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PubMed2002

Malignancy in patients with inflammatory myopathy.

The most recent evidence from population-based cohort studies confirms the association between malignancy and dermatomyositis and polymyositis. These studies show an even stronger association between polymyositis and malignancy than previous studies, suggesting less misclassification. This is particularly true of one study that used pathologic criteria to distinguish between myositis subtypes. Recent data also confirm that the association for dermatomyositis and polymyositis is not purely caused by diagnostic suspicion or surveillance bias. More data are still required to determine individual cancer risks, although it appears that ovarian and lung cancer are associated with dermatomyositis while lung cancer and non-Hodgkin's lymphoma are associated with polymyositis. An association between malignant disease and inclusion body myositis has also been verified for the first time. Of interest, too, is the increasing number of reports documenting cases in which the clinical course of the myositis mirrors that of the cancer, supporting the notion that in some instances, myositis is a paraneoplastic disorder.

Case-Control Studies↗
PubMed1994

Abnormal regional CBF response in left hemisphere of dysphasic children during a language task.

This study used xenon 133 inhalation and single-photon computed tomography to measure regional cerebral blood flow during a quiet resting condition, a simple auditory task, and an auditory phonemic discrimination task in 3 age-matched groups of children suffering from developmental language disabilities: expressive dysphasia, expressive-receptive dysphasia, and attention-deficit hyperactivity disorder. An absence of left hemisphere activation was observed in the expressive-receptive group during the phonemic discrimination task as compared to both expressive and attention-deficit hyperactivity disorder children, together with an absence of left inferior parietal region activation in dysphasics as compared to hyperactive children. These results favor the hypothesis of an abnormal lateralization for language in dysphasic children and point toward possible different pathologic localizations in the different clinical subtypes of dysphasia.

Aphasia↗
PubMed2001

Involvement of astrocytes in purine-mediated reparative processes in the brain.

Astrocytes are involved in multiple brain functions in physiological conditions, participating in neuronal development, synaptic activity and homeostatic control of the extracellular environment. They also actively participate in the processes triggered by brain injuries, aimed at limiting and repairing brain damages. Purines may play a significant role in the pathophysiology of numerous acute and chronic disorders of the central nervous system (CNS). Astrocytes are the main source of cerebral purines. They release either adenine-based purines, e.g. adenosine and adenosine triphosphate, or guanine-based purines, e.g. guanosine and guanosine triphosphate, in physiological conditions and release even more of these purines in pathological conditions. Astrocytes express several receptor subtypes of P1 and P2 types for adenine-based purines. Receptors for guanine-based purines are being characterised. Specific ecto-enzymes such as nucleotidases, adenosine deaminase and, likely, purine nucleoside phosphorylase, metabolise both adenine- and guanine-based purines after release from astrocytes. This regulates the effects of nucleotides and nucleosides by reducing their interaction with specific membrane binding sites. Adenine-based nucleotides stimulate astrocyte proliferation by a P2-mediated increase in intracellular [Ca2+] and isoprenylated proteins. Adenosine also, via A2 receptors, may stimulate astrocyte proliferation, but mostly, via A1 and/or A3 receptors, inhibits astrocyte proliferation, thus controlling the excessive reactive astrogliosis triggered by P2 receptors. The activation of A1 receptors also stimulates astrocytes to produce trophic factors, such as nerve growth factor, S100beta protein and transforming growth factor beta, which contribute to protect neurons against injuries. Guanosine stimulates the output of adenine-based purines from astrocytes and in addition it directly triggers these cells to proliferate and to produce large amount of neuroprotective factors. These data indicate that adenine- and guanine-based purines released in large amounts from injured or dying cells of CNS may act as signals to initiate brain repair mechanisms widely involving astrocytes.

Adenine↗
PubMed1999

Spontaneous alopecia areata-like hair loss in one congenic and seven inbred laboratory mouse strains.

