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Sample records for familial amyloidotic polyneuropathy

  1. Cutaneous manifestations of familial amyloidotic polyneuropathy.

    PubMed

    Rocha, N; Velho, G; Horta, M; Martins, A; Massa, A

    2005-09-01

    Familial amyloidotic polyneuropathy is an autosomal dominant amyloidosis, characterized by the systemic deposition of amyloid with a particular involvement of the peripheral nerves. The disease generally manifests as a severe sensory, motor and autonomic neuropathy. Cardiomyopathy, nephropathy, vitreous opacities and carpal tunnel syndrome may occur in a variable association with the neuropathy. Trophic dermatological lesions are frequent in the more advanced stages of the disease. We examined the skin of 142 patients. The cutaneous manifestations more frequently observed were: xerosis (81.6%), seborrheic dermatitis (21.8%), traumatic and burn lesions (19.7%), acne (18.3%), neurotrophic ulcers (14%) and onychomycosis (10.5%). Among the hepatic transplanted patients (31%), seborrheic dermatitis and acne were the most frequent diagnoses.

  2. Rapid progression of familial amyloidotic polyneuropathy

    PubMed Central

    Coelho, Teresa; Obici, Laura; Merlini, Giampaolo; Mincheva, Zoia; Suanprasert, Narupat; Bettencourt, Brian R.; Gollob, Jared A.; Gandhi, Pritesh J.; Litchy, William J.; Dyck, Peter J.

    2015-01-01

    Objectives: To assess the association between severity of neuropathy and disease stage, and estimate the rate of neuropathy progression in a retrospective cross-sectional analysis of a multinational population of patients with familial amyloidotic polyneuropathy (FAP). Methods: We characterize neuropathy severity and rate of progression in available patients with FAP in France, the United States, Portugal, and Italy. Neuropathy Impairment Scores (NIS), time from symptom onset to NIS measurement, polyneuropathy disability (PND) scores, FAP disease stage, and manual grip strength data were collected. We estimated neuropathy progression using Loess Fit and Gompertz Fit models. Results: For the 283 patients studied (mean age, 56.4 years), intercountry genotypic variation in the transthyretin (TTR) mutation was observed, with the majority of patients in Portugal (92%) having early-onset Val30Met-FAP. There was also marked intercountry variation in PND score, FAP stage, and TTR stabilizer use. NIS was associated with PND score (NIS 10 and 99 for scores I and IV, respectively; p < 0.0001) and FAP stage (NIS 14 and 99 for stages 1 and 3, respectively; p < 0.0001). In addition, there was an association between NIS and TTR genotype. The estimated rate of NIS progression for a population with a median NIS of 32 was 14.3 points/year; the corresponding estimated rate for the modified NIS+7 is 17.8 points/year. Conclusions: In a multinational population of patients with FAP, rapid neuropathic progression is observed and the severity of neuropathy is associated with functional scales of locomotion. PMID:26208957

  3. A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.

    PubMed Central

    Benson, M D; Julien, J; Liepnieks, J; Zeldenrust, S; Benson, M D

    1993-01-01

    A transthyretin mutation was discovered in a French family with familial amyloidotic polyneuropathy originally described in 1983. The syndrome is of early onset (approximate age 35 to 40) with carpal tunnel syndrome. Death is from cardiac disease. By direct genomic DNA sequencing an A-->G mutation was found in the position corresponding to the first base of transthyretin codon 49. The predicted alanine for threonine substitution in the transthyretin protein was proven by amino acid sequencing of transthyretin isolated from the plasma of an affected subject. Since the DNA mutation does not result in the creation or abolition of a restriction endonuclease recognition site, a new DNA analysis technique was used in which site directed mutagenesis is used to create an RFLP when the introduced mutation is in proximity to the natural mutation. Using a 27 nucleotide mutagenesis primer in the PCR reaction, a new Bg1I site was created on amplification of the variant allele. Using this test, termed PCR-IMRA, four affected members of the family were shown to have the mutation. Images PMID:8095301

  4. Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss).

    PubMed Central

    Dwulet, F E; Benson, M D

    1986-01-01

    Amyloid fibrils were isolated from cardiac tissue of two brothers who died from familial amyloidotic polyneuropathy (FAP) type II. Sequence analysis on peptides derived from proteolytic cleavage with trypsin and fragmentation with cyanogen bromide reveal that the fibril subunit protein is derived from plasma transthyretin (prealbumin). About two-thirds of the fibril subunit protein was found to contain an amino acid substitution at position 84 where the normal isoleucine residue has been replaced by serine. Sequence analysis of the plasma transthyretin (prealbumin) from the two brothers as well as two clinically diagnosed FAP type II family members and two of four children of affected individuals showed the presence of serine at position 84. The presence of this substitution also correlates with low serum levels of retinol-binding protein and thus transthyretin (prealbumin) position 84 may be involved with the interaction of these two proteins. Images PMID:3760189

  5. Vocal Cord Paralysis and Hypercapnic Respiratory Failure in a Patient with Familial Amyloidotic Polyneuropathy.

    PubMed

    Pıhtılı, Aylin; Bingol, Züleyha; Durmuş, Hacer; Parman, Yeşim; Kıyan, Esen

    2016-01-01

    We herein report a patient case with familial amyloidotic polyneuropathy (FAP) who presented with vocal cord paralysis (VCP). A 60-year-old man with FAP (Gly89Gln) presented with hoarseness and snoring for the previous two years. A chest X-ray demonstrated cardiomegaly and bilateral diaphragmatic elevation. The findings of a restrictive pattern on spirometry and daytime hypercapnia were consistent with respiratory muscle weakness related to neuropathy [forced expiratory volume (FEV1): 38%, forced vital capacity (FVC): 39%, FEV1/FVC: 77, partial pressure of arterial oxygen (PaO2): 80 mmHg, partial pressure of carbon dioxide in arterial blood (PaCO2): 52 mmHg]. An ear-nose-throat examination showed VCP. Polysomnography revealed severe obstructive sleep apnea (OSA). FAP may cause OSA by VCP and hypercapnic respiratory failure by respiratory muscle weakness. Therefore, an ear-nose-throat examination, spirometry, arterial blood gases analysis and polysomnography are important for these patients.

  6. A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected.

    PubMed Central

    Coelho, T; Sousa, A; Lourenço, E; Ramalheira, J

    1994-01-01

    We reviewed 1233 cases of familial amyloidotic polyneuropathy (FAP) from 489 Portuguese families registered at the Centro de Estudos de Paramiloidose, Porto, Portugal. It was found that in 159 cases, neither parent had shown symptoms of this hereditary dominant form of peripheral neuropathy. These cases appear to form a distinct group, with a later age at onset (mean 45.1 years, SD 12.0) than the group of patients with one affected parent (mean 31.2 years, SD 6.9) and a geographical origin not quite in the areas where the disease is most prevalent. Though this group is not significantly different from the general group of patients in clinical presentation at onset and severity of the disease, the average interval between onset and diagnosis (mean 4.5 years, SD 3.2) reflects the difficulties in diagnosing these patients in the absence of a positive family history. From the analysis of pedigrees and in spite of a large number of isolated cases, the occurrence of new mutations could not be proven, and it seems more likely that, in some families, the FAP gene may result in a milder expression or even remain "silent" for several generations. Further investigation of this discrepancy may prove to be important in elucidating the mechanisms involved in the pathogenetic process. PMID:8071954

  7. Identification of carriers of a variant plasma prealbumin (transthyretin) associated with familial amyloidotic polyneuropathy type I.

    PubMed Central

    Benson, M D; Dwulet, F E

    1985-01-01

    A method is described for detecting carriers of a variant plasma prealbumin that is associated with familial amyloidotic polyneuropathy (FAP) type I. It is based on the finding of an extra methionine in the variant prealbumin, at position 30 from the amino terminals. Since normal prealbumin has only one methionine (position 13), treatment with cyanogen bromide (CNBr), which cleaves only at methionines, results in two peptides. CNBr treatment of the variant prealbumin gives three peptides. The extra can then be detected in two ways: by HPLC using a reverse phase C18 column, and by sequential Edman degradation. Each method can detect as little as 1% variant prealbumin in isolated plasma prealbumin, and therefore, can identify carriers of the gene for the variant protein. Since FAP type I usually is not manifest until after the childbearing years, this method to identify carriers of the gene offers a new approach for genetic counseling of families with this disease. To date, kindreds with hereditary amyloidosis that could benefit from these studies include those with FAP type I of Swedish, Japanese, and Portuguese origins. PMID:2981253

  8. High incidence of thrombotic complications early after liver transplantation for familial amyloidotic polyneuropathy.

    PubMed

    Bispo, Miguel; Marcelino, Paulo; Freire, António; Martins, Américo; Mourão, Luís; Barroso, Eduardo

    2009-02-01

    Early thrombotic complications are critical causes of in-hospital morbidity after orthotopic liver transplantation (OLT), potentially culminating in graft loss. The aim of this study was to retrospectively analyse these complications, trying to identify associated independent risk factors. This retrospective analysis included 223 OLTs performed on 213 patients, in a 30-month period. Eighty-six OLTs were performed on familial amyloidotic polyneuropathy (FAP) patients. Preoperative details (primary diagnosis and Child-Turcotte-Pugh classification, when applicable), surgical features (including type of arterial reconstruction), postoperative variables and outcome were analysed. The observation period ended 30 days post-OLT, until discharge or in-hospital death. Early thrombotic complications were diagnosed in 16 cases (7.2%), affecting mainly FAP patients (n = 12). Hepatic artery thrombosis (HAT) was the most frequent early thrombotic event (n = 12): incidence in FAP patients 11.6% (n = 10) versus incidence in non FAP patients 1.5% (n = 2), P = 0.001. By logistic regression analysis, FAP turned out to be an independent risk factor for early thrombotic complications, and specifically for HAT. The type of arterial reconstruction and other analysed surgical and medical factors did not influence early HAT occurrence. In conclusion, FAP was identified in this study as an independent risk factor for early HAT, a new datum not yet described in the literature.

  9. DJ-1 degrades transthyretin and an inactive form of DJ-1 is secreted in familial amyloidotic polyneuropathy.

    PubMed

    Koide-Yoshida, Shizuyo; Niki, Takeshi; Ueda, Mitsuharu; Himeno, Shingo; Taira, Takahiro; Iguchi-Ariga, Sanae M M; Ando, Yukio; Ariga, Hiroyoshi

    2007-06-01

    DJ-1 plays roles in transcriptional regulation and anti-oxidative stress, and loss of its function is thought to result in the onset of Parkinson's disease. DJ-1 has a protease-like structure and transthyretin (TTR), a protein causing familial amyloidotic polyneuropathy (FAP), was identified as a substrate for DJ-1 protease in this study. Both TTR and DJ-1 were secreted into the culture medium under normal conditions, and secreted TTR was not aggregated. Under oxidative conditions, TTR but not DJ-1 was secreted into the culture medium, resulting in aggregation. Mirror images of both the expression patterns and solubility of DJ-1 and TTR were observed in tissues of FAP patients, and an unoxidized form of DJ-1, an inactive form, was secreted into the serum of FAP patients. These results suggest that oxidative stress to cells abrogates secretion of DJ-1 and that secreted DJ-1 degrades aggregated TTR to protect against the onset of FAP.

  10. Familial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis.

    PubMed

    Hund, Ernst

    2012-01-01

    Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a fatal clinical disorder characterized by extracellular deposition of abnormal fibrils derived from misfolded, normally soluble transthyretin (TTR) molecules. The disease is most commonly caused by a point mutation within the TTR gene inherited in an autosomal dominant fashion. Over 100 of such mutations have been identified, leading to destabilization of the physiological TTR tetramer. As a result, many monomers originate with a tendency for spontaneous conformational changes and self-aggregation. The main clinical feature of TTR-FAP is progressive sensorimotor and autonomic neuropathy. In the beginning, this polyneuropathy predominantly involves small unmyelinated nerve fibers with the result of dissociated sensory loss disproportionately affecting sensation of pain and temperature. Autonomic neuropathy typically accompanies sensory deficits early in the disease course. The symptoms include orthostatic hypotension, constipation alternating with diarrhea, erectile dysfunction, anhydrosis, and urinary retention or incontinence. Later, involvement of motor fibers causes rapidly progressive weakness and gait disturbances. In addition to the peripheral nervous system, the heart and the gut are frequently affected. Onset of symptoms is bimodal, with one peak at age 33 years (early onset) and another distinct peak in the sixth decade of life (late onset). The course of TTR-FAP is uniformly progressive and fatal. Death occurs an average of 10.8 years after the onset of symptoms in Portuguese patients, and 7.3 years in late-onset Japanese patients. Common causes include cachexia, cardiac failure, arrhythmia, and secondary infections. Liver transplantation is the standard therapy for patients who are in a clinical condition good enough to tolerate this intervention because it stops progression of neuropathy by removing the main source of mutant TTR. Recently, orally administered tafamidis meglumine has been

  11. Familial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis

    PubMed Central

    Hund, Ernst

    2012-01-01

    Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a fatal clinical disorder characterized by extracellular deposition of abnormal fibrils derived from misfolded, normally soluble transthyretin (TTR) molecules. The disease is most commonly caused by a point mutation within the TTR gene inherited in an autosomal dominant fashion. Over 100 of such mutations have been identified, leading to destabilization of the physiological TTR tetramer. As a result, many monomers originate with a tendency for spontaneous conformational changes and self-aggregation. The main clinical feature of TTR-FAP is progressive sensorimotor and autonomic neuropathy. In the beginning, this polyneuropathy predominantly involves small unmyelinated nerve fibers with the result of dissociated sensory loss disproportionately affecting sensation of pain and temperature. Autonomic neuropathy typically accompanies sensory deficits early in the disease course. The symptoms include orthostatic hypotension, constipation alternating with diarrhea, erectile dysfunction, anhydrosis, and urinary retention or incontinence. Later, involvement of motor fibers causes rapidly progressive weakness and gait disturbances. In addition to the peripheral nervous system, the heart and the gut are frequently affected. Onset of symptoms is bimodal, with one peak at age 33 years (early onset) and another distinct peak in the sixth decade of life (late onset). The course of TTR-FAP is uniformly progressive and fatal. Death occurs an average of 10.8 years after the onset of symptoms in Portuguese patients, and 7.3 years in late-onset Japanese patients. Common causes include cachexia, cardiac failure, arrhythmia, and secondary infections. Liver transplantation is the standard therapy for patients who are in a clinical condition good enough to tolerate this intervention because it stops progression of neuropathy by removing the main source of mutant TTR. Recently, orally administered tafamidis meglumine has been

  12. Selective binding to transthyretin and tetramer stabilization in serum from patients with familial amyloidotic polyneuropathy by an iodinated diflunisal derivative

    PubMed Central

    2004-01-01

    In familial amyloidotic polyneuropathy, TTR (transthyretin) variants are deposited as amyloid fibrils. It is thought that this process involves TTR tetramer dissociation, which leads to partially unfolded monomers that aggregate and polymerize into amyloid fibrils. This process can be counteracted by stabilization of the tetramer. Several small compounds, such as diclofenac, diflunisal and flufenamic acid, have been reported to bind to TTR in vitro, in the T4 (thyroxine) binding channel that runs through the TTR tetramer, and consequently are considered to stabilize TTR. However, if these agents bind plasma proteins other than TTR, decreased drug availability will occur, compromising their use as therapeutic agents for TTR amyloidosis. In the present work, we compared the action of these compounds and of new derivatives designed to increase both selectivity of binding to TTR and inhibitory potency in relation to TTR amyloid fibril formation. We found two diflunisal derivatives that, in contrast with diclofenac, flufenamic acid and diflunisal, displaced T4 from TTR in plasma preferentially over binding to albumin and thyroxine binding globulin. The same diflunisal derivatives also had a stabilizing effect on TTR tetramers in plasma, as studied by isoelectric focusing of whole plasma under semi-denaturing conditions. In addition, by transmission electron microscopy, we demonstrated that, in contrast with other proposed TTR stabilizers (namely diclofenac, flufenamic acid and diflunisal), one of the diflunisal derivatives tested efficiently inhibited TTR aggregation. Taken together, our ex vivo and in vitro studies present evidence for the selectivity and efficiency of novel diflunisal derivates as TTR stabilizers and as inhibitors of fibril formation. PMID:15080795

  13. Systemic senile amyloidosis. Identification of a new prealbumin (transthyretin) variant in cardiac tissue: immunologic and biochemical similarity to one form of familial amyloidotic polyneuropathy.

    PubMed Central

    Gorevic, P D; Prelli, F C; Wright, J; Pras, M; Frangione, B

    1989-01-01

    Isolated amyloid fibrils from three cases of systemic senile amyloidosis (SSA) contained subunit proteins with molecular masses of 14 (10-20%), 10-12 (60-80%), and 5-6 kD (5-10%) when fractionated under reducing and dissociating conditions. This grouping was identical to that seen in SKO, a case of familial amyloidotic polyneuropathy (FAP) studied earlier. Amino acid sequencing confirmed that SSA subunit proteins were in fact prealbumin (transthyretin). Complete sequence analysis of one SSA preparation revealed the presence of a new variant Pa (TTr) molecule with a single amino acid substitution of isoleucine for valine at position 122. Further studies used an antiserum specific for SKO IV, a subunit protein of SKO previously shown to correspond to carboxy-terminal 78 residues (positions 49-127) of (TTr). Anti-SKO IV reacted with SSA in tissue at equivalent dilutions to anti-Pa (TTr) and with the 10-12-kD fraction of SSA on Western blots; reactivity was blocked by SKO IV, but not by Pa (TTr). SSA is a form of systemic amyloidosis caused by tissue deposition of Pa (TTr) and its fragments, with shared conformational or subunit antigenicity to at least one form of FAP. Identification of a new variant Pa (TTr) molecule in one case suggests further that SSA may be a genetically determined disease expressed late in life. Images PMID:2646319

  14. Familial amyloid polyneuropathy.

    PubMed

    Planté-Bordeneuve, Violaine; Said, Gerard

    2011-12-01

    Familial amyloid polyneuropathies (FAPs) are a group of life-threatening multisystem disorders transmitted as an autosomal dominant trait. Nerve lesions are induced by deposits of amyloid fibrils, most commonly due to mutated transthyretin (TTR). Less often the precursor of amyloidosis is mutant apolipoprotein A-1 or gelsolin. The first identified cause of FAP-the TTR Val30Met mutation-is still the most common of more than 100 amyloidogenic point mutations identified worldwide. The penetrance and age at onset of FAP among people carrying the same mutation vary between countries. The symptomatology and clinical course of FAP can be highly variable. TTR FAP typically causes a nerve length-dependent polyneuropathy that starts in the feet with loss of temperature and pain sensations, along with life-threatening autonomic dysfunction leading to cachexia and death within 10 years on average. TTR is synthesised mainly in the liver, and liver transplantation seems to have a favourable effect on the course of neuropathy, but not on cardiac or eye lesions. Oral administration of tafamidis meglumine, which prevents misfolding and deposition of mutated TTR, is under evaluation in patients with TTR FAP. In future, patients with FAP might benefit from gene therapy; however, genetic counselling is recommended for the prevention of all types of FAP.

  15. ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)

    ClinicalTrials.gov

    2016-10-11

    Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC); Amyloidosis, Hereditary; Amyloid Neuropathies, Familial; Amyloid Neuropathies; Amyloidosis, Hereditary, Transthyretin-Related; Familial Transthyretin Cardiac Amyloidosis

  16. Cutaneous Manifestations of Familial Transthyretin Amyloid Polyneuropathy.

    PubMed

    Lanoue, Julien; Wei, Nancy; Gorevic, Peter; Phelps, Robert G

    2016-10-01

    Familial amyloid polyneuropathy (FAP) is a rare inherited autosomal dominant form of systemic amyloidosis, which classically presents with severe motor, sensory, and autonomic dysfunction. Cutaneous involvement does not become clinically apparent until late stage symptomatic disease and is rarely reported in modern literature. Here, the authors review the clinical and histologic cutaneous findings of FAP previously described in the literature and report on 3 patients with unique genetic mutations (Thr60Ala and Gly6Ser; Trp41Leu; Glu89Gln) for which cutaneous involvement has not previously been described. Histologically, our patients showed variable amyloid deposition in the subcutaneous adipose tissue, papillary dermis, and dermal blood vessel walls. A review of the literature suggests cutaneous transthyretin deposition is an underrecognized feature of FAP that occurs early on in disease, even before neural involvement and related symptoms as seen in one of our patients. As such, a cutaneous punch biopsy can serve as quick, easy, and relatively noninvasive diagnostic tool in suspected cases.

  17. Tafamidis for transthyretin familial amyloid polyneuropathy

    PubMed Central

    Maia, Luis F.; Martins da Silva, Ana; Waddington Cruz, Marcia; Planté-Bordeneuve, Violaine; Lozeron, Pierre; Suhr, Ole B.; Campistol, Josep M.; Conceição, Isabel Maria; Schmidt, Hartmut H.-J.; Trigo, Pedro; Kelly, Jeffery W.; Labaudinière, Richard; Chan, Jason; Packman, Jeff; Wilson, Amy; Grogan, Donna R.

    2012-01-01

    Objectives: To evaluate the efficacy and safety of 18 months of tafamidis treatment in patients with early-stage V30M transthyretin familial amyloid polyneuropathy (TTR-FAP). Methods: In this randomized, double-blind trial, patients received tafamidis 20 mg QD or placebo. Coprimary endpoints were the Neuropathy Impairment Score–Lower Limbs (NIS-LL) responder analysis (<2-point worsening) and treatment-group difference in the mean change from baseline in Norfolk Quality of Life–Diabetic Neuropathy total score (TQOL) in the intent-to-treat (ITT) population (n = 125). These endpoints were also evaluated in the efficacy-evaluable (EE; n = 87) population. Secondary endpoints, including changes in neurologic function, nutritional status, and TTR stabilization, were analyzed in the ITT population. Results: There was a higher-than-anticipated liver transplantation dropout rate. No differences were observed between the tafamidis and placebo groups for the coprimary endpoints, NIS-LL responder analysis (45.3% vs 29.5% responders; p = 0.068) and change in TQOL (2.0 vs 7.2; p = 0.116) in the ITT population. In the EE population, significantly more tafamidis patients than placebo patients were NIS-LL responders (60.0% vs 38.1%; p = 0.041), and tafamidis patients had better-preserved TQOL (0.1 vs 8.9; p = 0.045). Significant differences in most secondary endpoints favored tafamidis. TTR was stabilized in 98% of tafamidis and 0% of placebo patients (p < 0.0001). Adverse events were similar between groups. Conclusions: Although the coprimary endpoints were not met in the ITT population, tafamidis was associated with no trend toward more NIS-LL responders and a significant reduction in worsening of most neurologic variables, supporting the hypothesis that preventing TTR dissociation can delay peripheral neurologic impairment. Classification of evidence: This study provides Class II evidence that 20 mg tafamidis QD was associated with no difference in clinical progression in

  18. Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy

    PubMed Central

    Barroso, Fabio; González‐Duarte, Alejandra; Conceição, Isabel; Obici, Laura; Keohane, Denis; Amass, Leslie

    2016-01-01

    ABSTRACT Transthyretin familial amyloid polyneuropathy (TTR‐FAP) is a rare, severe, and irreversible, adult‐onset, hereditary disorder caused by autosomal‐dominant mutations in the TTR gene that increase the intrinsic propensity of transthyretin protein to misfold and deposit systemically as insoluble amyloid fibrils in nerve tissues, the heart, and other organs. TTR‐FAP is characterized by relentless, progressively debilitating polyneuropathy, and leads to death, on average, within 10 years of symptom onset without treatment. With increased availability of disease‐modifying treatment options for a wider spectrum of patients with TTR‐FAP, timely detection of the disease may offer substantial clinical benefits. This review discusses mutation‐specific predictive genetic testing in first‐degree relatives of index patients diagnosed with TTR‐FAP and the structured clinical follow‐up of asymptomatic gene carriers for prompt diagnosis and early therapeutic intervention before accumulation of substantial damage. Muscle Nerve 54: 353–360, 2016 PMID:27273296

  19. Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy.

    PubMed

    Schmidt, Hartmut H-J; Barroso, Fabio; González-Duarte, Alejandra; Conceição, Isabel; Obici, Laura; Keohane, Denis; Amass, Leslie

    2016-09-01

    Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, severe, and irreversible, adult-onset, hereditary disorder caused by autosomal-dominant mutations in the TTR gene that increase the intrinsic propensity of transthyretin protein to misfold and deposit systemically as insoluble amyloid fibrils in nerve tissues, the heart, and other organs. TTR-FAP is characterized by relentless, progressively debilitating polyneuropathy, and leads to death, on average, within 10 years of symptom onset without treatment. With increased availability of disease-modifying treatment options for a wider spectrum of patients with TTR-FAP, timely detection of the disease may offer substantial clinical benefits. This review discusses mutation-specific predictive genetic testing in first-degree relatives of index patients diagnosed with TTR-FAP and the structured clinical follow-up of asymptomatic gene carriers for prompt diagnosis and early therapeutic intervention before accumulation of substantial damage. Muscle Nerve 54: 353-360, 2016.

  20. Repurposing Diflunisal for Familial Amyloid Polyneuropathy: A Randomized Clinical Trial

    PubMed Central

    Berk, John L.; Suhr, Ole B.; Obici, Laura; Sekijima, Yoshiki; Zeldenrust, Steven R.; Yamashita, Taro; Heneghan, Michael A.; Gorevic, Peter D.; Litchy, William J.; Wiesman, Janice F.; Nordh, Erik; Corato, Manuel; Lozza, Alessandro; Cortese, Andrea; Robinson-Papp, Jessica; Colton, Theodore; Rybin, Denis V.; Bisbee, Alice B.; Ando, Yukio; Ikeda, Shu-ichi; Seldin, David C.; Merlini, Giampaolo; Skinner, Martha; Kelly, Jeffery W.; Dyck, Peter J.

    2014-01-01

    Importance Familial amyloid polyneuropathy (ATTR-FAP), a lethal genetic disease caused by aggregation of variant transthyretin, induces progressive peripheral nerve deficits and disability. Diflunisal, a non-steroidal anti-inflammatory agent, stabilizes transthyretin tetramers and prevents amyloid fibril formation in vitro. Objective To determine the effect of diflunisal on polyneuropathy progression in patients with ATTR-FAP. Design, Setting, and Patients We conducted an investigator-initiated international, randomized, double-blind, placebo-controlled study at amyloid centers in Sweden (Umea), Italy (Pavia), Japan (Matsumoto and Kumamoto), England (London), and the United States (Boston, New York, Rochester, MN) from 2006 through 2012. 130 ATTRFAP patients with clinically detectable peripheral or autonomic neuropathy were randomly assigned to diflunisal 250 mg or placebo twice daily for 2 years. Main Outcome Measures The primary endpoint, the difference in polyneuropathy progression between treatments, was measured by the Neuropathy Impairment Score plus 7 nerve tests (NIS+7) which ranges from 0 (no neurologic deficits) to 270 points (no detectable peripheral nerve function). Secondary outcomes included a quality of life questionnaire (Short Form-36 (SF-36)) and modified body mass index (mBMI). Results One hundred thirty randomized patients (66 placebo, 64 diflunisal) underwent serial NIS+7 evaluations over 2 years. Due to attrition, we employed likelihood based modeling and multiple imputation (MI) analysis of baseline to 2 year data. By MI, NIS+7 increased 25.0 points (95% CI, 18.4 to 31.6) among placebo and 8.7 points (95% CI, 3.3 to 14.1) in the diflunisal group, a difference of 16.3 points (95% CI, 8.1 to 24.5, p=0.001). Mean SF-36 physical scores fell 4.9 points (95% CI, −7.6 to −2.2) among placebo and rose 1.5 points (95% CI, −0.8 to 3.7) in the diflunisal group (p=0.003). SF-36 mental scores declined 1.1 (95% CI, −4.3 to 2.0) among placebo while

  1. [Perioperative management for liver transplant in a patient with familial amyloid polyneuropathy with heart involvement].

    PubMed

    López-Herrera Rodríguez, D; Guerrero Domínguez, R; Mellado Miras, P; Gómez Sosa, L

    2015-01-01

    Familial amyloid polyneuropathy (FAP) is a systemic amyloidosis caused by mutated transthyretin. Cardiac amyloidosis, the major prognostic determinant in systemic amyloidosis, is characterized by infiltration of the myocardium, leading to cardiomyopathy and conduction disturbances. Liver transplantation is the only curative option for patients with FAP. The case is presented of a 36-year-old patient with type i FAP with cardiac involvement, proposed for liver transplant surgery, which was successfully performed without any preoperative event of interest.

  2. Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.

    PubMed

    Korn-Lubetzki, Isabelle; Argov, Zohar; Raas-Rothschild, Annick; Wirguin, Itzchak; Steiner, Israel

    2002-12-01

    Hereditary neuropathy with liability to pressure palsies (HNPP), classically presenting as recurrent focal neuropathies precipitated by trauma or compression, is an autosomal dominant neuropathy due to a deletion at chromosomal locus 17p12. Inflammatory demyelinating polyneuropathy (IDP), a putative autoimmune disorder presenting in an acute (AIDP) or a chronic form (CIDP), has been rarely reported as familial. We present a father and two daughters of Jewish Kurdish origin who developed IDP within 10 years. The unusual familial history led us to reevaluate the diagnosis of IDP, and suggested an autosomal dominant pedigree. DNA analysis identified the deletion typical of HNPP on chromosome 17. Screening for the HNPP deletion in patients with atypical, recurrent, or familial IDP might be warranted.

  3. In vivo detection of nerve injury in familial amyloid polyneuropathy by magnetic resonance neurography

    PubMed Central

    Hund, Ernst; Hornung, Benjamin; Hegenbart, Ute; Schönland, Stefan O.; Kimmich, Christoph; Kristen, Arnt V.; Purrucker, Jan; Röcken, Christoph; Heiland, Sabine; Bendszus, Martin; Pham, Mirko

    2015-01-01

    Transthyretin familial amyloid polyneuropathy is a rare, autosomal-dominant inherited multisystem disorder usually manifesting with a rapidly progressive, axonal, distally-symmetric polyneuropathy. The detection of nerve injury by nerve conduction studies is limited, due to preferential involvement of small-fibres in early stages. We investigated whether lower limb nerve-injury can be detected, localized and quantified in vivo by high-resolution magnetic resonance neurography. We prospectively included 20 patients (12 male and eight female patients, mean age 47.9 years, range 26–66) with confirmed mutation in the transthyretin gene: 13 with symptomatic polyneuropathy and seven asymptomatic gene carriers. A large age- and sex-matched cohort of healthy volunteers served as controls (20 male and 20 female, mean age 48.1 years, range 30–73). All patients received detailed neurological and electrophysiological examinations and were scored using the Neuropathy Impairment Score–Lower Limbs, Neuropathy Deficit and Neuropathy Symptom Score. Magnetic resonance neurography (3 T) was performed with large longitudinal coverage from proximal thigh to ankle-level and separately for each leg (140 axial slices/leg) by using axial T2-weighted (repetition time/echo time = 5970/55 ms) and dual echo (repetition time 5210 ms, echo times 12 and 73 ms) turbo spin echo 2D sequences with spectral fat saturation. A 3D T2-weighted inversion-recovery sequence (repetition time/echo time 3000/202 ms) was acquired for imaging of the spinal nerves and lumbar plexus (50 axial slice reformations). Precise manual segmentation of the spinal/sciatic/tibial/common peroneal nerves was performed on each slice. Histogram-based normalization of nerve–voxel signal intensities was performed using the age- and sex-matched control group as normative reference. Nerve-voxels were subsequently classified as lesion-voxels if a threshold of >1.2 (normalized signal-intensity) was exceeded. At distal thigh

  4. High 99mTc-DPD myocardial uptake in a patient with apolipoprotein AI-related amyloidotic cardiomyopathy.

    PubMed

    Quarta, Candida Cristina; Obici, Laura; Guidalotti, Pier Luigi; Pieroni, Maurizio; Longhi, Simone; Perlini, Stefano; Verga, Laura; Merlini, Giampaolo; Rapezzi, Claudio

    2013-03-01

    Amyloidotic cardiomyopathy is still a widely underdiagnosed condition that usually requires endomyocardial biopsy (EMB) for a definite diagnosis. 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD) has proven highly sensitive for detecting amyloidotic cardiomyopathy due to transthyretin-related amyloid deposition. Herein we report the first description of the (99mTc-DPD scintigraphy profile in a patient with suspected amyloidotic cardiomyopathy and a final EMB- and genetically-proven diagnosis of familial apolipoprotein AI amyloidosis due to Leu174Ser variant.

  5. Ocular Manifestations and Therapeutic Options in Patients with Familial Amyloid Polyneuropathy: A Systematic Review

    PubMed Central

    Martins, A. C.; Rosa, A. M.; Costa, E.; Tavares, C.; Quadrado, M. J.; Murta, J. N.

