawber, Carrie J; Wu, June K

    2015-01-01

    Infantile hemangiomas (IHs) are the most common benign tumor of infancy, characterized by a natural history of early proliferation in the first months of life to eventual involution during childhood, often with residual fibrofatty tissue. Once involution has been achieved, IHs do not typically recur. We present two cases of exogenous growth hormone therapy resulting in the recurrence of IHs in late childhood, supported by radiological, immunohistochemical, in vitro, and in vivo evidence.

  9. Drugs Approved for Malignant Mesothelioma

    Cancer.gov

    This page lists cancer drugs approved by the Food and Drug Administration (FDA) for malignant mesothelioma. The list includes generic names and brand names. The drug names link to NCI's Cancer Drug Information summaries.

  10. Defective Autophagy Initiates Malignant Transformation.

    PubMed

    Galluzzi, Lorenzo; Bravo-San Pedro, José Manuel; Kroemer, Guido

    2016-05-19

    In this issue of Molecular Cell, Park et al. (2016) elegantly demonstrate that a partial defect in autophagy supports malignant transformation as it favors the production of genotoxic reactive oxygen species by mitochondria.

  11. Malignant external otitis: CT evaluation

    SciTech Connect

    Curtin, H.D.; Wolfe, P.; May, M.

    1982-11-01

    Malignant external otitis is an aggressive infection caused by Pseudomonas aeruginosa that most often occurs in elderly diabetics. Malignant external otitis often spreads inferiorly from the external canal to involve the subtemporal area and progresses medially towards the petrous apex leading to multiple cranial nerve palsies. The computed tomographic (CT) findings in malignant external otitis include obliteration of the normal fat planes in the subtemporal area as well as patchy destruction of the bony cortex of the mastoid. The point of exit of the various cranial nerves can be identified on CT scans, and the extent of the inflammatory mass correlates well with the clinical findings. Four cases of malignant external otitis are presented. In each case CT provided a good demonstration of involvement of the soft tissues at the base of the skull.

  12. AMG 319 Lymphoid Malignancy FIH

    ClinicalTrials.gov

    2016-01-20

    Cancer; Chronic Lymphocytic Leukemia; Diffuse Large Cell Lymphoma; Hematologic Malignancies; Hematology; Leukemia; Low Grade Lymphoma; Lymphoma; Mantle Cell Lymphoma; Non-Hodgkin's Lymphoma; Oncology; Oncology Patients; T Cell Lymphoma; Tumors

  13. Malignant pleural mesothelioma.

    PubMed

    Ho, L; Sugarbaker, D J; Skarin, A T

    2001-01-01

    Malignant pleural mesothelioma remains a difficult tumor to treat, much less cure. Currently, the best chance for long-term survival lies with early diagnosis and aggressive surgical extirpation, but given the typically long delay between the onset of symptoms and diagnosis, this is only possible with a high index of suspicion and an aggressive diagnosis workup. Early referral to a tertiary center experienced in the treatment of MPM may be important for several reasons: (1) decreased risk of tumor spread along multiple thoracenesis/biopsy tracts, (2) the availability of specialized pathologic assays for definitive diagnosis, (3) the availability of critical staging modalities (aggressive mediastinoscopy +/- thoracoscopy, MRI scans performed according to specific mesothelioma protocols, and perhaps PET scans), (4) surgical experience with pleurectomy/decortication and/or extrapleural pneumonectomy, that may decrease morbidity and mortality, and (5) the availability of novel adjuvant protocols. Single-modality therapy is unlikely to result in long-term survival. Aggressive surgery is required for optimal debulking, and extrapleural pneumonectomy may offer better local control compared with pleurectomy/ecortication. Delivery of optimal radiation schedules, which may involve large fractions as well as large total doses, is limited by the presence of nearby dose-limiting structures. Current chemotherapy is severely lacking in producing objective responses and improved survival although gemcitabine and IL-2 may be active agents to be combined with radiation and/or other agents. Hyperthermia, photodynamic therapy, intracavitary therapy, and gene therapy are all relatively new techniques under active investigation that should be supported by enrollment in on-going protocols. Predictably, many of these techniques provide greater benefit when used in the setting of adjuvant protocols or minimal residual disease, emphasizing the importance of multimodality therapy.

  14. Malignant hypertension: a preventable emergency.

    PubMed

    van der Merwe, Walter; van der Merwe, Veronica

    2013-08-16

    The Waitemata Hypertension Clinic Database 2009-2012 (Auckland, New Zealand) was searched for patients meeting the definition of Malignant Hypertension. Eighteen of 565 patients met the criteria. All patients had essential hypertension which was either undiagnosed, untreated or undertreated. Most cases responded satisfactorily to standard drug therapy, but a number were left with significant chronic kidney disease. Malignant hypertension is a life-threatening disease which should be entirely preventable with regular blood pressure checks in primary care.

  15. Telomerase Activation in Hematological Malignancies

    PubMed Central

    Ropio, Joana; Merlio, Jean-Philippe; Soares, Paula; Chevret, Edith

    2016-01-01

    Telomerase expression and telomere maintenance are critical for cell proliferation and survival, and they play important roles in development and cancer, including hematological malignancies. Transcriptional regulation of the rate-limiting subunit of human telomerase reverse transcriptase gen (hTERT) is a complex process, and unveiling the mechanisms behind its reactivation is an important step for the development of diagnostic and therapeutic applications. Here, we review the main mechanisms of telomerase activation and the associated hematologic malignancies. PMID:27618103

  16. Telomerase Activation in Hematological Malignancies.

    PubMed

    Ropio, Joana; Merlio, Jean-Philippe; Soares, Paula; Chevret, Edith

    2016-01-01

    Telomerase expression and telomere maintenance are critical for cell proliferation and survival, and they play important roles in development and cancer, including hematological malignancies. Transcriptional regulation of the rate-limiting subunit of human telomerase reverse transcriptase gen (hTERT) is a complex process, and unveiling the mechanisms behind its reactivation is an important step for the development of diagnostic and therapeutic applications. Here, we review the main mechanisms of telomerase activation and the associated hematologic malignancies. PMID:27618103

  17. Cryptococcus neoformans infection in malignancy.

    PubMed

    Schmalzle, Sarah A; Buchwald, Ulrike K; Gilliam, Bruce L; Riedel, David J

    2016-09-01

    Cryptococcosis is an opportunistic invasive fungal infection that is well described and easily recognised when it occurs as meningitis in HIV-infected persons. Malignancy and its treatment may also confer a higher risk of infection with Cryptococcus neoformans, but this association has not been as well described. A case of cryptococcosis in a cancer patient is presented, and all cases of coincident C. neoformans infection and malignancy in adults published in the literature in English between 1970 and 2014 are reviewed. Data from these cases were aggregated in order to describe the demographics, type of malignancy, site of infection, clinical manifestations, treatment and outcomes of cryptococcosis in patients with cancer. Haematologic malignancies accounted for 82% of cases, with lymphomas over-represented compared to US population data (66% vs. 53% respectively). Cryptococcosis was reported rarely in patients with solid tumours. Haematologic malignancy patients were more likely to have central nervous system (P < 0.001) or disseminated disease (P < 0.001), receive Amphotericin B as part of initial therapy (P = 0.023), and had higher reported mortality rates than those with solid tumours (P = 0.222). Providers should have heightened awareness of the possibility of cryptococcosis in patients with haematologic malignancy presenting with infection. PMID:26932366

  18. Extensive facial and orbital infantile hemangiomas associated with high intraocular pressure.

    PubMed

    Shatriah, Ismail; Norazizah, Mohd-Amin; Wan-Hitam, Wan-Hazabbah; Wong, Abd-Rahim; Yunus, Rohaizan; Leo, Seo-Wei

    2013-01-01

    High intraocular pressure is a rare ophthalmic condition associated with infantile hemangiomas that involves the orbit, eyelid, or both. Here, we describe a patient with extensive facial and orbital infantile hemangiomas associated with high intraocular pressure in the affected eye. The prompt management of this challenging condition is essential. PMID:22329437

  19. Basic and clinical aspects of malignant melanoma

    SciTech Connect

    Nathanson, L. )

    1987-01-01

    This book contains the following 10 chapters: The role of oncogenes in the pathogenesis of malignant melanoma; Laminin and fibronectin modulate the metastatic activity of melanoma cells; Structure, function and biosynthesis of ganglioside antigens associated with human tumors derived from the neuroectoderm; Epidemiology of ocular melanoma; Malignant melanoma: Prognostic factors; Endocrine influences on the natural history of human malignant melanoma; Psychosocial factors associated with prognostic indicators, progression, psychophysiology, and tumor-host response in cutaneous malignant melanoma; Central nervous system metastases in malignant melanoma; Interferon trials in the management of malignant melanoma and other neoplasms: an overview; and The treatment of malignant melanoma by fast neutrons.

  20. Bioenergetic theory of prostate malignancy.

    PubMed

    Costello, L C; Franklin, R B

    1994-09-01

    Normal and benign prostate hyperplasia (BPH) prostate is characterized by the presence of extraordinarily high levels of citrate. Presumably, this results from the inability of the prostate epithelial cells to oxidize citrate due to a limiting mitochondrial (m-) aconitase. In contrast, prostate carcinoma (CA) is not characterized by high citrate levels. Malignant prostate epithelial cells apparently undergo a metabolic transformation from citrate-producing to citrate-oxidizing cells. A consequence of citrate production in normal and BPH cells is an inefficient and low level of ATP production. It is proposed that the process of malignancy necessitates an energy production that cannot be provided by citrate-producing cells. Consequently, the transformation of prostate epithelial cells to citrate-oxidizing cells which increases the energy production capability is essential to the process of malignancy and metastasis. The metabolic transformation likely occurs as a premalignant or early malignant stage. This bioenergetic theory of prostate malignancy, if correct, will provide new approaches to the diagnosis and treatment of CA. PMID:7520580

  1. [Thoracoscopy in malignant pleural effusions].

    PubMed

    Zhang, D; Chen, Y; Tu, C

    1996-03-01

    To assess the value of thoracoscopy in malignant pleural effusions, the procedure and results of thoracoscopy by using a fiberoptic bronchoscope and a rigid cold-light thoracoscope in 130 cases with malignant pleural effusion are reported. The overall diagnostic rate was 91.5% (119/130). The malignant pleural mesothelioma in 24 cases and metastatic cancers in 95 cases were histopathologically confirmed. Talcum powder, tetracycline and Corynebacterium parvum were separately sprayed through thoracoscope into pleural cavity in 69, 10 and 10 patients, and the success rates of complete and lasting pleurodesis were 87.0%, 5/10 and 8/10 respectively. Postoperative complications included transient fever and chest pain, local subcutaneous emphysema in 6 cases and tumor seeding at thoracoscopy site in 4 cases. It is concluded that thoracoscopy is simple, safe, reliable and of high practical value in the diagnosis of malignant pleural effusions and in assessment before exploratory thoracotomy, and that transendoscopical administration of drugs for pleurodesis is a very effective method for controlling malignant pleural effusions. The efficacy of the talc poudrage is better than tetracycline and Corynebacterium parvum. PMID:9206045

  2. Spectrum of Infantile Esotropia in Primates: Behavior, Brains and Orbits

    PubMed Central

    Tychsen, Lawrence; Richards, Michael; Wong, Agnes; Foeller, Paul; Burhkalter, Andreas; Narasimhan, Anita; Demer, Joseph

    2009-01-01

    Introduction Recent studies of human infants have described a spectrum of early-onset esotropia, from small-variable-angle to large heterotropias.1 We report here a similar spectrum of early-onset esotropia in infant monkeys, with emphasis on the relationship between visuomotor deficits, central nervous system (CNS) circuitry and orbital anatomy. Methods Eye movements were recorded in macaque monkeys with natural, infantile-onset esotropia (n=7) and in control monkeys (n=2) to assess alignment, latent nystagmus, dissociated vertical deviation (DVD), and pursuit/optokinetic nystagmus (OKN) asymmetries. Acuity was measured by preferential-looking technique or spatial sweep VEP (SSVEP). Geniculo-striate pathways were then analyzed with neuroanatomic tracers and metabolic labels. Extraocular muscles were examined by high-resolution magnetic resonance imaging (MRI) and anatomic sectioning of whole orbits. Results Esotropia ranged from 4-13.5° (7-24 prism diopters [PD]) with fixation preference (if any) varying idiosyncratically (as in human). Severity of ocular motor dysfunction (i.e. nystagmus velocity, DVD amplitude, pursuit-OKN nasal bias index), increased as the magnitude of esotropia angle. Animals with greater ocular motor deficits tended to have greater visual area V1 (striate cortex) neuroanatomic deficits, evident as fewer binocular horizontal connections in V1. Orbital MRI/anatomic analysis showed no difference in horizontal rectus cross sectional areas, muscle paths, innervation densities or cytoarchitecture compared to normal animals. Conclusion The infantile esotropia spectrum in non-human primates is remarkably similar to that reported in human infants. Concomitant esotropia in these primates cannot be ascribed to abnormalities of the extraocular muscles or orbit. These findings, combined with epidemiologic studies of human, suggest that perturbations of CNS binocular pathways in early development are the primary cause of the infantile esotropia syndrome

  3. Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

    PubMed Central

    Rockman-Greenberg, Cheryl; Ozono, Keiichi; Riese, Richard; Moseley, Scott; Melian, Agustin; Thompson, David D.; Bishop, Nicholas; Hofmann, Christine

    2016-01-01

    Context: Hypophosphatasia (HPP) is an inborn error of metabolism that, in its most severe perinatal and infantile forms, results in 50–100% mortality, typically from respiratory complications. Objectives: Our objective was to better understand the effect of treatment with asfotase alfa, a first-in-class enzyme replacement therapy, on mortality in neonates and infants with severe HPP. Design/Setting: Data from patients with the perinatal and infantile forms of HPP in two ongoing, multicenter, multinational, open-label, phase 2 interventional studies of asfotase alfa treatment were compared with data from similar patients from a retrospective natural history study. Patients: Thirty-seven treated patients (median treatment duration, 2.7 years) and 48 historical controls of similar chronological age and HPP characteristics. Interventions: Treated patients received asfotase alfa as sc injections either 1 mg/kg six times per week or 2 mg/kg thrice weekly. Main Outcome Measures: Survival, skeletal health quantified radiographically on treatment, and ventilatory status were the main outcome measures for this study. Results: Asfotase alfa was associated with improved survival in treated patients vs historical controls: 95% vs 42% at age 1 year and 84% vs 27% at age 5 years, respectively (P < .0001, Kaplan-Meier log-rank test). Whereas 5% (1/20) of the historical controls who required ventilatory assistance survived, 76% (16/21) of the ventilated and treated patients survived, among whom 75% (12/16) were weaned from ventilatory support. This better respiratory outcome accompanied radiographic improvements in skeletal mineralization and health. Conclusions: Asfotase alfa mineralizes the HPP skeleton, including the ribs, and improves respiratory function and survival in life-threatening perinatal and infantile HPP. PMID:26529632

  4. [Clinical guidelines for infantile-onset Pompe disease].

    PubMed

    Pascual-Pascual, S I; Nascimento, A; Fernandez-Llamazares, C M; Medrano-Lopez, C; Villalobos-Pinto, E; Martinez-Moreno, M; Ley, M; Manrique-Rodriguez, S; Blasco-Alonso, J

    2016-09-16

    Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.

  5. A rare case of infantile myofibromatosis and review of literature.

    PubMed

    Hausbrandt, Peter A; Leithner, Andreas; Beham, Alfred; Bodo, Koppany; Raith, Johannes; Windhager, Reinhard

    2010-01-01

    Infantile myofibromatosis is a rare benign tumor-disease (1/400,000). Four different types have been reported in literature. The most commonly affected body areas are the head, the neck, and the trunk. We would like to present a rare case of a multicentric type with singular visceral involvement and a literature review of all case series with more than five patients. A 9-month-old boy presented with a swelling on the medial side of his proximal left tibia. The lesion which was present since birth, was well palpable, indolent, hard, and mobile in relation to the surrounding tissue. Radiographic films and ultrasound examination presented a pretibial soft-tissue tumor mass with calcifications and two osteolytic lesions with a sclerotic rim. A skeletal survey showed more osteolytic lesions, but the magnetic resonance imaging showed no more soft-tissue lesions. The rapid frozen section biopsy hinted at the diagnosis of histiocytosis X. The definitive histological result 6 days later was infantile myofibromatosis. As therapy, we determined a wait-and-see policy with controls all 3 months. At 20 months follow-up, the boy showed beginning of regression of all lesions. Infantile myofibromatosis is a very rare benign tumor-disease. Radiologically often soft-tissue masses with calcifications and osteolytic lesions with sclerotic rims are described. These findings also can be interpreted as histiocytosis X, which is a potential differential diagnosis. Histopathologically, cells characteristically appear as spindle-shaped fibroblast cells with pale pink cytoplasm and elongated nuclei and the immunophenotype is defined with a positive reaction on smooth-muscle antigen vimentin and the muscle-specific antigen HHF-35. The data of the literature review underline that a wait-and-see-policy should be considered as the first treatment of choice as in most instances the bony lesions regress spontaneously. However, a thorough examination has to be carried out to exclude lesion in other

  6. Clinical Characteristics and Treatment Options of Infantile Vascular Anomalies

    PubMed Central

    Yang, Bin; Li, Li; Zhang, Li-xin; Sun, Yu-juan; Ma, Lin

    2015-01-01

    Abstract To analyze the clinical characteristics and treatment outcomes of vascular anomalies, and determine which therapy is safe and effective. The data of vascular anomalies pediatric patients who arrived at Beijing children's Hospital from January 2001 to December 2014 were analyzed retrospectively, including the influence of gender, age, clinical manifestation, diagnosis, treatment options, and outcomes. As to infantile hemangiomas, the outcomes of different treatments and their adverse reactions were compared. As to spider angioma and cutaneous capillary malformation, the treatment effect of 595 nm pulsed dye laser (PDL) is analyzed. A total number of 6459 cases of vascular anomalies were reclassified according to the 2014 ISSVA classification system. Among them, the gender ratio is 1:1.69, head-and-neck involved is 53.3%, the onset age within the first month is 72.4%, the age of initial encounter that younger than 6 months is 60.1%. The most common anomalies were infantile hemangiomas (42.6%), congenital hemangiomas (14.1%), and capillary malformations (29.9%). In treating infantile hemangiomas, laser shows the lowest adverse reactions rate significantly. Propranolol shows a higher improvement rate than laser, glucocorticoids, glucocorticoids plus laser, and shows no significant difference with propranolol plus laser both in improvement rate and adverse reactions rate. The total improvement rate of 595 nm PDL is 89.8% in treating spider angioma and 46.7% in treating cutaneous capillary malformation. The improvement rate and excellent rate of laser in treating cutaneous capillary malformation are growing synchronously by increasing the treatment times, and shows no significant difference among different parts of lesion that located in a body. Vascular anomalies possess a female predominance, and are mostly occurred in faces. Definite diagnosis is very important before treatment. In treating infantile hemangioma, propranolol is recommended as the first

  7. Symmetrical infantile thalamic degeneration with focal cytoplasmic calcification.

    PubMed

    Ambler, M; O'Neil, W

    1975-10-27

    Infantile thalamic degeneration is a rare clinico-pathological entity. Restricted location of the lesion and peculiar cytopathological changes serve to distinguish this disorder from other common encephalopathies. Optical and ultrastructural studies demonstrate cytoplasmic calcopherules in previously viable cells. According to current concepts of acute cellular reactions to injury and mechanism of intracellular calcification, the cytological changes cannot be attributed to either hypoxic ischemic cell change or dystrophic calcification. By analogy to other human and pathological material, the most likely basis for nondystrophic calcopherule formation is toxic or infectious injury with local synthesis, or autophagic or phagolysosomal degradation of cellular debris of specific chemical composition favoring calcium deposition.

  8. [Clinical guidelines for infantile-onset Pompe disease].

    PubMed

    Pascual-Pascual, S I; Nascimento, A; Fernandez-Llamazares, C M; Medrano-Lopez, C; Villalobos-Pinto, E; Martinez-Moreno, M; Ley, M; Manrique-Rodriguez, S; Blasco-Alonso, J

    2016-09-16

    Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known. PMID:27600742

  9. Review of topical beta blockers as treatment for infantile hemangiomas.

    PubMed

    Painter, Sally L; Hildebrand, Göran Darius

    2016-01-01

    The treatment of infantile hemangiomas changed from the use of oral corticosteroids to oral propranolol on the serendipitous discovery of propanolol's clinical effectiveness in 2008. Since then, clinicians have begun to use topical beta blockers--in particular, timolol maleate 0.5% gel forming solution--with good effect. Topical beta blockers are now used for lesions with both deep and superficial components and those that are amblyogenic. When initiated in the proliferative phase of the lesion, the effectiveness of the treatment can be seen within days. There is no consensus on dosing, treatment bioavailability, or clinical assessment of lesions, but these are topics for future research.

  10. Infantile refsum disease: gastrointestinal presentation of a peroxisomal disorder.

    PubMed

    Mandel, H; Meiron, D; Schutgens, R B; Wanders, R J; Berant, M

    1992-01-01

    This article describes two siblings with infantile Refsum disease (IRD) whose initial presentation was that of malabsorption and mimicked a-beta- or homozygous hypo-beta-lipoproteinemia. Failure to recognize IRD in the first-born child precluded proper genetic counseling and prenatal diagnosis in subsequent pregnancies and also caused considerable delay in diagnosing IRD in the second child. The clinical heterogeneity of peroxisomal disorders constitutes a diagnostic challenge, which demands a high degree of awareness from the part of the clinician. This is particularly the case with IRD, where protracted diarrhea with low serum cholesterol levels appears to be a frequently occurring initial feature during the 1st months of life.

  11. [Motor-coordination disorders in patients with infantile cerebral palsy].

    PubMed

    Aslanov, A M; Avakian, G N; Bulaeva, N V; Kovaleva, N I

    1984-01-01

    A clinico-electrophysiological study of motor-coordinatory impairments was carried out in 117 patients with infantile cerebral paralysis. The results obtained suggest a possibility of a slow rate of myelinization, inadequate development of the coordinatory systems due to early damage to the brain associated with the systemic localization of the defect, and the obligatory involvement of extrapyramidal impairments in the realization of pathological dyskinesias. The clinical and electrophysiological examination made it possible to sum up all clinical manifestations of the pathology under a heading "discoordinatory extrapyramidal dyskinesias". PMID:6506951

  12. Infantile Systemic Hyalinosis: Report of 17-year Experience

    PubMed Central

    Raeeskarami, Seyed Reza; Aghighi, Yahya; Afshin, Azadeh; Malek, Abdolreza; Zamani, Ali; Ziaee, Vahid

    2014-01-01

    Background: Infantile Systemic Hyalinosis (ISH) is a very rare autosomal recessive disorder characterized by connective tissue involvement as hyaline deposition in skin, gastrointestinal tract, muscles, glands and other organs. Cases Presentation: We report eight Iranian children (4 male and 4 female) with ISH referred to our hospital from 1996 to 2013. The illness had been diagnosed by clinical manifestations and disease progression. Six of them died and two are alive but very sick. Conclusion: ISH is a very rare disorder with poor prognosis. Seventy five percent of our 8 patients died before 2 years old due to severe diarrhea, malabsorption and/or infection. PMID:26019786

  13. Infantile hydrocephalus: a review of epidemiology, classification and causes.

    PubMed

    Tully, Hannah M; Dobyns, William B

    2014-08-01

    Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research. PMID:24932902

  14. Infantile hydrocephalus: a review of epidemiology, classification and causes.

    PubMed

    Tully, Hannah M; Dobyns, William B

    2014-08-01

    Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research.

  15. Eruption hematoma as a possible oral sign of infantile scurvy.

    PubMed

    Adewumi, Abi O; Ashoor, Isa F; Soares, Flavio M; Guelmann, Marcio; Novak, Donald A

    2010-01-01

    Scurvy, vitamin C deficiency, is uncommon in industrialized societies today. Although supplementation of food with vitamin C has diminished its incidence, scurvy continues to occur in specific economically and nutritionally disadvantaged populations. The purpose of this report was to describe the case of infantile scurvy in a 20-month-old male with multisystem involvement including significant oral manifestations. Following an extensive initial evaluation, the multidisciplinary approach to diagnosis and management is discussed. This case demonstrates the need for heightened awareness of severe and multiplefood allergies in children and highlights disease conditions caused by nutritional deficiencies in this population.

  16. Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiency.

    PubMed

    Chaabene-Masmoudi, A; Mesrati, F; Zittoun, J; Landrieu, P

    2009-12-01

    5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency was diagnosed in a 1-month-old baby with signs of cerebral distress. Under a classic treatment using methionine supplementation, methyl donor (betaine) folinic acid, vitamin B(6) and vitamin B(12), the neuromotor development was satisfactory. At 15 years of age, however, despite no clear modification of the biochemical markers in body fluids, she developed a clinically overt peripheral axonal neuropathy. Only partial clinical improvement was obtained after reinforcement of betaine doses. Surveillance of the peripheral nerve is indicated in MTHFR deficiency, including in the infantile form with a good therapeutic compliance.

  17. Distant metastatic spread of molecularly proven infantile fibrosarcoma of the chest in a 2-month-old girl: case report and review of literature.

    PubMed

    van Grotel, Martine; Blanco, Esther; Sebire, Neil J; Slater, Olga; Chowdhury, Tanzina; Anderson, John

    2014-04-01

    Infantile fibrosarcoma (IFS) is a malignant neoplasm, arising in children younger than 2 years of age and with a hallmark chromosomal translocation t(12;15)(p13;q26) encoding an ETV6-NTRK3 fusion oncoprotein. A review of the world literature found no reported cases of molecularly proven IFS with distant metastatic spread at presentation. We report the case of a 2-month-old infant girl presenting with a chest wall primary IFS bearing and expressing the ETV6-NTRK3 fusion, who had several pulmonary metastatic deposits at diagnosis. She achieved complete remission with chemotherapy and surgery. To our knowledge, this is the first reported case of molecularly proven IFS with distant metastatic spread.

  18. Gastrointestinal malignancy and the microbiome.

    PubMed

    Abreu, Maria T; Peek, Richard M

    2014-05-01

    Microbial species participate in the genesis of a substantial number of malignancies-in conservative estimates, at least 15% of all cancer cases are attributable to infectious agents. Little is known about the contribution of the gastrointestinal microbiome to the development of malignancies. Resident microbes can promote carcinogenesis by inducing inflammation, increasing cell proliferation, altering stem cell dynamics, and producing metabolites such as butyrate, which affect DNA integrity and immune regulation. Studies in human beings and rodent models of cancer have identified effector species and relationships among members of the microbial community in the stomach and colon that increase the risk for malignancy. Strategies to manipulate the microbiome, or the immune response to such bacteria, could be developed to prevent or treat certain gastrointestinal cancers. PMID:24406471

  19. Lenvatinib and Capecitabine in Patients With Advanced Malignancies

    ClinicalTrials.gov

    2016-09-23

    Advanced Cancer; Malignant Neoplasm of Breast; Malignant Neoplasms of Bone and Articular Cartilage; Malignant Neoplasms of Digestive Organs; Malignant Neoplasms of Eye Brain and Other Parts of Central Nervous System; Malignant Neoplasms of Female Genital Organs; Malignant Neoplasms of Ill-defined Secondary and Unspecified Sites; Malignant Neoplasms of Independent (Primary) Multiple Sites; Malignant Neoplasms of Lip Oral Cavity and Pharynx; Malignant Neoplasms of Male Genital Organs; Malignant Neoplasms of Mesothelial and Soft Tissue; Malignant Neoplasms of Respiratory and Intrathoracic Organs; Malignant Neoplasms of Thyroid and Other Endocrine Glands; Malignant Neoplasms of Urinary Tract

  20. Malignant hemangiopericytoma of pituitary fossa.

    PubMed

    Das, Prasenjit; Haresh, Kunhi P; Suri, Vaishali; Sharma, Mehar Chand; Sharma, Bhawani Shankar; Sarkar, Chitra

    2010-01-01

    Intracranial hemangiopericytomas are rare tumors with aggressive behavior. Other than the meninges, this lesion has rarely been reported in periventricular and sellar region. We report a case of malignant hemangiopericytoma in sellar region in a 47-year-old male who presented with history of sudden onset of bilateral visual disturbances. To best of our knowledge, this is the second case report of malignant hemangiopericytoma in this location. As this intracranial lesion shows aggressive behavior, in the form of recurrence or extracranial metastasis in comparison to its extracranial counterparts, diagnosis should be made cautiously. PMID:20090235

  1. Second Malignant Neoplasms Following Radiotherapy

    PubMed Central

    Kumar, Sanath

    2012-01-01

    More than half of all cancer patients receive radiotherapy as a part of their treatment. With the increasing number of long-term cancer survivors, there is a growing concern about the risk of radiation induced second malignant neoplasm [SMN]. This risk appears to be highest for survivors of childhood cancers. The exact mechanism and dose-response relationship for radiation induced malignancy is not well understood, however, there have been growing efforts to develop strategies for the prevention and mitigation of radiation induced cancers. This review article focuses on the incidence, etiology, and risk factors for SMN in various organs after radiotherapy. PMID:23249860

  2. Stenting in Malignant Biliary Obstruction.

    PubMed

    Almadi, Majid A; Barkun, Jeffrey S; Barkun, Alan N

    2015-10-01

    Decompression of the biliary system in patients with malignant biliary obstruction has been widely accepted and implemented as part of the care. Despite a wealth of literature, there remains a significant amount of uncertainty as to which approach would be most appropriate in different clinical settings. This review covers stenting of the biliary system in cases of resectable or palliative malignant biliary obstruction, potential candidates for biliary drainage, technical aspects of the procedure, as well as management of biliary stent dysfunction. Furthermore, periprocedural considerations including proper mapping of the location of obstruction and the use of antibiotics are addressed.

  3. Malignant Hypertension with Thrombotic Microangiopathy.

    PubMed

    Mitaka, Hayato; Yamada, Yuji; Hamada, Osamu; Kosaka, Shintaro; Fujiwara, Naoki; Miyakawa, Yoshitaka

    2016-01-01

    A 49-year-old man with malignant hypertension, acute kidney injury and mental deterioration was referred to our hospital. We initially observed microangiopathic hemolytic anemia, thrombocytopenia and kidney damage, indicating he had thrombotic microangiopathy (TMA). We considered TMA was caused by malignant hypertension and therefore did not start plasma therapy. The French TMA reference center reported that platelet counts and serum creatine levels have high values for predicting severe ADAMTS13 deficiency. The patient fully recovered from his illness after treatment with antihypertensive drugs and intermittent hemodialysis. This case might thus be useful to understand the proper differential diagnosis and treatment of TMA. PMID:27523008

  4. [Blood test for malignant lymphoma].

    PubMed

    Kobayashi, Tsutomu; Kuroda, Junya; Taniwaki, Masafumi

    2014-03-01

    Malignant lymphoma is a neoplastic disease that develops in the lymph system, which consists of various different subtypes. In addition, the differential diagnosis of malignant lymphoma includes infections, autoimmune diseases, allergic diseases, endocrine disorders, and so on. Therefore accurate diagnosis is very important to decide therapeutic strategy. Blood test is the most common examination in clinical practice and used extensively for evaluating etiology, pathology, disease state, efficacy of treatment and disease prognosis of lymphoma. We are required to understand the characteristics of blood examinations correctly and use them appropriately in daily medical practice. Here, we introduce some blood examinations used for treatment of lymphoma.

  5. Malignant tumours of the duodenum.

    PubMed

    Ryska, M; Hrabal, P

    2015-12-01

    No comprehensive knowledge of duodenal tumours exists in the current literature; individual types of malignant tumours may be described within malignancies of the small bowel, sets of case reports, or individual cases. Ampullary carcinomas are the exception and they are detailed in the current WHO histological classification of tumours of digestive system. Neither national nor international literature sources provide a comprehensive review of their therapy. The situation is similar when searching for surgical procedures. Resection procedures on the duodenum should thus be performed in specialized centres with sufficient experience with hepato-pancreato-biliary surgery. PMID:26767899

  6. Primary malignancy, secondary malignancy and semimalignancy of bone tumors.

    PubMed

    Uehlinger, E

    1976-01-01

    1. Bone tumors in contrast to tumors in soft tissue, show a wide variety of clinical behavior qualified by the expressions semimalignancy, low grade of malignancy, sarcomatous degeneration and primarily benign bone tumors and bone lesions. 2. The term semimalignancy is characterized by local invasive and destructive tumor growth with a tendency to recur locally but no hematogeneous spreading. Semimalignancy requires wide en-bloc resection of amputation. 3. The term low grade malignancy is used to describe a tumor of very slow growth and with very late metastasis. Low-grade malignancy requires resection with careful preservation of functional structures. 4. The term secondary malignancy means the sarcomatous degeneration of a primarily benign lesion or bone tumor. This transformation is enhanced by irradiation and probably by acceleration of the normal turnover of bone tissue. In Paget's disease sarcomatous degeneration is to be expected in 2 percent of cases and in fibrous dysplasia in 0.5 percent of cases. 5. Sarcomatous degeneration of bone infarcts is rare, but an increase is to be expected due to an increased frequency of bone infarcts caused by long-term treatment with cortisone. 6. Primary bone tumors and recurrences show the same structure and cytology. In a minority of cases the recurrences are less differentiated; in a very few cases the recurrences are more highly differentiated and have a better prognosis than the initial lesion. PMID:1070716

  7. Early vs. late refeeding in acute infantile diarrhea.

    PubMed

    Gazala, E; Weitzman, S; Weizman, Z; Gross, J; Bearman, J E; Gorodischer, R

    1988-03-01

    A randomized ambulatory trial was performed to compare early (6-h) vs. late (24-h) refeeding in acute infantile diarrhea. Ninety infants with mild dehydration were enrolled in the study. Following an initial oral rehydration period (WHO formula), refeeding was introduced using a diet based on either breast milk or cow's milk. Early (n = 53) and late (n = 37) refeeding groups were similar in ethnic background, socioeconomic level, relevant past history, nutritional and clinical state, and stool pathogens. Infants were assessed upon their initial visit, at 24 and 48 h, and at 7 and 14 days thereafter for evaluation of weight, hydration state, stool frequency and need of hospitalization. No significant differences in the above parameters were observed between the two groups. Different patterns of refeeding (breast milk vs. cow's milk) in both early and late refeeding groups showed no significant differences in the features studied. Since the short-term clinical outcome following early refeeding in acute infantile diarrhea is not different from late refeeding, we suggest that early refeeding should be preferred, particularly in developing populations, in order to minimize the adverse nutritional effects of prolonged fasting during recurrent bouts of gastroenteritis. PMID:3286579

  8. Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe?

    PubMed

    Shyng, Charles; Sands, Mark S

    2014-10-01

    Infantile neuronal ceroid lipofuscinosis (INCL; infantile Batten disease) is an inherited paediatric neurodegenerative disease. INCL is caused by a deficiency in the lysosomal enzyme palmitoyl-protein thioesterase-1 (PPT1) and is thus classified as a lysosomal storage disease. Pathological examination of both human and murine INCL brains reveals progressive, widespread neuroinflammation. In fact, astrocyte activation appears to be the first histological sign of disease. However, the role of astrocytosis in INCL was poorly understood. The hallmark of astrocyte activation is the up-regulation of intermediate filaments, such as glial fibrillary acidic protein (GFAP) and vimentin. The role of astrocytosis in INCL was studied in a murine model lacking PPT1 and the intermediate filaments GFAP and vimentin (triple-knockout). This murine model of INCL with attenuated astrocytosis had an exacerbated pathological and clinical phenotype. The triple-knockout mouse had a significantly shortened lifespan, and accelerated cellular and humoural neuroinflammatory response compared with the parental PPT1(-/-) mouse. The data obtained from the triple-knockout mouse strongly suggest that astrocyte activation plays a beneficial role in early INCL disease progression. A more thorough understanding of the glial responses to lysosomal enzyme deficiencies and the accumulation of undergraded substrates will be crucial to developing effective therapeutics.

  9. Infantile fibrosarcoma of ethmoid sinus, misdiagnosed as an adenoid in a 5-year-old child.

    PubMed

    Geramizadeh, Bita; Khademi, Bijan; Karimi, Mehran; Shekarkhar, Golsa

    2015-01-01

    Infantile fibrosarcoma of head and neck is rare and the presence of this tumor in ethmoid sinus is even more uncommon. To the best of our knowledge, <5 cases have been reported in the last 20 years in the English literature, so far, only one of which has been infantile type in a 15 months old girl. In this case report, we will explain our experience with a rare case of infantile fibrosarcoma originating from ethmoid sinus in a 5-year-old boy who presented with dyspnea and epistaxis. After biopsy, it was diagnosed as fibrosarcoma of sinus origin. PMID:26604519

  10. Malignant transformation of uterine leiomyoma

    PubMed Central

    Al Ansari, Afaf A.; Al Hail, Fatima A.; Abboud, Emad

    2012-01-01

    A rare case of malignant transformation of uterine leiomyoma is reported. A 54 year old lady, nulliparous and 2 years postmenopausal presented to gynecology clinic with a pelvi – abdominal mass and ultrasound scan suggestive of multiple uterine fibroid. Total abdominal hysterectomy performed. Histopathology report showed leiomyosarcomative changes from benign leiomyoma within the huge mass. PMID:25003044

  11. Retroperitoneal malignant cyst. Case report.

    PubMed

    Melén, K; Sandermann, J; Stubberöd, A; Boiesen, P

    1991-10-01

    Forty years after removal of a benign mucinous cyst from the left retroperitoneal space, a malignant cyst with both sarcomatous and carcinomatous components was removed from the same site in a 75-year-old woman. Within 6 months the lesion recurred as a carcinoma penetrating the left colon and the abdominal wall.

  12. The Origin of Malignant Malaria

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Plasmodium falciparum is the causative agent of malignant malaria, which is among the most severe human infectious diseases. Despite its overwhelming significance to human health, the parasite’s origins remain unclear. The favored origin hypothesis holds that P. falciparum and its closest known rel...

  13. Malignant histiocytosis in a cat.

    PubMed

    Court, E A; Earnest-Koons, K A; Barr, S C; Gould, W J

    1993-11-01

    A 13-year-old male domestic shorthair cat was found to have normocytic hypochromic regenerative anemia, lymphopenia, eosinopenia, thrombocytopenia, hyperglycemia, hyperbilirubinemia, and a prolonged activated partial thromboplastin time. Transfusions of packed RBC failed to maintain the PCV above 13% for > 8 hours. The cat was euthanatized. At necropsy, the spleen liver, lymph nodes, and bone marrow were infiltrated with malignant histiocytes undergoing erythrophagocytosis.

  14. [Malignant pleomorphic adenoma of the palate].

    PubMed

    Martín Vázquez, C; Muñoz Colado, M; Lorente Tortosa, J M; Abad Róyo, J M; Alvarez Montero, O L

    1998-03-01

    Pleomorphic adenoma or mixed tumor is the most common benign neoplasm of the minor salivary glands. These tumors rarely have malignant features. Three varieties are differentiated by histological features and tumor behavior. Whether malignant tumors develop on benign adenomas or are malignant from onset is still not known. A malignant mixed tumor of the minor salivary glands of the palate is reported. The difficulty of histological diagnosis, in spite of immunohistochemical techniques, is emphasized and the surgical treatment is described.

  15. Protein Ubiquitination in Lymphoid Malignancies

    PubMed Central

    Yang, Yibin; Staudt, Louis M.

    2014-01-01

    Summary Human lymphoid malignancies inherit gene expression networks from their normal B-cell counterpart and co-opt them for their own oncogenic purpose, which is usually governed by transcriptional factors and signaling pathways. These transcriptional factors and signaling pathways are precisely regulated at multiple steps, including ubiquitin modification. With a function involved in almost all cellular events, protein ubiquitination plays a role in many human diseases. In the past few years, multiple studies have expanded the role of ubiquitination in the genesis of diverse lymphoid malignancies. Here we discuss our current understanding of both proteolytic and nonproteolytic functions of the protein ubiquitination system and describe how it is involved in the pathogenesis of human lymphoid cancers. Lymphoid-restricted ubiquitination mechanisms, including ubiquitin E3 ligases and deubiquitinating enzymes, provide great opportunities for the development of targeted therapies for lymphoid cancers. PMID:25510281

  16. Recurrence of neuroleptic malignant syndrome.

    PubMed

    González-Blanco, Leticia; García-Prada, Hilario; Santamarina, Susana; Jiménez-Treviño, Luis; Bobes, Julio

    2013-01-01

    Neuroleptic malignant syndrome (NMS) is a rare idiosyncratic reaction associated with the use of neuroleptics that has an incidence of 0.02 to 3% among patients taking these drugs. This is a very serious complication with a mortality rate that reaches 10-20%. It is therefore very important to have high clinical suspicion and use appropriate criteria to objectify this clinical picture early, stopping the medication causing the picture and to avoid the subsequent complications as much as possible that would be responsible for both its mortality and sequels. We present that case of an 81-year old woman who was admitted to the Psychiatric Hospitalization Unit (PHU) for a depressive episode with psychotic symptoms who developed a neuroleptic malignant syndrome (NMS) when Haloperidol was introduced. After its suspension and subsequent clinical recovery, antipsychotic treatment with Risperidone was reintroduced and she suffered a recurrence of NMS. Finally, significant improvement was achieved with several sessions of electroshock therapy (EST).

