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At least 595 records · Page 33Linked to original sources
PubMed2003

Lurcher mice exhibit potentiation of GABA(A)-receptor-mediated conductance in cerebellar nuclei neurons in close temporal relationship to Purkinje cell death.

In heterozygous Lurcher mice (Lc/+), the Purkinje cells (PCs) degenerate almost totally during postnatal development. On the other hand, their projection target, the deep cerebellar nuclei (DCN), shows few signs of degeneration and seems to play an important role in maintaining a residual cerebellar function in Lc/+. We asked whether the DCN in Lc/+ develop cellular adaptations allowing them to cope with the loss of GABAergic PC input. Using whole-cell patch-clamp recordings, we measured inhibitory postsynaptic currents from DCN of Lc/+ and wild-type mice (WT). In experiments on phenotypically striking Lc/+ studied well after the onset of the PC degeneration, we found enlarged average synaptic conductances (g(syn)) compared with WT. We next investigated postnatal mice before and after the onset of PC death. In younger animals </= postnatal day (p) 13, no difference was found in g(syn) between the two groups. At p14, g(syn) in Lc/+ showed an increase, while those in WT stayed on the level found in younger animals. A peak-scaled nonstationary fluctuation analysis suggests that an increase in the average number of channels open at peak is the basis for the change in g(syn). The changes in g(syn), suitable to increase the efficacy of GABAergic transmission, occur in close temporal relationship to PC death and, thus, may reflect a functional adaptation to the loss of the DCN's main GABAergic afferents.

Animals↗
PubMed1993

Phenotypically diverse mouse thymic stromal cell lines which induce proliferation and differentiation of hematopoietic cells.

The heterogeneity of the thymic stroma has made careful characterization of particular thymic stromal cell types difficult. To this end, we have derived a panel of cloned thymic stromal cell lines from simian virus 40 T antigen (SV40-T antigen) transgenic mice. Based on their analysis with monoclonal antibodies that distinguish among subsets of thymic stroma cells, and on the morphology and ultrastructural features of the different clones, we suggest that our panel includes representatives of the thymic subcapsular cortex or thymic nurse cells (427.1), the deep cortex or cortical reticular cells (1308.1) and the medulla including medullary interdigitating (IDC)-like cells (6.1.1) and medullary epithelial cells (6.1.7). A fifth cell type of undesignated but apparent medullary origin (6.1.11) was also isolated. All of the cell lines constitutively express the SV40 T antigen transgene and the class I antigens of the major histocompatibility complex (MHC), and they can be induced to express MHC class II antigens upon stimulation with recombinant interferon-gamma (IFN-gamma). These cell lines elaborate a factor(s) that induces the proliferation of cells from the fetal liver and bone marrow, but not from the neonatal thymus. A factor(s) elaborated by the 1308.1 cell line also induces the proliferation of fetal thymocytes in the absence of mitogens, phorbol esters or calcium ionophore which is augmented with the addition of recombinant interleukin-2 (IL-2). Analysis by reverse transcription polymerase chain reaction with primers for some mouse cytokines reveals that each of these cell lines contain granulocyte-macrophage colony-stimulating factor (GM-CSF) transcripts and that 1308.1, 6.1.1 and 6.1.7 produce IL-6 mRNA. Cell lines 1308.1 and 6.1.1 also produce IL-7; 6.1.1 produces IL-1 beta and tumor necrosis factor (TNF)-alpha while the 427.1 cell line produces IL-5 and IFN-gamma mRNA. None of the cell lines tested express the IL-2 receptor, IL-2, IL-3, IL-4, TNF-beta or macrophage inflammatory proteins mRNA. Conditioned medium (CM) from 1308.1 and 6.1.11 induced differentiation of cells purified from the mouse fetal liver into granulocytes; 1308.1 CM also induced differentiation of the mouse hematopoietic stem cell line 32DCl3(G) suggesting that the CM contains granulocyte (G)-CSF activity. Each cell line produces GM-CSF but the greatest activity is associated with 1308.1 and 6.1.11 CM. The availability of these well-characterized, functional, cloned thymic stromal cells will allow a more detailed analysis of the role of each cell type in both myeloid and T cell development.