    2015-01-01

    Purpose. This paper aims to review the morphological and functional characteristics of patients affected by familial amyloid polyneuropathy (FAP), with greater focus on type I and its progression after liver transplantation. We also analyse therapeutic options for the ophthalmic manifestations. Methods. The literature from 2002 through 2015 was reviewed, with a total of 45 articles studied, using the key terms related to amyloidosis and its therapeutic approaches. Information was collated, evaluated, critically assessed, and then summarised in its present form. Pathophysiology and Treatment. FAP results from mutation of the transthyretin gene, with Val30Met being the most frequent substitution. The symptoms are those typical of a sensorimotor autonomic neuropathy and can be halted with liver transplantation. Nowadays there are new medical therapies that delay the progression of the systemic neuropathy. However, there are still no options to avoid ocular disease. Conclusion. The main ocular manifestations in patients with FAP type I are amyloid deposition in the vitreous, dry eye, and secondary glaucoma. Despite liver transplantation, eye synthesis of amyloid persists and is associated with progressive ocular manifestations, which require continued ophthalmologic follow-up. New therapeutic strategies are therefore needed, particularly to target the ocular synthesis of the abnormal protein. PMID:26558262

  6. First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy

    PubMed Central

    Adams, David; Suhr, Ole B.; Hund, Ernst; Obici, Laura; Tournev, Ivailo; Campistol, Josep M.; Slama, Michel S.; Hazenberg, Bouke P.; Coelho, Teresa

    2016-01-01

    Purpose of review Early and accurate diagnosis of transthyretin familial amyloid polyneuropathy (TTR-FAP) represents one of the major challenges faced by physicians when caring for patients with idiopathic progressive neuropathy. There is little consensus in diagnostic and management approaches across Europe. Recent findings The low prevalence of TTR-FAP across Europe and the high variation in both genotype and phenotypic expression of the disease means that recognizing symptoms can be difficult outside of a specialized diagnostic environment. The resulting delay in diagnosis and the possibility of misdiagnosis can misguide clinical decision-making and negatively impact subsequent treatment approaches and outcomes. Summary This review summarizes the findings from two meetings of the European Network for TTR-FAP (ATTReuNET). This is an emerging group comprising representatives from 10 European countries with expertise in the diagnosis and management of TTR-FAP, including nine National Reference Centres. The current review presents management strategies and a consensus on the gold standard for diagnosis of TTR-FAP as well as a structured approach to ongoing multidisciplinary care for the patient. Greater communication, not just between members of an individual patient's treatment team, but also between regional and national centres of expertise, is the key to the effective management of TTR-FAP. PMID:26734952

  7. Genotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France

    PubMed Central

    Mariani, Louise‐Laure; Lozeron, Pierre; Théaudin, Marie; Mincheva, Zoia; Signate, Aissatou; Ducot, Beatrice; Algalarrondo, Vincent; Denier, Christian; Adam, Clovis; Nicolas, Guillaume; Samuel, Didier; Slama, Michel S.; Lacroix, Catherine; Misrahi, Micheline; Adams, David

    2015-01-01

    Objective To compare the natural history of familial transthyretin amyloid polyneuropathies (FAP) due to the Val30Met, Ser77Tyr, and Ile107Val mutations in France with the classical Portuguese Val30Met FAP. Methods We compared 84 French patients with a control group of 110 Portuguese patients carrying the Val30Met mutation also living in France, all referred to and followed at the French National FAP Reference Center from 1988 to 2010. Clinical examination, functional and walking disability scores, nerve conduction studies, and muscle biopsies are reported. We also conducted a comprehensive literature review to further determine the range of phenotypic expression. Results By comparison with Portuguese Val30Met FAP, French Ile107Val, Ser77Tyr, and LateVal30Met FAP showed more rapid and severe disease progression; onset of gait disorders was 3 times more rapid (p < 0.0001) and the rate of modified Norris test decline was up to 40 times faster in Ile107Val patients (p < 0.0001). Median survival was much shorter in Ile107Val and in Val30Met mutation with late onset (>50 years; LateMet30) FAP (p = 0.0005). Other distinctive features relative to the Portuguese patients included atypical clinical presentations, demyelination on nerve conduction studies (p = 0.0005), and difficult identification of amyloid deposits in nerve and muscle biopsies. Interpretation Ile107Val and LateMet30 mutations are associated with the most debilitating and severe FAP ever described, with rapid onset of tetraparesis and shorter median survival. It could be explained by frequent large‐fiber involvement and associated demyelination and more severe axonal loss. These findings have major implications for genetic counseling and patient management as new therapeutic options are being assessed in clinical trials (TTR gene silencing). Ann Neurol 2015;78:901–916 PMID:26369527

  8. Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.

    PubMed

    Park, Mi-Hyun; Woo, Hae-Mi; Hong, Young Bin; Park, Ji Hoon; Yoon, Bo Ram; Park, Jin-Mo; Yoo, Jeong Hyun; Koo, Heasoo; Chae, Jong-Hee; Chung, Ki Wha; Choi, Byung-Ok; Koo, Soo Kyung

    2014-08-01

    Recessive mutations in chromosome 10 open reading frame 2 (C10orf2) are relevant in infantile-onset spinocerebellar ataxia (IOSCA). In this study, we investigated the causative mutation in a Korean family with combined phenotypes of IOSCA, sensorimotor polyneuropathy, and myopathy. We investigated recessive mutations in a Korean family with two individuals affected by IOSCA. Causative mutations were investigated using whole exome sequencing. Electrophysiological analyses and muscle and nerve biopsies were performed, along with magnetic resonance imaging (MRI) of the brain and lower extremities. Compound heterozygous mutations c.1460C>T and c.1485-1G>A in C10orf2 were identified as causative of IOSCA. Skeletal muscle showed mitochondrial DNA (mtDNA) deletions. Both patients showed a period of normal development until 12-15 months, followed by ataxia, athetosis, hearing loss, and intellectual disability. Electrophysiological findings indicated motor and sensory polyneuropathies. Muscle biopsy revealed variations in the size and shape of myofibers with scattered, small, and angulated degenerating myofibers containing abnormal mitochondria; these observations are consistent with myopathy and may be the result of mtDNA deletions. Sural nerve biopsy revealed an axonal neuropathy. High-signal-intensity lesions in the middle cerebellar peduncles were correlated with clinical severity, and MRI of the lower legs was compatible with the hypothesis of length-dependent axonal degeneration. We identified novel compound heterozygous mutations of the C10orf2 gene as the cause of IOSCA with sensorimotor polyneuropathy and myopathy. Signs of motor neuropathy and myopathy were discovered for the first time in IOSCA patients with C10orf2 mutations. These results suggest that the clinical spectrum of IOSCA caused by C10orf2 mutations may be more variable than previously reported.

  9. Early identification of amyloid heart disease by technetium-99m-pyrophosphate scintigraphy: a study with familial amyloid polyneuropathy

    SciTech Connect

    Hongo, M.; Hirayama, J.; Fujii, T.; Yamada, H.; Okubo, S.; Kusama, S.; Ikeda, S.

    1987-03-01

    To determine whether technetium-99m-pyrophosphate (Tc-99m-PYP) scanning or two-dimensional echocardiography can detect amyloid heart disease in an earlier stage of familial amyloid polyneuropathy, 15 patients were examined. Although 10 of the 15 patients had no clinical evidence of congestive heart failure, as well as normal ventricular wall thickness and normal values for left ventricular systolic function, five (50%) of them showed mild or moderate myocardial uptake. On the other hand, none had characteristic highly refractile myocardial echoes on the two-dimensional echocardiographic images (p less than 0.01), and values for diastolic function were reduced in four of the five and normal in the remaining one. In 85 control subjects, diffuse positive pyrophosphate scans of the heart were found in four (5%) of them (three with dilated cardiomyopathy and one with sarcoidosis), and highly refractile granular sparkling echoes were observed in nine (11%) (five with hypertrophic cardiomyopathy, three with aortic stenosis, and one with hypereosinophilic syndrome). We conclude that Tc-99m-PYP scanning is a more sensitive and specific method and may have the potential ability to detect amyloid heart disease in the earlier stage of familial amyloid polyneuropathy than two-dimensional echocardiography.

  10. Long-term treatment of transthyretin familial amyloid polyneuropathy with tafamidis: a clinical and neurophysiological study.

    PubMed

    Planté-Bordeneuve, Violaine; Gorram, Farida; Salhi, Hayet; Nordine, Tarik; Ayache, Samar S; Le Corvoisier, Philippe; Azoulay, Daniel; Feray, Cyrille; Damy, Thibaud; Lefaucheur, Jean-Pascal

    2017-02-01

    Tafamidis is a transthyretin (TTR) stabilizer recently approved to slow the neurologic impairment in TTR familial amyloid polyneuropathy (TTR-FAP). The pivotal studies on Tafamidis reported encouraging results on the short term, in the early onset Val30Met-TTR-FAP patients at an early stage of the neuropathy. However, the effect of the drug in the non-Val30Met patients, at a more advanced stage of the disease and on the long term, is less known. In this study, we report the effect of Tafamidis in 43 TTR-FAP patients with a variety of pathogenic mutations, including 53% of non-Val30Met variants, at different stages of neuropathy followed on the long term. General and neurological assessment was performed in a standardized protocol every 6-12 months along with neurophysiological variables, including testing of small nerve fibres. The mean follow-up under treatment was 2 years with a subset of 26 patients treated for 3 years. Overall, Tafamidis was well tolerated. A significant clinical deterioration of the neuropathy and the patient's general condition was observed across the 3 years follow-up, although neurophysiological parameters remained stable for the first 2 years. In contrast, patients had a significant increase of BMI under treatment. Deterioration of the neuropathy correlated to an older age at disease onset or treatment initiation and to poor clinical status at baseline. A higher BMI at baseline was associated with a lower progression of the neuropathy. About one-third of the patients who received 3 years of tafamidis had still preserved walking capacity or good clinical condition, suggesting that tafamidis slowed the disease progression in some patients. Overall, our work shows that tafamidis is well tolerated in TTR-FAP but does not prevent the steady progression of the neuropathy on the long term. Age, neurologic status, and general condition at baseline appear to be best predictors of tafamidis efficacy on the neurological function.

  11. Sensorimotor polyneuropathy

    MedlinePlus

    ... brain or spinal cord, it is called a peripheral neuropathy. Mononeuropathy means one nerve is involved. Polyneuropathy means ... In some cases, you can fully recover from peripheral neuropathy if your provider can find the cause and ...

  12. Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area

    PubMed Central

    Mazzeo, Anna; Russo, Massimo; Di Bella, Gianluca; Minutoli, Fabio; Stancanelli, Claudia; Gentile, Luca; Baldari, Sergio; Carerj, Scipione; Toscano, Antonio; Vita, Giuseppe

    2015-01-01

    Abstract Background: Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especially in Portugal, Sweden and Japan. However, more than one hundred other mutations have been described worldwide. A great phenotypic variability among patients with late- and early-onset has been reported. Objective: To present a detailed report of TTR-FAP patients diagnosed in our tertiary neuromuscular center, in a 20-year period. Methods: Clinical informations were gathered through the database of our center. Results: The study involved 76 individuals carrying a TTR-FAP mutation. Three phenotypes were identified, each corresponding to a different TTR variant, homogeneous within and heterogeneous between each other: i) Glu89Gln mutation, characterised by 5th – 6th decade onset, neuropathy as presenting symptoms, early heart dysfunction, cardiomyopathy as major cause of mortality followed by dysautonomia and cachexia; ii) Phe64Leu mutation, marked by familiarity reported in one-half of cases, late onset, severe peripheral neuropathy, moderate dysautonomia and mild cardiomyopathy, death for wasting syndrome; iii) Thr49Ala mutation, distinguished by onset in the 5th decade, autonomic disturbances as inaugural symptoms which may remain isolated for many years, moderate polyneuropathy, cachexia as major cause of mortality followed by cardiomyopathy. Conclusions: This survey highlighted a prevalence of 8.8/1,000,000 in Sicily Island. Good knowledge of the natural history of the disease according to different TTR mutations allow clinicians to optimise multiprofessional care for patients and to offer carriers a personalized follow-up to reveal first signs of the disease. PMID:27858761

  13. TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?

    PubMed

    Bonaïti, Bernard; Olsson, Malin; Hellman, Urban; Suhr, Ole; Bonaïti-Pellié, Catherine; Planté-Bordeneuve, Violaine

    2010-08-01

    The Val30Met transthyretin familial amyloid polyneuropathy (TTR-V30M-FAP) is the most frequent familial amyloidosis, with autosomal dominant transmission. This severe disease shows important differences in age of onset and penetrance. Recently, a difference in penetrance according to the gender of the transmitting parent was elicited in different geographic areas with a higher penetrance in case of maternal transmission of the trait. In addition, differences in mitochondrial haplogroup distribution in early and late onset Swedish and French cases of TTR-V30M-FAP suggested that a polymorphism of mitochondrial DNA could be one underlying mechanism of the phenotypic variation. We further investigated this hypothesis by modeling the penetrance function with a parent-of-origin and/or a mitochondrial polymorphism effect in samples of Portuguese (n=33) and Swedish families (n=86) with TTR-V30M-FAP in which several individuals had been tested for mitochondrial haplogroups. Our analysis showed that a mitochondrial polymorphism effect was sufficient to explain the observed difference in penetrance according to gender of the transmitting parent in the Portuguese sample, whereas, in the Swedish sample, a clear residual parent-of-origin effect remained. This study further supported the role of a mitochondrial polymorphism effect that might induce a higher penetrance in case of maternal inheritance of the disease. In clinical practice, these results might help to better delineate the individual disease risk and have a significant impact on the management of both patients and carriers.

  14. Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study

    PubMed Central

    2014-01-01

    Background Transthyretin-associated Familial Amyloid Polyneuropathy (TTR-FAP) is an autosomal dominant disease caused by the deposition of abnormal transthyretin that results from a gene mutation. Although rare worldwide, there are descriptions of several endemic foci, such as in Majorca, Balearic Islands, Spain. We aimed at describing a contemporary series of TTR-FAP patients in Son Llàtzer Hospital in Majorca from an epidemiological point of view in order to report their main clinical and laboratory characteristics. Methods A retrospective, observational study was performed. Medical records from adult patients diagnosed with TTR-FAP from a single hospital were reviewed. Results Out of a total of 107 cases, 75 subjects were included: asymptomatic carriers (52.3%) and symptomatic patients (47.7%). Mean age was 58.3 years at the time of the study, and 50.7% were men. Mean age at diagnosis was 49.8 years. In addition, 42 patients (39.2%) had received a liver transplant, and time to liver transplantation was on average 29.56 months from the initial diagnosis. They all had the Val30Met mutation. The organs of the nervous system were those most frequently impaired (57.3%), and 83.9% of the symptomatic patients were fully ambulant (stage 1). Family history was reported in 69.3% of the cases, with the patient’s father being the most commonly affected relative. Comorbidities were frequent, with high blood pressure being the most common. Conclusions Our findings provide additional information on this condition and are useful for describing the demographic features, clinical presentation, diagnosis, and natural course of TTR-FAP in Majorca. PMID:24572009

  15. Curcumin could reduce the monomer of TTR with Tyr114Cys mutation via autophagy in cell model of familial amyloid polyneuropathy

    PubMed Central

    Li, Hui; Zhang, Yu; Cao, Li; Xiong, Ran; Zhang, Bei; Wu, Li; Zhao, Zongbo; Chen, Sheng-Di

    2014-01-01

    Transthyretin (TTR) familial amyloid polyneuropathy (FAP) is an autosomal dominant inherited neurodegenerative disorder caused by various mutations in the transthyretin gene. We aimed to identify the mechanisms underlying TTR FAP with Tyr114Cys (Y114C) mutation. Our study showed that TTR Y114C mutation led to an increase in monomeric TTR and impaired autophagy. Treatment with curcumin resulted in a significant decrease of monomeric TTR by recovering autophagy. Our research suggests that impairment of autophagy might be involved in the pathogenesis of TTR FAP with Y114C mutation, and curcumin might be a potential therapeutic approach for TTR FAP. PMID:25382970

  16. Hypothyroidism and polyneuropathy.

    PubMed Central

    Beghi, E; Delodovici, M L; Bogliun, G; Crespi, V; Paleari, F; Gamba, P; Capra, M; Zarrelli, M

    1989-01-01

    The prevalence and characteristics of polyneuropathy were assessed using standard clinical and electrophysiological criteria in 39 consecutive outpatients with primary hypothyroidism, 15 of whom were previously untreated. Subjective complaints, mainly paraesthesiae, were recorded from 25 cases (64%) and objective findings supporting a clinical diagnosis of polyneuropathy were present in 13 (33%). Using standard electrophysiological criteria, a definite diagnosis of polyneuropathy was made in 28 cases (72%). The commonest sites of abnormal nerve conduction were the sensory nerves, especially the sural nerve. Polyneuropathy was generally mild. None of the clinical and biochemical indicators of hypothyroidism were significantly correlated with the electrophysiological signs of peripheral nerve impairment or the diagnosis of polyneuropathy. PMID:2559162

  17. Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.

    PubMed Central

    Hiltunen, T; Kiuru, S; Hongell, V; Heliö, T; Palo, J; Peltonen, L

    1991-01-01

    Familial amyloidosis of Finnish type (FAF) is one of the familial amyloidotic polyneuropathy (FAP) syndromes, a group of inherited disorders characterized by extracellular accumulation of amyloid and by clinical symptoms and signs of polyneuropathy. FAF, an autosomal dominant trait, belongs to those rare monogenic disorders which occur with increased frequency in the Finnish population: only single FAF cases have been reported from other populations. In most types of FAP syndromes the accumulating protein is a transthyretin variant. However, recent evidence has suggested that the amyloid peptides in FAF are related to gelsolin, an actin modulating protein. The gelsolin fragments isolated from at least one patient with amyloidosis have been reported to have an amino acid substitution, with asparagine replacing aspartic acid at position 187 of the plasma gelsolin. In this study allele-specific oligonucleotides were used to analyze three large FAF families with multiple affected individuals as well as healthy family members. We found the corresponding G-A mutation in nucleotide 654 of the plasma gelsolin gene to cosegregate with the disease. The result was confirmed by sequencing and strongly suggests that the mutation has caused all the FAF cases of these families. Since the disease is clustered in restricted areas on the southern coast of Finland, this mutation most probably causes the majority, if not all, of FAF cases in Finland. Images Figure 2 PMID:1652889

  18. Death anxiety and symbolic immortality in relatives at risk for familial amyloid polyneuropathy type I (FAP I, ATTR V30M).

    PubMed

    Santos, Paula I; Figueiredo, Eurico; Gomes, Inês; Sequeiros, Jorge

    2010-12-01

    This study is an investigation of the impact of familial amyloid polyneuropathy type I (FAP I, ATTR V30M) on death anxiety and symbolic immortality. Templer and Drolet's scales were administered to 524 individuals: (1) 84 relatives at risk, (2) 92 relatives not at risk for FAP I; and (3) a control group (n = 348) with no known hereditary disease in their families. At-risk relatives had, on average, a higher score for death anxiety and a lower score for symbolic immortality, than either those not-at-risk or controls. There were no significant differences in scores on either measure for those not-at-risk versus controls. Being at risk increases death anxiety and threatens the sense of symbolic immortality and psychosocial wellbeing. This may be true for other serious hereditary disorders as well. Genetic counsellors should become familiar with these concepts, feel comfortable initiating discussions about death with their patients, and be able to identify and reinforce their patients' and family members' sense of symbolic immortality.

  19. Chronic inflammatory polyneuropathy

    MedlinePlus

    ... to nerves outside the brain or spinal cord ( peripheral neuropathy ). Polyneuropathy means several nerves are involved. CIDP often ... Philadelphia, PA: Elsevier; 2016:chap 107. Shy ME. Peripheral neuropathies. In: Goldman L, Schafer AI, eds. Goldman's Cecil ...

  20. Involvement of Macrophages in the Pathogenesis of Familial Amyloid Polyneuropathy and Efficacy of Human iPS Cell-Derived Macrophages in Its Treatment

    PubMed Central

    Komohara, Yoshihiro; Takamatsu, Koutaro; Kakuma, Tatsuyuki; Tasaki, Masayoshi; Misumi, Yohei; Ueda, Mitsuharu; Ito, Takaaki; Senju, Satoru; Ando, Yukio

    2016-01-01

    We hypothesized that tissue-resident macrophages in familial amyloid polyneuropathy (FAP) patients will exhibit qualitative or quantitative abnormalities, that may accelerate transthyretin (TTR)-derived amyloid deposition. To evaluate this, we examined the number and subset of tissue-resident macrophages in heart tissue from amyloid-deposited FAP and control patients. In both FAP and control patients, tissue-resident macrophages in heart tissue were all Iba+/CD163+/CD206+ macrophages. However, the number of macrophages was significantly decreased in FAP patients compared with control patients. Furthermore, the proportion of intracellular TTR in CD14+ monocytes was reduced in peripheral blood compared with healthy donors. Based on these results, we next examined degradation and endocytosis of TTR in human induced pluripotent stem (iPS) cell-derived myeloid lineage cells (MLs), which function like macrophages. iPS-MLs express CD163 and CD206, and belong to the inhibitory macrophage category. In addition, iPS-MLs degrade both native and aggregated TTR in a cell-dependent manner in vitro. Further, iPS-MLs endocytose aggregated, and especially polymerized, TTR. These results suggest that decreased tissue-localized macrophages disrupt clearance of TTR-derived amyloid deposits, leading to progression of a pathological condition in FAP patients. To improve this situation, clinical application of pluripotent stem cell-derived MLs may be useful as an approach for FAP therapy. PMID:27695122

  1. Chronic Inflammatory Demyelinating Polyneuropathy

    PubMed Central

    Dimachkie, Mazen M.; Barohn, Richard J.

    2014-01-01

    Opinion statement Chronic Inflammatory polyneuropathies are an important group of neuromuscular disorders that present chronically and progress over more than 8 weeks, being referred to as chronic inflammatory demyelinating polyneuropathy (CIDP). Despite tremendous progress in elucidating disease pathogenesis, the exact triggering event remains unknown. Our knowledge regarding diagnosis and management of CIDP and its variants continues to expand, resulting in improved opportunities for identification and treatment. Most clinical neurologists will be involved in the management of patients with these disorders, and should be familiar with available therapies for CIDP. We review the distinctive clinical, laboratory, and electro-diagnostic features that aid in diagnosis. We emphasize the importance of clinical patterns that define treatment responsiveness and the most appropriate therapies in order to improve prognosis. PMID:23564314

  2. Peripheral Polyneuropathy and Mefloquine Prophylaxis

    PubMed Central

    Chester, Alexander C.; Sandroni, Paola

    2011-01-01

    We describe a case of a woman who developed a peripheral polyneuropathy shortly after completing 4 weekly doses of mefloquine hydrochloride (250 mg) malaria prophylaxis. Although mefloquine-related central nervous system neuropathy is well described in the literature, peripheral polyneuropathy similar to this case has been documented only once before, to our knowledge. PMID:22144435

  3. Polyneuropathy in critically ill patients.

    PubMed Central

    Bolton, C F; Gilbert, J J; Hahn, A F; Sibbald, W J

    1984-01-01

    Five patients developed a severe motor and sensory polyneuropathy at the peak of critical illness (sepsis and multiorgan dysfunction complicating a variety of primary illnesses). Difficulties in weaning from the ventilator as the critical illness subsided and the development of flaccid and areflexic limbs were early clinical signs. However, electrophysiological studies, especially needle electrode examination of skeletal muscle, provided the definite evidence of polyneuropathy. The cause is uncertain, but the electrophysiological and morphological features indicate a primary axonal polyneuropathy with sparing of the central nervous system. Nutritional factors may have played a role, since the polyneuropathy improved in all five patients after total parenteral nutrition had been started, including the three patients who later died of unrelated causes. The features allow diagnosis during life, and encourage continued intensive management since recovery from the polyneuropathy may occur. Images PMID:6094735

  4. An Isolated Case of Late-onset Amyloidogenic Transthyretin Type Familial Amyloid Polyneuropathy Associated with a Mutant Transthyretin Substituting Methionine for Valine at Position 30 Showing Latent Progressive Cardiac Involvement Confirmed by Serial Annual Electrocardiograms

    PubMed Central

    Sato, Chikako; Takaya, Tomofumi; Mori, Shumpei; Hasegawa, Kohei; Soga, Fumitaka; Tanaka, Hidekazu; Watanabe, Yoshiaki; Nishii, Tatsuya; Kono, Atsushi K.; Morinaga, Yukiko; Ishibashi-Ueda, Hatsue; Hirata, Ken-ichi

    2017-01-01

    Late-onset amyloidogenic transthyretin (ATTR) type familial amyloid polyneuropathy (FAP) shows features distinct from those of early-onset hereditary ATTR type FAP. We herein describe an asymptomatic 68-year-old man with late-onset ATTR type FAP whose serial annual electrocardiograms demonstrated progressive left bundle branch block. Latent but severe cardiac involvement seems to be one feature of late-onset ATTR type FAP, similar to senile systemic amyloidosis (SSA). Early differential diagnosis of late-onset ATTR type FAP from SSA is important because, currently, only the former has new therapeutic options available in Japan. The present case report, therefore, highlights the necessity of careful observation for periodic electrocardiograms. PMID:28090046

  5. Chronic inflammatory demyelinating polyneuropathy.

    PubMed

    Vanasse, Michel; Rossignol, Elsa; Hadad, Elie

    2013-01-01

    Chronic inflammatory demyelinating polyneuropathy (CIDP) is characterized clinically by a progressive symmetrical weakness evolving over a period of at least 2 months. There is increased CSF protein and conduction block, reduced nerve conduction velocities, increased distal latencies, and/or absent F wave or prolonged F wave latency in two or more nerves. Incidence is lower in children (10 times less) than in adults, and the condition presents in an acute or subacute manner with frequent relapses. It is not associated with other systemic diseases such as neoplasia, diabetes mellitus, or monoclonal gammopathies. It appears to be immune-related as a variety of humoral and cellular autoimmune mechanisms have been implicated. Treatment is based on results obtained in randomized clinical trials (RCTs) conducted in adults as such studies are lacking in the pediatric population. The evolution of CIDP is more favorable in children than in adults, with 80-100% response rates to standard treatments (steroids, intravenous immunoglobulins, and/or plasmapheresis) and excellent outcome with complete functional recovery in most patients. Cases refractory to standard therapies do exist in children, for which azathioprine, methotrexate, and mycophenolate mofetil alone or more often in association with other treatments have been used. However, safety and efficacy data are still insufficient to give specific recommendations regarding the optimal choice.

  6. Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP

    PubMed Central

    Parman, Yesim; Adams, David; Obici, Laura; Galán, Lucía; Guergueltcheva, Velina; Suhr, Ole B.; Coelho, Teresa

    2016-01-01

    Purpose of review Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a highly disabling, life-threatening disease characterized by progressive sensorimotor and autonomic neuropathy. The profile of the disease across Europe is inadequately understood at present. Recent findings The incidence and clinical presentation of TTR-FAP varies widely within Europe, with early and late-onset disease subtypes. In those regions in which the disease is endemic (Portugal, Sweden, Cyprus, and Majorca), a Val30Met substitution in the TTR gene is the predominant genetic cause, whereas in the rest of Europe, cases of TTR-FAP are mainly sporadic with genetic heterogeneity. Current management strategies lack cohesion and patients can experience years of misdiagnosis and suboptimal treatment. Summary The article aims to disseminate the findings and recommendations from two recent meetings of the European Network for TTR-FAP (ATTReuNET), a panel comprising representatives from 10 European countries (Bulgaria, Cyprus, France, Germany, Italy, the Netherlands, Portugal, Spain, Sweden, and Turkey) with expertise in the diagnosis and management of TTR-FAP. We explore the epidemiology and genetic mark of TTR-FAP across Europe and assess current management strategies, with a view to developing an alternative framework – a networked approach to disease management with an emphasis on collaboration and sharing of best practice. PMID:26734951

  7. Dysautonomic polyneuropathy as a variant of chronic inflammatory "demyelinating" polyneuropathy?

    PubMed

    Wolf, Hans-Heinrich; Kornhuber, Malte Erich; Weis, Joachim; Posa, Andreas

    2016-08-01

    This report describes the clinical course over almost one decade of a male patient presenting with immune-mediated pure autonomic neuropathy resembling a distinct variant of chronic dysimmune polyneuropathies. We suppose autoantibodies directed against epitopes on autonomic axons or neurons causative for the symptoms.

  8. Chronic inflammatory demyelinating polyneuropathy.

    PubMed

    Mathey, Emily K; Pollard, John D

    2013-10-15

    Chronic inflammatory demyelinating polyneuropathy (CIDP) is the commonest treatable neuropathy in the western world. Untreated it may result in severe disability but if diagnosed and treated early there is effective treatment for the majority of patients. Typical CIDP is readily recognised but the diagnosis of other subgroups can be more challenging. The pathology of polyradiculoneuropathies such as CIDP characteristically affects the most proximal regions of the peripheral nervous system, nerve roots and major plexuses. It is important to test these regions with electrodiagnostic studies since routine neurophysiology may not encounter regions of pathology. Although accepted as an autoimmune disorder with an underlying immunopathology involving T cell and B cell responses, there is no agreement on major target antigens; however recent studies have highlighted a role for molecules in non compact myelin which play an essential role in the formation and maintenance of the nodal structures and hence in the function of ion channels central to saltatory conduction. Controlled trials have proven the efficacy of corticosteroid, intravenous immunoglobulin and plasma exchange in the short term and intravenous immunoglobulin also in the long term. Immunosuppressive agents are widely used but their efficacy has not been proven in controlled trials. Recent trials have shown the importance of attempting treatment withdrawal in patients apparently in remission to conserve treatments that are very expensive and in short supply, since a significant proportion of patients may enter long lasting remission following short term therapy. For the relatively small group of patients who do not respond to these first line therapies new agents including monoclonal antibodies may have a role.

  9. Sensorimotor polyneuropathy after hexavalent vaccination.

    PubMed

    Gorczyca, Daiva; Schwirten, Ulrike

    2014-01-01

    New vaccines in infants are generally well tolerated and serious adverse events are rare. We present a patient who developed severe sensorimotor polyneuropathy 2 weeks after the first immunization with hexavalent routine vaccine (INFANRIX hexa). Through intense physiotherapy the infant made a complete recovery.

  10. Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30

    PubMed Central

    Munar-Ques, M.; Pedrosa, J.; Coelho, T.; Gusmao, L.; Seruca, R.; Amorim, A.; Sequeiros, J.

    1999-01-01

    Twin studies are an important tool in medical genetics for the evaluation of the relative roles of genetic and non-genetic factors in several diseases. Familial amyloidotic polyneuropathy type I (FAP-I), TTR Met 30, was present in two sets of proven monozygotic (MZ) twins, one from Majorca and the other from Portugal. Monozygosity was established by analysis of DNA polymorphisms. Both pairs were discordant for age at onset and some clinical manifestations of FAP-I. We reviewed the differences in age at onset and clinical features in both sets and in two other pairs of presumed MZ twins with FAP-I and compared them with those in MZ twin pairs with other Mendelian disorders, such as neurofibromatosis type 1, Huntington's disease, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. We conclude that, in addition to the postulated modifying genes, there must be a significant contribution from non-genetic factors to the phenotypic variability of FAP-I (age at onset and clinical expression), either because of enviromental differences or stochastic events during (or after) the twinning process.


Keywords: hereditary amyloidosis; discordant MZ twins; non-genetic factors; stochastic process PMID:10465115

  11. Distal symmetrical polyneuropathy: definition for clinical research.

    PubMed

    England, J D; Gronseth, G S; Franklin, G; Miller, R G; Asbury, A K; Carter, G T; Cohen, J A; Fisher, M A; Howard, J F; Kinsella, L J; Latov, N; Lewis, R A; Low, P A; Sumner, A J

    2005-01-01

    The objective of this report was to develop a case definition of "distal symmetrical polyneuropathy" to standardize and facilitate clinical research and epidemiological studies. A formalized consensus process was employed to reach agreement after a systematic review and classification of evidence from the literature. The literature indicates that symptoms alone have relatively poor diagnostic accuracy in predicting the presence of polyneuropathy; signs are better predictors of polyneuropathy than symptoms; and single abnormalities on examination are less sensitive than multiple abnormalities in predicting the presence of polyneuropathy. The combination of neuropathic symptoms, signs, and electrodiagnostic findings provides the most accurate diagnosis of distal symmetrical polyneuropathy. A set of case definitions was rank ordered by likelihood of disease. The highest likelihood of polyneuropathy (useful for clinical trials) occurs with a combination of multiple symptoms, multiple signs, and abnormal electrodiagnostic studies. A modest likelihood of polyneuropathy (useful for field or epidemiological studies) occurs with a combination of multiple symptoms and multiple signs when the results of electrodiagnostic studies are not available. A lower likelihood of polyneuropathy occurs when electrodiagnostic studies and signs are discordant. For research purposes, the best approach for defining distal symmetrical polyneuropathy is a set of case definitions rank ordered by estimated likelihood of disease. The inclusion of this formalized case definition in clinical and epidemiological research studies will ensure greater consistency of case selection.

  12. Risk Factors For Diabetic Polyneuropathy

    PubMed Central

    KAPLAN, Yüksel; KURT, Semiha; KARAER ÜNALDI, Hatice; ERKORKMAZ, Ünal

    2014-01-01

    Introduction The aim of this study was to investigate the risk factors for distal symmetric sensory-motor polyneuropathy (DSP) in patients with type 2 diabetes mellitus (DM). Method Sixty seven patients with type 2 DM (33 males and 34 females) were included in the study. In addition to a detailed neurological examination, the Michigan Neuropathy Screening Instrument was administered to all patients and their total neuropathy scores were calculated. Nerve conduction examinations were performed for all patients. Results The mean age of the patients was 52.83±.87 years. The mean glycosylated hemoglobin (HbA1C) value was 8.56±2.07% (normal: 3–6.5%). The total neuropathy score significantly correlated with diabetes duration, hypertension, retinopathy, and HbA1C. Conclusion This study confirms the previous reports regarding the association of neuropathy with poor glycaemic control and duration of the disease. The association of neuropathy with retinopathy and hypertension is important.

