18 results on '"C. Casamassima"'
Search Results
2. Trisomy 5 mosaicism in amniotic fluid with normal outcome
- Author
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Lawrence R. Shapiro, Maurice J. Mahoney, Anthony C. Casamassima, Patrick L. Wilmot, and Robin V. Scott
- Subjects
Adult ,Male ,medicine.medical_specialty ,Amniotic fluid ,Pregnancy, High-Risk ,Aneuploidy ,Trisomy ,Prenatal diagnosis ,Fetal blood sampling ,Pregnancy ,Genetics ,medicine ,Humans ,Genetics (clinical) ,Fetus ,medicine.diagnostic_test ,Mosaicism ,business.industry ,Obstetrics ,Infant, Newborn ,Amniotic Fluid ,Fetal Blood ,Prognosis ,medicine.disease ,Amniocentesis ,Chromosomes, Human, Pair 5 ,Female ,business ,Maternal Age - Abstract
A case of prenatally diagnosed true mosaicism for trisomy 5 with a clinically normal outcome is presented. Trisomy 5 was detected in 23% of cells obtained by amniocentesis, but it was not detected from cells obtained by fetal blood sampling. While in this case the finding at amniocentesis did not reflect the status of the fetus, care must be exercised in reaching this conclusion in all cases.
- Published
- 2008
3. Spontaneous Pneumopericardium
- Author
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Anthony C. Casamassima, Timothy Sternberg, and Fred H. Weiss
- Subjects
medicine.medical_specialty ,business.industry ,Physical Therapy, Sports Therapy and Rehabilitation ,030229 sport sciences ,Pneumopericardium ,medicine.disease ,Weight lifting ,Surgery ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Orthopedics and Sports Medicine ,030212 general & internal medicine ,Link (knot theory) ,business - Published
- 1991
4. [Important risk factors for venous thromboembolism. Analysis of 758 patients studied at a thrombosis center]
- Author
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A P, Cellai, R, Marcucci, W, Bialek, A, Alessandrello Liotta, A, Rogolino, A, Gazzini, C, Papi, C, Casamassima, D, Prisco, and R, Abbate
- Subjects
Male ,Venous Thrombosis ,Risk Factors ,Thromboembolism ,Humans ,Female ,Middle Aged - Published
- 2000
5. Disomic balanced reciprocal translocation
- Author
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Patrick L. Wilmot, Lawrence R. Shapiro, and Anthony C. Casamassima
- Subjects
Male ,Genetics ,Genetic Carrier Screening ,Infant ,Chromosome ,Genetic Counseling ,Chromosomal translocation ,Consanguinity ,Biology ,Phenotype ,Translocation, Genetic ,Infantile seizures ,Humans ,Chromosomes, Human, Pair 3 ,Pseudolinkage ,Spasms, Infantile ,Gene ,Chromosomes, Human, Pair 16 ,Genetics (clinical) - Abstract
The previously unreported and unique finding of a complete disomy of an apparently balanced reciprocal translocation is described. The parents are second cousins once removed and each parent contributed the same balanced reciprocal translocation chromosome. Although the complete disomy involves balanced translocation chromosomes from unaffected parents, it is possible that a hemizygous state of some genes may be present on each translocation chromosome, which in a disomic homozygous state could result in an abnormal phenotype, as manifested by infantile seizures in this patient.