Animals↗
PubMed1998

Rostral cerebellar malformation (rcm/rcm): a murine mutant to study regionalization of the cerebellum.

A recently described recessive mouse mutant, rostral cerebellar malformation (rcm/rcm), demonstrates a swaying gait at approximately 12 days of age (Lane et al. [1992] J. Hered. 83:315-318). The mutant cerebellar (Cb) phenotype consists of cerebellar tissue that extends rostrally, beyond the usual distinct anterior cerebellar boundary, into the midbrain (Lane et al. [1992] J. Hered. 83:315-318; Ackerman et al. [1997] Nature 386:838-842). Interestingly, the cerebellar ectopia occurs in the absence of any significant alterations in the distribution of nuclear groups within the brainstem. The ectopic Cb tissue is 1) adherent to the posterior and lateral aspects of the inferior colliculus and to the lateral aspect of the rostral brainstem and 2) contains acellular regions within the inner granular layer (igl) and ectopic, calbindin-immunoreactive Purkinje cells (PCs) deep to the igl. Within the Cb proper, PC organization, as revealed by zebrin II immunoreactivity, is generally normal. In the ectopic Cb tissue PCs also exhibit a banded zebrin distribution. Analysis of the spinocerebellar projection in the mutant suggests a lobular distribution similar to that seen in the normal mouse. Within the anterior region, however, the normal parasagittal banding pattern is somewhat obscured. Spinocerebellar innervation of the ectopic Cb tissue exists, but it is almost exclusively to the region adjacent to the caudal inferior colliculus. In conjunction with the recent finding that the mutation appears to affect a UNC-5-like receptor protein for netrin-1, a molecule that may be involved in axonal guidance and cell migration (Ackerman et al. [1997] Nature 386:838-842), our results suggest that this mutant is an important model for the analysis of cerebellar development and regionalization.

Animals↗
PubMed1999

Fibrocartilage in the extensor tendons of the human metacarpophalangeal joints.

The extensor tendons of the fingers cross both the metacarpophalangeal (MCP) and interphalangeal joints. Previous studies have shown that where the extensor tendons replace the capsule of the proximal interphalangeal (PIP) joint, they contain a sesamoid fibrocartilage that articulates with the proximal phalanx during flexion. The fibrocartilage labels immunohistochemically for a variety of glycosaminoglycans and collagens. In the current study, we investigate the molecular composition of the extensor tendons at the level of the MCP joints. This is of particular interest because the tendon has a greater moment arm at this location (and might thus be subject to greater compression), but is separated from the joint cavity by the capsule and peritendinous tissue. Six hands were removed from elderly cadavers (39-85 years of age) and the MCP joints were fixed in 90% methanol. The extensor tendons were dissected from all fingers, cryosectioned, and immunolabelled with a panel of monoclonal and polyclonal antibodies for types I, II, III, and VI collagens, chondroitin 4 and 6 sulphates, dermatan, and keratan sulphate and aggrecan. Antibody binding was detected with the Vectastain ABC 'Elite' avidin/biotin/peroxidase kit. The extensor tendons in all the fingers had a metachromatic sesamoid fibrocartilage on their deep surface which immunolabelled for types I, III, and VI collagens, and for all glycosaminoglycans and aggrecan. Labelling for type II collagen was also seen in some fibrocartilages and was a constant feature of all index fingers. This probably relates to the greater use of that digit and the higher loads to which its tendons are subject. Chondroitin 6 sulphate and type II collagen are the most consistent markers of the fibrocartilage phenotype and most of the chondroitin 6 sulphate is probably associated with aggrecan. It is concluded that the labelling profile of the tendon fibrocartilage in the different fingers at the MCP joints is broadly similar to that at the PIP joints. Thus, the potentially greater level of compression on the extensor tendons may be counterbalanced by the lack of fusion of the tendon with the joint capsule. It is suggested that the maintenance of a similar level of fibrocartilage differentiation at two different points along the length of the extensor tendon ensures that the tensile strength is the same in the two regions and that no weak link is present.