  13. Organophosphate-induced delayed polyneuropathy.

    PubMed

    Lotti, Marcello; Moretto, Angelo

    2005-01-01

    Organophosphate-induced delayed polyneuropathy (OPIDP) is a rare toxicity resulting from exposure to certain organophosphorus (OP) esters. It is characterised by distal degeneration of some axons of both the peripheral and central nervous systems occurring 1-4 weeks after single or short-term exposures. Cramping muscle pain in the lower limbs, distal numbness and paraesthesiae occur, followed by progressive weakness, depression of deep tendon reflexes in the lower limbs and, in severe cases, in the upper limbs. Signs include high-stepping gait associated with bilateral foot drop and, in severe cases, quadriplegia with foot and wrist drop as well as pyramidal signs. In time, there might be significant recovery of the peripheral nerve function but, depending on the degree of pyramidal involvement, spastic ataxia may be a permanent outcome of severe OPIDP. Human and experimental data indicate that recovery is usually complete in the young. At onset, the electrophysiological changes include reduced amplitude of the compound muscle potential, increased distal latencies and normal or slightly reduced nerve conduction velocities. The progression of the disease, usually over a few days, may lead to non-excitability of the nerve with electromyographical signs of denervation. Nerve biopsies have been performed in a few cases and showed axonal degeneration with secondary demyelination. Neuropathy target esterase (NTE) is thought to be the target of OPIDP initiation. The ratio of inhibitory powers for acetylcholinesterase and NTE represents the crucial guideline for the aetiological attribution of OP-induced peripheral neuropathy. In fact, pre-marketing toxicity testing in animals selects OP insecticides with cholinergic toxicity potential much higher than that to result in OPIDP. Therefore, OPIDP may develop only after very large exposures to insecticides, causing severe cholinergic toxicity. However, this was not the case with certain triaryl phosphates that were not used as

  14. Acute clinical onset chronic inflammatory demyelinating polyneuropathy in a dog.

    PubMed

    Molín, Jéssica; Márquez, Mercedes; Raurell, Xavier; Matiasek, Kaspar; Ferrer, Isidre; Pumarola, Martí

    2011-09-01

    We report a case of acute-onset ambulatory paraparesis with electrophysiological abnormalities compatible with axonal and demyelinating lesions in a Rottweiler dog. Although the clinical findings were compatible with acute canine idiopathic polyneuropathy, postmortem investigations revealed a chronic demyelinating polyneuropathy affecting the nerve roots. Due to the combination of acute clinical presentation and chronic pathologic features, this case is consistent with the acute-onset form of chronic inflammatory demyelinating polyneuropathy (A-CIDP).

  15. [Polyneuropathy associated with monoclonal gammopathy of undetermined significance].

    PubMed

    Moth Henriksen, Marie; Kolmos, Eva Brøsted; Abildgaard, Niels; Schrøder, Henrik Daa; Sindrup, Søren

    2012-10-22

    The prevalence of polyneuropathy in patients with monoclonal gammopathy of undetermined significance (MGUS) has been reported to be 10-50%. The majority of patients have a chronic, slowly progressive, distal, symmetric and predominantly sensory polyneuropathy. A caused relationship between polyneuropathy and immunoglobulin (Ig)M MGUS is better established than the relationship between polyneuropathy and IgG/IgA MGUS because of the observed binding of IgM to myelin sheaths and widening of myelin lamellae. In randomized controlled trials plasma exchange, immunosuppressive, rituximab and intravenous Ig have been found to have a clinical meaningful effect.

  16. Antiarrhythmic drugs and polyneuropathy. The Collaborative Group for the Study of Polyneuropathy.

    PubMed Central

    1994-01-01

    A total of 151 patients on chronic treatment with amiodarone and other antiarrhythmic drugs were subjected to standard clinical and electrophysiological investigation to assess the prevalence and specificity of polyneuropathy. Twenty two untreated patients with cardiac disorders and 246 normal subjects served as controls. Abnormal electrophysiological findings supporting the diagnosis of polyneuropathy were present in 38 subjects (25%) given antiarrhythmic drugs, with even distribution among drugs, and four untreated patients (18%). Concurrent clinical abnormalities were present in five treated patients (one each with amiodarone, propafenone, and flecainide, and two with multiple drugs). Therefore, electrophysiological abnormalities are a common, although non-specific, feature in patients taking antiarrhythmic drugs. Amiodarone users do not seem at higher risk of polyneuropathy than subjects treated with other drugs or even untreated patients with cardiac disorders. PMID:8158183

  17. Diagnostic and Therapeutic Advances: Distal Symmetric Polyneuropathy

    PubMed Central

    Callaghan, Brian C.; Price, Raymond S.; Feldman, Eva L.

    2016-01-01

    Importance Peripheral neuropathy is a highly prevalent and morbid condition affecting 2–7% of the population. Patients frequently suffer from pain and are at risk of falls, ulcerations, and amputations. We aimed to review recent diagnostic and therapeutic advances in peripheral neuropathy in distal symmetric polyneuropathy, the most common subtype of peripheral neuropathy. Observations and Advances Current evidence supports limited routine laboratory testing in patients with distal symmetric polyneuropathy. Patients without a known cause should have a complete blood count, comprehensive metabolic panel, B12, serum protein electrophoresis with immunofixation, fasting glucose, and a glucose tolerance test. The presence of atypical features such as asymmetry, non-length-dependence, motor predominance, acute or subacute onset, and/or prominent autonomic involvement should prompt a consultation with a neurologist or neuromuscular specialist. Electrodiagnostic tests and magnetic resonance imaging of the neuroaxis are the main drivers of the cost of the diagnostic evaluation, but evidence supporting their use is lacking. Strong evidence supports the use of tricyclic antidepressants, serotonin and norepinephrine reuptake inhibitors, and voltage-gated calcium channel ligands in the treatment of neuropathic pain. More intensive glucose control substantially reduces the incidence of distal symmetric polyneuropathy in patients with type 1 diabetes, but does not in type 2 diabetes. Conclusions and Relevance The opportunity exists to improve guideline concordant testing in distal symmetric polyneuropathy patients. Moreover, the role of electrodiagnostic tests needs to be further defined, and interventions to reduce magnetic resonance imaging use in this population are needed. Even though several efficacious medications exist for neuropathic pain treatment, pain is still under-recognized and undertreated. New disease modifying medications are needed to prevent and treat

  18. Early identification of 'acute-onset' chronic inflammatory demyelinating polyneuropathy.

    PubMed

    Sung, Jia-Ying; Tani, Jowy; Park, Susanna B; Kiernan, Matthew C; Lin, Cindy Shin-Yi

    2014-08-01

    Distinguishing patients with acute-onset chronic inflammatory demyelinating polyneuropathy from acute inflammatory demyelinating polyneuropathy prior to relapse is often challenging at the onset of their clinical presentation. In the present study, nerve excitability tests were used in conjunction with the clinical phenotype and disease staging, to differentiate between patients with acute-onset chronic inflammatory demyelinating polyneuropathy and patients with acute inflammatory demyelinating polyneuropathy at an early stage, with the aim to better guide treatment. Clinical assessment, staging and nerve excitability tests were undertaken on patients initially fulfilling the diagnostic criteria of acute inflammatory demyelinating polyneuropathy soon after symptom onset and their initial presentation. Patients were subsequently followed up for minimum of 12 months to determine if their clinical presentations were more consistent with acute-onset chronic inflammatory demyelinating polyneuropathy. Clinical severity as evaluated by Medical Research Council sum score and Hughes functional grading scale were not significantly different between the two cohorts. There was no difference between the time of onset of initial symptoms and nerve excitability test assessment between the two cohorts nor were there significant differences in conventional nerve conduction study parameters. However, nerve excitability test profiles obtained from patients with acute inflammatory demyelinating polyneuropathy demonstrated abnormalities in the recovery cycle of excitability, including significantly reduced superexcitability (P < 0.001) and prolonged relative refractory period (P < 0.01), without changes in threshold electrotonus. In contrast, in patients with acute-onset chronic inflammatory demyelinating polyneuropathy, a different pattern occurred with the recovery cycle shifted downward (increased superexcitability, P < 0.05; decreased subexcitability, P < 0.05) and increased

  19. Critical illness polyneuropathy and myopathy: a systematic review.

    PubMed

    Zhou, Chunkui; Wu, Limin; Ni, Fengming; Ji, Wei; Wu, Jiang; Zhang, Hongliang

    2014-01-01

    Critical illness polyneuropathy and critical illness myopathy are frequent complications of severe illness that involve sensorimotor axons and skeletal muscles, respectively. Clinically, they manifest as limb and respiratory muscle weakness. Critical illness polyneuropathy/myopathy in isolation or combination increases intensive care unit morbidity via the inability or difficulty in weaning these patients off mechanical ventilation. Many patients continue to suffer from decreased exercise capacity and compromised quality of life for months to years after the acute event. Substantial progress has been made lately in the understanding of the pathophysiology of critical illness polyneuropathy and myopathy. Clinical and ancillary test results should be carefully interpreted to differentiate critical illness polyneuropathy/myopathy from similar weaknesses in this patient population. The present review is aimed at providing the latest knowledge concerning the pathophysiology of critical illness polyneuropathy/myopathy along with relevant clinical, diagnostic, differentiating, and treatment information for this debilitating neurological disease.

  20. Update on the management of diabetic polyneuropathies

    PubMed Central

    Shakher, Jayadave; Stevens, Martin J

    2011-01-01

    The prevalence of diabetic polyneuropathy (DPN) can approach 50% in subjects with longer-duration diabetes. The most common neuropathies are generalized symmetrical chronic sensorimotor polyneuropathy and autonomic neuropathy. It is important to recognize that 50% of subjects with DPN may have no symptoms and only careful clinical examination may reveal the diagnosis. DPN, especially painful diabetic peripheral neuropathy, is associated with poor quality of life. Although there is a better understanding of the pathophysiology of DPN and the mechanisms of pain, treatment remains challenging and is limited by variable efficacy and side effects of therapies. Intensification of glycemic control remains the cornerstone for the prevention or delay of DPN but optimization of other traditional cardiovascular risk factors may also be of benefit. The management of DPN relies on its early recognition and needs to be individually based on comorbidities and tolerability to medications. To date, most pharmacological strategies focus upon symptom control. In the management of pain, tricyclic antidepressants, selective serotonin noradrenaline reuptake inhibitors, and anticonvulsants alone or in combination are current first-line therapies followed by use of opiates. Topical agents may offer symptomatic relief in some patients. Disease-modifying agents are still in development and to date, antioxidant α-lipoic acid has shown the most promising effect. Further development and testing of therapies based upon improved understanding of the complex pathophysiology of this common and disabling complication is urgently required. PMID:21887102

  1. My legs are getting old: sinvastatin-induced polyneuropathy

    PubMed Central

    Camargos, Einstein Francisco; de Freitas Oliveira, Larissa; Boaventura, Thaís de Deus Vieira

    2011-01-01

    Axonal degeneration is the most common type of neuropathy induced by medication. The literature describes isolated cases in which polyneuropathy of the lower limb was observed during treatment with statins. The authors present a case of polyneuropathy associated with the use of a statin. An 82-year-old female patient presented with a complaint of weakness and discomfort in her lower limbs after 7 years of therapy with simvastatin. The results of an electromyographic study were compatible with polyneuropathy (sensorimotor axonal neuropathy – moderate to severe). One month after the therapy with simvastatin was discontinued, the symptoms were reduced. PMID:22707627

  2. [Pathogenesis of chronic inflammatory demyelinating polyneuropathy].

    PubMed

    Aranami, Toshimasa; Yamamura, Takashi

    2013-05-01

    Chronic inflammatory demyelinating polyneuropathy (CIDP) is considered to be a demyelinating autoimmune disorder in the peripheral nervous system. Concerning cellular immune response, activity of IFN-gamma producing Th1 and IL-17 producing Th17 cells might be accelerated in patients with CIDP, while regulatory function of CD4+ CD25(high) Foxp3+ regulatory T cells might be diminished. Humoral immune responses against several myelin components such as myelin protein zero and gangliosides such as GM1 might be also induced in a part of patients with CIDP. Besides, growing body of evidences suggest that immune response against several molecules expressed in the noncompact myelin might be involved in the pathogenesis of CIDP.

  3. Hereditary Amyloidosis with Recurrent Lung Infiltrates

    PubMed Central

    Revelo, Alberto E.; Magaspi, Crischelle; Maguire, George; Aronow, Wilbert S.

    2016-01-01

    Patient: Male, 51 Final Diagnosis: Familial amyloidotic polyneuropathy with lung involvement Symptoms: Cough • dyspnea • lethargy Medication: Diflunisal Clinical Procedure: Fiberoptic bronchoscopy with trans-bronchial biopsy Specialty: Pulmonary Medicine Objective: Rare co-existance of disease or patholog Background: Amyloidosis is a protein conformational disorder characterized by extracellular deposition of amyloid fibrils in extracellular tissue. Lung involvement is most commonly caused by secondary AL amyloidosis. The familial autosomal-dominant senile transthyretin (ATTR) disease manifests mainly as polyneuropathy and restrictive cardiomyopathy denoting the name familial amyloidotic polyneuropathy (FAP). Rarely, this form manifests with clinical and radiologically relevant respiratory tract symptoms and lung involvement. Case Report: A 51-year-old male former smoker presented with progressive lower-extremity weakness of several months’ duration. He was ultimately diagnosed with chronic demyelinating polyneuropathy and treated with intravenous immunoglobulin therapy. Subsequently, he was admitted with heart failure symptoms and pulmonary infiltrates and his echocardiogram showed a ‘myocardial speckled pattern’, prompting an endomyocardial biopsy, which showed transthyretin amyloid deposition. He was started on diflunisal. Additionally, serial radiographic imaging of his chest over 3 different admissions for cough, dyspnea, hypoxemia, and lethargy demonstrated recurrent pulmonary infiltrates. A fiberoptic bronchoscopy with trans-bronchial biopsies revealed amyloid deposition in the lung tissue. Conclusions: The clinical presentation of recurrent or persistent pulmonary symptoms and fleeting infiltrates on imaging in a patient with familial amyloidotic polyneuropathy is not common; when present, it should raise the suspicion of respiratory tract involvement. PMID:27872470

  4. [Multifocal polyneuropathy with persistent conduction blockage. A new subset of chronic inflammatory polyneuropathies].

    PubMed

    Alvarez Vadillo, E; Ferrer Gila, M T; Amer Ferrer, G; Anciones Rodríguez, B; Pérez Conde, M C; Gutiérrez Molina, M; Cruz Martínez, A

    1989-09-09

    Recently a subset of chronic demyelinating inflammatory polyneuropathies with asymmetrical involvement limited to upper limbs, at least at the onset, resembling a multifocal mononeuropathy has been described. Electrodiagnostic testing disclosed multifocal CB outside the common entrapment sites has been described. We report a 55 years old man with a 4 years history of paresis, numbness, fasciculations, myokymia, cramps and mild amyotrophy. Electrophysiological evaluation showed proximal multifocal conduction block and abundant spontaneous activity as fasciculations, myokymia and scarce denervation activity. The importance of taking into account this entity in the differential diagnosis of patients with suspected mononeuritis multiplex or motoneuron disease is emphasized. The nosologic place of this entity is also discussed.

  5. Assessment of Diabetic Polyneuropathy and Plantar Pressure in Patients with Diabetes Mellitus in Prevention of Diabetic Foot

    PubMed Central

    Skopljak, Amira; Sukalo, Aziz; Batic-Mujanovic, Olivera; Muftic, Mirsad; Tiric-Campara, Merita; Zunic, Lejla

    2014-01-01

    Introduction: Risk assessment for development foot ulcer in diabetics is a key aspect in any plan and program for prevention of non-traumatic amputation of lower extremities. Material and methods: In the prospective research to assessed diabetic neuropathy in diabetic patients, to determined the dynamic function of the foot (plantar pressure), by using pedobarography (Group I), and after the use of orthopedic insoles with help of pedobarography, to determined the connection between the risk factors: deformity of the foot, limited joint movements, diabetic polyneuropathy, plantar pressure in effort preventing changes in the diabetic foot. Results: Out of 1806 patients, who are registered in one Team of family medicine examined 100 patients with diabetes mellitus Type 2. The average age of subjects was 59.4, SD11.38. The average HbA1c was 7.78% SD1.58. Combining monofilament and tuning fork tests, the diagnosis of polyneuropathy have 65% of patients. Comparing Test Symptom Score individual parameters between the first and second measurement, using pedobarography, in Group I, statistically significant difference was found for all of the assessed parameters: pain, burning sensation, paresthesia and insensitivity (p<0,05). The measurements of peak pressure, both first and the second measurement, for all of the subjects in Group I(45) show values above 200kPa. That’s a level of pressure that needs to be corrected. The study finds correlation between the foot deformation, diabetic polyneuropathy and plantar pressure (p>0,05). Conclusion: A detail clinical exam of diabetic food in a family doctor office equipped with pedobarography (plantar pressure measurements), use of orthopedic insoles, significantly reduces clinical symptoms of diabetic polyneuropathy in patients with diabetes. PMID:25650237

  6. Analysis of gene expression in white blood cells of cattle orally challenged with bovine amyloidotic spongiform encephalopathy.

    PubMed

    Panelli, Simona; Strozzi, Francesco; Capoferri, Rossana; Barbieri, Ilaria; Martinelli, Nicola; Capucci, Lorenzo; Lombardi, Guerino; Williams, John L

    2011-01-01

    Bovine amyloidotic spongiform encephalopathy (BASE) is one of the recently discovered atypical forms of BSE, which is transmissible to primates, and may be the bovine equivalent of sporadic Creutzfeldt-Jacob disease (CJD) in humans. Although it is transmissible, it is unknown whether BASE is acquired through infection or arises spontaneously. In the present study, the gene expression of white blood cells (WBCs) from 5 cattle at 1 yr after oral BASE challenge was compared with negative controls using a custom microarray containing 43,768 unique gene probes. In total, 56 genes were found to be differentially expressed between BASE and control animals with a log fold change of 2 or greater. Of these, 39 were upregulated in BASE animals, while 17 were downregulated. The majority of these genes are related to immune function. In particular, BASE animals appeared to have significantly modified expression of genes linked to T- and B-cell development and activation, and to inflammatory responses. The potential impacts of these gene expression changes are described.

  7. Treatment of chronic inflammatory demyelinating polyneuropathy.

    PubMed

    Kleyman, Inna; Brannagan, Thomas H

    2015-07-01

    Chronic inflammatory demyelinating polyneuropathy (CIDP) is one of the acquired demyelinating neuropathies and is considered to be immune mediated. Diagnosis is typically based on clinical history, neurologic examination, electrophysiologic studies, CSF studies, and pathologic examination. Early diagnosis and treatment is important to prevent irreversible axonal loss and optimize improvement in function. The first-line agents for treatment are intravenous immunoglobulin (IVIg), corticosteroids, and plasmapheresis, which have all been demonstrated to be effective in controlled studies. Studies have not shown a significant difference between these three treatments, and the initial choice of therapy is often based on availability, cost, ease of administration, and side effect profile. If patients do not respond to one of these agents, they may respond to one of the others and sometimes in combination. If the first-line agents are not effective, chemotherapeutic or immunosuppressive agents may be considered. There are limited controlled studies of these modalities, and they are often used in conjunction with a first-line treatment. The majority of patients require long-term therapy to maintain a response and to prevent relapse.

  8. Treatment of diabetic polyneuropathy: Update 2006.

    PubMed

    Ziegler, Dan

    2006-11-01

    At least one of four diabetic patients is affected by distal symmetric polyneuropathy (DSP), which represents a major health problem, as it may present with partly excruciating neuropathic pain and is responsible for substantial morbidity, increased mortality, and impaired quality of life. Treatment is based on four cornerstones: (a) causal treatment aimed at (near)-normoglycemia, (b) treatment based on pathogenetic mechanisms, (c) symptomatic treatment, and (d) avoidance of risk factors and complications. Recent experimental studies suggest a multifactorial pathogenesis of diabetic neuropathy. From the clinical point of view it is important to note that, on the basis of these pathogenetic mechanisms, therapeutic approaches could be derived, some of which are currently being evaluated in clinical trials. Among these agents only alpha-lipoic acid is available for treatment in several countries and epalrestat in Japan. Although several novel analgesic drugs, such as duloxetine and pregabalin, have recently been introduced into clinical practice, the pharmacological treatment of chronic painful diabetic neuropathy remains a challenge for the physician. Individual tolerability remains a major aspect in any treatment decision. Epidemiological data indicate that not only increased alcohol consumption but also the traditional cardiovascular risk factors, such as hypertension, smoking, and visceral obesity, play a role in development and progression of diabetic neuropathy and, hence, need to be prevented or treated.

  9. Epidemiology of polyneuropathy in diabetes and prediabetes.

    PubMed

    Ziegler, Dan; Papanas, Nikolaos; Vinik, Aaron I; Shaw, Jonathan E

    2014-01-01

    Diabetic distal symmetric sensorimotor polyneuropathy (DSPN) represents a major health problem, associated with excruciating neuropathic pain, increased morbidity and impaired quality of life. The understanding of its epidemiology is difficult due to methodological issues. Inconsistency in the selection of diagnostic procedures renders comparison between studies problematic. Further problems arise from selection bias due to the inclusion of hospital-based populations. DSPN affects approximately 30% of hospital-based populations, 20% of community-based samples, and 10% of the diabetic population identified by screening. Chronic painful DSPN is present in 13-26% of diabetic patients. Between 25% and 62% of patients with idiopathic peripheral neuropathy have prediabetes. Among pre-diabetic subjects, 11-25% exhibit peripheral neuropathy and 13-26% neuropathic pain. Evidence from population-based studies indicates that there is a gradient in the prevalence of neuropathy. Indeed, the highest frequency is found in patients with manifest diabetes mellitus, followed by individuals with impaired glucose tolerance, then impaired fasting glucose and, finally, those with normoglycemia. The most important etiologic factors are poor glycemic control, age, diabetes duration, visceral obesity, height, hypertension, age, smoking, hypoinsulinemia, and dyslipidemia. Clinic-based data suggest that DSPN is associated with increased mortality in diabetes, but confirmatory prospective population-based studies are required.

  10. Chronic inflammatory demyelinating polyneuropathy in common variable immunodeficiency.

    PubMed

    Özdemir, Özlem; Okan, Mehmet S; Kilic, Sara S

    2012-04-01

    Common variable immunodeficiency comprises a heterogeneous group of primary antibody deficiencies with complex clinical and immunologic phenotypes. Immune dysregulation leads to the generation of multiple autoantibodies against various antigenic targets in patients with common variable immunodeficiency. Chronic inflammatory demyelinating polyneuropathy is a heterogeneous disorder that indicates an autoimmune response against peripheral nerve myelin. We describe a 7-year-old girl with common variable immunodeficiency who developed chronic inflammatory polyneuropathy. A 5-day course of intravenous immunoglobulin (500 mg/kg/day) improved her neurologic disorder. Chronic inflammatory demyelinating polyneuropathy should be added to the broadening spectrum of neurologic complications in common variable immunodeficiency. Early detection and consequent treatment may reverse the neurologic sequelae.

  11. The treatment of inflammatory polyneuropathy by plasma exchange.

    PubMed Central

    Gross, M L; Legg, N J; Lockwood, M C; Pallis, C

    1982-01-01

    Observations are reported on six patients with inflammatory polyneuropathy who were treated by plasma exchange. In four cases the polyneuropathy was acute and in two it was chronic or relapsing. Two acute cases and one chronic relapsing case had plasma exchange during a rapidly progressive phase of the disease, and showed a prompt and substantial recovery of function. The other three patients were exchanged when disease activity had reached a plateau. Only minor degrees of improvement were seen in two of these cases. One patient showed an initial mild deterioration before subsequent recovery. There were no significant side effects. These findings are discussed in relation to the pathogenesis and clinical management of inflammatory polyneuropathy. PMID:7130991

  12. Detection of Diphtheritic Polyneuropathy by Acute Flaccid Paralysis Surveillance, India

    PubMed Central

    Bahl, Sunil; Khera, Ajay; Sutter, Roland W.

    2013-01-01

    Diphtheritic polyneuropathy is a vaccine-preventable illness caused by exotoxin-producing strains of Corynebacterium diphtheriae. We present a retrospective convenience case series of 15 children (6 girls) <15 years of age (mean age 5.2 years, case-fatality rate 53%, and 1 additional case-patient who was ventilator dependent at the time of last follow-up; median follow-up period 60 days) with signs and symptoms suggestive of diphtheritic polyneuropathy. All cases were identified through national acute flaccid paralysis surveillance, which was designed to detect poliomyelitis in India during 2002–2008. We also report data on detection of diphtheritic polyneuropathy compared with other causes of acute flaccid paralysis identified by this surveillance system. PMID:23965520

  13. Multiple myeloma with associated polyneuropathy in a German shepherd dog.

    PubMed

    Villiers, E; Dobson, J

    1998-05-01

    A 12-year-old female, neutered German shepherd dog developed progressive hindlimb followed by forelimb ataxia leading to tetraplegia. Neurological examination suggested lower motor dysfunction. Biochemical evaluation revealed a monoclonal hypergammaglobulinaemia, hypoalbuminaemia and hypercalcaemia. Multiple lytic lesions were identified radiographically in numerous bones. A bone marrow aspirate confirmed the diagnosis of multiple myeloma, with large numbers of plasma cells seen in clusters. An electromyogram revealed positive sharp waves and fibrillation potentials in the skeletal muscles of the limbs, suggesting a polyneuropathy. The dog was treated with chemotherapy using melphalan and prednisolone. Both the hypergammaglobulinaemia and the polyneuropathy resolved and the dog had normal motor function four weeks after commencing treatment. Polyneuropathy may occur as a paraneoplastic syndrome secondary to myeloma, and in this case was reversible following treatment of the underlying disease.

  14. Concomitant Acute Transverse Myelitis and Sensory Motor Axonal Polyneuropathy in Two Children: Two Case Reports

    PubMed Central

    Chung, Hyung; Joa, Kyung-Lim; Kim, Hyo-Sang; Kim, Chang-Hwan; Jung, Han-Young

    2015-01-01

    Acute transverse myelitis (ATM) is an upper motor neuron disease of the spinal cord, and concomitant association of peripheral polyneuropathy, particularly the axonal type, is rarely reported in children. Our cases presented with ATM complicated with axonal type polyneuropathy. Axonal type polyneuropathy may be caused by acute motor-sensory axonal neuropathy (AMSAN) or critical illness polyneuropathy and myopathy (CIPNM). These cases emphasize the need for nerve and muscle biopsies to make the differential diagnosis between AMSAN and CIPNM in patients with ATM complicated with axonal polyneuropathy. PMID:25750885

  15. Ocular Neuromyotonia Associated with Chronic Inflammatory Demyelinating Polyneuropathy.

    PubMed

    Kung, Nathan H; Bucelli, Robert C; McClelland, Collin M; Van Stavern, Gregory P

    2015-10-01

    Ocular neuromyotonia (ONM) is a neuro-ophthalmic disorder characterized by episodic diplopia caused by contraction of one or more ocular muscles due to spontaneous excitation of the respective ocular motor nerve. We report a patient whose ocular neuromyotonia arose in the setting of a subacute demyelinating polyneuropathy consistent with chronic inflammatory demyelinating polyneuropathy (CIDP) and subsequently resolved following the initiation of intravenous immunoglobulin (IVIg) for her neuropathy. Our patient provides additional evidence towards the role of demyelination and ephaptic neurotransmission in ocular neuromyotonia and also represents the first reported case of ocular neuromyotonia associated with a systemic neurological condition.

  16. Motor variant of chronic inflammatory demyelinating polyneuropathy in a child.

    PubMed

    Sinno, Durriyah D; Darras, Basil T; Yamout, Bassem I; Rebeiz, Jean G; Mikati, Mohamad A

    2008-06-01

    Only 2 cases of pure motor chronic demyelinating inflammatory polyneuropathy in the pediatric age group have been reported in the literature. We report on a motor variant of chronic demyelinating inflammatory polyneuropathy with anti-ganglioside antibodies, diagnosed in a 5-year-old girl who presented with progressive motor weakness over a period of 12 months with no sensory involvement. She initially responded partially to intravenous immunoglobulin therapy (1 gm/kg/month for 6 months), and then demonstrated sustained but incomplete improvement on chronic prednisone therapy (1-2 mg/kg/day), on which she has continued since 1 year and 4 months after her initial presentation 3 years ago.

  17. [Demyelinating polyneuropathies in patients with diabetes mellitus and chronic alcoholic intoxication].

    PubMed

    Kovrazhkina, E A

    2012-01-01

    Frequency and nosological attribution of demyelinating polyneuropathies in patients with diabetes mellitus and alcoholism were determined. Eighty-six inpatients with alcoholic (n=46) and diabetic (n=40) polyneuropathy were examined clinically and using electroneuromyography (ENMG). A demyelinating pathogenetic variant was identified by clinical and ENMG data in 27 (31%) patients. Nine patients (33%) had dysimmune polyneuropathies (acute and chronic inflammatory demyelinating polyneuropathy). Polyneuropathies were specified as toxic/metabolic with the prevalence of a demyelinating component within the main disease in 18 (67%) patients. Clinical and ENMG-signs of the demyelinating variant of alcoholic and diabetic neuropathy are presented. The efficacy of the antioxidant berlition was shown for toxic/metabolic polyneuropathies while the addition of immune modulators was needed for treatment of dysimmune polyneuropathy.

  18. Clinical and electrophysiological parameters distinguishing acute-onset chronic inflammatory demyelinating polyneuropathy from acute inflammatory demyelinating polyneuropathy.

    PubMed

    Dionne, Annie; Nicolle, Michael W; Hahn, Angelika F

    2010-02-01

    Up to 16% of chronic inflammatory demyelinating polyneuropathy (CIDP) patients may present acutely. We performed a retrospective chart review on 30 acute inflammatory demyelinating polyneuropathy (AIDP) and 15 acute-onset CIDP (A-CIDP) patients looking for any clinical or electrophysiological parameters that might differentiate AIDP from acutely presenting CIDP. A-CIDP patients were significantly more likely to have prominent sensory signs. They were significantly less likely to have autonomic nervous system involvement, facial weakness, a preceding infectious illness, or need for mechanical ventilation. With regard to electrophysiological features, neither sural-sparing pattern, sensory ratio >1, nor the presence of A-waves was different between the two groups. This study suggests that patients presenting acutely with a demyelinating polyneuropathy and the aforementioned clinical features should be closely monitored as they may be more likely to have CIDP at follow-up.

  19. Conduction Slowing in Diabetic Sensorimotor Polyneuropathy

    PubMed Central

    Dunnigan, Samantha K.; Ebadi, Hamid; Breiner, Ari; Katzberg, Hans D.; Lovblom, Leif E.; Perkins, Bruce A.; Bril, Vera

    2013-01-01

    OBJECTIVE Mild demyelination may contribute more to the pathophysiology of nerve fiber injury in diabetic sensorimotor polyneuropathy (DSP) than previously thought. We investigated the clinical and electrodiagnostic classifications of nerve injury in diabetic patients to detect evidence of conduction slowing in DSP. RESEARCH DESIGN AND METHODS Type 1 diabetic subjects (n = 62) and type 2 diabetic subjects (n = 111) with a broad spectrum of DSP underwent clinical examination and nerve conduction studies (NCS). Patients were classified as having axonal (group A), conduction slowing (group D), or combined (group C) DSP based on electrodiagnostic criteria. Patients with chronic immune-mediated neuropathies were not included. The groups were compared using ANOVA, contingency tables, and Kruskal-Wallis analyses. RESULTS Of the 173 type 1 and type 2 diabetic subjects with a mean age of 59.1 ± 13.6 years and hemoglobin A1c (HbA1c) of 8.0 ± 1.8% (64 ± 19.7 mmol/mol), 46% were in group A, 32% were in group D, and 22% were in group C. The severity of DSP increased across groups A, D, and C, respectively, based on clinical and NCS parameters. The mean HbA1c for group D subjects (8.9 ± 2.3% [74 ± 25.1 mmol/mol]) was higher than for group A and group C subjects (7.7 ± 1.4% [61 ± 15.3 mmol/mol] and 7.5 ± 1.3% [58 ± 14.2 mmol/mol]; P = 0.003), and this difference was observed in those with type 1 diabetes. CONCLUSIONS The presence of conduction slowing in patients with suboptimally controlled type 1 diabetes indicates the possibility that this stage of DSP may be amenable to intervention via improved glycemic control. PMID:24026550

  20. Polyneuropathy induced by m-tolyl methyl carbamate intoxication.

    PubMed

    Umehara, F; Izumo, S; Arimura, K; Osame, M

    1991-02-01

    A 55-year-old woman who attempted suicide by ingesting 200 ml of m-tolyl methyl carbamate (MTMC) is reported. She was comatose for 3 days and, upon recovery, had notable paraesthesia in her lower limbs and difficulty in walking. Neurological examination revealed sensorimotor polyneuropathy. Sural nerve biopsy revealed marked axonal degeneration with a moderate decrease of myelinated fibres.