- Published
- 2008
6. Multiple meningiomas in a patient with constitutional ring chromosome 22
- Author
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Seymour Levine, Lawrence R. Shapiro, Kunjlata D. Ashar, Anthony C. Casamassima, Patrick L. Wilmot, and Rena Petrella
- Subjects
Male ,Pathology ,medicine.medical_specialty ,Adolescent ,Chromosomes, Human, Pair 22 ,Ring chromosome ,Autopsy ,Biology ,Psammomatous Meningioma ,Meningioma ,Neoplasms, Multiple Primary ,Intellectual Disability ,otorhinolaryngologic diseases ,medicine ,Meningeal Neoplasms ,Humans ,Abnormalities, Multiple ,Ring Chromosomes ,neoplasms ,Genetics (clinical) ,Multiple meningiomas ,Genetics ,medicine.disease ,Tentorium ,nervous system diseases ,Abnormality ,Chromosome 22 - Abstract
We report on a patient with multiple congenital anomalies and ring chromosome 22 who died at age 16 years of bronchopneumonia. Autopsy documented multiple psammomatous meningiomas of the spinal dura and tentorium. Tumor tissue for cytogenetic analysis was not available. Although abnormalities of chromosome 22 in tumor tissue have been reported, to our knowledge, this is only the third report of a constitutional chromosome 22 abnormality associated with the development of meningiomas. Thus, a constitutional chromosome 22 abnormality may predispose to the development of meningiomas.
- Published
- 1993
7. Kallmann syndrome associated with complex chromosome rearrangement
- Author
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Patrick L. Wilmot, Anthony C. Casamassima, Betsy K. Vibert, and Lawrence R. Shapiro
- Subjects
Genetics ,Adult ,Chromosome Aberrations ,Male ,medicine.medical_specialty ,Autosome ,Chromosomes, Human, Pair 12 ,integumentary system ,Kallmann syndrome ,Cytogenetics ,Chromosomal translocation ,Karyotype ,Chromosomal rearrangement ,Kallmann Syndrome ,Biology ,medicine.disease ,Translocation, Genetic ,Hypogonadotropic hypogonadism ,Karyotyping ,medicine ,Humans ,Chromosomes, Human, Pair 3 ,Abnormality ,Chromosomes, Human, Pair 9 ,Genetics (clinical) - Abstract
We report on a male with Kallmann syndrome (KS) and an apparently balanced complex chromosome rearrangement (CCR): 46,XY,t(3; 9)(9;12)(q13.2;q21.2p13;q15). This is the first known report of a CCR in the KS and the second reported case of a definitive autosomal chromosome abnormality with KS. Possible relationships between the cytogenetic abnormality and KS are discussed.
- Published
- 1993
8. Prader-Willi syndrome and Robertsonian translocations involving chromosome 15
- Author
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Lawrence R. Shapiro, Patrick L. Wilmot, Anthony C. Casamassima, and Karen Berk Smith
- Subjects
Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Robertsonian translocation ,High resolution ,Chromosomal translocation ,Biology ,medicine.disease_cause ,Translocation, Genetic ,Dicentric chromosome ,Chromosome 15 ,Genetics ,medicine ,Humans ,In patient ,Genetics (clinical) ,Chromosomes, Human, Pair 15 ,Chromosomes, Human, Pair 13 ,Cytogenetics ,nutritional and metabolic diseases ,Karyotype ,nervous system diseases ,Karyotyping ,Chromosome Deletion ,Prader-Willi Syndrome - Abstract
A case of Prader-Willi syndrome is presented in which high resolution chromosome analysis revealed not only a familial Robertsonian translocation [t(13q15q)], but also a del(15) (q11.2q13) of the chromosome 15 not involved in the translocation. While there have been numerous reports of Robertsonian translocations involving chromosome 15 in patients with Prader-Willi syndrome, in this case, the Robertsonian translocation was shown to be unrelated to the clinical findings.