Alopecia areata (AA) research has been hampered by the lack of suitable animal models for use in experimental procedures. AA-like hair loss has been observed in several species, including dogs, cats, horses, cattle, and nonhuman primates; however, these examples are isolated cases in outbred species of large size, limiting their use in AA research. Inbred rodent strains are ideal research models. C3H/HeJ mice can develop spontaneous AA-like hair loss and have previously been advanced as a suitable experimental model. The search for additional mouse strains with AA-like hair loss has continued. Nonscarring, inflammatory, spontaneously reversible hair loss has been observed in individual mice from several inbred mouse strains. Aside from C3H/HeJ mice, an AA-like phenotype has been observed in the substrain C3H/HeJBir, with an expression frequency of 5%. Up to 10% of individuals in an A/J mouse colony have been confirmed to develop patchy AA-like hair loss. Isolated examples of AA have also been identified in C3H/HeN/J mice, C3H/OuJ mice, HRS/J+/hr heterozygous normal mice, CBA/CaHN-Btk(xid)/J mice, and BALB.2R-H2h2/Lil mice, each with a colony frequency of less than 1%. BALB.2R-H2h2/Lil mice may also have severe nail defects. AA is regarded as rare in nonhuman species; however, nonscarring inflammatory based alopecia has been identified in several mouse strains. These examples may represent different subtypes of the heterogeneous AA phenotype. Pathologic and genetic analysis of different AA affected mouse strains may contribute to understanding AA pathogenesis and elucidating susceptibility genes.

Alopecia Areata↗
PubMed2001

Muscle dysmorphia: a South African sample.

It has recently been suggested that muscle dysmorphia, a pathological preoccupation with muscularity, is a subtype of body dysmorphic disorder (BDD). There are, however, few studies of the phenomenology of this putative entity. Twenty-eight amateur competitive body builders in the Western Cape, South Africa, were studied using a structured diagnostic interview that incorporated demographic data, body-building activities and clinical questions focusing on muscle dysmorphia and BDD. There was a high rate of muscle dysmorphia in the sample (53.6%). Those with muscle dysmorphia were significantly more likely to have comorbid BDD based on preoccupations other than muscularity (33%). Use of the proposed diagnostic criteria for muscle dysmorphia indicated that this is a common and relevant entity. Its conceptualization as a subtype of BDD seems valid. The disorder deserves additional attention from both clinicians and researchers.

Adolescent↗
PubMedDate not supplied

Differential diagnosis, prognostic factors, and clinical treatment of proliferative Brenner tumor of the ovary.

Brenner tumors are rare ovarian tumors displaying benign, borderline or proliferative, and malignant variants. The case of a 63-year-old woman with a proliferative Brenner tumor is presented and the histomorphological differential diagnosis of this tumor entity is compared to that of its benign and malignant counterparts. Light microscopy, immunohistochemistry, and electron microscopy were performed to allow discrimination from the other subtypes. Despite a considerable overlap of pathological features the differential diagnosis of proliferative Brenner tumor could be established. Electron microscopy allowed assessment of characteristic infoldings of the nuclear membrane that proved to be a valuable ultrastructural criterion. Considering that the vast majority of Brenner tumors are benign, precise identification of the small proportion of malignant tumors allows the extent of surgical therapy to be adapted.

Biomarkers, Tumor↗
PubMedDate not supplied

Hyperacute perimesencephalic subarachnoid hemorrhage: demonstration of blood extravasation with MRI.

Perimesencephalic subarachnoid hemorrhage (SAH) is a benign subtype of SAH without known vascular pathology. We report a case of current subarachnoid bleeding in the vicinity of the basilar artery. The patient was on anticoagulation medication and had sustained a head injury 2 days earlier. The bleeding was documented by contrast agent extravasation in MRI. Because of the isointensity of hyperacute blood to CSF in conventional T2 sequences, FLAIR images are mandatory for diagnosis in the hyperacute state.

Acute Disease↗
PubMed2004

Partial nephrectomy for patients with a solitary kidney: the Memorial Sloan-Kettering experience.

OBJECTIVE: To report the experience of partial nephrectomy in patients with a solitary kidney at one institution, with analysis of renal function, complications, oncological efficacy and survival. PATIENTS AND METHODS: We identified 54 consecutive patients with a solitary kidney who had a partial nephrectomy between December 1989 and July 2003. Variables examined included patient age and gender, renal function, renal ischaemia time, surgical margin status and complications. Pathological features, e.g. tumour size, histological subtype and tumour stage, were also assessed. Disease-free probability and overall and cancer-specific survivals were determined. RESULTS: The histological subtype was clear cell in 35 cases (65%), papillary in 10 (19%), oncocytoma in four (7%), chromophobe in two (4%), unclassified in one (2%) and multiple subtypes in two (2%). The median creatinine level before surgery was 14 mg/L, which increased to 16 mg/L 6 months afterward, and at 1 and 2 years after surgery it was 15 mg/L. Two patients developed end-stage renal disease requiring haemodialysis, one soon after surgery and another 8 years after nephron-sparing surgery. In all, 26% of patients developed at least one perioperative complication, with acute renal failure and urinary fistula being the most common. At 5 years the overall and cancer-specific survival, and disease-free probability were 68%, 88% and 73%, respectively. CONCLUSIONS: Partial nephrectomy is safe in patients with a solitary kidney, with an acceptable decline in renal function and low likelihood of requiring temporary or permanent haemodialysis. After an initial decline, renal function appears to stabilize during the first year.