Adult↗
PubMed1984

Substance P and catecholaminergic expression in neurons of the hamster main olfactory bulb.

A coordinated series of immunohistochemical and biochemical analyses have been conducted in the hamster to examine the dependence of substance P and tyrosine hydroxylase (TH) expression by second-order olfactory neurons, and the level of dopamine in the main olfactory bulb (MOB), on the integrity of carnosine- and olfactory marker protein (OMP)-containing primary afferent neurons. Substance P-like immunoreactivity (SPLI) is localized in external tufted cells and centrifugal afferents of the MOB; TH immunoreactivity has a wider distribution, in external tufted, middle tufted, periglomerular, and deep short-axon cells as well as in centrifugal afferents. To characterize the SPLI, this material was isolated by guanidine-HCl extraction and passage over a C18 SEP-PAK. The SPLI coelutes on HPLC with authentic substance P and, following oxidation, coelutes with substance P sulfoxide. It is sensitive to alpha-chymotrypsin and is resistant to trypsin. Thus, the SPLI in the MOB behaves as authentic substance P. Intranasal irrigation with 0.17 M ZnSO4 results in peripheral deafferentiation of the MOB for up to 8 months as evidenced by a persistent loss of OMP immunoreactivity and shrinkage of the olfactory nerve layer and glomeruli. By these criteria, the vomeronasal inputs to the accessory olfactory bulb are not destroyed and the spared vomeronasal receptor neurons do not innervate the vacated peripheral projection field in the MOB. The loss of peripheral inputs to the MOB is accompanied by marked and parallel reductions in the incidences of SPLI- and TH-positive second-order neurons despite an increase in the density of neuronal somata in the glomerular layer. Biochemical quantifications following peripheral deafferentation also demonstrate significant decreases of both substance P and dopamine, together with the expected decrease of carnosine. In contrast, the SPLI and the TH and serotoninlike immunoreactivities in centrifugal afferents as well as the TH immunoreactivity in deep interneurons do not appear to be reduced, and the MOB content of norepinephrine in centrifugal afferents is unaffected. These results collectively indicate that the loss of inputs from the primary olfactory receptor neurons can reduce the levels of at least two different, putatively neuroactive compounds (substance P and dopamine) in at least three classes of second-order neurons (external tufted, middle tufted, and periglomerular cells). The control of central neuron phenotype by the peripheral olfactory neurons thus appears to be a phenomenon of broad influence. It may play a role in processing chemosensory information as well as offering a system in which to study neuronal plasticit

Animals↗
PubMed2000

Confocal analysis of cytoskeletal organisation within isolated chondrocyte sub-populations cultured in agarose.

This study reports the cytoskeletal organisation within chondrocytes, isolated from the superficial and deep zones of articular cartilage and seeded into agarose constructs. At day 0, marked organisation of actin microfilaments was not observed in cells from both zones. Partial or clearly organised microtubules and vimentin intermediate filaments cytoskeletal components were present, however, in a proportion of cells. Staining for microtubules and vimentin intermediate filaments was less marked after 1 day in culture however than on initial seeding. For all three cytoskeletal components there was a dramatic increase in organisation between days 3 and 14 and, in general, organisation was greater within deep zone cells. Clear organisation for actin microfilaments was characterised by a cortical network and punctate staining around the periphery of the cell, while microtubules and vimentin intermediate filaments formed an extensive fibrous network. Cytoskeletal organisation within chondrocytes in agarose appears, therefore, to be broadly similar to that described in situ. Variations in the organisation of actin microfilaments between chondrocytes cultured in agarose and in monolayer are consistent with a role in phenotypic modulation. Vimentin intermediate filaments and microtubules form a link between the plasma membrane and the nucleus and may play a role in the mechanotransduction process.