- Published
- 1991
9. Cytogenetic diagnosis of the fragile X syndrome: efficiency, utilization, and trends
- Author
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Patrick L. Wilmot, Deborah A. Shapiro, Anthony C. Casamassima, Lawrence R. Shapiro, and Isabel M. Pettersen
- Subjects
Male ,Pediatrics ,medicine.medical_specialty ,Fragile x ,Referral ,business.industry ,X fragile syndrome ,Mentally retarded ,medicine.disease ,Fragile X syndrome ,Genetic Techniques ,Evaluation Studies as Topic ,Fragile X Syndrome ,Intellectual Disability ,medicine ,Humans ,Female ,Genetic Testing ,Family history ,business ,Genetics (clinical) - Abstract
In order to assess the impact of the increasing awareness of the fra(X) syndrome and a broader approach to fra(X) testing, we analyzed our laboratory experience for 1980-1988. In 1981–1986, there was an avearage of 80 cases/year (62 male; 18 female). The 103 (74 male; 29 female) cases in 1987 represent a 45% increase over the prior 3 years; this sustained in 1988 with 106 cases. The fra(X) positive yield decreased from a high of 49% in 1980 to an average of 20% (range 15–24%) in 1981–1984, 10% (range 9–11%), in 1985–1987 and 7% in 1988. The positive rate for males and females was nearly identical in both time periods. The positive yield for mentally retaded individuals with a family history of mental retardation dropped from an average of 20% for 1981–1984 and 33% for 1985–87 to 13% for 1988; hopwever, the positive fra(X) rate for mentally retarded individuals decreased from an average of 23% in 1981–1984 to 9% in 1985–1987 and 7% in 1988. The decreasing fra(X) yield and increasing case load are directly attributable to the relaxation of criteria for referral and testing related to the referral of all mentally retarded patients, and to the perceived malpractice liability for not doing a “complete” evaluation. Although the burden for cytogenetic laboratories is considerable, the yield of positive fra(X) cases is still worthwhile, and may be maximized by the use of improved screening criteria.
- Published
- 1991
10. Deletion of 16q with prolonged survival and unusual radiographic manifestations
- Author
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Robert M. Klein, Lawrence R. Shapiro, Pauline Brenholz, Anthony C. Casamassima, and Patrick L. Wilmot
- Subjects
Male ,Microcephaly ,Pathology ,medicine.medical_specialty ,Survival into adulthood ,Adolescent ,Foot Deformities, Congenital ,Radiography ,Biology ,Facial Bones ,Thoracic Vertebrae ,Chromosome 16 ,Intellectual Disability ,medicine ,Humans ,Abnormalities, Multiple ,Genetics (clinical) ,Genetics ,Lumbar Vertebrae ,business.industry ,Chromosome Fragility ,Karyotype ,medicine.disease ,Phenotype ,Chromosome Banding ,Chromosome abnormality ,Spinal Diseases ,Chromosome Deletion ,business ,Chromosomes, Human, Pair 16 - Abstract
Deletion of 16q is characterized by mental retardation, microcephaly, a characteristic combination of minor facial anomalies, and broad halluces. Various break points have been described. This patient's phenotype is typical of this syndrome, but in addition, unusual radiographic findings were present. This chromosome abnormality is compatible with survival into adulthood. Expression of this phenotype does not appear to be correlated with specific break points.
- Published
- 1990
11. Spoliation of Evidence and Medical Malpractice
- Author
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Anthony C. Casamassima
- Published
- 1994
12. A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects
- Author
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Anthony C. Casamassima, John M. Opitz, Charles W. Moncure, Igor M. Gladstone, Peter Mamunes, James F. Reynolds, and Stuart Solomon
- Subjects
Male ,Genetics ,congenital, hereditary, and neonatal diseases and abnormalities ,Autosomal recessive inheritance ,Infant, Newborn ,Mutant gene ,Infant ,nutritional and metabolic diseases ,Syndrome ,Biology ,medicine.disease ,Joubert syndrome ,Pleiotropy ,Cerebellum ,Child, Preschool ,medicine ,Humans ,Abnormalities, Multiple ,Female ,Smith lemli opitz ,Meckel syndrome ,Genetics (clinical) - Abstract
The Smith-Lemli-Opitz syndrome (SLOS) and the Meckel syndrome (MS) have been regarded as separate autosomal recessive entities. Recently, overlap of these two syndromes has been discussed. A sibship containing a probable new syndrome with features reminiscent of the SLOS and the MS is presented. The literature is reviewed with regard to the frequency of various malformations in these syndromes. Clinical manifestations and cerebellar abnormalities in these sibs are similar to those described in the Joubert syndrome (JS). These three cases may represent a new syndrome with features in common with SLOS, MS, and JS resulting from the same mutant gene, which exhibits considerable pleiotropy.