Adult↗
PubMedDate not supplied

Subclinical ductal carcinoma in situ of the breast: treatment with conservative surgery and radiotherapy.

AIMS AND BACKGROUND: In spite of the fact that ductal carcinoma in situ (DCIS) of the breast is a frequently encountered clinical problem, there is no consensus about the optimal treatment of clinically occult (i.e., mammographic presentation only) DCIS. Interest in breast conservation therapy has recently increased. Few data are available in Italy on the conservative treatment with surgery and adjuvant postoperative radiotherapy. METHODS: A retrospective multi-institutional study was performed in 15 Radiation Oncology Departments in northern Italy involving 112 women with subclinical DCIS of the breast treated between 1982 and 1993. Age of the patients ranged between 32 and 72 years (median, 50 years). All of them underwent conservative surgery: quadrantectomy in 89, tumorectomy in 11, and wide excision in 12 cases. The most common histologic subtype was comedocarcinoma (37%). The median pathologic size was 10 mm (range 1 to 55 mm). Axillary dissection was performed in 83 cases: all the patients were node negative. All the patients received adjunctive radiation therapy with 60Co units (77%) or 6 MV linear accelerators (23%) for a median total dose to the entire breast of 50 Gy (mean, 49.48 Gy; range, 45-60 Gy). Seventy-six cases (68%) received a boost to the tumor bed at a dose of 8-20 Gy (median 10 Gy) for a minimum tumor dose of 58 Gy. RESULTS: At a median follow-up of 66 months, 8 local recurrences were observed, 4 intraductal and 4 invasive. All recurrent patients had a salvage mastectomy and are alive and free of disease at this writing. The 10-year actuarial overall, cause-specific, and recurrence-free survival was of 98.8%, 100%, and 91%, respectively. CONCLUSIONS: The retrospective multicentric study, with a local control rate of more than 90% at 10 years with 100% cause-specific survival, showed that conservative surgery and adjuvant radiation therapy is a safe and efficacious treatment for patients with occult, non-palpable DCIS.

Adult↗
PubMedDate not supplied

Towards neurotransplantation in multiple system atrophy: clinical rationale, pathophysiological basis, and preliminary experimental evidence.

Multiple system atrophy (MSA) is a neurodegenerative disorder that occurs sporadically and causes parkinsonism, cerebellar, autonomic, urinary, and pyramidal dysfunction in many combinations. Progressive L-dopa-unresponsive parkinsonism due to underlying striatonigral degeneration dominates the clinical syndrome in the majority of cases (MSA-P subtype). MSA-P is characterized pathologically by degenerative changes in somatotopically related areas of the substantia nigra pars compacta and of the putamen. Furthermore, oligodendroglial cytoplasmic inclusions (GCIs) are observed throughout the cortico-striato-pallidocortical loops and may contribute to the basal ganglia dysfunction. Neurotransplantation strategies are of potential interest in this disease, which causes marked and early disability and dramatically reduces life expectancy. A number of experimental MSA-P models have been employed to evaluate neurotransplantation approaches. Sequential nigral and striatal lesions using 6-hydroxydopamine and quinolinic acid (double toxin-double lesion approach) indicate that apomorphine-induced contralateral rotation is abolished by a secondary striatal lesion. Intrastriatal injection of mitochondrial respiratory chain toxins produces secondary excitotoxic striatal lesions combined with retrograde nigral degeneration and therefore provides an alternative single toxin-double lesion approach. Neurotransplantation in MSA-P animal models has been used to improve functional deficits by replacing lost nigral and/or striatal circuitry (neuroregenerative approach). The available data indicate that embryonic mesencephalic grafts alone or combined with striatal grafts partially reverse drug-induced rotation asymmetries without improving deficits of complex motor function. The potential neuroprotective efficacy of embryonic striatal grafts against striatal excitotoxicity is presently under investigation in the double toxin-double lesion MSA-P rat model. Anecdotal clinical evidence in one MSA-P patient misdiagnosed as Parkinson's disease indicates that embryonic mesencephalic grafts produce incomplete clinical benefit. Striatal co-grafts may increase functional improvement. Further experimental studies are required prior to the clinical application of embryonic neurotransplantation in MSA-P. Future research strategies should explore the effect of neurotransplantation in partial MSA-P rat models with less severe nigral and striatal degeneration, the feasibility of a primate model closely mimicking the human disease, and the replication of oligodendroglial dysfunction.