  17. Malignant schwannoma of kidney capsule.

    PubMed

    Romics, I; Bach, D; Beutler, W

    1992-11-01

    This report is of a malignant schwannoma originating in the capsule of the right kidney. Using sonography, nephroangiography, cavography, computer tomography, and bone scanning, metastases in the kidney or a retroperitoneal tumor could be diagnosed. After transperitoneal exploration, the right kidney and mesenteric metastases were removed. Due to tumor infiltration into the liver and tumor masses in the retroperitoneum, only nephrectomy and palliative excision of retroperitoneal metastases were done. Pulmonary metastases developed postoperatively, and the patient died three months after the operation.

  18. Endobronchial metastases from extrathoracic malignancies.

    PubMed

    Akoglu, Sebahat; Uçan, Eyüp S; Celik, Gülperi; Sener, Gülper; Sevinç, Can; Kilinç, Oğuz; Itil, Oya

    2005-01-01

    Endobronchial metastases (EBM) from extrapulmonary malignant tumors are rare. The most common extrathoracic malignancies associated with EBM are breast, renal and colorectal carcinomas. In this study, we aimed to evaluate the clinical, radiographic and bronchoscopic aspects of patients with EBM who were diagnosed between 1992 and 2002. Data about patients' clinical conditions, symptoms, radiographic and endoscopic findings, and histopathological examination results were investigated. EBM was defined as bronchoscopically visible lesions histopathologically identical to the primary tumor in patients with extrapulmonary malignancies. We found 15 cases with EBM. Primary tumors included breast (3), colorectal (3), and renal (2) carcinomas; Malignant Melanoma (2); synovial sarcoma (1), ampulla of Vater adenocarcinoma (1), pheochromocytoma (1), hypernephroma (1), and Hodgkin's Disease (1). The most common symptoms were dyspnea (80%), cough (66.6%) and hemoptysis (33.3%). Multiple (40%) or single (13.3%) pulmonary nodules, mediastinal or hilar lymphadenopathy (40%), and effusion (40%) were the most common radiographic findings. The mean interval from initial diagnosis to diagnosis of EBM was 32.8 months (range, 0-96 months) and median survival time was 18 months (range, 4-84). As a conclusion, various extrapulmonary tumors can metastasize to the bronchus. Symptoms and radiographic findings are similar with those in primary lung cancer. Therefore, EBM should be discriminated from primary lung cancer histopathologically. Although mean survival time is usually short, long-term survivors were reported. Consequently, treatment must be planned according to the histology of the primary tumor, evidence of metastasis to other sites and medical status of the patient. PMID:16475029

  19. Endobronchial metastases from extrathoracic malignancies.

    PubMed

    Akoglu, Sebahat; Uçan, Eyüp S; Celik, Gülperi; Sener, Gülper; Sevinç, Can; Kilinç, Oğuz; Itil, Oya

    2005-01-01

    Endobronchial metastases (EBM) from extrapulmonary malignant tumors are rare. The most common extrathoracic malignancies associated with EBM are breast, renal and colorectal carcinomas. In this study, we aimed to evaluate the clinical, radiographic and bronchoscopic aspects of patients with EBM who were diagnosed between 1992 and 2002. Data about patients' clinical conditions, symptoms, radiographic and endoscopic findings, and histopathological examination results were investigated. EBM was defined as bronchoscopically visible lesions histopathologically identical to the primary tumor in patients with extrapulmonary malignancies. We found 15 cases with EBM. Primary tumors included breast (3), colorectal (3), and renal (2) carcinomas; Malignant Melanoma (2); synovial sarcoma (1), ampulla of Vater adenocarcinoma (1), pheochromocytoma (1), hypernephroma (1), and Hodgkin's Disease (1). The most common symptoms were dyspnea (80%), cough (66.6%) and hemoptysis (33.3%). Multiple (40%) or single (13.3%) pulmonary nodules, mediastinal or hilar lymphadenopathy (40%), and effusion (40%) were the most common radiographic findings. The mean interval from initial diagnosis to diagnosis of EBM was 32.8 months (range, 0-96 months) and median survival time was 18 months (range, 4-84). As a conclusion, various extrapulmonary tumors can metastasize to the bronchus. Symptoms and radiographic findings are similar with those in primary lung cancer. Therefore, EBM should be discriminated from primary lung cancer histopathologically. Although mean survival time is usually short, long-term survivors were reported. Consequently, treatment must be planned according to the histology of the primary tumor, evidence of metastasis to other sites and medical status of the patient.

  20. Malignant hemangiopericytoma of the breast.

    PubMed

    Kudawara, I; Ueda, T; Araki, N; Mori, S

    2001-01-01

    A55-year-old woman presented with 1-year history of mass in the right breast. Incisional biopsy showed the tumor to be malignant hemangiopericytoma from its histology. The tumor showed low--intermediate density and peripheral contrast enhancement on CT, and inhomogeneous mixed-signal intensity both on T1W and T2W images, and peripheral enhancement with Gd-DTPA on MRI with no invasion of the duct.

  1. Effectiveness of Mentha piperita in the Treatment of Infantile Colic: A Crossover Study.

    PubMed

    Alves, João Guilherme Bezerra; de Brito, Rita de Cássia Coelho Moraes; Cavalcanti, Telma Samila

    2012-01-01

    Background. Infantile colic is a distressing and common condition for which there is no proven standard treatment. Objective. To compare the efficacy of Mentha piperita with simethicone in treatment for infantile colic. Methods. A double-blind crossover study was performed with 30 infants attending IMIP, Recife, Brazil. They were randomized to use Mentha piperita or simethicone in the treatment of infantile colic during 7 days with each drug. Primary outcomes were mother_s opinion about responses to the treatment, number of daily episodes of colic, and time spent crying, measured by a chronometer. Mann-Whitney and chi-square tests were used to compare the results. This study was previously approved by the Ethical Committee in Research at IMIP. Results. At baseline daily episodes of infantile colic was 3.9 (±1.1) and the mean crying time per day was 192 minutes (±51.6). At the end of the study daily episodes of colic fell to 1.6 (±0.6) and the crying duration decreased to 111 (±28) minutes. All mothers reported decrease of frequency and duration of the episodes of infantile colic and there were no differences between responses to Mentha piperita and simethicone. Conclusions. These findings suggest that Mentha piperita may be used to help control infantile colic. However, these results must be repeated by others studies.

  2. Persistent neurogenic bladder dysfunction due to infantile botulism.

    PubMed

    Breinbjerg, Anders; Rittig, Søren; Kamperis, Konstantinos

    2014-01-13

    We present a child, 5 months of age, diagnosed with infantile botulism, showing the signs of neurogenic bladder dysfunction. The patient presented with progressive muscle weakness, hypotonia, suckling and swallowing problems and absent peripheral reflexes at clinical examination. Botulinum neurotoxin type A was detected in her serum, confirming the diagnosis. Starting at day 6, the girl presented with a urinary retention initially necessitating free bladder drainage and subsequently intermittent catheterisation. After 6 weeks in intensive care, the patient recovered but the bladder underactivity persisted. Four months following recovery, a urodynamic evaluation was performed, showing a near normal detrusor activity and normal bladder emptying, and the catheterisation was ceased. At 6 months, the girl was diagnosed with a urinary tract infection and bladder emptying problems, which persisted, and clean intermittent catheterisation was started. The final urodynamic evaluation, a year and a half after her initial presentation, revealed a normal detrusor activity and an adequate bladder emptying.

  3. Infantile refsum disease with enamel defects: a case report.

    PubMed

    Tran, Dorothy; Greenhill, William; Wilson, Stephen

    2011-01-01

    The purpose of this paper was to present the case of a 15-year-old female diagnosed with infantile Refsum disease (IRD) that presented with generalized enamel defects in the primary and permanent dentition. IRD is an inherited autosomal recessive disorder characterized by aberrant peroxisome function. IRD patients present with multiple clinical manifestations, including: retinitis pigmentosa; nystagmus; sensorineural hearing loss; mental and developmental delays; neuromotor defects; and cerebral ataxia. Craniofacial abnormalities reported include: high forehead; hypoplastic supraorbital ridges; epicanthal folds; midface hypoplasia; and large anterior fontanelle. At present, there is only one known report of dental anomaly associated with this syndrome. This represents the first known reported case in the pediatric dental literature.

  4. Conventional and advanced MR imaging in infantile Refsum disease.

    PubMed

    Kılıç, Mustafa; Karlı-Oğuz, Kader; Haliloğlu, Göknur; Topçu, Meral; Wanders, Ronald James; Coşkun, Turgay

    2015-01-01

    We report magnetic resonance (MR) imaging findings including diffusion-weighted imaging and proton MR spectroscopy findings in a patient with infantile Refsum disease. The initial diagnosis was made on the basis of history, clinical findings and biochemical studies. Bilateral and symmetrical involvement of the peritrigonal white matter, centrum semiovale, thalami, corpus callosum and corticospinal tracts as assessed by increased T2 signal was highly suggestive of a peroxisomal disorder. Facilitated diffusion was observed in diseased parenchyma. Long echo-time (TE: 270 ms) MRS showed decreased N-acetyl-aspartate/creatine and elevated choline/creatine and lactate; short echo-time MRS (TE: 30 ms) revealed increased myoinositol at 3.56 ppm and lipid peaks at 0.9 and 1.3 ppm. A major contribution to the differential diagnosis came from MR imaging and proton MRS, as discussed in this report.

  5. [Neurovegetative and hypothalamic syndromes in children with infantile cerebral palsy].

    PubMed

    Maslova, O I; Lebedev, B V

    1980-01-01

    An analysis of the neuropsychic and vegetative status of 108 children aged 3 months to 7 years suffering from infantile cerebral paralysis has shown that in a great part of the patients a neurovegetative or hypothalamic syndrome can be additionally specified. An analysis of the totality of the background vegetative characteristics shows that the effection of this division of the nervous system is of a mixed character. Different direction of the vegetative reactions, i.e. sympathetic or parasympathetic, can be noted in different forms of the paralysis. The neurovegetative syndrome can be discerned in children with a noticeable psychic defect, while the hypothalamic one in children with a good psychic development. PMID:7435028

  6. [The infantile sexual seduction: revolution and aftermath of Freud's theory].

    PubMed

    Figueroa, Gustavo C

    2014-01-01

    There is no question about the negative effects of child sexual abuse. Freud's seduction theory asserts that psychoneuroses in adults are caused by reactivation of forgotten recollections of gross sexual abuse (involving the genitals) that had taken place prior to the age of 8 to 10 years. His contribution consisted in the discovery of specific events, prior to puberty, which were indispensable to the formation of psychoneuroses. If an adult patient recalled an infantile sexual experience, Freud assumed the interference of a pervert: a child was sexually innocent unless it had been traumatized. But Freud's technique of clinical exploration had not attained adequate reliability and was not immune to prejudices. Freud himself dropped his mechanical, static theory that presupposed a single type of accidentally occurring trauma prior to puberty, allowing him to develop his new drive and fantasy theory.

  7. [Neuroanatomical, genetic and neurochemical aspects of infantile autism].

    PubMed

    Gerhant, Aneta; Olajossy, Marcin; Olajossy-Hilkesberger, Luiza

    2013-01-01

    Infantile autism is a neurodevelopmental disorder characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. The etiopathogenetic processes of autism are extremely complex, which is reflected in the varying course and its symptomatology. Trajectories of brain development and volumes of its structures are aberrant in autistic patients. It is suggested that disturbances in sertotoninergic, gabaergic, glutaminergic, cholinergic and dopaminergic neurotransmission can be responsible for symptoms of autism as well as can disturb the development of the young brain. The objective of this article is to present the results of reasearch on neuroanatomical, neurochemical and genetic aspects of autism.

  8. Risk factors for infantile hypothermia in early neonatal life.

    PubMed

    Zabelle, J; Dagan, R; Neumann, L; Sofer, S

    1990-06-01

    Hypothermia in infancy is not uncommon among the low socioeconomic population in various parts of the world. It is prevalent in Israel and is associated with severe morbidity and mortality. We tried to identify neonates at risk among the population of the Negev district of Israel. Ninety-one infant hospitalized with infantile hypothermia (IH) during the years 1974 to 1981 were identified. The neonates belonged to two distinct ethnic groups, Bedouins and Jews, and were compared with 120 healthy controls of similar background. Our data show that premature infants and babies with low birth weight born during the cold season to young (inexperienced) mothers of lower socioeconomic strata and who sustained perinatal morbidity are at risk for IH. It is suggested that parents of infants at risk should be approached while the baby is till in the nursery, be advised about the possibility of hypothermia, and institute the appropriate preventive measures.

  9. An anatomical commentary on the concept of infantile oral sadism.

    PubMed

    Freeman, R; Freeman, T

    1992-01-01

    Although this paper is entitled 'An anatomical commentary on the concept of infantile oral sadism' it is also an attempt to examine hypotheses regarding the sources of oral sadism. Freud did not explicitly refer to an oral sadistic phase of development in early infancy, believing as he did that sadism was a component instinct. Abraham postulated that oral sadism arises when the teeth erupt and the jaw muscles function. Melanie Klein, however, came to claim that oral sadistic impulses operate from birth and arise from the infant's innate potential for fantasy. This hypothesis is akin to Freud's theory of primal fantasies. The anatomical record supports Abraham's theory of the source of oral sadism. PMID:1512124

  10. Management of Inoperable Malignant Neoplasms.

    PubMed

    Kiess, Ana P; Quon, Harry

    2016-01-01

    For patients with inoperable salivary gland malignancy, radiation therapy has significant limitations but has been the mainstay of treatment. With standard photon radiation (X-rays), the 10-year loco-regional control (LRC) and overall survival rates are only ∼25%. Neutron radiation has potential biological advantages over photon radiation because it causes increased DNA damage, and studies of patients with inoperable salivary gland malignancy have shown improved 6-year LRC and overall survival of ∼60%. However, neutron radiation may also increase the risk of late toxicities, especially central nervous system toxicities after treatment of tumors involving the base of the skull. Proton radiation has potential physical advantages due to minimal exit dose through normal tissues, and a recent study has demonstrated 90% 5-year LRC after combined proton/photon radiation for adenoid cystic carcinoma involving the base of the skull. Stereotactic radiosurgery has also been used in combination with neutrons or standard photons as a technique to boost the skull base. The use of concurrent chemotherapy as a radiosensitizer has been considered based on extrapolation of data on squamous cell carcinomas, but further data are needed on inoperable salivary gland malignancies. Newer targeted therapies are also under investigation, and clinical trial enrollment is encouraged. PMID:27093559

  11. TGFα expression in myeloid malignancies

    PubMed Central

    Mirzai, Bob; Fuller, Kathy; Erber, Wendy N

    2016-01-01

    Background Transforming growth factor α (TGFα) is a peptide growth factor known to be expressed in normal haemopoiesis. It is also expressed in a range of epithelial neoplasms but has not been assessed in haemopoietic malignancies. We have performed an immunohistochemical evaluation of TGFα in acute and chronic myeloid malignancies. Methods TGFα expression was semiquantitatively assessed in 69 normal bone marrow trephines and 157 cases of myeloid malignancy using an immunohistochemical approach. Results Blast cells of myeloid origin in acute myeloid leukaemia (AML), myelodysplasia and accelerated and blast phases of chronic myeloid leukaemia (CML) were TGFα positive. In acute promyelocytic leukaemia the neoplastic cells had significantly weaker TGFα expression than seen in other forms of AML. The blast cells in CML-accelerated and blast phases were positive with similar expression to AML. Conclusions TGFα is expressed in neoplastic myeloblasts and could, therefore, be used as blast cell biomarker in diagnostic haematopathology. In addition, TGFα immunohistochemistry may be of use in identifying a therapeutic target. PMID:26984929

  12. Malignant cancer and invasive placentation

    PubMed Central

    D'Souza, Alaric W.; Wagner, Günter P.

    2014-01-01

    Cancer metastasis is an invasive process that involves the transplantation of cells into new environments. Since human placentation is also invasive, hypotheses about a relationship between invasive placentation in eutherian mammals and metastasis have been proposed. The relationship between metastatic cancer and invasive placentation is usually presented in terms of antagonistic pleiotropy. According to this hypothesis, evolution of invasive placentation also established the mechanisms for cancer metastasis. Here, in contrast, we argue that the secondary evolution of less invasive placentation in some mammalian lineages may have resulted in positive pleiotropic effects on cancer survival by lowering malignancy rates. These positive pleiotropic effects would manifest themselves as resistance to cancer cell invasion. To provide a preliminary test of this proposal, we re-analyze data from Priester and Mantel (Occurrence of tumors in domestic animals. Data from 12 United States and Canadian colleges of veterinary medicine. J Natl Cancer Inst 1971;47:1333-44) about malignancy rates in cows, horses, cats and dogs. From our analysis we found that equines and bovines, animals with less invasive placentation, have lower rates of metastatic cancer than felines and canines in skin and glandular epithelial cancers as well as connective tissue sarcomas. We conclude that a link between type of placentation and species-specific malignancy rates is more likely related to derived mechanisms that suppress invasion rather than different degrees of fetal placental aggressiveness. PMID:25324490

  13. Recurrent malignant salivary gland neoplasms.

    PubMed

    Rodriguez-Bigas, M A; Sako, K; Razack, M S; Shedd, D P; Bakamjian, V Y; Castillo, N B; Rao, U

    1989-10-01

    Recurrent salivary gland malignancies present difficult therapeutic decisions and poor prognosis in many instances, and treatment becomes of a palliative nature only. As many of the salivary gland malignancies we see are of the recurrent type, the following study was done to determine the efficacy of a vigorous attempt at retreatment. During the period January 1, 1960, through December 31, 1984, 352 patients with major and minor salivary gland tumors were evaluated at our institution. There were 149 benign lesions and 203 patients with malignant tumors. Of these, 99 patients had recurrent and metastatic tumors that had been treated initially elsewhere. Thirty-three of these patients were able to be treated with curative intent: surgery, 21; surgery plus radiation, 9; radiation therapy alone, 2; and radiation plus chemotherapy, 1. The 5 year survival with no evidence of disease was achieved in three patients with surgery alone and two patients with surgery plus radiation therapy. The group of five patients was comprised of two patients with adenoid cystic carcinomas of the parotid, one with intermediate grade mucoepidermoid carcinoma of the parotid, one, sebaceous cell carcinoma of the parotid, and one, adenoid cystic carcinoma of an accessory salivary gland. The results of this study serve to re-emphasize the relative poor yield of attempts at retreatment of loco-regional recurrence of salivary gland tumors.

  14. Pulmonary infantile hemangioma presenting as a mass in a premature male infant: a case report focusing on pathological features.

    PubMed

    Siaghani, Parwiz J; Chavez, Claire; Anselmo, Dean M; Shane, Lisa

    2015-01-01

    Infantile hemangiomas are the most common benign neoplasm of infancy, with most occurring in the head and neck region. Predisposing factors include prematurity, low birth weight, multiple gestations, advanced maternal age, and chorionic villous sampling. In addition, white women, particularly those with a family history, are also at a higher risk. However, pulmonary infantile hemangiomas are exceedingly rare, with only a few case reports in the literature. Infantile hemangiomas should be considered in the differential diagnosis of a pulmonary mass in the early pediatric population. We present a case of pulmonary infantile hemangioma in a premature male infant successfully managed by surgical excision, with an emphasis on the pathogenesis and histologic features.

  15. Malignant Peripheral Nerve Sheath Tumor -A Rare Malignancy in Mandible.

    PubMed

    Majumdar, Sumit; Kotina, Sreekanth; Mahesh, Nirujogi; Uppala, Divya; Kumar, Singam Praveen

    2016-06-01

    Malignant Peripheral Nerve Sheath Tumor (MPNST) is biologically an aggressive tumor that is usually found in the extremities, trunk and infrequently found in the head and neck area particularly in the jaws, arising from the cells allied with nerve sheath. Mandibular MPNST may either arise from a preexisting neurofibroma or develop de novo. Because of the greater variability from case to case in overall appearance both clinically and histologically, a case of MPNST of the mandible in a 25-year-old female patient is reported. The lesion was excised and immunohistological studies (S-100 & Neuron specific enolase) were conducted to confirm the neural origin.

  16. Malignant Peripheral Nerve Sheath Tumor -A Rare Malignancy in Mandible

    PubMed Central

    Majumdar, Sumit; Kotina, Sreekanth; Uppala, Divya; Kumar, Singam Praveen

    2016-01-01

    Malignant Peripheral Nerve Sheath Tumor (MPNST) is biologically an aggressive tumor that is usually found in the extremities, trunk and infrequently found in the head and neck area particularly in the jaws, arising from the cells allied with nerve sheath. Mandibular MPNST may either arise from a preexisting neurofibroma or develop de novo. Because of the greater variability from case to case in overall appearance both clinically and histologically, a case of MPNST of the mandible in a 25-year-old female patient is reported. The lesion was excised and immunohistological studies (S-100 & Neuron specific enolase) were conducted to confirm the neural origin. PMID:27504425

  17. Meningioma after radiotherapy for malignancy.

    PubMed

    Morgenstern, Peter F; Shah, Kalee; Dunkel, Ira J; Reiner, Anne S; Khakoo, Yasmin; Rosenblum, Marc K; Gutin, Philip

    2016-08-01

    Complications of radiation exposure have gained importance with increasing cancer survivorship. Secondary malignancies have been associated with cranial radiation exposure. We present our experience with intracranial radiation-induced meningioma (RIM) and discuss the implications of its presentation and natural history for patient management. Patients diagnosed with meningioma who had received radiation therapy between 1960 and 2014 were identified. Records were retrospectively reviewed for details of radiation exposure, previous malignancies, meningioma subtypes, multiplicity and pathologic descriptions, treatment and follow-up. Thirty patients were diagnosed with RIM. Initial malignancies included acute lymphocytic leukemia (33.3%), medulloblastoma (26.7%) and glioma (16.7%) at a mean age of 8.1years (range 0.04-33years). The mean radiation dose was 34Gy (range 16-60Gy) and latency time to meningioma was 26years (range 8-51years). Twenty-one patients (70%) underwent surgery. Of these, 57.1% of tumors were World Health Organization (WHO) grade I while 42.9% were WHO II (atypical). The mean MIB-1 labeling index for patients with WHO I tumors was 5.44%, with 33.3% exhibiting at least 5% staining. Mean follow-up after meningioma diagnosis was 5.8years. Mortality was zero during the follow-up period. Meningioma is an important long-term complication of therapeutic radiation. While more aggressive pathology occurs more frequently in RIM than in sporadic meningioma, it remains unclear whether this translates into an effect on survival. Further study should be aimed at delineating the risks and benefits of routine surveillance for the development of secondary neoplasms after radiation therapy.

  18. Primary malignant myelomatous pleural effusion.

    PubMed

    Mangla, Ankit; Agarwal, Nikki; Kim, George J; Catchatourian, Rosalind

    2016-08-01

    Primary malignant myelomatous pleural effusion (PMMPE) occurs in less than 1% of patients with multiple myeloma and is diagnosed either by visualization of plasma cells on cytology or by positive flow cytometry. The presence of immature plasma cells characterized by high nucleus to cytoplasm ratio, visible nucleolus and presence of Mott cells and Russell bodies are independent poor prognostic factors. The clinician should differentiate PMMPE from secondary pleural effusion as it is associated with a significantly worse prognosis and poor overall survival. PMID:27525090

  19. Multidisciplinary management of prostate malignancy.

    PubMed

    Basler, Joseph W; Jenkins, Carol; Swanson, Gregory

    2005-05-01

    Most urologic malignancies are diagnosed initially and managed by urologists. However, better outcomes may be attained by integrating the surgical, medical, and radiologic disciplines. The primary care physician remains an important cornerstone whose talents should not be underestimated in the overall patient management scheme. Additional services such as endocrinology, physical therapy, pain control, hospice, nutrition, biofeedback, and hyperbarics, among others, should be considered in the overall health care team. The organization of the team, including definition of the duties of key personnel and even the physical framework of the clinic, contribute to its success in treating patients with prostate cancer. Pitfalls of the process also are discussed in this article.

  20. Vaccine therapies for pediatric malignancies.

    PubMed

    Rousseau, Raphaël F; Brenner, Malcolm K

    2005-01-01

    Cancer vaccines are examples of active immunotherapy. In pediatric malignancy such active strategies may be particularly problematic because of immune suppression produced by the tumor or its intensive treatment with combined chemotherapy. Nonetheless, the expression of tumor-specific and tumor-associated antigens on a range of pediatric tumors has encouraged investigation of the approach in patients with either bulky or minimal residual disease. Here we describe promising results in neuroblastoma and acute leukemia, suing genetically modified whole cell vaccines, peptides, and dendritic cells. The difficulties of conducting and evaluating such studies in a pediatric population are also described, and a strategy for cancer vaccine development is outlined.

  1. Life insurance after malignant disease.

    PubMed

    Fitzgerald, R H

    1981-11-01

    Forty-five life insurance companies responded to a questionnaire on insurance industry attitudes towards patients with a history of malignancy other than skin carcinoma. Although the criteria for acceptance, provisions of the policy, and philosophy about adjuvant treatment varied, all companies would underwrite such patients provided that at application there was no evidence of persistent or recurrent disease or severe complications of therapy. The concept of excess mortality (observed death rates versus standard expected death rates) is used with other factors in calculating premiums. Legal and ethical responsibilities of physicians associated with insurance applications are briefly discussed.

  2. Rare emerging malignant skin tumours.

    PubMed

    Rongioletti, F; Ferreli, C; Pinna, A L; Atzori, L

    2015-08-01

    As clinical skills improve and innovative diagnostic techniques become available in the field of dermatology and dermatopathology, new types or additional variants of malignant skin tumors are described. This article reviews the current nomenclature, clinico-pathological features, differential diagnosis, prognostic and therapeutic implications of some new dermato(patho)logical rare emerging skin tumors, including epithelial tumors (squamous cell carcinoma with mucinous metaplasia), adnexal tumors (endocrine mucin-producing sweat gland carcinoma), soft tissue tumors of vascular differentiation (pseudolymphomatous cutaneous angiosarcoma, pseudomyogenic hemangioendothelioma), hematopoietic tumors (blastic plasmacytoid dendritic cell neoplasm) and mixed epithelial/melanocytic tumor (squamomelanocytic tumor). PMID:26086411

  3. Benign cardiac tumours, malignant arrhythmias

    PubMed Central

    Myers, Kimberley A; Wong, Kenny K; Tipple, Marion; Sanatani, Shubhayan

    2010-01-01

    Four cases of pediatric cardiac tumours (PCTs) associated with ventricular arrhythmias are reported. Sudden cardiac death attributable to the tumour occurred in two children. A third child received an implantable cardioverter defibrillator and the fourth had persistent ventricular arrhythmia despite medical therapy. Most PCTs are considered benign; however, the development of malignant arrhythmias may complicate the management of these tumours in some patients. The literature regarding the arrhythmogenic potential of PCTs and the use of implantable cardioverter defibrillators in these patients is reviewed. The series highlights the deficiency of prognostic information for this cohort. PMID:20151061

  4. Malignant Peripheral Nerve Sheath Tumor.

    PubMed

    James, Aaron W; Shurell, Elizabeth; Singh, Arun; Dry, Sarah M; Eilber, Fritz C

    2016-10-01

    Malignant peripheral nerve sheath tumor (MPNST) is the sixth most common type of soft tissue sarcoma. Most MPNSTs arise in association with a peripheral nerve or preexisting neurofibroma. Neurofibromatosis type is the most important risk factor for MPNST. Tumor size and fludeoxyglucose F 18 avidity are among the most helpful parameters to distinguish MPNST from a benign peripheral nerve sheath tumor. The histopathologic diagnosis is predominantly a diagnosis of light microscopy. Immunohistochemical stains are most helpful to distinguish high-grade MPNST from its histologic mimics. Current surgical management of high-grade MPNST is similar to that of other high-grade soft tissue sarcomas. PMID:27591499

  5. Postirradiation malignant salivary gland tumor.

    PubMed

    Rice, D H; Batsakis, J G; McClatchey, K D

    1976-11-01

    Information concerning the relationship between salivary gland tumors and prior exposure to radiation for benign conditions or by accident is slowly being gathered. As yet, no statistical confidence can be established in this relationship. Very likely, this confidence will require studies akin to those done on the problem of thyroid cancer and irradiation. Including the case reported here, 50 tumors of the salivary glands have been reported to have followed prior radiation exposure. Twenty-three of these tumors have been malignant, with the mucoepidermoid carcinoma the most frequent histological type. The latent period in salivary tissues is 20 or more years.

  6. Malignant chondroid syringoma of the pinna.

    PubMed

    Krishnamurthy, Arvind; Aggarwal, Niharika; Deen, Suhail; Majhi, Urmila; Ramshankar, Vijayalakshmi

    2015-01-01

    Chondroid syringoma (CS) represents the cutaneous counterpart of mixed tumor (pleomorphic adenoma) of salivary glands. The malignant counterpart of CS, termed as "malignant CS" is a malignant eccrine neoplasm which lacks distinctive clinical features, often delaying initial diagnosis. Unlike its benign counterpart which often localizes in the head and neck region, malignant CS most often encountered in the trunk and the extremities. We report a rare case of an aggressive malignant CS of the left pinna with cervical lymph node metastasis. Our patient, to the best of our knowledge, possibly is the first case of malignant CS of the pinna and the fourth to arise in the head and neck region. The diagnostic challenges with an added emphasis on the role of positron emission tomography-computed tomography in aiding the management of this rare tumor are discussed.

  7. [Malignant melanoma coexisting with pregnancy].

    PubMed

    Krasomski, G; Broniarczyk, D; Gładysiak, A

    1992-09-01

    An extremely rare case of melanoma amelanoticum coexisting with pregnancy has been discussed. Pregnant A. Ch., age 42, was admitted to the Polish Mother's Health Centre Memorial Hospital on the 22nd of August, 1990 with a diagnosis of the 5th pregnancy, the 2nd delivery, the 30th week of gestation, state after cesarean section. Suspected malignant melanoma. Stomach ulceration. Thrombophlebitis of left lower extremity. General condition--medium hard. For the last three days she did not report fetal movements, fetal heartbeat was not detected either. Us examination confirmed fetal death. On the 24th of August, 1990, spontaneous vaginal delivery terminated the pregnancy, giving a dead, macerated female fetus, body weight of 1500 g. On the 3rd day after delivery the patient died with growing circulation-respiratory insufficiency. Autopsy revealed melanoma malignum amelanoticum disseminatum. Neither an autopsy of the fetus nor histopathological examinations of the secundines were performed for the advanced maceration. The coexistence of pregnancy with malignant melanoma in this case brought a tragic end both for the mother and the fetus. PMID:1305602

  8. Cutaneous manifestations of genitourinary malignancy.

    PubMed

    Raghavan, Derek

    2016-06-01

    Genitourinary cancers are associated with a range of cutaneous syndromes, which can reflect direct metastatic spread, non-metastatic manifestations of malignancy or the consequences of treatment. More than 220,000 new cases of prostate cancer occur each year in the United States, and thus the associations with cutaneous involvement are quite well documented-rare metastatic spread, vasculitic and hemorrhagic syndromes. Cancers of the bladder and kidney may be associated with direct cutaneous metastases, vasculitic syndromes, hereditary leiomyomatosis, and other familial syndromes. Testicular cancer occasionally metastasizes to the skin but more commonly is associated with the dysplastic nevus (multiple atypical nevus) syndrome. A structured approach to history-taking, examination, and investigation is essential for optimal management, especially when these syndromes precede the diagnosis of a known malignancy. A brief review of the more common iatrogenic cutaneous complications is provided, and includes Raynaud's phenomenon, purpura, rash, hand-foot syndrome, the consequences of marrow failure, and bleomycin-induced pigmentation. PMID:27178687

  9. Ophthalmic Manifestations of Hematopoietic Malignancy

    PubMed Central

    2016-01-01

    Purpose. To report the ocular findings in patients with hematopoietic malignancy with optic nerve involvement and abducens nerve palsy. Methods. The medical records of all cases of hematopoietic cancer with ophthalmic involvements seen in the Department of Ophthalmology of the National Center for Global Health and Medicine between 2009 and 2014 were reviewed. Results. Eight patients with hematopoietic cancer with optic nerve invasion or abducens nerve palsy were studied. The primary diseases were 3 cases of multiple myeloma, 1 case of acute lymphocytic leukemia, 1 case of follicular lymphoma, and 3 cases of AIDS-related lymphoma. Six cases had optic nerve invasion, 2 cases had abducens nerve palsy, and 1 case had optic nerve invasion of both eyes. The median visual acuity of eyes with optic nerve invasion was 0.885 logarithm of the minimum angle of resolution (logMAR) units. The final visual acuity of eyes with optic nerve invasion was 1.25 logMAR units, and that of those with sixth-nerve palsy was −0.1 logMAR units. Six cases died during the five-year follow-up period. An ophthalmic involvement in patients with hematopoietic cancer, especially AIDS-related lymphoma, was associated with poor prognosis. Conclusion. Because ophthalmic involvement in patients with hematopoietic malignancy has a poor prognosis, an early diagnosis of the cancers by the ophthalmologic findings by ophthalmologists could improve the prognosis. PMID:27375913

  10. Imaging probe for tumor malignancy

    NASA Astrophysics Data System (ADS)

    Tanaka, Shotaro; Kizaka-Kondoh, Shinae; Hiraoka, Hasahiro

    2009-02-01

    Solid tumors possess unique microenvironments that are exposed to chronic hypoxic conditions ("tumor hypoxia"). Although more than half a century has passed since it was suggested that tumor hypoxia correlated with poor treatment outcomes and contributed to cancer recurrence, a fundamental solution to this problem has yet to be found. Hypoxia-inducible factor (HIF-1) is the main transcription factor that regulates the cellular response to hypoxia. It induces various genes whose functions are strongly associated with malignant alteration of the entire tumor. The cellular changes induced by HIF-1 are extremely important targets of cancer therapy, particularly in therapy against refractory cancers. Imaging of the HIF-1-active microenvironment is therefore important for cancer therapy. To image HIF-1activity in vivo, we developed a PTD-ODD fusion protein, POHA, which was uniquely labeled with near-infrared fluorescent dye at the C-terminal. POHA has two functional domains: protein transduction domain (PTD) and VHL-mediated protein destruction motif in oxygen-dependent degradation (ODD) domain of the alpha subunit of HIF-1 (HIF-1α). It can therefore be delivered to the entire body and remain stabilized in the HIF-1-active cells. When it was intravenously injected into tumor-bearing mice, a tumor-specific fluorescence signal was detected in the tumor 6 h after the injection. These results suggest that POHA can be used an imaging probe for tumor malignancy.

  11. Malignant hyperthermia. Report of two cases.

    PubMed

    Krakowiak, F J; Vatral, J J; Moore, R C; Pickett, A B; Nylander, J E; Gullett, F C

    1979-03-01

    A dentist using local or general anesthetics must be cognizant of the possibility of malignant hyperthermia presenting as a catastrophic emergency. The purpose of this article is to describe the syndrome of malignant hyperthermia, to emphasize its early clinical symptoms, and to outline definitive treatment. Two cases of malignant hyperthermia in pediatric dental patients illustrate the clinical and laboratory features and the appropriate therapy. PMID:283351

  12. Evolution of management in peritoneal surface malignancies

    PubMed Central

    Canbay, Emel; Torun, Bahar Canbay; Torun, Ege Sinan; Yonemura, Yutaka

    2016-01-01

    Management of peritoneal surface malignancies has gradually evolved by the introduction of cytoreductive surgery in combination with intraperitoneal chemotherapy applications. Recently, peritoneal metastases of intraabdominal solid organ tumors and primary peritoneal malignancies such as peritoneal mesothelioma are being treated with this new approach. Selection criteria are important to reduce morbidity and mortality rates of patients who will experience minimal or no benefit from these combined treatment modalities. Management of peritoneal surface malignancies with this current trend is presented in this review. PMID:27528813

  13. Leuloplakia - Review of A Potentially Malignant Disorder

    PubMed Central

    Abidullah, Mohammed; Gaddikeri, Kavitha; Raghoji, Swetha; Ravishankar T, Shilpa

    2014-01-01

    Leukoplakias are oral white lesions that have not been diagnosed as any other specific disease. They are grouped under premalignant lesions, now redesignated as potentially malignant disorders. Their significance lies in the fact that they have propensity for malignant transformation at a higher rate when compared to other oral lesions. This article reviews aetiology, epidemiology, clinical characteristics, histopathologic features, malignant potential and treatment of oral leukoplakia. PMID:25302287

  14. Evolution of management in peritoneal surface malignancies.

    PubMed

    Canbay, Emel; Torun, Bahar Canbay; Torun, Ege Sinan; Yonemura, Yutaka

    2016-01-01

    Management of peritoneal surface malignancies has gradually evolved by the introduction of cytoreductive surgery in combination with intraperitoneal chemotherapy applications. Recently, peritoneal metastases of intraabdominal solid organ tumors and primary peritoneal malignancies such as peritoneal mesothelioma are being treated with this new approach. Selection criteria are important to reduce morbidity and mortality rates of patients who will experience minimal or no benefit from these combined treatment modalities. Management of peritoneal surface malignancies with this current trend is presented in this review. PMID:27528813

  15. B-Cell Hematologic Malignancy Vaccination Registry

    ClinicalTrials.gov

    2015-09-15

    Monoclonal Gammopathy of Undetermined Significance; Multiple Myeloma; Waldenstrom Macroglobulinemia; Lymphocytosis; Lymphoma, Non-Hodgkin; B-Cell Chronic Lymphocytic Leukemia; Hematological Malignancies

  16. The cutaneous manifestations of gastrointestinal malignancy.

    PubMed

    Schadt, Courtney R

    2016-06-01

    The skin is often the herald of an underlying systemic illness, and gastrointestinal malignancies can present in numerous ways in the skin. Paraneoplastic phenomenon, such as acanthosis nigricans and tripe palm, may be the first indicator of a gastrointestinal malignancy. In addition, gastrointestinal cancers can metastasize to the skin, as described in the well-known Sister Mary Joseph's nodule. Inflammatory systemic conditions such as dermatomyositis and multicentric reticulohistiocytosis can be associated with underlying malignancy. Finally, in numerous genetic syndromes with underlying malignancies, such as Muir-Torre, recognition of the skin signs leads to early diagnosis and screening. PMID:27178686

  17. Neoadjuvant Chemotherapy for Facilitating Surgical Resection of Infantile Massive Intracranial Immature Teratoma.

    PubMed

    Kitahara, Takahiro; Tsuji, Yoshihito; Shirase, Tomoyuki; Yukawa, Hiroyuki; Takeichi, Yasuhiro; Yamazoe, Naohiro

    2016-01-01

    Immature teratoma (IMT) is the most frequent histological subtype of infantile intracranial teratoma, the most common congenital brain tumor. IMT contains incompletely differentiated components resembling fetal tissues. Infantile intracranial IMT has a dismal prognosis, because it is often inoperable due to its massive size and high vascularity. Neoadjuvant chemotherapy has been shown to be effective in decreasing tumor volume and vascularity to facilitate surgical resection in other types of infantile brain tumors. However, only one recent case report described the effectiveness of neoadjuvant chemotherapy for infantile intracranial IMT in the literature, even though it is common entity with a poor prognosis in infants. Here, we describe the case of a 2-month-old male infant with a very large intracranial IMT. Maximal surgical resection was first attempted but was unsuccessful because of severe intraoperative hemorrhage. Neoadjuvant carboplatin and etoposide (CARE) chemotherapy was then administered with the aim of shrinking and devascularizing the tumor. After neoadjuvant chemotherapy, tumor size did not decrease, but intraoperative blood loss significantly decreased and near-total resection was achieved by the second and third surgery. The patient underwent adjuvant CARE chemotherapy and has been alive for 3 years after surgery without tumor regrowth. Even when neoadjuvant chemotherapy does not decrease tumor volume of infantile intracranial IMT, surgical resection should be tried because chemotherapy can facilitate surgical resection and improve clinical outcome by reducing tumor vascularity. PMID:27039944

  18. Ontogeny of memory: An update on 40 years of work on infantile amnesia.

    PubMed

    Madsen, Heather Bronwyn; Kim, Jee Hyun

    2016-02-01

    Given the profound influence that early life experiences can have upon psychosocial functioning later in life, it is intriguing that most adults fail to recall autobiographical events from their early childhood years. Infantile amnesia is the term used to describe this phenomenon of accelerated forgetting during infancy, and it is not unique to humans. Over the years, information garnered from animal studies has provided clues as to the neurobiological basis of infantile amnesia. The purpose of this review is to provide a neurobiological update on what we now know about infantile amnesia since the publication of Campbell and Spear's seminal review on the topic more than 40 years ago. We present evidence that infantile amnesia is unlikely to be explained by a unitary theory, with the protracted development of multiple brain regions and neurotransmitter systems important for learning and memory likely to be involved. The recent discovery that exposure to early life stress can alleviate infantile amnesia offers a potential explanation as to how early adversity can so profoundly affect mental health in adulthood, and understanding the neurobiological basis for this early transition may lead to the development of effective therapeutic interventions.