Actin Cytoskeleton↗
PubMedDate not supplied

Extraskeletal myxoid chondrosarcoma with neuroendocrine differentiation: a case report with fine-needle aspiration biopsy, histopathology, electron microscopy, and cytogenetics.

Although extraskeletal myxoid chondrosarcoma (EMC) is a rare soft tissue sarcoma, its morphological, ultrastructural, and cytogenetical features have been well investigated. The authors describe a very rare variant of EMC with neuroendocrine differentiation. A 49-year-old woman presented with an 11-cm, deep-seated, lobulated soft tissue mass in the left thigh and a lymph node metastasis in the left groin. Analysis of fine-needle aspiration biopsy (FNAB) smears and a cellblock prepared from FNAB material, as well as histological sections of the excised tumor, showed a neoplasm composed of rounded and elongated cells arranged in strands and cords in a myxoid background matrix. The nuclei were rounded and often eccentric. The immunohistochemical phenotype was S-100 protein -, neuron specific enolase +, and chromogranin A+. Electron microscopy showed tumor cells harboring numerous mitochondria, partial basal lamina, and unequivocal neuroendocrine granules. Molecular genetic analysis revealed a TAF15/NR4A3 fusion, a characteristic rearrangement occurring in about 25% of cytogenetically investigated EMC. A few cases of EMC with neuroendocrine differentiation have been reported. However, the only previously described case with genetic information also displayed the t(9;17) instead of the more common t(9;22), suggesting an association between type of primary chromosome abnormality and neuroendocrine differentiation.

Biomarkers, Tumor↗
PubMed1992

Candida strains from neonates in a special care baby unit.

Carriage and acquisition of Candida spp and Candida albicans biotypes were studied among 163 neonates and 90 staff in a neonatal intensive care and surgical unit during a 17 week period. Twenty one neonates carried yeasts in the mouth, rectum or groin when first sampled, and a further 25 were positive later. C albicans accounted for 94.7% of 431 yeast isolates from neonates but only 67.4% of 43 isolates from staff. The first isolated C albicans biotype persisted in 13 babies monitored longitudinally. Simultaneous colonisation with two Candida spp was found in 2/46 neonates and 5/33 staff. The prevalence of candida was significantly higher among babies of gestational age less than 28 weeks (65%) than those of higher gestational age (26%). Oral and/or crural candida infection was observed in 14 of the babies but none developed deep seated candidosis. Routine antifungal prophylaxis did not affect the frequency of yeasts among the neonates.

Adult↗
PubMed1989

Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.

We have studied 7 males in one family with mild/moderate intellectual handicap, long thick ears, deep-set eyes, small testes, and post pubertal gynecomastia. The affected males and some of the heterozygous females also had tapering fingers and short, widely spaced flexed toes. The pedigree demonstrates X-linked recessive inheritance. The clinical manifestations are similar to those described in the Börjeson-Forssman-Lehmann (BFL) syndrome but differ in the degree of mental handicap and the absence of "dwarfism" and microcepaly. This milder manifestation may represent either phenotypic or genotypic variation. DNA marker studies demonstrated linkage to the DXS86, DXS51, and F9 cluster at Xq26-q27. The maximum lod score was 2.1 with DXS51, at theta = 0.0. Definite recombinants were observed between DXS10 (at Xq26 but proximal to DXS86), DXS105 (at Xq27 but distal to F9), and BFL. Thus, the regional localization for BFL is Xq26-q27 between DXS10 and DXS105.

Abnormalities, Multiple↗
PubMed2001

Characteristics of breathing abnormality in Leigh and its overlap syndromes.