Animals↗
PubMed2006

Alpha-conotoxin analogs with enhanced affinity for nicotinic receptors and acetylcholine-binding proteins.

Alpha-conotoxins, neurotoxic peptides from poisonous Conus marine snails, can be subdivided into several groups targeting distinct subtypes of nicotinic acetylcholine receptors (nAChRs). Such alpha-conotoxins as, for example, GI, MI, or SIA potently block muscle-type nAChRs from muscles and from the electric organ of Torpedo ray, whereas others target distinct neuronal nAChRs: alpha-conotoxins ImI and PnIB block pentaoligomeric alpha7 nAChRs, and alpha-conotoxins MII or PnIA inhibit heteromeric nAChRs made of combinations of alpha3 or alpha6 subunits with beta2 subunit. alpha-Conotoxins interact with N-terminal extracellular ligand-binding domains of nAChRs and are indispensable tools for distinguishing various subtypes of AChRs at normal and pathological states. Although many alpha-conotoxins have been isolated from Conus venoms, there is still a great need in more potent and selective tools, which in principle can be obtained by design and synthesis of novel alpha-conotoxin analogs.

Acetylcholine↗
PubMedDate not supplied

Pituitary hyperplasia.

Pituitary hyperplasia is rare, difficult to diagnose and sometimes controversial. The hyperplasia could be physiologic which is usually reversible, or pathologic which varies in presentation from incidental to tumor like lesion with and without hormonal disturbance. Any pituitary cell is capable of undergoing hyperplasia in the presence of the right stimuli. In this article we summarize the various pathologic and morphologic features of each subtype of pituitary hyperplasia, give an account of the molecular, hormonal and cellular basis of this condition and outline its clinical significance, differential diagnosis and prognosis.

Journal Article↗
PubMed1999

[Renal cell carcinoma recurrence in the mediastinum lymph node 19 years after nephrectomy: a case report].

A 62-year-old male, who had undergone right nephrectomy to treat renal cancer 19 years earlier, was recently referred to our hospital to receive a detailed examination and treatment of mediastinal lymph node swelling. Biopsy of the swollen lymph nodes allowed a diagnosis of renal cell carcinoma (alveolar type, clear cell subtype, GI) to be made. The pathological features of his tumor were consistent with those of the renal tumor resected 19 years previously. Because there was a high probability of further growth of the swollen mediastinal lymph nodes and consequent high probability of compression of the superior vena cava, we performed mediastinal lymph node excision. Immediately after surgery, prophylactic interferon therapy was started. To date, five cases (including the present case) in which renal tumors recurred more than 15 years after surgical treatment have been reported in Japan.

Carcinoma, Renal Cell↗
PubMed2002

A rare synovial sarcoma of the kidney exhibiting translocation (X;18) and SYT-SSX2 fusion gene.

Malignant spindle cell neoplasms are often a diagnostic challenge in histopathology, especially those arising from unusual locations. The authors report a primary synovial sarcoma of the kidney in a 19-year-old female. Initially, the tumor was considered adult Wilms' tumor exhibiting predominantly blastemal component. It was then revised to monophasic synovial sarcoma due to discovery of the characteristic chromosomal translocation (X;18)(p11.2;q11.2). This is the tenth reported case of renal synovial sarcoma with genetic confirmation. In addition to emphasizing the usefulness of genetic study in diagnostic pathology, the clinical implication of SYT/SSX subtypes and other additional chromosomal changes were also discussed by reviewing literature.

Adult↗
PubMed2003

[Molecular mechanisms of hereditary neuropathy: genotype-phenotype correlation].