  1. Association Between Overactive Bladder and Polyneuropathy in Diabetic Patients

    PubMed Central

    2016-01-01

    Purpose Diabetes mellitus (DM) is a chronic metabolic disorder that often leads to complications. We aimed to correlate two complications of DM, polyneuropathy and hyperactive bladder syndrome, using noninvasive measures, such as screening tests. Methods We included 80 female and 40 male type 2 diabetic patients in this prospective study. Diabetic polyneuropathy evaluations were conducted using the Douleur Neuropathique 4 Questions (DN4), and overactive bladder (OAB) evaluations were performed using the Overactive Bladder Questionnaire (OAB-V8). The patients were also evaluated for retinopathy and nephropathy. The diabetic male and female patients with or without OAB were chosen and compared for microvascular complications (polyneuropathy, retinopathy, and nephropathy). Results There were no significant correlations between OAB and retinopathy as well as between OAB and nephropathy among diabetic patients (female patients, P>0.05; male patients, P>0.05). However, the patients with OAB were significantly more likely to develop polyneuropathy (female patients, P<0.05; male patients, P<0.05). Conclusions In diabetic patients, OAB and diabetic peripheral neuropathy are significantly correlated. These correlations were demonstrated using short, understandable, valid, and reliable disease-specific tests without invasive measures. Using these screening tests, both neurologists and urologists can easily diagnose these complications. PMID:27706007

  2. The sensitivity and specificity of the neurological examination in polyneuropathy patients with clinical and electrophysiological correlations

    PubMed Central

    Alabdali, Majed; Alsulaiman, Abdulla; Albulaihe, Hana; Breiner, Ari; Katzberg, Hans D.; Aljaafari, Danah; Lovblom, Leif E.; Bril, Vera

    2017-01-01

    Introduction Polyneuropathy is one of the most prevalent neurologic disorders. Although several studies explored the role of the neurological examination in polyneuropathy, they were mostly restricted to specific subgroups of patients and have not correlated examination findings with symptoms and electrophysiological results. Objectives To explore the sensitivity and specificity of different neurological examination components in patients with diverse etiologies for polyneuropathy, find the most sensitive combination of examination components for polyneuropathy detection, and correlate examination findings with symptoms and electrophysiological results. Methods Patients with polyneuropathy attending the neuromuscular clinic from 01/2013 to 09/2015 were evaluated. Inclusion criteria included symptomatic polyneuropathy, which was confirmed by electrophysiological studies. 47 subjects with no symptoms or electrophysiological findings suggestive for polyneuropathy, served as controls. Results The total cohort included 312 polyneuropathy patients, with a mean age of 60±14 years. Abnormal examination was found in 95%, most commonly sensory findings (86%). The most common abnormal examination components were impaired ankle reflexes (74%), vibration (73%), and pinprick (72%) sensation. Combining ankle reflex examination with vibration or pinprick perception had the highest sensitivity, of 88%. The specificities of individual examination component were generally high, excluding ankle reflexes (62%), and vibration perception (77%). Abnormal examination findings were correlated with symptomatic weakness and worse electrophysiological parameters. Conclusion The neurological examination is a valid, sensitive and specific tool for diagnosing polyneuropathy, and findings correlate with polyneuropathy severity. Ankle reflex examination combined with either vibration or pinprick sensory testing is the most sensitive combination for diagnosing polyneuropathy, and should be

  3. Peripheral nerve proteins as potential autoantigens in acute and chronic inflammatory demyelinating polyneuropathies.

    PubMed

    Lim, Jia Pei; Devaux, Jérôme; Yuki, Nobuhiro

    2014-10-01

    Guillain-Barré syndrome is classified into acute inflammatory demyelinating polyneuropathy and acute motor axonal neuropathy. Whereas autoantibodies to GM1 or GD1a induce the development of acute motor axonal neuropathy, pathogenic autoantibodies have yet to be identified in acute inflammatory demyelinating polyneuropathy and chronic inflammatory demyelinating polyneuropathy. This review highlights the importance of autoantibodies to peripheral nerve proteins in the physiopathology of acute and chronic inflammatory demyelinating polyneuropathies. Moreover, we listed up other potential antigens, which may become helpful biomarkers for acquired, dysimmune demyelinating neuropathies based on their critical functions during myelination and their implications in hereditary demyelinating neuropathies.

  4. Chronic inflammatory demyelinating polyneuropathy associated with primary biliary cirrhosis.

    PubMed

    Murata, Ken-ya; Ishiguchi, Hiroshi; Ando, Ryuki; Miwa, Hideto; Kondo, Tomoyoshi

    2013-12-01

    We report a patient with chronic inflammatory demyelinating polyneuropathy associated with primary biliary cirrhosis (PBC). Except for minimal biochemical abnormalities, clinical symptoms of PBC were not observed, and we diagnosed our patient with asymptomatic PBC from the results of a liver biopsy. Although the patient noticed little muscle weakness, an electrophysiological study demonstrated slow conduction velocities and prolonged distal latencies, with definite conduction blocks in the median, ulnar, and tibial nerves. The disturbed sensory pattern was asymmetrical, and sensory nerve action potentials were not evoked. From these observations, we diagnosed this patient with chronic inflammatory demyelinating polyneuropathy. Neuropathy associated with PBC is very rare. We must differentiate demyelinating neuropathy with PBC in patients with asymmetrical sensory dominant neuropathy with high immunoglobulin M titers, and investigate for the presence of anti-mitochondrial antibodies to rule out a complication of asymptomatic PBC.

  5. Fibrillary glomerulonephritis combined with chronic inflammatory demyelinating polyneuropathy

    PubMed Central

    Sung, Woo Kyung; Jeong, Jin Uk; Bang, Ki Tae; Shin, Jong Ho; Yoo, Ji Hyung; Kim, Nak Min; Park, Jun Hyung; Kim, Joo Heon

    2015-01-01

    A 58-yr-old man presented with leg edema and subacute weakness of his bilateral lower extremities. Urinary and serum immunoelectrophoresis revealed the presence of lambda-type Bence Jones proteins. He was ultimately diagnosed with monoclonal gammopathy of undetermined significance (MGUS). A renal biopsy specimen showed fibrillary glomerulonephritis (FGN), which was randomly arranged as 12–20 m nonbranching fibrils in the basement membranes. Immunofluorescence studies were negative for immunoglobulin (Ig)G, IgM, IgA, C3, and kappa light chains in the capillary walls and mesangial areas. A Congo red stain for amyloid was negative. Electromyography and nerve conduction velocity examinations results were compatible with the presence of demyelinating polyneuropathy. This case showed a rare combination of FGN, without Ig deposition, and MGUS combined with chronic inflammatory demyelinating polyneuropathy (CIDP). PMID:26484033

  6. Thermal threshold determination in alcoholic polyneuropathy: an improvement of diagnosis.

    PubMed

    Hilz, M J; Zimmermann, P; Claus, D; Neundörfer, B

    1995-05-01

    Reports on the incidence of alcoholic polyneuropathies are variable depending on diagnostic tools. In this study, 50 chronic alcoholics with positive MALT (Munich Alcoholism Test) and greater than seven years history of excessive alcohol abuse were examined neurologically. Tibial and peroneal motor and sural nerve conduction velocities (NCV) were studied. Warm and cold perception was evaluated in the area behind the internal malleolus using a Somedic-Thermotest. Thresholds were determined by the method of limits. The effect of a slow, medium and fast temperature change rate on thermal perception was tested. Thirty-eight patients (76%) showed signs of neuropathy. Thermal perception was more often abnormal (62%) than NCV (42%) and clinical examination (56%). A medium temperature change rate of 2.0-2.5 degrees C/s was the most sensitive index of small fiber neuropathy. Thermal threshold measurement proved to be a reliable, sensitive and easy to perform method that should become standard in the examination of polyneuropathies.

  7. Electrophysiological features of POEMS syndrome and chronic inflammatory demyelinating polyneuropathy.

    PubMed

    Guo, Xiuming; Qin, Xinyue; Zhang, Yuping; Huang, Cheng; Yu, Gang

    2014-04-01

    Polyneuropathy is often an initial manifestation of polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes (POEMS) syndrome and therefore this disorder is frequently misdiagnosed as chronic inflammatory demyelinating polyneuropathy (CIDP). We reviewed electrophysiological data in 20 patients with POEMS syndrome and 36 matched patients with CIDP to compare the electrophysiological features of POEMS syndrome and CIDP. Compared with CIDP controls, POEMS patients demonstrated (1) less prolonged distal motor latency and less reduced motor nerve and sensory nerve conduction velocities, (2) greater reduction of amplitudes of compound motor action potentials (CMAP) in distal stimulation, and similar reduction of amplitudes of CMAP in proximal stimulation, (3) similar reduction of amplitudes of sensory nerve action potentials (SNAP) in median and ulnar nerves, and a greater reduction of amplitudes of SNAP in tibial and peroneal nerves, (4) less temporal dispersion, (5) less frequent conduction block, (6) more frequent neurogenic injury in the muscles of the upper and lower limbs, and more frequent neurogenic injury in the muscles of the lower than upper limbs, (7) similar F wave and H reflex abnormalities, and (8) less frequent skin sympathetic response abnormalities. We concluded that before development of typical clinical manifestations, POEMS neuropathy can be distinguished from CIDP by neural electrophysiological examination. These electrophysiological features can be used for early diagnosis and initiating correct treatment of POEMS syndrome.

  8. Childhood chronic inflammatory demyelinating polyneuropathy with nonuniform pathologic features.

    PubMed

    Luan, Xinghua; Zheng, Riliang; Chen, Bin; Yuan, Yun

    2010-08-01

    Nonuniform pathologic changes in chronic inflammatory demyelinating polyneuropathy were previously reported only in adult humans. We analyzed the pathologic features of 12 children, aged 2-17 years, with chronic inflammatory demyelinating polyneuropathy. Six patients manifested a preceding illness. Five patients presented a chronic, monophasic course, and seven presented a relapsing-remitting course. Three patients exhibited multiple cranial-nerve involvement. Five of 12 (41.7%) patients presented nonuniform features. Two subtypes of nonuniform lesions were revealed. One exhibited varying myelinated fiber content between nerve fascicles, and one exhibited onion bulbs involving a variable number of fascicles. Macrophages were evident in 11 patients, and the number of CD3-positive T cells in the nonuniform group was greater compared with the uniform group (P = 0.045). Our results demonstrate that childhood chronic inflammatory demyelinating polyneuropathy exhibits pathologically nonuniform features, thus providing more evidence to assist in differential diagnoses of pediatric patients. However, clinical and electrophysiologic features, as well as responses to treatment, were similar in the nonuniform and uniform groups.

  9. Characteristics of muscle cramps in patients with polyneuropathy.

    PubMed

    Maxwell, Sarah K; Kokokyi, Seint; Breiner, Ari; Ebadi, Hamid; Bril, Vera; Katzberg, Hans D

    2014-08-01

    Muscle cramps are common in the general population and can be disabling for patients, but there is little evidence comprehensively evaluating cramp characteristics in patients with polyneuropathy. This study describes the prevalence and characteristics of muscle cramps in this patient group. Patients over 18 diagnosed with polyneuropathy were invited to join the study. Patients completed nerve conduction studies, the Toronto Clinical Neuropathy score, neuropathy-specific Vickrey's Quality of Life Assessment and a self-administered questionnaire examining demographics, neuropathy symptoms and cramp characteristics. Two hundred and twenty-five participants were enrolled (28.0% female). Sixty-three percent of patients experienced cramps, occurring on average 6 times per week, lasting 10.5 min and scoring 6 out of 10 on a pain scale and described as disabling by 43.6% of patients. No significant difference was found in cramp prevalence according to underlying pathophysiology (p = 0.52) or fiber type (p = 0.41). Patients with disabling cramps rated their physical (p < 0.0001) and mental (p = 0.04) quality of life lower than patients without disabling cramps. This study confirms that muscle cramps are common, disabling and associated with reduced quality of life in patients with polyneuropathy. Similar prevalence of cramps across predominant nerve fiber type suggests a role of sensory afferents in cramp generation, although this needs to be confirmed in larger cohorts.

  10. Early identification of ‘acute-onset’ chronic inflammatory demyelinating polyneuropathy

    PubMed Central

    Sung, Jia-Ying; Tani, Jowy; Park, Susanna B.; Kiernan, Matthew C.

    2014-01-01

    Distinguishing patients with acute-onset chronic inflammatory demyelinating polyneuropathy from acute inflammatory demyelinating polyneuropathy prior to relapse is often challenging at the onset of their clinical presentation. In the present study, nerve excitability tests were used in conjunction with the clinical phenotype and disease staging, to differentiate between patients with acute-onset chronic inflammatory demyelinating polyneuropathy and patients with acute inflammatory demyelinating polyneuropathy at an early stage, with the aim to better guide treatment. Clinical assessment, staging and nerve excitability tests were undertaken on patients initially fulfilling the diagnostic criteria of acute inflammatory demyelinating polyneuropathy soon after symptom onset and their initial presentation. Patients were subsequently followed up for minimum of 12 months to determine if their clinical presentations were more consistent with acute-onset chronic inflammatory demyelinating polyneuropathy. Clinical severity as evaluated by Medical Research Council sum score and Hughes functional grading scale were not significantly different between the two cohorts. There was no difference between the time of onset of initial symptoms and nerve excitability test assessment between the two cohorts nor were there significant differences in conventional nerve conduction study parameters. However, nerve excitability test profiles obtained from patients with acute inflammatory demyelinating polyneuropathy demonstrated abnormalities in the recovery cycle of excitability, including significantly reduced superexcitability (P < 0.001) and prolonged relative refractory period (P < 0.01), without changes in threshold electrotonus. In contrast, in patients with acute-onset chronic inflammatory demyelinating polyneuropathy, a different pattern occurred with the recovery cycle shifted downward (increased superexcitability, P < 0.05; decreased subexcitability, P < 0.05) and increased

  11. Shoe-makers' polyneuropathy in Italy: the aetiological problem.

    PubMed Central

    Abbritti, G; Siracusa, A; Cianchetti, C; Coli, A; Curradi, F; Perticoni, G F; De Rosa, F

    1976-01-01

    Since 1957, when the first cases of the so-called shoe-makers' toxic polyneuropathy were reported, nearly 400 cases have been described in the Italian literature. The substance that was considered to be responsible for the disease was triorthocresylphosphate (TOCP) contained in glues, artificial leathers, and some types of paints. However numerous chemical analyses of glues and leathers taken from factories where cases of the disease occurred have shown that in almost all instances little or no TOCP was present. In addition the disease manifests itself more frequently during winter and spring and this is not consistent with the absorption of the causative agent through the skin and/or gastrointestinal tract. In order to clarify the aetiology of the disease 122 workers in the shoe industry affected by toxic polymeuropathy during the period 1971-74 were studied. Workplaces where cases of polyneuropathy had occurred were visited and samples of glues and solvents were taken for chemical analysis. The polyneuropathy chiefly affects workers engaged in glueing and in the cleaning process, but it also affects those who do not have direct contact with glues or solvents. The disease is more common in women (68%) than in men (32%) and, in its more severe form begins with overwhelming prevalence during winter and early spring regardless of the job performed. No direct relationship has been found between the severity of the disease and the number of years of work in the shoe industry or of specific exposure (that is the number of years of work in the activity performed at the onset of the disease). The polyneuropathy is found almost exclusively among workers of the artisam type in small shoe factories, where standards of hygiene are low. Chemical analysis of glues and cleaning fluids collected from five different factories, where 20 cases of polyneuropathy occurred, showed the presence of paraffin hydrocarbons with a low boiling point (pentane, 2-methyl-pentane, 3-methyl

  12. Objective evidence that small-fiber polyneuropathy underlies some illnesses currently labeled as fibromyalgia

    PubMed Central

    Oaklander, Anne Louise; Herzog, Zeva Daniela; Downs, Heather; Klein, Max M.

    2013-01-01

    Fibromyalgia is a common, disabling, syndrome that includes chronic widespread pain plus other diverse symptoms. No specific objective abnormalities have been identified, precluding definitive testing, disease-modifying treatments, and identification of causes. In contrast, small-fiber polyneuropathy (SFPN), despite causing similar symptoms, is definitionally a disease caused by dysfunction and degeneration of peripheral small-fiber neurons. SFPN has established etiologies, some diagnosable and definitively treatable, e.g., diabetes. To evaluate the hypothesis that some patients labeled with “fibromyalgia” have unrecognized SFPN causing their illness symptoms, we analyzed SFPN-associated symptoms, signs, and pathological and physiological markers in 27 fibromyalgia patients and 30 matched normal controls. Fibromyalgia subjects had to satisfy American College of Rheumatology criteria plus present documented evidence of a physician’s actual fibromyalgia diagnosis. Study instruments comprised the Michigan Neuropathy Screening Instrument (MNSI), the Utah Early Neuropathy Scale (UENS), distal-leg neurodiagnostic skin biopsies, plus autonomic-function testing (AFT). 41% of skin biopsies from fibromyalgia subjects vs. 3% of biopsies from control subjects were diagnostic for SFPN, and MNSI and UENS scores were higher among fibromyalgia than control subjects (all P ≤ 0.001). Abnormal AFTs were equally prevalent suggesting that fibromyalgia-associated SFPN is primarily somatic. Blood tests from all 13 fibromyalgia subjects with SFPN-diagnostic skin biopsies provided insights into etiologies. All glucose tolerance tests were normal, but eight subjects had dysimmune markers, 2 had hepatitis C serologies, and one family had apparent genetic causality. These findings suggest that some patients with chronic pain labeled as “fibromyalgia” have unrecognized small-fiber polyneuropathy, a distinct disease that can be objectively tested for and sometimes definitively

  13. A case of chronic inflammatory demyelinating polyneuropathy presented with unilateral ptosis.

    PubMed

    Izadi, Sadegh; Karamimagham, Sina; Poursadeghfard, Maryam

    2014-01-01

    Chronic Inflammatory Demyelinating Polyneuropathy is an autoimmune disease with progressive and relapsing courses. The main clinical presentations are diffuse deep tendon hyporeflexia or areflexia and symmetric proximal-distal muscles weakness. Myasthenia gravis is also an immune mediated disease with fluctuating ocular and bulbar symptoms and sometimes weakness. Although both myasthenia gravis and chronic inflammatory demyelinating polyneuropathy are immune mediated disorders, clinical presentations are obviously different in the two diseases. Herein, we will report a case of chronic inflammatory demyelinating polyneuropathy who presented with isolated unilateral ptosis. Initially, the patient was managed as ocular type of myasthenia gravis, but after progression to general limb weakness and areflexia, the diagnosis of chronic inflammatory demyelinating polyneuropathy was made. Although unilateral ptosis is a typical feature of myasthenia gravis, it may be seen as the first presentation of chronic inflammatory demyelinating polyneuropathy as well which mimics myasthenia gravis disease.

  14. Autoantibodies against vinculin in patients with chronic inflammatory demyelinating polyneuropathy.

    PubMed

    Beppu, Minako; Sawai, Setsu; Satoh, Mamoru; Mori, Masahiro; Kazami, Takahiro; Misawa, Sonoko; Shibuya, Kazumoto; Ishibashi, Masumi; Sogawa, Kazuyuki; Kado, Sayaka; Kodera, Yoshio; Nomura, Fumio; Kuwabara, Satoshi

    2015-10-15

    To identify the target molecules of chronic inflammatory demyelinating polyneuropathy (CIDP), we used proteomic-based approach in the extracted proteins from porcine cauda equina. Two of 31 CIDP patients had markedly elevated serum autoantibodies against vinculin, a cell adhesion protein. Both of the patients with anti-vinculin antibodies had similar clinical manifestation, which are compatible with those of "typical" CIDP. Immunocytochemistry showed that vinculin was stained at the myelin sheath of the sciatic nerves by serum samples. Our results suggest that vinculin is a possible immunological target molecule in a subpopulation of typical CIDP patients.

  15. Chronic inflammatory demyelinating polyneuropathy after treatment with interferon-alpha.

    PubMed

    Hirotani, Makoto; Nakano, Hitoshi; Ura, Shigehisa; Yoshida, Kazuto; Niino, Masaaki; Yabe, Ichiro; Sasaki, Hidenao

    2009-01-01

    Interferon-alpha (IFN-alpha), though widely used for the treatment of chronic viral hepatitis, may be associated with the occurrence of autoimmune disorders. In this case report, a patient with chronic hepatitis C virus infection had chronic inflammatory demyelinating polyneuropathy (CIDP) after the initiation of IFN-alpha therapy. The neurological symptoms of this patient continued to progress even though the treatment with IFN-alpha had been withdrawn; the symptoms improved dramatically following treatment with intravenous immunoglobulin. This case may therefore provide an important clue to understand the immune mechanism of CIDP and IFN-alpha.

  16. Gene expression changes in chronic inflammatory demyelinating polyneuropathy skin biopsies.

    PubMed

    Puttini, Stefania; Panaite, Petrica-Adrian; Mermod, Nicolas; Renaud, Susanne; Steck, Andreas J; Kuntzer, Thierry

    2014-05-15

    Chronic-inflammatory demyelinating polyneuropathy (CIDP) is an immune-mediated disease with no known biomarkers for diagnosing the disease or assessing its prognosis. We performed transcriptional profiling microarray analysis on skin punch biopsies from 20 CIDP patients and 17 healthy controls to identify disease-associated gene expression changes. We demonstrate changes in expression of genes involved in immune and chemokine regulation, growth and repair. We also found a combination of two upregulated genes that can be proposed as a novel biomarker of the disorder.

  17. [Infrared thermography and electroneuromyography in occupational polyneuropathy diagnosis].

    PubMed

    Loginova, N N; Voitenkov, V B

    2013-01-01

    We have evaluated diagnostic value of the combination of infrared thermography and electromyography in professional polyneuropathy diagnosis. 20 patients with working-hand syndrome and 5 controls were enrolled. In 18 cases (90%) both methods were sensitive: on EMG CNV slowing and amplitudes drop were seen, as well as M-response shape changes, and thermography have detected focal hypothermia in hands in some cases and appearance of obscure hypothermia in others. Thus, both methods demonstrated good sensitivity. We recommend using thermography as a screening test and EMG as a following investigation.

  18. Reconstruction magnetic resonance neurography in chronic inflammatory demyelinating polyneuropathy.

    PubMed

    Shibuya, Kazumoto; Sugiyama, Atsuhiko; Ito, Sho-ichi; Misawa, Sonoko; Sekiguchi, Yukari; Mitsuma, Satsuki; Iwai, Yuta; Watanabe, Keisuke; Shimada, Hitoshi; Kawaguchi, Hiroshi; Suhara, Tetsuya; Yokota, Hajime; Matsumoto, Hiroshi; Kuwabara, Satoshi

    2015-02-01

    To study distribution and patterns of nerve hypertrophy in chronic inflammatory demyelinating polyneuropathy (CIDP), magnetic resonance neurography with 3-dimensional reconstruction of short tau inversion recovery images was performed in 33 patients. This technique clearly showed longitudinal morphological changes from the cervical roots to the nerve trunks in the proximal arm. Nerve enlargement was detected in 88% of the patients. According to the clinical subtype of CIDP, typical CIDP patients showed symmetric and root-dominant hypertrophy, whereas Lewis-Sumner syndrome patients had multifocal fusiform hypertrophy in the nerve trunks. The patterns of nerve hypertrophy presumably reflect the different pathophysiology of each CIDP subtype.

  19. An outbreak of N-hexane induced polyneuropathy among press proofing workers in Taipei.

    PubMed

    Wang, J D; Chang, Y C; Kao, K P; Huang, C C; Lin, C C; Yeh, W Y

    1986-01-01

    The objective of this study was to determine the prevalence and the etiology of polyneuropathy observed among press proofing workers in Taipei. Neurological examinations of 59 workers, from 16 press proofing factories, were conducted. Fifty-four of those workers subsequently underwent studies of nerve conduction velocities. Samples of bulk solvent from the involved factories were analyzed for their contents using gas chromatography. Fifteen (25%) of the study group were found to have polyneuropathy. All 15 patients with polyneuropathy were from factories in which solvents containing n-hexane were regularly used, and there was a significant association between n-hexane concentration in the bulk samples and prevalence of polyneuropathy. The air concentration of n-hexane in one factory in which all six employees developed polyneuropathy was 190 ppm. Workers who were exposed to n-hexane at air levels of less than 100 ppm but who frequently worked overtime showed a significant slowing of motor nerve conduction velocities on median, ulnar, and peroneal nerves. Of 13 workers who regularly slept in the factory, 12 (92%) had polyneuropathy compared to three (7%) of 46 workers who did not sleep in the factory. The outbreak of polyneuropathy was attributed to a combination of the use of solvents with high contents of n-hexane, poor ventilation, and the practice of sleeping in the factories between shifts.

  20. Impairments and comorbidities of polyneuropathy revealed by population-based analyses

    PubMed Central

    Hoffman, E. Matthew; Staff, Nathan P.; Robb, Jared M.; St. Sauver, Jennifer L.; Dyck, Peter J.

    2015-01-01

    Objective: To quantify polyneuropathy impairments and comorbidities utilizing the Rochester Epidemiology Project (2010 census = 148,201). Methods: ICD-9-CM coding identified polyneuropathy cases (2006–2010) and their 5:1 age- and sex-matched controls. Mortality and impairments were evaluated while identifying and adjusting for Charlson Index comorbidities. Results: Overall prevalence of polyneuropathy was 1.66%, and markedly rose to 6.6% in persons older than 60 years. Cases (n = 2,892) had more comorbidities than controls (n = 14,435) with higher median Charlson Index (6 vs 3, p < 0.001). Diabetes with end-organ disease represented the largest increased comorbidity in cases compared with controls (46.8% vs 6.5%). Diabetic polyneuropathy was the most common specific subtype (38.2%). Miscoded idiopathic cases and false-negative controls also commonly had diabetic polyneuropathy. Median modified Rankin Scale score was considerably higher for cases than controls (4 vs 1, p < 0.001). Multiple comorbidities were found associated with polyneuropathy after adjusting for diabetes co-occurrence, including pulmonary disease, dementia, and others. Polyneuropathy was an independent contributor to multiple functional impairments including difficulty walking (odds ratio [OR] = 1.9), climbing stairs (OR = 2.0), using an assistive device (OR = 2.0), fall tendency (OR = 2.4), work disability (OR = 4.2), lower limb amputations (OR = 3.9), and opioid use (OR = 2.7). Prevalent cases had a younger median age at death than controls (80 vs 86 years, p < 0.001), and incident cases had a 6-month shorter survival. Conclusions: Polyneuropathies have notable neurologic impairments beyond their identified multiple comorbidities. Life expectancy is shortened. Diabetic polyneuropathy is underidentified. The quantified extent of the disease burden and refined comorbidity associations emphasize that greater research efforts and health care initiatives are needed. PMID:25832668

  1. Evaluation of a patient with suspected chronic demyelinating polyneuropathy.

    PubMed

    Jani-Acsadi, Agnes; Lewis, Richard A

    2013-01-01

    Demyelinating neuropathies are typically characterized by physiological slowing of conduction velocity and pathologically by segmental loss of myelin and in some instances, evidence of remyelination. Clinically, patients with demyelinating neuropathy can be seen with inherited disorders (Charcot-Marie-Tooth disease) or acquired disorders, typically immune-mediated or inflammatory. The acquired disorders can be either acute or subacute as seen in the acute inflammatory demyelinating polyneuropathy (AIDP) form of Guillain-Barré syndrome or chronic progressive or relapsing disorders such as chronic inflammatory demyelinating polyneuropathy. It is important to develop a logical approach to diagnosing these disorders. This requires an understanding of the clinical, genetic, physiological, and pathological features of these neuropathies. Clinically, important features to consider are the temporal progression, degree of symmetry, and involvement of proximal as well as distal muscles. Genetically, recognizing the different inheritance patterns and age of onset allow for a coordinated approach to determining a specific genotype. Physiologically, besides nerve conduction slowing, other physiological hallmarks of demyelination include temporal dispersion of compound motor action potentials (CMAP) on proximal stimulation, conduction block, and distal CMAP duration prolongation with certain patterns of involvement pointing to specific disorders. This chapter focuses on these various aspects of the evaluation of patients with chronic acquired demyelinating neuropathies to develop a comprehensive and thoughtful diagnostic concept.

  2. Childhood chronic inflammatory demyelinating polyneuropathy: an overview of 10 cases in the modern era.

    PubMed

    Ware, Tyson L; Kornberg, Andrew J; Rodriguez-Casero, M Victoria; Ryan, Monique M

    2014-01-01

    Chronic inflammatory demyelinating polyneuropathy is a rare condition in children. In this article, we report our experience in the management of 10 cases of childhood chronic inflammatory demyelinating polyneuropathy in a single center, in the era of contrast-enhanced magnetic resonance imaging (MRI), genetic microarray, and chronic inflammatory demyelinating polyneuropathy disease activity status. Robust neurophysiologic abnormalities were present in all cases and both MRI and lumbar puncture were useful adjuncts in diagnosis. Genetic microarray is a simple technique useful in excluding the most common hereditary demyelinating neuropathy. Intravenous immunoglobulin was an effective first-line therapy in most cases, with refractory cases responding to corticosteroids and rituximab. We found the chronic inflammatory demyelinating polyneuropathy disease activity status useful for assessing outcome at final follow-up, whereas the modified Rankin score was better for assessing peak motor disability.

  3. Neuromuscular Ultrasound in the Assessment of Polyneuropathies and Motor Neuron Disease

    PubMed Central

    Shen, Jack; Cartwright, Michael S.

    2015-01-01

    Neuromuscular ultrasound is an emerging technology for the evaluation of conditions affecting nerve and muscle, with the majority of research focusing on focal neuropathies. Despite this focus, researchers have also investigated the ultrasonographic changes that occur in the nerves and muscles of those with more diffuse polyneuropathies and motor neuron diseases, and this review will detail the findings in these conditions. Specific findings are discussed in this paper, but general themes will also be presented and include the following: hereditary polyneuropathies show diffuse nerve enlargement whereas immune-mediated polyneuropathies show more patchy involvement; nerve enlargement is more profound in demyelinating than axonal polyneuropathies; and muscle changes in motor neuron diseases include heterogeneous increases in echogenicity, atrophy, readily detectable fasciculations, and increased subcutaneous tissue thickness. PMID:27035248

  4. Acute peripheral polyneuropathy with multiorgan failure: a diagnostic dilemma

    PubMed Central

    Hussain, Kosar; Abubaker, Jawed; Ahmad Dar, Javeed; Ahmed, Raees

    2014-01-01

    We describe the case of a young man who presented with abdominal pain, vomiting and acute symmetric peripheral polyneuropathy. He was noted to have high anion gap metabolic acidosis with high lactate levels and persistently high arterial and venous pO2 values. The cerebrospinal fluid was acellular with a high protein and the nerve conduction study was consistent with axonal sensorimotor neuropathy. His clinical condition deteriorated rapidly despite full supportive care and he subsequently died of multiorgan failure. An extensive workup for various infectious, autoimmune and other possible aetiologies was carried out to identify the underlying cause for his fulminant illness. All diagnostic workup was non-conclusive except for a significantly elevated serum aluminium level. We have discussed the possibility of aluminium phosphide poisoning in view of the clinical presentation. PMID:24899008

  5. Intractable chronic inflammatory demyelinating polyneuropathy treated successfully with ciclosporin

    PubMed Central

    Odaka, M; Tatsumoto, M; Susuki, K; Hirata, K; Yuki, N

    2005-01-01

    Background: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a heterogeneous disorder and both clinical course and response to treatment vary widely. Because of the propensity for relapse, CIDP requires maintenance therapy after the initial response to treatment. There is no consensus regarding this in the published literature. Present report: A patient with CIDP was treated with oral prednisolone and cyclophosphamide pulse therapy but required repeated plasma exchange and intravenous immunoglobulin (IVIg). Treatment with ciclosporin freed the patient from repeated IVIg administration. Therapeutic responses in 14 subsequent cases including three patients who showed improvement with ciclosporin are also presented along with an algorithm of the authors' suggested protocol for treatment. Conclusion: Ciclosporin should be considered for patients with intractable CIDP who require repeated IVIg. PMID:16024890

  6. Parenteral nutrition improves nutritional status, autonomic symptoms and quality of life in transthyretin amyloid polyneuropathy.

    PubMed

    Russo, Massimo; Vita, Gian Luca; Stancanelli, Claudia; Mazzeo, Anna; Vita, Giuseppe; Messina, Sonia

    2016-06-01

    Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an inherited amyloidosis, leading to death in about ten years in most cases due to cardiac failure or wasting syndrome. Previous studies showed that modified body mass index was related to time before death, duration of gastrointestinal disturbances, malabsorption and functional capacity. We report two patients in whom nutritional status worsened despite diet modification, hypercaloric supplement and two relevant therapeutic approaches such as liver transplant and tafamidis meglumine, respectively. The first patient, a 52-year-old lady carrying Thr49Ala mutation, had a disease duration of twelve years and had lost weight up to 35 kg because of daily diarrhea. The second patient, a 63-year-old man with Glu89Gln mutation and a disease duration of fifteen years, was in the New York Heart Association (NYHA) Functional Classification class III and his weight was 39 kg. In both cases, a peripherally inserted central catheter was placed for parenteral nutrition. It allowed to improve their nutritional status and clinical conditions, with body weight gains of 11 and 8 kg in a one year follow-up, respectively. Moreover, reduction of autonomic symptoms including postural hypotension, nausea and diarrhoea was recorded with ameliorated quality of life. Our experience suggests that parenteral nutrition may be useful in reducing complications and disabilities in TTR-FAP patients, even when all dietary adjustments have been ineffective. Reasonably, the improvement in nutritional status may prolong survival in TTR-FAP patients.

  7. [α-Lipoic acid as the main pharmacological drug for in- and outpatient treatment of diabetic polyneuropathy].

    PubMed

    Strokov, I A; Phokina, A S

    2017-01-01

    α-Lipoic acid, or thioctic acid, (ALA) is the most applicable pharmacological drug for treatment of diabetic polyneuropathy. The article explores the results of experimental studies on the α-lipoic acid effect on mechanisms of peripheral nerves affection in hyperglycemia as well as the data of numerous randomized controlled trials and meta-analyses on studying ALA efficacy in symptomatic diabetic polyneuropathy. It has been shown that amelioration of patients with diabetic polyneuropathy is observed both for ALA infusions and tableted form of the drug. The authors conclude that α-lipoic acid is a drug for treatment of pathogenetic development mechanisms of diabetic polyneuropathy with the best proven efficacy.