In this report we describe the respiratory patterns of six patients with Leigh syndrome, including two individual cases with accompanying clinical phenotypes of Alpers disease and mitochondrial encephalopathy with ragged red fibers. In five cases where sleep apnea was monitored, each one showed isolated or post-sigh central apnea, hiccup, apneusis-like breathing and obstructive apnea in various combinations. The remaining patient with Alpers/Leigh overlap syndrome showed an apneusis-like pattern of dyspnea. The sleep structure was examined in three patients. Two patients with brainstem lesions showed a decrease in the deep sleep stages and an absence of REM sleep. Medullary lesions were found in four patients by magnetic resonance imaging or at autopsy and involved predominantly the dorsal respiratory group (DRG) of medullary neurons. The role of DRG lesions in the pathophysiology of respiratory symptoms in Leigh syndrome is discussed.

Brain↗
PubMed2004

Kangiella koreensis gen. nov., sp. nov. and Kangiella aquimarina sp. nov., isolated from a tidal flat of the Yellow Sea in Korea.

Two Gram-negative, non-motile, non-spore-forming, rod-shaped organisms, strains SW-125T and SW-154T, were isolated from tidal flat sediment of the Yellow Sea in Korea, and subjected to a polyphasic taxonomic study. Strains SW-125T and SW-154T grew optimally at 30-37 degrees C and in the presence of 2-3 % (w/v) NaCl. They contained ubiquinone-8 (Q-8) as the predominant respiratory lipoquinone and iso-C(15 : 0) as the major fatty acid. The DNA G + C contents of strains SW-125T and SW-154T were 44 mol%. Phylogenetic trees based on 16S rRNA gene sequences revealed that the two strains form deep evolutionary lineages of descent within the gamma-Proteobacteria. Strains SW-125T and SW-154T exhibited 16S rRNA gene sequence similarity levels of less than 90 % to members of the gamma-Proteobacteria used in this analysis. Strains SW-125T and SW-154T showed a 16S rRNA gene sequence similarity level of 98.5 % and a mean DNA-DNA relatedness level of 9.4 %. Therefore, on the basis of phenotypic, phylogenetic and genomic data, a new genus, Kangiella gen. nov., is proposed to accommodate the novel strains, comprising two novel species, Kangiella koreensis sp. nov. (type strain, SW-125T = KCTC 12182T = DSM 16069T) and Kangiella aquimarina sp. nov. (type strain, SW-154T = KCTC 12183T = DSM 16071T).

Bacterial Typing Techniques↗
PubMed1999

Role of PI3-kinase in the development of interstitial cells and pacemaking in murine gastrointestinal smooth muscle.

1. Development of the pacemaker system in the small intestine depends upon signalling via tyrosine kinase (Kit) receptors. The downstream pathways initiated by Kit in interstitial cells of Cajal (ICC) have not been investigated. Wortmannin and 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one (LY 294002), inhibitors of phosphatidylinositol 3'-kinase (PI3-kinase), were used to test the involvement of this pathway in the development and maintenance of ICC and electrical rhythmicity in the murine small intestine. 2. ICC and electrical slow waves were present in the murine jejunum at birth. ICC and electrical rhythmicity continued to develop in neonates such that adult activity was recorded after 1 week. Development of ICC and rhythmicity were maintained in organ culture. 3. Wortmannin or LY 294002 inhibited the development of slow waves and blocked rhythmicity within 2-4 days. Loss of slow waves was preceded by disappearance of Kit-positive cells from the myenteric (IC-MY) and deep muscular plexus (IC-DMP) regions. Wortmannin or LY 294002 had no acute effect on slow waves. 4. Muscles from older animals (day 10-day 30) developed resistance to wortmannin treatment, but when the exposure to wortmannin was increased to 35 days, damage to ICC networks and electrical dysrhythmias were observed. 5. PI3-kinase appears to be a critical downstream signalling element linking Kit receptors to ICC development and maintenance of phenotype. ICC are more sensitive to Kit or PI3-kinase blockade at birth, but the importance of the PI3-kinase signalling in the maintenance of ICC persists into adulthood. Interference with PI3-kinase signalling in immature or adult animals could result in disruption of ICC and gastrointestinal dysrhythmias.