  19. New optional photodynamic therapy laser wavelength for infantile port wine stains: 457 nm

    NASA Astrophysics Data System (ADS)

    Wang, Ying; Zuo, Zhaohui; Gu, Ying; Huang, Naiyan; Chen, Rong; Li, Buhong; Qiu, Haixia; Zeng, Jing; Zhu, Jianguo; Liang, Jie

    2012-06-01

    To expand the optional laser wavelengths of photodynamic therapy (PDT) for port wine stain (PWS), the feasibility of applying a 457 nm laser to the PDT for infantile PWS was analyzed by mathematical simulation and was validated by clinical experiment. Singlet oxygen yield of 457 nm PDT or 532 nm PDT in an infantile PWS model and an adult PWS model was theoretically simulated. Fifteen PWS patients (14 infants and 1 adult) with 40 spots were treated with 457 nm (20 spots) and 532 nm (20 spots), respectively, in two PDT courses. Simulation results showed that under the same power density and irradiation time, singlet oxygen yield of 457 nm PDT and 532 nm PDT are similar in infantile PWS vessels. Yet, in adult PWS vessels, singlet oxygen yield of 457 nm PDT is lower than 532 nm PDT. Clinical outcomes showed that no statistic difference existed between 457 nm PDT and 532 nm PDT for infantile PWS. The result of this study suggested that 457 nm wavelength laser has the potential to be applied in PDT for infantile PWS.

  20. Evaluation of clinical course and neurocognition in children with self-limited infantile epilepsy in a Turkish cohort study.

    PubMed

    Bozaykut, Abdulkadir; Aksoy, Halil Ural; Sezer, Rabia Gönül; Polat, Muzaffer

    2015-03-01

    The outcome of children with self-limited infantile epilepsy was reported to be normal psychosocial and cognitive development as a characteristic criterion. We aimed to investigate the clinical course and neurocognitive outcome in children with self-limited infantile epilepsy in a Turkish cohort. The clinical course, electroencephalographic (EEG) characteristics, neuroimaging, treatment, and outcome of children with self-limited infantile epilepsy were retrospectively analyzed. All infants were reevaluated with the Denver Developmental Screening Test in addition to neurologic examination. Of 44 patients, self-limited familial infantile epilepsy was diagnosed in 8 infants (18.2%) and self-limited nonfamilial infantile epilepsy in 28 (63.6%). Interictal EEGs and neurologic examinations were normal in all cases. Fine motor and gross motor skills, language, adaptive personal/social skills were near-normal in all patients with self-limited familial infantile epilepsy. Delay in language parameters was observed in 2 infants with self-limited nonfamilial infantile epilepsy. Language skills should be thoroughly evaluated with detailed neurocognitive screening tests in patients with self-limited infantile epilepsy.

  1. Infantile onset diabetes mellitus in developing countries - India

    PubMed Central

    Varadarajan, Poovazhagi

    2016-01-01

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India. PMID:27022444

  2. Efficacious Healing of Ulcerated Infantile Hemangiomas Using Topical Timolol

    PubMed Central

    Chang, Chun-Shin

    2016-01-01

    Summary: Infantile hemangiomas (IHs) are the most common benign pediatric soft-tissue tumors. Ulceration—the most frequent complication of IH—tends to heal poorly and is associated with pain, bleeding, infection, and scarring. Mainstay treatment modalities include propranolol (β-blocker) and corticosteroids, whose effectiveness is countered by a need for long-term medication and risk of systemic adverse effects and ulcer recurrence. A 3-month-old infant presented to us with a large, medial thigh-ulcerated IH that progressed despite 2 prior months of dressings and topical antimicrobials. Topical timolol 0.5% thrice daily was initiated, and significant healing was evident at 1 week, with complete healing at 1 month. Timolol was stopped after 3 months, and at 18 months after cessation of timolol, there was no ulcer recurrence. This novel therapy for ulcerated IH seems to have many advantages such as rapid efficacy with easy application, no systemic adverse effects and no long-term recurrence, and current literature describing similar advantages justifies the use of this treatment modality in infants. PMID:27014550

  3. Infantile onset diabetes mellitus in developing countries - India.

    PubMed

    Varadarajan, Poovazhagi

    2016-03-25

    Infantile onset diabetes mellitus (IODM) is an uncommon metabolic disorder in children. Infants with onset of diabetes mellitus (DM) at age less than one year are likely to have transient or permanent neonatal DM or rarely type 1 diabetes. Diabetes with onset below 6 mo is a heterogeneous disease caused by single gene mutations. Literature on IODM is scanty in India. Nearly 83% of IODM cases present with diabetic keto acidosis at the onset. Missed diagnosis was common in infants with diabetes (67%). Potassium channel mutation with sulphonylurea responsiveness is the common type in the non-syndromic IODM and Wolcott Rallison syndrome is the common type in syndromic diabetes. Developmental delay and seizures were the associated co-morbid states. Genetic diagnosis has made a phenomenal change in the management of IODM. Switching from subcutaneous insulin to oral hypoglycemic drugs is a major clinical breakthrough in the management of certain types of monogenic diabetes. Mortality in neonatal diabetes is 32.5% during follow-up from Indian studies. This article is a review of neonatal diabetes and available literature on IODM from India. PMID:27022444

  4. Incidence and treatment of infantile haemangioma in preterm infants.

    PubMed

    Goelz, Rangmar; Poets, Christian F

    2015-01-01

    Infantile haemangioma (IH) are vascular tumours with a unique growth dynamic, mostly absent at birth, growth in the first months followed by involution over several years, often resulting in residual skin changes. Immune-histologically, IH cells are exclusively glucose transporter protein-1 positive.The incidence of IH is increasing with decreasing gestational age, from 1-4% in term infants to 23% in those of <1000 g birth weight, with a female and Caucasian predominance. Discovery of systemic and topical beta blockers as an effective treatment option resulted in a rapid shift away from systemic steroids towards these drugs. For preterm infants, however, data on efficacy, pharmacokinetics and long-term safety are sparse or absent. Topical treatment without systemic side effects like cryotherapy may thus be an attractive alternative at an early growth stage (<10 mm). Indications for treatment with beta blockers, mostly propranolol systemically and timolol maleat 0.5% topically, are currently extrapolated from studies in older infants. Both seem effective, but adverse effects on sleep, circulation and metabolism are well described for propranolol. Long-term outcome data for either drug are missing. In conclusion, evidence on optimal IH treatment in preterms is lacking despite their high incidence; pharmacokinetic and clinical studies are warranted.

  5. Endoscopic goniotomy: a potential surgical procedure for primary infantile glaucoma

    NASA Astrophysics Data System (ADS)

    Joos, Karen M.; Alward, Wallace L. M.; Folberg, Robert

    1993-06-01

    Goniotomy is an effective treatment for primary infantile glaucoma. Unlike trabeculotomy, goniotomy facilitates the visualization of the trabecular meshwork and does not disturb the conjunctiva. Because a cloudy cornea may prevent a clear view of the anterior chamber angle through the operating microscope, we investigated whether an endoscope would improve visualization during goniotomy in pig cadaver eyes. We deepened the anterior chamber of each pig eye with viscoelastic material. A modified 23-gauge needle attached to an Olympus 0.8 mm diameter flexible fiberoptic endoscope entered the anterior chamber through a 3 mm limbal incision. The angle was clearly seen on a videoscreen as the needle approached and incised the trabecular pillars for 120 degree(s); the iris immediately fell back. Following the procedure, the eyes were fixed in formalin and sectioned for light microscopy, or fixed in 2% glutaraldehyde for scanning electron microscopy. Trabecular pillars were present from the iris root to Schwalbe's line in the untreated region of the anterior chamber angle. The treated area demonstrated incision of the trabecular pillars with opening of the underlying trabecular meshwork.

  6. Autopsy findings in two siblings with infantile Refsum disease.

    PubMed

    Chow, C W; Poulos, A; Fellenberg, A J; Christodoulou, J; Danks, D M

    1992-01-01

    Recognition of adrenal atrophy during a review of autopsy findings in two sisters who died at 8 months and 3 1/2 years prompted estimation of very long chain fatty acids, phytanic acid and pristanic acid on wet liver fixed in formalin for 12 years. These were shown to be markedly increased and defects in multiple peroxisomal functions and decrease in particulate catalase were shown in cultured fibroblasts, confirming an abnormality of peroxisomal biogenesis. The patients had presented with failure to thrive, recurrent diarrhoea and vomiting, poor mental development, retinal pigmentation, blindness and in the older patient deafness, with only mild dysmorphic features. Autopsy in the older patient showed adrenal atrophy, cirrhosis, and foamy histiocytes in multiple organs. The brain showed no demyelination, little cytoarchitectural abnormality, occasional perivascular histiocytes in the grey matter and meninges and prominent Purkinje cells in the molecular layer of the cerebellum. In the younger patient the changes were very subtle in spite of the marked clinical similarity. Despite the young age at death the clinicopathological features are most suggestive of infantile Refsum disease. In many situations anatomical pathology can be very useful in the recognition and study of peroxisomal disorders.

  7. Contribution of Embodiment to Solving the Riddle of Infantile Amnesia.

    PubMed

    Glenberg, Arthur M; Hayes, Justin

    2016-01-01

    At least since the late nineteenth century, researchers have sought an explanation for infantile amnesia (IA)-the lack of autobiographical memories dating from early childhood-and childhood amnesia (CA), faster forgetting of events up until the age of about seven. Evidence suggests that IA occurs across altricial species, and a number of studies using animal models have converged on the hypothesis that maturation of the hippocampus is an important factor. But why does the hippocampus mature at one time and not another, and how does that maturation relate to memory? Our hypothesis is rooted in theories of embodied cognition, and it provides an explanation both for hippocampal development and the end of IA. Specifically, the onset of locomotion prompts the alignment of hippocampal place cells and grid cells to the environment, which in turn facilitates the ontogeny of long-term episodic memory and the end of IA. That is, because the animal can now reliably discriminate locations, location becomes a stable cue for memories. Furthermore, as the mode of human locomotion shifts from crawling to walking, there is an additional shift in the alignment of the hippocampus that marks the beginning of adult-like episodic memory and the end of CA. Finally, given a reduction in self-locomotion and exploration with aging, the hypothesis suggests a partial explanation for cognitive decline with aging. PMID:26834683

  8. Infantile zinc deficiency: Association with autism spectrum disorders

    PubMed Central

    Yasuda, Hiroshi; Yoshida, Kazuya; Yasuda, Yuichi; Tsutsui, Toyoharu

    2011-01-01

    Elucidation of the pathogenesis and effective treatment of autism spectrum disorders is one of the challenges today. In this study, we examine hair zinc concentrations for 1,967 children with autistic disorders (1,553 males and 414 females), and show considerable association with zinc deficiency. Histogram of hair zinc concentration was non-symmetric with tailing in lower range, and 584 subjects were found to have lower zinc concentrations than −2 standard deviation level of its reference range (86.3–193ppm). The incidence rate of zinc deficiency in infant group aged 0–3 year-old was estimated 43.5 % in male and 52.5 % in female. The lowest zinc concentration of 10.7 ppm was detected in a 2-year-old boy, corresponding to about 1/12 of the control mean level. These findings suggest that infantile zinc deficiency may epigenetically contribute to the pathogenesis of autism and nutritional approach may yield a novel hope for its treatment and prevention. PMID:22355646

  9. Infantile Systemic Hyalinosis: A Case Report with a Novel Mutation

    PubMed Central

    Al Sinani, Siham; Al Murshedy, Fathyia; Abdwani, Reem

    2013-01-01

    Infantile Systemic Hyalinosis (ISH) (OMIM 236490) is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. It is caused by mutations in the ANTXR2 (also known as CMG2) gene, which encodes a trans-membranous protein involved in endothelial development and basement membrane-extracellular matrix assembly. We describe a child with classical features of ISH presenting in infancy with severe chronic debilitating pain and progressive joint contractures. The diagnosis was confirmed by molecular DNA sequencing of ANTXR2 gene which revealed a novel homozygous mutation not previously reported; 79 bp deletion of the entire exon 11 (c.867_945del, p.E289DfsX22). Although this is the first reported case of ISH in Oman, we believe that the disease is under-diagnosed since children affected with this lethal disease pass away early in infancy prior to establishing a final diagnosis. PMID:23386947

  10. Contribution of Embodiment to Solving the Riddle of Infantile Amnesia

    PubMed Central

    Glenberg, Arthur M.; Hayes, Justin

    2016-01-01

    At least since the late nineteenth century, researchers have sought an explanation for infantile amnesia (IA)—the lack of autobiographical memories dating from early childhood—and childhood amnesia (CA), faster forgetting of events up until the age of about seven. Evidence suggests that IA occurs across altricial species, and a number of studies using animal models have converged on the hypothesis that maturation of the hippocampus is an important factor. But why does the hippocampus mature at one time and not another, and how does that maturation relate to memory? Our hypothesis is rooted in theories of embodied cognition, and it provides an explanation both for hippocampal development and the end of IA. Specifically, the onset of locomotion prompts the alignment of hippocampal place cells and grid cells to the environment, which in turn facilitates the ontogeny of long-term episodic memory and the end of IA. That is, because the animal can now reliably discriminate locations, location becomes a stable cue for memories. Furthermore, as the mode of human locomotion shifts from crawling to walking, there is an additional shift in the alignment of the hippocampus that marks the beginning of adult-like episodic memory and the end of CA. Finally, given a reduction in self-locomotion and exploration with aging, the hypothesis suggests a partial explanation for cognitive decline with aging. PMID:26834683

  11. Infantile hypertrophic pyloric stenosis in Belfast, 1957-1969.

    PubMed Central

    Dodge, J A

    1975-01-01

    Infants with hypertrophic pyloric stenosis born in Belfast during the 13 years 1957-1969 have been reviewed. Their distribution shows a bias towards higher social classes, breast feeding, and primogeniture. Obstetric factors and parental ages seem to be of no importance. More affected infants were born during winter months than would be expected. The overall incidence of infantile pyloric stenosis in this community has fallen during the period under review. Clinically, the patients started vomiting at a mean age of 22 days and it is recommended that the condition should not be called 'congenital'. The size of the tumour is mainly determined by the size of the patient, rather than by his age or duration of symptoms. Attention is drawn to the occurrence of haematemesis in 17-5% and melaena in 2-9% of infants. Jaundice occurred in 1-8% of patients in this series, and is attributed to the adverse effect of starvation on hepatic glucuronyl transferase activity. Other conditions noted in these patients included inguinal hernia, partial thoracic stomach, and phenylketonuria. Subsequent growth and development were in the anticipated range. PMID:1170811

  12. Malignant hyperthermia in dental patients.

    PubMed

    Adriani, J; Sundin, R

    1984-02-01

    Malignant hyperthermia is a hypermetabolic, frequently fatal syndrome triggered by anesthetic drugs that occurs in genetically susceptible persons. Fatalities have been reported in patients receiving dental treatment with general anesthesia. The syndrome may also be triggered by stress, exercise, muscle injury, mild infections, and other nonpharmacologic agents or stimuli in conscious patients. Treatment is symptomatic and empiric, and potential reactors are not easily identified. However, criteria for identifying most susceptible persons have been established, and therapeutic agents for prophylaxis and treatment, which appear to be effective, are available. In this paper we report experiences with the syndrome and discuss an overview of its features, criteria used for identifying susceptible persons, prophylaxis, diagnostic features, and procedures to be followed should the syndrome develop. PMID:6584489

  13. Malignant cerebral swelling following cranioplasty.

    PubMed

    Honeybul, S; Damodaran, O; Lind, C R P; Lee, G

    2016-07-01

    Over the past few years there have been a number of case reports and small cohort studies that have described so called "malignant" cerebral swelling following an uneventful cranioplasty procedure. The pathophysiology remains to be established however it has been suggested that it may be related to a combination of failure of autoregulation and the use of closed vacuum suction drainage. The current study presents three further patients who had had a decompressive hemicraniectomy for ischaemic stroke. If decompressive craniectomy is utilised in the management of neurological emergencies, close attention and wider reporting of this type of complication is required not only to focus attention on possible management strategies, but also to determine which patients are at most risk of this devastating complication. PMID:27189792

  14. Diffuse Malignant Mesothelioma: A Review

    PubMed Central

    Rom, William N.; Lockey, James E.

    1982-01-01

    Diffuse malignant mesothelioma is a signal tumor of asbestos exposure. Mesothelioma incidence has been steadily rising during the past two decades, reflecting the increases in asbestos use during and following World War II. The onset of the disease follows exposure by 25 to 40 years. The dose-response relationship appears to be much lower than that for asbestosis or lung cancer—it is not known whether current levels of exposure will entail a risk for disease 30 years hence. There is no synergistic or additive interaction with smoking for this tumor. Current knowledge indicates that pleural plaques, per se, do not increase the risk for this tumor beyond that of the previous asbestos exposure alone. Durable fibers with high aspect ratios, especially amphiboles, are associated with experimental tumor induction. Treatment modalities including surgical procedures and chemotherapy with doxorubicin and 5-azacytidine offer prospects for palliation. ImagesFigure 1.Figure 2. PMID:6761970

  15. Malignant hyperthermia in endosulfan poisoning.

    PubMed

    Jain, Gaurav; Singh, Dinesh K; Yadav, Ghanshyam

    2012-01-01

    We are reporting a case of endosulfan poisoning, admitted in a state of altered consciousness, vomiting, and seizure. The diagnosis was based on history, physical examination and positive reports from toxicological screening. After 8 hrs of admission, a sudden rise in EtCO(2), respiratory rate, heart rate, blood pressure, and body temperature was noted. Masseter spasm was there and patient's elbow/knees could not be bent upon manipulation. Caffeine halothane contraction test later confirmed it to be malignant hyperthermia (MH). We suggest that if there is a sudden rise in body temperature, stiffness in limbs or massater spasm in a case of endosulfan poisoning, the diagnosis of MH should be considered as one possibility when etiology is not certain. PMID:22736908

  16. [Malignant hyperthermia syndrome: case report].

    PubMed

    Taffarel, Pedro; Koffman, Fernando; Zifferman, Andrea; Degiuseppe, Sebastián; Mansilla, Alejandro; Darduin, Marcelo; Acerenza, Marcelo

    2015-04-01

    Malignant hyperthermia syndrome is a family myopathy of pharmacogenetic nature, which appears as a skeletal muscle hypercatabolic syndrome linked to anesthesia. The incidence in pediatrics is 1 event per 10 000 surgeries. The clinical picture may have a rapid onset associated with succinylcholine, or a late onset related to inhalation agents. The clinical picture includes tachycardia, hyperthermia, hypercapnia, acidosis, muscle rigidity, hyperkalemia, renal failure and arrhythmia. Mortality without specific treatment is of 80% and drops to 7% with the use of dantrolene sodium. We report an 8-year-old patient admitted for phimosis surgery; having tachycardia, hypercapnia and muscle rigidity, he started treatment with dantrolene sodium in the operating room, which was maintained for 72 hours. He evolved the first 12 hours with low cardiac output and creatine phosphokinase maximum of 155,147 U/L. He remained with mechanical ventilation for 48 hours. Discharge was given on the sixth day without sequelae. PMID:25727836

  17. Thigmotropism of malignant melanoma cells.

    PubMed

    Quatresooz, Pascale; Piérard-Franchimont, Claudine; Noël, Fanchon; Piérard, Gérald E

    2012-01-01

    During malignant melanoma (MM) progression including incipient metastasis, neoplastic cells follow some specific migration paths inside the skin. In particular, they progress along the dermoepidermal basement membrane, the hair follicles, the sweat gland apparatus, nerves, and the near perivascular space. These features evoke the thigmotropism phenomenon defined as a contact-sensing growth of cells. This process is likely connected to modulation in cell tensegrity (control of the cell shape). These specifically located paucicellular aggregates of MM cells do not appear to be involved in the tumorigenic growth phase, but rather they participate in the so-called "accretive" growth model. These MM cell collections are often part of the primary neoplasm, but they may, however, correspond to MM micrometastases and predict further local overt metastasis spread. PMID:22203839

  18. Malignancies in systemic lupus erythematosus

    PubMed Central

    Kale, Mruganka; Ramsey-Goldman, Rosalind; Gordon, Caroline; Clarke, Ann E; Bernatsky, Sasha

    2013-01-01

    The purpose of this review is to underline important advancements in the understanding of cancer risks in systemic lupus erythematosus (SLE). In SLE, there is an increased risk of specific kinds of malignancy. For example, the risk of non-Hodgkin’s lymphoma is increased several-fold in SLE versus the general population. In addition, heightened risks for lung cancer, thyroid cancer and cervical dysplasia in SLE have been found. Some have postulated that immunosuppressive drugs play a role, as well as other important mediators, such as lupus disease activity itself. One new frontier being explored is the significant finding of a decreased risk of certain nonhematologic cancers (e.g., breast, ovarian, endometrial and prostate) in SLE. The reasons for this are currently under study. PMID:19643208

  19. Vaccine Therapies in Malignant Glioma

    PubMed Central

    Oh, Taemin; Sayegh, Eli T.; Fakurnejad, Shayan; Oyon, Daniel; Lamano, Jonathan Balquiedra; DiDomenico, Joseph David; Bloch, Orin; Parsa, Andrew T.

    2015-01-01

    Glioblastoma is a grade IV astrocytoma that is widely accepted in clinical neurosurgery as being an extremely lethal diagnosis. Long-term survival rates remain dismal and, even when tumors undergo gross resection with confirmation of total removal on neuroimaging, they invariably recur with even greater virulence. Standard therapeutic modalities as well as more contemporary treatments have largely resulted in disappointing improvements. However, the therapeutic potential of vaccine immunotherapy for malignant glioma should not be underestimated. In contrast to many of the available treatments, vaccine immunotherapy is unique because it offers the means of delivering treatment that is highly specific to both the patient and the tumor. Peptide, heat-shock proteins, and dendritic cell vaccines collectively encapsulate the majority of research efforts involving vaccine-based treatment modalities. In this review, important recent findings for these vaccine types are discussed in the context of ongoing clinical trials. Broad challenges to immunotherapy are also considered. PMID:25431096

  20. Medicinal arsenic and internal malignancies.

    PubMed Central

    Cuzick, J.; Evans, S.; Gillman, M.; Price Evans, D. A.

    1982-01-01

    A mortality analysis has been carried out on a cohort of patients given Fowler's solution (potassium arsenite) for periods ranging from 2 weeks to 12 years between 1945 and 1969. An excess of fatal and non-fatal skin cancer was apparent, but there was no overall excess mortality from cancer. Further analyses by site of cancer, dose level, and time from first exposure are also presented. A subset of patients were examined in 1969-70 for the presence of arsenical keratoses, hyperpigmentation and skin cancer. About half the patients had one or more of these signs. Although the cancer mortality of this entire subgroup was similar to the expected value, all the cancer deaths occurred in patients with prior signs of arsenicism. These data suggest that while any excess of internal malignancy due to the use of Fowler's solution is small or non-existent, there may be a susceptible subgroup which can be identified from dermatological manifestations. PMID:6212076

  1. Benign lymphoepithelial lesion and malignancy.

    PubMed

    Hordijk, G J; Meyer, C J

    1981-01-01

    Whereas most patients with benign lymphoepithelial lesion suffer from the involvement of a major salivary gland a number evolve into a clinical form of Sjögren's syndrome or Mikulicz's disease. In a small number development of malignant lymphomas, especially non-Hodgkin's lymphomas, have been described. Therefore, regular follow-up and appropriate histological evaluation of suspected areas in all patients with a benign lymphoepithelial lesion is indicated. Histologically, diagnosis of a non-Hodgkin's lymphoma may be difficult. Demonstration of a cell pattern, monoclonal for cytoplasmic Ig by means of the immunoperoxidase technique may facilitate the diagnosis. In this report we present the history of two cases out of our series with benign lymphoepithelial lesion who developed a non-Hodgkin's lymphoma.

  2. Glucosylceramidases and malignancies in mammals.

    PubMed

    Astudillo, Leonardo; Therville, Nicole; Colacios, Céline; Ségui, Bruno; Andrieu-Abadie, Nathalie; Levade, Thierry

    2016-06-01

    Sphingolipids represent a major class of lipids that are essential constituents of eukaryotic cells. They are predominantly located in plasma membrane microdomains, and play an important structural role in regulating membrane fluidity. They are also bioactive effectors involved in diverse key cellular functions such as apoptosis and proliferation. The implication of some sphingolipids in cancer is well established whereas that of some others is still a matter of intense investigation. Glucosylceramide is the backbone of more than 300 structurally different glycosphingolipids including gangliosides and sulfatides, and is essential for mammalian development. Therefore, glucosylceramidases (also named GBA1, GBA2 and GBA3 β-glucosidases), the enzymes that hydrolyse β-glucosylceramide, play important functions. GBA1 is a lysosomal hydrolase whose deficiency causes Gaucher disease, the most prevalent inherited lysosomal storage disorder. GBA2 is a ubiquitous non-lysosomal glucosylceramidase whose mutations have been associated with some forms of hereditary spastic paraplegia. GBA3 is a cytosolic β-glucosidase, mostly present in the kidney, liver, spleen, intestine and lymphocytes of mammals, the function of which is still unclear. Whereas glucosylceramide synthase is implicated in multidrug resistance, the role of glucosylceramide breakdown in cancer is not yet fully appreciated. Defective GBA1 enzyme activity in humans, i.e., Gaucher disease, is associated with an increased risk of multiple myeloma and other malignancies. Putative molecular links between Gaucher disease and cancer, which might implicate the malignant cell and/or its microenvironment, are reviewed. The functions of GBA2 and GBA3 in cancer progression are also discussed.

  3. Malignancy in renal transplant recipients.

    PubMed

    Penn, I

    1996-01-01

    Immunosuppressed organ allograft recipients have a 3-4 fold increased risk of developing cancer, but the chance of developing certain malignancies is increased several hundredfold. With the exception of skin cancers, most of the common neoplasms seen in the general population are not increased in incidence in organ allograft recipients. Instead, there is a higher frequency of relatively rare tumors including lymphomas, Kaposi's sarcoma, other sarcomas, vulvar and perineal carcinomas, renal and hepatobiliary carcinomas. Tumors appear after a relatively short time post-transplantation. The earliest is Kaposi's sarcoma, which appears after an average of 22 months post-transplantation, and the latest are vulvar and perineal carcinomas, which present after an average of 113 months post-transplantation. Unusual features of lymphomas are: (a) high incidence of non-Hodgkin's lymphomas; (b) high frequency of Epstein-Barr virus-related lesions; (c) frequent involvement of extra-nodal sites; (d) marked predilection for the brain; and (e) frequent allograft involvement. Skin cancers also present unusual features: (a) remarkably high frequency of Kaposi's sarcoma; (b) reversal of the ratio of basal to squamous cell carcinomas seen in the general population; (c) young age of the patients; and (d) high incidence of multiple tumors, which occur in 43% of patients. Vulvar and perineal cancers occur at a much younger age than in the general population. Probably, multiple factors play a role in the etiology of the cancers. Immunodeficiency per se and infection with oncogenic viruses may be major influences. Other factors possibly playing a role include direct damage to DNA by various immunosuppressive agents; possibly synergistic effects of these treatments with carcinogens; and genetic factors influencing susceptibility or resistance to development of malignancy. PMID:18417907

  4. Infantile sexuality: Its place in the conceptual developments of Anna Freud and Donald W. Winnicott.

    PubMed

    Joyce, Angela

    2016-06-01

    This essay explores the place of infantile sexuality in the theories of Anna Freud and Donald W Winnicott. Both Anna Freud and D.W. Winnicott incorporated and at the same time changed the classical psychoanalytic account of infantile sexuality and the instinctual drives. Whilst Anna Freud remained closer to her father's original conceptualization, she developed a multidimensional model of development which gave the drives a foundational status whist also maintaining their significance in giving meaning and texture to children's subjective experience. Winnicott also retained much of S. Freud's original theorizing except that in a fundamental way he turned it on its head when considering earliest development. For him the establishment of the self was paramount, and the drives and infantile sexuality merely served to give substance to that self. PMID:27437634

  5. Infantile sexuality: Its place in the conceptual developments of Anna Freud and Donald W. Winnicott.

    PubMed

    Joyce, Angela

    2016-06-01

    This essay explores the place of infantile sexuality in the theories of Anna Freud and Donald W Winnicott. Both Anna Freud and D.W. Winnicott incorporated and at the same time changed the classical psychoanalytic account of infantile sexuality and the instinctual drives. Whilst Anna Freud remained closer to her father's original conceptualization, she developed a multidimensional model of development which gave the drives a foundational status whist also maintaining their significance in giving meaning and texture to children's subjective experience. Winnicott also retained much of S. Freud's original theorizing except that in a fundamental way he turned it on its head when considering earliest development. For him the establishment of the self was paramount, and the drives and infantile sexuality merely served to give substance to that self.

  6. Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy.

    PubMed

    Poll-The, B T; Saudubray, J M; Ogier, H A; Odièvre, M; Scotto, J M; Monnens, L; Govaerts, L C; Roels, F; Cornelis, A; Schutgens, R B

    1987-09-01

    Three patients affected by infantile Refsum disease are described with mental retardation, minor facial dysmorphia, chorioretinopathy, sensorineural hearing deficit, hepatomegaly, failure to thrive and hypocholesterolaemia. Initially, only an accumulation of phytanic acid was thought to be present. More recent findings showed a biochemical profile very similar to that found in classical Zellweger syndrome or neonatal adrenoleukodystrophy. Morphologically typical peroxisomes were absent in the liver. All three disorders are associated with multiple peroxisomal dysfunction. Because of these similarities pertinent clinical data of our three patients are compared with those of reported patients diagnosed as having infantile Refsum disease, neonatal adrenoleukodystrophy or Zellweger syndrome who survived for several years. Attention is drawn to the difference in severity of clinical features, ranging from infantile Refsum's disease to neonatal adrenoleukodystrophy and, finally, to Zellweger syndrome.

  7. Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome.

    PubMed

    Saito, Yoshiaki; Kubota, Masaya; Kurosawa, Kenji; Ichihashi, Izumi; Kaneko, Yuu; Hattori, Ayako; Komaki, Hirofumi; Nakagawa, Eiji; Sugai, Kenji; Sasaki, Masayuki

    2011-05-01

    A 3-months-old boy presented with partial seizures that soon evolved into infantile spasms. Magnetic resonance imaging revealed bilateral perisylvian polymicrogyria with right-sided predominance. ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized. Conventional G-banded chromosomal analysis was performed due to his distinctive features and a derivative chromosome 1 derived from parental balanced translocation with a karyoptype of 46,XY,der(1)t(1;4)(p36.23;q35) was detected. Fluorescent in situ hybridization analysis confirmed the deleted region of 1p36 as large as 8.6Mb. This is the first delineation of concurrent complications of infantile spasms and polymicrogyria in patient with 1p36 deletion. 1p36 deletion syndrome should be broadly recognized as a differential diagnosis of regional polymicrogyria and/or infantile spasms.

  8. Malignant Myopericytoma of Shoulder: A Rare Lesion

    PubMed Central

    Moghadam, Reza Nafisi; Shabani, Masoud; Mortazavizadeh, Mohammad Reza; Zare, Saeedeh

    2016-01-01

    Myopericytoma is a soft tissue tumor with perivascular myoid differentiation. It accounts for 1% of the vascular tumors and involves mostly cutaneous or subcutaneous tissue of the limbs in adults. Malignant myopericytoma is exceedingly rare. A 15-year old girl presented with slowly progressive mass over left shoulder region. Histopathology and immunohistochemistry after complete excision revealed it as malignant myopericytoma. PMID:27398322

  9. Malignant peripheral nerve sheet tumour of cervix.

    PubMed

    Akhavan, Ali; Moghimi, Mansour; Karimi-Zarchi, Mojgan; Navabii, Hossein

    2012-05-30

    Sarcomas account for less than 1% of malignancies of the uterine cervix. Among them, rhabdomyosarcomas are the ones most frequently reported. Malignant peripheral nerve sheet tumour (MPNST) is very rare. In this paper we present a 53-year-old woman with MPNST of the uterine cervix.

  10. Rare Malignant Tumors of the Breast

    PubMed Central

    Miller, Trevor; Albarracin, Constance; Carkaci, Selin; Whitman, Gary J; Adrada, Beatriz E

    2015-01-01

    While the more common forms of breast cancer are well understood and recognized, there are many important rare malignancies that are less appreciated. Many of these cancers have imaging findings that, when understood, help to formulate a more educated differential diagnosis. In this article, the clinical features, imaging, and pathologic findings of rare breast malignancies will be discussed. PMID:26664775

  11. Management of malignant hyperthermia: diagnosis and treatment

    PubMed Central

    Schneiderbanger, Daniel; Johannsen, Stephan; Roewer, Norbert; Schuster, Frank

    2014-01-01

    Malignant hyperthermia is a potentially lethal inherited disorder characterized by disturbance of calcium homeostasis in skeletal muscle. Volatile anesthetics and/or the depolarizing muscle relaxant succinylcholine may induce this hypermetabolic muscular syndrome due to uncontrolled sarcoplasmic calcium release via functionally altered calcium release receptors, resulting in hypoxemia, hypercapnia, tachycardia, muscular rigidity, acidosis, hyperkalemia, and hyperthermia in susceptible individuals. Since the clinical presentation of malignant hyperthermia is highly variable, survival of affected patients depends largely on early recognition of the symptoms characteristic of malignant hyperthermia, and immediate action on the part of the attending anesthesiologist. Clinical symptoms of malignant hyperthermia, diagnostic criteria, and current therapeutic guidelines, as well as adequate management of anesthesia in patients susceptible to malignant hyperthermia, are discussed in this review. PMID:24868161

  12. Autocrine growth factors and solid tumor malignancy.

    PubMed Central

    Walsh, J. H.; Karnes, W. E.; Cuttitta, F.; Walker, A.

    1991-01-01

    The ability of malignant cells to escape the constraint that normally regulate cell growth and differentiation has been a primary focus of attention for investigators of cancer cell biology. An outcome of this attention has been the discovery that the protein products of oncogenes play a role in the activation of growth signal pathways. A second outcome, possibly related to abnormal oncogene expression, has been the discovery that malignant cells frequently show an ability to regulate their own growth by the release of autocrine growth modulatory substances. Most important, the growth of certain malignant cell types has been shown to depend on autocrine growth circuits. A malignant tumor whose continued growth depends on the release of an autocrine growth factor may be vulnerable to treatment with specific receptor antagonists or immunoneutralizing antibodies designed to break the autocrine circuit. Information is rapidly emerging concerning autocrine growth factors in selected human solid tissue malignancy. Images PMID:1926844

  13. Expression of Cellular Oncogenes in Human Malignancies

    NASA Astrophysics Data System (ADS)

    Slamon, Dennis J.; Dekernion, Jean B.; Verma, Inder M.; Cline, Martin J.

    1984-04-01

    Cellular oncogenes have been implicated in the induction of malignant transformation in some model systems in vitro and may be related to malignancies in vivo in some vertebrate species. This article describes a study of the expression of 15 cellular oncogenes in fresh human tumors from 54 patients, representing 20 different tumor types. More than one cellular oncogene was transcriptionally active in all of the tumors examined. In 14 patients it was possible to study normal and malignant tissue from the same organ. In many of these patients, the transcriptional activity of certain oncogenes was greater in the malignant than the normal tissue. The cellular fes (feline sarcoma) oncogene, not previously known to be transcribed in mammalian tissue, was found to be active in lung and hematopoietic malignancies.

  14. Sodium-channel defects in benign familial neonatal-infantile seizures.

    PubMed

    Heron, Sarah E; Crossland, Kathryn M; Andermann, Eva; Phillips, Hilary A; Hall, Allison J; Bleasel, Andrew; Shevell, Michael; Mercho, Suha; Seni, Marie-Helene; Guiot, Marie-Christine; Mulley, John C; Berkovic, Samuel F; Scheffer, Ingrid E

    2002-09-14

    Ion-channel gene defects are associated with a range of paroxysmal disorders, including several monogenic epilepsy syndromes. Two autosomal dominant disorders present in the first year of life: benign familial neonatal seizures, which is associated with potassium-channel gene defects; and benign familial infantile seizures, for which no genes have been identified. Here, we describe a clinically intermediate variant, benign familial neonatal-infantile seizures, with mutations in the sodium-channel subunit gene SCN2A. This clinico-molecular correlation defines a new benign familial epilepsy syndrome beginning in early infancy, an age at which seizure disorders frequently have a sombre prognosis.

  15. Severe, persistent, and fatal T-cell immunodeficiency following therapy for infantile leukemia.

    PubMed

    Geerlinks, Ashley V; Issekutz, Thomas; Wahlstrom, Justin T; Sullivan, Kathleen E; Cowan, Morton J; Dvorak, Christopher C; Fernandez, Conrad V

    2016-11-01

    We describe five cases of children who completed chemotherapy for infantile acute lymphoblastic leukemia (ALL) and soon after were diagnosed with severe T-cell, non-HIV immunodeficiency, with varying B-cell and NK-cell depletion. There was near absence of CD3(+) , CD4(+) , and CD8(+) cells. All patients developed multiple, primarily opportunistic infections. Unfortunately, four patients died, although one was successfully treated by hematopoietic stem cell transplantation. These immunodeficiencies appeared to be secondary to intensive infant ALL chemotherapy. Our report highlights the importance of the early consideration of this life-threatening immune complication in patients who received chemotherapy for infantile ALL.

  16. Canonical Notch activation in osteocytes causes osteopetrosis.

    PubMed

    Canalis, Ernesto; Bridgewater, David; Schilling, Lauren; Zanotti, Stefano

    2016-01-15

    Activation of Notch1 in cells of the osteoblastic lineage inhibits osteoblast differentiation/function and causes osteopenia, whereas its activation in osteocytes causes a distinct osteopetrotic phenotype. To explore mechanisms responsible, we established the contributions of canonical Notch signaling (Rbpjκ dependent) to osteocyte function. Transgenics expressing Cre recombinase under the control of the dentin matrix protein-1 (Dmp1) promoter were crossed with Rbpjκ conditional mice to generate Dmp1-Cre(+/-);Rbpjκ(Δ/Δ) mice. These mice did not have a skeletal phenotype, indicating that Rbpjκ is dispensable for osteocyte function. To study the Rbpjκ contribution to Notch activation, Rosa(Notch) mice, where a loxP-flanked STOP cassette is placed between the Rosa26 promoter and the NICD coding sequence, were crossed with Dmp1-Cre transgenic mice and studied in the context (Dmp1-Cre(+/-);Rosa(Notch);Rbpjκ(Δ/Δ)) or not (Dmp1-Cre(+/-);Rosa(Notch)) of Rbpjκ inactivation. Dmp1-Cre(+/-);Rosa(Notch) mice exhibited increased femoral trabecular bone volume and decreased osteoclasts and bone resorption. The phenotype was reversed in the context of the Rbpjκ inactivation, demonstrating that Notch canonical signaling was accountable for the phenotype. Notch activation downregulated Sost and Dkk1 and upregulated Axin2, Tnfrsf11b, and Tnfsf11 mRNA expression, and these effects were not observed in the context of the Rbpjκ inactivation. In conclusion, Notch activation in osteocytes suppresses bone resorption and increases bone volume by utilization of canonical signals that also result in the inhibition of Sost and Dkk1 and upregulation of Wnt signaling. PMID:26578715

  17. Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy.