- Published
- 1987
13. Wrinkly skin syndrome: Phenotype and additional manifestations
- Author
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Charles J. Conlon, Anthony C. Casamassima, Stanton K. Wesson, James F. Reynolds, John M. Opitz, and Fred H. Weiss
- Subjects
Dorsum ,medicine.medical_specialty ,Microcephaly ,Connective tissue ,Heart Septal Defects, Atrial ,Elastic recoil ,Intellectual Disability ,Humans ,Medicine ,Abnormalities, Multiple ,Child ,Genetics (clinical) ,Skin ,Atrial septal aneurysm ,integumentary system ,business.industry ,Skin abnormality ,Syndrome ,Elastic Tissue ,medicine.disease ,Phenotype ,Dermatology ,body regions ,medicine.anatomical_structure ,Skin Abnormalities ,Female ,business ,Wrinkly skin syndrome - Abstract
The wrinkly skin syndrome is an autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, multiple musculoskeletal abnormalities, microcephaly, and mental retardation. Our patient is characteristic of the syndrome as previously described, and confirms the presence of mental retardation and microcephaly as component manifestations, with the additional findings of connective tissue abnormalities evidenced by an atrial septal aneurysm.
- Published
- 1987
14. TC-83 Venezuelan equine encephalitis vaccine exposure during pregnancy
- Author
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Aileen Marty, Anthony C. Casamassima, and L. Wayne Hess
- Subjects
Adult ,Encephalomyelitis, Equine ,Embryology ,viruses ,Health, Toxicology and Mutagenesis ,Alphavirus ,Toxicology ,Vaccines, Attenuated ,Peripheral blood mononuclear cell ,Virus ,Pregnancy ,Hydrops fetalis ,medicine ,Edema ,Humans ,Seroconversion ,Pregnancy Complications, Infectious ,Equine Encephalitis ,Fetal Death ,biology ,business.industry ,virus diseases ,Encephalomyelitis, Venezuelan Equine ,medicine.disease ,biology.organism_classification ,Virology ,Togaviridae ,Immunology ,Female ,business ,Developmental Biology - Abstract
A human pregnancy exposed to TC-83 live attenuated Venezuelan equine encephalitis (VEE) virus vaccine resulted in hydrops fetalis and fetal demise. Maternal seroconversion and the finding of a diffuse mononuclear cell infiltrate on postmortem examination are suggestive of a causative role for TC-83 vaccine.
- Published
- 1987
15. Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship
- Author
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Anthony C. Casamassima, Thaddeus Kelly, Robin J. Caldwell, Barry Wolf, Walter E. Nance, Cynthia C. Morton, and Michael B. Kodroff
- Subjects
Bone Diseases, Developmental ,Genitourinary system ,business.industry ,Genes, Recessive ,Anatomy ,Syndrome ,Vertebral anomalies ,medicine.disease ,Spondylocostal dysostosis ,Spine ,Pedigree ,Anus, Imperforate ,Consanguinity ,Anal atresia ,Urogenital Abnormalities ,Vertebral abnormalities ,medicine ,Differential diagnosis ,Imperforate anus ,business ,Jarcho-Levin syndrome ,Genetics (clinical) - Abstract
Spondylocostal dysostosis, anal atresia, and urogenital anomalies were observed in two male infants of a consanguineous Mennonite couple. A careful review of previously reported syndromes of severe vertebral abnormalities and/or imperforate anus suggests that our patients have a previously undescribed recessive disorder that should be included in the differential diagnosis of rib and vertebral anomaly syndromes.