  8. An ARHGEF10 Deletion Is Highly Associated with a Juvenile-Onset Inherited Polyneuropathy in Leonberger and Saint Bernard Dogs

    PubMed Central

    Minor, Katie M.; Shelton, G. Diane; Patterson, Edward E.; Bley, Tim; Oevermann, Anna; Bilzer, Thomas; Leeb, Tosso

    2014-01-01

    An inherited polyneuropathy (PN) observed in Leonberger dogs has clinical similarities to a genetically heterogeneous group of peripheral neuropathies termed Charcot-Marie-Tooth (CMT) disease in humans. The Leonberger disorder is a severe, juvenile-onset, chronic, progressive, and mixed PN, characterized by exercise intolerance, gait abnormalities and muscle atrophy of the pelvic limbs, as well as inspiratory stridor and dyspnea. We mapped a PN locus in Leonbergers to a 250 kb region on canine chromosome 16 (Praw = 1.16×10−10, Pgenome, corrected = 0.006) utilizing a high-density SNP array. Within this interval is the ARHGEF10 gene, a member of the rho family of GTPases known to be involved in neuronal growth and axonal migration, and implicated in human hypomyelination. ARHGEF10 sequencing identified a 10 bp deletion in affected dogs that removes four nucleotides from the 3′-end of exon 17 and six nucleotides from the 5′-end of intron 17 (c.1955_1958+6delCACGGTGAGC). This eliminates the 3′-splice junction of exon 17, creates an alternate splice site immediately downstream in which the processed mRNA contains a frame shift, and generates a premature stop codon predicted to truncate approximately 50% of the protein. Homozygosity for the deletion was highly associated with the severe juvenile-onset PN phenotype in both Leonberger and Saint Bernard dogs. The overall clinical picture of PN in these breeds, and the effects of sex and heterozygosity of the ARHGEF10 deletion, are less clear due to the likely presence of other forms of PN with variable ages of onset and severity of clinical signs. This is the first documented severe polyneuropathy associated with a mutation in ARHGEF10 in any species. PMID:25275565

  9. Diagnosis and treatment of chronic acquired demyelinating polyneuropathies.

    PubMed

    Latov, Norman

    2014-08-01

    Chronic neuropathies are operationally classified as primarily demyelinating or axonal, on the basis of electrodiagnostic or pathological criteria. Demyelinating neuropathies are further classified as hereditary or acquired-this distinction is important, because the acquired neuropathies are immune-mediated and, thus, amenable to treatment. The acquired chronic demyelinating neuropathies include chronic inflammatory demyelinating polyneuropathy (CIDP), neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein (MAG; anti-MAG neuropathy), multifocal motor neuropathy (MMN), and POEMS syndrome. They have characteristic--though overlapping--clinical presentations, are mediated by distinct immune mechanisms, and respond to different therapies. CIDP is the default diagnosis if the neuropathy is demyelinating and no other cause is found. Anti-MAG neuropathy is diagnosed on the basis of the presence of anti-MAG antibodies, MMN is characterized by multifocal weakness and motor conduction blocks, and POEMS syndrome is associated with IgG or IgA λ-type monoclonal gammopathy and osteosclerotic myeloma. The correct diagnosis, however, can be difficult to make in patients with atypical or overlapping presentations, or nondefinitive laboratory studies. First-line treatments include intravenous immunoglobulin (IVIg), corticosteroids or plasmapheresis for CIDP; IVIg for MMN; rituximab for anti-MAG neuropathy; and irradiation or chemotherapy for POEMS syndrome. A correct diagnosis is required for choosing the appropriate treatment, with the aim of preventing progressive neuropathy.

  10. Axonal and perikaryal involvement in chronic inflammatory demyelinating polyneuropathy

    PubMed Central

    Nagamatsu, M; Terao, S; Misu, K; Li, M; Hattori, N; Ichimura, M; Sakai, M; Yamamoto, H; Watanabe, H; Riku, S; Ikeda, E; Hata, J; Oda, M; Satake, M; Nakamura, N; Matsuya, S; Hashizume, Y; Sobue, G

    1999-01-01

    OBJECTIVES—To assess the extent of loss of myelinated nerve fibres and spinal motor neuron loss in chronic inflammatory demyelinating polyneuropathy (CIDP), a clinicopathological study was conducted on biopsied sural nerves and necropsied spinal cords from patients with CIDP.
METHODS—The myelinated fibre pathology of 71 biopsied sural nerves and motor neuron pathology of nine necropsied spinal cords at L4 levels in patients with CIDP were quantitatively and immunohistochemically assessed.
RESULTS—Myelinated nerve fibre density was significantly diminished to 65.4% of the control values (p <0.0001), correlating inversely with the extent of segmental demyelination and remyelination (r = −0.43, p < 0.0005) and duration of illness (r = −0.31, p < 0.01). Numbers of large spinal motor neurons in CIDP were variably but significantly diminished (range from 46.0 to 97.6% of the age matched control value (p < 0.005)), and reactive astrogliosis was evident in the ventral horn in CIDP. The frequency of ventral horn neurons exhibiting central chromatolysis and the accumulation of phosphorylated high molecular weight neurofilament protein was significantly higher in CIDP than in controls (p<0.01 and p<0.05).
CONCLUSIONS—The loss of nerve axons and spinal motor neurons is common in CIDP, and extensive in some cases. These neuronal and axonal losses may influence the functional prognosis in CIDP.

 PMID:10329744

  11. A standardized clinical evaluation of phenotypic diversity in diabetic polyneuropathy.

    PubMed

    Scholz, Joachim; Rathmell, James P; David, William S; Chad, David A; Broderick, Alithia C; Perros, Stephen G; Shin, Naomi S; Wells, Jenna L; Davis, John B; DiMaggio, Charles J; Wang, Shuang; Tate, Simon N

    2016-10-01

    Diabetic polyneuropathy (DPN) is a major cause of neuropathic pain and a frequent target condition in analgesic treatment trials. Differences in the clinical symptoms and signs associated with DPN suggest distinct pathophysiological mechanisms underlying nerve damage and dysfunction that are likely to have therapeutic relevance. The aim of this study was to develop a tool for the bedside assessment of painful neuropathies such as DPN that captures the diversity of phenotypes. Sixty-one patients with type 2 diabetes and painful neuropathy, 19 patients with painless DPN, 25 patients with type 2 diabetes but no clinical evidence of neuropathy, and 20 healthy control subjects completed a structured interview (47 items) and a standardized physical examination (39 items). After analyzing critical features of pain and painless symptoms and examining the outcome of physical tests of sensory function, we determined principal components of the phenotypic variance among patients. Increased sensitivity to mechanical or thermal stimuli and, to a lesser extent, the sensory quality of pain or paresthesia were the most discriminating elements of DPN phenotypes. Correlation patterns of symptoms and signs indicated the involvement of functionally distinct nerve fiber populations. We combined interview questions and physical tests identifying these differences in a shortened assessment protocol that we named Standardized Evaluation of Pain and Somatosensory Function (StEPS). The protocol StEPS generates a phenotypic profile of patients with neuropathy. Separate intensity ratings for spontaneous painful symptoms and pain evoked by standard stimuli support a detailed documentation of neuropathic pain and its response to analgesic treatment.

  12. Mechanisms and Management of Diabetic Painful Distal Symmetrical Polyneuropathy

    PubMed Central

    Tesfaye, Solomon; Boulton, Andrew J.M.; Dickenson, Anthony H.

    2013-01-01

    Although a number of the diabetic neuropathies may result in painful symptomatology, this review focuses on the most common: chronic sensorimotor distal symmetrical polyneuropathy (DSPN). It is estimated that 15–20% of diabetic patients may have painful DSPN, but not all of these will require therapy. In practice, the diagnosis of DSPN is a clinical one, whereas for longitudinal studies and clinical trials, quantitative sensory testing and electrophysiological assessment are usually necessary. A number of simple numeric rating scales are available to assess the frequency and severity of neuropathic pain. Although the exact pathophysiological processes that result in diabetic neuropathic pain remain enigmatic, both peripheral and central mechanisms have been implicated, and extend from altered channel function in peripheral nerve through enhanced spinal processing and changes in many higher centers. A number of pharmacological agents have proven efficacy in painful DSPN, but all are prone to side effects, and none impact the underlying pathophysiological abnormalities because they are only symptomatic therapy. The two first-line therapies approved by regulatory authorities for painful neuropathy are duloxetine and pregabalin. α-Lipoic acid, an antioxidant and pathogenic therapy, has evidence of efficacy but is not licensed in the U.S. and several European countries. All patients with DSPN are at increased risk of foot ulceration and require foot care, education, and if possible, regular podiatry assessment. PMID:23970715

  13. Influence Of Low Intensity Laser Therapy On Diabetic Polyneuropathy

    NASA Astrophysics Data System (ADS)

    Abdel-Raoof, N. A.; Elnhas, N. G.; Elsayed, I. M.

    2011-09-01

    Diabetic peripheral neuropathy is a consequence of diabetes-mediated impairment of blood flow, and resultant hypoxia of nerves that may develop within 10 years of the onset of diabetes in 40-50% of people with type 1 or type 2 diabetes. Low Intensity Laser Therapy (LILT) has been advocated for the treatment of chronic pain disorders as blood flow is an important determinant for pain relief. Comparing the effect of Helium-Neon Laser therapy versus Infrared laser therapy on blood vessels diameter and flow as well as level of sensation for neuropathy. Twenty diabetic patients suffering from neuropathy were enrolled in the study with age 45-55 years. They were assigned randomly into two equal groups in number; Group A underwent an application of He-Neon laser while Group B underwent an application of Infrared laser. Both groups received laser for 2 months. Blood flow velocity, and blood vessel diameter were investigated by using duplex Doppler ultrasound and peripheral neuropathy parameters were investigated by Semmes-Weinstein monofilament assessment. The results revealed that He-Neon laser as well as Infrared laser groups showed significant improvement in blood flow velocity, blood vessel diameter & neuropathy tested parameters after treatment but there was no significance difference between the two types of LILT. LILT is a safe, non-invasive and drug free method for improving blood flow & sensation in patients suffering from diabetic polyneuropathy in addition to preventing one of the most threatening microvascular complications of diabetes.

  14. [Amyloidosis and familial Mediterranean fever].

    PubMed

    Pras, M

    1986-01-01

    Familial Mediterranean Fever (F. M. F.) is an autosomal recessive disorder occurring most commonly in Sepharadi Jews and Armenians. Two phenotypic features characterize the disease: brief episodic febrile attacks of peritonitis, pleuritis or synovitis recurring from childhood or adolescence and the development of systemic amyloidosis. Attacks are accompanied by striking elevations of acute phase proteins, including serum amyloid A protein. The amyloidosis of Familial Mediterranean Fever is of the AA type, and manifest clinically as a nephropathy that passes through proteinuria, nephrotic and uremic stages to renal death. Although there is ethnic variation in the incidence of amyloidosis of F. M. F. in our patient population--predominantly Sepharadi Jews of North African extraction--an amyloidotic death at an early age is their genetic destiny. Since the introduction in 1972 of colchicine to prevent the febrile attacks, the drug has been proven and become the main stay of therapy. Today, colchicine has been shown to be effective in preventing amyloidosis as well as the febrile attacks in Familial Mediterranean Fever. End stage renal disease is not the end of the road for patients with F.M.F. because of improving outlook for dialysis and renal transplantation in these patients.

  15. [Spontaneous activity of cutaneous nociceptors in patients with painful polyneuropathy. Report of three patients].

    PubMed

    Campero, Mario; Campero, Sebastián

    2012-11-01

    Painful polyneuropathy may result from selective impairment of small diameter nerve fibers, while tactile and motor functions are preserved. In these patients clinical and electrophysiological assessment is usually unrevealing. We report three patients with a pure painful polyneuropathy. One of them had neurogenic pruritus additionally. Quantitative sensory analysis disclosed a slight warm hypoesthesia (3/3) and paradoxical hot sensation (2/3) in the feet. Intraneural recordings from the peroneal nerve demonstrated abnormal spontaneous activity in 8 of 17 nociceptive afferents. One of them displayed double firing reflecting impulse multiplication. These results support the notion that patients with pain or pruritus with a distal distribution similar to a polyneuropathy, could have small diameter afferent fiber damage, despite normal function of large diameter fibers.

  16. Contactin 1 IgG4 associates to chronic inflammatory demyelinating polyneuropathy with sensory ataxia.

    PubMed

    Miura, Yumako; Devaux, Jérôme J; Fukami, Yuki; Manso, Constance; Belghazi, Maya; Wong, Anna Hiu Yi; Yuki, Nobuhiro

    2015-06-01

    A Spanish group recently reported that four patients with chronic inflammatory demyelinating polyneuropathy carrying IgG4 autoantibodies against contactin 1 showed aggressive symptom onset and poor response to intravenous immunoglobulin. We aimed to describe the clinical and serological features of Japanese chronic inflammatory demyelinating polyneuropathy patients displaying the anti-contactin 1 antibodies. Thirteen of 533 (2.4%) patients with chronic inflammatory demyelinating polyneuropathy had anti-contactin 1 IgG4 whereas neither patients from disease or normal control subjects did (P = 0.02). Three of 13 (23%) patients showed subacute symptom onset, but all of the patients presented with sensory ataxia. Six of 10 (60%) anti-contactin 1 antibody-positive patients had poor response to intravenous immunoglobulin, whereas 8 of 11 (73%) antibody-positive patients had good response to corticosteroids. Anti-contactin 1 IgG4 antibodies are a possible biomarker to guide treatment option.

  17. A 52-year-old woman with disabling peripheral neuropathy: review of diabetic polyneuropathy.

    PubMed

    Rutkove, Seward B

    2009-10-07

    Ms Q is a 52-year-old woman who has had progressive polyneuropathy in the setting of diabetes for the past 8 years. Ms Q's major disability is that of increasingly severe neuropathic pain and cramps that have been poorly responsive to a variety of therapies, including gabapentin and topiramate. The diagnosis of and differential diagnosis for diabetic polyneuropathy are reviewed herein. In general, treatment options for diabetic polyneuropathy remain primarily symptomatic. Improving the metabolic profile through weight loss, exercise, and if necessary, medications may help slow neuropathy progression. Many medications are effective in reducing pain, and newly developed ones, such as pregabalin and duloxetine, while specifically marketed for diabetic neuropathy, are likely to be no better and are considerably more expensive than older ones. Alpha-lipoic acid appears to be effective as well.

  18. Late-onset distal polyneuropathy due to acute organophosphate intoxication case report.

    PubMed

    Genel, Ferah; Arslanoğlu, Sertaç; Uran, Nedret; Doğan, Mustafa; Atlihan, Füsun

    2003-01-01

    Intoxications due to organophosphate insecticides are common in our country, since agriculture has an important place. Besides the well known acute cholinergic toxicity, these compounds may cause late-onset distal polyneuropathy occurring two to three weeks after the acute exposure. An eight-year-old boy and a 13-year-old girl admitted to the hospital with gait disturbances. Beginning 15 and 20 days, respectively, after organophosphate ingestion. Neurologic examination revealed bilateral dropped foot, absent Achilles tendon reflexes and peripheral sensory loss. Electromyography demonstrated motor weighed sensory-motor polyneuropathy with axonal degeneration significant in the distal parts of bilateral lower extremities. Biochemical, radiological findings and magnetic resonance imagings were normal. The two cases were taken under a physiotherapy program. The two cases are presented here since organophosphate poisonings are common in our country, and since late-onset polyneuropathy is not a well known clinical presentation as acute toxicity.

  19. BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.

    PubMed

    Kostera-Pruszczyk, Anna; Suszek, Małgorzata; Płoski, Rafał; Franaszczyk, Maria; Potulska-Chromik, Anna; Pruszczyk, Piotr; Sadurska, Elżbieta; Karolczak, Justyna; Kamińska, Anna M; Rędowicz, Maria Jolanta

    2015-12-01

    BAG3 belongs to BAG family of molecular chaperone regulators interacting with HSP70 and anti-apoptotic protein Bcl-2. It is ubiquitously expressed with strong expression in skeletal and cardiac muscle, and is involved in a panoply of cellular processes. Mutations in BAG3 and aberrations in its expression cause fulminant myopathies, presenting with progressive limb and axial muscle weakness, and respiratory insufficiency and neuropathy. Herein, we report a sporadic case of a 15-years old girl with symptoms of myopathy, demyelinating polyneuropathy and asymptomatic long QT syndrome. Genetic testing demonstrated heterozygous mutation Pro209Leu (c.626C > T) in exon 3 of BAG3 gene causing severe myopathy and neuropathy, often associated with restrictive cardiomyopathy. We did not find a mutation in any known LQT syndrome genes. Analysis of muscle biopsy revealed profound disintegration of Z-discs with extensive accumulation of granular debris and large inclusions within fibers. We demonstrated profound alterations in BAG3 distribution as the protein localized to long filamentous structures present across the fibers that were positively stained not only for α-actinin but also for desmin and filamin indicating that those disintegrated Z-disc regions contained also other sarcomeric proteins. The mutation caused a decrease in the content of BAG3 and HSP70, and also of α-actinin desmin, filamin and fast myosin heavy chain, confirming its severe effect on the muscle fiber morphology and thus function. We provide further evidence that BAG3 is associated with Z-disc maintenance, and the Pro209Leu mutation may occur worldwide. We also provide a summary of cases associated with this mutation reported so far.

  20. Sensory-motor axonal polyneuropathy involving cranial nerves: An uncommon manifestation of disulfiram toxicity.

    PubMed

    Santos, Telma; Martins Campos, António; Morais, Hugo

    2017-01-01

    Disulfiram (tetraethylthiuram disulfide) has been used for the treatment of alcohol dependence. An axonal sensory-motor polyneuropathy with involvement of cranial pairs due to disulfiram is exceedingly rare. The authors report a unique case of an extremely severe axonal polyneuropathy involving cranial nerves that developed within weeks after a regular dosage of 500mg/day disulfiram. To the authors best knowledge, such a severe and rapidly-progressive course has never been described with disulfiram dosages of only 500mg/day.

  1. Usefulness of blink reflex in hypothyroid patients with or without polyneuropathy: a case control study.

    PubMed

    Pawar, Sachin; Udan, Vikas; Jain, Jyoti; Shende, Vinod; Singh, Ramji

    2014-01-01

    Central nervous system (CNS) dysfunction is an important consequence of thyroid deficiency. Cranial nerves are frequently affected in hypothyroid process. On routine nerve conduction studies, symptomatic peripheral and cranial neuropathy can be detected, however, diagnosing subclinical cranial neuropathy pose the major problem. Blink reflex (BR), has been shown to be an effective method for revealing subclinical involvement of cranial nerves in generalized neuropathies. The present study was undertaken to evaluate the efficacy of BR as a method for early diagnosis of subclinical cranial neuropathy in hypothyroid patients with or without overt peripheral polyneuropathy. A case control study was conducted on 150 subjects aged 18 years and above (100 controls, 50 cases). A routine nerve conduction study and BR evaluation was done in all the subjects. We found abnormal BR response in 50% of hypothyroid patients studied. In hypothyroid patient without polyneuropathy R1 latency was significantly prolonged (P < 0.05 Vs control). Ipsilateral and contralateral R2 latencies were significantly prolonged in hypothyroid cases with or without polyneuropathy on bilateral stimulation. Magnitude of prolongation was greater in with polyneuropathy group. In conclusion, study suggests that BR is a useful non-invasive method for the detection of clinically silent cranial nerve compromise in hypothyroid patients.

  2. Rehabilitation of Critical Illness Polyneuropathy and Myopathy Patients: An Observational Study

    ERIC Educational Resources Information Center

    Novak, Primoz; Vidmar, Gaj; Kuret, Zala; Bizovicar, Natasa

    2011-01-01

    Critical illness polyneuropathy and myopathy (CIPNM) frequently develops in patients hospitalized in intensive care units. The number of patients with CIPNM admitted to inpatient rehabilitation is increasing. The aim of this study was to comprehensively evaluate the outcome of their rehabilitation. Twenty-seven patients with CIPNM were included in…

  3. Intrathecal Dexmedetomidine for Anaesthetic Management of a Patient with Chronic Inflammatory Demyelinating Polyneuropathy

    PubMed Central

    Srinivasalu, D

    2016-01-01

    Chronic demyelinating disorders have multifactorial origin but common important physiologic and anaesthetic considerations. Choice of anaesthesia technique and the drugs used, undertanding the pros and cons of using central neuraxial blocks will help in successful management of such patients. We describe the anaesthetic management of a 34-year-old male with chronic inflammatory demyelinating polyneuropathy posted for cystolithotripsy. PMID:27790558

  4. Methodology for conduct of epidemiologic surveys and randomized controlled trials of diabetic polyneuropathy.

    PubMed

    Dyck, Peter James

    2014-01-01

    This chapter outlines: (1) the reasons why epidemiologic surveys and randomized controlled clinical trials (RCTs) of diabetic polyneuropathy (DPN) are difficult and expensive, and often poorly done, (2) primary and secondary neuropathy end points, (3) single versus composite neuropathic end points, (4) adequate reference values from study of population representative cohorts, and (5) the issue of clinical proficiency.

  5. POEMS Syndrome in a Juvenile Initially Diagnosed as Treatment Resistant Chronic Inflammatory Demyelinating Polyneuropathy.

    PubMed

    Krish, Sonia N; Nguyen, Thy; Biliciler, Suur; Kumaravel, Manickam; Wahed, Amer; Risin, Semyon; Sheikh, Kazim A

    2015-12-01

    POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes) is a disorder that mainly affects adults. We report a pediatric patient, initially considered to have Guillain-Barré syndrome, who continued to have progression of neuropathic disease leading to the diagnosis of chronic inflammatory demyelinating polyneuropathy. Diagnosis of POEMS was established by an abnormal bone marrow biopsy, prompted by laboratory and imaging findings, which became abnormal later in the course of the disease. POEMS syndrome is extremely rare in children, and neuropathic features in this age group have not been previously described. This case illustrates that "Guillain-Barré syndrome-like" initial presentation for POEMS, which has not been previously reported. It also emphasizes that in children with progressive acquired neuropathies that are treatment unresponsive, POEMS syndrome should be considered.

  6. A Rare Case of Polyneuropathy and Monoclonalgammopathy with Recurrent Acute Kidney Injury

    PubMed Central

    Kim, Eun Jung; Shin, Dong Ho; Jeon, Hee Jung; Rhee, So Yon; Nam, Eun Sook; Park, Ji Young

    2016-01-01

    POEMS syndrome is a rare paraneoplastic syndrome and there are few reports of polyneuropathy and monoclonal gammopathy associated with kidney dysfunction. Here, we report a case of POEMS syndrome with recurrent acute kidney injury (AKI). A 52-year-old man presented with bilateral aggravating paresthesia and latermotor weakness of the lower extremities accompanied by repeated elevation of serum creatinine. The patient was finally diagnosed with POEMS syndrome on the basis of fulfilling the two mandatory major criteria (polyneuropathy and monoclonal gammopathy), one other major criterion (sclerotic bone lesion), and several minor criteria. A renal biopsy was performed to clarify the cause of AKI and showed membranoproliferative glomerulonephritis-like lesions with mesangiolysis and endothelial cell injury. This case illustrates that renal manifestations, not included in the diagnostic criteria for POEMS, can be apparent before various other systemic symptoms. PMID:27453713

  7. Amyloidotic muscle pseudohypertrophy: case report.

    PubMed

    Scola, R H; Werneck, L C; Ramos, C S; Pasquini, R; Graf, H; Arruda, W O

    2001-09-01

    The authors report one case of amyloidosis associated with muscular pseudohypertrophy in a 46-year-old woman, who developed weakness, macroglossia and muscle hypertrophy associated with primary systemic amyloidosis. Electromyography showed a myopathic pattern and bilateral carpal tunnel syndrome. The muscle biopsy presented with a type I and II fiber hypertrophy and infiltration of amyloid material in the interstitious space and artery walls. She underwent bone marrow transplantation with stabilization and subjective improvement of the clinical picture.

  8. [Target Molecule for a Demyelinating Type of Guillain-Barré Syndrome, Acute Inflammatory Demyelinating Polyneuropathy].

    PubMed

    Mori, Masahiro

    2015-11-01

    Guillain-Barré syndrome is classified into demyelinating type, acute inflammatory demyelinating polyneuropathy (AIDP) and axonal form, acute axonal motor neuropathy (AMAN). It has been clearly established that the target molecule for the former is a ganglioside. In contrast, despite years of effort, the target molecule for the latter has not been identified. Recently, molecules around the nodes of Ranvier have entered the spotlight, and "moesin" was reported to be a target molecule for cytomegalovirus associated-AIDP.

  9. Characterizing Treatable Causes of Small Fiber Polyneuropathy in Gulf War Veterans

    DTIC Science & Technology

    2015-10-01

    diagnosis. In the first year of this study, an Internet-based framework for developing a formal Case Definition of SFPN was developed. Global experts...were invited to participate in a Delphi method process to determine the most reliable markers for SFPN (Case Definition ). We also will determine if...small- fiber polyneuropathy, case definition 16. SECURITY CLASSIFICATION OF: 17. LIMITATION OF ABSTRACT 18. NUMBER OF PAGES 19a. NAME OF

  10. Undiagnosed Small Fiber Polyneuropathy: Is it a Component of Gulf War Illness?

    DTIC Science & Technology

    2012-07-01

    out occult diabetes , which is increasingly prevalent and carries high risk of polyneuropathy. Skin biopsies are performed in our JCAHO-accredited...demonstrated by 2-hour fasting glucose tolerance test that they had impaired glucose tolerance (i.e., pre- diabetes ), as defined by criteria of the American... Diabetes Association. The age distribution of the included subjects is summarized in Table 1. Task 1b: In addition to the adult normal controls

  11. [Macrocytosis, polyneuropathy and posterior column disorders caused by malabsorption of protein-bound vitamin B12].

    PubMed

    Mazure, A; Bieger, R; Lambregts, P C; Wiarda, K S

    1990-03-31

    This case report concerns a patient with a vitamin B12 deficiency and a normal Schilling test, who had macrocytosis of many years' duration and finally polyneuropathy. All known causes of a vitamin B12 deficiency were excluded. When the Schilling test was performed with egg consumption, excretion of vitamin B12 was clearly diminished. It appears highly likely that this vitamin B12 deficiency developed as a result of malabsorption of protein-bound vitamin B12.

  12. Diabetic polyneuropathy, sensory neurons, nuclear structure and spliceosome alterations: a role for CWC22

    PubMed Central

    Kobayashi, Masaki; Chandrasekhar, Ambika; Cheng, Chu; Martinez, Jose A.; Ng, Hilarie; de la Hoz, Cristiane

    2017-01-01

    ABSTRACT Unique deficits in the function of adult sensory neurons as part of their early neurodegeneration might account for progressive polyneuropathy during chronic diabetes mellitus. Here, we provide structural and functional evidence for aberrant pre-mRNA splicing in a chronic type 1 model of experimental diabetic polyneuropathy (DPN). Cajal bodies (CBs), unique nuclear substructures involved in RNA splicing, increased in number in diabetic sensory neurons, but their expected colocalization with survival motor neuron (SMN) proteins was reduced – a mislocalization described in motor neurons of spinal muscular atrophy. Small nuclear ribonucleoprotein particles (snRNPs), also participants in the spliceosome, had abnormal multiple nuclear foci unassociated with CBs, and their associated snRNAs were reduced. CWC22, a key spliceosome protein, was aberrantly upregulated in diabetic dorsal root ganglia (DRG), and impaired neuronal function. CWC22 attenuated sensory neuron plasticity, with knockdown in vitro enhancing their neurite outgrowth. Further, axonal delivery of CWC22 siRNA unilaterally to locally knock down the aberrant protein in diabetic nerves improved aspects of sensory function in diabetic mice. Collectively, our findings identify subtle but significant alterations in spliceosome structure and function, including dysregulated CBs and CWC22 overexpression, in diabetic sensory neurons that offer new ideas regarding diabetic sensory neurodegeneration in polyneuropathy. PMID:28250049

  13. Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)

    PubMed Central

    Hube, Larissa; Dohrn, Maike F.; Karsai, Gergely; Hirshman, Sarah; Van Damme, Philip; Schulz, Jörg B.; Weis, Joachim; Hornemann, Thorsten; Claeys, Kristl G.

    2017-01-01

    Aim Chronic idiopathic axonal polyneuropathy (CIAP) is a slowly progressive, predominantly sensory, axonal polyneuropathy, with no aetiology being identified despite extensive investigations. We studied the potential role of the metabolic syndrome, neurotoxic 1-deoxysphingolipids (1-deoxySLs), microangiopathy and inflammation in sural nerve biopsies. Methods We included 30 CIAP-patients, 28 with diabetic distal symmetrical polyneuropathy (DSPN) and 31 healthy controls. We assessed standardised scales, tested for the metabolic syndrome, measured 1-deoxySLs in plasma, performed electroneurography and studied 17 sural nerve biopsies (10 CIAP; 7 DSPN). Results One third of the CIAP-patients had a metabolic syndrome, significantly less frequent than DSPN-patients (89%). Although the metabolic syndrome was not significantly more prevalent in CIAP compared to healthy controls, hypercholesterolemia did occur significantly more frequent. 1-deoxySLs were significantly and equally elevated in both patient groups compared to healthy controls. Mean basal lamina thickness of small endoneurial vessels and the number of CD68- or CD8-positive cells in biopsies of CIAP- and DSPN-patients did not differ significantly. However, the number of leucocyte-common-antigen positive cells was significantly increased in CIAP. Conclusions A non-significant trend towards a higher occurrence of the metabolic syndrome in CIAP-patients compared to healthy controls was found. 1-deoxySLs were significantly increased in plasma of CIAP-patients. Microangiopathy and an inflammatory component were present in CIAP-biopsies. PMID:28114358

  14. Evaluation of the efficacy of pulsed electromagnetic field in the management of patients with diabetic polyneuropathy

    PubMed Central

    Graak, Vinay; Chaudhary, Sarika; Bal, B. S.; Sandhu, J. S.

    2009-01-01

    AIM: The study was carried out to evaluate and compare the effect of low power, low frequency pulsed electromagnetic field (PEMF) of 600 and 800 Hz, respectively, in management of patients with diabetic polyneuropathy. SETTINGS AND DESIGNS: The study was a randomized controlled trial performed in Guru Nanak Dev University and Medical College, Amritsar, India with different subject experimental design. MATERIALS AND METHODS: Thirty subjects within an age group of 40–68 years with diabetic polyneuropathy stages N1a, N1b, N2a were randomly allocated to groups 1, 2, 3 with 10 subjects in each. Group 1 and 2 were treated with low power 600 and 800-Hz PEMF for 30 min for 12 consecutive days. Group 3 served as control on usual medical treatment of diabetic polyneuropathy (DPN). The subjects with neuropathy due to any cause other than diabetes were excluded. The pain and motor nerve conduction parameters (distal latency, amplitude, nerve conduction velocity) were assessed before and after treatment. STATISTICAL ANALYSIS: Related t-test and unrelated t-test were used for data analysis. RESULTS: Significant reduction in pain and statistically significant (P<0.05) improvement in distal latency and nerve conduction velocity were seen in experimental group 1 and 2. CONCLUSIONS: Low-frequency PEMF can be used as an adjunct in reducing neuropathic pain as well as for retarding the progression of neuropathy in a short span of time. PMID:20142869

  15. Comparison between impairment and disability scales in immune-mediated polyneuropathies.

    PubMed

    Merkies, Ingemar S J; Schmitz, Paul I M; Van Der Meché, Frans G A; Van Doorn, Pieter A

    2003-07-01

    The ability of a scale to detect clinical relevant changes over time, i.e., its "responsiveness," may help clinicians to choose among valid and reliable measures. Therefore, we investigated the responsiveness' rank ordering (best to worse) of six selected valid and reliable scales, namely the Medical Research Council (MRC)-sumscore, sensory-sumscore, grip-strength (Vigorimeter), nine-hole peg, ten-meters walking, and a disability-sumscore, in immune-mediated polyneuropathies. Patients with newly diagnosed Guillain-Barré syndrome (n = 7) or chronic inflammatory demyelinating polyneuropathy (n = 13) were examined over 52 weeks. Responsiveness of each scale was measured using different methods (effect-size, standardized response mean score, Wilcoxon matched-pairs signed-rank, and a newly devised Schmitz's distribution-free responsiveness score), and the obtained scores in each method were plotted against the follow-up period, thus allowing area-under-the-curve calculations (higher area-under-the-curve indicating better responsiveness). Also, longitudinal correlations were performed between the scales' values and patients' own clinical judgments (deteriorated, unchanged, improved) (higher correlation = better responsiveness). A consistent rank ordering was observed in each technique with the disability-sumscore, MRC-sumscore, and Vigorimeter being among the best responsive scales. Hence, the primary use of these measures is suggested in studies of immune-mediated polyneuropathies.

  16. Diabetic polyneuropathy, sensory neurons, nuclear structure and spliceosome alterations: a role for CWC22.

    PubMed

    Kobayashi, Masaki; Chandrasekhar, Ambika; Cheng, Chu; Martinez, Jose A; Ng, Hilarie; de la Hoz, Cristiane; Zochodne, Douglas W

    2017-03-01

    Unique deficits in the function of adult sensory neurons as part of their early neurodegeneration might account for progressive polyneuropathy during chronic diabetes mellitus. Here, we provide structural and functional evidence for aberrant pre-mRNA splicing in a chronic type 1 model of experimental diabetic polyneuropathy (DPN). Cajal bodies (CBs), unique nuclear substructures involved in RNA splicing, increased in number in diabetic sensory neurons, but their expected colocalization with survival motor neuron (SMN) proteins was reduced - a mislocalization described in motor neurons of spinal muscular atrophy. Small nuclear ribonucleoprotein particles (snRNPs), also participants in the spliceosome, had abnormal multiple nuclear foci unassociated with CBs, and their associated snRNAs were reduced. CWC22, a key spliceosome protein, was aberrantly upregulated in diabetic dorsal root ganglia (DRG), and impaired neuronal function. CWC22 attenuated sensory neuron plasticity, with knockdown in vitro enhancing their neurite outgrowth. Further, axonal delivery of CWC22 siRNA unilaterally to locally knock down the aberrant protein in diabetic nerves improved aspects of sensory function in diabetic mice. Collectively, our findings identify subtle but significant alterations in spliceosome structure and function, including dysregulated CBs and CWC22 overexpression, in diabetic sensory neurons that offer new ideas regarding diabetic sensory neurodegeneration in polyneuropathy.