    PubMed

    Chemes, H E; Venara, M; Del Rey, G; Arcari, A J; Musse, M P; Papazian, R; Forclaz, V; Gottlieb, S

    2015-01-01

    All malignant testicular germ cell tumors (TGCT) of adult men are preceded by an in situ stage (CIS) of protracted evolution. The adult CIS is well characterized, but there is debate on the phenotype of infantile CIS, its distinction from delayed maturation of germ cells and prognostic potential. A large series of 43 patients with Disorders of Sex Development (DSD) and dysgenetic testes (90% ranging from neonates to 12 years, mean age 4.7 years), was studied by quantifying dysgenetic features, degree of germ cell abnormalities/atypia (GCA), expression of OCT 3/4 (a pluripotency-undifferentiation marker), germ cell ploidy and evolution to CIS and invasive TGCT. Findings were compared with those of normal testes. The type of gonads present defined three groups of patients: bilateral testes (BT-DSD, n = 21), one testis and one streak gonad (CT-DSD, C for combined, n = 13), and ovarian-testicular combinations (OT-DSD, n = 9). There were 5 boys with infantile CIS, bilateral in 3 (total of 8 infantile CIS) and two patients with adult CIS, bilateral in one (total of 3 adult CIS). Two patients had bilateral seminomas one at 12-17 and the other at 23 years. Histological dysgenesis was significantly higher in CT-DSD (p < 0.05), that had only 1 CIS. The highest frequency of GCA was in BT-DSD (p < 0.05), which coincided with a total of 11CIS + Seminomas. In all patients, aneuploidy was significantly higher (63%) than diploidy (p < 0.02), and GCA were more frequent in aneuploid than in diploid samples (p < 0.02). All CIS and TGCT were OCT 3/4 positive. Finally, there was a significant association between the triad Aneuploidy + GCA + OCT 3/4 positivity and the incidence of CIS (Fisher Exact test p < 0.002, relative risk 7.0). The degree of testicular dysgenesis (derived from abnormal organization of Sertoli cells in fetal testicular cords) is inversely related to the incidence of CIS. Our data demonstrate that the combined use of OCT 3/4 expression

  18. MRI Verification of a Case of Huge Infantile Rhabdomyoma

    PubMed Central

    Ramadani, Naser; Kreshnike, Kreshnike Dedushi; Muçaj, Sefedin; Kabashi, Serbeze; Hoxhaj, Astrit; Jerliu, Naim; Bejiçi, Ramush

    2016-01-01

    Introduction: Cardiac rhabdomyoma is type of benign myocardial tumor that is the most common fetal cardiac tumor. Cardiac rhabdomyomas are usually detected before birth or during the first year of life. They account for over 60% of all primary cardiac tumors. Case report: A 6 month old child with coughing and obstruction in breathing, was hospitalized in the Pediatric Clinic in UCCK, Pristine. The difficulty of breathing was heard and the pathological noise of the heart was noticed from the pediatrician. In the echo of the heart at the posterior and apico-lateral part of the left ventricle a tumoral mass was presented with the dimensions of 56 × 54 mm that forwarded the contractions of the left ventricle, the mass involved also the left ventricle wall and was not vascularized. The right ventricle was deformed and with the shifting of the SIV on the right the contractility was preserved. Aorta, the left arch and AP were normal with laminar circulation. The pericard was presented free. Radiography of thoracic organs was made; it resulted on cardiomegaly and significant bronchovascular drawing. It was completed with an MRI and it resulted on: Cardiomegaly due to large tumoral mass lesion (60×34 mm) involving lateral wall of left ventricle. It was isointense to the muscle on T1W images, markedly hyperintense on T2W images. There were a few septa or bant like hypointensities within lesion. On postcontrast study it showed avid enhancement. The left ventricle volume was decreased. Mild pericardial effusion was also noted. Surgical intervention was performed and it resulted on the histopathological aspect as a huge infantile rhadbomyoma. Conclusion: In most cases no treatment is required and these lesions regress spontaneously. Patients with left ventricular outflow tract obstruction or refractory arrhythmias respond well to surgical excision. Rhabdomyomas are frequently diagnosed by means of fetal echocardiography during the prenatal period. PMID:27147810

  19. The Temporal Impulse Response Function in Infantile Nystagmus

    PubMed Central

    Bedell, Harold E.; Ramamurthy, Mahalakshmi; Patel, Saumil S.; Subramaniam, Shobana; Vu-Yu, Lan-Phuong; Tong, Jianliang

    2008-01-01

    Despite rapid to-and-fro motion of the retinal image that results from their incessant involuntary eye movements, persons with infantile nystagmus (IN) rarely report the perception of motion smear. We performed two experiments to determine if the reduction of perceived motion smear in persons with IN is associated with an increase in the speed of the temporal impulse response. In Experiment 1, increment thresholds were determined for pairs of successively presented flashes of a long horizontal line, presented on a 65 cd/m2 background field. The stimulus-onset asynchrony (SOA) between the first and second flash varied from 5.9 to 234 ms. In experiment 2, temporal contrast sensitivity functions were determined for a 3 cpd horizontal square wave grating that underwent counterphase flicker at temporal frequencies between 1 and 40 Hz. Data were obtained for 2 subjects with predominantly pendular IN and 8 normal observers in Experiment 1 and for 3 subjects with IN and 4 normal observers in Experiment 2. Temporal impulse response functions (TIRFs) were estimated as the impulse response of a linear second-order system that provided the best fit to the increment threshold data in Experiment 1 and to the temporal contrast sensitivity functions in Experiment 2. Estimated TIRFs of the subjects with pendular IN have natural temporal frequencies that are significantly faster than those of normal observers (ca. 13 vs. 9 Hz), indicating an accelerated temporal response to visual stimuli. This increase in response speed is too small to account by itself for the virtual absence of perceived motion smear in subjects with IN, and additional neural mechanisms are considered. PMID:18550143

  20. PSYCHOLOGICAL ASPECTS OF HAEMATOLOGICAL MALIGNANCIES

    PubMed Central

    Kulhara, P.; Verma, S.C.; Bambery, P.; Nehra, R.

    1990-01-01

    SUMMMARY Sixty nine patients with various types of haematological malignancies were studied. Chronic myeloid leukaemia (n =32) was the commonest diagnosis. The patients were assessed on Hamilton Rating Scale for Depression, PGI-N2 Health Questionnaire and Presumptive Stressful Life Events Scale and those who had scores above the cut off points for Hamilton Rating Scale and/or PGI-N2 Health Questionnaire were assessed on Present State Examination. The patients were followed up at 3 and 6 months interval. At 3 months 51 patients were re-assessed whilst at 6 months only 26 could be re-evaluated. There were no significant changes in scores of Hamilton Rating scale and PGI-N2 Health Questionnaire at intake and subsequent follow-up assessments. No significant correlations between stressful life experience and severity of illness emerged. Twenty nine patients were interviewed on Present State Examination and of these 20 had diagnosable depressive neuroses- From consultation liaison psychiatric point of view, provision of psychiatric help to these patients is discussed. PMID:21927472

  1. Novel immunotherapies in lymphoid malignancies

    PubMed Central

    Batlevi, Connie Lee; Matsuki, Eri; Brentjens, Renier J.; Younes, Anas

    2016-01-01

    The success of the anti-CD20 monoclonal antibody rituximab in the treatment of lymphoid malignancies provided proof-of-principle for exploiting the immune system therapeutically. Since the FDA approval of rituximab in 1997, several novel strategies that harness the ability of T cells to target cancer cells have emerged. Reflecting on the promising clinical efficacy of these novel immunotherapy approaches, the FDA has recently granted ‘breakthrough’ designation to three novel treatments with distinct mechanisms. First, chimeric antigen receptor (CAR)-T-cell therapy is promising for the treatment of adult and paediatric relapsed and/or refractory acute lymphoblastic leukaemia (ALL). Second, blinatumomab, a bispecific T-cell engager (BiTE®) antibody, is now approved for the treatment of adults with Philadelphia-chromosome-negative relapsed and/or refractory B-precursor ALL. Finally, the monoclonal antibody nivolumab, which targets the PD-1 immune-checkpoint receptor with high affinity, is used for the treatment of Hodgkin lymphoma following treatment failure with autologous-stem-cell transplantation and brentuximab vedotin. Herein, we review the background and development of these three distinct immunotherapy platforms, address the scientific advances in understanding the mechanism of action of each therapy, and assess the current clinical knowledge of their efficacy and safety. We also discuss future strategies to improve these immunotherapies through enhanced engineering, biomarker selection, and mechanism-based combination regimens. PMID:26525683

  2. Improved radioimmunotherapy of hematologic malignancies

    SciTech Connect

    Press, O.W.

    1992-03-24

    This research project proposes to develop novel new approaches of improving the radioimmunodetection and radioimmunotherapy of malignancies by augmenting retention of radioimmunoconjugates by tumor cells. The approaches shown to be effective in these laboratory experiments will subsequently be incorporated into out ongoing clinical trials in patients. Specific project objectives include: to study the rates of endocytosis, intracellular routing, and metabolic degradation of radiolabeled monoclonal antibodies targeting tumor-associated antigens on human leukemia and lymphoma cells; To examine the effects of lysosomotropic amines (e.g. chloroquine, amantadine), carboxylic ionophores (monensin, nigericin), and thioamides (propylthiouracil), on the retention of radiolabeled MoAbs by tumor cells; to examine the impact of newer radioiodination techniques (tyramine cellobiose, paraiodobenzoyl) on the metabolic degradation of radioiodinated antibodies; to compare the endocytosis, intracellular routing, and degradation of radioimmunoconjugates prepared with different radionuclides ({sup 131}Iodine, {sup 111}Indium, {sup 90}Yttrium, {sup 99m}Technetium, {sup 186}Rhenium); and to examine the utility of radioimmunoconjugates targeting oncogene products for the radioimmunotherapy and radioimmunoscintigraphy of cancer.

  3. Malignant mesothelioma in Eastern Asia.

    PubMed

    Bianchi, Claudio; Bianchi, Tommaso

    2012-01-01

    Relatively low numbers of malignant mesotheliomas have been reported from Eastern Asia. In order to explore the causes of this fact, the available data on mesothelioma incidence/mortality in five countries (Japan, South Korea, Taiwan, Hong Kong, and Singapore) were reviewed. Data on the industrial histories of the above countries were also examined. Mesothelioma incidence was low, despite a history of high shipbuilding and port activities, in which heavy exposure to asbestos generally has occurred. Underestimation of mesothelioma could partly explain the above discrepancy. Moreover, in some areas a sufficient latency period for mesothelioma development may have not yet elapsed, due to recent industrialization. However, other possibilities have to be considered. The cancer epidemiology in Eastern Asia differs deeply from that seen in Western countries, an indication of differences in etiologic factors of cancer as well as in co-factors. In addition, the oncogenic spectrum of asbestos is wide, and not completely defined. In a very different milieu from that of Western countries, asbestos could preferentially hit targets other than serosal membranes.

  4. Malignant mesothelioma in Hong Kong.

    PubMed

    Chang, Kwok C; Leung, Chi C; Tam, Cheuk M; Yu, Wai C; Hui, David S; Lam, Wah K

    2006-01-01

    Malignant mesothelioma (mesothelioma) is rare. We conducted the first systematic study of the epidemiology of mesothelioma in Hong Kong from 1988 to May 2002 by reviewing medical records. Mesothelioma patients were identified from the database of 12 out of 20 hospitals that would have admitted mesothelioma patients territory-wide. These 12 hospitals served 73% of the total hospital bed-years of the 20 hospitals. We identified 67 mesothelioma patients. The estimated annual incidence was one per million, which was similar to the background incidence of one to two per million among Caucasians. Occupational history was available in 43 subjects. Three quarters of mesothelioma patients with available occupational history had occupational asbestos exposure. Restricting analysis to 48 patients with accessible medical records and using 67 occupational asbestosis patients for comparison, the epidemiology of mesothelioma in Hong Kong shares similarities with the literature: mean age of 63 years upon diagnosis, mean latency of 46 years, median survival of 9.5 months, male predominance, selective presentation among women, high prevalence among workers in ships and dockyards, predominantly epithelioid type, lower prevalence of asbestos bodies, and negative association with pleural plaques. Asbestos consumption in Hong Kong rose in the 1970s and peaked in early 1980s and late 1990s. Hong Kong may encounter an epidemic of mesothelioma in the 2010s if effective occupational asbestos control measures are not in place.

  5. Novel immunotherapies for hematological malignancies

    PubMed Central

    Nelson, Michelle H.; Paulos, Chrystal M.

    2014-01-01

    Summary The immune system is designed to discriminate between self and tumor tissue. Through genetic recombination, there is fundamentally no limit to the number of tumor antigens that immune cells can recognize. Yet, tumors use a variety of immunosuppressive mechanisms to evade immunity. Insight into how the immune system interacts with tumors is expanding rapidly and has accelerated the translation of immunotherapies into medical breakthroughs. Herein, we appraise the state of the art in immunotherapy with a focus on strategies that exploit the patient’s immune system to kill cancer. We review various forms of immune-based therapies, which have shown significant promise in patients with hematological malignancies, including (i) conventional monoclonal therapies like rituximab, (ii) engineered monoclonal antibodies called bispecific T cell engagers (BiTEs), (iii) monoclonal antibodies and pharmaceutical drugs that block inhibitory T-cell pathways (i.e. PD-1, CTLA-4 and IDO), and (iv) adoptive cell transfer (ACT) therapy with T cells engineered to express chimeric antigen receptors (CARs) or T-cell receptors (TCRs). We also assess the idea of using these therapies in combination and conclude by suggesting multi-prong approaches to improve treatment outcomes and curative responses in patients. PMID:25510273

  6. Malignant Peripheral Nerve Sheath Tumors.

    PubMed

    Durbin, Adam D; Ki, Dong Hyuk; He, Shuning; Look, A Thomas

    2016-01-01

    Malignant peripheral nerve sheath tumors (MPNST) are tumors derived from Schwann cells or Schwann cell precursors. Although rare overall, the incidence of MPNST has increased with improved clinical management of patients with the neurofibromatosis type 1 (NF1) tumor predisposition syndrome. Unfortunately, current treatment modalities for MPNST are limited, with no targeted therapies available and poor efficacy of conventional radiation and chemotherapeutic regimens. Many murine and zebrafish models of MPNST have been developed, which have helped to elucidate the genes and pathways that are dysregulated in MPNST tumorigenesis, including the p53, and the RB1, PI3K-Akt-mTOR, RAS-ERK and Wnt signaling pathways. Preclinical results have suggested that new therapies, including mTOR and ERK inhibitors, may synergize with conventional chemotherapy in human tumors. The discovery of new genome editing technologies, like CRISPR-cas9, and their successful application to the zebrafish model will enable rapid progress in the faithful modeling of MPNST molecular pathogenesis. The zebrafish model is especially suited for high throughput screening of new targeted therapeutics as well as drugs approved for other purposes, which may help to bring enhanced treatment modalities into human clinical trials for this devastating disease. PMID:27165368

  7. Esophageal malignancy: A growing concern

    PubMed Central

    Chai, Jianyuan; Jamal, M Mazen

    2012-01-01

    Esophageal cancer is mainly found in Asia and east Africa and is one of the deadliest cancers in the world. However, it has not garnered much attention in the Western world due to its low incidence rate. An increasing amount of data indicate that esophageal cancer, particularly esophageal adenocarcinoma, has been rising by 6-fold annually and is now becoming the fastest growing cancer in the United States. This rise has been associated with the increase of the obese population, as abdominal fat puts extra pressure on the stomach and causes gastroesophageal reflux disease (GERD). Long standing GERD can induce esophagitis and metaplasia and, ultimately, leads to adenocarcinoma. Acid suppression has been the main strategy to treat GERD; however, it has not been proven to control esophageal malignancy effectively. In fact, its side effects have triggered multiple warnings from regulatory agencies. The high mortality and fast growth of esophageal cancer demand more vigorous efforts to look into its deeper mechanisms and come up with better therapeutic options. PMID:23236223

  8. Cutaneous malignancies in immunosuppressed organ transplant recipients.

    PubMed

    Seda, Ivette M Sosa; Zubair, Adeel; Brewer, Jerry D

    2014-01-01

    During the past century, organ transplantation has delivered the miracle of life to more than 500,000 patients in need. Secondary malignancies have developed as an unforeseen consequence of intense immunosuppressive regimens. Cutaneous malignancies have been recognized as the most frequent cancer that arises post-transplantation. Among organ transplant recipients (OTRs), skin cancer is a substantial cause of morbidity and potential mortality. The authors discuss epidemiology and clinical presentation of cutaneous malignancies; associated risk factors; recommendation for the care of immunosuppressed OTRs, and emerging therapies on the horizon.

  9. Malignant pleural mesothelioma: a problematic review.

    PubMed

    Moskal, T L; Urschel, J D; Anderson, T M; Antkowiak, J G; Takita, H

    1998-01-01

    Malignant pleural mesothelioma is a rare tumor that has been difficult to study. Because of disappointing treatment results, malignant pleural mesothelioma has remained an area of active research and development. A clinicopathologic review is performed in light of several problematic issues involving diagnosis, staging, natural history, and treatment. Multimodality treatment with surgery followed by adjuvant local and systemic therapy remains the most optimal therapy. Many controversial issues still exist in the treatment of malignant pleural mesothelioma. In the ensuing years newer staging systems, better preoperative staging, newer experimental therapies, and the localization of patients at expert centers will undoubtedly have an impact on disease management.

  10. Primary aldosteronism and malignant adrenocortical neoplasia.

    PubMed Central

    Salassa, T. M.; Weeks, R. E.; Northcutt, R. C.; Carney, J. A.

    1975-01-01

    Our experience indicates that although adrenal carcinoma is not a common cause of primary aldosteronism, 4 to 5% of patients in a single large series may have a malignant adrenocortical tumor. The magnitude of the hypokalemia and the hyperaldosteronuria tends to be greater in patients with malignant tumors, but these patients cannot be clearly separated from those with benign tumors or hyperplasia on this basis. Patients who have malignant tumors may have no chemical evidence of adrenocortical dysfunction other than excessive aldosterone secretion. Finally, a good response to spironolactone for months does not exclude adrenal carcinoma as the cause of primary aldosteronism. Images Fig. 1 PMID:1179589

  11. [A case report of retroperitoneal malignant schwannoma].

    PubMed

    Okamura, K; Ito, K; Aota, Y; Suzuki, Y; Shimoji, T

    1984-08-01

    A case of retroperitoneal malignant schwannoma is reported. The patient was a 66-years-old man who was referred to our clinic because of an abdominal lump. CT scan and renal arteriography pointed out right renal cyst, but the tumor was separate from the right kidney at operation. Pathological diagnosis of this retroperitoneal tumor was malignant schwannoma. After 10 months he developed local recurrence and had transabdominal excision. He has been doing well 12 months after the second operation. Thirty-one cases of retroperitoneal malignant schwannoma in Japan are reviewed.

  12. Twice malignant transformation of hypertrophic lichen planus.

    PubMed

    Krasowska, Dorota; Kozłowicz, Katarzyna; Kowal, Małgorzata; Kurylcio, Andrzej; Budzyńska-Włodarczyk, Jolanta; Polkowski, Wojciech; Chodorowska, Grażyna

    2012-01-01

    Lichen planus is a chronic mucocutaneous T-cell-mediated disease, the cause of which remains unknown. The first case of lichen planus that transformed into squamous cell carcinoma was reported in 1903. The presented study concerns the case of a 62-year-old woman in whom twice malignant transformation of hypertrophic lichen planus in the dorsal part of the left foot developed. Several studies have pointed out the malignant transformation potential of lichen planus. Epidemiological studies from the last 20 years have revealed a malignant transformation rate of 0.27% per year, emphasizing the importance of the clinical follow-up of lichen planus patients.

  13. The Empty Fortress; Infantile Autism and the Birth of the Self.

    ERIC Educational Resources Information Center

    Bettelheim, Bruno

    The nature, origin, and treatment of infantile autism are explored with a consideration of the child's world of encounter and case histories. The beginning of life, called the region of shadows, is mentioned; and the world of the newborn, body language, mutuality, autonomy, the autistic anlage, and the right side of time are examined for the…

  14. Autoimmune Diseases in Parents of Children with Infantile Autism: A Case--Control Study

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben; Nedergaard, Niels Jorgen

    2007-01-01

    This register study compared the rates and types of autoimmune disease in the parents of 111 patients (82 males, 29 females; mean age at diagnosis 5y 5mo [SD 2y 6mo]) with infantile autism (IA) with a matched control group of parents of 330 children from the general population. All parents were screened through the nationwide Danish National…

  15. Molecular Correlates of Age-Dependent Seizures in an Inherited Neonatal-Infantile Epilepsy

    ERIC Educational Resources Information Center

    Liao, Yunxiang; Deprez, Liesbet; Maljevic, Snezana; Pitsch, Julika; Claes, Lieve; Hristova, Dimitrina; Jordanova, Albena; Ala-Mello, Sirpa; Bellan-Koch, Astrid; Blazevic, Dragica; Schubert, Simone; Thomas, Evan A.; Petrou, Steven; Becker, Albert J.; De Jonghe, Peter; Lerche, Holger

    2010-01-01

    Many idiopathic epilepsy syndromes have a characteristic age dependence, the underlying molecular mechanisms of which are largely unknown. Here we propose a mechanism that can explain that epileptic spells in benign familial neonatal-infantile seizures occur almost exclusively during the first days to months of life. Benign familial…

  16. Infantile hemangioendothelioma of the liver: a radiologic-pathologic-clinical correlation

    SciTech Connect

    Dachman, A.H.; Lichtenstein, J.E.; Friedman, A.C.; Hartman, D.S.

    1983-06-01

    Infantile hemangioendothelioma is the most common symptomatic vascular liver tumor of infancy. It is considered a benign tumor; however, aggressive behavior is occasionally seen microscopically, and rarely distant metastases have been reported. The exact incidence of infantile hemangioendothelioma is difficult to determine because often it has been either misdiagnosed or mislabeled as cavernous hemangioma in the literature. Cavernous hemangioma is the most common primary liver tumor in older age groups but is rarely found in infants as a clinically significant tumor. Levick and Rubie were the first to recognize an association between hemangioendothelioma of the liver and congestive heart failure, and there were subsequent reports substantiating this association. However, it is our impression and the finding of others that congestive heart failure is distinctly less common than abdominal mass or hepatomegaly as the presenting sign in infantile hemangioendothelioma. Congestive heart failure is rarely a feature of cavernous hemangioma. Because of the errors in terminology and questions regarding clinical presentation, a radiologic-pathologic-clinical correlation study of infantile hemangioendothelioma and review of the literature was undertaken.

  17. Phenotypical Characteristics of Idiopathic Infantile Nystagmus with and without Mutations in "FRMD7"

    ERIC Educational Resources Information Center

    Thomas, Shery; Proudlock, Frank A.; Sarvananthan, Nagini; Roberts, Eryl O.; Awan, Musarat; McLean, Rebecca; Surendran, Mylvaganam; Kumar, A. S. Anil; Farooq, Shegufta J.; Degg, Chris; Gale, Richard P.; Reinecke, Robert D.; Woodruff, Geoffrey; Langmann, Andrea; Lindner, Susanne; Jain, Sunila; Tarpey, Patrick; Raymond, F. Lucy; Gottlob, Irene

    2008-01-01

    Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene "FRMD7" (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye…

  18. Delayed-onset of multiple cutaneous infantile hemangiomas due to propranolol: a case report.

    PubMed

    Porcel Chacón, Rocío; del Boz González, Javier; Navarro Morón, Juan

    2015-04-01

    Infantile hemangiomas are the most common vascular tumors in childhood. In view of its proven effectiveness in such cases, propranolol is the drug of choice. We present the case of a male infant who started treatment with propranolol shortly after birth due to heart disease. After 7 months, when the patient had suffered various respiratory exacerbations, this treatment was suspended. One week later, multiple skin lesions (ie, multifocal infantile hemangiomas) began to appear, with no extracutaneous involvement. It was decided to resume treatment with propranolol, although at lower doses than before, and the skin lesions improved rapidly, with some disappearing completely. Treatment was definitively withdrawn at age 16 months, with only slight recurrence of the lesions. The case described is of multifocal infantile hemangiomas without extracutaneous involvement appearing beyond the neonatal period after treatment with propranolol beginning in the first days of life. The details of the case support the hypothesis that this drug is not only therapeutic but also plays a prophylactic role against infantile hemangiomas. In turn, this supports the recent proposal that this drug may be useful in preventing the growth and spread of tumors with high angiogenic potential. It is postulated that the inhibition of β-adrenergic receptors is associated with multiple intracellular processes related to the progression and metastasis of different tumors.

  19. Infantile Amnesia across the Years: A 2-Year Follow-Up of Children's Earliest Memories

    ERIC Educational Resources Information Center

    Peterson, Carole; Warren, Kelly L.; Short, Megan M.

    2011-01-01

    Although infantile amnesia has been investigated for many years in adults, only recently has it been investigated in children. This study was a 2-year follow-up and extension of an earlier study. Children (4-13 years old) were asked initially and 2 years later for their earliest 3 memories. At follow-up, their age at the time of these memories…

  20. On Human Symbiosis and the Vicissitudes of Individuation. Infantile Psychosis, Volume 1.

    ERIC Educational Resources Information Center

    Mahler, Margaret S.

    The concepts of symbiosis and separation-individuation are explained, and the symbiosis theory of infantile psychosis is presented. Diagnostic considerations and clinical cases of child psychosis are reviewed; prototypes of mother-child interaction are described; and therapy is discussed. A summary of the symbiosis theory and a bibliography of…

  1. De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

    PubMed Central

    Saitsu, Hirotomo; Akita, Tenpei; Tohyama, Jun; Goldberg-Stern, Hadassa; Kobayashi, Yu; Cohen, Roni; Kato, Mitsuhiro; Ohba, Chihiro; Miyatake, Satoko; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Fukuda, Atsuo; Matsumoto, Naomichi

    2015-01-01

    The voltage-gated Kv2.1 potassium channel encoded by KCNB1 produces the major delayed rectifier potassium current in pyramidal neurons. Recently, de novo heterozygous missense KCNB1 mutations have been identified in three patients with epileptic encephalopathy and a patient with neurodevelopmental disorder. However, the frequency of KCNB1 mutations in infantile epileptic patients and their effects on neuronal activity are yet unknown. We searched whole exome sequencing data of a total of 437 patients with infantile epilepsy, and found novel de novo heterozygous missense KCNB1 mutations in two patients showing psychomotor developmental delay and severe infantile generalized seizures with high-amplitude spike-and-wave electroencephalogram discharges. The mutation located in the channel voltage sensor (p.R306C) disrupted sensitivity and cooperativity of the sensor, while the mutation in the channel pore domain (p.G401R) selectively abolished endogenous Kv2 currents in transfected pyramidal neurons, indicating a dominant-negative effect. Both mutants inhibited repetitive neuronal firing through preventing production of deep interspike voltages. Thus KCNB1 mutations can be a rare genetic cause of infantile epilepsy, and insufficient firing of pyramidal neurons would disturb both development and stability of neuronal circuits, leading to the disease phenotypes. PMID:26477325

  2. Epidemiology of Infantile Autism in Southern Ibaraki, Japan: Differences in Prevalence in Birth Cohorts.

    ERIC Educational Resources Information Center

    Tanoue, Yoko; And Others

    1988-01-01

    Based on an observational study of children (ages 3-7) screened at a child guidance center in Japan, the prevalence rate of infantile autism in each one-year birth cohort (1972-1978) fluctuated in a four-year cycle which was closely correlated with the number of children hospitalized with lower respiratory tract diseases. (JW)

  3. Use of propranolol in infantile haemangiomas: report of five cases and review of the literature

    PubMed Central

    Gidaris, D; Economou, M; Hatzidemetriou, V; Gombakis, N; Athanassiou - Metaxa, M

    2011-01-01

    Infantile haemangiomas are common benign tumours that do not require treatment unless they cause significant functional impairment or disfigurement. We report our experience with the off-label use of propranolol in 5 children with haemangiomas and review the relevant literature. PMID:21607042

  4. Instantánea de los cánceres infantiles

    Cancer.gov

    Información sobre la incidencia y mortalidad del cáncer en los niños, tendencias en el financiamiento del NCI para la investigación del cáncer infantil; así como ejemplos de actividades y adelantos en la investigación relevantes para esta población.

  5. Cultural Changes and Psychopathology in Children: With Special Reference to Infantile Autism. Draft.

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The paper analyzes research regarding the effects of sociocultural factors and the incidence of mental illness, particularly infantile autism and childhood schizophrenia. Among those topics reviewed are general sociocultural changes and vital statistics, perceptual and cognitive potential of the neonate, the importance of family networks for…

  6. [CHEMOPERFUSION TECHNOLOGIES IN TREATMENT FOR MALIGNANT TUMORS].

    PubMed

    Belyaev, A M; Gafton, G I; Levchenko, E V; Karachun, A M; Gulyaev, A V; Senchik, K Yu; Bespalov, V G; Berlev, I V; Urmancheeva, A F; Guseinov, K D; Semiletova, Yu V; Mamontov, O N; Kalinin, P V; Kireeva, G S; Belyaeva, O A; Alexeev, V V

    2015-01-01

    The data of literature on possibility of the use of perfusion technologies in combined treatment for malignant tumors of different sites are presented. Possible complications during hyperthermic chemoperfusion are discussed and the effectiveness of this method is analyzed. PMID:26242165

  7. Isolated Malignant Melanoma Metastasis to the Pancreas

    PubMed Central

    Krag, Christen; Geertsen, Poul; Jakobsen, Linda P.

    2013-01-01

    Summary: Malignant melanomas rarely develop isolated pancreatic metastases. We describe a unique patient who is still alive 22 years following an isolated pancreatic melanoma metastasis, and we review the sparse literature in the field. PMID:25289269

  8. Improving vaccine efficacy against malignant glioma.

    PubMed

    Ladomersky, Erik; Genet, Matthew; Zhai, Lijie; Gritsina, Galina; Lauing, Kristen L; Lulla, Rishi R; Fangusaro, Jason; Lenzen, Alicia; Kumthekar, Priya; Raizer, Jeffrey J; Binder, David C; James, C David; Wainwright, Derek A

    2016-08-01

    The effective treatment of adult and pediatric malignant glioma is a significant clinical challenge. In adults, glioblastoma (GBM) accounts for the majority of malignant glioma diagnoses with a median survival of 14.6 mo. In children, malignant glioma accounts for 20% of primary CNS tumors with a median survival of less than 1 y. Here, we discuss vaccine treatment for children diagnosed with malignant glioma, through targeting EphA2, IL-13Rα2 and/or histone H3 K27M, while in adults, treatments with RINTEGA, Prophage Series G-100 and dendritic cells are explored. We conclude by proposing new strategies that are built on current vaccine technologies and improved upon with novel combinatorial approaches. PMID:27622066

  9. Hematologic malignancies during pregnancy: A review.

    PubMed

    Mahmoud, Hossam K; Samra, Mohamed A; Fathy, Gamal M

    2016-07-01

    Malignancy is the second most common cause of mortality in the reproductive period and it complicates up to one out of every 1000 pregnancies. When cancer is diagnosed during pregnancy, the management approach must take into consideration both the mother and her fetus. Hematologic cancers diagnosed in pregnancy are not common, resulting in paucity of randomized controlled trials. Diagnosis of such malignancies may be missed or delayed, as their symptoms are similar to those encountered during normal pregnancy. Also, many imaging studies may be hazardous during pregnancy. Management of these malignancies during pregnancy induces many treatment-related risks for mother and baby and should consider patient's preferences for pregnancy continuation. In this article, hematologic malignancies diagnosed in pregnant patients including acute leukemias, chronic myeloid leukemia, lymphomas, multiple myeloma and myeloproliferative neoplasms, will be reviewed, including diagnostic and management strategies and their impact on the pregnant patient and the developing fetus. PMID:27408762

  10. Duodenal stents for malignant duodenal strictures.

    PubMed Central

    Johnston, S. D.; McKelvey, S. T. D.; Moorehead, R. J.; Spence, R. A. J.; Tham, T. C. K.

    2002-01-01

    Duodenal obstruction may be caused by inoperable malignant disease. Symptoms of nausea and vomiting have been traditionally palliated by surgery. The aim of the study was to determine the efficacy of the endoscopic placement of metal self expanding duodenal stents for the palliation of malignant duodenal obstruction. Four patients with malignant gastric outlet obstruction are described. One patient had a history of oesophagectomy for oesophageal adenocarcinoma and presented with further dysphagia. At endoscopy the recurrent oesophageal tumour and an adenocarcinoma involving the pylorus were both stented. In the other three patients there was a previous history of colonic carcinoma, cholangiocarcinoma and oesophageal adenocarcinoma respectively. All four patients were successfully stented with good palliation of their symptoms. Duodenal Wallstents are a useful alternative to surgery in patients with inoperable malignant duodenal obstruction or those who are unfit for surgery. Images Fig 1 Fig 2 PMID:12137161

  11. The origin of malignant malaria.

    PubMed

    Rich, Stephen M; Leendertz, Fabian H; Xu, Guang; LeBreton, Matthew; Djoko, Cyrille F; Aminake, Makoah N; Takang, Eric E; Diffo, Joseph L D; Pike, Brian L; Rosenthal, Benjamin M; Formenty, Pierre; Boesch, Christophe; Ayala, Francisco J; Wolfe, Nathan D

    2009-09-01

    Plasmodium falciparum, the causative agent of malignant malaria, is among the most severe human infectious diseases. The closest known relative of P. falciparum is a chimpanzee parasite, Plasmodium reichenowi, of which one single isolate was previously known. The co-speciation hypothesis suggests that both parasites evolved separately from a common ancestor over the last 5-7 million years, in parallel with the divergence of their hosts, the hominin and chimpanzee lineages. Genetic analysis of eight new isolates of P. reichenowi, from wild and wild-born captive chimpanzees in Cameroon and Côte d'Ivoire, shows that P. reichenowi is a geographically widespread and genetically diverse chimpanzee parasite. The genetic lineage comprising the totality of global P. falciparum is fully included within the much broader genetic diversity of P. reichenowi. This finding is inconsistent with the co-speciation hypothesis. Phylogenetic analysis indicates that all extant P. falciparum populations originated from P. reichenowi, likely by a single host transfer, which may have occurred as early as 2-3 million years ago, or as recently as 10,000 years ago. The evolutionary history of this relationship may be explained by two critical genetic mutations. First, inactivation of the CMAH gene in the human lineage rendered human ancestors unable to generate the sialic acid Neu5Gc from its precursor Neu5Ac, and likely made humans resistant to P. reichenowi. More recently, mutations in the dominant invasion receptor EBA 175 in the P. falciparum lineage provided the parasite with preference for the overabundant Neu5Ac precursor, accounting for its extreme human pathogenicity.

  12. Malignant catarrhal fever: a review.

    PubMed

    Russell, George C; Stewart, James P; Haig, David M

    2009-03-01

    Malignant catarrhal fever (MCF) is a fatal lymphoproliferative disease of cattle and other ungulates caused by the ruminant gamma-herpesviruses alcelaphine herpesvirus 1 (AlHV-1) and ovine herpesvirus 2 (OvHV-2). These viruses cause inapparent infection in their reservoir hosts (wildebeest for AlHV-1 and sheep for OvHV-2), but fatal lymphoproliferative disease when they infect MCF-susceptible hosts, including cattle, deer, bison, water buffalo and pigs. MCF is an important disease wherever reservoir and MCF-susceptible species mix and currently is a particular problem in Bali cattle in Indonesia, bison in the USA and in pastoralist cattle herds in Eastern and Southern Africa. MCF is characterised by the accumulation of lymphocytes (predominantly CD8(+) T lymphocytes) in a variety of organs, often associated with tissue necrosis. Only a small proportion of these lymphocytes appear to contain virus, although recent results with virus gene-specific probes indicate that more infected cells may be present than previously thought. The tissue damage in MCF is hypothesised to be caused by the indiscriminate activity of MHC-unrestricted cytotoxic T/natural killer cells. The pathogenesis of MCF and the virus life cycle are poorly understood and, currently, there is no effective disease control. Recent sequencing of the OvHV-2 genome and construction of an AlHV-1 bacterial artificial chromosome (BAC) are facilitating studies to understand the pathogenesis of this extraordinary disease. Furthermore, new and improved methods of disease diagnosis have been developed and promising vaccine strategies are being tested. The next few years are likely to be exciting and productive for MCF research.

  13. Malignant rectal melanoma. Case report.

    PubMed

    Morlino, Andrea; La Torre, Giuseppe; Vitagliano, Giulia; Cammarota, Aldo

    2015-03-26

    Il Melanoma Anorettale è una malattia rara e aggressiva ed è il terzo tipo più comune di melanoma maligno dopo quello della cute e della retina. Il sintomo più comune è il sanguinamento rettale, che è spesso scambiato per sanguinamento associato a emorroidi. La diagnosi è molto difficile, e quella iniziale può essere corretta solo in circa 80% dei casi. Il caso clinico che proponiamo riguarda un uomo di 71 anni giunto alla nostra osservazione per dolore anale, tenesmo rettale, sanguinamento. L’eplorazione rettale ci ha mostrato una neofromazione dolorosa, di colorito brunastro nel canale anale. La colonscopia e la endoscopia hanno evidenziato la presenza di una grande massa stenotica interessante il canale anale ed il retto con un diametro di circa 90 mm. La biopsia è positiva per melanoma a cellule maligne pigmentate. La TAC ha mostrato un ispessimento della parete rettale e linfonodi nel tessuto adiposo, nel distretto otturatore bilaterale e metastasi polmonari bilaterali. Il dato di laboratorio del Ca 19-9 è nei livelli normali. Il paziente è stato sottoposto a resezione addomino-perineale con dissezione linfonodale. Non ci sono studi dimostranti che la resezione radicale del melanoma primario ano-rettale è associata ad un miglioramento del controllo locale e della sopravvivenza. I pazienti con malattia localizzata dovrebbero essere sottoposti a escissione locale ogniqualvolta ciò sia tecnicamente fattibile. Il ruolo predominante del trattamento chemio radioterapico preoperatorio è quello di ridurre le recidive locoregionale e della cavità pelvica, e per ottenere un più alto tasso di conservazione dell’apparato sfinteriale. Inoltre facilita la rimozione delle potenziali micrometastasi e riduce le metastasi a distanza.

  14. Radiological interventions in malignant biliary obstruction

    PubMed Central

    Madhusudhan, Kumble Seetharama; Gamanagatti, Shivanand; Srivastava, Deep Narayan; Gupta, Arun Kumar

    2016-01-01

    Malignant biliary obstruction is commonly caused by gall bladder carcinoma, cholangiocarcinoma and metastatic nodes. Percutaneous interventions play an important role in managing these patients. Biliary drainage, which forms the major bulk of radiological interventions, can be palliative in inoperable patients or pre-operative to improve liver function prior to surgery. Other interventions include cholecystostomy and radiofrequency ablation. We present here the indications, contraindications, technique and complications of the radiological interventions performed in patients with malignant biliary obstruction. PMID:27247718

  15. Malignant syphilis in an immunocompetent female patient*

    PubMed Central

    Requena, Camila Bueno; Orasmo, Cínthia Rosane; Ocanha, Juliana Polizel; Barraviera, Silvia Regina Catharino Sartore; Marques, Mariangela Esther Alencar; Marques, Silvio Alencar

    2014-01-01

    Malignant syphilis is an uncommon manifestation of secondary syphilis, in which necrotic lesions may be associated with systemic signs and symptoms. Generally it occurs in an immunosuppressed patient, mainly HIV-infected, but might be observed on those who have normal immune response. Since there is an exponential increase in the number of syphilis cases, more diagnoses of malignant syphilis must be expected. We report a case in an immunocompetent female patient. PMID:25387504

  16. Radiological interventions in malignant biliary obstruction.

    PubMed

    Madhusudhan, Kumble Seetharama; Gamanagatti, Shivanand; Srivastava, Deep Narayan; Gupta, Arun Kumar

    2016-05-28

    Malignant biliary obstruction is commonly caused by gall bladder carcinoma, cholangiocarcinoma and metastatic nodes. Percutaneous interventions play an important role in managing these patients. Biliary drainage, which forms the major bulk of radiological interventions, can be palliative in inoperable patients or pre-operative to improve liver function prior to surgery. Other interventions include cholecystostomy and radiofrequency ablation. We present here the indications, contraindications, technique and complications of the radiological interventions performed in patients with malignant biliary obstruction. PMID:27247718

  17. Malignant syphilis in an immunocompetent female patient.

    PubMed

    Requena, Camila Bueno; Orasmo, Cínthia Rosane; Ocanha, Juliana Polizel; Barraviera, Silvia Regina Catharino Sartore; Marques, Mariangela Esther Alencar; Marques, Silvio Alencar

    2014-01-01

    Malignant syphilis is an uncommon manifestation of secondary syphilis, in which necrotic lesions may be associated with systemic signs and symptoms. Generally it occurs in an immunosuppressed patient, mainly HIV-infected, but might be observed on those who have normal immune response. Since there is an exponential increase in the number of syphilis cases, more diagnoses of malignant syphilis must be expected. We report a case in an immunocompetent female patient. PMID:25387504

  18. Malignant tumors in an ancient Egyptian population.

    PubMed

    Zink, A; Rohrbach, H; Szeimies, U; Hagedorn, H G; Haas, C J; Weyss, C; Bachmeier, B; Nerlich, A G

    1999-01-01

    Since it is still an open debate whether malignant tumors are mainly influenced by environmental factors, the frequency of such malignant tumors in historic populations with different living conditions is of particular interest. In the present study, we investigated the occurrence of malignant tumors affecting bone tissue in a population of mumrnies and skeletons, which had been excavated from the large necropolis of Thebes-West, Upper Egypt. Our study material comprised a series of at least 415 individuals (thereof 325 adults) dating from approx. 1500-500 B.C. All individuals had been mummified, but were severely damaged and partially broken by grave robbers, so that often only parts of the mummies/skeletons were available for investigation. The available specimens were subjected to careful macroscopic examination, while isolated findings were radiologically analyzed. Using this approach, we identified at least 4 cases showing malignant tumors affecting the skeleton. In two cases, multiple mixed osteolytic-osteoblastic lesions suggested multiple metastases from carcinomas. Two further individuals presented with multiple osteolyses (vertebra, pelvis, skull) most suggestive of multiple myeloma. The observation of at least 4 cases of malignant tumors with osseous manifestation in a series of 325 adult individuals provides clear evidence that malignant tumors were not a rare event in the ancient Egyptian study population, particularly when the limitations of a study of tumors manifested only in osseous remnants are taken into consideration. A calculation of the age- and sex-adjusted tumor frequency in our material in comparison with a recent model for such a material by Waldron (1996) indicates that the rate of malignant tumors with bone affection in our series is higher than in an English population from 1901-1905, although lower than in a comparable present day population. This clearly indicates that important factors affecting malignant tumors were effective even

  19. Arterial Microcalcifications in the Breast Mimicking Malignancy

    PubMed Central

    Janzen, Katrin; Janzen, Jan

    2012-01-01

    Microcalcifications in the breast are highly suggestive of malignancy; they can occur in many pathological conditions. A 36-years-old nondiabetic woman came to the gynaecologist with a suspect palpable mass in the upper outer quadrant of the right breast. Histopathological examination confirmed a calcification of a small artery (diameter: 0.45 mm). Arterial calcifications can mimic a malignant lesion in the breast. PMID:22606570

  20. Parotid gland metastasis originating from malignant meningioma.

    PubMed

    Dmytriw, Adam A; Gullane, Patrick; Bartlett, Eric; Perez-Ordonez, Bayardo; Yu, Eugene

    2013-01-01

    A case of malignant meningioma with metastasis to the parotid gland is reported. A 60-year-old woman with right-sided neurological symptoms secondary to malignant meningioma developed bilateral parotid masses with identical histology to the primary lesion. The primary lesion was differentiated from a benign oligodendroma with MRI, and the radiological features of this extraordinarily rare metastasis are chronicled with MRI and computed tomography.