Aging↗
PubMedDate not supplied

Granulomatous slack skin in childhood.

Granulomatous slack skin is an uncommon cutaneous T-helper cell lymphoma closely related to mycosis fungoides. To the best of our knowledge this disease has not been previously described in children. We report on an 11-year-old boy who presented with painless slack skin masses in the neck, right axilla and arm, anterior wall of the abdomen, both inguinal regions, and the malleolar and dorsal aspects of the feet. The disease started 3 years earlier with erythematous lesions on the neck and wrists. Histologic examination of a specimen from the abdominal mass revealed an extensive lymphoid infiltrate with scattered multinucleated giant cells extending from the papillary dermis to the subcutis. The lymphoid cells showed the following immunophenotype: CD43+ (MT1), CD45+, CD45RO+, CD20-. The phenotype of the giant cells was lysozyme positive, CD68+ and Mac387-. The tumoral lymphoid cells had clonal rearrangement for the gene of the beta chain of the T-cell receptor (C beta TCR). The disease could be controlled with systemic glucocorticoids. Due to the presence of many histiocytes arranged in aggregates in the papillary and mid-dermis, this case was initially considered to be a cutaneous form of histiocytosis. We recommend deep and extensive biopsies in patients with slack skin disease.

Child↗
PubMed2004

Homozygous deficiency of heparin cofactor II: relevance of P17 glutamate residue in serpins, relationship with conformational diseases, and role in thrombosis.

BACKGROUND: Heparin cofactor II (HCII) is a hepatic serpin with significant antithrombin activity that has been implicated in coagulation, inflammation, atherosclerosis, and wound repair. Recent data obtained in mice lacking HCII suggest that this serpin might inhibit thrombosis in the arterial circulation. However, the clinical relevance and molecular mechanisms associated with deficiency of HCII in humans are unclear. METHODS AND RESULTS: We studied the first family with homozygous HCII deficiency, identifying a Glu428Lys mutation affecting a conserved glutamate at the hinge (P17) of the reactive loop. No carrier reported arterial thrombosis, and only 1 homozygous HCII-deficient patient developed severe deep venous thrombosis, but she also had a de novo Glu100Stop nonsense truncation in the antithrombin gene. CONCLUSIONS: Our results confirm the key structural role of the P17 glutamate in serpins. The same mutation causes conformational instability and polymerization in 3 serpins: Drosophila necrotic, human alpha1-antitrypsin, and human HCII, which explains their plasma deficiency. In the family under study here, however, plasma HCII deficiency was not associated with a significant clinical phenotype.

Adult↗
PubMed1989

Glutamine synthetase heterogeneous expression as a marker for the cellular lineage of preneoplastic and neoplastic liver populations.

The distribution of glutamine synthetase (GS) in rat liver and in putative preneoplastic and neoplastic lesions was studied at stages of hepatocarcinogenesis induced by diethylnitrosamine (DEN), 2-acetylaminofluorene (AAF) and aflatoxin B1 (AFB1) using immunohistochemistry. In control rats, GS was localized entirely to rings 1-3 cells deep surrounding the central veins. Exposure to DEN or AAF resulted in a reduction of these GS-positive (GS+) zones by 96 and 61% respectively, due to necrosis of the cells in this compartment, while AFB1 had little effect (less than 14%). At later times GS+ foci, adenomas and carcinomas developed in animals exposed to DEN or AAF, but not AFB1, corresponding to the acute effects. Small GS+ foci also identified by other phenotypic abnormalities (e.g. gamma-glutamyltransferase) were exclusively associated with the regenerating GS+ zone as were a few collections of GS+ hepatocytes, the nature of which was uncertain. Although accounting for a very small fraction (less than 3%) of total foci, these GS+ foci or GS+ hepatocytes apparently gave rise to a substantial fraction of adenomas that were GS+ (DEN: 43% and AAF: 33%) and an even higher percentage of GS+ carcinomas (DEN: 59% and AAF: 39%). No GS+ neoplasms were induced by AFB1. Statistical evaluation of these data strongly suggests that GS+ neoplasms originate through initiation of hepatocytes which possess this particular phenotype. Thus, GS might serve as a specific marker for tracing cell lineage relationships during hepatocarcinogensis. The GS+ phenotype which confers glutamine independence may also provide a growth advantage.