  17. Evidence-based interventional pain medicine according to clinical diagnoses. 18. Painful diabetic polyneuropathy.

    PubMed

    Pluijms, Wouter; Huygen, Frank; Cheng, Jianguo; Mekhail, Nagy; van Kleef, Maarten; Van Zundert, Jan; van Dongen, Robert

    2011-01-01

    In the industrialized world, polyneuropathy induced by diabetes mellitus (DM) is one of the most prevalent forms of neuropathy. Diabetic neuropathy can result from a direct toxic effect of glucose on nerve cells. Additionally, the damage of the nerve structures (central and peripheral) is accompanied by a microvascular dysfunction, which damages the vasa nervorum. More than 80% of the patients with DM-induced polyneuropathy have a distal and symmetric presentation. The initial symptoms are: signs of diminished sensation, burning feet, which may occur particularly during the night and worsen when touched, and tingling sensation in the feet. Attacks of shooting pain may also occur. Proper control of DM is mandatory. Based on the recently published National Institute for Health and Clinical Excellence guidelines, treatment of painful diabetic neuropathy should start with duloxetine or amitriptyline if duloxetine is contraindicated. If pain relief is inadequate, monotherapy with amitriptyline or pregabalin, or combination therapy with amitriptyline and pregabalin should be considered. If pain relief is still insufficient, tramadol instead of or in combination with a second-line agent should be considered. In patients who are unable to take oral medication, topical lidocaine can be considered for localized pain. There are currently four studies showing that spinal cord stimulation can potentially provide pain alleviation for the longer term in patients with painful diabetic polyneuropathy. Complications are mainly implant related, though infections also occur. The available evidence (2 C+) justifies spinal cord stimulation to be considered, preferably study related.

  18. Multiple MAG peptides are recognized by circulating T and B lymphocytes in polyneuropathy and multiple sclerosis.

    PubMed

    Andersson, M; Yu, M; Söderström, M; Weerth, S; Baig, S; Solders, G; Link, H

    2002-05-01

    Abnormal immune responses to myelin associated glycoprotein (MAG), a component of myelin of the central and peripheral nervous system, have been suggested to play a role in the pathogenesis of multiple sclerosis (MS) and certain types of inflammatory polyneuropathy. To identify possible immunodominant MAG peptides in neuroinflammation, we examined T and B cell responses to five selected synthetic MAG peptides and myelin proteins in 21 patients with non-inflammatory polyneuropathy, 26 patients with MS, 10 optic neuritis patients and 17 healthy subjects. Enzyme-linked immunosorbent spot-forming cell assays were adopted, allowing the detection and enumeration of individual antigen responsive T and B cells in body fluids. Patients with polyneuropathy as well as those with MS had elevated levels of T and B cells recognizing MAG and its peptides. Any of the five MAG peptides under study functioned as immunodominant T and/or B cell epitope in individual subjects. None of the MAG peptides elicited a specific disease-associated T or B cell response. The enhanced T and B cell response to myelin components like MAG may play some role in initiation and/or progression of these diseases, but they could also represent secondary responses associated with myelin damage and indicate tolerization rather than autoaggressive immunity.

  19. Evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review).

    PubMed

    England, J D; Gronseth, G S; Franklin, G; Carter, G T; Kinsella, L J; Cohen, J A; Asbury, A K; Szigeti, K; Lupski, J R; Latov, N; Lewis, R A; Low, P A; Fisher, M A; Herrmann, D; Howard, J F; Lauria, G; Miller, R G; Polydefkis, M; Sumner, A J

    2009-01-01

    Distal symmetric polyneuropathy (DSP) is the most common variety of neuropathy. Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence-based guidelines regarding the role of autonomic testing, nerve biopsy, and skin biopsy for the assessment of polyneuropathy. A literature review using MEDLINE, EMBASE, Science Citation Index, and Current Contents was performed to identify the best evidence regarding the evaluation of polyneuropathy published between 1980 and March 2007. Articles were classified according to a four-tiered level of evidence scheme and recommendations were based on the level of evidence. (1) Autonomic testing may be considered in the evaluation of patients with polyneuropathy to document autonomic nervous system dysfunction (Level B). Such testing should be considered especially for the evaluation of suspected autonomic neuropathy (Level B) and distal small fiber sensory polyneuropathy (SFSN) (Level C). A battery of validated tests is recommended to achieve the highest diagnostic accuracy (Level B). (2) Nerve biopsy is generally accepted as useful in the evaluation of certain neuropathies as in patients with suspected amyloid neuropathy, mononeuropathy multiplex due to vasculitis, or with atypical forms of chronic inflammatory demyelinating polyneuropathy (CIDP). However, the literature is insufficient to provide a recommendation regarding when a nerve biopsy may be useful in the evaluation of DSP (Level U). (3) Skin biopsy is a validated technique for determining intraepidermal nerve fiber (IENF) density and may be considered for the diagnosis of DSP, particularly SFSN (Level C). There is a need for additional prospective studies to define more exact guidelines for the evaluation of polyneuropathy.

  20. Early intervention with tafamidis provides long-term (5.5-year) delay of neurologic progression in transthyretin hereditary amyloid polyneuropathy.

    PubMed

    Waddington Cruz, Márcia; Amass, Leslie; Keohane, Denis; Schwartz, Jeffrey; Li, Huihua; Gundapaneni, Balarama

    2016-09-01

    Transthyretin hereditary amyloid polyneuropathy, also traditionally known as transthyretin familial amyloid polyneuropathy (ATTR-FAP), is a rare, relentless, fatal hereditary disorder. Tafamidis, an oral, non-NSAID, highly specific transthyretin stabilizer, demonstrated safety and efficacy in slowing neuropathy progression in early-stage ATTRV30M-FAP in a 1.5-year, randomized, double-blind, placebo-controlled trial, and 1-year open-label extension study, with a second long-term open-label extension study ongoing. Subgroup analysis of the effectiveness of tafamidis in the pivotal study and its open-label extensions revealed a relatively cohesive cohort of patients with mild neuropathy (i.e. Neuropathy Impairment Score for Lower Limbs [NIS-LL] ≤ 10) at the start of active treatment. Early treatment with tafamidis for up to 5.5 years (≥1 dose of tafamidis meglumine 20 mg once daily during the original trial or after switching from placebo in its extension) resulted in sustained delay in neurologic progression and long-term preservation of nutritional status in this cohort. Mean (95% CI) changes from baseline in NIS-LL and mBMI were 5.3 (1.6, 9.1) points and -7.8 (-44.3, 28.8) kg/m(2) × g/L at 5.5 years, respectively. No new safety issues or side effects were identified. These data represent the longest prospective evaluation of tafamidis to date, confirm a favorable safety profile, and underscore the long-term benefits of early intervention with tafamidis.

  1. Early intervention with tafamidis provides long-term (5.5-year) delay of neurologic progression in transthyretin hereditary amyloid polyneuropathy

    PubMed Central

    Waddington Cruz, Márcia; Amass, Leslie; Keohane, Denis; Schwartz, Jeffrey; Li, Huihua; Gundapaneni, Balarama

    2016-01-01

    Abstract Transthyretin hereditary amyloid polyneuropathy, also traditionally known as transthyretin familial amyloid polyneuropathy (ATTR-FAP), is a rare, relentless, fatal hereditary disorder. Tafamidis, an oral, non-NSAID, highly specific transthyretin stabilizer, demonstrated safety and efficacy in slowing neuropathy progression in early-stage ATTRV30M-FAP in a 1.5-year, randomized, double-blind, placebo-controlled trial, and 1-year open-label extension study, with a second long-term open-label extension study ongoing. Subgroup analysis of the effectiveness of tafamidis in the pivotal study and its open-label extensions revealed a relatively cohesive cohort of patients with mild neuropathy (i.e. Neuropathy Impairment Score for Lower Limbs [NIS-LL] ≤ 10) at the start of active treatment. Early treatment with tafamidis for up to 5.5 years (≥1 dose of tafamidis meglumine 20 mg once daily during the original trial or after switching from placebo in its extension) resulted in sustained delay in neurologic progression and long-term preservation of nutritional status in this cohort. Mean (95% CI) changes from baseline in NIS-LL and mBMI were 5.3 (1.6, 9.1) points and −7.8 (−44.3, 28.8) kg/m2 × g/L at 5.5 years, respectively. No new safety issues or side effects were identified. These data represent the longest prospective evaluation of tafamidis to date, confirm a favorable safety profile, and underscore the long-term benefits of early intervention with tafamidis. Trial Registration: ClincalTrials.gov Identifier: NCT00409175, NCT00791492, and NCT00925002. PMID:27494299

  2. Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review).

    PubMed

    England, J D; Gronseth, G S; Franklin, G; Carter, G T; Kinsella, L J; Cohen, J A; Asbury, A K; Szigeti, K; Lupski, J R; Latov, N; Lewis, R A; Low, P A; Fisher, M A; Herrmann, D; Howard, J F; Lauria, G; Miller, R G; Polydefkis, M; Sumner, A J

    2009-01-01

    Distal symmetric polyneuropathy (DSP) is the most common variety of neuropathy. Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence-based guidelines regarding the role of laboratory and genetic tests for the assessment of DSP. A literature review using MEDLINE, EMBASE, Science Citation Index, and Current Contents was performed to identify the best evidence regarding the evaluation of polyneuropathy published between 1980 and March 2007. Articles were classified according to a four-tiered level of evidence scheme and recommendations were based on the level of evidence. (1) Screening laboratory tests may be considered for all patients with polyneuropathy (Level C). Those tests that provide the highest yield of abnormality are blood glucose, serum B(12) with metabolites (methylmalonic acid with or without homocysteine), and serum protein immunofixation electrophoresis (Level C). If there is no definite evidence of diabetes mellitus by routine testing of blood glucose, testing for impaired glucose tolerance may be considered in distal symmetric sensory polyneuropathy (Level C). (2) Genetic testing is established as useful for the accurate diagnosis and classification of hereditary neuropathies (Level A). Genetic testing may be considered in patients with cryptogenic polyneuropathy who exhibit a hereditary neuropathy phenotype (Level C). Initial genetic testing should be guided by the clinical phenotype, inheritance pattern, and electrodiagnostic (EDX) features and should focus on the most common abnormalities, which are CMT1A duplication/HNPP deletion, Cx32 (GJB1), and MFN2 mutation screening. There is insufficient evidence to determine the usefulness of routine genetic testing in patients with cryptogenic polyneuropathy who do not exhibit a hereditary neuropathy phenotype (Level U).

  3. Study of Autophagy and Microangiopathy in Sural Nerves of Patients with Chronic Idiopathic Axonal Polyneuropathy

    PubMed Central

    Samuelsson, Kristin; Osman, Ayman A. M.; Angeria, Maria; Risling, Mårten; Mohseni, Simin; Press, Rayomand

    2016-01-01

    Twenty-five percent of polyneuropathies are idiopathic. Microangiopathy has been suggested to be a possible pathogenic cause of chronic idiopathic axonal polyneuropathy (CIAP). Dysfunction of the autophagy pathway has been implicated as a marker of neurodegeneration in the central nervous system, but the autophagy process is not explored in the peripheral nervous system. In the current study, we examined the presence of microangiopathy and autophagy-related structures in sural nerve biopsies of 10 patients with CIAP, 11 controls with inflammatory neuropathy and 10 controls without sensory polyneuropathy. We did not find any significant difference in endoneurial microangiopathic markers in patients with CIAP compared to normal controls, though we did find a correlation between basal lamina area thickness and age. Unexpectedly, we found a significantly larger basal lamina area thickness in patients with vasculitic neuropathy. Furthermore, we found a significantly higher density of endoneurial autophagy-related structures, particularly in patients with CIAP but also in patients with inflammatory neuropathy, compared to normal controls. It is unclear if the alteration in the autophagy pathway is a consequence or a cause of the neuropathy. Our results do not support the hypothesis that CIAP is primarily caused by a microangiopathic process in endoneurial blood vessels in peripheral nerves. The significantly higher density of autophagy structures in sural nerves obtained from patients with CIAP and inflammatory neuropathy vs. controls indicates the involvement of this pathway in neuropathy, particularly in CIAP, since the increase in density of autophagy-related structures was more pronounced in patients with CIAP than those with inflammatory neuropathy. To our knowledge this is the first report investigating signs of autophagy process in peripheral nerves in patients with CIAP and inflammatory neuropathy. PMID:27662650

  4. Human immunodeficiency virus infection and diffuse polyneuropathy. Implications for rehabilitation medicine.

    PubMed Central

    Mukand, J. A.

    1991-01-01

    Patients at various stages of human immunodeficiency virus (HIV) infection require rehabilitation services. These patients present problems for each of the disciplines in a rehabilitation team, and all team members must confront the psychosocial and ethical issues involved with the disease. Patients with HIV infection may have polyneuropathy with multisystem involvement, including dysphagia, autonomic dysfunction, respiratory failure, bowel and bladder dysfunction, generalized weakness, a painful sensory neuropathy, and depression. Guidelines are presented for determining if inpatient rehabilitation or other settings are appropriate. Case management is a valuable strategy for the rehabilitation of patients with this complicated disorder. PMID:1866948

  5. Successful treatment of chronic inflammatory demyelinating polyneuropathy (CIDP) in systemic lupus erythematosus (SLE) with oral cyclophosphamide.

    PubMed

    Jasmin, R; Sockalingam, S; Shahrizaila, N; Cheah, T-E; Zain, A A; Goh, K-J

    2012-09-01

    Peripheral neuropathy is a known manifestation of systemic lupus erythematosus. However, the association of primary autoimmune inflammatory neuropathies such as chronic inflammatory demyelinating polyneuropathy (CIDP) with SLE is uncommon. We report a 26-year-old man who simultaneously presented with severe CIDP and photosensitive rash, but was unresponsive to intravenous immunoglobulin infusion and continued to progress. He was found to have underlying SLE and improved with combined corticosteroid and immunosuppressive therapy with oral cyclophosphamide. CIDP with underlying SLE may be more resistant to conventional therapy with IVIG, requiring the addition of other immunosuppressive agents.

  6. Serum cytokine and chemokine profiles in patients with chronic inflammatory demyelinating polyneuropathy.

    PubMed

    Beppu, Minako; Sawai, Setsu; Misawa, Sonoko; Sogawa, Kazuyuki; Mori, Masahiro; Ishige, Takayuki; Satoh, Mamoru; Nomura, Fumio; Kuwabara, Satoshi

    2015-02-15

    To identify serum cytokine networks specific to chronic inflammatory demyelinating polyneuropathy (CIDP), serum samples of two subgroups (18 patients with typical CIDP and 12 patients with multifocal acquired demyelinating sensory and motor neuropathy [MADSAM]) were analyzed with multiplex magnetic bead-based cytokine assay. TNF-α, HGF, MIP-1β and IL-1β levels were significantly higher in total CIDP patients than in normal controls. Of these, HGF levels were elevated in typical CIDP patients, but not in MADSAM patients. Patients with high HGF levels showed good responses to steroid treatment. Different cytokine profiles among the CIDP subtypes presumably reflect differences in pathophysiology.

  7. Acute-onset chronic inflammatory demyelinating polyneuropathy with focal segmental glomerulosclerosis.

    PubMed

    Quek, Amy May Lin; Soon, Derek; Chan, Yee Cheun; Thamboo, Thomas Paulraj; Yuki, Nobuhiro

    2014-06-15

    Inflammatory neuropathies have been reported to occur in association with nephrotic syndrome. Their underlying immuno-pathogenic mechanisms remain unknown. A 50-year-old woman concurrently presented with acute-onset chronic inflammatory demyelinating polyneuropathy and nephrotic syndrome secondary to focal segmental glomerulosclerosis. Both neuropathy and proteinuria improved after plasma exchange and steroids. Literature review of cases of concurrent inflammatory neuropathies and nephrotic syndrome revealed similar neuro-renal presentations. This neuro-renal condition may be mediated by autoantibodies targeting myelin and podocytes.

  8. Geospatial association of endemicity of ataxic polyneuropathy and highly cyanogenic cassava cultivars

    PubMed Central

    2013-01-01

    Background Exposure to cyanide from cassava foods is present in communities where ataxic polyneuropathy is endemic. Ataxic polyneuropathy is endemic in coastal parts of southwest and southeast Nigeria, and coastal Newala, south India, but it has been reported in epidemic or endemic forms from Africa, Asia, or Caribbean. This study was done to determine if cyanogenicity of cassava cultivars is higher in lowland than highland areas, and if areas of endemicity of ataxic polyneuropathy colocalize with areas of highest cyanogenicity of cassava. Methods Roots of cassava cultivars were collected from 150 farmers in 32 of 37 administrative areas in Nigeria. Global positioning system was used to determine the location of the roots. Roots were assayed for concentrations of cyanogens. Thin Plate Spline regression was used to produce the contour map of cyanogenicity of the study area. Contour maps of altitude of the endemic areas were produced. Relationship of cyanogenicity of cassava cultivars and altitude, and of locations of areas of high cyanogenicity and areas of endemicity were determined. Results Geometrical mean (95% CI) cyanogen concentration was 182 (142–233) mg HCN eq/kg dry wt for cassava cultivars in areas ≤ 25 m above sea level, but 54 (43–66) mg HCN eq/kg dry wt for areas > 375 m. Non-spatial linear regression of altitude on logarithm transformed concentrations of cyanogens showed highly significant association, (p < 0.0001). Contour map of concentrations of cyanogens in cassava cultivars in Nigeria showed four areas with average concentrations of cassava cyanogens > 250 mg HCN eq/kg dry wt, and one area of moderately high cyanogen concentration > 150 mg HCN eq/kg dry wt. The endemic areas colocalized with areas of highest cassava cyanogenicity in lowland areas close to the Atlantic Ocean. Conclusion This study shows strong geospatial association of areas of endemicity of ataxic polyneuropathy and areas of highest cyanogenicity of

  9. Overview of the pathogenesis and treatment of chronic inflammatory demyelinating polyneuropathy with intravenous immunoglobulins

    PubMed Central

    Mahdi-Rogers, Mohamed; Rajabally, Yusuf A

    2010-01-01

    Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired heterogeneous disorder of immune origin affecting the peripheral nerves, causing motor weakness and sensory symptoms and signs. The precise pathophysiology of CIDP remains uncertain although B and T cell mechanisms are believed to be implicated. Intravenous immunoglobulins (IVIg) have been shown in a number of trials to be an effective treatment for CIDP. IVIg is thought to exert its immunomodulatory effects by affecting several components of the immune system including B-cells, T-cells, macrophages and complement. This article provides an overview of the pathogenesis of CIDP and of its treatment with IVIg. PMID:20376173

  10. Sensory loss, pains, motor deficit and axonal regeneration in length-dependent diabetic polyneuropathy.

    PubMed

    Said, G; Baudoin, D; Toyooka, K

    2008-11-01

    In order to learn more on the occurrence of pains and motor deficit in severe diabetic polyneuropathy we reviewed the data of a series of 30 diabetic patients with an uncommonly severe length-dependent diabetic polyneuropathy (LDDP). Extensive sensory loss predominated with pains and temperature sensations and affected all four limb extremities, anterior trunk in all, plus the top of the scalp in 9 patients and the cauda equina territory in 2. Twenty patients had neuropathic pains. Symptomatic autonomic dysfunction was present in 28/30 patients, mild distal motor deficit in 12 patients, severe in only one. Vibratory sensation was impaired in the lower limbs in 18 patients; position sense in 8. In the 10 nerve biopsy specimens, the density of myelinated axons was reduced to 23 % and that of unmyelinated axons to 8.5 % of control values. Regenerating axons accounted for 32.4 +/- 19.8 % of the myelinated fibres. On teased fibre preparations 13.9 % of fibres were undergoing axonal degeneration, while 29.4 % of fibres showed focal abnormalities of the myelin sheath.We conclude that distal motor deficit occurs only after major loss of sensory fibres in LDDP; the unmyelinated axons are predominantly affected; absence of clinical improvement contrasts with the high proportion of regenerating axons; detection of alteration of pain and temperature sensation in the feet seems the best method for neuropathy screening in diabetic patients.

  11. Intensive care unit acquired weakness in children: Critical illness polyneuropathy and myopathy

    PubMed Central

    Kukreti, Vinay; Shamim, Mosharraf; Khilnani, Praveen

    2014-01-01

    Background and Aims: Intensive care unit acquired weakness (ICUAW) is a common occurrence in patients who are critically ill. It is most often due to critical illness polyneuropathy (CIP) or to critical illness myopathy (CIM). ICUAW is increasingly being recognized partly as a consequence of improved survival in patients with severe sepsis and multi-organ failure, partly related to commonly used agents such as steroids and muscle relaxants. There have been occasional reports of CIP and CIM in children, but little is known about their prevalence or clinical impact in the pediatric population. This review summarizes the current understanding of pathophysiology, clinical presentation, diagnosis and treatment of CIP and CIM in general with special reference to published literature in the pediatric age group. Subjects and Methods: Studies were identified through MedLine and Embase using relevant MeSH and Key words. Both adult and pediatric studies were included. Results: ICUAW in children is a poorly described entity with unknown incidence, etiology and unclear long-term prognosis. Conclusions: Critical illness polyneuropathy and myopathy is relatively rare, but clinically significant sequelae of multifactorial origin affecting morbidity, length of intensive care unit (ICU) stay and possibly mortality in critically ill children admitted to pediatric ICU. PMID:24678152

  12. [Opportunities for confocal and laser biomicroscopy of corneal nerves in diabetic polyneuropathy].

    PubMed

    Surnina, Z V

    2015-01-01

    The review concerns corneal nerves involvement in diabetes mellitus (DM), a pressing issue for ophthalmology and endocrinology. The history of research in this field along with anatomical, physiological, and biochemical features of corneal nerves is provided. Corneal nerves anatomy is described in accordance with Soviet scientific school and contemporary foreign sources. The most part of the paper is devoted to technical description of a confocal microscope and Heidelberg Retina Tomograph with corneal module as well as the feasibility of corneal nerves visualization. Diabetic neuropathy, a threatening complication of DM that can result in lower limb amputations, is discussed. A number of authors suggest confocal biomicroscopy for early diagnosis of polyneuropathy, yet few relevant publications can be found. If effective, confocal biomicroscopy can be considered as a possible screening tool able to detect early signs of diabetes complications and thus to ensure the treatment initiated in a timely manner. The latter is crucial to prevent DM progression to its terminal stage--diabetic polyneuropathy, which is dangerous of lower limb amputations.

  13. Basement membrane reduplication and pericyte degeneration precede development of diabetic polyneuropathy and are associated with its severity.

    PubMed

    Giannini, C; Dyck, P J

    1995-04-01

    In a recent paper, we showed that the number of endoneurial microvessels per square millimeter and the average luminal area and size distribution of these microvessels are not significantly different in sural nerves of patients with diabetes mellitus as compared to control subjects. Mural area, especially the component due to basement membrane reduplication and cellular debris, was unequivocally increased in diabetes mellitus. Because these latter changes are associated with a decrease in periendothelial cell area, we hypothesized that cellular degeneration, especially of pericytes, may account for basement membrane reduplication and increased frequency of cellular debris. In the present study, we showed that endoneurial microvessels undergo a statistically significant increase in basement membrane area, mural area, and frequency of cellular debris in diabetics without polyneuropathy and an even greater increase in diabetics with polyneuropathy. We also found that duration of diabetes mellitus was significantly associated with area occupied by reduplicated basement membrane and cellular debris, but not with mural and periendothelial area. None of the examined measurements was associated with age. Since the microvessel abnormalities we describe are already present before the development of polyneuropathy and increase with severity of polyneuropathy, it is likely that they reflect functional derangements of pericytes and microvessel function which precede and might be implicated in fiber degeneration.

  14. [Chronic inflammatory demyelinating polyneuropathy after treatment with pegylated interferon alpha 2b in a patient with HIV/HCV coinfection: case report].

    PubMed

    Bassetti, Bil Randerson; Trés, Eduardo Sturzeneker; Ciríaco, Jovana Gobbi Marchesi; Pinto Neto, Lauro Ferreira Silva

    2010-01-01

    Chronic inflammatory demyelinating polyneuropathy has a strong association with HIV and HCV infection. A rare association between chronic inflammatory demyelinating polyneuropathy and hepatitis C treatment with pegylated interferon alpha was described recently. We described the first case of chronic inflammatory demyelinating polyneuropathy associated with pegylated interferon alpha 2b in a white man infected with HIV and HCV. The patient recovered completely with the use of intravenous hyperimmune immunoglobulin. Infectologists and hepatologists should be alert regarding this rare and serious association, which requires immediately drug discontinuation and early treatment.

  15. A deletion in the N-myc downstream regulated gene 1 (NDRG1) gene in Greyhounds with polyneuropathy.

    PubMed

    Drögemüller, Cord; Becker, Doreen; Kessler, Barbara; Kemter, Elisabeth; Tetens, Jens; Jurina, Konrad; Jäderlund, Karin Hultin; Flagstad, Annette; Perloski, Michele; Lindblad-Toh, Kerstin; Matiasek, Kaspar

    2010-06-22

    The polyneuropathy of juvenile Greyhound show dogs shows clinical similarities to the genetically heterogeneous Charcot-Marie-Tooth (CMT) disease in humans. The pedigrees containing affected dogs suggest monogenic autosomal recessive inheritance and all affected dogs trace back to a single male. Here, we studied the neuropathology of this disease and identified a candidate causative mutation. Peripheral nerve biopsies from affected dogs were examined using semi-thin histology, nerve fibre teasing and electron microscopy. A severe chronic progressive mixed polyneuropathy was observed. Seven affected and 17 related control dogs were genotyped on the 50k canine SNP chip. This allowed us to localize the causative mutation to a 19.5 Mb interval on chromosome 13 by homozygosity mapping. The NDRG1 gene is located within this interval and NDRG1 mutations have been shown to cause hereditary motor and sensory neuropathy-Lom in humans (CMT4D). Therefore, we considered NDRG1 a positional and functional candidate gene and performed mutation analysis in affected and control Greyhounds. A 10 bp deletion in canine NDRG1 exon 15 (c.1080_1089delTCGCCTGGAC) was perfectly associated with the polyneuropathy phenotype of Greyhound show dogs. The deletion causes a frame shift (p.Arg361SerfsX60) which alters several amino acids before a stop codon is encountered. A reduced level of NDRG1 transcript could be detected by RT-PCR. Western blot analysis demonstrated an absence of NDRG1 protein in peripheral nerve biopsy of an affected Greyhound. We thus have identified a candidate causative mutation for polyneuropathy in Greyhounds and identified the first genetically characterized canine CMT model which offers an opportunity to gain further insights into the pathobiology and therapy of human NDRG1 associated CMT disease. Selection against this mutation can now be used to eliminate polyneuropathy from Greyhound show dogs.

  16. Curcumin: A multi-target disease-modifying agent for late-stage transthyretin amyloidosis

    PubMed Central

    Ferreira, Nelson; Gonçalves, Nádia P.; Saraiva, Maria J.; Almeida, Maria R.

    2016-01-01

    Transthyretin amyloidoses encompass a variety of acquired and hereditary diseases triggered by systemic extracellular accumulation of toxic transthyretin aggregates and fibrils, particularly in the peripheral nervous system. Since transthyretin amyloidoses are typically complex progressive disorders, therapeutic approaches aiming multiple molecular targets simultaneously, might improve therapy efficacy and treatment outcome. In this study, we evaluate the protective effect of physiologically achievable doses of curcumin on the cytotoxicity induced by transthyretin oligomers in vitro by showing reduction of caspase-3 activity and the levels of endoplasmic reticulum-resident chaperone binding immunoglobulin protein. When given to an aged Familial Amyloidotic Polyneuropathy mouse model, curcumin not only reduced transthyretin aggregates deposition and toxicity in both gastrointestinal tract and dorsal root ganglia but also remodeled congophilic amyloid material in tissues. In addition, curcumin enhanced internalization, intracellular transport and degradation of transthyretin oligomers by primary macrophages from aged Familial Amyloidotic Polyneuropathy transgenic mice, suggesting an impaired activation of naïve phagocytic cells exposed to transthyretin toxic intermediate species. Overall, our results clearly support curcumin or optimized derivatives as promising multi-target disease-modifying agent for late-stage transthyretin amyloidosis. PMID:27197872

  17. Erythromelalgia-like presentation of chronic acquired demyelinating polyneuropathy in a setting of past alcohol abuse.

    PubMed

    Chuquilin, Miguel; Dhand, Upinder K

    2016-02-01

    Erythromelalgia may be primary or secondary to an underlying medical condition. Association with small fiber neuropathy and axonal large fiber peripheral neuropathy has been described. Erythromelalgia in the setting of acquired demyelinating neuropathy has not been reported. We report a 52-year-old woman with severe erythromelalgia, pain and burning, progressive weakness, hyporeflexia and distal pan-sensory deficits. Cerebrospinal fluid protein was 219 mg/dL. Nerve conduction study revealed extreme (ten-fold) prolongation of distal motor latencies, markedly slow motor nerve conduction, reduced terminal latency index, reduced distal compound muscle action potential (CMAP) amplitude, possible conduction blocks, and distal denervation. Treatment with intravenous immunoglobulin, prednisone and azathioprine resulted in marked clinical and electrophysiological improvement. Our patient fulfills the diagnostic criteria for chronic inflammatory demyelinating polyneuropathy (CIDP); however, the unique electrodiagnostic features and presentation with erythromelalgia may represent a CIDP variant or a novel dysimmune neuropathy, or may partly be related to neurotoxic effects of prior alcohol abuse.

  18. Treatment of pediatric chronic inflammatory demyelinating polyneuropathy: Challenges, controversies and questions.

    PubMed

    Desai, Jay; Ramos-Platt, Leigh; Mitchell, Wendy G

    2015-01-01

    Pediatric chronic inflammatory demyelinating polyneuropathy (CIDP) is an uncommon acquired disorder of unknown cause, presumed to have an immunological basis. We report 20 patients seen at Children's Hospital Los Angeles over a period of 10 years. The outcome of our patients was favorable in a vast majority with good response to various treatments instituted. However, residual neurologic deficit was common. The choice of treatment modality was empirical and selected by the treating neurologist. Intravenous immunoglobulin (IVIG) and corticosteroids were most commonly utilized for treatment. Plasmapheresis, mycophenolate mofetil, rituximab, cyclophosphamide, azathioprine, and abatacept were added if the patients were refractory to IVIG or became corticosteroid dependent. The spectrum of disease severity ranged from a single monophasic episode, to multiphasic with infrequent relapses with good response to IVIG, to progressive disease refractory to multiple therapies.

  19. [Anesthetic management of a Dialysis Patient with Chronic Inflammatory Demyelinating Polyneuropathy].

    PubMed

    Takahashi, Yoshihiro; Hara, Koji; Sata, Takeyoshi

    2015-11-01

    We report the successful management of anesthesia in a 46-year-old male dialysis patient with chronic inflammatory demyelinating polyneuropathy (CIDP). He underwent an osteosynthesis of the ankle joint using general anesthesia combined with epidural anesthesia. The anesthetic concerns in patients with CIDP are the possibility of postoperative respiratory dysfunction due to anesthetics or muscle relaxants and that of postoperative neurological deterioration due to spinal or epidural anesthesia. In this case, sevoflurane (1.5-2%) did not cause respiratory dysfunction postoperatively and muscle relaxant effect of rocuronium was effectively reversed by sugammadex. Epidural anesthesia using ropivacaine (0.2-0.375%) and fentanyl did not worsen the neurological symptoms of CIDP post-operatively.

  20. Intravenous immunoglobulin inhibits BAFF production in chronic inflammatory demyelinating polyneuropathy - a new mechanism of action?

    PubMed

    Bick, Sandra; Tschernatsch, Marlene; Karg, Anne; Fuehlhuber, Verena; Trenczek, Tina E; Faltermeier, Kathrin; Hackstein, Holger; Kaps, Manfred; Blaes, Franz

    2013-03-15

    Chronic-inflammatory demyelinating polyneuropathy (CIDP) is an immune-mediated disease treated with intravenous immunoglobulin (IVIg). The underlying mechanism of action remains incompletely understood. The B-cell activating factor BAFF contributes to B-cell homeostasis and (auto-)antibody production. BAFF was recently identified as one key molecule in the development of autoimmune diseases. Herein, we demonstrate that BAFF serum levels are elevated in CIDP patients. IVIg treatment resulted in a significant decrease of BAFF serum level. In vitro, IVIg inhibited BAFF in monocytes. Consequently, we identified BAFF as a new target for IVIg in CIDP treatment and provide a new, Fcγ-receptor independent, mechanism of action for IVIg.

  1. Office immunotherapy in chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy.

    PubMed

    Dyck, Peter J; Taylor, Bruce V; Davies, Jenny L; Mauermann, Michelle L; Litchy, William J; Klein, Christopher J; Dyck, P James B

    2015-10-01

    Intravenous immunoglobulin [IVIg], plasma exchange [PE], and corticosteroids are efficacious treatment in chronic inflammatory demyelinating polyneuropathy [CIDP]. IVIg is effective in multifocal motor neuropathy [MMN]. NIS, NIS-weakness, sum scores of raw amplitudes of motor fiber (CMAPs) amplitudes, and Dyck/Rankin score provided reliable measures to detect and scale abnormality and reflect change; they are therefore ideal for office management of response-based immunotherapy (R-IRx) of CIDP. Using efficacious R-IRx, a large early and late therapeutic response (≥ one-fourth were in remission or had recovered) was demonstrated in CIDP. In MMN only an early improvement with late non-significant worsening was observed. The difference in immunotherapy response supports a fundamental difference between CIDP (immune attack on Schwann cells and myelin) and MMN (attack on nodes of Ranvier and axons).