  1. CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).

    PubMed

    Kohlschütter, Alfried; Schulz, Angela

    2016-06-01

    CLN2 disease is an inherited metabolic storage disorder caused by the deficiency of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1). The disease affects mainly the brain and the retina and is characterized by progressive dysfunction of the central nervous system, leading to dementia, epilepsy, loss of motor function and blindness. The classical late infantile type begins at around three years of age with epilepsy and/or a standstill of psychomotor development, followed by a rapid loss of all abilities and death in childhood. A late onset form in a small proportion of patients starts at the age of 4 to 10 years, but also leads to severe neurological deterioration. The deficiency of TPP1 causes the lysosomal accumulation of a material called ceroid lipofuscin. The natural substrate of TPP1 is not known, nor is the connection between storage process and neurodegeneration, which is characterized by loss of neurons. Among various experimental approaches to treatment, enzyme replacement therapy (ERT) and gene therapy have developed remarkably. Enzyme delivery through the cerebrospinal fluid led to wide distribution of enzyme activity in the brain and to attenuated neuropathology and disease progression in a TPP1-deficient mouse model as well as in a natural TPP1-deficient dog model. Safety of the intrathecal delivery, pharmacokinetics, and tissue distribution of the administered enzyme studied in non-human primates were encouraging, and a phase I/II clinical trial for intraventricular ERT in CLN2 patients is ongoing. A second approach uses intracerebral injection of viral vectors containing normal coding segments of the CLN2 gene. In a CLN2 mouse model, this procedure resulted in cerebral enzyme expression, reduced brain pathology and increased survival. A small number of patients have been treated the same way using an AAV2-vector for gene transfer to the brain. Although there were no serious adverse events unequivocally attributable to the vector used, there were

  2. The Laser Treatment of Experimental Malignant Tumours

    PubMed Central

    McGuff, Paul E.; Deterling, Ralph A.; Gottlieb, Leonard S.; Fahimi, H. Dariush; Bushnell, David; Roeber, Fred

    1964-01-01

    Some of the results of experiments performed during the past two years to assess effects of laser energy on experimental malignant tumours are reviewed. Twenty types of malignant tumours (most in the cheek pouch and 11 of human origin) were treated in over 700 Syrian hamsters. Results of laser treatment of malignant melanomas and thyroidal carcinomas are presented. A human patient with malignant melanoma treated by laser energy is described. Investigation of thermal effect revealed that the laser-treated tumour remained warm for about one minute, while the cautery-treated tumour cooled to normal temperature in five seconds. Direct action of laser on superficial tumours is possible; deeper lesions must be exposed surgically. Laser energy has a selective effect on certain malignant tumours, resulting in their progressive regression and ultimate dissolution. All hamsters with implanted malignant melanomas and carcinomas of human origin, after completion of a course of laser treatment, showed no gross or histologic evidence of tumour up to the date of last observation. ImagesFig. 1Fig. 2aFig. 2bFig. 2cFig. 2dFig. 2eFig. 2fFig. 3Fig. 4aFig. 4bFig. 4cFig. 4dFig. 4eFig. 4fFig. 4gFig. 6 PMID:14229757

  3. Endoscopic treatment of malignant biliary strictures.

    PubMed

    Rustagi, Tarun; Jamidar, Priya A

    2015-01-01

    Endoscopic stenting is a widely accepted strategy for providing effective drainage in both extrahepatic and intrahepatic malignant strictures. In patients with extrahepatic malignancies, uncovered self-expanding metal stents (SEMS) provide excellent palliation. Hilar malignancies are probably best palliated by placement of uncovered SEMS although some disagreement exists among experts regarding the type and number of stents for optimal palliation. Preoperative biliary drainage (PBD) is commonly performed although a higher risk of complications and the lack of clear benefit raise questions about this practice. Certain groups of patients such as those with markedly elevated bilirubin levels, and in those in whom neoadjuvant therapy is planned, are good candidates for PBD. Considerable controversy exists regarding the optimal method as well as type of stent for PBD in patients with hilar malignancies. Novel endoscopic therapies, including photodynamic therapy and radiofrequency ablation, have emerged as potential adjuvant therapies in the management of malignant bile duct strictures but need further long-term evaluation to establish survival benefit. This review focuses on the current status of endoscopic therapies for malignant biliary obstructions.

  4. A Common Polymorphism within the IGF2 Imprinting Control Region Is Associated with Parent of Origin Specific Effects in Infantile Hemangiomas

    PubMed Central

    Schultz, Brent; Yao, Xiaopan; Deng, Yanhong; Waner, Milton; Spock, Christopher; Tom, Laura; Persing, John; Narayan, Deepak

    2015-01-01

    Infantile hemangioma (IH) is the most common tumor of the pediatric age group, affecting up to 4% of newborns ranging from inconsequential blemishes, to highly aggressive tumors. Following well defined growth phases (proliferative, plateau involutional) IH usually regress into a fibro-fatty residuum. Despite the high prevalence of IH, little is known regarding the pathogenesis of disease. A reported six fold decrease in IGF2 expression (correlating with transformation of proliferative to involuted lesions) prompted us to study the IGF-2 axis further. We demonstrate that IGF2 expression in IH is strongly related to the expression of a cancer testes and suspected oncogene BORIS (paralog of CTCF), placing IH in the unique category of being the first known benign BORIS positive tumor. IGF2 expression was strongly and positively related to BORIS transcript expression. Furthermore, a stronger association was made when comparing BORIS levels against the expression of CTCF via either a percentage or difference between the two. A common C/T polymorphism at CTCF BS6 appeared to modify the correlation between CTCF/BORIS and IGF2 expression in a parent of origin specific manner. Moreover, these effects may have phenotypic consequences as tumor growth also correlates with the genotype at CTCF BS6. This may provide a framework for explaining the clinical variability seen in IH and suggests new insights regarding CTCF and BORIS related functionality in both normal and malignant states. PMID:26496499

  5. Identification of new alternative splice events in the TCIRG1 gene in different human tissues

    SciTech Connect

    Smirnova, Anna S.; Morgun, Andrey . E-mail: anemorgun@hotmail.com; Shulzhenko, Natalia; Silva, Ismael D.C.G.; Gerbase-DeLima, Maria

    2005-05-13

    Two transcript variants (TV) of the T cell immune regulator gene 1 (TCIRG1) have already been characterized. TV1 encodes a subunit of the osteoclast vacuolar proton pump and TV2 encodes a T cell inhibitory receptor. Based on the search in dbEST, we validated by RT-PCR six new alternative splice events in TCIRG1 in most of the 28 human tissues studied. In addition, we observed that transcripts using the TV1 transcription start site and two splice forms previously described in a patient with infantile malignant osteopetrosis are also expressed in various tissues of healthy individuals. Studies of these nine splice forms in cytoplasmic RNA of peripheral blood mononuclear cells showed that at least six of them could be efficiently exported from the nucleus. Since various products with nearly ubiquitous tissue distribution are generated from TCIRG1, this gene may be involved in other processes besides immune response and bone resorption.

  6. Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal beta-oxidation enzyme proteins.

    PubMed

    Wanders, R J; Schutgens, R B; Schrakamp, G; van den Bosch, H; Tager, J M; Schram, A W; Hashimoto, T; Poll-Thé, B T; Saudubrau, J M

    1986-08-01

    In recent years a number of biochemical abnormalities have been described in patients with the infantile form of Refsum disease, including the accumulation of very long chain fatty acids, trihydroxycoprostanoic acid and pipecolic acid. In this paper we show that catalase-containing particles (peroxisomes), alkyl dihydroxyacetone phosphate synthase and acyl-CoA oxidase protein are deficient in patients with infantile Refsum disease. These findings suggest that in the infantile form of Refsum disease, as in the cerebro-hepato-renal (Zellweger) syndrome the multiplicity of biochemical abnormalities is due to a deficiency of peroxisomes and hence to a generalized loss of peroxisomal functions. As a consequence the infantile form of Refsum disease can be diagnosed biochemically by methods already available for the prenatal and postnatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome.

  7. Helicobacter pylori and Gastrointestinal Malignancies.

    PubMed

    Venerito, Marino; Vasapolli, Riccardo; Rokkas, Theodoros; Malfertheiner, Peter

    2015-09-01

    Helicobacter pylori infection is the principal trigger of gastric carcinogenesis and gastric cancer (GC) and remains the third leading cause of cancer-related death in both sexes worldwide. In a big Japanese study, the risk of developing GC in patients with peptic ulcer disease who received H. pylori eradication therapy and annual endoscopic surveillance for a mean of 9.9 years was significantly lower after successful eradication therapy compared to the group with persistent infection (0.21%/year and 0.45%/year, respectively, p = .049). According to a recent meta-analysis, H. pylori eradication is insufficient in GC risk reduction in subjects with advanced precancerous conditions (i.e., intestinal metaplasia and dysplasia). A microsimulation model suggested screening smokers over the age of 50 in the U.S. for serum pepsinogens. This would allow to detect advanced gastric atrophy with endoscopic follow-up of subjects testing positive as a cost-effective strategy to reduce GC mortality. In a Taiwanese study, the anti-H. pylori IgG-based test-and-treat program had lower incremental cost-effectiveness ratios than that with (13)C-urea breath test in both sexes to prevent GC whereas expected years of life lost for GC were higher and the incremental cost-effectiveness ratios of test-and-treat programs were more cost-effective in young adults (30-69 years old) than in elders (>70 years old). With respect to gastrointestinal malignancies other than GC, a meta-analysis confirmed the inverse association between H. pylori infection and esophageal adenocarcinoma. In a Finnish study, H. pylori seropositivity was associated with an increased risk of biliary tract cancers (multivariate adjusted OR 2.63; 95% CI: 1.08-6.37), another meta-analysis showed a slightly increased rate of pancreatic cancer in patients with CagA-negative strains (OR: 1.30; 95% CI: 1.02-1.65), whereas current data suggest that the association between H. pylori and colorectal neoplasms may be population

  8. Clonal genomic alterations in glioma malignancy stages.

    PubMed

    James, C D; Carlbom, E; Dumanski, J P; Hansen, M; Nordenskjold, M; Collins, V P; Cavenee, W K

    1988-10-01

    Comparison of constitutional and tumor genotypes at chromosomal loci defined by restriction fragment length alleles has proven useful in determining the genomic position and tissue specificity of recessive mutations that predispose to cancer (Hansen, M.F., and Cavenee, W.K. Cancer Res., 47:5518-5527, 1987). Here we have applied this approach to 53 unrelated patients with glial tumors of varying histological malignancy grade. Loss of constitutional heterozygosity for loci on chromosome 10 was observed in 28 of 29 tumors histologically classified as glioblastoma (malignancy grade IV) whereas no similar losses were observed in any of 22 gliomas of lower malignancy grade. Examination of restriction fragment length alleles on other chromosomes revealed that loss of sequences on chromosomes 13, 17, or 22 had occurred at nonrandom frequencies and in at least one instance of each malignancy grade of adult glioma. The tumors in which loss of constitutional heterozygosity was observed were composed of one or a mixture of glial cell subtypes displaying astrocytic, oligodendrocytic, and/or ependymal differentiation. These results demonstrate a close association of the loss of chromosome 10 sequences with the most malignant histological stage of glioma and that glioblastoma arises as the clonal expansion of an earlier staged precursor. Furthermore they suggest that glioblastoma is a common phenotypic and malignancy terminus for glial tumors of various cellular subtypes which is reached through a common molecular pathway. This approach which involves the identification of malignancy stage specific somatic losses of heterozygosity provides a genotypic, rather than phenotypic, analysis of tumor progression.

  9. Collecting and Storing Malignant, Borderline Malignant Neoplasms, and Related Samples From Young Patients With Cancer

    ClinicalTrials.gov

    2016-05-13

    Acute Undifferentiated Leukemia; Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative; Childhood Acute Lymphoblastic Leukemia; Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies; Childhood Chronic Myelogenous Leukemia; Chronic Lymphocytic Leukemia; Hairy Cell Leukemia; Juvenile Myelomonocytic Leukemia; Mast Cell Leukemia; Neoplasm of Uncertain Malignant Potential; Prolymphocytic Leukemia; Secondary Acute Myeloid Leukemia; T-cell Large Granular Lymphocyte Leukemia; Unspecified Childhood Solid Tumor, Protocol Specific

  10. Malignant skin lesions in Oshogbo, Nigeria

    PubMed Central

    Oseni, Ganiyu Oyediran; Olaitan, Peter Babatunde; Komolafe, Akinwumi Oluwole; Olaofe, Olaejirinde Olaniyi; Akinyemi, Hezekiah Adebola Morakinyo; Suleiman, Oreoluwa Adeola

    2015-01-01

    Introduction The aim of this study is to retrospectively assess the prevalence of some of skin malignancies in our environment and to provide a data base for creating awareness for prevention and early detection of the diseases in order to reduce morbidity and mortality associated with these skin lesions in our environment. Methods This is a retrospective study of all histologically diagnosed malignant skin lesions which presented at Ladoke Akintola University of Technology Teaching Hospital Osogbo Osun State between January 2006 and December 2010. Results Ninety- eight patients presented with skin cancers out of which 60 (61.2%)were males and 38 (38.8%) were females. Malignant melanoma ranked highest followed by squamous cell carcinoma, dermatofibrosarcoma and basal cell carcinoma in that order. Malignant melanoma affects male more than female and it commonly affects lower limbs. Conclusion Skin malignancies pose a burden to the economy of the country. Efforts should be directed toward prevention, early diagnosis and management in order to abolish or reduce morbidity, as well as mortality associated with late presentation of people in the developing countries. PMID:26161176

  11. Secondary Malignancy Risk Following Proton Radiation Therapy

    PubMed Central

    Eaton, Bree R.; MacDonald, Shannon M.; Yock, Torunn I.; Tarbell, Nancy J.

    2015-01-01

    Radiation-induced secondary malignancies are a significant, yet uncommon cause of morbidity and mortality among cancer survivors. Secondary malignancy risk is dependent upon multiple factors including patient age, the biological and genetic predisposition of the individual, the volume and location of tissue irradiated, and the dose of radiation received. Proton therapy (PRT) is an advanced particle therapy with unique dosimetric properties resulting in reduced entrance dose and minimal to no exit dose when compared with standard photon radiation therapy. Multiple dosimetric studies in varying cancer subtypes have demonstrated that PRT enables the delivery of adequate target volume coverage with reduced integral dose delivered to surrounding tissues, and modeling studies taking into account dosimetry and radiation cell biology have estimated a significantly reduced risk of radiation-induced secondary malignancy with PRT. Clinical data are emerging supporting the lower incidence of secondary malignancies after PRT compared with historical photon data, though longer follow-up in proton treated cohorts is awaited. This article reviews the current dosimetric and clinical literature evaluating the incidence of and risk factors associated with radiation-induced secondary malignancy following PRT. PMID:26636040

  12. Potentially malignant oral lesions: clinicopathological correlations

    PubMed Central

    Maia, Haline Cunha de Medeiros; Pinto, Najara Alcântara Sampaio; Pereira, Joabe dos Santos; de Medeiros, Ana Miryam Costa; da Silveira, Éricka Janine Dantas; Miguel, Márcia Cristina da Costa

    2016-01-01

    ABSTRACT Objective To determine the incidence of potentially malignant oral lesions, and evaluate and correlate their clinical and pathological aspects. Methods The sample consisted of cases clinically diagnosed as oral leukoplakia, oral erythroplakia, erythroleukoplakia, actinic cheilitis, and oral lichen planus treated at a diagnostic center, between May 2012 and July 2013. Statistical tests were conducted adopting a significance level of 5% (p≤0.05). Results Out of 340 patients, 106 (31.2%) had potentially malignant oral lesions; and 61 of these (17.9%) were submitted to biopsy. Actinic cheilitis was the most frequent lesion (37.5%) and the lower lip was the most affected site (49.6%). Among 106 patients in the sample, 48 (45.3%) reported nicotine consumption, 35 (33%) reported alcohol intake and 34 (32.1%) sun exposure while working. When clinical and histopathological diagnoses were compared, oral erythroplakia and atypical ulcer were the lesions that exhibited greater compatibility (100% each). Conclusion In most cases, clinical and histopathological diagnoses were compatible. An association between the occurrence of erythroplakia, leukoplakia and erythroleukoplakia with smoking was observed. Similarly, an association between actinic cheilitis and sun exposure was noted. Erythroleukoplakia presented the highest malignancy grade in this study. Finally, dental surgeons should draw special attention to diagnosis of potentially malignant oral lesions, choose the best management, and control the lesions to avoid their malignant transformation. PMID:27074232

  13. Asbestos exposure and malignant mesothelioma in Korea.

    PubMed

    Lee, Kyoung-Ho; Yoon, Hyung-Suk; Choi, Sang-Jun; Kang, Daehee

    2009-01-01

    Although importation of asbestos to Korea has decreased, there are growing concerns of its hazardous effects. This paper describes the use and occupational exposure to asbestos, and the incidence and mortality of malignant mesotheliomas in Korea. Asbestos raw material imports from other countries peaked between 1990 and 1995, but importation of asbestos-containing and -processed materials has steadily increased until now. A comprehensive exposure survey was conducted in Korea between 1995 and 2006. The average airborne asbestos concentration was lower than from other countries and steadily decreased during the study period. The number of malignant mesothelioma cases in Korea was 48 in 1998, 39 in 1999, 45 in 2000, 38 in 2001, and 46 in 2002. There were 334 deaths due to malignant mesothelioma and an average of 30.4 deaths per year between 1996 and 2006. The number of deaths attributed to malignant mesothelioma ranged from 16 cases in 1999 to 57 cases in 2006. The magnitude of asbestos-related health problems in Korea has been underestimated due to under-diagnosis, incomplete reports, and shorter duration of exposure. A nationwide surveillance system for asbestos exposure and malignant mesothelioma should therefore be implemented.

  14. Malignant thyroid tumors after iodine-131 therapy

    SciTech Connect

    Holm, L.E.; Dahlqvist, I.; Israelsson, A.; Lundell, G.

    1980-07-24

    We studied the incidence of malignant thyroid tumors after /sup 131/l therapy in 2727 patients with hyperthyroidism and in 273 euthyroid patients with cardiac disease. The patients were all adults, with a mean age of 57 years. The /sup 131/l therapy was given between 1951 and 1965. The mean follow-up period was 13 years for the hyperthyroid patients (15 years for the 85 per cent surviving for more than five years) and six years for the cardiac patients (12 years for the 41 per cent surviving for more than five years). The incidence of malignant thyroid tumors was based on a search of the Swedish Cancer Registry for the occurrence of such tumors in any of the 3000 patients. At present there is no increased incidence of malignant thyroid tumors after /sup 131/l therapy (four cases observed versus 3.2 cases expected).

  15. Conjunctival malignant melanoma in a horse.

    PubMed

    Moore, C.P.; Collins, B.K.; Linton, L.L.; Collier, L.L.

    2000-01-01

    A case of malignant melanoma originating from the conjunctiva of a horse is reported. The tumor exhibited locally aggressive behavior as evidenced clinically by recurrence following two treatment episodes including surgical excision on each occasion and one application of cryotherapy. The orbit was subsequently exenterated and histologically malignant conjunctival melanoma was confirmed. Histopathologic features included variable pigmentation with amelanotic sites demonstrating marked cellular and nuclear pleomorphism with high numbers of mitotic figures. Cords of neoplastic cells invaded the sclera and cornea. Following exenteration, the horse exhibited no recurrence of the tumor for five years before being lost to follow-up. To our knowledge, this is the first report of primary malignant conjunctival melanoma in a horse.

  16. Percutaneous Management of Malignant Biliary Obstruction.

    PubMed

    Sutter, Christopher M; Ryu, Robert K

    2015-12-01

    Malignancy resulting in impaired biliary drainage includes a number of diagnoses familiar to the interventional radiologist. Adequate drainage of such a system can significantly improve patient quality of life, and can facilitate the further treatment options and care of such patients. In the setting of prior instrumentation, cholangitis can present as an urgent indication for drainage. Current initial interventional management of malignant biliary duct obstruction frequently includes endoscopic or percutaneous intervention, with local practices and preprocedural imaging guiding interventional approaches and subsequent management. This article addresses the indications for percutaneous drainage, technical considerations in performing such drainage, and specific techniques useful in attempting to achieve clinical end points in patients with malignant biliary duct obstruction.

  17. Therapeutic bronchoscopic interventions for malignant airway obstruction

    PubMed Central

    Dalar, Levent; Özdemir, Cengiz; Abul, Yasin; Karasulu, Levent; Sökücü, Sinem Nedime; Akbaş, Ayşegül; Altın, Sedat

    2016-01-01

    Abstract There is no definitive consensus about the factors affecting the choice of interventional bronchoscopy in the management of malignant airway obstruction. The present study defines the choice of the interventional bronchoscopic modality and analyzes the factors influencing survival in patients with malignant central airway obstruction. Totally, over 7 years, 802 interventional rigid bronchoscopic procedures were applied in 547 patients having malignant airway obstruction. There was a significant association between the type of stent and the site of the lesion in the present study. Patients with tracheal involvement and/or involvement of the main bronchi had the worst prognosis. The sites of the lesion and endobronchial treatment modality were independent predictors of survival in the present study. The selection of different types of airway stents can be considered on the base of site of the lesion. Survival can be estimated based on the site of the lesion and endobronchial brochoscopic modality used. PMID:27281104

  18. Teriparatide treatment complicated by malignant myeloma

    PubMed Central

    Koski, Anna-Mari; Sikiö, Anu; Forslund, Terje

    2010-01-01

    Recombinant human parathyroid hormone (1–34) (rhPTH 1–34), teriparatide (Forsteo in Europe), is a new compound that has been introduced and shown to be successful in the treatment of osteoporosis. The mechanisms of action include a pulsative influence on the RANKL/OPG system resulting in osteoblast activation and increased bone formation by teriparatide. In malignant myeloma there is an imbalance between osteoclast and osteoblast activity with involvement of the RANKL/OPG system among others. We report a case with monoclonal gammopathy of uncertain significance (MGUS) who developed malignant myeloma after teriparatide treatment and we suggest that in addition to malignant myeloma and smouldering myeloma, MGUS should also be considered contraindicated for teriparatide treatment. PMID:22767690

  19. Malignant pilomatricoma in the parietal area.

    PubMed

    Kondo, Takeshi; Tanaka, Yoshio

    2006-01-01

    A 27-year-old Japanese woman presented with a 2.5-cm nodular subcutaneous lesion in the parietal area. The nodule was well demarcated and situated in the dermis and subcutis. Histologically, the tumor was diagnosed as malignant pilomatricoma. The tumor was excised, the postoperative course was uneventful, no evidence of local recurrence or distant metastasis was observed, and the patient continues to be under close follow-up. Malignant pilomatricoma, a locally aggressive counterpart of benign pilomatricoma, is also referred to as pilomatrix carcinoma. Most cases are excised as benign tumors; however, when the excision is incomplete local recurrence is likely, and distant metastases have also been reported. Histologically, the diagnosis can be challenging because no clear histologic criteria are available. Because of the rarity of malignant pilomatricoma, no welldefined standards in the surgical management of this neoplasm have been established. Moreover, since distant metastases have been described, close followup of the lesion is requisite.

  20. Tetanus immunity in patients with hematological malignancies.

    PubMed

    Hamarström, V; Pauksen, K; Svensson, H; Oberg, G; Paul, C; Ljungman, P

    1998-09-01

    The aim of this study was to investigate long-term immunity to tetanus toxoid among patients with hematological disease who had been treated with conventional doses of chemotherapy. Altogether 206 patients with different hematological malignancies were included in the study. There were marked differences between the rates of seronegativity against tetanus, varying from 20% to 70% in different groups of study patients. We found that 21 of 80 (36%) patients with AML, 45 of 80 (56%) with ALL, 12 of 22 (54%) with lymphoma, 4 of 13 (31%) with myeloma and 2 of 11 (18%) with CML were not immune to tetanus. In a multivariate logistic regression model increasing age (P = 0.0001), lymphoid malignancy (P = 0.0005) and advanced disease stage (P = 0.0001) were independent risk factors for loss of tetanus immunity in patients with hematological malignancies.

  1. Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation

    PubMed Central

    Beker-Acay, Mehtap; Elmas, Muhsin; Koken, Resit; Unlu, Ebru; Bukulmez, Aysegul

    2016-01-01

    Summary Background Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles. Case Report This report presents a 22-month-old girl with infantile type Sandhoff disease that was hospitalized for generalized seizures and psychomotor retardation. She was diagnosed with a genetically proven novel mutation and by demonstrating it’s specific imaging findings. Conclusions Determination of spesific changes in neuroimaging which are initial findings for GM2 gangliosidosis is important from the point of diagnosis and follow-up in infants suspected of having a neurodegenerative disease. PMID:26985245

  2. CD34-positive infantile myofibromatosis: Case report and review of hemangiopericytoma-like pattern tumors.

    PubMed

    Kiyohara, Takahiro; Maruta, Naoki; Iino, Shiro; Ido, Hideki; Tokuriki, Atsushi; Hasegawa, Minoru

    2016-09-01

    We describe a case of CD34-positive infantile myofibromatosis with hemangiopericytoma-like pattern. A 2-day-old Japanese boy presented with multiple hemispherical nodules on the extremities and back. There was a biphasic histological growth in the dermis, accompanied by a hemangiopericytoma-like pattern with antler-like branching vessels. Tumor cells were oval to spindle-shaped myoid cells with bland appearance. Immunohistochemically, vimentin, calponin and CD34 were positive, while α-smooth muscle actin, h-caldesmon, HHF35 and desmin were negative. Although CD34 was positive, the present case could be diagnosed as infantile myofibromatosis. Myopericytoma, myofibroma/myofibromatosis, glomus tumor, glomangiopericytoma and angioleiomyoma share a continuous spectrum of benign hemangiopericytoma-like pattern tumors. Myofibroma/myofibromatosis is nearly included in myopericytoma among pericytic (perivascular) tumors, and could be positive for CD34. Several immunohistochemical panels of smooth muscle markers are needed for the diagnosis of pericytic (perivascular) tumors.

  3. Infantile spinal muscular atrophy (morbus Werdnig-Hoffmann) causing neonatal asphyxia.

    PubMed

    Kyllerman, M

    1977-02-01

    A case of infantile spinal muscular atrophy (Werdnig-Hoffmann's disease) with complete proximal pareses obvious at birth giving rise to neonatal asphyxia is reported. Reduction of fetal movements was noted from the 32nd week of pregnancy. The infant was extremely floppy at birth and spontaneous movements were restricted to hands, feet and face. Fibrillations of the tongue, diaphragmatic hemiparesis and dysphagia were observed. Unassisted ventilation was not compatible with survival and the infant succumbed to the disease in the neonatal period. Muscle biopsy and autopsy confirmed the clinical diagnosis. Infantile spinal muscular atrophy causing neonatal asphyxia seems to be unusual and not earlier described. Constant muscular hypotonus in an asphyctic newborn should raise suspicion of a neuromuscular disorder.

  4. [Modern diagnostic approaches to malignant hyperthermia susceptibility].

    PubMed

    Kazantseva, A A; Lebedinskiĭ, K M

    2014-01-01

    Malignant hyperthermia is a well-known rare life-threatening autosomal-dominant pharmacogenetic disease, The arti- cle deals with a halothane-caffeine contracture test. The test is a model of muscle reaction to triggers in-vitro and it is the "golden standard" for malignant hyperthermia susceptibility (MHS) diagnosis. Genetic analysis is less invasive, but its sensitivity is significantly lower. The review discusses both the methods which are essential to be completely reproduced in Russia, and their role in modern approach to MHS diagnosis. PMID:25549489

  5. Malignant triton tumor (MTT) of the neck.

    PubMed

    Sørensen, Kristine Bjørndal; Godballe, Christian; Krogdahl, Annelise

    2006-03-01

    Malignant Triton Tumor (MTT) is a rare, malignant periphere nerve sheath tumor with rhabdomyoblastic differentiation. One third of described MTT's were located at the head and neck region. One third of these are associated with neurofibromatosis type 1. MTT most often appears in the third decade. MTT's are very aggressive tumors with early metastases and the overall survival is poor (26%). Therefore, early diagnosis and correct treatment is of utmost importance. We report a case of MTT of the left supraclavicular region in a 41-year-old man. We present the pathological findings, both light and immunohistochemically. PMID:16185834

  6. Endoscopic palliation of malignant biliary strictures

    PubMed Central

    Salgado, Sanjay M; Gaidhane, Monica; Kahaleh, Michel

    2016-01-01

    Malignant biliary strictures often present late after the window for curative resection has elapsed. In such patients, the goal of therapy is typically focused on palliation. While historically, palliative measures were performed surgically, the advent of endoscopic intervention offers minimally invasive options to provide relief of symptoms, improve quality of life, and in some cases, increase survival of these patients. Some of these therapies, such as endoscopic biliary decompression, have become mainstays of treatment for decades, whereas newer modalities, including radiofrequency ablation, and photodynamic therapy offer additional options for patients with incurable biliary malignancies. PMID:26989459

  7. Malignant transformation of orbital solitary fibrous tumor.

    PubMed

    Wang, Xiangning; Qian, Jiang; Bi, Yingwen; Ping, Bo; Zhang, Rui

    2013-06-01

    Orbital solitary fibrous tumor (SFT) is a rare tumor and may recur or undergo malignant transformation without complete excision. We present a case of orbital SFT which recurred twice and underwent malignant transformation. The patient was treated with en bloc excision via a lateral orbitotomy. The postoperative histopathologic diagnosis of this case was an adult fibrosarcoma. Postoperative adjuvant radiation therapy was given. In 18 months of further follow-up, there has been no evidence of recurrence, both clinically and in regular imaging studies.

  8. Multiple Familial Trichoepithelioma with Malignant Transformation

    PubMed Central

    Samaka, Rehab M; Bakry, Ola A; Seleit, Iman; Abdelwahed, Moshira M; Hassan, Rania A

    2013-01-01

    Trichoepithelioma (TE) is a benign tumor of follicular origin that presents as small, skin-colored papules predominantly on the face. When more than one family member is affected, the disease is known as multiple familial trichoepithelioma (MFT). It is a rare autosomal dominant (AD) skin disease. Malignant transformation is very rare. We present a case of MFT in a female patient and her father with malignant transformation to basal cell carcinoma (BCC) in the father. We summarized the main histological differential parameters between TE and BCC and applied immunophenotyping for both by administration of Bcl2, CD34, CD10 and androgen receptor (AR) antibodies. PMID:24082215

  9. [Malignant hemangioendothelioma associated with chronic pyothorax].

    PubMed

    Mita, Y; Dobashi, K; Saitoh, R; Tsuchiya, S; Nakano, H; Watanabe, S; Makimoto, T; Ishihara, S; Mori, M

    1997-06-01

    A 67-year-old man was admitted to the hospital because of a fever. A chest CT scan showed multilobular heterogeneous shadows on the right side in the chest wall and the lung, but clinical examinations and examination of a biopsy specimen did not lead to a diagnosis. At autopsy, a hemorrhagic tumor was found on the right side in the chest wall. Microscopical examination showed that large atypical cells had proliferated and formed vascular structures, which were stained positively with anti-factor VIII antibody. The histological findings led to the diagnosis of malignant hemangioendothelioma. Chronic empyema-associated malignant hemangioendothelioma is rare. PMID:9294300

  10. Giant metastasizing malignant hidradenoma in a child

    PubMed Central

    Bajaj, Sunil K; Misra, Ritu; Gupta, Rohini; Bansal, Anju

    2016-01-01

    An 8-year-old girl presented with a scalp swelling. The swelling was recurrent, reappearing everytime after local excision. She underwent surgery and the histopathologic diagnosis was malignant hidradenoma. This very rare and aggressive tumor is known to occur in elderly population and is histopathologically distinct from its commonly occuring benign counterpart. Malignant hidradenoma is resistant to chemotherapy and radiotherapy. We empahsize that being cognizant of the possibility of this rare tumor would assist in timely action in the form of wide resection, with possible reduction in morbidity and mortality. PMID:27730041

  11. Is metastatic pancreatic cancer an untargetable malignancy?

    PubMed Central

    Kourie, Hampig Raphael; Gharios, Joseph; Elkarak, Fadi; Antoun, Joelle; Ghosn, Marwan

    2016-01-01

    Metastatic pancreatic cancer (MPC) is one of the most aggressive malignancies, known to be chemo-resistant and have been recently considered resistant to some targeted therapies (TT). Erlotinib combined to gemcitabine is the only targeted therapy that showed an overall survival benefit in MPC. New targets and therapeutic approaches, based on new-TT, are actually being evaluated in MPC going from immunotherapy, epigenetics, tumor suppressor gene and oncogenes to stromal matrix regulators. We aim in this paper to present the major causes rendering MPC an untargetable malignancy and to focus on the new therapeutic modalities based on TT in MPC. PMID:26989465

  12. Malignant Melanoma Arising in Red Tattoo Ink

    PubMed Central

    Duff, Gerald; McKenna, Dermot; Regan, Padraic James

    2015-01-01

    We report the case of a 33-year-old male who presented with a malignant melanoma on his anterior chest wall. The lesion was only found in the red ink pigment of the tattoo, as were several in-transit dermal metastases. Possible explanations include a pre-existing lesion which was seeded with red ink or the possibility of the red ink causing an inflammatory reaction leading to malignant transformation. This is the first reported case of a melanoma developing in the red ink pigment of a multi-colored tattoo. PMID:26217569

  13. Malignant lymphoma of the head and neck.

    PubMed

    Zapater, E; Bagán, J V; Carbonell, F; Basterra, J

    2010-03-01

    Malignant lymphomas represent approximately 5% of all malignant neoplasms of the head and neck area. They are classically divided into two subgroups, Hodgkin's lymphomas (HLs) and non-Hodgkin's lymphomas (NHLs). We describe the clinical characteristics of head and neck lymphomas and the methods to establish the diagnosis. The World Health Organization classification of lymphoid tissues describes more than 50 different histological types, and we analyse the most common staging system for lymphomas, the Ann Arbor staging system. Finally, the different therapeutic approaches are discussed. PMID:20374502

  14. Malignant lymphomas involving the salivary glands.

    PubMed

    Colby, T V; Dorfman, R F

    1979-01-01

    Malignant lymphomas involving the salivary glands are probably more common than has been previously recognized. They must be differentiated from the benign lymphoepithelial lesion, although there may be an association between the two. The entire histologic spectrum of malignant lymphomas found at other sites can be seen in the salivary gland. In this study of 59 patients with lymphoma affecting the salivary gland, a large percentage were found to have disseminated disease. We recommend the same rigorous clinical evaluation and staging procedures as used in patients who present with primary lymph node involvement.

  15. Malignant mixed tumor of the lacrimal gland.

    PubMed

    Ludwig, M E; LiVolsi, V A; McMahon, R T

    1979-10-01

    This paper reports a case of carcinoma arising in a benign mixed tumor of lacrimal gland following multiple recurrences. The patient had eight recurrences of the benign lesion and after 32 years developed an adenocarcinoma associated with recurrent nodules of still recognizable benign mixed tumor. The literature on malignant mixed tumors of the lacrimal gland is reviewed noting the confusion in diagnostic terminology in early reports. Our patient illustrates the resemblance between malignant mixed tumor (carcinoma arising in pleomorphic adenoma) of lacrimal and salivary gland both clinically and pathologically.

  16. [The maternal effect in infantile autism: elevated DNA damage degree in patients and their mothers].

    PubMed

    Porokhovnik, L N; Kostyuk, S V; Ershova, E S; Stukalov, S M; Veiko, N N; Korovina, N Yu; Gorbachevskaya, N L; Sorokin, A B; Lyapunova, N A

    2016-05-01

    Infantile autism is a common disorder of mental development, which is characterized by impairments in the communicative, cognitive and speech spheres and obsessional stereotyped behaviour. Although in most cases, pathogenic factors remain unclear, infantile autism has a significant hereditary component, however, its etiology is also under the influence of environmental factors, including the condition of the mother's body during pregnancy ("maternal effect"). Oxidative stress is assumed to play a key role in the pathogenesis of infantile autism. It is known that oxidative stress has a prominent genotoxic effect, which is realized through inducing single and double strand breaks of the nuclear DNA. We evaluated the degree of DNA damage in patients with infantile autism and their mothers using DNA comet assay. The comet tail moment and DNA per cent ratio in the tail were assessed for each individual. The two parameters appeared to be strongly correlated (r=0.90). Mean and median values of both parameters were considerably higher in the sample of autistic children, than in age-matching healthy controls. Interestingly, these parameters were also elevated in healthy mothers of autistic children, with no difference from the values in the group of autistic children. The control group of healthy women of reproductive age, who had no children with autism, differed by the DNA comet tail moment from the group of mothers of autistic children, but did not differ significantly from the control group of healthy children. The results suggest that there are genotoxic factors in mentally healthy mothers of autistic children, which can determine the pathological process in the foeti via environmental "maternal effect" during gestation. PMID:27563002

  17. Topical timolol maleate 0.5% solution for the management of deep periocular infantile hemangiomas.

    PubMed

    Painter, Sally L; Hildebrand, Göran Darius

    2016-04-01

    This retrospective, consecutive, clinical case series examined the use of topical timolol in the treatment of 5 children with deep, periocular infantile hemangiomas that caused astigmatism, change in head posture, or ptosis. All patients were treated with timolol maleate solution 0.5% twice daily until the lesions had regressed. All 5 children showed regression of the lesion and improvement in amblyogenic risk factors within 2 weeks.