Hereditary neuropathies are classified into several subtypes according to clinical, electrophysiologic and pathologic findings. Recent genetic studies have revealed their phenotypic and genetic diversities. In the primary peripheral demyelinating neuropathies(CMT1), at least 9 genes have been associated with the disorders; altered dosage of peripheral myelin protein 22(PMP22) or point mutation of PMP22, the gap junction protein 1(GJB1), the myelin protein zero gene(MPZ), the early growth response gene 2(EGR2), the myotubularin-related protein 2 gene(MTMR2), the N-myc downstream-regulated gene 1 (NDRG1), the L-periaxin gene(PRX), SRY-related HMG-BOX gene 10(SOX10) and the ganglioside-induced differentiation-associated protein 1 gene(GDAP1). In the primary peripheral axonal neuropathies(CMT2), at least 8 genes have been associated with these disorders; the neurofilament light chain gene(NEFL), the kinesin 1B gene(KIF1B), the gigaxonin gene(GAN1), Lamin A/C(LMNA) and tyrosyl-DNA phosphodiesterase 1(TDP1). In addition, some mutations in GJB1, MPZ and GDAP1 also present with clinical and electrophysiologic findings of CMT2. Mutation of NEFL or KIF1B cause dominantly inherited axonal neuropathies, whereas mutation of GJB1 or MPZ can present as genocopies of dominant axonal neuropathies. In addition to the above diseases, we have reported a new type of NMSNP(MIM # *604484) characterized by proximal dominant neurogenic atrophy, obvious sensory nerve involvement and the gene locus on 3q13. Here, we summarize the genetic bases of hereditary neuropathies and attempt to highlight significant genotype-phenotype correlations.

Axons↗
PubMed2004

[Update on hereditary neuropathy].

Hereditary neuropathies are classified into several subtypes according to clinical, electrophysiologic and pathologic findings. Recent genetic studies have revealed their phenotypic and genetic diversities. In the primary peripheral demyelinating neuropathies (CMT1), at least 15 genes have been associated with the disorders; altered dosage or point mutation of PMP22, GJB1, MPZ, EGR2, MTMR2, NDRG1, PRX, SOX10, GDAP1 and MTMR13/SBF2. In the primary peripheral axonal neuropathies (CMT2), at least 10 genes have been associated with these disorders; NEFL, KIF1B, MFN2, GAN1, LMNA, RAB7, GARS, TDP1, APTX, and SETX. In addition, some mutations in GJB1, MPZ, GDAP1 and NEFL also present with clinical and electrophysiologic findings of CMT2. Patients with TDP1, APTX or SETX mutations share common clinical findings; autosomal recessive inheritance, cerebellar ataxia, and axonal neuropathy. These genes are suspected to be related to DNA/RNA repair and induce cell death especially in neuronal cells. In addition to the above diseases, we have reported a new type of NMSNP (MIM# * 604484) characterized by proximal dominant neurogenic atrophy, obvious sensory nerve involvement and the gene locus on 3q12.3. Here, we summarize the genetic bases of hereditary neuropathies and attempt to highlight significant genotype-phenotype correlations with a special interest in nonsense-mediated mRNA decay pathway.

Demyelinating Diseases↗
PubMed2004

Lymph node metastasis in breast carcinoma: clinicopathological correlations in 3747 patients.

BACKGROUND: Histological axillary node involvement (ANI) evaluated by axillary dissection remains the most accurate predictive factor for patients with invasive breast cancer. Axillary node involvement implies the necessity of systemic adjuvant treatment and locoregional irradiation. AIM OF THE STUDY: Is to detect the relative frequency of node positivity in relation to histopathology through studying a large mastectomy series. MATERIAL AND METHODS: This study included 3747 mastectomy specimens performed at NCI, Cairo in the period 1993-2003. In each case we assessed the age at time of diagnosis, pathologic tumor size and number, histologic subtype (including grade), tumor location, number of lymph nodes dissected and number of positive nodes (burden of node positivity). RESULTS: Females constituted 96.8% of cases, 60.7% of them were premenopausal. The mean age was 47.1% +/- 10.5 years. Tumor size ranged from 0.5 to 20 cm. The global ANI rate in the entire cohort was 70.6%. In univariate analysis, five variables were significantly correlated to ANI, these were laterality, multiplicity, tumor size, histologic subtype and grade, while multiplicity, tumor size, histologic subtype and grade correlated significantly with metastatic burden. Multivariate analysis showed that older women (40-60 and > 60 years) have at least half the risk of developing LN metastasis compared to those < 40 years with the odds of 0.51 (0.35-0.73) and 0.31 (0.18-0.55), respectively. Tumor size > 2 cm put the women with breast cancer at 3 (if 2-5 cm) to 9 (if > 5 cm)folds of developing lymph node (LN) metastasis. Tumor size > 5 cm increases the likelihood of higher metastatic burden (> 3 +ve nodes) with odds of 1.5 (1.24-1.9). Unfavourable histology also increases the likelihood of more positive nodes to the double when compared to favourable histology. CONCLUSIONS: The results of this study reflected the unfortunate presentation of breast cancer patients. In addition, some factors could be used as useful guidelines in the management of those patients. These factors include age, tumor size and histologic type of the tumor.

Journal Article↗