  2. IVIG regulates BAFF expression in patients with chronic inflammatory demyelinating polyneuropathy (CIDP).

    PubMed

    Ritter, Christian; Förster, Dominik; Albrecht, Philipp; Hartung, Hans-Peter; Kieseier, Bernd C; Lehmann, Helmar C

    2014-09-15

    Recent studies indicate that the cytokine B-cell activating factor (BAFF) is involved in the pathogenesis of chronic inflammatory demyelinating polyneuropathy (CIDP). Intravenous immunoglobulin (IVIg) is standard treatment for CIDP and is known to rapidly modulate increased serum levels of pro-inflammatory cytokines. We evaluated the expression profile of BAFF and its corresponding BAFF-receptor in samples from CIDP patients, focusing on rapid changes before and after IVIg treatment. In CIDP patients BAFF serum concentrations were elevated compared to controls. Treatment with high-dose IVIg restored those elevated BAFF serum levels. Whereas treatment with IVIg did not affect BAFF production in monocytes, antibodies against BAFF could be detected in IVIg preparations, which may explain the short-term decrease of BAFF levels after IVIg treatment. Our data suggest that BAFF plays an important role in the pathogenesis of CIDP and may serve as marker for IVIg treatment response.

  3. Classical and lectin complement pathway activity in polyneuropathy associated with IgM monoclonal gammopathy.

    PubMed

    Stork, Abraham C J; Cats, Elisabeth A; Vlam, Lotte; Heezius, Erik; Rooijakkers, Suzan; Herpers, Bjorn; de Jong, Ben A W; Rijkers, Ger; van Strijp, Jos; Notermans, Nicolette C; van den Berg, Leonard H; van der Pol, W-Ludo

    2016-01-15

    Polyneuropathy associated with IgM monoclonal gammopathy (IgM-PNP) is a slowly progressive, sensorimotor neuropathy. It is assumed that complement activation contributes to IgM-PNP pathogenesis. We investigated whether innate differences in complement activity of the classical and mannose binding lectin (MBL) pathways are associated with IgM-PNP or its severity. We measured complement activity using ELISA and determined MBL serumc oncentrations and MBL gene polymorphisms in 83 patients and 83 healthy controls. We did not observe differences between IgM-PNP patients and healthy controls nor associations with different disease severities. Differences in innate complement activity are not likely to explain susceptibility to or severity of IgM-PNP.

  4. Marchiafava-Bignami and Alcohol Related Acute Polyneuropathy: The Cooccurrence of Two Rare Entities

    PubMed Central

    Boloursaz, Samine; Nekooei, Sirous; Seilanian Toosi, Farrokh; Rezaei-Dalouei, Hossein; Davachi, Behrooz; Kazemi, Sahar

    2016-01-01

    Objectives. The aim of this article is to represent the first reported case with cooccurrence of two rare alcohol related complications. Case Report. We report a 38-year-old man with chronic alcoholism who presented with both cranial and peripheral nerve palsy. On MRI examination characteristic findings of Marchiafava-Bignami disease were recognized. Discussion. Marchiafava-Bignami disease (MBD) is a rare complication of long-term, heavy alcohol abuse that has characteristic MRI findings. Acute alcohol related polyneuropathy (AARP) is another rare and not-well-understood complication of chronic alcohol abuse. We could not find any previous report of the cooccurrence of these two complications in the literature. PMID:27668107

  5. Distal polyneuropathy after canine heartworm disease therapy complicated by disseminated intravascular coagulation.

    PubMed

    Dillon, A R; Braund, K G

    1982-08-01

    A 3-year-old male Setter-type dog had a progressive distal sensorimotor polyneuropathy characterized by weakness, bilateral atrophy of distal appendicular musculature, and reduced response to tactile stimuli. The diagnosis of a distal axonopathy was supported by electromyographic findings of fibrillation potentials, positive sharp waves in distal limb muscles, and absence of evoked action potentials, myopathic changes of atrophic angular fibers, and myelinated nerve fiber depletion in distal parts of peripheral nerves. The neuropathy appeared 5 weeks after 38 days of heparin therapy for disseminated intravascular coagulation. The disseminated intravascular coagulation, a complication of thiacetarsamide therapy for heartworm disease, had resolved 40 days after the end of heparin therapy. The cause of the neuropathy was not determined.

  6. Polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes (POEMS syndrome): a paraneoplastic syndrome

    PubMed Central

    Kumar, Sunil; Sharma, Shruti

    2015-01-01

    POEMS syndrome (Crow–Fukase syndrome) is a rare paraneoplastic disorder. It is characterized by peripheral neuropathy, elevated vascular endothelial growth factors (VEGFs), monoclonal gammopathy, sclerotic bone lesions and Castleman disease. Other important clinical features are organomegaly, edema, ascites, papilledema, endocrinopathy, skin changes and thrombocytosis. A high index of suspicion, a detailed clinical history and examination followed by appropriate laboratory investigations like VEGF level, radiological skeletal survey and bone marrow biopsy are required to diagnose POEMS syndrome. We report a case of POEMS syndrome who presented with insidious onset, progressive sensorimotor polyneuropathy, pedal edema, ascites, hepatomegaly, skin changes and hypothyroidism. X-ray of the pelvis showed osteosclerotic lesions. Immunoelectrophoresis using the immunofixation method revealed lambda chain monoclonal gammopathy. The patient was given radiotherapy, followed by a combination therapy of melphalan and dexamethasone. We emphasize the importance of recognizing a challenging diagnosis of a rare disease, which is shown to be treatment responsive. PMID:26634133

  7. Unilateral Cervical Polyneuropathies following Concurrent Bortezomib, Cetuximab, and Radiotherapy for Head and Neck Cancer.

    PubMed

    Elghouche, Alhasan; Shokri, Tom; Qin, Yewen; Wargo, Susannah; Citrin, Deborah; Van Waes, Carter

    2016-01-01

    We report a constellation of cervical polyneuropathies in a patient treated with concurrent bortezomib, cetuximab, and cisplatin alongside intensity modulated radiotherapy for carcinoma of the tonsil with neck metastasis. The described deficits include brachial plexopathy, cervical sensory neuropathy, and oculosympathetic, recurrent laryngeal, and phrenic nerve palsies within the ipsilateral radiation field. Radiation neuropathy involving the brachial plexus is typically associated with treatment of breast or lung cancer; however, increased awareness of this entity in the context of investigational agents with potential neuropathic effects in head and neck cancer has recently emerged. With this report, we highlight radiation neuropathy in the setting of investigational therapy for head and neck cancer, particularly since these sequelae may present years after therapy and entail significant and often irreversible morbidity.

  8. An Unfortunate Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Change (POEMS)

    PubMed Central

    Otoya, Jorge; Bunting, Samantha F; Chaaya, Gerard

    2017-01-01

    POEMS syndrome is an acronym for polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes, which is a rare paraneoplastic disease of monoclonal plasma cells. A mandatory criterion to diagnose POEMS syndrome is the presence of a monoclonal plasma cell dyscrasia in which plasma cell leukemia is the most aggressive form. Early identification of the features of the POEMS syndrome is critical for patients to identify an underlying plasma cell dyscrasias and to reduce the morbidity and mortality of the disease by providing early therapy. We present a case of a 64-year-old male who presented with non-specific symptoms and was found to have primary plasma cell leukemia, which was part of his unfortunate POEMS syndrome.

  9. Treatment of Chronic Inflammatory Demyelinating Polyneuropathy: From Molecular Bases to Practical Considerations

    PubMed Central

    Ripellino, Paolo; Fleetwood, Thomas; Cantello, Roberto; Comi, Cristoforo

    2014-01-01

    Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune disease of the peripheral nervous system, in which both cellular and humoral immune responses are involved. The disease is clinically heterogeneous with some patients displaying pure motor form and others also showing a variable degree of sensory dysfunction; disease evolution may also differ from patient to patient, since monophasic, progressive, and relapsing forms are reported. Underlying such clinical variability there is probably a broad spectrum of molecular dysfunctions that are and will be the target of therapeutic strategies. In this review we first explore the biological bases of current treatments and subsequently we focus on the practical management that must also take into account pharmacoeconomic issues. PMID:24527207

  10. Office Immunotherapy in Chronic Inflammatoryh Demyelinating Polyneuropathy and Multifocal Motor Neuropathy

    PubMed Central

    Dyck, Peter J.; Taylor, Bruce V.; Davies, Jenny L.; Mauermann, Michelle L.; Litchy, William J.; Klein, Christopher J.; Dyck, P. James B.

    2015-01-01

    Background Intravenous immunoglobulin [IVIg], plasma exchange [PE], and corticosteroids are efficacious treatment in chronic inflammatory demyelinating polyneuropathy [CIDP]. IVIg is effective in multifocal motor neuropathy [MMN]. Objective and Methods Results and Conclusions NIS, NIS-weakness, sum scores of raw amplitudes of motor fiber (CMAPs) amplitudes, and Dyck/Rankin score provided reliable measures to detect and scale abnormality and reflect change; they are therefore ideal for office management of response-basedimmunotherapy (R-IRx) of CIDP. Using efficacious R-IRx, a large early and late therapeutic response (≥ one-fourth were in remission or had recovered) was demonstrated in CIDP. In MMN only an early improvement with late non-significant worsening was observed. The difference in immunotherapy response supports a fundamental difference between CIDP (immune attack on Schwann cells and myelin) and MMN (attack on nodes of Ranvier and axons). PMID:25976871

  11. [The "pseudo-polyneuropathy" type sensory disturbances in cervical spondylotic myelopathy].

    PubMed

    Yoshiyama, Y; Tokumaru, Y; Hattori, T; Hirayama, K

    1995-02-01

    We reported the pseudo-polyneuropathy type sensory disturbances in cervical spondylotic myelopathy. We defined this clinical type by objective superficial sensory deficits of all four distal limbs, and excluded the patients having only subjective sensory disturbances. Ten out of 61 patients with cervical spondylotic myelopathy had sensory disturbances of this type. Two patients noticed difference of the subjective sensations of the upper and lower limbs. Eight patients developed sensory symptoms initially in the upper limbs. Pin-prick sensation was diminished in the upper limbs more predominantly than in the lower limbs. Vibration sense was affected in the lower limbs predominantly. Motor functions were mildly impaired, and muscle stretch reflex of triceps brachii was preserved in all ten patients. Distribution of sensory disturbances of four patients changed in their course. Nerve conduction studies and F-wave latencies were normal. Electromyography showed mild chronic denervation of the C5-C7 innervated muscles. Somatosensory evoked potentials after median or ulnar nerve stimulation showed delayed latencies or attenuated waveforms of N13 as well as P14 peaks. Spinal cord was compressed mainly at C4/5 and C5/6 intervertebral level, shown by myelography, CT-myelography or magnetic resonance imagings. We conclude that the pseudo-polyneuropathy type sensory disturbance of cervical spondylotic myelopathy indicates the lesion at mid-to-low cervical vertebral level. The anatomical substrates for this type of sensory impairment could be caused by combination of the dorsal horn/anterior comissure lesions for the upper limbs, and the anterolateral funiculi lesions for the lower limbs.

  12. Urinary excretion of 2,5-hexanedione and peripheral polyneuropathies in workers exposed to hexane

    SciTech Connect

    Governa, M.; Calisti, R.; Coppa, G.; Tagliavento, G.; Colombi, A.; Troni, W.

    1987-01-01

    Forty shoe factory workers who were exposed to hexane were investigated to see if there was a correlation between electroneuromyographic changes indicative of neuropathy and urinary excretion of 2,5-hexanedione. Urinary samples were analyzed for the presence of the metabolic products of n-hexane and its isomers. Electrodiagnostic examination was carried out following the urinary sampling. A rating scale was used to obtain a cumulative numeric index of electrodiagnostic findings. 2,5-Hexanedione and ..gamma..-valerolactone were discovered in all cases, while 2-hexanol was found in 11 cases. 2,5-Hexanedione was the main metabolite in most cases (39 of 40). Only in 1 case was a low level of 2-methyl-2-pentanol detected; 3-methyl-2-pentanol was never detected. Metabolic products of cyclohexane were present in about one-fifth of the cases, while trichloroethanol, a metabolic product of trichloroethylene, was nearly always present, all at very low concentrations. Electromyographic abnormalities significant for early detection of toxic polyneuropathy were found in 14 cases. A statistically significant correlation of the electroneuromyographic scoring on the urinary concentrations of measured metabolites was observed only with 2,5-hexanedione and ..gamma..-valerolactone, both derived from n-hexane. Since ..gamma..-valerolactone is probably not a true metabolite of n-hexane, the authors results support the hypothesis that polyneuropathies in shoemakers are due to 2,5-hexanedione. For practical purposes the urinary concentration of 2,5-hexanedione can serve as a predictive measurement for early detection of neurotoxic lesions at preclinical states.

  13. Imipramine and pregabalin combination for painful polyneuropathy: a randomized controlled trial.

    PubMed

    Holbech, Jakob V; Bach, Flemming W; Finnerup, Nanna B; Brøsen, Kim; Jensen, Troels S; Sindrup, Søren H

    2015-05-01

    Monotherapy with first-line drugs for neuropathic pain often fails to provide sufficient pain relief or has unacceptable side effects because of the need for high doses. The aim of this trial was to test whether the combination of imipramine and pregabalin in moderate doses would relieve pain more effectively than monotherapy with either of the drugs. This was a randomized, double-blind, placebo-controlled, crossover, multicenter trial consisting of four 5-week treatment periods in patients with painful polyneuropathy. Treatment arms were imipramine 75 mg/d vs pregabalin 300 mg/d vs combination therapy vs placebo. Patients with polyneuropathy and symptoms for more than 6 months, age 20 to 85 years, pain intensity ≥4 on a 0- to 10-point numeric rating scale (NRS) and pain at least 4 days a week were included in the trial. A total of 262 patients were screened for participation, 73 patients were randomized, and 69 patients were included in the data analysis. The effect on average pain in comparison with placebo was: combination (-1.67 NRS points, P < 0.001), imipramine (-1.08 NRS points, P < 0.001), and pregabalin (-0.48 NRS points, P = 0.03). The combination therapy had significantly lower pain scores than both monotherapies: combination vs imipramine (P = 0.009), combination vs pregabalin (P < 0.001). During combination therapy, the dropout rate was higher and the patients reported a higher rate and severity of side effects. Combination of moderate doses of the tricyclic antidepressant imipramine and pregabalin could be considered as an alternative to high-dosage monotherapy. However, the trial also emphasized that balance between efficacy and safety is an issue.

  14. "H" reflex as a measure of subclinical uremic polyneuropathy in children with chronic renal failure.

    PubMed

    Mendoza-Guevara, L; Cervantes, A; Aguilar-Kitsu, A; Rendon, E; Morales, A; Rodriguez, F; Castro, F; Flores, M; Jaramillo, R M; Garcia-Lopez, E

    1997-01-01

    Uremic polyneuropathy (UPNP) is a serious complication of chronic renal failure (CRF) in adults; however, its prevalence is unknown in the pediatric population. An easy-to-perform maneuver for its detection in children is the evaluation of "H" reflex. The objective of this study was to validate the usefulness of the "H" reflex maneuver for the diagnosis of UPNP in pediatric dialysis patients for CRF. Thirty-seven CRF patients were paired with healthy controls by age and sex. The patients were being treated with dialysis or one of its variants. Information was obtained regarding diagnosis, duration, and control of dialysis. Neurological examination was performed, conduction velocities in sensory and motor nerves were measured, and "H" reflex elicited bilaterally. Peripheral polyneuropathy was determined by the presence of at least two nerves with alterations in latency and/or conduction velocities. It was found that 59.4% (22/37) of the children with CRF treated with dialysis developed UPNP, 17 with ambulatory peritoneal dialysis, and 5 with hemodialysis. There was no difference in diagnosis, duration of dialysis, or control of the same in these patients from other CRF patients who did not have UPNP. All patients were clinically asymptomatic. "H" reflex showed a sensibility of 44%, a specificity of 87%, a predictive value positive of 66%, and a predictive value negative of 76%, when measured to 28 msec. With a 30 msec duration specificity rises to 95%. UPNP presents asymptomatically in pediatric patients. "H" reflex is an adequate screening test for the selection of pediatric patients to be tested further.

  15. Comparison of diabetes patients with “demyelinating” diabetic sensorimotor polyneuropathy to those diagnosed with CIDP

    PubMed Central

    Dunnigan, Samantha K; Ebadi, Hamid; Breiner, Ari; Katzberg, Hans D; Lovblom, Leif E; Perkins, Bruce A; Bril, Vera

    2013-01-01

    Background We have previously identified a subset of diabetic sensorimotor polyneuropathy (DSP) patients with probable demyelination related to poor glycemic control. We aimed to determine whether the clinical characteristics and electrodiagnostic classification of nerve injury in diabetes patients with “demyelinating” DSP (D-DSP) differed from those diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) (CIDP + diabetes mellitus [DM]). Methods D-DSP (56) and CIDP + DM (67) subjects underwent clinical examination and nerve conduction studies (NCS), and were compared using analysis of variance, contingency tables, and Kruskal–Wallis analyses. Results Of the 123 subjects with a mean age of 60.5 ± 15.6 years and mean hemoglobin A1c (HbA1c) of 8.2 ± 2.2%, 54% had CIDP + DM and 46% had D-DSP. CIDP + DM subjects were older (P = 0.0003), had shorter duration of diabetes (P = 0.005), and more severe neuropathy as indicated by Toronto Clinical Neuropathy Score (TCNS) (P = 0.003), deep tendon reflexes (P = 0.02), and vibration perception thresholds (VPT) (P = 0.01, P = 0.02). The mean HbA1c value for D-DSP subjects (8.9 ± 2.3%) was higher than in CIDP + DM subjects (7.7 ± 2.0%, P = 0.02). Conclusions The clinical phenotype and electrophysiological profile of CIDP + DM patients is marked by more severe neuropathy and better glycemic control than in patients with D-DSP. These findings indicate that these two conditions – despite similarities in their electrophysiological pattern of demyelination – likely differ in etiology. PMID:24363969

  16. Distal symmetrical polyneuropathy: a definition for clinical research. A report of the American Academy of Neurology, the American Association of Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation.

    PubMed

    England, John D; Gronseth, Gary S; Franklin, Gary; Miller, Robert G; Asbury, Arthur K; Carter, Gregory T; Cohen, Jeffrey A; Fisher, Morris A; Howard, James F; Kinsella, Laurence J; Latov, Norman; Lewis, Richard A; Low, Phillip A; Sumner, Austin J

    2005-01-01

    The objective of this report was to develop a case definition of "distal symmetrical polyneuropathy" to standardize and facilitate clinical research and epidemiologic studies. A formalized consensus process was employed to reach agreement after a systematic review and classification of evidence from the literature. The literature indicates that symptoms alone have relatively poor diagnostic accuracy in predicting the presence of polyneuropathy; signs are better predictors of polyneuropathy than symptoms; and single abnormalities on examination are less sensitive than multiple abnormalities in predicting the presence of polyneuropathy. The combination of neuropathic symptoms, signs, and electrodiagnostic findings provides the most accurate diagnosis of distal symmetrical polyneuropathy. A set of case definitions was rank ordered by likelihood of disease. The highest likelihood of polyneuropathy (useful for clinical trials) occurs with a combination of multiple symptoms, multiple signs, and abnormal electrodiagnostic studies. A modest likelihood of polyneuropathy (useful for field or epidemiologic studies) occurs with a combination of multiple symptoms and multiple signs when the results of electrodiagnostic studies are not available. A lower likelihood of polyneuropathy occurs when electrodiagnostic studies and signs are discordant. For research purposes, the best approach to defining distal symmetrical polyneuropathy is a set of case definitions rank ordered by estimated likelihood of disease. The inclusion of this formalized case definition in clinical and epidemiologic research studies will ensure greater consistency of case selection.

  17. Distal symmetric polyneuropathy: a definition for clinical research: report of the American Academy of Neurology, the American Association of Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation.

    PubMed

    England, J D; Gronseth, G S; Franklin, G; Miller, R G; Asbury, A K; Carter, G T; Cohen, J A; Fisher, M A; Howard, J F; Kinsella, L J; Latov, N; Lewis, R A; Low, P A; Sumner, A J

    2005-01-25

    The objective of this report was to develop a case definition of distal symmetric polyneuropathy to standardize and facilitate clinical research and epidemiologic studies. A formalized consensus process was employed to reach agreement after a systematic review and classification of evidence from the literature. The literature indicates that symptoms alone have relatively poor diagnostic accuracy in predicting the presence of polyneuropathy; signs are better predictors of polyneuropathy than symptoms; and single abnormalities on examination are less sensitive than multiple abnormalities in predicting the presence of polyneuropathy. The combination of neuropathic symptoms, signs, and electrodiagnostic findings provides the most accurate diagnosis of distal symmetric polyneuropathy. A set of case definitions was rank ordered by likelihood of disease. The highest likelihood of polyneuropathy (useful for clinical trials) occurs with a combination of multiple symptoms, multiple signs, and abnormal electrodiagnostic studies. A modest likelihood of polyneuropathy (useful for field or epidemiologic studies) occurs with a combination of multiple symptoms and multiple signs when the results of electrodiagnostic studies are not available. A lower likelihood of polyneuropathy occurs when electrodiagnostic studies and signs are discordant. For research purposes, the best approach to defining distal symmetric polyneuropathy is a set of case definitions rank ordered by estimated likelihood of disease. The inclusion of this formalized case definition in clinical and epidemiologic research studies will ensure greater consistency of case selection.

  18. Polyneuropathy as Novel Initial Manifestation in a Case of “Nonsecretory” POEMS Syndrome with Sjögren's Syndrome

    PubMed Central

    Liang, Minrui; Jiang, Zhixing; Lin, Zhiguang; Chen, Bobin; Zou, Hejian

    2017-01-01

    POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes) is a paraneoplastic syndrome driven by plasma cell dyscrasias. We report a patient with novel initial manifestation of polyneuropathy, which was considered due to Sjögren's syndrome but with poor response to methylprednisolone (120 mg/d) and intravenous immunoglobulin (IVIg). Further investigation by imaging tests and following biopsy eventually confirmed the diagnosis of POEMS syndrome secondary to solitary plasmocytoma. To our knowledge, this is the first reported case of POEMS syndrome with Sjögren's syndrome occurring in the absence of a peripheral monoclonal gammopathy, highlighting the diagnostic challenges posed by this disease and reviewing the diagnostic role of (18) F-FDG PET/CT in POEMS syndrome. PMID:28133484

  19. Lower cranial polyneuropathy in zoster sine herpete presenting with pain in the ear and throat: a case report.

    PubMed

    Hosokawa, Takafumi; Nakajima, Hideto; Tsukahara, Akihiro; Unoda, Kiich; Ishida, Shimon; Kimura, Fumiharu

    2016-10-28

    A 64-year-old woman developed acute paralysis of glossopharyngeal, vagus, accessory, and hypoglossal nerves on the left side after pain in the head and the left ear and throat. Cerebrospinal fluid examination revealed lymphocytic pleocytosis and elevated protein concentration. Varicella-zoster virus (VZV)-DNA was detected by PCR from cerebrospinal fluid. The diagnosis of lower cranial polyneuropathy due to VZV reactivation was made. After oral administration of an anti-viral agent and steroid, all symptoms and signs dramatically improved. Notably, there was no evidence of cutaneous or mucosal rash during the whole course of the disease. VZV reactivation should be included in the differential diagnosis of acute lower cranial polyneuropathy, especially with pain in the ear and throat, even without cutaneous or mucosal rash.

  20. Vincristine-induced polyneuropathy in a child with stage I Wilms' tumour presenting with unilateral abducens nerve palsy.

    PubMed

    Panjawatanan, Panadeekarn; Charoenkwan, Pimlak; Katanyuwong, Kamornwan; Choeyprasert, Worawut

    2014-06-25

    A 4-year-old boy presented with right esotropia while receiving vincristine and dactinomycin for stage I Wilms' tumour according to the National Wilms Tumour Study-5 protocol. On examination, he had isolated limitation of his right lateral gaze. CT of the brain and cerebrospinal fluid examination were normal. A nerve conduction velocity study which was performed on the peripheral nerves revealed predominant motor polyneuropathy compatible with axonal loss involving the upper limbs. The patient had received a cumulative vincristine dose of 17 mg/m(2) before developing esotropia. Vincristine-induced abducens nerve mononeuropathy and subclinical motor polyneuropathy was suspected. Unilateral esotropia markedly improved after the discontinuation of vincristine and a short course of oral pyridoxine treatment.

  1. Spinal primitive neuroectodermal tumor mimicking as chronic inflammatory demyelination polyneuropathy: a case report and review of literature.

    PubMed

    Chan, Sophelia H S; Tsang, Dickson S F; Wong, Virginia C N; Chan, Godfrey C F

    2015-02-01

    We report a young boy who presented with progressive weakness of lower extremities associated with areflexia and abnormal electrophysiological findings initially suggestive of chronic inflammatory demyelinating polyneuropathy. Initial lumbosacral spinal magnetic resonance imaging (MRI) showed thickened descending spinal nerve roots only. Immunomodulating therapy was given but with limited clinical response. Repeated spine magnetic resonance imaging showed cauda equina and also new spinal cord extramedullary contrast enhancement. The initial extensive investigations including open biopsy did not point to any specific diagnosis. Only through pursuing a repeated biopsy, the diagnosis of the spinal peripheral primitive neuroectodermal tumor was confirmed. This case highlights the diagnostic challenges of the spinal peripheral primitive neuroectodermal tumor that could have an initial chronic inflammatory demyelinating polyneuropathy-like presentation. The literature review confirms that this is a rare condition and cauda equina origin has only been reported in adults and teenagers, and this is the first reported case in a young child.

  2. [An effect of antioxidant drugs on symptoms of sensomotor polyneuropathy and affective disorders in patients with diabetes mellitus].

    PubMed

    Volchegorskiĭ, I A; Moskvicheva, M G; Chashchina, E N

    2005-01-01

    An effect of 3-oxypiridine and succinic acid derivates--emoxipine, reamberin and mexidole--on severity of clinical symptoms of distal sensomotor polyneuropathy, anxiety and depression was studied in 120 patients with diabetes mellitus with syndrome of diabetic foot. These medications were used in addition to basic antidiabetic therapy. After 14 days of the treatment an equally pronounced decrease of integral index of "negative" neurological symptoms and reduction of anxiety-depressive disorders were detected.

  3. [A case of sensory ataxic axonal polyneuropathy with IgGλ monoclonal gammopathy successfully treated with intravenous immunoglobulin therapy].

    PubMed

    Kanatsuka, Yoichi; Hasegawa, Osamu; Imazeki, Ryoko; Yamamoto, Masahiro

    2015-01-01

    We report the case of an 84-year-old man with sensory ataxic polyneuropathy and IgGλ monoclonal gammopathy of undetermined significance (MGUS), which was successfully treated with intravenous immunoglobulin (IVIG) therapy. He had developed progressive ataxic gait over the span of 2 years before he was admitted to our hospital. On admission, he was unable to walk without assistance because of severe sensory ataxia. He performed poorly on the finger-nose-finger and heel-knee tests, and his vibration and position sense in the feet was remarkably diminished. However, motor involvement was not remarkable. Serum immunoelectrophoresis revealed IgGλ monoclonal gammopathy, and MGUS was diagnosed. Nerve conduction studies revealed sensory-dominant axonal polyneuropathy. The patient was successfully treated with IVIG (400 mg/kg/day, for 5 days). He regained his capacity to walk independently after treatment, but his nerve conduction results remained unchanged. This sensory ataxia might be partially due to underlying cervical spondylotic myelopathy. To our knowledge, this is the first report in our country of the successful use of IVIG therapy to treat a patient with IgGλ monoclonal gammopathy and related sensory ataxic axonal polyneuropathy.

  4. Chronic Inflammatory Demyelinating Polyneuropathy with Reversible Dementia: A New Clinical Entity?

    PubMed Central

    Samaniego, Jorge

    2013-01-01

    Introduction Classic chronic inflammatory demyelinating polyneuropathy (CIDP), an acquired demyelination of peripheral nerves and nerve roots presents with symmetric motor and sensory involvement, weakness in proximal and distal muscles, globally diminished or absent reflexes, painful dysesthesias, and back pain with no brain involvement. In this case, a highly functional lawyer presents with reversible dementia and motor and sensory symptoms consistent with CIDP. This case may represent a new clinical entity of CIDP with reversible dementia. Case Report A 60-year-old man presented with progressive weakness, and cognitive dysfunction in the form of dementia over the last 8 weeks. Sensory and motor weakness continued to progress affecting upper and lower extremities with both proximal and distal muscle groups to the point where the patient was unable to move without assistance. The patient had word finding difficulty, short-term memory impairment, and was disoriented, despite his comprehension being intact. Initial Montreal Cognitive Assessment (MoCA) was 12/30. Initial neurologic exam was notable for muscle strength 3/5, globally depressed deep tendon reflexes. Lumbar puncture revealed elevated protein with no pleocytosis and no serum paraprotein. EMG/NCS demonstrated mixed sensorimotor axonal and demyelination peripheral polyneuropathy. CIDP was diagnosed based on clinical history according to Koski criteria. He was started on a 5-day treatment of IVIG, after which he had marked cognitive improvement after just one dose and improvement in weakness after the second dose of IVIG. Three weeks after IVIG treatment, the patient's cognitive function was back at baseline with MoCA score 29/30; no further word finding difficulty, and no short term memory impairment. At discharge, the patient's weakness had significantly improved to the point where he was able to walk with only the aid of a walker. His neurologic exam had improved as well as his muscle strength 4/5 and 2

  5. Cardiovascular Autonomic Dysfunction Predicts Diabetic Foot Ulcers in Patients With Type 2 Diabetes Without Diabetic Polyneuropathy

    PubMed Central

    Yun, Jae-Seung; Cha, Seon-Ah; Lim, Tae-Seok; Lee, Eun-Young; Song, Ki-Ho; Ahn, Yu-Bae; Yoo, Ki-Dong; Kim, Joon-Sung; Park, Yong-Moon; Ko, Seung-Hyun

    2016-01-01

    Abstract We investigated the factors that might influence the development of diabetic foot ulcers (DFUs) in type 2 diabetes patients without diabetic polyneuropathy (DPN). From January 2000 to December 2005, a total of 595 patients who had type 2 diabetes without DPN between the ages of 25 and 75 years, and had no prior history of DFUs were consecutively enrolled in the study. A cardiovascular autonomic function test was performed to diagnose cardiovascular autonomic neuropathy (CAN) using heart rate variability parameters. The median follow-up time was 13.3 years. Among the 449 (75.4%) patients who completed the follow-up evaluation, 22 (4.9%) patients developed new ulcers, and 6 (1.3%) patients underwent the procedure for lower extremity amputations. The patients in the DFUs group had a longer duration of diabetes, higher baseline HbA1c levels, higher rates of nephropathy, and CAN. A Cox hazard regression analysis results revealed that the development of DFUs was significantly associated with the presence of CAN (normal vs definite CAN; HR, 4.45; 95% confidence interval, 1.29–15.33) after adjusting for possible confounding factors. The development of DFUs was independently associated with CAN in patients with type 2 diabetes without DPN. We suggested the importance of CAN as a predictor of DFUs even in the patients without DPN, and the need to pay attention to patients with definite CAN and type 2 diabetes. PMID:27015188

  6. Cold Exposure Exacerbates the Development of Diabetic Polyneuropathy in the Rat

    PubMed Central

    Kasselman, Lora J.; Veves, Aristidis; Gibbons, Christopher H.; Rutkove, Seward B.

    2009-01-01

    Diabetic polyneuropathy (DPN) and cold-induced nerve injury share several pathogenic mechanisms. This study explores whether cold exposure contributes to the development of DPN. Streptozotocin-induced diabetic rats and controls were exposed to a room temperature (23°C) or cold environment (10°C). H-reflex, tail and sciatic motor, and sensory nerve conduction studies were performed. Analyses of sural nerve, intraepidermal nerve fibers, and skin and nerve nitrotyrosine ELISAs were performed. Diabetic animals exposed to a cold environment had an increased H-reflex four weeks earlier than diabetic room temperature animals (P = .03). Cold-exposed diabetic animals also had greater reduction in motor conduction velocities at 20 weeks (P = .017), decreased skin nerve fiber density (P = .037), and increased skin nitrotyrosine levels (P = .047). Cold exposure appears to hasten the development of DPN in the rat STZ model of diabetes. These findings support that further study into the relationship between ambient temperature and DPN is warranted. PMID:20130819

  7. AAV1.NT-3 gene therapy attenuates spontaneous autoimmune peripheral polyneuropathy.

    PubMed

    Yalvac, M E; Arnold, W D; Braganza, C; Chen, L; Mendell, J R; Sahenk, Z

    2016-01-01

    The spontaneous autoimmune peripheral polyneuropathy (SAPP) model in B7-2 knockout non-obese diabetic mice shares clinical and histological features with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Secondary axonal loss is prominent in the progressive phase of this neuropathy. Neurotrophin 3 (NT-3) is an important autocrine factor supporting Schwann cell survival and differentiation and stimulates neurite outgrowth and myelination. The anti-inflammatory and immunomodulatory effects of NT-3 raised considerations of potential efficacy in the SAPP model that could be applicable to CIDP. For this study, scAAV1.tMCK.NT-3 was delivered to the gastrocnemius muscle of 25-week-old SAPP mice. Measurable NT-3 levels were found in the serum at 7-week postgene delivery. The outcome measures included functional, electrophysiological and histological assessments. At week 32, NT-3-treated mice showed increased hind limb grip strength that correlated with improved compound muscle action potential amplitude. Myelinated fiber density was 1.9 times higher in the NT-3-treated group compared with controls and the number of demyelinated axons was significantly lower. The remyelinated nerve fiber population was significantly increased. These improved histopathological parameters from scAAV1.tMCK.NT-3 treatment occurred in the setting of reduced sciatic nerve inflammation. Collectively, these findings suggest a translational application to CIDP.

  8. 5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.