  18. Propranolol therapy for infantile hemangioma is less toxic but longer in duration than corticosteroid therapy

    PubMed Central

    Sawa, Kathryn; Yazdani, Arjang; Rieder, Michael J; Filler, Guido

    2014-01-01

    BACKGROUND: Infantile hemangioma is the most common benign, self-limiting tumour of childhood. Treatment is reserved for hemangiomas that obstruct vital structures or cause significant disfigurement. Traditionally, corticosteroids have been the medical treatment of choice. Since 2008, however, propranolol has been rapidly adopted as an effective pharmacological treatment for infantile hemangioma. Published data regarding the long-term side effects of propranolol are currently lacking. OBJECTIVE: To describe the long-term effects of propranolol and corticosteroids on anthropometric measurements (height, body mass index [BMI]) and blood pressure in children. METHODS: A prospective database analysis of all infantile hemangioma patient visits to the pediatric vascular abnormality clinic at the authors’ institution between October 2007 and February 2012 was performed. Anthropometric measures (height and BMI) and blood pressure were analyzed. RESULTS: A total of 290 visits (119 patients) to the pediatric vascular abnormality clinic were reviewed. Of these, 18 patients received medical treatment and their anthropometry was analyzed. BMI percentile increased significantly in patients treated with corticosteroids (P=0.0039). Corticosteroid treatment also resulted in a significant decrease in height percentile (P=0.0078). Anthropometric measures did not cross percentiles in children treated with propranolol. A significant decrease in systolic blood pressure was noted in the propranolol group (P=0.03), but no hypotensive values were recorded. Median treatment duration was significantly longer when patients received propranolol (372 versus 133 days; P=0.0033). CONCLUSION: Propranolol for the treatment of infantile vascular abnormalities does not share the unfavourable effects on patient anthropometry that corticosteroids exhibit; however, a longer duration of therapy is required. PMID:25535459

  19. Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013.

    PubMed

    Pavone, Piero; Striano, Pasquale; Falsaperla, Raffaele; Pavone, Lorenzo; Ruggieri, Martino

    2014-10-01

    The current spectrum of disorders associated to clinical spasms with onset in infancy is wider than previously thought; accordingly, its terminology has changed. Nowadays, the term Infantile spasms syndrome (ISs) defines an epileptic syndrome occurring in children younger than 1 year (rarely older than 2 years), with clinical (epileptic: i.e., associated to an epileptiform EEG) spasms usually occurring in clusters whose most characteristic EEG finding is hypsarrhythmia [the spasms are often associated with developmental arrest or regression]. The term West syndrome (WS) refers to a form (a subset) of ISs, characterised by the combination of clustered spasms and hypsarrhythmia on an EEG and delayed brain development or regression [currently, it is no longer required that delayed development occur before the onset of spasms]. Less usually, spasms may occur singly rather than in clusters [infantile spasms single-spasm variant (ISSV)], hypsarrhythmia can be (incidentally) recorded without any evidence of clinical spasms [hypsarrhythmia without infantile spasms (HWIS)] or typical clinical spasms may manifest in absence of hypsarrhythmia [infantile spasms without hypsarrhythmia (ISW)]. There is a growing evidence that ISs and related phenotypes may result, besides from acquired events, from disturbances in key genetic pathways of brain development: specifically, in the gene regulatory network of GABAergic forebrain dorsal-ventral development, and abnormalities in molecules expressed at the synapse. Children with these genetic associations also have phenotypes beyond epilepsy, including dysmorphic features, autism, movement disorders and systemic malformations. The prognosis depends on: (a) the cause, which gives origin to the attacks (the complex malformation forms being more severe); (b) the EEG pattern(s); (c) the appearance of seizures prior to the spasms; and (d) the rapid response to treatment. Currently, the first-line treatment includes the adrenocorticotropic

  20. Benign Nerve Sheath Myxoma in an Infant Misdiagnosed as Infantile Digital Fibromatosis.

    PubMed

    Güngör, Şule; Şişman, Servet; Kocaturk, Emek; Oguz Topal, Ilteris; Yıldırım, Selda

    2016-07-01

    Herein we present the case of a 16-month boy, clinically diagnosed with infantile digital fibromatosis, but 9 months after continued growth, the mass was excised and the histopathologic diagnosis was that of a benign nerve sheath myxoma. We present this case to emphasize that nerve sheath myxomas (also known as myxoid neurothekeoma) should be included in the differential diagnosis of dermal nodules in infants. PMID:27196676

  1. The early electroclinical manifestations of infantile spasms: A video EEG study

    PubMed Central

    Iype, Mary; Kunju, Puthuvathra Abdul Mohammed; Saradakutty, Geetha; Mohan, Devi; Khan, Shahanaz Ahamed Mohammed

    2016-01-01

    Purpose: Infantile spasms are described as flexor extensor and mixed; but more features of their semiology and ictal electroencephalography (EEG) changes are sparse in the literature. The purpose of the study was to describe the clinical and ictal video-EEG characteristics of consecutive cases with infantile spasms and to try to find an association with the etiology. Materials and Methods: The clinical phenomenology and EEG characteristics on video-EEG were analyzed in 16 babies with infantile spasms. Results: A total of 869 spasms were reviewed. Nine (56.3%) showed focal seizures at least once during the recording and 1 (6.3%) had multifocal myoclonus in addition to the spasms. The duration of the cluster and interval between spasms was totally variable in all patients. Lateralizing phenomena were present in at least some of the spasms in all patients. Unilateral manual automatism in the form of holding the pinna was noted in three patients following the spasm. The ictal EEG activity in the majority (75%) was the slow wave. Four (25%) showed fast generalized spindle-like ictal discharges. Spikes, spike and wave activity, or electrodecremental pattern alone during the ictus was seen in none. On bivariate analysis, no factor noted on the video EEG had association with the etiology. Conclusion: Infantile spasms could be associated with focal and other seizures, has unique, non-uniform and variable semiology from patient to patient. The ictal EEG manifestation in the majority (75%) of our patients was the slow wave transient with 25% showing generalized fast spindle-like activity. PMID:27011629

  2. Ultrastructural study of benign, low-malignant potential (LMP), and malignant ovarian tumors.

    PubMed

    Ishioka, Shin-ichi; Sagae, Satoru; Ito, Eiki; Kudo, Ryuichi

    2004-03-01

    Ultrastructural characteristics of benign, low-malignant potential (LMP), and malignant ovarian tumors were investigated, considering the aspects of histologic subtypes and histologic grading. In addition, the histogenesis of ovarian cancer was histologically investigated in an attempt to elucidate whether malignant tumor was generated from benign or LMP tumor, or whether it was generated de novo from normal tissues. Although all the benign, LMP, and malignant tumors appeared to be derived from Mullerian duct in serous tumors, the origin of endometrioid or mucinous tumor could not be ultrastructurally clarified. However, there was ultrastructural similarity between benign and malignant tumors among serous, endometrioid, and mucinous tumors, and it was suggested that benign adenoma may be the developmental origin of malignant tumors regardless of the histologic subtype. In addition, the investigation of endometrioid tumors revealed that the differences of histologic grading in malignant tumors reflected the ultrastructural differences, and that G1 tumor had an ultrastructure that was more similar to that of benign and LMP tumors than to that of G2 tumor.

  3. Cow's milk formula as a cause of infantile colic: a double-blind study.

    PubMed

    Lothe, L; Lindberg, T; Jakobsson, I

    1982-07-01

    The role of cow's milk in infantile colic in formula-fed infants was estimated in a double-blind study. Sixty colicky infants were given a cow's milk-containing formula (Enfamil) and a cow's milk-free formula based on soy (ProSobee). Eleven infants (18%) were free of symptoms while receiving soy formula. Symptoms of 32 infants (53%) were unchanged or worse when they were fed cow's milk formula and soy formula, but symptoms disappeared when they were fed a formula containing hydrolyzed casein (Nutramigen). Symptoms of 17 infants (29%) could not be related to the diet; these infants were permitted to continue on a cow's milk-based formula. A challenge with cow's milk-based formula after one month (at approximately age 3 months) produced symptoms of infantile colic in 22 infants (36%). At age 6 months, a challenge with cow's milk was positive in 11 infants (18%) with epidermal and gastrointestinal symptoms. Eight infants (13%) at 12 months of age and five infants (8%) at 16 months of age were still intolerant to cow's milk. Cow's milk seems to be a major cause of infantile colic in formula-fed infants. A dietary treatment is suggested for moderate or severe forms of the colic. Cow's milk protein intolerance is common later in infancy in these infants.

  4. Use of the modified Atkins diet in infantile spasms refractory to first-line treatment.

    PubMed

    Sharma, Suvasini; Sankhyan, Naveen; Gulati, Sheffali; Agarwala, Anuja

    2012-01-01

    This prospective, open label, uncontrolled study was performed to evaluate the efficacy and tolerability of the modified Atkins diet in children with refractory infantile spasms. Fifteen consecutive children aged six months to three years having daily infantile spasms in clusters with electroencephalographic evidence of hypsarrhythmia despite treatment with hormonal treatment (oral corticosteroids/adrenocorticotrophic hormone) and/or vigabatrin, and at least one additional anti-epileptic drug were enrolled. Children with known or suspected inborn errors of metabolism or systemic illnesses were excluded. Carbohydrate intake was restricted to ten grams/day. Among these 12 boys and three girls (median age-24 months), 13 had symptomatic etiology. After three months of diet, six children were spasm free. The time to spasm freedom after diet initiation ranged from two days to two months. The most frequent adverse effect observed was constipation. The modified Atkins diet was found to be effective and well tolerated in children with refractory infantile spasms (ClinicalTrials.gov identifier: NCT01006811).

  5. [Towards an integrated approach to infantile autism: the superior temporal lobe between neurosciences and psychoanalysis].

    PubMed

    Golse, Bernard; Robel, Laurence

    2009-02-01

    The superior temporal lobe is currently at the focus of intensive research in infantile autism, a psychopathologic disorder apparently representing the severest failure of access to intersubjectivity, i.e. the ability to accept that others exist independently of oneself. Access to intersubjectivity seems to involve the superior temporal lobe, which is the seat of several relevant functions such as face and voice recognition and perception of others' movements, and coordinates the different sensory inputs that identify an object as being "external". The psychoanalytic approach to infantile autism and recent cognitive data are now converging, and intersubjectivity is considered to result from "mantling" or comodalization of sensory inputs from external objects. Recent brain neuroimaging studies point to anatomic and functional abnormalities of the superior temporal lobe in autistic children. Dialogue is therefore possible between these different disciplines, opening the way to an integrated view of infantile autism in which the superior temporal lobe holds a central place--not necessarily as a primary cause of autism but rather as an intermediary or a reflection of autistic functioning

  6. WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease

    PubMed Central

    Vodopiutz, Julia; Seidl, Rainer; Prayer, Daniela; Khan, M. Imran; Mayr, Johannes A.; Streubel, Berthold; Steiß, Jens-Oliver; Hahn, Andreas; Csaicsich, Dagmar; Castro, Christel; Assoum, Mirna; Müller, Thomas; Wieczorek, Dagmar; Mancini, Grazia M. S.; Sadowski, Carolin E.; Levy, Nicolas; Mégarbané, André; Godbole, Koumudi; Schanze, Denny; Hildebrandt, Friedhelm; Delague, Valérie; Janecke, Andreas R.; Zenker, Martin

    2015-01-01

    Infantile-onset cerebellar atrophy (CA) is a clinically and genetically heterogeneous trait. Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome. Very recently, WDR73 deficiency was identified as the cause of GMS in five individuals. To evaluate the role of WDR73 mutations as a cause of GMS and other forms of syndromic CA, we performed Sanger or exome sequencing in 51 unrelated patients with CA and variable brain anomalies and in 40 unrelated patients with a diagnosis of GMS. We identified 10 patients from three CA and from two GMS families with WDR73 mutations including the original family described with CA, mental retardation, optic atrophy and skin abnormalities (CAMOS). There were five novel mutations, of which two were truncating and three were missense mutations affecting highly conserved residues. Individuals carrying homozygous WDR73 mutations mainly presented with a pattern of neurological and neuroimaging findings as well as intellectual disability, while kidney involvement was variable. We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration. PMID:26123727

  7. Impaired Neovascularization and Reduced Capillary Supply in the Malignant vs. Non-malignant Course of Experimental Renovascular Hypertension

    PubMed Central

    Hartner, Andrea; Jagusch, Lisa; Cordasic, Nada; Amann, Kerstin; Veelken, Roland; Jacobi, Johannes; Hilgers, Karl F.

    2016-01-01

    Malignant hypertension develops in some cases of hypertension but not in others. We hypothesized that an impaired neovascularization and a reduced capillary supply characterizes the malignant course of experimental hypertension. Two-kidney, one-clip renovascular hypertension was induced in rats; controls (sham) were sham operated. To distinguish malignant hypertension from non-malignant hypertension, we considered two factors: weight loss, and the number of typical vascular lesions (onion skin lesions and fibrinoid necroses) per kidney section of the nonclipped kidney. Animals in the upper half for both criteria were defined as malignant hypertensives. After 5 weeks, mean arterial blood pressure was elevated to the same degree in malignant hypertension and non-malignant hypertension whereas plasma renin and aldosterone were significantly higher in malignant hypertensives. The expression of plasminogen activator inhibitor-1 was elevated (up to 14-fold) in non-malignant but significantly more increased (up to 36-fold) in malignant hypertensive rats, compared to sham. As a bioassay for neovascularization, the area of granulation tissue ingrowth in polyvinyl discs (implanted subcutaneously) was reduced in malignant hypertension compared to non-malignant hypertension and sham, while there was no difference between non-malignant hypertension and sham. The number of renal and left ventricular capillaries was significantly lower in malignant hypertension compared to non-malignant hypertension, as was the number of proliferating endothelial cells. We conclude that an impaired neovascularization and capillarization occurs in malignant renovascular hypertension but not in the non-malignant course of the disease despite comparable blood pressure levels. This might contribute to the unique vascular lesions and progressive target organ damage observed in malignant hypertension. PMID:27625610

  8. Impaired Neovascularization and Reduced Capillary Supply in the Malignant vs. Non-malignant Course of Experimental Renovascular Hypertension

    PubMed Central

    Hartner, Andrea; Jagusch, Lisa; Cordasic, Nada; Amann, Kerstin; Veelken, Roland; Jacobi, Johannes; Hilgers, Karl F.

    2016-01-01

    Malignant hypertension develops in some cases of hypertension but not in others. We hypothesized that an impaired neovascularization and a reduced capillary supply characterizes the malignant course of experimental hypertension. Two-kidney, one-clip renovascular hypertension was induced in rats; controls (sham) were sham operated. To distinguish malignant hypertension from non-malignant hypertension, we considered two factors: weight loss, and the number of typical vascular lesions (onion skin lesions and fibrinoid necroses) per kidney section of the nonclipped kidney. Animals in the upper half for both criteria were defined as malignant hypertensives. After 5 weeks, mean arterial blood pressure was elevated to the same degree in malignant hypertension and non-malignant hypertension whereas plasma renin and aldosterone were significantly higher in malignant hypertensives. The expression of plasminogen activator inhibitor-1 was elevated (up to 14-fold) in non-malignant but significantly more increased (up to 36-fold) in malignant hypertensive rats, compared to sham. As a bioassay for neovascularization, the area of granulation tissue ingrowth in polyvinyl discs (implanted subcutaneously) was reduced in malignant hypertension compared to non-malignant hypertension and sham, while there was no difference between non-malignant hypertension and sham. The number of renal and left ventricular capillaries was significantly lower in malignant hypertension compared to non-malignant hypertension, as was the number of proliferating endothelial cells. We conclude that an impaired neovascularization and capillarization occurs in malignant renovascular hypertension but not in the non-malignant course of the disease despite comparable blood pressure levels. This might contribute to the unique vascular lesions and progressive target organ damage observed in malignant hypertension.

  9. Impaired Neovascularization and Reduced Capillary Supply in the Malignant vs. Non-malignant Course of Experimental Renovascular Hypertension.

    PubMed

    Hartner, Andrea; Jagusch, Lisa; Cordasic, Nada; Amann, Kerstin; Veelken, Roland; Jacobi, Johannes; Hilgers, Karl F

    2016-01-01

    Malignant hypertension develops in some cases of hypertension but not in others. We hypothesized that an impaired neovascularization and a reduced capillary supply characterizes the malignant course of experimental hypertension. Two-kidney, one-clip renovascular hypertension was induced in rats; controls (sham) were sham operated. To distinguish malignant hypertension from non-malignant hypertension, we considered two factors: weight loss, and the number of typical vascular lesions (onion skin lesions and fibrinoid necroses) per kidney section of the nonclipped kidney. Animals in the upper half for both criteria were defined as malignant hypertensives. After 5 weeks, mean arterial blood pressure was elevated to the same degree in malignant hypertension and non-malignant hypertension whereas plasma renin and aldosterone were significantly higher in malignant hypertensives. The expression of plasminogen activator inhibitor-1 was elevated (up to 14-fold) in non-malignant but significantly more increased (up to 36-fold) in malignant hypertensive rats, compared to sham. As a bioassay for neovascularization, the area of granulation tissue ingrowth in polyvinyl discs (implanted subcutaneously) was reduced in malignant hypertension compared to non-malignant hypertension and sham, while there was no difference between non-malignant hypertension and sham. The number of renal and left ventricular capillaries was significantly lower in malignant hypertension compared to non-malignant hypertension, as was the number of proliferating endothelial cells. We conclude that an impaired neovascularization and capillarization occurs in malignant renovascular hypertension but not in the non-malignant course of the disease despite comparable blood pressure levels. This might contribute to the unique vascular lesions and progressive target organ damage observed in malignant hypertension. PMID:27625610

  10. Hyperparathyroidism After Irradiation for Childhood Malignancy

    SciTech Connect

    McMullen, Todd; Bodie, Greg; Gill, Anthony; Ihre-Lundgren, Catharina; Shun, Albert; Bergin, Mary; Stevens, Graham; Delbridge, Leigh

    2009-03-15

    Purpose: To examine the occurrence of hyperparathyroidism in a cohort of patients undergoing combined parathyroid and thyroid surgery after previous head-and-neck irradiation for childhood malignancy. Methods and Materials: This is a retrospective cohort study for the years 1996 to 2007. The study group comprised patients undergoing surgery in University of Sydney Endocrine Surgical Unit who had received previous head-and-neck irradiation in childhood and who were identified as having pathologic thyroid and parathyroid characteristics. Results: A total of 53 patients were identified in whom head-and-neck irradiation for the treatment of childhood malignancy had been documented. In each of the cases, thyroid disease was the primary reason for referral for surgery. Five of these patients (10%) were found to exhibit coexisting hyperparathyroidism. The latency period for hyperparathyroidism was less than 20 years in 4 of the 5 cases. There were four conventional parathyroid adenomas and one parathyroid lipoadenoma. All patients exhibited a significant decrease in postoperative calcium levels after surgery. Conclusions: To our knowledge, this is the first study to document the significant risk of hyperparathyroidism after radiation exposure for childhood malignancy. The timeframe for development of disease is much shorter than that published for individuals who have undergone irradiation for benign diseases. High doses of therapeutic radiation at a young age make childhood survivors of malignancy at especially high risk for developing hyperparathyroidism.

  11. Extracorporeal Irradiation in Malignant Bone Tumors.

    PubMed

    Bhandari, R B; Jha, A K; Neupane, P; Chaurasia, P P; Sigdel, A

    2015-01-01

    Extracorporeal irradiation (ECI) is relatively a rare method used in the management of malignant bone tumors (MBT). It consists of en block removal of the tumor bearing bone segment, removal of the tumor from the bone, irradiation and re implantation back in the body. PMID:27549504

  12. Malignant Solitary Fibrous Tumor of the Pancreas.

    PubMed

    Estrella, Jeannelyn S; Wang, Huamin; Bhosale, Priya R; Evans, Harry L; Abraham, Susan C

    2015-08-01

    Solitary fibrous tumor (SFT) arising in the pancreas is exceedingly rare, with only 11 cases reported in the English literature. All cases described thus far have exhibited benign histology. We report the first case of malignant SFT of the pancreas. The patient was a 52-year-old woman who presented with obstructive jaundice and a 15-cm pancreatic head mass. The mass showed areas with typical histologic features for SFT including small fibroblastlike cells arranged in the well-characterized "patternless pattern" of architecture, hemangiopericytomalike vessels, areas with dense collagen and infrequent mitoses (0-2 per 10 high-power fields [HPFs]). In addition, multiple areas with an overtly sarcomatous morphology were present, containing large spindle and epithelioid cells with nuclear pleomorphism, marked cellularity, up to17 mitoses per 10 HPFs, and necrosis. Immunohistochemical stains were positive for CD34 and B-cell CLL/lymphoma 2 (Bcl-2) in both benign and malignant components and showed strong, diffuse p53 and p16 staining in the malignant component. At last follow-up (40 months), the patient was alive and well without evidence of disease. However, given that the presence of a malignant component in extrapancreatic SFT has been associated with recurrence/metastasis and death, complete surgical resection and close long-term follow-up is required.

  13. Common electrolyte imbalances associated with malignancy.

    PubMed

    Hawthorne, J L; Schneider, S M; Workman, M L

    1992-08-01

    More than one million Americans will be diagnosed with cancer during 1992, and 50% will be cured of their disease. Of those individuals not cured of the malignancy, survival time after diagnosis has increased tremendously compared to 1980. Because of advances in therapy and the increase in long-term survival, the presence of cancer patients in critical care units should no longer represent either a medical contradiction or an ethical dilemma when the condition requiring critical care is potentially reversible. Many of these individuals may become patients in critical care settings as a result of specific electrolyte imbalances caused by the malignant disease or treatment of malignancy. Although the imbalances often are temporary, they can be life-threatening without intervention. The most common temporary electrolyte imbalances associated with malignant conditions are hypercalcemia, hyperkalemia, and tumor lysis syndrome. Critical care nurses can contribute skill and knowledge in ameliorating these conditions so that the person with cancer can have better quality and longer survival time.

  14. MicroRNAs in Myeloid Hematological Malignancies

    PubMed Central

    Ciccone, Maria; Calin, George Adrian

    2015-01-01

    MicroRNAs are 19-24 nucleotides noncoding RNAs which silence modulate the expression of target genes by binding to the messenger RNAs. Myeloid malignancies include a broad spectrum of acute and chronic disorders originating from from the clonal transformation of a hematopoietic stem cell. Specific genetic abnormalities may define myeloid malignancies, such as translocation t(9;22) that represent the hallmark of chronic myeloid leukemia. Although next-generation sequencing pro-vided new insights in the genetic characterization and pathogenesis of myeloid neoplasms, the molecular mechanisms underlying myeloid neoplasms are lacking in most cases. Recently, several studies have demonstrated that the expression levels of specific miRNAs may vary among patients with myeloid malignancies compared with healthy individuals and partially unveiled how miRNAs participate in the leukemic transformation process. Finally, in vitro experiments and pre-clinical model provided preliminary data of the safety and efficacy of miRNA inhibitory molecules, opening new avenue in the treatment of myeloid hematological malignancies. PMID:27047254

  15. Malignant biliary obstruction: From palliation to treatment.

    PubMed

    Boulay, Brian R; Birg, Aleksandr

    2016-06-15

    Malignant obstruction of the bile duct from cholangiocarcinoma, pancreatic adenocarcinoma, or other tumors is a common problem which may cause debilitating symptoms and increase the risk of subsequent surgery. The optimal treatment - including the decision whether to treat prior to resection - depends on the type of malignancy, as well as the stage of disease. Preoperative biliary drainage is generally discouraged due to the risk of infectious complications, though some situations may benefit. Patients who require neoadjuvant therapy will require decompression for the prolonged period until attempted surgical cure. For pancreatic cancer patients, self-expanding metallic stents are superior to plastic stents for achieving lasting decompression without stent occlusion. For cholangiocarcinoma patients, treatment with percutaneous methods or nasobiliary drainage may be superior to endoscopic stent placement, with less risk of infectious complications or failure. For patients of either malignancy who have advanced disease with palliative goals only, the choice of stent for endoscopic decompression depends on estimated survival, with plastic stents favored for survival of < 4 mo. New endoscopic techniques may actually extend stent patency and patient survival for these patients by achieving local control of the obstructing tumor. Both photodynamic therapy and radiofrequency ablation may play a role in extending survival of patients with malignant biliary obstruction.

  16. Malignant Solitary Fibrous Tumor of the Pancreas.

    PubMed

    Estrella, Jeannelyn S; Wang, Huamin; Bhosale, Priya R; Evans, Harry L; Abraham, Susan C

    2015-08-01

    Solitary fibrous tumor (SFT) arising in the pancreas is exceedingly rare, with only 11 cases reported in the English literature. All cases described thus far have exhibited benign histology. We report the first case of malignant SFT of the pancreas. The patient was a 52-year-old woman who presented with obstructive jaundice and a 15-cm pancreatic head mass. The mass showed areas with typical histologic features for SFT including small fibroblastlike cells arranged in the well-characterized "patternless pattern" of architecture, hemangiopericytomalike vessels, areas with dense collagen and infrequent mitoses (0-2 per 10 high-power fields [HPFs]). In addition, multiple areas with an overtly sarcomatous morphology were present, containing large spindle and epithelioid cells with nuclear pleomorphism, marked cellularity, up to17 mitoses per 10 HPFs, and necrosis. Immunohistochemical stains were positive for CD34 and B-cell CLL/lymphoma 2 (Bcl-2) in both benign and malignant components and showed strong, diffuse p53 and p16 staining in the malignant component. At last follow-up (40 months), the patient was alive and well without evidence of disease. However, given that the presence of a malignant component in extrapancreatic SFT has been associated with recurrence/metastasis and death, complete surgical resection and close long-term follow-up is required. PMID:26166470

  17. [Primary malignant melanoma of the vagina].

    PubMed

    Lomeo, A M; Iacobellis, G; Martoccia, G; Manzione, L; De Sanctis, D; Maglietta, R; Vita, G

    1993-03-01

    We report two cases of primary malignant melanoma of the vagina explaining the essential clinical pathological and therapeutic features. They themselves, added those represented in literature, might constitute a further contribution to best definition of the unusual genital pathology, especially as regards prognostic and therapeutic aspects.

  18. Malignant Hyperthermia Association of the United States

    MedlinePlus

    ... Videos Blog Get Involved Shop Ask a question right here... MHAUS On Facebook Now view more On Twitter Now view more Tweets by @ ... Malignant Hyperthermia Association of the United States. All rights reserved. ... advertiser and not necessarily the views or opinions of MHAUS, its staff or its ...

  19. Endothelial progenitor cells in hematologic malignancies

    PubMed Central

    Saulle, Ernestina; Castelli, Germana; Pelosi, Elvira

    2016-01-01

    Studies carried out in the last years have improved the understanding of the cellular and molecular mechanisms controlling angiogenesis during adult life in normal and pathological conditions. Some of these studies have led to the identification of some progenitor cells that sustain angiogenesis through indirect, paracrine mechanisms (hematopoietic angiogenic cells) and through direct mechanisms, i.e., through their capacity to generate a progeny of phenotypically and functionally competent endothelial cells [endothelial colony forming cells (ECFCs)]. The contribution of these progenitors to angiogenetic processes under physiological and pathological conditions is intensively investigated. Angiogenetic mechanisms are stimulated in various hematological malignancies, including chronic myeloid leukemia (CML), acute myeloid leukemia (AML), myelodysplastic syndromes and multiple myeloma, resulting in an increased angiogenesis that contributes to disease progression. In some of these conditions there is preliminary evidence that some endothelial cells could derive from the malignant clone, thus leading to the speculation that the leukemic cell derives from the malignant transformation of a hemangioblastic progenitor, i.e., of a cell capable of differentiation to the hematopoietic and to the endothelial cell lineages. Our understanding of the mechanisms underlying increased angiogenesis in these malignancies not only contributed to a better knowledge of the mechanisms responsible for tumor progression, but also offered the way for the discovery of new therapeutic targets. PMID:27583252

  20. Malignant catarrhal fever: inching towards understanding

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Malignant catarrhal fever (MCF) is an often lethal infection of many species in the order Artiodactyla, caused by members of the MCF virus group within Gammaherpesvirinae. MCF is a worldwide problem and has a significant economic impact on highly disease-susceptible hosts, such as cattle, bison and ...

  1. [Cooperative documentation of childhood malignancies (author's transl)].

    PubMed

    Kaatsch, P; Michaelis, J

    1981-05-01

    Since January 1980 a nationwide documentation of childhood malignancies is performed in the FRG. The cooperative documentation system is supported by the Stiftung Volkswagen-werk and centralized at the Institut für Medizinische Statistik und Dokumentation (IMSD) of the university of Mainz. During the first year of the project the incidence of 1002 malignancies has been reported from a total of 62 hospitals with a still increasing number of cooperating centers. The documentation scheme is based on recommendations of the ADT (working group of tumor centers in the FRG) which are in accordance with international recommendations by the W.H.O., U.I.C.C. etc. A newly diagnosed malignancy is reported by a short standardized form to the IMSD which in turn sends out tumor-specific questionnaires of modular structure for obtaining relevant baseline variables. Patient follow-up is achieved by obtaining the status of all patients at least twice a year which is sent in a condensed format to the IMSD. Besides obtaining basic epidemiological data the system will provide detailed analyses on the course of the different malignancies, allow comparisons between different disease groups as well as different hospitals and will serve as a recruiting basis for controlled clinical trials. PMID:7265796

  2. Malignant adrenal neuroblastoma in a young dog

    PubMed Central

    2004-01-01

    Abstract A 1.5-year-old dog was evaluated for abnormal mentation, collapse, and weight loss. Radiographs and ultrasonographs revealed soft tissue masses in the mid abdomen. Ultrasound-guided fine-needle aspirates provided a diagnosis of malignant epithelial or round cell neoplasia. Histopathologic and immunohistochemical findings on the tumors were consistent with a primitive neuroblastoma. PMID:15510689

  3. Endothelial progenitor cells in hematologic malignancies.

    PubMed

    Testa, Ugo; Saulle, Ernestina; Castelli, Germana; Pelosi, Elvira

    2016-01-01

    Studies carried out in the last years have improved the understanding of the cellular and molecular mechanisms controlling angiogenesis during adult life in normal and pathological conditions. Some of these studies have led to the identification of some progenitor cells that sustain angiogenesis through indirect, paracrine mechanisms (hematopoietic angiogenic cells) and through direct mechanisms, i.e., through their capacity to generate a progeny of phenotypically and functionally competent endothelial cells [endothelial colony forming cells (ECFCs)]. The contribution of these progenitors to angiogenetic processes under physiological and pathological conditions is intensively investigated. Angiogenetic mechanisms are stimulated in various hematological malignancies, including chronic myeloid leukemia (CML), acute myeloid leukemia (AML), myelodysplastic syndromes and multiple myeloma, resulting in an increased angiogenesis that contributes to disease progression. In some of these conditions there is preliminary evidence that some endothelial cells could derive from the malignant clone, thus leading to the speculation that the leukemic cell derives from the malignant transformation of a hemangioblastic progenitor, i.e., of a cell capable of differentiation to the hematopoietic and to the endothelial cell lineages. Our understanding of the mechanisms underlying increased angiogenesis in these malignancies not only contributed to a better knowledge of the mechanisms responsible for tumor progression, but also offered the way for the discovery of new therapeutic targets. PMID:27583252

  4. Malignant melanoma of the lacrimal sac.

    PubMed

    Yamade, S; Kitagawa, A

    1978-01-01

    A case of malignant melanoma of the lacrimal sac in a 41-year-old woman is reported, which is propably the 12th one in the world literature. Dacryocystectomy is advisable at a localized stage. The importance of early diagnosis is discussed. PMID:714368

  5. Malignant tumor emboli to the peripheral vessels.

    PubMed

    Vo, N M; Sakurai, H; Gambarini, A J

    1981-01-01

    The first case of tumor emboli trapped in a popliteal aneurysm and the longest survivor for this condition are reported. The characteristics of 25 cases reported in the literature since 1940 and the mechanism of tumor spread are reviewed. Tumor emboli represent the late stage of a malignancy and treatment does not seem to affect long-term survival. PMID:7017284

  6. Stellate excision of malignancies on the auricles.

    PubMed

    Bumsted, R M; Ceilley, R I

    1980-01-01

    Primary excision of malignancies on the auricles with the standard "wedge technique" may produce lateral protrusion of the helix. A stellate-type excision eliminates the possibility of this undesirable effect and allows the surgeon to close large defects in the helix. The technique is described in detail.

  7. [Malignant Lymphoma of the Brain, and Dementia].

    PubMed

    Mizutani, Saneyuki; Mizutani, Tomohiko

    2016-04-01

    A differential diagnosis of acute and subacute progressive dementias includes malignant lymphoma of the brain. We reviewed primary central nervous system lymphoma (PCNSL), intravascular lymphomatosis (IVL), lymphomatosis cerebri, and the relapse and invasion of systemic lymphomas. PCNSL is confined to the central nervous system; the infiltration and compression by the lymphoma result in adverse neurological symptoms. IVL is a rare form of malignant lymphoma that is characterized by the proliferation of primarily B-cell type lymphoma cells within the blood vessels of various organs. This causes ischemia and results in the associated neurological symptoms. Medical history and neuroimaging studies provide crucial informations to distinguish the lymphomas from other diseases that cause dementia, such an Alzheimer's disease. MRI imaging of the brain using contrast agent, and the biopsy of diseased tissues are essential for the diagnosis of the lymphomas. A histopathological examination is the most effective way to diagnose malignant lymphomas of the brain. Presently, the treatment of choice for PCNSL is the intravenous administration of high dose methotrexate with and without radiation therapy. Futhermore, Rituximab-containing chemotherapy has proved to greatly improve the prognosis of IVL. A better outcome can be achieved with the earlier diagnosis and treatment of the malignant lymphoma of the brain.

  8. Sequential Stenting for Extensive Malignant Airway Stenosis

    PubMed Central

    Takahama, Makoto; Nakajima, Ryu; Kimura, Michitaka; Tei, Keiko; Yamamoto, Ryoji

    2014-01-01

    Purpose: Malignant airway stenosis extending from the bronchial bifurcation to the lower lobar orifice was treated with airway stenting. We herein examine the effectiveness of airway stenting for extensive malignant airway stenosis. Methods: Twelve patients with extensive malignant airway stenosis underwent placement of a silicone Dumon Y stent (Novatech, La Ciotat, France) at the tracheal bifurcation and a metallic Spiral Z-stent (Medico’s Hirata, Osaka, Japan) at either distal side of the Y stent. We retrospectively analyzed the therapeutic efficacy of the sequential placement of these silicone and metallic stents in these 12 patients. Results: The primary disease was lung cancer in eight patients, breast cancer in two patients, tracheal cancer in one patient, and thyroid cancer in one patient. The median survival period after airway stent placement was 46 days. The Hugh–Jones classification and performance status improved in nine patients after airway stenting. One patient had prolonged hemoptysis and died of respiratory tract hemorrhage 15 days after the treatment. Conclusion: Because the initial disease was advanced and aggressive, the prognosis after sequential airway stent placement was significantly poor. However, because respiratory distress decreased after the treatment in most patients, this treatment may be acceptable for selected patients with extensive malignant airway stenosis. PMID:25273272

  9. Hypercalcemia associated with malignancy in a horse.

    PubMed

    McCoy, D J; Beasley, R

    1986-07-01

    Hypercalcemia associated with malignancy was diagnosed in a 2-year-old Thoroughbred filly admitted because of weight loss and reduced exercise tolerance of approximately 2 months' duration. Laboratory findings included hypercalcemia, hypophosphatemia, anemia, marked neutrophilia with lymphopenia and eosinopenia, and normal immunoreactive parathyroid hormone concentration. At necropsy, a 53.6-kg tumor was located in the cranioventral aspect of the abdominal cavity. Gross renal lesions were not noticed. Bone tissue appeared to be normal on gross and histologic examinations. The parathyroid glands were not grossly identified at necropsy. A specific test does not exist for detection of hypercalcemia associated with malignancy. The diagnosis of hypercalcemia associated with malignancy was made on the basis of clinical history, physical examination, radiographic interpretation, laboratory findings, histologic examination, and ruling out other causes of hypercalcemia. Hypercalcemia, increased renal phosphate excretion in the presence of hypophosphatemia, absence of bone metastases, and identifying an abdominal mesenchymal tumor that may have originated from the left ovary satisfied the basic criteria for hypercalcemia associated with malignancy from a solid tumor.