- Published
- 1981
16. Acrocallosal syndrome: additional manifestations
- Author
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Paul Woolf, Lawrence R. Shapiro, Marc A. Horowitz, Michael H. Gewitz, Anthony C. Casamassima, Isabel M. Pettersen, and Debra Beneck
- Subjects
Male ,Pediatrics ,medicine.medical_specialty ,education ,Heart defect ,Genes, Recessive ,Corpus callosum ,Visceral malformations ,medicine ,Humans ,Abnormalities, Multiple ,Craniofacial ,Genetics (clinical) ,Tetralogy of Fallot ,Autosomal recessive inheritance ,business.industry ,Macrocephaly ,Infant ,Anatomy ,Syndrome ,Acrocallosal syndrome ,medicine.disease ,Viscera ,medicine.symptom ,Agenesis of Corpus Callosum ,business - Abstract
The acrocallosal syndrome (ACS) is a probable autosomal recessive condition of macrocephaly, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and mental retardation. This patient had characteristics of the ACS but also had a severe congenital heart defect and other visceral malformations. After comparing the ACS with and contrasting it to other disorders, we concluded that the internal organ abnormalities found in this patient probably represent further manifestations of the ACS.
- Published
- 1989
17. Effectiveness and Safety of A Nutraceutical Formulation for the Treatment of Functional Dyspepsia in Primary Care.
- Author
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Tursi A, Picchio M, Elisei W, Allegretta L, Benedicenti P, Bossa F, Di Bella S, Elefante A, Gallina S, Greco F, Maurichi F, Palieri AP, Penna A, Pranzo G, Rizzo GL, Brandimarte G, Abenavoli L, Alfieri MS, Antonino N, Autorino C, Bellomo P, Casamassima C, Colucci BP, De Cristofaro V, Demauro R, Derenzio P, Detommasi F, Fazio M, Ferrari V, Gallo A, Greco D, Lisco V, Lore F, Manfredi M, Marsano G, Mascoli P, Mazzilli L, Messa G, Minoretti G, Misciagna P, Monterisi F, Nappi S, Resta AR, Saponaro P, Sbarra G, Scutifero S, Selvaggio V, Sica G, Tarallo M, Torelli G, Vigilante C, and Zecchillo P
- Subjects
- Abdominal Pain, Dietary Supplements, Female, Humans, Male, Middle Aged, Primary Health Care, Retrospective Studies, Dyspepsia drug therapy
- Abstract
Background: Although FD may affect up to 10% of the general population, the therapy for FD is not standard. Recently, ginger-based food supplements have been proposed in order to restore FD symptoms. Our aim was to assess the efficacy of a new nutraceutical formulation containing extract of gingerol and thymus as a possible natural treatment in managing the symptoms of functional dyspepsia (FD)., Methods: We retrospectively analyzed the efficacy and safety profiles of a nutraceutical formulation containing Zingiber officinalis root extract and a standardized Thymus extract. It was administered as 1 ml/day twice a day for 90 days. Patients were assessed at baseline and after 1, 2 and 3 months of treatment, following a month of pharmacological washout by completing a questionnaire reporting the trend of the following symptoms: epigastric pain, epigastric heaviness, early satiety, belching, and regurgitation. Every symptom was assessed by a Visual Analogic Scale (VAS), ranging from 0= absence to 10= maximal severity., Results: We enrolled 272 patients (99 males and 173 females; median IQR age 49.5, 36-64 yrs). Obesity (BMI>30) was present in 28 (12.5%) patients; smokers were 83 (30.5%); and comorbidities were present in 107 (39.3%) patients. Improvement of symptom scores during treatment and one month after its suspension was extremely significant (p<0.000)., Conclusion: This large study found that nutraceutical formulation could be one of the tools for an empirical approach to treat patients with FD, especially when a non-conventional drug treatment is preferable for the patient and considered suitable by the physician., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)
- Published
- 2021
- Full Text
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18. [Important risk factors for venous thromboembolism. Analysis of 758 patients studied at a thrombosis center].
- Author
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Cellai AP, Marcucci R, Bialek W, Alessandrello Liotta A, Rogolino A, Gazzini A, Papi C, Casamassima C, Prisco D, and Abbate R
- Subjects
- Female, Humans, Male, Middle Aged, Risk Factors, Thromboembolism complications, Venous Thrombosis complications, Thromboembolism epidemiology, Venous Thrombosis epidemiology
- Published
- 1999
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