2-Acetylaminofluorene↗
PubMed2006

Methanococcus aeolicus sp. nov., a mesophilic, methanogenic archaeon from shallow and deep marine sediments.

Three strains of CO(2)-reducing methanogens were isolated from marine sediments. Strain PL-15/H(P) was isolated from marine sediments of the Lipari Islands, near Sicily and the other two strains, Nankai-2 and Nankai-3(T), were isolated from deep marine sediments of the Nankai Trough, about 50 km from the coast of Japan. Analysis of the cellular proteins and 16S rRNA gene sequences indicated that these three strains represented a single novel species that formed a deep branch of the mesophilic methanococci. Phylogenetic analysis indicated that the three strains were most closely related to Methanothermococcus okinawensis (95 % 16S rRNA gene sequence similarity). However, strains PL-15/H(P), Nankai-2 and Nankai-3(T) grew at temperatures that were more similar to those of recognized species within the genus Methanococcus. Strain Nankai-3(T) grew fastest at 46 degrees C. Results of physiological and biochemical tests allowed the genotypic and phenotypic differentiation of strains PL-15/H(P), Nankai-2 and Nankai-3(T) from closely related species. The name Methanococcus aeolicus sp. nov. is proposed, with strain Nankai-3(T) (=OCM 812(T)=DSM 17508(T)) as the type strain.

Archaeal Proteins↗
PubMed2004

Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy.

Two unusual cases of axonal neuropathy associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency are described. These two unrelated infants presented with profound generalised weakness, particularly affecting the upper limbs. Clinical examination revealed generalised peripheral hypotonia and weakness, with absent deep tendon reflexes. An axonal polyneuropathy was confirmed on electromyogram (EMG) and nerve conduction studies (NCS) and, following an extensive metabolic screen, an acylcarnitine and organic acid profile consistent with a short-chain fatty acid beta-oxidation defect was found. In both cases, SCAD deficiency was confirmed by enzyme analysis. Genetic analysis showed the presence of common gene variations in the SCAD gene. SCAD deficiency is a rare disorder with a wide clinical phenotype. SCAD deficiency associated with axonal neuropathy has not previously been reported. As highlighted in these cases, it may be necessary to include axonal neuropathy as a presenting feature of SCAD.

Age of Onset↗
PubMed1995

Fine needle aspiration for flow cytometry immunophenotyping of non Hodgkin lymphoma.

The aim was to evaluate the usefulness of lymph node biopsies obtained by fine needle aspiration (FNA) for immunophenotyping of non Hodgkin lymphoma (NHL). Seventeen superficial and deep lymph node samples were fractioned for conventional cytological examination and immunophenotyping studies. Out of ten NHL, nine were readily detected by flow cytometry (FC), while failure on the remaining case was due to selective loss of large cell population, which is liable to occur with this procedure. A single case, which proved negative for all markers employed, was finally diagnosed by immunohistochemistry as germ cell tumor. The other six cases, presenting lymphoid population without phenotypic abnormalities, were diagnosed by cytology and/or histology as Hodgkin disease or hyperplasic disorders. To conclude, FC immunophenotyping seems to improve the efficacy of FNA in NHL diagnosis, whereas for Hodgkin disease and hyperplasic disorders, classic morphological criteria are more useful for differential diagnosis. Although FNA for FC immunophenotyping cannot replace histopathological examination for NHL diagnosis, it proves to be a useful tool for staging and follow up, making surgical procedures for sample collection unnecessary.

Biopsy, Needle↗