  10. Malignant biliary obstruction: From palliation to treatment.

    PubMed

    Boulay, Brian R; Birg, Aleksandr

    2016-06-15

    Malignant obstruction of the bile duct from cholangiocarcinoma, pancreatic adenocarcinoma, or other tumors is a common problem which may cause debilitating symptoms and increase the risk of subsequent surgery. The optimal treatment - including the decision whether to treat prior to resection - depends on the type of malignancy, as well as the stage of disease. Preoperative biliary drainage is generally discouraged due to the risk of infectious complications, though some situations may benefit. Patients who require neoadjuvant therapy will require decompression for the prolonged period until attempted surgical cure. For pancreatic cancer patients, self-expanding metallic stents are superior to plastic stents for achieving lasting decompression without stent occlusion. For cholangiocarcinoma patients, treatment with percutaneous methods or nasobiliary drainage may be superior to endoscopic stent placement, with less risk of infectious complications or failure. For patients of either malignancy who have advanced disease with palliative goals only, the choice of stent for endoscopic decompression depends on estimated survival, with plastic stents favored for survival of < 4 mo. New endoscopic techniques may actually extend stent patency and patient survival for these patients by achieving local control of the obstructing tumor. Both photodynamic therapy and radiofrequency ablation may play a role in extending survival of patients with malignant biliary obstruction. PMID:27326319

  11. Genetics of Bladder Malignant Tumors in Childhood.

    PubMed

    Zangari, Andrea; Zaini, Johan; Gulìa, Caterina

    2016-02-01

    Bladder masses are represented by either benign or malignant entities. Malignant bladder tumors are frequent causes of disease and death in western countries. However, in children they are less common. Additionally, different features are found in childhood, in which non epithelial tumors are more common than epithelial ones. Rhabdomyosarcoma is the most common pediatric bladder tumor, but many other types of lesions may be found, such as malignant rhabdoid tumor (MRT), inflammatory myofibroblastic tumor and neuroblastoma. Other rarer tumors described in literature include urothelial carcinoma and other epithelial neoplasms. Rhabdomyosarcoma is associated to a variety of genetic syndromes and many genes are involved in tumor development. PAX3-FKHR and PAX7-FKHR (P-F) fusion state has important implications in the pathogenesis and biology of RMS, and different genes alterations are involved in the pathogenesis of P-F negative and embryonal RMS, which are the subsets of tumors most frequently affecting the bladder. These genes include p53, MEF2, MYOG, Ptch1, Gli1, Gli3, Myf5, MyoD1, NF1, NRAS, KRAS, HRAS, FGFR4, PIK3CA, CTNNB1, FBXW7, IGF1R, PDGFRA, ERBB2/4, MET, BCOR. Malignant rhabdoid tumor (MRT) usually shows SMARCB1/INI1 alterations. Anaplastic lymphoma kinase (ALK) gene translocations are the most frequently associated alterations in inflammatory myofibroblastic tumor (IMT). Few genes alterations in urothelial neoplasms have been reported in the paediatric population, which are mainly related to deletion of p16/lnk4, overexpression of CK20 and overexpression of p53. Here, we reviewed available literature to identify genes associated to bladder malignancies in children and discussed their possible relationships with these tumors. PMID:27013922

  12. Genetics of Bladder Malignant Tumors in Childhood

    PubMed Central

    Zangari, Andrea; Zaini, Johan; Gulìa, Caterina

    2016-01-01

    Bladder masses are represented by either benign or malignant entities. Malignant bladder tumors are frequent causes of disease and death in western countries. However, in children they are less common. Additionally, different features are found in childhood, in which non epithelial tumors are more common than epithelial ones. Rhabdomyosarcoma is the most common pediatric bladder tumor, but many other types of lesions may be found, such as malignant rhabdoid tumor (MRT), inflammatory myofibroblastic tumor and neuroblastoma. Other rarer tumors described in literature include urothelial carcinoma and other epithelial neoplasms. Rhabdomyosarcoma is associated to a variety of genetic syndromes and many genes are involved in tumor development. PAX3-FKHR and PAX7-FKHR (P-F) fusion state has important implications in the pathogenesis and biology of RMS, and different genes alterations are involved in the pathogenesis of P-F negative and embryonal RMS, which are the subsets of tumors most frequently affecting the bladder. These genes include p53, MEF2, MYOG, Ptch1, Gli1, Gli3, Myf5, MyoD1, NF1, NRAS, KRAS, HRAS, FGFR4, PIK3CA, CTNNB1, FBXW7, IGF1R, PDGFRA, ERBB2/4, MET, BCOR. Malignant rhabdoid tumor (MRT) usually shows SMARCB1/INI1 alterations. Anaplastic lymphoma kinase (ALK) gene translocations are the most frequently associated alterations in inflammatory myofibroblastic tumor (IMT). Few genes alterations in urothelial neoplasms have been reported in the paediatric population, which are mainly related to deletion of p16/lnk4, overexpression of CK20 and overexpression of p53. Here, we reviewed available literature to identify genes associated to bladder malignancies in children and discussed their possible relationships with these tumors. PMID:27013922

  13. Hypercalcemia of malignancy and new treatment options.

    PubMed

    Sternlicht, Hillel; Glezerman, Ilya G

    2015-01-01

    Hypercalcemia of malignancy affects up to one in five cancer patients during the course of their disease. It is associated with both liquid malignancies, commonly multiple myeloma, leukemia, and non-Hodgkins lymphoma and solid cancers, particularly breast and renal carcinomas as well as squamous cell carcinomas of any organ. The clinical manifestations of hypercalcemia are generally constitutional in nature and not specific to the inciting malignancy. Such physical manifestations can range from malaise to lethargy and confusion. Constipation and anorexia are common. Acute kidney injury is likely the most frequently encountered manifestation of end organ damage. Symptomatology is closely linked to both the absolute elevation of serum calcium levels and the rapidity of calcium rise. The majority of cases are humoral in etiology and related to parathyroid hormone-related protein (PTHrP). Approximately 20% of cases are the result of direct bone metastasis with extra-renal 1,25-dihydroxyvitamin D (calcitriol) and ectopic parathyroid hormone production likely accounting for less than 1% of cases. The diagnosis of hypercalcemia of malignancy is confirmed either by an elevated PTHrP or by an evidence of bone metastasis in the appropriate clinical setting. Treatment is predicated on the patient's symptoms and absolute serum calcium level. Interventions are aimed at lowering the serum calcium concentration by inhibiting bone resorption and increasing urinary calcium excretion, the former accomplished via bisphosphonate therapy and the latter with aggressive hydration. Novel therapies for refractory disease include denosumab, a monoclonal antibody against the receptor activator of nuclear factor κB ligand, and the calcimimetic cinacalcet. Finally, anti-PTHrP antibodies have been successfully deployed in animal models of disease. Despite the efficacy of the above therapies, hypercalcemia of malignancy portends an ominous prognosis, indicating advanced and often refractory

  14. Anogenital malignancies and premalignancies: facts and controversies.

    PubMed

    Kutlubay, Zekayi; Engin, Burhan; Zara, Tuba; Tüzün, Yalçın

    2013-01-01

    Anogenital malignancies and premalignancies are an important personal/public health problem due to their effects on individuals' physical, mental, and sexual health. Also, due to their etiological association with human papillomavirus (HPV) infection, anogenital malignancies and premalignancies constitute an immense public health burden. In addition to HPV infection, immunosuppression, HIV infection, chronic dermatoses, such as lichen sclerosis, previous radiotherapy and chemotherapy treatments, and smoking, are the other important etiopathologic factors in the development of anogenital malignancies and premalignancies. The incidence of anal squamous cell carcinoma (SCC) has increased considerably in the past decade, mainly due to the growing number of cases in high-risk groups, such as men who have sex with men, immunosuppressed individuals, and patients with HIV infection. Also, an increase in vulvar intraepithelial neoplasia (VIN) and VIN-related invasive vulvar cancer has been noted in women younger than age 50 years due to its association with HPV infections over the past decade. SCC of the scrotum seems to be the first cancer linked to occupational exposure. Bowen's disease, Bowenoid papulosis, and erythroplasia of Queyrat are the most widely seen premalignancies of anogenital region and are all forms of squamous intraepithelial neoplasia. Histopathologically, these conditions share identical histologic features of SCC in situ, but their clinical features differ. Early diagnosis is vital to improve prognosis, especially in anogenital malignancies. Also, if a delay occurs in diagnosis, treatment options used will be associated with significant negative effects on the patient's psychological well-being and quality of life; hence, management of anogenital malignancies and premalignancies should be organized in a multidisciplinary fashion. PMID:23806153

  15. Malignant Tumors of Tongue in Iranian Population

    PubMed Central

    Akbari, Mohammad Esmaeil; Atarbashi Moghadam, Saede; Atarbashi Moghadam, Fazele; Bastani, Zahra

    2016-01-01

    Background The incidence of oral cancers varies from one country to another, which can be clarified by the difference in the distribution of the risk factors and the possible etiologies. Tongue is a main segment of oral cavity and malignant lesions of this region accounts for nearly 30% of all oral cancers. Objectives In the present study, we evaluated the pattern of tongue cancer in Iranian population and compared these findings with those previously reported in the other countries. Methods In this multicenter, retrospective cross-sectional study recorded cases of the malignant tongue tumors in the cancer research center (CRC) of Shahid Beheshti University of Medical Sciences were extracted. The patient records and their microscopic reports were retrieved from the archives and age, sex and microscopic types were evaluated. It is to be noted that the CRC has been serving as a cancer registry center for major hospitals all over the country since the year of 2003. Thus, the obtained statistics are highly reliable. Results During the years 2003 to 2008, a total number of 952 new cases of the tongue cancer were recorded in the CRC. Most cases are diagnosed in the sixth and seventh decades of life. 450 cases (47.2%) occurred in men and 489 cases (51.36%) in women. Four different types of malignant lesions (epithelial, salivary gland, hematopoietic and mesenchymal) were diagnosed. Epithelial tumors were the most prevalent malignancies (93%) of which squamous cell carcinoma (SCC) made up 87.39% of all lesions. Salivary gland tumors had the second place with 3.15% of the total lesions. Conclusions In Iranian population, squamous cell carcinoma is the most prevalent malignancy of tongue and it is notable that the ratio of female to male population was equal. These lesions were prevalent in the sixth and seventh decades of life. Thus screening examination of tongue by dentist especially in elderly patients is necessary for early detection of cancerous lesions. PMID:27761209

  16. Musculoskeletal manifestations in patients with malignant disease.

    PubMed

    Gheita, Tamer A; Ezzat, Yasser; Sayed, Safaa; El-Mardenly, Ghada; Hammam, Waleed

    2010-02-01

    To detect and describe the incidence of musculoskeletal manifestations in different malignant diseases as well as their relation to the treatment received whether by chemotherapy or radiation therapy. Sixty patients with different malignant diseases were included in this study, 45 with solid tumors and 15 patients with hematological malignancy. The mean age was 46.55 +/- 11.04 years and the mean disease duration was 2 +/- 0.75 years. The patients were fully examined for any rheumatologic involvement, laboratory investigations were performed as well as dual energy X-ray absorptiometry study for bone densitometry. Treatment strategies were assessed including the chemotherapeutics, radiation therapy, and/or surgery. Myalgias and arthralgias were the most frequent followed by flexor tenosynovitis, frozen shoulder, and fibromyalgia syndrome. Hypertrophic osteoarthropathy was seen in five patients, cutaneous vasculitis in two patients as well as arthritis. Osteonecrosis was present in one of the lunate carpal bones of a patient with non-Hodgkin's lymphoma (1.67%) and receiving high dose steroids. Rheumatoid factor was positive in four patients, three of which had hepatitis C virus positivity and cryoglobulins. Anti-neutrophil cytoplasmic antibody was negative in all the studied patients. The bone mineral density was significantly reduced in the patients with malignancy compared to the control. Mild to moderate osteoporosis was present, being more evident in the spine and forearm. The bone loss was higher in those with solid tumors and even more obvious in those receiving aromatase inhibitors. Musculoskeletal manifestations occurring during malignancies and following the treatment represent a significant percentage of symptoms and signs which may raise a clue to differential diagnosis.

  17. Epithelial-mesenchymal transition in malignant mesothelioma.

    PubMed

    Fassina, Ambrogio; Cappellesso, Rocco; Guzzardo, Vincenza; Dalla Via, Lisa; Piccolo, Stefano; Ventura, Laura; Fassan, Matteo

    2012-01-01

    Epithelial-mesenchymal transition is a physiopathological process by which epithelial cells acquire mesenchymal shape and properties. Malignant mesothelioma is histologically characterized by the concomitant presence of epithelioid and sarcomatoid features, the latter being associated to worse prognosis, thus suggesting a role of epithelial-mesenchymal transition in this dual phenotype. We studied 109 malignant mesotheliomas (58 epithelioid, 26 sarcomatoid, and 25 biphasic) by immunohistochemistry and qRT-PCR analysis, and demonstrated a substantial switch from epithelial markers (E-cadherin, β-catenin, and cytokeratins 5/6) to mesenchymal markers (N-cadherin, vimentin, α-smooth muscle actin, Snail, Slug, Twist, ZEB1, ZEB2, S100A4, MMP2, and MMP9) through epithelioid to biphasic and sarcomatoid histotypes. In agreement with these findings, the ectopic expression of miR-205 (a repressor of ZEB1 and ZEB2 expression) in MeT-5A (mesothelial cell line), H2452 (an epithelioid malignant mesothelioma cell line) and MSTO-211H (a biphasic malignant mesothelioma cell line) not only induced a significant reduction of ZEB1 and ZEB2 and a consequent up-regulation of E-cadherin gene expression, but also inhibited migration and invasion. Moreover, miR-205 was significantly down-regulated in biphasic and sarcomatoid histotypes (qRT-PCR and in situ hybridization analyses). Collectively, our findings indicate that epithelial-mesenchymal transition has a significant part in the morphological features of malignant mesothelioma. In particular, miR-205 down-regulation correlated significantly with both a mesenchymal phenotype and a more aggressive behavior.

  18. Advances in Optical Adjunctive Aids for Visualisation and Detection of Oral Malignant and Potentially Malignant Lesions

    PubMed Central

    Bhatia, Nirav; Lalla, Yastira; Vu, An N.; Farah, Camile S.

    2013-01-01

    Traditional methods of screening for oral potentially malignant disorders and oral malignancies involve a conventional oral examination with digital palpation. Evidence indicates that conventional examination is a poor discriminator of oral mucosal lesions. A number of optical aids have been developed to assist the clinician to detect oral mucosal abnormalities and to differentiate benign lesions from sinister pathology. This paper discusses advances in optical technologies designed for the detection of oral mucosal abnormalities. The literature regarding such devices, VELscope and Identafi, is critically analysed, and the novel use of Narrow Band Imaging within the oral cavity is also discussed. Optical aids are effective in assisting with the detection of oral mucosal abnormalities; however, further research is required to evaluate the usefulness of these devices in differentiating benign lesions from potentially malignant and malignant lesions. PMID:24078812

  19. General Information about Ovarian Low Malignant Potential Tumors

    MedlinePlus

    ... Malignant Potential Tumors Treatment (PDQ®)–Patient Version General Information About Ovarian Low Malignant Potential Tumors Go to ... the PDQ Adult Treatment Editorial Board . Clinical Trial Information A clinical trial is a study to answer ...

  20. What's New in Malignant Mesothelioma Research and Treatment?

    MedlinePlus

    ... Next Topic Additional resources for malignant mesothelioma What’s new in malignant mesothelioma research and treatment? There is ... that has shown promise in some studies. Other new drugs have different targets. For example, some new ...

  1. [Development in the treatment of malignant mesothelioma].

    PubMed

    Bass, P; Burgers, J A

    2005-04-01

    For many years there has been a search for an effective treatment of malignant pleural mesothelioma. Surgery is of limited applicability and is reserved for special cases, in which it is combined with radiation therapy. In the previous century, many cytostatic agents have been tested, alone or in combination, but the response was limited, the median survival time was unchanged and the toxicity was high. New drugs, including the new antifolates, are being used much more often in the treatment of malignant pleural mesothelioma in combination with a platinum derivative. Cytostatics such as pemetrexed, an antifolate, and to a lesser extent raltitrexed, have shown good response rates and increased survival in phase III studies, but the survival benefit evaporates within 2 years. Inhibitors of angiogenesis and of epidermal growth factor are being tested, but they have shown only limited activity until now. The current studies focus on the use of chemotherapy and biological agents as part of a more complex treatment schedule.

  2. Predicting Malignancy in Thyroid Nodules: Molecular Advances

    PubMed Central

    Melck, Adrienne L.; Yip, Linwah

    2016-01-01

    Over the last several years, a clearer understanding of the genetic alterations underlying thyroid carcinogenesis has developed. This knowledge can be utilized to tackle one of the greatest challenges facing thyroidologists: management of the indeterminate thyroid nodule. Despite the accuracy of fine needle aspiration cytology, many patients undergo invasive surgery in order to determine if a follicular or Hurthle cell neoplasm is malignant, and better diagnostic tools are required. A number of biomarkers have recently been studied and show promise in this setting. In particular, BRAF, RAS, PAX8-PPARγ, microRNAs and loss of heterozygosity have each been demonstrated as useful molecular tools for predicting malignancy and can thereby guide decisions regarding surgical management of nodular thyroid disease. This review summarizes the current literature surrounding each of these markers and highlights our institution’s prospective analysis of these markers and their subsequent incorporation into our management algorithms for thyroid nodules. PMID:21818817

  3. Tumor initiating cells in malignant gliomas

    PubMed Central

    Hadjipanayis, Costas G.; Van Meir, Erwin G.

    2009-01-01

    A rare subpopulation of cells within malignant gliomas, which shares canonical properties with neural stem cells (NSCs), may be integral to glial tumor development and perpetuation. These cells, also known as tumor initiating cells (TICs), have the ability to self-renew, develop into any cell in the overall tumor population (multipotency), and proliferate. A defining property of TICs is their ability to initiate new tumors in immunocompromised mice with high efficiency. Mounting evidence suggests that TICs originate from the transformation of NSCs and their progenitors. New findings show that TICs may be more resistant to chemotherapy and radiation than the bulk of tumor cells, thereby permitting recurrent tumor formation and accounting for the failure of conventional therapies. The development of new therapeutic strategies selectively targeting TICs while sparing NSCs may provide for more effective treatment of malignant gliomas. PMID:19189072

  4. [Palliation of dyspnea in malignant disease].

    PubMed

    de la Fuente Fonnest, I; Hjortshøj, K M; Strömgren, L A

    1999-01-18

    Dyspnea is a symptom experienced by more than half of all cancer patients in their terminal illness, and it is thus a severe problem for patients, relatives, and professionals. Dyspnea in a cancer patient may have a non-malignant origin that may be treated causally. If dyspnea is caused directly by the malignant disease, antineoplastic treatment needs to be considered. In case this is not feasible, one must seek to modify the manifestations of illness. When this is not possible, one must relieve the patient's experience of dyspnea. To this end there are a number of possibilities, pharmacological as well as non-pharmacological. Opioids given systemically cause respiratory depression. Unfortunately, this has given rise to an overly cautious attitude when facing the terminal patient with dyspnea. However, other treatment modalities are often exhausted and opioids, if indicated in combination with anxiolytics, do have a palliative effect on dyspnea.

  5. Malignant solitary fibrous tumor of the esophagus.

    PubMed

    Lococo, Filippo; Cesario, Alfredo; Mulè, Antonino; Margaritora, Stefano

    2011-04-01

    Solitary fibrous tumor (SFT) of the esophagus has been very rarely reported in literature. Herein, we report a case of a successful surgically treated malignant solitary fibrous tumor of the esophagus. A 36-year-old woman was admitted at our hospital with an erroneous ultrasound-based diagnosis of cervico-mediastinal goiter. Surprisingly, the preoperative diagnostic work-up, including a computed tomographic chest scan, endoscopy, and endoscopic ultrasonography, revealed a pedunculated intraluminal mass in the esophagus. The tumor was radically removed through left antero-lateral cervicotomy. Pathologic and immunohistochemical examination was concluded for a malignant SFT, a rare variant not previously described in relation to the esophagus. The patient underwent adjuvant radiotherapy and is alive with no signs of tumor recurrence 32 months after surgery.

  6. Vaccinations in patients with hematological malignancies.

    PubMed

    Tsigrelis, C; Ljungman, P

    2016-03-01

    Patients with hematological malignancies are at risk for a number of infections that are potentially preventable by vaccinations such as pneumococcal infections and influenza. Treatment, especially with anti-B-cell antibodies and hematopoietic stem cell transplantation (HSCT), negatively impacts the response to vaccination for several months. It is therefore recommended that patients be vaccinated before initiating immunosuppressive therapy if possible. The risk of side-effects with inactivated vaccines is low, but care has to be taken with live vaccines, such as varicella-zoster virus vaccine, since severe and fatal complications have been reported. HSCT patients require repeated doses of most vaccines to achieve long-lasting immune responses. New therapeutic options for patients with hematological malignancies that are rapidly being introduced into clinical practice will require additional research regarding the efficacy of vaccinations. New vaccines are also in development that will require well-designed studies to ascertain efficacy and safety.

  7. Penile Sarcoma: Report of a Rare Malignancy

    PubMed Central

    Kumar, Vijay; Chaturvedi, Arun; Vishnoi, Jeevan Ram; Dontula, Prashant

    2016-01-01

    Penile cancer is an uncommon malignancy. Squamous cell carcinoma constitutes approximately 95% of all histology. Non-squamous malignancies are rare in penis. Sarcomas of penis are rarer among them. Spindle cell sarcoma is one of the extremely rare sarcoma of penis. To best of our knowledge, only two cases have been reported so far, one in English literature and other in Japanese. We are presenting this uncommon case of spindle cell sarcoma of penis, which was diagnosed with microscopy with its characteristic immunohistochemistry. The disease had an aggressive course with multiple recurrences in a short duration despite margin negative resection. Disease responded poorly with the chemotherapy and patient succumbed to the disease. PMID:27630937

  8. Management of Recurrent Malignant Salivary Neoplasms.

    PubMed

    Merdad, Mazin; Richmon, Jeremy D; Quon, Harry

    2016-01-01

    The management of malignant salivary gland neoplasms is based on a surgical paradigm, with intraoperative findings and pathology guiding the role of local-regional adjuvant therapy. Despite high rates of local control, local relapse can be a dominant pattern of recurrence, presenting therapeutic challenges. Although an optimal management approach has not been established, aggressive salvage surgery is favored given the morbidity associated with tumor progression at the skull base and the lack of significant response associated with other available treatment modalities. Postoperative radiotherapy has been demonstrated to be effective in the initial management of malignant salivary gland neoplasms and is generally favored for recurrent, surgically resectable tumors for the appropriate patient. PMID:27093607

  9. [Malignant insulinoma: recommendations for workup and treatment].

    PubMed

    Baudin, Eric; Caron, Philippe; Lombard-Bohas, Catherine; Tabarin, Antoine; Mitry, Emmanuel; Reznick, Yves; Taieb, David; Pattou, François; Goudet, Pierre; Vezzosi, Delphine; Scoazec, Jean-Yves; Cadiot, Guillaume; Borson-Chazot, Françoise; Do Cao, Christine

    2014-06-01

    Insulinoma are malignant in 4 to 14 % of cases. Their rarity and the sparse data available in the literature have limited publication of specific guidelines for their management. The following review aim to provide up-to-date recommendations on initial evaluation including pathologic grading, measures to control hypoglycemia, antitumor strategies and long term follow-up. Will be discussed in detail respective indications of surgery, diazoxide, somatostatin analogs, everolimus, sunitinib, liver directed treatments including arterial embolization, chemotherapy and radiometabolic therapy. A Medline search using terms "insulinoma", "neuroendocrine pancreatic tumors", "islet cell carcinoma", "malignant insulinoma" was performed limiting the selection to English language articles and adult age cases, along with cross referencing.

  10. BMI1: A Biomarker of Hematologic Malignancies

    PubMed Central

    Sahasrabuddhe, Anagh A.

    2016-01-01

    BMI1 oncogene is a catalytic member of epigenetic repressor polycomb group proteins. It plays a critical role in the regulation of gene expression pattern and consequently several cellular processes during development, including cell cycle progression, senescence, aging, apoptosis, angiogenesis, and importantly self-renewal of adult stem cells of several lineages. Preponderance of evidences indicates that deregulated expression of PcG protein BMI1 is associated with several human malignancies, cancer stem cell maintenance, and propagation. Importantly, overexpression of BMI1 correlates with therapy failure in cancer patients and tumor relapse. This review discusses the diverse mode of BMI1 regulation at transcriptional, posttranscriptional, and posttranslational levels as well as at various critical signaling pathways regulated by BMI1 activity. Furthermore, this review highlights the role of BMI1 as a biomarker and therapeutic target for several subtypes of hematologic malignancies and the importance to target this biomarker for therapeutic applications. PMID:27168727

  11. Malignant syphilis in an AIDS patient.

    PubMed

    dos Santos, T R; de Castro, I J; Dahia, M M B; de Azevedo, M C V M; da Silva, G A R; Motta, R N; da Cunha Pinto, J; de Almeida Ferry, F R

    2015-04-01

    Malignant syphilis is an uncommon, but not unknown, ulcerative variation of secondary syphilis. The lesions typically begin as papules, which quickly evolve to pustules and then to ulcers with elevated edges and central necrosis. It is usually, but not mandatory, found in patients with some level of immunosuppression, such as HIV patients, when the TCD4(+) cell count is >200 cells/mm(3). Despite the anxiety the lesions cause, this form of the disease has a good prognosis. The general symptoms disappear right after the beginning of treatment, and lesions disappear over a variable period. This study reports the case of a 27-year-old man who has been HIV positive for 6 years, uses antiretroviral therapy incorrectly, has a TCD4(+) cell count of 340 cells/mm(3), a VDRL of 1:128 and itchy disseminated hyperchromic maculopapular lesions with rupioid crusts compatible with malignant syphilis. PMID:25408098

  12. Hodgkin's Disease and Other Malignant Lymphomas

    PubMed Central

    Rosenberg, Saul A.; Kaplan, Henry S.

    1970-01-01

    Systematic studies of the patterns of anatomic distribution, pathways of probable spread, and prognosis of the malignant lymphomas have been greatly aided by the development of new histopathologic classifications and the introduction of more sophisticated and precise diagnostic techniques, such as lymphangiography and laparotomy with splenectomy and retroperitoneal node biopsy. Concomitantly, megavoltage radiotherapy apparatus has made total-lymphoid radiotherapy feasible and practical, and the availability of a widening spectrum of chemotherapeutic agents has ushered in a new era of combination chemotherapy. Collectively, these diagnostic and therapeutic advances have already begun to yield a dramatic improvement in the prognosis of Hodgkin's disease and the other malignant lymphomas. ImagesFigure 1.Figure 2.Figure 3.Figure 4.Figure 5.Figure 6.Figure 7. PMID:4991356

  13. Immunotherapy advances in uro-genital malignancies.

    PubMed

    Ratta, Raffaele; Zappasodi, Roberta; Raggi, Daniele; Grassi, Paolo; Verzoni, Elena; Necchi, Andrea; Di Nicola, Massimo; Salvioni, Roberto; de Braud, Filippo; Procopio, Giuseppe

    2016-09-01

    Immunotherapy for the treatment of cancer has made significant progresses over the last 20 years. Multiple efforts have been attempted to restore immune-mediated tumor elimination, leading to the development of several targeted immunotherapies. Data from recent clinical trials suggest that these agents might improve the prognosis of patients with advanced genito-urinary (GU) malignancies. Nivolumab has been the first immune checkpoint-inhibitor approved for pre-treated patients with metastatic renal cell carcinoma. Pembrolizumab and atezolizumab have shown promising results in both phase I and II trials in urothelial carcinoma. Brentuximab vedotin has demonstrated early signals of clinical activity and immunomodulatory effects in highly pre-treated patients with testicular germ cell tumors. In this review, we have summarized the major clinical achievements of immunotherapy in GU cancers, focusing on immune checkpoint blockade as well as the new immunomodulatory monoclonal antibodies (mAbs) under clinical evaluation for these malignancies.

  14. Treatment of malignant gliomas: a new approach.

    PubMed

    Paccapelo, A; Piana, C; Rychlicki, F; Recchioni, M A; Salvolini, U; Ducati, A; Bonsignori, M

    1998-01-01

    The aim of this study is to describe the authors' experience with intra-arterial ACNU chemotherapy of malignant gliomas. The prognosis of cerebral malignant gliomas remains poor, whatever traditional therapy is applied. ACNU is a well tolerated nitrosourea with a strong antimitotic effect on neurogenic cells both in vitro and in vivo; this drug has enhanced efficacy when used at high concentrations, particularly as an intraarterial infusion. Seventy-six patients have been studied to date, 68 of whom are evaluable; these patients were treated by intra-arterial infusion of ACNU (100 mg/m2) every 6 weeks, with a mean of 2.5 courses per patient. The objective response (OR) was 28% and analysis of pretreatment factors revealed that survival was influenced by histological grade, other types of therapy applied, and age. In general IAC is well tolerated and the response and survival appear to be better than with systemic chemotherapy.

  15. Malignancy and the benign lymphoepithelial lesion.

    PubMed

    Batsakis, J G; Bernacki, E G; Rice, D H; Stebler, M E

    1975-02-01

    The benign lymphoepithelial lesion of salivary glands is now considered the histological hallmark of a variety of clinical and pathological disorders affecting salivary tissues. Malignancy arising in the lesion is uncommon, but may take origin in either the epithelial or lymphoreticular components. Lymphomas and pseudolymphomas associated with salivary gland lymphoepithelial lesions have been predominately extra-salivary and strongly correlated with Sjögren's syndrome. Epithelial malignancy has not been associated with autoimmunity and with few exceptions has been of the anaplastic type. This report presents two patients with intra-salivary lymphomas arising in a benign lymphoepithelial lesion of salivary glands and a patient with anaplastic carcinoma arising in the epithelial islands of the lesion. The fourth patient manifested pseudolymphomatous lymphoreticular hyperplasia in lung and submandibular gland and illustrates the possible multiple organ involvement that may occur in patients with benign lymphoepithelial lesion, even without clinical evidence of concommitant autoimmune disorders.

  16. Penile Sarcoma: Report of a Rare Malignancy.

    PubMed

    Rajan, Shiv; Kumar, Vijay; Chaturvedi, Arun; Vishnoi, Jeevan Ram; Dontula, Prashant

    2016-07-01

    Penile cancer is an uncommon malignancy. Squamous cell carcinoma constitutes approximately 95% of all histology. Non-squamous malignancies are rare in penis. Sarcomas of penis are rarer among them. Spindle cell sarcoma is one of the extremely rare sarcoma of penis. To best of our knowledge, only two cases have been reported so far, one in English literature and other in Japanese. We are presenting this uncommon case of spindle cell sarcoma of penis, which was diagnosed with microscopy with its characteristic immunohistochemistry. The disease had an aggressive course with multiple recurrences in a short duration despite margin negative resection. Disease responded poorly with the chemotherapy and patient succumbed to the disease. PMID:27630937

  17. The treatment of recurrent malignant pleural effusion.

    PubMed

    Austin, E H; Flye, M W

    1979-08-01

    Effective control of a recurrent malignant pleural effusion can greatly improve the quality of life of the cancer patient. At least a dozen different techniques have been advocated for controlling this common complication of malignant disease. The present review collects and examines the clinical results of all techniques designed to treat this problem. The pathophysiology and diagnostic evaluation of the effusion are also discussed. On the basis of comparisons involving effectiveness, morbidity, and convenience, we recommend intrapleurally administered tetracycline with thoracostomy drainage as the technique of choice. Instillation of a talc suspension with thoracostomy drainage is also a safe and effective technique and should be employed when tetracycline fails or is contraindicated. PMID:383031

  18. Disseminated nocardiosis masquerading as metastatic malignancy.

    PubMed

    Arjun, Rajalakshmi; Padmanabhan, Arjun; Reddy Attunuru, Bhanu Prakash; Gupta, Prerna

    2016-01-01

    Nocardiosis is an uncommon gram-positive bacterial infection caused by aerobic actinomycetes of the genus Nocardia. It can be localized or systemic and is regarded as an opportunistic infection that is commonly seen in immunocompromised hosts. We report a case of disseminated nocardiosis caused by Nocardia cyriacigeorgica in a patient with underlying malignancy in whom the clinical presentation was highly suggestive of a metastatic disease. PMID:27578940

  19. Malignancy Risk Models for Oral Lesions

    PubMed Central

    Zarate, Ana M.; Brezzo, María M.; Secchi, Dante G.; Barra, José L.

    2013-01-01

    Objectives: The aim of this work was to assess risk habits, clinical and cellular phenotypes and TP53 DNA changes in oral mucosa samples from patients with Oral Potentially Malignant Disorders (OPMD), in order to create models that enable genotypic and phenotypic patterns to be obtained that determine the risk of lesions becoming malignant. Study Design: Clinical phenotypes, family history of cancer and risk habits were collected in clinical histories. TP53 gene mutation and morphometric-morphological features were studied, and multivariate models were applied. Three groups were estabished: a) oral cancer (OC) group (n=10), b) OPMD group (n=10), and c) control group (n=8). Results: An average of 50% of patients with malignancy were found to have smoking and drinking habits. A high percentage of TP53 mutations were observed in OC (30%) and OPMD (average 20%) lesions (p=0.000). The majority of these mutations were GC ? TA transversion mutations (60%). However, patients with OC presented mutations in all the exons and introns studied. Highest diagnostic accuracy (p=0.0001) was observed when incorporating alcohol and tobacco habits variables with TP53 mutations. Conclusions: Our results prove to be statistically reliable, with parameter estimates that are nearly unbiased even for small sample sizes. Models 2 and 3 were the most accurate for assessing the risk of an OPMD becoming cancerous. However, in a public health context, model 3 is the most recommended because the characteristics considered are easier and less costly to evaluate. Key words:TP53, oral potentially malignant disorders, risk factors, genotype, phenotype. PMID:23722122

  20. Primary Malignant Melanoma in the Pineal Region

    PubMed Central

    Hong, Yong-Kil

    2014-01-01

    A 59-year-old male patient had 5-month history of gait disturbance and memory impairment. His initial brain computed tomography scan showed 3.5×2.8 cm sized mass with high density in the pineal region. The tumor was hypointense on T2 weighted magnetic resonance images and hyperintense on T1 weighted magnetic resonance images with heterogenous enhancement of central portion. The tumor was totally removed via the occipital transtentorial approach. Black mass was observed in the operation field, and after surgery, histopathological examination confirmed the diagnosis of malignant melanoma. Whole spine magnetic resonance images and whole body 18-fluoro-deoxyglucose positron emission tomography could not demonstrate the primary site of this melanoma. Scrupulous physical examination of his skin and mucosa was done and dark pigmented lesion on his left leg was found, but additional studies including magnetic resonance images and skin biopsy showed negative finding. As a result, final diagnosis of primary pineal malignant melanoma was made. He underwent treatment with the whole brain radiotherapy and extended local boost irradiation without chemotherapy. His preoperative symptoms were disappeared, and no other specific neurological deficits were founded. His follow-up image studies showed no recurrence or distant metastasis until 26 weeks after surgery. Primary pineal malignant melanomas are extremely rare intracranial tumors, and only 17 cases have been reported since 1899. The most recent case report showed favorable outcome by subtotal tumor resection followed by whole brain and extended local irradiation without chemotherapy. Our case is another result to prove that total tumor resection with radiotherapy can be the current optimal treatment for primary malignant melanoma in the pineal region. PMID:25628812

  1. Endoscopic radiofrequency ablation for malignant biliary strictures

    PubMed Central

    WANG, FEI; LI, QUANPENG; ZHANG, XIUHUA; JIANG, GUOBING; GE, XIANXIU; YU, HONG; NIE, JUNJIE; JI, GUOZHONG; MIAO, LIN

    2016-01-01

    Endoscopic radiofrequency ablation (RFA) is a novel palliation therapy for malignant biliary stricture; however, its feasibility and safety has not yet been clearly defined. The aim of the present study was to evaluate the feasibility and safety of endoscopic RFA for the treatment of malignant biliary strictures. A total of 12 patients treated by endoscopic RFA between December 2011 and October 2013 were retrospectively analyzed. Adverse events within 30 days post-intervention, stricture diameters prior to and following RFA, stent patency and survival time were investigated. A total of 12 patients underwent 20 RFA procedures as a treatment for malignant biliary strictures. Two patients required repeated elective RFA (4 and 6 times, respectively). All 20 RFA procedures were successfully performed without technical problems. During a 30 day period following each RFA procedure, two patients experienced fever (38.2 and 38.9°C, respectively) and another patient exhibited post-endoscopic retrograde cholangiopancreatography pancreatitis. The 30- and 90-day mortality rates were 0 and 8.3%, respectively. Mean stricture diameter prior to RFA was 5.3 mm (standard deviation (SD), 0.9 mm; range, 5–8 mm), and the mean diameter following RFA was 12.6 mm (SD, 3.1 mm; range, 8–15 mm). There was a significant increase of 7.3 mm in the bile duct diameter following RFA in comparison with prior to RFA (t=8.6; P≤0.001). Of the 11 patients with stents inserted following RFA, the median stent patency was 125.0 days [95% confidence interval (CI), 94.7–155.3 days]. Extrapolated median survival following the first RFA was 232 days (95% CI, 94.3–369.7 days). In conclusion, RFA appears to be an efficient and safe treatment strategy for the palliation of unresectable malignant biliary strictures. PMID:27284336

  2. A benign maxillary tumour with malignant features.

    PubMed

    Ricalde, Rosario R; Lim, Aimee Caroline E; Lopa, Ramon Antonio B; Carnate, Jose M

    2010-06-01

    Non-specific biopsy results such as chronic inflammation, hemorrhage, necrosis can be frustrating to the clinician. This is especially true if the patient presents with clinical features suggestive of an aggressive tumour. This is a review of the clinical features, diagnostic dilemmas and surgical management of a benign maxillary mass with malignant features - a disease called hematoma-like mass of the maxillary sinus (HLMMS). Our experience with five cases will also be cited. PMID:20502750

  3. Disseminated nocardiosis masquerading as metastatic malignancy

    PubMed Central

    Arjun, Rajalakshmi; Padmanabhan, Arjun; Reddy Attunuru, Bhanu Prakash; Gupta, Prerna

    2016-01-01

    Nocardiosis is an uncommon gram-positive bacterial infection caused by aerobic actinomycetes of the genus Nocardia. It can be localized or systemic and is regarded as an opportunistic infection that is commonly seen in immunocompromised hosts. We report a case of disseminated nocardiosis caused by Nocardia cyriacigeorgica in a patient with underlying malignancy in whom the clinical presentation was highly suggestive of a metastatic disease. PMID:27578940

  4. Targeting cell cycle regulators in hematologic malignancies.

    PubMed

    Aleem, Eiman; Arceci, Robert J

    2015-01-01

    Hematologic malignancies represent the fourth most frequently diagnosed cancer in economically developed countries. In hematologic malignancies normal hematopoiesis is interrupted by uncontrolled growth of a genetically altered stem or progenitor cell (HSPC) that maintains its ability of self-renewal. Cyclin-dependent kinases (CDKs) not only regulate the mammalian cell cycle, but also influence other vital cellular processes, such as stem cell renewal, differentiation, transcription, epigenetic regulation, apoptosis, and DNA repair. Chromosomal translocations, amplification, overexpression and altered CDK activities have been described in different types of human cancer, which have made them attractive targets for pharmacological inhibition. Mouse models deficient for one or more CDKs have significantly contributed to our current understanding of the physiological functions of CDKs, as well as their roles in human cancer. The present review focuses on selected cell cycle kinases with recent emerging key functions in hematopoiesis and in hematopoietic malignancies, such as CDK6 and its role in MLL-rearranged leukemia and acute lymphocytic leukemia, CDK1 and its regulator WEE-1 in acute myeloid leukemia (AML), and cyclin C/CDK8/CDK19 complexes in T-cell acute lymphocytic leukemia. The knowledge gained from gene knockout experiments in mice of these kinases is also summarized. An overview of compounds targeting these kinases, which are currently in clinical development in various solid tumors and hematopoietic malignances, is presented. These include the CDK4/CDK6 inhibitors (palbociclib, LEE011, LY2835219), pan-CDK inhibitors that target CDK1 (dinaciclib, flavopiridol, AT7519, TG02, P276-00, terampeprocol and RGB 286638) as well as the WEE-1 kinase inhibitor, MK-1775. The advantage of combination therapy of cell cycle inhibitors with conventional chemotherapeutic agents used in the treatment of AML, such as cytarabine, is discussed. PMID:25914884

  5. Targeting cell cycle regulators in hematologic malignancies

    PubMed Central

    Aleem, Eiman; Arceci, Robert J.

    2015-01-01

    Hematologic malignancies represent the fourth most frequently diagnosed cancer in economically developed countries. In hematologic malignancies normal hematopoiesis is interrupted by uncontrolled growth of a genetically altered stem or progenitor cell (HSPC) that maintains its ability of self-renewal. Cyclin-dependent kinases (CDKs) not only regulate the mammalian cell cycle, but also influence other vital cellular processes, such as stem cell renewal, differentiation, transcription, epigenetic regulation, apoptosis, and DNA repair. Chromosomal translocations, amplification, overexpression and altered CDK activities have been described in different types of human cancer, which have made them attractive targets for pharmacological inhibition. Mouse models deficient for one or more CDKs have significantly contributed to our current understanding of the physiological functions of CDKs, as well as their roles in human cancer. The present review focuses on selected cell cycle kinases with recent emerging key functions in hematopoiesis and in hematopoietic malignancies, such as CDK6 and its role in MLL-rearranged leukemia and acute lymphocytic leukemia, CDK1 and its regulator WEE-1 in acute myeloid leukemia (AML), and cyclin C/CDK8/CDK19 complexes in T-cell acute lymphocytic leukemia. The knowledge gained from gene knockout experiments in mice of these kinases is also summarized. An overview of compounds targeting these kinases, which are currently in clinical development in various solid tumors and hematopoietic malignances, is presented. These include the CDK4/CDK6 inhibitors (palbociclib, LEE011, LY2835219), pan-CDK inhibitors that target CDK1 (dinaciclib, flavopiridol, AT7519, TG02, P276-00, terampeprocol and RGB 286638) as well as the WEE-1 kinase inhibitor, MK-1775. The advantage of combination therapy of cell cycle inhibitors with conventional chemotherapeutic agents used in the treatment of AML, such as cytarabine, is discussed. PMID:25914884

  6. Economics of Malignant Gliomas: A Critical Review

    PubMed Central

    Raizer, Jeffrey J.; Fitzner, Karen A.; Jacobs, Daniel I.; Bennett, Charles L.; Liebling, Dustin B.; Luu, Thanh Ha; Trifilio, Steven M.; Grimm, Sean A.; Fisher, Matthew J.; Haleem, Meraaj S.; Ray, Paul S.; McKoy, Judith M.; DeBoer, Rebecca; Tulas, Katrina-Marie E.; Deeb, Mohammed; McKoy, June M.

    2015-01-01

    Purpose: Approximately 18,500 persons are diagnosed with malignant glioma in the United States annually. Few studies have investigated the comprehensive economic costs. We reviewed the literature to examine costs to patients with malignant glioma and their families, payers, and society. Methods: A total of 18 fully extracted studies were included. Data were collected on direct and indirect costs, and cost estimates were converted to US dollars using the conversion rate calculated from the study's publication date, and updated to 2011 values after adjustment for inflation. A standardized data abstraction form was used. Data were extracted by one reviewer and checked by another. Results: Before approval of effective chemotherapeutic agents for malignant gliomas, estimated total direct medical costs in the United States for surgery and radiation therapy per patient ranged from $50,600 to $92,700. The addition of temozolomide (TMZ) and bevacizumab to glioblastoma treatment regimens has resulted in increased overall costs for glioma care. Although health care costs are now less front-loaded, they have increased over the course of illness. Analysis using a willingness-to-pay threshold of $50,000 per quality-adjusted life-year suggests that the benefits of TMZ fall on the edge of acceptable therapies. Furthermore, indirect medical costs, such as productivity losses, are not trivial. Conclusion: With increased chemotherapy use for malignant glioma, the paradigm for treatment and associated out-of-pocket and total medical costs continue to evolve. Larger out-of-pocket costs may influence the choice of chemotherapeutic agents, the economic implications of which should be evaluated prospectively. PMID:25466707

  7. Salivary gland malignant neoplasms: treatment and prognosis

    SciTech Connect

    Borthne, A.; Kjellevold, K.; Kaalhus, O.; Vermund, H.

    1986-05-01

    A retrospective analysis of 183 patients with malignant salivary gland tumors treated between 1955 and 1978 is presented. The analysis showed that radiation therapy lowered the recurrence rates after surgery and controlled approximately one-third of the inoperable tumors. A dose-response relationship exists and the data suggest that the radiation dose should not be less than that corresponding to a CRE-value of 1950 reu (70 Gy/7 weeks). Histology, location and clinical stage are important prognostic factors.

  8. Targeting autophagy to fight hematopoietic malignancies.

    PubMed

    Puissant, Alexandre; Robert, Guillaume; Auberger, Patrick

    2010-09-01

    Macroautophagy, referred hereafter to as autophagy is an evolutionary conserved catabolic process for the degradation and recycling of macromolecules, bulk cytoplasm and dammaged organelles. Autophagy is activated under stress conditions induced by nutrient deprivation, hypoxia and drug treatments. Morphologically, autophagic cells are characterized by the accumulation of double membrane cytoplasmic vesicules called autophagosomes that surrounds cytoplasmic proteins and/or organelles. Autophagosomes next fuse with lysosomes to generate autolysosomes, the structures in which the retained constituents are digested before recycling into the cytoplasm. In this context, autophagy promotes cell survival under adverse conditions. In contrast, under certain circumstances autophagic cells may engage a specific mode of cell death called type II cell death or autophagic cell death (ACD). Considering the strategic positionnement of this process at the crossroads of cell death and survival, it is not surprising that defects in autophagy have been linked to a plethora of human diseases, including hematopoietic malignancies. Finally, autophagy induction is repressed by the mammalian target of rapamycin complex 1 (mTORC1) and favored by the adenosine-monophosphate activated-protein kinase (AMPK). In the present review, we focus on the functions of autophagy in normal and malignant hematopoiesis and discuss the opportunity to target the AMPK/mTOR pathways as a new therapeutic strategy to fight hematopoietic malignancies with a special emphasis on Chronic Myelogenous Leukemia (CML).

  9. Malignant solitary fibrous tumor of the meninges.

    PubMed

    Ogawa, Kumiko; Tada, Toyohiro; Takahashi, Satoru; Sugiyama, Naotake; Inaguma, Shingo; Takahashi, Seishiro S; Shirai, Tomoyuki

    2004-05-01

    Increasing numbers of solitary fibrous tumors (SFTs) in the meninges have been reported since this entity was first recognized. While most cases previously reported were considered to be benign, the malignant potential of extrathoracic SFTs has not been excluded. The authors report a rare case of a meningeal SFT with malignant behavior occurring in a Japanese female patient, initially resected when she was 44 years old and recurring in the same place four times during a 26-year follow-up period. A metastatic tumor to the right lung arose 25 years after the resection of the first meningeal tumor and focal invasion into the cerebellum was also observed with her last (5th) meningeal tumor. Immunohistochemical analysis showed all tumors to be diffusely positive for CD34 and negative for EMA, with a so-called "patternless" histological pattern, featuring thin collagen fibers between tumor cells. A focal "staghorn" vascular pattern was also observed. Ki67 (MIB-1) labeling indices and mitosis rates were 3.1+/-1.2% and less than 1/10 high power fields (HPF) in the first meningeal tumor and 16.1+/-6.4% and 6/10HPF in the last (5th) one, respectively. Thus, the present case suggests that meningeal SFTs possess malignant potential so that careful long-term follow up is required.

  10. An intracranial malignant solitary fibrous tumor.

    PubMed

    Choi, Chan-Young; Han, Seong-Rok; Yee, Gi-Taek; Joo, Mee

    2011-04-01

    Intracranial malignant solitary fibrous tumor (SFT) is very rare. It was identified in a 39-year-old female patient who underwent malignant transformation over 6 months. MRI revealed an 8 × 5 × 6 cm mass with heterogenous strong enhancement in the left occipital lobe. Histologic findings and immunophenotype (positive for CD34, bcl-2 and vimentin, and negative for epithelial membrane antigen or S100 protein) of the primary tumor were typical of SFT. However, there was a focal area (<10% of tumor volume) showing hypercellularity, nuclear pleomorphism and increased Ki-67 labeling index (LI) of 10% (average, 1%). At the second operation, the recurrent tumor revealed full-blown histologic features of malignant SFT, such as infiltrative brain invasion, marked nuclear pleomorphism, frequent mitotic figures (15/10 high power fields), and high Ki-67 LI (25%). The presence of atypical histologic finding or increased Ki-67 LI in the typical SFT, although it is focal, needs to be mentioned in the diagnosis and also may require more aggressive surgical management.

  11. Leptin and its receptor in hematologic malignancies

    PubMed Central

    Han, Tian-Jie; Wang, Xin

    2015-01-01

    Leptin is an adipocyte-derived cytokine coded by the obese gene, not only regulates metabolism, but also participates in hematopoiesis. Aberrant leptin levels in patients with hematologic malignancies were observed and associates with clinical characters, such as body mass index (BMI), gender, blast cell percentage. Leptin concentrations alter while diseases progress or remission. Leptin receptor is expressed in hematopoietic CD34+ stem cells, erythrocytes, lymphocytes, blast cells and samples in leukemia and lymphoma patients. The adipokine stimulates cell proliferation, cytokine secretion and protects malignant cells from apoptosis through Janus kinase-signal transducer and activator of transcription (JAK-STAT), mitogen-activated protein kinase and extracellular signal activated kinase 1/2 (MAPK/ERK1/2), or 3 kinase (PI3K) signaling pathways. These findings indicate leptin signaling possibility take part in occurrence, progression and prognosis of hematologic malignancies. This article reviews leptin/leptin receptor expression and the correlations with clinical characters, treatment and prognosis in myeloid and lymphoid neoplasms. PMID:26884894

  12. Clinical aspects of malignant mesothelioma in Australia.

    PubMed

    Driscoll, T R; Baker, G J; Daniels, S; Lee, J; Thompson, R; Ferguson, D A; Leigh, J

    1993-02-01

    Australia is currently experiencing an epidemic of malignant mesothelioma. The clinical aspects of malignant mesothelioma were investigated in 295 Australian patients as part of a national study of the disease. Most patients were male (91%), with the mean age at diagnosis being 64 years. The predominant cell type was epithelial (38%) and the majority of primary tumours arose from the pleura (94%). Mean survival was poor (17.6 months from first symptom; 11.8 months from diagnosis). Patients with a pleural primary tumour were more likely to present with dyspnoea, chest pain and cough; to have a pleural effusion diagnosed radiologically; and to have metastatic spread. Patients with a peritoneal primary tumour were more likely to present with weight loss, loss of appetite, abdominal pain and ascites; to have radiologic evidence of asbestos exposure; and to have spread along a needle track created during a diagnostic tap. A minority of patients had past thoracic conditions, or radiologic findings, specifically related to previous asbestos exposure. About one fifth of patients had no known asbestos exposure. Forty-one per cent of subjects received some form of chemotherapy, radiotherapy and/or surgery, but no formal disease staging had been documented for any patient. Proper controlled trials of secondary and tertiary treatments in malignant mesothelioma are now needed.

  13. Targeting the Apoptosis Pathway in Hematologic Malignancies

    PubMed Central

    Zaman, Shadia; Wang, Rui; Gandhi, Varsha

    2014-01-01

    Apoptosis is a cell death program that is well-orchestrated for normal tissue homeostasis and for removal of damaged, old, or infected cells. It is regulated by intrinsic and extrinsic pathways. The intrinsic pathway responds to signals such as ultraviolet radiation or DNA damage and activates “executioner” caspases through a mitochondria-dependent pathway. The extrinsic pathway is activated by death signals induced, for example, by an infection that activates the immune system or receptor-mediated pathways. The extrinsic pathway signals also cascade down to executioner caspases that cleave target proteins and lead to cell death. Strict control of cellular apoptosis is important for the hematopoietic system as it has a high turnover rate. However, the apoptosis program is often deregulated in hematologic malignancies leading to the accumulation of malignant cells. Therefore, apoptosis pathways have been identified for development of anticancer therapeutics. We review here the proteins that have been targeted for anticancer drug development in hematologic malignancies. These include BCL-2 family proteins, death ligands and receptors, inhibitor of apoptosis family proteins, and caspases. Except for caspase activators, drugs that target each of these classes of proteins have advanced into clinical trials. PMID:24295132

  14. Malignant external otitis: early scintigraphic detection

    SciTech Connect

    Strashun, A.M.; Nejatheim, M.; Goldsmith, S.J.

    1984-02-01

    Pseudomonas otitis externa in elderly diabetics may extend aggressively to adjacent bone, cranial nerves, meninges, and vessels, leading to a clinical diagnosis of ''malignant'' external otitis. Early diagnosis is necessary for successful treatment. This study compares the findings of initial radiographs, thin-section tomography of temporal bone, CT scans of head and neck, technetium-99m methylene diphosphonate (MDP) and gallium-67 citrate scintigraphy, and single-photon emission computed tomography (SPECT) for detection of temporal bone osteomylitis in ten patients fulfilling the clinical diagnostic criteria of malignant external otitis. Skull radiographs were negative in all of the eight patients studied. Thin-section tomography was positive in one of the seven patients studied using this modality. CT scanning suggested osteomyelitis in three of nine patients. Both Tc-99m and Ga-67 citrate scintigraphy were positive in 10 of 10 patients. These results suggest that technetium and gallium scintigraphy are more sensitive than radiographs and CT scans for early detection of malignant external otitis.

  15. Giant malignant phyllodes tumour of breast.

    PubMed

    Krishnamoorthy, Ramakrishnan; Savasere, Thejas; Prabhuswamy, Vinod Kumar; Babu, Rajashekhara; Shivaswamy, Sadashivaiah

    2014-01-01

    The term phyllodes tumour includes lesions ranging from completely benign tumours to malignant sarcomas. Clinically phyllodes tumours are smooth, rounded, and usually painless multinodular lesions indistinguishable from fibroadenomas. Percentage of phyllodes tumour classified as malignant ranges from 23% to 50%. We report a case of second largest phyllodes tumour in a 35-year-old lady who presented with swelling of right breast since 6 months, initially small in size, that progressed gradually to present size. Examination revealed mass in the right breast measuring 36×32 cms with lobulated firm surface and weighing 10 kgs. Fine needle aspiration cytology was reported as borderline phyllodes; however core biopsy examination showed biphasic neoplasm with malignant stromal component. Simple mastectomy was done and specimen was sent for histopathological examination which confirmed the core biopsy report. Postoperatively the patient received chemotherapy and radiotherapy. The patient is on follow-up for a year and has not shown any evidence of metastasis or recurrence. PMID:25548696

  16. Two cases of uterine malignant lymphoma diagnosed by needle biopsy

    PubMed Central

    Ichimura, Tomoyuki; Murakami, Makoto; Matsuda, Makiko; Kawamura, Naoki; Sumi, Toshiyuki

    2015-01-01

    Abstract The incidence of primary malignant lymphoma arising in the female genital tract is extremely rare and constitutes approximately 0.05% of malignant tumors. Uterine malignant lymphoma develops in the endometrial stroma, causing minimal necrosis. It is therefore difficult to diagnose malignant lymphoma, as it does not involve genital bleeding or epithelial defects. We have performed transcervical needle biopsies from deep in the myometrium, with the purpose of diagnosing uterine muscle layer lesions, such as leiomyosarcoma, but this is an unusual method. In this report, we suggest that transcervical needle biopsy is useful in the diagnosis of uterine malignant lymphoma. PMID:26370331

  17. Malignancy arising in endometriosis associated with unopposed estrogen replacement.

    PubMed

    Reimnitz, C; Brand, E; Nieberg, R K; Hacker, N F

    1988-03-01

    Malignant transformation of endometriosis is a well documented phenomenon. Although it occurs most commonly in the ovaries, there have been approximately 50 reported cases of extraovarian malignant transformation of endometriosis. This paper presents two cases of malignancy arising from a dormant focus of endometriosis after total abdominal hysterectomy, bilateral salpingo-oophorectomy, and exogenous estrogen replacement therapy. These malignancies are often well differentiated and may behave similarly to estrogen-induced endometrial carcinomas. After surgical castration of a premenopausal woman with endometriosis, the use of progestins in replacement therapy may reduce the risk of malignancy arising in endometriosis.

  18. Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment.

    PubMed

    Hatori, Takayuki; Sugiyama, Yohei; Yamashita, Shinichiro; Hirakubo, Yuka; Nonaka, Kazuhito; Ichihashi, Ko

    2016-01-01

    In a patient with cardiofaciocutaneous syndrome complicated by intractable infantile spasms (West syndrome), cardiac hypertrophy developed during adrenocorticotropic hormone treatment. Various types of antiepileptic drugs, intravenous immunoglobulin, thyrotropin releasing hormone, and a ketogenic diet were ineffective in this case. However, vigabatrin both decreased clinical seizures and improved electroencephalogram findings. Although vigabatrin has not been approved for use in Japan, the results in the present case suggest that this drug should be considered as an alternative therapy for cases of infantile spasms associated with syndromes involving cardiomyopathy or its potential risk factors, such as cardiofaciocutaneous syndrome. PMID:27680485

  19. Identifying Thoracic Malignancies Through Pleural Fluid Biomarkers

    PubMed Central

    Porcel, José M.; Esquerda, Aureli; Martínez-Alonso, Montserrat; Bielsa, Silvia; Salud, Antonieta

    2016-01-01

    Abstract The diagnosis of malignant pleural effusions may be challenging when cytological examination of aspirated pleural fluid is equivocal or noncontributory. The purpose of this study was to identify protein candidate biomarkers differentially expressed in the pleural fluid of patients with mesothelioma, lung adenocarcinoma, lymphoma, and tuberculosis (TB). A multiplex protein biochip comprising 120 biomarkers was used to determine the pleural fluid protein profile of 29 mesotheliomas, 29 lung adenocarcinomas, 12 lymphomas, and 35 tuberculosis. The relative abundance of these predetermined biomarkers among groups served to establish the differential diagnosis of: malignant versus benign (TB) effusions, lung adenocarcinoma versus mesothelioma, and lymphoma versus TB. The selected putative markers were validated using widely available commercial techniques in an independent sample of 102 patients. Significant differences were found in the protein expressions of metalloproteinase-9 (MMP-9), cathepsin-B, C-reactive protein, and chondroitin sulfate between malignant and TB effusions. When integrated into a scoring model, these proteins yielded 85% sensitivity, 100% specificity, and an area under the curve (AUC) of 0.98 for labeling malignancy in the verification sample. For lung adenocarcinoma–mesothelioma discrimination, combining CA19-9, CA15-3, and kallikrein-12 had maximal discriminatory capacity (65% sensitivity, 100% specificity, AUC 0.94); figures which also refer to the validation set. Last, cathepsin-B in isolation was only moderately useful (sensitivity 89%, specificity 62%, AUC 0.75) in separating lymphomatous and TB effusions. However, this last differentiation improved significantly when cathepsin-B was used with respect to the patient's age (sensitivity 72%, specificity 100%, AUC 0.94). In conclusion, panels of 4 (i.e., MMP-9, cathepsin-B, C-reactive protein, chondroitin sulfate), or 3 (i.e., CA19-9, CA15-3, kallikrein-12) different protein

  20. Surgical Results of Symmetric and Asymmetric Surgeries and Dose-Response in Patients with Infantile Esotropia

    PubMed Central

    Yurdakul, Nazife Sefi; Bodur, Seda; Koç, Feray

    2015-01-01

    Objectives: To evaluate the results of symmetric and asymmetric surgery and responses to surgical amounts in patients with infantile esotropia. Materials and Methods: The records of patients with infantile esotropia who underwent bilateral medial rectus recession (symmetric surgery) and unilateral medial rectus recession with lateral rectus resection (asymmetric surgery) were analyzed. The results of the cases with symmetric (group 1) and asymmetric (group 2), successful (group 3) and failed (group 4) surgeries were compared, and responses to the amount of surgery were investigated. Results: There were no significant differences between group 1 (n=71) and group 2 (n=13) cases in terms of gender, refraction, preoperative distance deviation, anisometropia and postoperative deviation angles, binocular vision, surgical success or follow-up period (p>0.05). The rate of amblyopia, near deviation and amount of surgery were higher in group 2 cases (p<0.05). Between group 3 (n=64) and group 4 subjects (n=20), no significant differences were detected in terms of gender, surgical age, refraction, amblyopia, anisometropia, preoperative deviation angles, the number of symmetric and asymmetric surgeries, the amount of surgery, or postoperative binocular vision (p>0.05). The average postoperative follow-up period was 15.41±19.93 months (range, 6-98 months) in group 3 cases and 40.45±40.06 months (range, 6-143 months) in group 4 cases (p=0.000). No significant difference was detected in the amount of deviation corrected per 1 mm of surgical procedure between the successful cases in the symmetric and asymmetric groups (p>0.05). Conclusion: Symmetric or asymmetric surgery may be preferable in patients with infantile esotropia according to the clinical features. It is necessary for every clinic to review its own dose-response results. PMID:27800232

  1. Adrenal Function Testing Following Hormone Therapy for Infantile Spasms: Case Series and Review of Literature

    PubMed Central

    Mytinger, John R.; Bowden, Sasigarn A.

    2015-01-01

    Prednisolone and adrenocorticotropic hormone (ACTH) are “hormone” therapies for infantile spasms. There is limited data on the occurrence of decreased adrenal reserve or signs of clinical adrenal insufficiency after hormone therapy. This is a retrospective medical record review of patients referred to our Infantile Spasms Program. Our standardized infantile spasms management guideline began in September 2012 and initially included a post-hormone laboratory assessment of adrenal function. Medical records were assessed for hormone treatments, adrenal function testing, and signs of adrenal insufficiency. Forty-two patients who received one or both hormone therapies met inclusion criteria. A post-hormone laboratory assessment of adrenal function was done in 14 patients. Of these 14 patients, 2 had an abnormal laboratory assessment of adrenal function, both by adrenal stimulation testing – one after ACTH and one after prednisolone. One patient received hydrocortisone replacement and the other received stress dose hydrocortisone as needed; neither patient developed signs of adrenal insufficiency. Another patient treated with both types of hormone therapy in tandem, who did not have a post-hormone laboratory assessment, developed signs of mild adrenal insufficiency and required replacement hydrocortisone. Our study suggests that adrenal suppression can occur after modern hormone therapy regimens. We found two patients with abnormal adrenal function testing after hormone therapy and another patient with signs adrenal insufficiency. Given the seriousness of adrenal crisis, caregiver education on the signs of adrenal insufficiency is critical. Greater vigilance may be indicated in patients receiving both types of hormone therapy in tandem. Although a routine post-hormone laboratory assessment of adrenal function may not be feasible in all patients, replacement or stress dose hydrocortisone is necessary for all patients with suspected adrenal insufficiency. PMID

  2. [Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].

    PubMed

    Sudo, Akira; Hayashi, Yukiko; Sano, Hitomi; Kawamura, Nobuaki; Nishino, Ichizo; Nonaka, Ikuya

    2013-11-01

    Severe infantile form of nemaline myopathy is clinically characterized by marked muscle hypotonia and weakness with respiratory and feeding difficulties since infancy. Recently, mutations in the skeletal muscle alpha-actine gene (ACTA1) have been identified in many patients with the nemaline myopathy. We experienced two cases of severe infantile form of nemaline myopathy with ACTA1 mutation (missence heterozygous mutation;c.553C>T, p.R185C) in siblings presenting with different clinical symptoms and courses. The elder brother was a typical "floppy infant" at birth. Because he could not suck and swallow at all, he was fed completely through a nasogastric tube. At 2 months of age, he developed respiratory insufficiency and was placed on a respirator all day. He was diagnosed with having nemaline myopathy from his muscle biopsy, which revealed marked variation in muscle fiber size with large numbers of nemaline bodies on Gomori-trichrome stain. In contrast, the younger brother presented with mild muscular hypotonia and feeding difficulty during the neonatal stage;therefore, he was partly fed through a nasogastric tube. At 2 months of age, he was admitted to our hospital because of respiratory distress, and he required nasal continuous positive airway pressure with oxygen followed by noninvasive positive pressure ventilation intermittently, mainly at night. He was followed at his home by parents with no serious problems;however he unexpectedly died at the age of 15 months. Although most cases of severe infantile form of nemaline myopathy caused by ACTA1 mutations are sporadic and have no family history, we emphasize that clinical symptoms are variable in siblings with the same mutation. PMID:24313005

  3. Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

    PubMed Central

    Götz, Alexandra; Tyynismaa, Henna; Euro, Liliya; Ellonen, Pekka; Hyötyläinen, Tuulia; Ojala, Tiina; Hämäläinen, Riikka H.; Tommiska, Johanna; Raivio, Taneli; Oresic, Matej; Karikoski, Riitta; Tammela, Outi; Simola, Kalle O.J.; Paetau, Anders; Tyni, Tiina; Suomalainen, Anu

    2011-01-01

    Infantile cardiomyopathies are devastating fatal disorders of the neonatal period or the first year of life. Mitochondrial dysfunction is a common cause of this group of diseases, but the underlying gene defects have been characterized in only a minority of cases, because tissue specificity of the manifestation hampers functional cloning and the heterogeneity of causative factors hinders collection of informative family materials. We sequenced the exome of a patient who died at the age of 10 months of hypertrophic mitochondrial cardiomyopathy with combined cardiac respiratory chain complex I and IV deficiency. Rigorous data analysis allowed us to identify a homozygous missense mutation in AARS2, which we showed to encode the mitochondrial alanyl-tRNA synthetase (mtAlaRS). Two siblings from another family, both of whom died perinatally of hypertrophic cardiomyopathy, had the same mutation, compound heterozygous with another missense mutation. Protein structure modeling of mtAlaRS suggested that one of the mutations affected a unique tRNA recognition site in the editing domain, leading to incorrect tRNA aminoacylation, whereas the second mutation severely disturbed the catalytic function, preventing tRNA aminoacylation. We show here that mutations in AARS2 cause perinatal or infantile cardiomyopathy with near-total combined mitochondrial respiratory chain deficiency in the heart. Our results indicate that exome sequencing is a powerful tool for identifying mutations in single patients and allows recognition of the genetic background in single-gene disorders of variable clinical manifestation and tissue-specific disease. Furthermore, we show that mitochondrial disorders extend to prenatal life and are an important cause of early infantile cardiac failure. PMID:21549344

  4. Pediatric oncology at Hospital Infantil de Mexico: fifty-five years of accomplishment.

    PubMed

    Medina-Sanson, A; Martínez-Avalos, A; Gallegos-Castorena, S; Juárez-Villegas, L E; González-Montalvo, P; Perales-Arroyo, A; Gallegos-González, E; Ayometzi-Ouchi, M T

    2002-09-01

    The Department of Oncology at Hospital Infantil de México Federico Gómez (HIMFG) was the first unit in our country, and one of the first in Latin America, to specialize in the management of children with cancer. The HIMFG is part of the National Institutes of Health of Mexico, and is a reference hospital with research, educative, and tertiary care medical function. To date, the HIMFG and the Instituto Nacional de Pediatria are the principal medical centers in which children with cancer receive comprehensive care.

  5. Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.

    PubMed

    Hitomi, Yuki; Heinzen, Erin L; Donatello, Simona; Dahl, Hans-Henrik; Damiano, John A; McMahon, Jacinta M; Berkovic, Samuel F; Scheffer, Ingrid E; Legros, Benjamin; Rai, Myriam; Weckhuysen, Sarah; Suls, Arvid; De Jonghe, Peter; Pandolfo, Massimo; Goldstein, David B; Van Bogaert, Patrick; Depondt, Chantal

    2013-09-01

    We identified a small family with autosomal recessive, infantile onset epilepsy and intellectual disability. Exome sequencing identified a homozygous missense variant in the gene TNK2, encoding a brain-expressed tyrosine kinase. Sequencing of the coding region of TNK2 in 110 patients with a similar phenotype failed to detect further homozygote or compound heterozygote mutations. Pathogenicity of the variant is supported by the results of our functional studies, which demonstrated that the variant abolishes NEDD4 binding to TNK2, preventing its degradation after epidermal growth factor stimulation. Definitive proof of pathogenicity will require confirmation in unrelated patients.

  6. Mutations in TNK2 in severe autosomal recessive infantile-onset epilepsy

    PubMed Central

    Hitomi, Yuki; Heinzen, Erin L.; Donatello, Simona; Dahl, Hans-Henrik; Damiano, John A.; McMahon, Jacinta M.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Legros, Benjamin; Rai, Myriam; Weckhuysen, Sarah; Suls, Arvid; De Jonghe, Peter; Pandolfo, Massimo; Goldstein, David B.; Van Bogaert, Patrick; Depondt, Chantal

    2013-01-01

    We identified a small family with autosomal recessive, infantile-onset epilepsy and intellectual disability. Exome sequencing identified a homozygous missense variant in the gene TNK2, encoding a brain-expressed tyrosine kinase. Sequencing of the coding region of TNK2 in 110 patients with a similar phenotype failed to detect further homozygote or compound heterozygote mutations. Pathogenicity of the variant is supported by the results of our functional studies, which demonstrated that the variant abolishes NEDD4 binding to TNK2, preventing its degradation after epidermal growth factor stimulation. Definitive proof of pathogenicity will require confirmation in unrelated patients. PMID:23686771

  7. AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.

    PubMed

    Armstrong, L; Biancheri, R; Shyr, C; Rossi, A; Sinclair, G; Ross, C J; Tarailo-Graovac, M; Wasserman, W W; van Karnebeek, C D M

    2014-08-01

    We report the second family with AIMP1 deficiency, due to a homozygous truncating AIMP1 (g.107248613 C > T) mutation. This female showed early-onset developmental arrest, intractable epileptic spasms, microcephaly, and a rapid clinical course leading to premature death, associated with cerebral atrophy and myelin deficiency on brain MRI. Clinical and neuroimaging findings are consistent with a primary neuronal degenerative disorder, rather than with the previously reported Perlizaeus-Merzbacher-like phenotype. Given its critical role in neurofilament assembly 16, impaired myelin formation is due to neuronal/axonal dysfunction. We propose that AIMP1 deficiency be added to the differential diagnosis of infantile onset, progressive neurodegenerative disease.

  8. A handheld wireless device for diffuse optical spectroscopic assessment of infantile hemangiomas

    NASA Astrophysics Data System (ADS)

    Fong, Christopher J.; Flexman, Molly; Hoi, Jennifer W.; Geller, Lauren; Garzon, Maria; Kim, Hyun K.; Hielscher, Andreas H.

    2013-03-01

    Infantile hemangiomas (IH) are common vascular growths that occur in 5-10% of neonates and have the potential to cause disfiguring and even life-threatening complications. With no objective tool to monitor IH, a handheld wireless device (HWD) that uses diffuse optical spectroscopy has been developed for use in assessment of IH by measurements in absolute oxygenated and deoxygenated hemoglobin concentration as well as scattering in tissue. Reconstructions of these variables can be computed using a multispectral evolution algorithm. We validated the new system by experimental studies using phantom experiments and a clinical study is under way to assess the utility of DOI for IH.

  9. [Assessment of stress in childhood: Children's Daily Stress Inventory (Inventario Infantil de Estresores Cotidiano, IIEC)].

    PubMed

    Trianes Torres, María Victoria; Blanca Mena, María José; Fernández Baena, Francisco J; Escobar Espejo, Milagros; Maldonado Montero, Enrique F; Muñoz Sánchez, Angela María

    2009-11-01

    The present study introduces the Children's Daily Stress Inventory (Inventario Infantil de Estresores Cotidianos, IIEC) as a measure that assesses daily stress in primary school children. The inventory was applied to a sample of 1094 primary school students. The final version includes 25 dichotomic items covering the areas of health, school/peers, and family. The score is obtained by adding the total of positive answers. Analyses of items, reliability and several external pieces of evidence of validity based on relations with other variables are presented. The results show adequate psychometric properties for the assessment of daily stress in children.

  10. First report of congenital or infantile cataract in deranged proteoglycan metabolism with released xylose

    PubMed Central

    Sulochana, K; Ramakrishnan, S; Vasanthi, S; Madhavan, H; Arunagiri, K; Punitham, R

    1997-01-01

    AIM—To investigate the chemical pathology in the blood and lens, in cases of congenital or infantile cataract in children excreting predominantly non-reducing carbohydrates in urine.
METHODS—Urine samples from children with congenital or infantile cataract, and age and sex-matched controls, were analysed for (i) inherited errors of metabolism, (ii) paper chromatography of sugars, (iii) spectrophotometric assay of glycosaminoglycans (GAG), (iv) cetyl trimethyl ammonium bromide test, (v) electrophoresis using Alcian blue, (vi) ion exchange chromatography with IR 120 resin, and (vii) HPLC for xylose. Blood and lens material were also tested for GAG fragments and xylose. β Glucuronidase was assayed in lymphocytes and urine.
RESULTS—Of 220 children of both sexes below 12 years of age, with congenital or infantile cataract treated in Sankara Nethralaya, Madras, India, during a period of 2 years, 145 excreted fragments of GAG (heparan and chondroitin sulphates) in their urine. There was no such excretion among the control group of 50 children. The same was found accumulated in the blood and lenses of affected children. In addition, xylose was present in small amounts in the urine and blood and xylitol was present in the lens. There was a significant elevation in the activity of β glucuronidase in lymphocytes and urine, when compared with normals. All the above findings suggest deranged proteoglycan metabolism. As the urine contained mostly GAG fragments and very little xylose, Benedict's reagent was not reduced. This ruled out galactosaemia.
CONCLUSION—An increase of β glucuronidase activity might have caused extensive fragmentation of GAG with resultant accumulation in the blood and lens and excretion in urine. Small amounts of xylose may have come from xylose links between GAG and core protein of proteoglycans. Owing to their polyanionic nature, GAG fragments in the lens might abstract sodium, and with it water, thereby increasing the hydration

  11. Visual Outcomes and Complications of Piggyback Intraocular Lens Implantation Compared to Aphakia for Infantile Cataract

    PubMed Central

    Joshaghani, Mahmood; Soleimani, Mohammad; Foroutan, Alireza; Yaseri, Mehdi

    2015-01-01

    Purpose: To evaluate the long-term visual outcomes and complications of the piggyback intraocular lens (IOL) implantation compared to aphakia for infantile cataract. Patients and Methods: In a comparative study from 1998 to 2007, piggyback IOL implantation (piggyback IOL group) was performed for 14 infants (23 eyes) with infantile cataract and 20 infants (32 eyes) who were aphakic (aphakia group) after infantile cataract surgery. Data were collected on logMAR visual acuity, and postoperative complications over a mean follow-up time of 6.2 ± 1.7 years and 5.8 ± 1.7 years. Results: The mean age at surgery was 7.5 ± 0.6 months and 6.0 ± 3.3 months for the piggyback and the aphakic group respectively (P > 0.05). At the last follow-up visit, visual acuity was 0.85 ± 0.73 (median = 0.70, interquartile range = 0.3–1.32) in the piggyback IOL group and 0.89 ± 0.56 (median = 0.86, interquartile range = 0.50–1.24) in the aphakic group (P > 0.05). There was a positive relationship between age and visual outcomes in the aphakic group (r = 0.4, P = 0.04) but not in the piggyback IOL group (P = 0.48). There was no significant difference between the mean myopic shift in the piggyback IOL group (∑5.28 ± 1.06 D) and the aphakic group (∑5.10 ± 1.02 D) (P > 0.05). The incidence of reoperation due to complications in piggyback IOL group was higher than aphakic group (%48 vs. %16, respectively, P ≤ 0.01). However, in patients older than 6 months, this risk was not significantly different compared to the aphakic group. Conclusions: Although piggyback IOL implantation for infantile cataract is optically acceptable as a treatment option, there is no significant difference in visual outcomes compared to aphakia. The incidence in reoperation due to complications in patients aged 6 months or younger is higher than those treated with aphakia. PMID:26692724

  12. A hydrogel-endothelial cell implant mimics infantile hemangioma: modulation by survivin and the Hippo pathway.

    PubMed

    Tsuneki, Masayuki; Hardee, Steven; Michaud, Michael; Morotti, Raffaella; Lavik, Erin; Madri, Joseph A

    2015-07-01

    Microvascular endothelial cells cultured in three-dimensional hydrogel scaffolds form a network of microvessel structures when implanted subcutaneously in mice, inosculate with host vessels, and over time remodel into large ectatic vascular structures resembling hemangiomas. When compared with infantile hemangiomas, similarities were noted, including a temporal progression from a morphological appearance of a proliferative phase to the appearance of an involuted phase, mimicking the proliferative and involutional phases of infantile hemangioma. Consistent with the progression of a proliferative phase to an involuted phase, both the murine implants and human biopsy tissue exhibit reduced expression of Ajuba, YAP, and Survivin labeling as they progressed over time. Significant numbers of CD45+, CD11b+, Mac3+ mononuclear cells were found at the 2-week time point in our implant model that correlated with the presence of CD45+, CD68+ mononuclear cells observed in biopsies of human proliferative-phase hemangiomas. At the 4-week time point in our implant model, only small numbers of CD45+ cells were detected, which again correlated with our findings of significantly diminished CD45+, CD68+ mononuclear cells in human involutional-phase hemangiomas. The demonstration of mononuclear cell infiltration transiently in the proliferative phase of these lesions suggests that the vascular proliferation and/or regression may be driven in part by an immune response. Gross and microscopic morphological appearances of human proliferative and involutional hemangiomas and our implant model correlate well with each other as do the expression levels of Hippo pathway components (Ajuba and YAP) and Survivin and correlate with proliferation in these entities. Inhibitors of Survivin and Ajuba (which we have demonstrated to inhibit proliferation and increase apoptosis in murine hemangioendothelioma cell tissue culture) may have potential as other beneficial treatments for proliferating

  13. [Neuropsychological studies of the gnostic processes in children with various forms of infantile cerebral palsy].

    PubMed

    Mamaĭchuk, I I

    1992-01-01

    Psychometric and neuropsychological studies were carried out in 182 patients with three forms of infantile cerebral paralysis (ICP). Of these, 112 children presented with spastic diplegia, 50 with hemiparetic diplegia, and 20 with hyperkinetic diplegia. The children's age ranged from 8 to 14 years. Depending on the form of ICP, the structural characteristics of intellect were defined as were specific features of the development of higher cortical functions depending on the localization of the underdevelopment of different brain areas. The classification of the structure of the disorders with the aid of the methods used makes it possible to have a differentiated approach to the medical and pedagogical correction of those patients. PMID:1333706

  14. Radiological Changes in Infantile Dissecting Anterior Communicating Artery Aneurysm Treated Endovascularly

    PubMed Central

    Yatomi, Kenji; Oishi, Hidenori; Yamamoto, Munetaka; Suga, Yasuo; Nonaka, Senshu; Yoshida, Kensaku; Arai, Hajime

    2014-01-01

    Summary Intracranial aneurysms are extremely rare in infants, and to our knowledge only seven infants treated for ruptured spontaneous dissecting aneurysms have been reported. Good outcomes have been achieved with endovascular treatment of infantile aneurysm. We the endovascular treatment of a one-month-old girl for ruptured dissecting aneurysm located in the anterior communicating artery, and the unique radiological changes that were observed during the perioperative and follow-up periods. These changes suggest that blood coagulation and fibrinolytic response play a part in the repair and healing processes of dissecting aneurysms. Careful neuroradiological surveys are needed for pediatric dissecting aneurysms treated endovascularly. PMID:25496693

  15. A Hydrogel-Endothelial Cell implant Mimics Infantile Hemangioma: Modulation by Survivin and the Hippo pathway*

    PubMed Central

    Tsuneki, Masayuki; Hardee, Steven; Michaud, Michael; Morotti, Raffaella; Lavik, Erin; Madri, Joseph A.

    2015-01-01

    Microvascular endothelial cells cultured in three-dimensional hydrogel scaffolds form a network of microvessel structures when implanted subcutaneously in mice, inosculate with host vessels and over time remodel into large ectatic vascular structures resembling hemangiomas. When compared to infantile hemaniomas similarities were noted including a temporal progression from a morphological appearance of a proliferative phase to the appearance of an involuted phase mimicking the proliferative and involutional phases of infantile hemangioma. Consistent with the progression of a proliferative phase to an involuted phase, both the murine implants and human biopsy tissue exhibit reduced expression of Ajuba, YAP and Survivin labeling as they progressed over time. Significant numbers of CD45+, CD11b+, Mac3+ mononuclear cells were found at the 2 week time point in our implant model which correlated with the presence of CD45+, CD68+ mononuclear cells observed in biopsies of human proliferative phase hemangiomas. At the 4 week time point in our implant model only small numbers of CD45+ cells were detected, which again correlated with our findings of significantly diminished CD45+, CD68+ mononuclear cells in human involutional phase hemangiomas. The demonstration of mononuclear cell infiltration transiently in the proliferative phase of these lesions suggests that the vascular proliferation and/or regression may be driven in part by an immune response. Gross and microscopic morphological appearances of human proliferative and involutional hemangiomas and our implant model correlate well with each other as do the expression levels of Hippo pathway components (Ajuba and YAP) and Survivin and correlate with proliferation in these entities. Inhibitors of Survivin and Ajuba (which we have demonstrated to inhibit proliferation and increase apoptosis in murine hemangioma cell tissue culture) may have potential as other beneficial treatments for proliferating infantile hemangiomas

  16. The changing profile of infantile tremor syndrome in hilly terrain of India

    PubMed Central

    Singla, Deeksha A.; Sharma, Milap; Sharma, Seema; Sharma, Vipin

    2015-01-01

    Background: Infantile tremor syndrome (ITS) is characterized by anemia, skin pigmentation, tremors, physical, and mental regression without a defined etiopathogenesis and low incidence. Materials and Methods: We have studied 9 patients over 1 year for the changing clinical and laboratory variables of patients with ITS. Neuroregression and anemia were presented in all followed by tremors in 5 and hypotonia in 2. Result: Sepsis screen was positive in 6 and urine cultures in 2. Antibiotics were required in 6. ITS with changing parameters still significantly contributes to healthcare burden. Conclusion: It is important to screen for urinary infection and septicemia to avoid antibiotic abuse. PMID:26752914

  17. Infantile perianal pyramidal protrusion: a case report with dermoscopy and ultrasound findings

    PubMed Central

    Lamberti, Arianna; Filippou, Georgios; Adinolfi, Antonella; Fimiani, Michele; Rubegni, Pietro

    2015-01-01

    Infantile perianal pyramidal protrusion, it is a rare benign cutaneous condition described in relatively recent times. It is considered to be under-reported in the pediatric literature because it is often mistaken for other conditions. The unawareness of this lesion may be responsible for an excessive concern both in physician and in parents, which leads to overly aggressive and unnecessary treatments. Thus its recognition has many implications regarding proper management and treatment. We report a typical presentation of IPPP in which the diagnosis was based on the use of non-invasive diagnostic tools and in particular of dermoscopy and ultrasonography. PMID:26114069

  18. Noninclusion-body infantile digital fibromatosis: a lesion heralding terminal osseous dysplasia and pigmentary defects syndrome.

    PubMed

    Drut, Ricardo; Pedemonte, Luis; Rositto, Alicia

    2005-04-01

    This report describes the histologic and immunohistochemical features of a peculiar type of digital fibroma that shares some clinical and microscopic features with the more common inclusion-body type infantile digital fibromatosis. However, this type does not exhibit inclusion bodies and its cells are reactive for vimentin but not for actin. Significantly, it presents in combination with a constellation of other clinical findings, i.e., mainly positional and bone abnormalities of the fingers and toes, and skin pigmentary defects. Thus, noninclusion-body digital fibromatosis may represent the first clue for the diagnosis of the so-called terminal osseous dysplasia and pigmentary defects syndrome.

  19. Ewing's Sarcoma as a Second Malignancy in Long-Term Survivors of Childhood Hematologic Malignancies

    PubMed Central

    Grotzer, Michael A.; Niggli, Felix; Zimmermann, Dieter; Rushing, Elisabeth

    2016-01-01

    Modern multimodal treatment has significantly increased survival for patients affected by hematologic malignancies, especially in childhood. Following remission, however, the risk of developing a further malignancy is an important issue. The long-term estimated risk of developing a sarcoma as a secondary malignancy is increased severalfold in comparison to the general population. Ewing's sarcoma family encompasses a group of highly aggressive, undifferentiated, intra- and extraosseous, mesenchymal tumors, caused by several types of translocations usually involving the EWSR1 gene. Translocation associated sarcomas, such as Ewing sarcoma, are only rarely encountered as therapy associated secondary tumors. We describe the clinical course and management of three patients from a single institution with Ewing's sarcoma that followed successfully treated lymphoblastic T-cell leukemia or non-Hodgkin lymphoma. The literature on secondary Ewing's sarcoma is summarized and possible pathogenic mechanisms are critically discussed. PMID:27524931

  20. Ewing's Sarcoma as a Second Malignancy in Long-Term Survivors of Childhood Hematologic Malignancies.

    PubMed

    Wolpert, Fabian; Grotzer, Michael A; Niggli, Felix; Zimmermann, Dieter; Rushing, Elisabeth; Bode-Lesniewska, Beata

    2016-01-01

    Modern multimodal treatment has significantly increased survival for patients affected by hematologic malignancies, especially in childhood. Following remission, however, the risk of developing a further malignancy is an important issue. The long-term estimated risk of developing a sarcoma as a secondary malignancy is increased severalfold in comparison to the general population. Ewing's sarcoma family encompasses a group of highly aggressive, undifferentiated, intra- and extraosseous, mesenchymal tumors, caused by several types of translocations usually involving the EWSR1 gene. Translocation associated sarcomas, such as Ewing sarcoma, are only rarely encountered as therapy associated secondary tumors. We describe the clinical course and management of three patients from a single institution with Ewing's sarcoma that followed successfully treated lymphoblastic T-cell leukemia or non-Hodgkin lymphoma. The literature on secondary Ewing's sarcoma is summarized and possible pathogenic mechanisms are critically discussed. PMID:27524931