    PubMed

    Tsuji, Megumi; Takagi, Atsushi; Sameshima, Kiyoko; Iai, Mizue; Yamashita, Sumimasa; Shinbo, Hiroko; Furuya, Noritaka; Kurosawa, Kenji; Osaka, Hitoshi

    2011-06-01

    5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most prevalent inborn error of folate metabolism, and has variable clinical manifestations from asymptomatic to severe psychomotor retardation, microcephalus and seizure. In untreated infantile cases, it predominantly affects the central nervous system, which is sometimes fatal. On the other hand, peripheral nerve involvement is uncommon. We present a severe infantile case of MTHFR deficiency that manifested unilateral phrenic nerve palsy with communicating hydrocephalus, developmental delay and died at 11months of age. An enzymatic study confirmed MTHFR deficiency with residual activity of 0.75% of mean control values in cultured fibroblasts. Mutation analysis of the MTHFR gene revealed homozygous, tandem missense mutations c.[446G>T; 447C>T] in exon 3 of the MTHFR gene converting glycine to valine (Gly149Val). In MTHFR deficiency, betaine may improve the symptoms if started immediately after birth by reducing the level of serum homocysteine and increasing that of methionine. Our results show that we should be aware of possible inborn errors of folate metabolism such as MTHFR deficiency, in infants with unexplained developmental delay manifesting rapidly progressive polyneuropathy.

  9. Acute-onset chronic inflammatory demyelinating polyneuropathy in hantavirus and hepatitis B virus coinfection

    PubMed Central

    Lim, Jong Youb; Lim, Young-Ho; Choi, Eun-Hi

    2016-01-01

    Abstract Introduction: Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired autoimmune disorder with progressive weakness. Acute-onset CIDP resembles Guillain-Barre syndrome (GBS), a rapidly progressive disorder, and follows a chronic course. To our knowledge, no case of acute-onset CIDP in hantavirus and hepatitis B virus (HBV) coinfection has been reported previously. Clinical findings: We report a case of acute-onset CIDP that was initially diagnosed as GBS. Diagnoses: A 44-year-old male logger complained of acute quadriplegia and dyspnea. Mechanical ventilation was initiated. He was an HBV carrier with mild elevation of hepatic enzyme, and positive for hantavirus antibody. He was diagnosed with GBS and immunoglobulin therapy was administered. Interventions: After 8 months, quadriplegia and hypesthesia recurred. Immunoglobulin therapy at this time had no effect, but steroid therapy had some effect. Outcomes: A diagnosis of CIDP was made. After 2 months, severe extremity pain and dyspnea developed again, and steroid pulse therapy was initiated. Conclusion: Besides GBS, acute-onset CIDP can occur with hantavirus and HBV coinfection. Patients with this coinfection in whom GBS has been initially diagnosed should be followed up for a long time, because of the possibility of relapse or deterioration, and acute-onset CIDP should always be considered. PMID:27930572

  10. Advances in the diagnosis and management of diabetic distal symmetric polyneuropathy

    PubMed Central

    2014-01-01

    Distal symmetric polyneuropathy (DSPN) is the most common chronic complication of diabetes mellitus. The pathogenesis of DSPN is not fully elucidated, but it is certainly multifactorial in nature and attributable to metabolic and microvessel disorders related to chronic hyperglycemia, diabetes duration, and several cardiovascular risk factors. Early diagnosis and appropriate management are extremely important, since up to 50% of DSPN cases may be asymptomatic, and patients are unaware of foot injury leading to foot ulcers and amputation. Simple, validated tests such as the Neuropathy Disability Score and/or Vibration Perception Threshold may be used to diagnose DSPN. Similarly, neurological dysfunction screening questionnaires should be used to assess the quality and severity of DSPN symptoms. Using both methods enables prediction of the prognosis of diabetic patients with DSPN. No causative treatment of DSPN is known, but the results of clinical trials indicate that several treatment options are highly effective in symptomatic treatment of painful DSPN. The appropriate treatment of DSPN may improve the outcome, preventing or delaying the development of numerous diabetic complications. PMID:24904671

  11. Diabetic Polyneuropathy in Type 2 Diabetes Mellitus: Inflammation, Oxidative Stress, and Mitochondrial Function

    PubMed Central

    Román-Pintos, Luis Miguel; Villegas-Rivera, Geannyne; Rodríguez-Carrizalez, Adolfo Daniel; Cardona-Muñoz, Ernesto Germán

    2016-01-01

    Diabetic polyneuropathy (DPN) is defined as peripheral nerve dysfunction. There are three main alterations involved in the pathologic changes of DPN: inflammation, oxidative stress, and mitochondrial dysfunction. Inflammation induces activation of nuclear factor kappa B, activator protein 1, and mitogen-activated protein kinases. Oxidative stress induced by hyperglycemia is mediated by several identified pathways: polyol, hexosamine, protein kinase C, advanced glycosylation end-products, and glycolysis. In addition, mitochondrial dysfunction accounts for most of the production of reactive oxygen and nitrosative species. These free radicals cause lipid peroxidation, protein modification, and nucleic acid damage, to finally induce axonal degeneration and segmental demyelination. The prevalence of DPN ranges from 2.4% to 78.8% worldwide, depending on the diagnostic method and the population assessed (hospital-based or outpatients). Risk factors include age, male gender, duration of diabetes, uncontrolled glycaemia, height, overweight and obesity, and insulin treatment. Several diagnostic methods have been developed, and composite scores combined with nerve conduction studies are the most reliable to identify early DPN. Treatment should be directed to improve etiologic factors besides reducing symptoms; several approaches have been evaluated to reduce neuropathic impairments and improve nerve conduction, such as oral antidiabetics, statins, and antioxidants (alpha-lipoic acid, ubiquinone, and flavonoids). PMID:28058263

  12. A simplified protocol to screen for distal polyneuropathy in type 2 diabetic patients.

    PubMed

    Costa, Luciana A; Maraschin, Jorge F; Xavier de Castro, José H; Gross, Jorge L; Friedman, Rogério

    2006-09-01

    To test a simplified protocol to screen type 2 diabetic patients (DM2) for distal polyneuropathy (DPN), 80 outpatients and 45 controls answered a symptom questionnaire, underwent a directed examination (pin-prick, tuning fork, monofilament, ankle jerk, cold spatula and walking on heels), autonomic tests, and an electroneurophysiological study (EMG). Symptoms were also analysed as scores. DPN was diagnosed in the presence of abnormal EMG (or autonomic neuropathy), plus one symptom or one abnormal objective finding. Symptoms were equally frequent in patients (56%) and controls (35%, P=0.20). Objective findings were more frequent in patients (62/80 versus 11/45; P<0.05). The 60 DM2 patients with DPN were older, with longer diabetes duration and more often hypertensive than those without DPN. The 15 patients unable to walk on heels had DPN (sensitivity 20.8%, specificity 100%, positive predictive value 100% and negative predictive value 12.3%). The 12 patients able to walk on heels but with three or more abnormal tests had DPN (sensitivity 21.1%, specificity 100%, positive predictive value 100% and negative predictive value 15.1%). Isolated signs and symptoms do not identify patients with DPN. Patients with higher degrees of impairment can be identified by six simple ambulatory tests, reducing in one-third the need for EMG.

  13. Diabetic Polyneuropathy in Type 2 Diabetes Mellitus: Inflammation, Oxidative Stress, and Mitochondrial Function.

    PubMed

    Román-Pintos, Luis Miguel; Villegas-Rivera, Geannyne; Rodríguez-Carrizalez, Adolfo Daniel; Miranda-Díaz, Alejandra Guillermina; Cardona-Muñoz, Ernesto Germán

    2016-01-01

    Diabetic polyneuropathy (DPN) is defined as peripheral nerve dysfunction. There are three main alterations involved in the pathologic changes of DPN: inflammation, oxidative stress, and mitochondrial dysfunction. Inflammation induces activation of nuclear factor kappa B, activator protein 1, and mitogen-activated protein kinases. Oxidative stress induced by hyperglycemia is mediated by several identified pathways: polyol, hexosamine, protein kinase C, advanced glycosylation end-products, and glycolysis. In addition, mitochondrial dysfunction accounts for most of the production of reactive oxygen and nitrosative species. These free radicals cause lipid peroxidation, protein modification, and nucleic acid damage, to finally induce axonal degeneration and segmental demyelination. The prevalence of DPN ranges from 2.4% to 78.8% worldwide, depending on the diagnostic method and the population assessed (hospital-based or outpatients). Risk factors include age, male gender, duration of diabetes, uncontrolled glycaemia, height, overweight and obesity, and insulin treatment. Several diagnostic methods have been developed, and composite scores combined with nerve conduction studies are the most reliable to identify early DPN. Treatment should be directed to improve etiologic factors besides reducing symptoms; several approaches have been evaluated to reduce neuropathic impairments and improve nerve conduction, such as oral antidiabetics, statins, and antioxidants (alpha-lipoic acid, ubiquinone, and flavonoids).

  14. VIP-expressing Dendritic Cells Protect Against Spontaneous Autoimmune Peripheral Polyneuropathy

    PubMed Central

    Yalvac, Mehmet E; Arnold, William David; Hussain, Syed-Rehan A; Braganza, Cilwyn; Shontz, Kimberly M; Clark, Kelly Reed; Walker, Christopher M; Ubogu, Eroboghene E; Mendell, Jerry R; Sahenk, Zarife

    2014-01-01

    The spontaneous autoimmune peripheral polyneuropathy (SAPP) model in B7-2 knockout nonobese diabetic mice mimics a progressive and unremitting course of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). In this study, bone marrow–derived dendritic cells (DCs) were transduced to express vasoactive intestinal polypeptide (VIP) using a lentiviral vector (LV-VIP). These transduced DCs (LV-VIP-DCs) were then injected intravenously (i.v.) into 16-week-old (before disease onset) and 21-week-old (after disease onset) SAPP mice in order to prevent or attenuate the disease. Outcome measures included behavioral tests, clinical and histological scoring, electrophysiology, real-time PCR, flow cytometry analyses, and enzyme-linked immunosorbent assay. LV-VIP-DCs were recruited to the inflamed sciatic nerve and reduced the expression of inflammatory cytokines. A single injection of LV-VIP-DC delayed the onset of disease, stabilized, and attenuated clinical signs correlating with ameliorated behavioral functions, reduced nerve demyelination, and improved nerve conduction. This proof-of-principle study is an important step potentially leading to a clinical translational study using DCs expressing VIP in cases of CIDP refractory to standard immunosuppressive therapy. PMID:24762627

  15. Gelsolin-related familial amyloidosis, Finnish type, in a Portuguese family: clinical and neurophysiological studies.

    PubMed

    Conceição, Isabel; Sales-Luis, Maria Lurdes; De Carvalho, Mamede; Evangelista, Teresinha; Fernandes, Rui; Paunio, Tiina; Kangas, Hannele; Coutinho, Paula; Neves, Carlos; Saraiva, Maria João

    2003-12-01

    We report a Portuguese family with familial amyloid polyneuropathy related to gelsolin. There were no known Finnish ancestors, but the same mutation as described in Finnish patients (G654A) was carried. Clinical and neurophysiological investigations were performed in four patients. Corneal lattice dystrophy affected all four patients; an axonal lesion of the facial nerve occurred in three patients; visual tract involvement was documented in one case; and corticospinal and posterior column dysfunction was present in one patient. Polarizing microscopy of skin and muscle samples demonstrated amyloid deposits in two patients; anti-gelsolin immunohistochemistry was positive for amyloidogenic gelsolin. The Finnish mutation of gelsolin protein (G654A) was detected in five family members. The utility of neurophysiological testing in the evaluation and follow-up of this type of amyloidosis is discussed.

  16. Acute Motor-dominant Polyneuropathy as Guillain-Barré Syndrome and Multiple Mononeuropathies in a Patient with Sjögren's Syndrome.

    PubMed

    Tanaka, Kenichiro; Nakayasu, Hiroyuki; Suto, Yutaka; Takahashi, Shotaro; Konishi, Yoshihiro; Nishimura, Hirotake; Ueno, Rino; Kusunoki, Susumu; Nakashima, Kenji

    A patient with xerostomia and xerophthalmia due to Sjögren's syndrome presented with acute motor-dominant polyneuropathy and multiple mononeuropathy with antiganglioside antibodies. Nerve conduction studies and a sural nerve biopsy revealed the neuropathy as a mixture of segmental demyelination and axonal degeneration. Positive results were obtained for several antiganglioside antibodies. Corticosteroid treatment proved effective. The neuropathy was considered to represent a mixture of polyneuropathy as Guillain-Barré syndrome and multiple mononeuropathy via Sjögren's syndrome. We speculate that Guillain-Barré syndrome occurred in the patient and Guillain-Barré syndrome itself activated multiple mononeuropathy via Sjögren's syndrome.

  17. Effect of rosuvastatin on diabetic polyneuropathy: a randomized, double-blind, placebo-controlled Phase IIa study

    PubMed Central

    Hernández-Ojeda, Jaime; Román-Pintos, Luis Miguel; Rodríguez-Carrízalez, Adolfo Daniel; Troyo-Sanromán, Rogelio; Cardona-Muñoz, Ernesto Germán; Alatorre-Carranza, María del Pilar; Miranda-Díaz, Alejandra Guillermina

    2014-01-01

    Background Diabetic neuropathy affects 50%–66% of patients with diabetes mellitus. Oxidative stress generates nerve dysfunction by causing segmental demyelinization and axonal degeneration. Antioxidants are considered to be the only etiologic management for diabetic polyneuropathy, and statins such as rosuvastatin increase nitric oxide bioavailability and reduce lipid peroxidation. The aim of this study was to evaluate the antioxidant effect of rosuvastatin in diabetic polyneuropathy. Methods We conducted a randomized, double-blind, placebo-controlled Phase IIa clinical trial in patients with type 2 diabetes and diabetic polyneuropathy (DPN) stage ≥1b. We allocated subjects to two parallel groups (1:1) that received rosuvastatin 20 mg or placebo for 12 weeks. Primary outcomes were neuropathic symptom score, disability score, and nerve conduction studies, and secondary outcomes were glycemic control, lipid and hepatic profile, lipid peroxidation, and nerve growth factor beta (NGF-β) levels. Results Both groups were of similar age and duration since diagnosis of diabetes and DPN. We observed improvement of DPN in the rosuvastatin group from stage 2a (88.2%) to stage 1b (41.2%), improvement of neuropathic symptom score from 4.5±2 to 2.4±1.8, and significant (P=0.001) reductions of peroneal nerve conduction velocity (from 40.8±2.2 to 42.1±1.6 seconds) and lipid peroxidation (from 25.4±2 to 12.2±4.0 nmol/mL), with no significant change in glycemic control or β-NGF. Conclusion The severity, symptoms, and nerve conduction parameters of DPN improved after 12 weeks of treatment with rosuvastatin. These beneficial effects appear to be attributable to reductions in lipid peroxidation and oxidative stress. PMID:25214797

  18. [Wernicke´s encephalopathy and polyneuropathy associated with vitamin B complex deficiency after a bariatric surgery].

    PubMed

    Carvajal, Tomas; Franco, Diana L; Martínez, Adriana; Peña, Iván M

    2012-01-01

    Bariatric surgery is a treatment that guarantees a substantial and lasting weight loss in addition to the tangible benefits relating to obesity-associated medical conditions. The increasing number of bariatric surgeries has revealed an increasing number of complications related to this procedure, including Wernicke´s encephalopathy and vitamin B deficiency polyneuropathies. Herein, a 7-week post-surgery case of Wernicke´s encephalopathy is presented that emphasizes the importance of an early recognition of these symptoms so as to initiate intervention during the reversible phase of these potentially lethal pathologies.

  19. Reversible acute axonal polyneuropathy associated with Wernicke-Korsakoff syndrome: impaired physiological nerve conduction due to thiamine deficiency?

    PubMed

    Ishibashi, S; Yokota, T; Shiojiri, T; Matunaga, T; Tanaka, H; Nishina, K; Hirota, H; Inaba, A; Yamada, M; Kanda, T; Mizusawa, H

    2003-05-01

    Acute axonal polyneuropathy and Wernicke-Korsakoff encephalopathy developed simultaneously in three patients. Nerve conduction studies (NCS) detected markedly decreased compound muscle action potentials (CMAPs) and sensory nerve action potentials (SNAPs) with minimal conduction slowing; sympathetic skin responses (SSRs) were also notably decreased. Sural nerve biopsies showed only mild axonal degeneration with scattered myelin ovoid formation. The symptoms of neuropathy lessened within two weeks after an intravenous thiamine infusion. CMAPs, SNAPs, and SSRs also increased considerably. We suggest that this is a new type of peripheral nerve impairment: physiological conduction failure with minimal conduction delay due to thiamine deficiency.

  20. Comorbidity of psychiatric disorders and symmetric distal polyneuropathy among type II diabetic outpatients.

    PubMed

    Moreira, R O; Papelbaum, M; Fontenelle, L F; Appolinario, J C; Ellinger, V C M; Coutinho, W F; Zagury, L

    2007-02-01

    The objective of the present study was to establish the frequency of psychiatric comorbidity in a sample of diabetic patients with symmetric distal polyneuropathy (SDPN). Sixty-five patients with type 2 diabetes mellitus were selected consecutively to participate in the study at Instituto Estadual de Diabetes e Endocrinologia. All patients were submitted to a complete clinical and psychiatric evaluation, including the Portuguese version of the structured clinical interview for DSM-IV, the Beck Depression Inventory, the Neuropathy Symptom Score, and Neuropathy Disability Score. SDPN was identified in 22 subjects (33.8%). Patients with and without SDPN did not differ significantly regarding sociodemographic characteristics. However, a trend toward a worse glycemic control was found in patients with SDPN in comparison to patients without SDPN (HbA1c = 8.43 +/- 1.97 vs 7.48 +/- 1.95; P = 0.08). Patients with SDPN exhibited axis I psychiatric disorders significantly more often than those without SDPN (especially anxiety disorders, in general (81.8 vs 60.0%; P = 0.01), and major depression--current episode, in particular (18.2 vs 7.7%; P = 0.04)). The severity of the depressive symptoms correlated positively with the severity of SDPN symptoms (r = 0.38; P = 0.006), but not with the severity of SDPN signs (r = 0.07; P = 0.56). In conclusion, the presence of SDPN seems to be associated with a trend toward glycemic control. The diagnosis of SDPN in diabetic subjects seems also to be associated with relevant psychiatric comorbidity, including anxiety and current mood disorders.

  1. Polyneuropathy associated with duodenal infusion of levodopa in Parkinson's disease: features, pathogenesis and management.

    PubMed

    Uncini, Antonino; Eleopra, Roberto; Onofrj, Marco

    2015-05-01

    Patients with Parkinson's disease (PD) treated with oral levodopa have a higher prevalence of chronic, prevalently sensory, usually mild axonal polyneuropathy (PNP). Several studies showed a positive association among PNP, cumulative levodopa dosage, low serum B12 and high-homocysteine and methylmalonic acid level. Anecdotal severe acute or subacute PNPs thought to be Guillain-Barré syndrome have been reported in patients receiving continuous intraduodenal infusion of levodopa/carbidopa intestinal gel (LCIG). We report an additional acute case and by a systematic literature search we also reviewed the clinical and laboratory features of 13 other acute and 21 subacute PNP cases occurring during LCIG treatment. In series with at least nine patients, the mean frequency of acute and subacute PNP is 13.6% and the mortality rate at 6 months in acute cases is 14%. The great majority of PNP cases displayed axonal sensory-motor and reduced vitamin B12 levels, and alterations of metabolites of 1-carbon pathway were found in most patients. We discuss the possible role of high-levodopa dosage, vitamin B12, B6 and folate deficiency and accumulation of homocysteine and methylmalonic acid in the pathogenesis to conclude that there is enough, although circumstantial, evidence that alterations of 1-carbon pathway are implicated also in acute and subacute PNP during LCIG usage. There is no solid proof for a dysimmune pathogenesis and in our opinion acute, subacute and chronic PNP, either after oral levodopa or LCIG, represent a continuum. Finally, we propose recommendations for prevention and management of PNP occurring during LCIG treatment.

  2. Acetyl-L-carnitine in diabetic polyneuropathy: experimental and clinical data.

    PubMed

    Sima, Anders A F

    2007-01-01

    Diabetic polyneuropathy (DPN) is the most common late complication of diabetes mellitus. The underlying pathogenesis is multifaceted, with partly interrelated mechanisms that display a dynamic course. The mechanisms underlying DPN in type 1 and type 2 diabetes mellitus show overlaps or may differ. The differences are mainly due to insulin deficiency in type 1 diabetes which exacerbates the abnormalities caused by hyperglycaemia. Experimental DPN in rat models have identified early metabolic abnormalities with consequences for nerve conduction velocities and endoneurial blood flow. When corrected, the early functional deficits are usually normalised. On the other hand, if not corrected, they lead to abnormalities in lipid peroxidation and expression of neurotrophic factors which in turn result in axonal, nodal and paranodal degenerative changes with worsening of nerve function. As the structural changes progress, they become increasingly less amendable to metabolic interventions. In the past several years, experimental drugs--such as aldose reductase inhibitors, antioxidants and protein kinase C inhibitors--have undergone clinical trials, with disappointing outcomes. These drugs, targeting a single underlying pathogenetic factor, have in most cases been initiated at the advanced stage of DPN. In contrast, substitution of acetyl-L-carnitine (ALC) or C-peptide in type 1 DPN target a multitude of underlying mechanisms and are therefore more likely to be effective on a broader spectrum of the underlying pathogenesis. Clinical trials utilising ALC have shown beneficial effects on nerve conduction slowing, neuropathic pain, axonal degenerative changes and nerve fibre regeneration, despite relatively late initiation in the natural history of DPN. Owing to the good safety profile of ALC, early initiation of ALC therapy would be justified, with potentially greater benefits.

  3. Autonomic dysfunction is common in HIV and associated with distal symmetric polyneuropathy

    PubMed Central

    Robinson-Papp, Jessica; Sharma, Sandeep; Simpson, David M.; Morgello, Susan

    2013-01-01

    Neurologic complications of HIV are well characterized in the central and peripheral nervous systems but not in the autonomic nervous system, perhaps due to the complexities of measuring autonomic function in medically ill populations. We hypothesized that autonomic dysfunction is common in HIV, can be meaningfully measured with an autonomic reflex screen, and is associated with distal symmetric polyneuropathy (DSP) but not with signs of CNS disease. We also sought to characterize immuno-virologic and medical factors associated with autonomic dysfunction. We assessed 102 HIV-infected adults for autonomic dysfunction with a laboratory-based autonomic reflex screen summarized as the Composite Autonomic Severity Score (CASS). The Total Neuropathy Score (TNS) was used to quantify DSP based on neurologic interview/examination, quantitative sensory testing, and nerve conduction studies. Autonomic dysfunction was common, with a CASS ≥ 3 in 61% of participants, of whom 86% were symptomatic. Greater CASS abnormalities demonstrated univariate association with increasing TNS, age, viral load, hypertension, and use of medications (particularly anticholinergics), but not with antiretrovirals, current/nadir CD4+ count, HIV-duration, metabolic factors, or signs of CNS disease. The TNS was the only significant predictor of the CASS in multivariate analysis; anticholinergic medications were marginally significant. This study demonstrates that autonomic dysfunction is common and frequently symptomatic in HIV, and that an autonomic reflex screen, adjusted for anticholinergic medication, is useful in its assessment. Association of autonomic dysfunction with DSP suggests common factors in their pathogenesis, and autonomic neuropathy may be part of the spectrum of HIV-associated peripheral nerve pathologies. PMID:23580249

  4. Evidence of Small-Fiber Polyneuropathy in Unexplained, Juvenile-Onset, Widespread Pain Syndromes

    PubMed Central

    Klein, Max M.

    2013-01-01

    OBJECTIVE: We tested the hypothesis that acquired small-fiber polyneuropathy (SFPN), previously uncharacterized in children, contributes to unexplained pediatric widespread pain syndromes. METHODS: Forty-one consecutive patients evaluated for unexplained widespread pain beginning before age 21 had medical records comprehensively analyzed regarding objective diagnostic testing for SFPN (neurodiagnostic skin biopsy, nerve biopsy, and autonomic function testing), plus histories, symptoms, signs, other tests, and treatments. Healthy, demographically matched volunteers provided normal controls for SFPN tests. RESULTS: Age at illness onset averaged 12.3 ± 5.7 years; 73% among this poly-ethnic sample were female (P = .001). Sixty-eight percent were chronically disabled, and 68% had hospitalizations. Objective testing diagnosed definite SFPN in 59%, probable SFPN in 17%, and possible SFPN in 22%. Only 1 of 41 had entirely normal SFPN test results. Ninety-eight percent of patients had other somatic complaints consistent with SFPN dysautonomia (90% cardiovascular, 82% gastrointestinal, and 34% urologic), 83% reported chronic fatigue, and 63% had chronic headache. Neurologic examinations identified reduced sensation in 68% and vasomotor abnormalities in 55%, including 23% with erythromelalgia. Exhaustive investigations for SFPN causality identified only history of autoimmune illnesses in 33% and serologic markers of disordered immunity in 89%. Treatment with corticosteroids and/or intravenous immune globulin objectively and subjectively benefited 80% of patients (12/15). CONCLUSIONS: More than half among a large series of patients with childhood-onset, unexplained chronic widespread pain met rigorous, multitest, diagnostic criteria for SFPN, which extends the age range of acquired SFPN into early childhood. Some cases appeared immune-mediated and improved with immunomodulatory therapies. PMID:23478869

  5. An 'Importance' Map of Signs and Symptoms to Classify Diabetic Polyneuropathy: An Exploratory Data Analysis

    PubMed Central

    Sacco, Isabel C. N.; Suda, Eneida Yuri; Vigneron, Vincent; Sartor, Cristina Dallemole

    2015-01-01

    Aims/Hypothesis Early diagnosis of diabetic polyneuropathy (DPN) is critical for a good prognosis. We aimed to identify different groups of patients, based on the various common clinical signs and symptoms of DPN, that represent a progressive worsening of the disease before the onset of plantar ulceration or amputation. We also sought to identify the most important DPN-related variables that can discriminate between groups, thus representing the most informative variables for early detection. Methods In 193 diabetic patients, we assessed 16 DPN-related signs, symptoms, and foot characteristics, based on the literature and the International Consensus on the Diabetic Foot. We used multiple correspondence analysis and the Kohonen algorithm to group the variables into micro and macro-classes and to identify clusters of patients that represent different DPN conditions. Results Four distinct groups were observed. One group showed no indication of DPN. The remaining groups were characterized by a progressive loss of the vibration perception, without a worsening of symptoms or tactile perception. The 2 intermediate groups presented different aspects of DPN: one showed mostly DPN symptoms and the other showed the incipient vibration impairment, callus and crack formation, and foot arch alteration. The fourth group showed more severe foot and DPN conditions, including ulceration and amputation, absence of vibration and tactile perception (irrespective of how many compromised foot areas), and worse foot deformities and callus and crack formation. Conclusion Vibration perception was more informative than tactile sensitivity in discriminating early DPN onset because its impairment was evident in more groups. Symptoms and callus and cracks did not discriminate the severity status and should be interpreted in association with other clinical variables. Reconsideration of the current screening techniques is needed to clinically determine the early onset of neuropathy using tactile

  6. Distribution patterns of demyelination correlate with clinical profiles in chronic inflammatory demyelinating polyneuropathy

    PubMed Central

    Kuwabara, S; Ogawara, K; Misawa, S; Mori, M; Hattori, T

    2002-01-01

    Background: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a heterogeneous disorder having a wide clinical range, and is characterised by multifocal demyelination that can involve the distal nerve terminals, intermediate nerve segments, and nerve roots. Objective: To investigate whether the distribution patterns of demyelination along the course of the nerve correlate with clinical profiles in patients with CIDP. Methods: Motor nerve conduction studies were carried out on 42 consecutive patients. According to the physiological criteria for demyelination, the presence of a demyelinative lesion was determined in the distal nerve segments (distal pattern) or intermediate nerve segments (intermediate pattern), or in both (diffuse pattern). The serum concentration of tumour necrosis factor (TNF)-α was measured by immunoassay. Results: Patients were classified as having a distal (n=10), intermediate (n=13), or diffuse (n=15) pattern, or were unclassified (n=4). Patients with the distal or diffuse pattern had common clinical features such as subacute onset, symmetric symptoms, and weakness involving proximal as well as distal muscles. Patients with the distal pattern had a good response to treatment and a monophasic remitting course, but the diffuse pattern was associated with a treatment dependent relapsing course, reflecting longer disease activity. The serum TNF-α concentrations increased only in the "diffuse" subgroup of patients, and this might be associated with breakdown of the blood-nerve barrier and therefore, involvement of the intermediate segments. The intermediate pattern was characterised by a chronic course, asymmetric symptoms, less severe disability, and refractoriness to treatments. Conclusions: CIDP consists of subtypes with varying predilections for lesions along the course of the nerve. The distribution patterns of conduction abnormalities may be useful in the prediction of outcome of patients with CIDP. PMID:11784822

  7. Epidemiologic variability of chronic inflammatory demyelinating polyneuropathy with different diagnostic criteria: study of a UK population.

    PubMed

    Rajabally, Yusuf A; Simpson, Benjamin S; Beri, Sushil; Bankart, John; Gosalakkal, Jayaprakash A

    2009-04-01

    Epidemiologic data on chronic inflammatory demyelinating polyneuropathy (CIDP) is limited, and previous studies have shown variable results. The frequencies of CIDP subtypes remain unknown. Variations due to use of different diagnostic criteria have not been studied. We examined the prevalence and incidence of CIDP in Leicestershire and Rutland, UK (population 963,600). Prevalence day was 1 May 2008. The prevalence of CIDP fulfilling the 2006 clinical and electrophysiologic European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) criteria was 4.77 per 100,000 (95% confidence interval [CI] 3.49-6.37). Using the 1991 American Academy of Neurology (AAN) criteria, the prevalence was 1.97 per 100,000 in this population (95% CI 1.19-3.08). Lewis-Sumner syndrome was diagnosed in 15.2% of patients, and 23.9% had pure sensory onset. Over 40% required no immunotherapy, and 84.6% of those treated responded. More than 80% of the AAN criteria-negative but EFNS/PNS criteria-positive patients were responsive to treatment. Both sets of criteria were equally likely to identify patients who required therapy. The mean annual incidence rate over the 3 years preceding the prevalence day was 0.70 per 100,000/year using EFNS/PNS criteria (95% CI 0.43-1.08), and 0.35 per 100,000/year using AAN criteria (95% CI 0.17-0.64). We conclude that the AAN criteria may underestimate prevalence and incidence of the disease. The EFNS/PNS criteria provide higher diagnostic sensitivity and are of greater clinical relevance, and they also offer a useful breakdown of the epidemiologic data for CIDP subtypes.

  8. Emergencies in parkinsonism: akinetic crisis, life-threatening dyskinesias, and polyneuropathy during L-Dopa gel treatment.

    PubMed

    Onofrj, Marco; Bonanni, Laura; Cossu, Giovanni; Manca, Davide; Stocchi, Fabrizio; Thomas, Astrid

    2009-12-01

    This article reviews literature on three emergencies in Parkinson's disease (PD): Akinetic crisis, severe dyskinesias or life-threatening dyskinesias, and polyneuropathy during duodenal L-Dopa gel infusion treatment. Akinetic crisis is also known as Parkinsonian hyperpyrexia, Neuroleptic-like malignant syndrome, Acute akinesia, and Malignant syndrome in parkinsonism. It appears in 0.3% of PD patients/year, and is characterized in the most severe cases by total akinesia with dysphagia, hyperthermia, dysautonomia, increment of muscle enzymes and alterations of mental status, but it may also appear in less severe forms ("forme frusta"). At difference with the continuum of motor hypokinesias observed in PD it is characterized by transient (in cases with favorable outcome) unresponsiveness to rescue drugs. Life-supporting measures are mandatory in patients affected by this emergency. Severe dyskinesia, or life-threatening dyskinesia, is due to increased dopaminergic stimulation (either by the patient or by the prescriber): when it appears the level of dopaminomimetic stimulation should be reduced. Polyneuropathy during duodenal L-Dopa gel infusion is a recently described complication, attributed to the onset of Guillain-Barré syndromes. However, hemapheresis was not effective in some reported cases, and recent evidence suggests that Vitamin B12 deficiency or direct high-dose chronic L-Dopa toxicity might play a role in its origin.

  9. The role of neurologists and diagnostic tests in the management of distal symmetric polyneuropathy

    PubMed Central

    Callaghan, Brian C.; Kerber, Kevin A.; Lisabeth, Lynda L.; Morgenstern, Lewis B.; Longoria, Ruth; Rodgers, Ann; Longwell, Paxton; Feldman, Eva L.

    2014-01-01

    Importance Distal symmetric polyneuropathy (DSP) is a prevalent condition resulting in high costs from diagnostic testing. However, the role of neurologists and diagnostic tests on patient care is unknown. Objective To determine how often neurologists and diagnostic tests influence the diagnosis and management of DSP patients in a community setting. Design We utilized a validated case-capture method (ICD-9 screening technique with subsequent medical chart abstraction) to identify patients with a new DSP diagnosis (retrospective cohort). Using a structured data abstraction process, diagnostic testing, diagnoses rendered (before and after testing), and subsequent management were recorded. Setting Community neurologist’s outpatient offices in Corpus Christi, Texas. Participants Patients meeting the Toronto consensus criteria for probable DSP. Main Outcome Measure Changes in etiology and management after diagnostic testing by neurologists. Results Between 1/1/2010–3/31/2011, we identified 458 DSP patients followed for mean (SD) 435.3 (44.1) days. Neurologists identified a cause of DSP in 63.5% of cases prior to their diagnostic testing. Seventy-one patients (15.5%) had a new DSP cause discovered after testing by neurologists. The most common new diagnoses were pre-diabetes (N=28), B12 deficiency (N=20), diabetes (N=8), and thyroid disease (N=8). Management changes were common (63.1%), usually related to neuropathic pain management (77.5%). Disease modifying management changes occurred in 24.7% with diabetes management (N=45), starting vitamins (N=39), advising diet/exercise (N=33), and adjusting thyroid medications (N=10) the most common. Electrodiagnostic testing and MRIs of the neuroaxis rarely led to management changes. Conclusions and Relevance Neurologists diagnosed the cause of DSP in almost two-thirds of patients prior to their diagnostic testing. Inexpensive blood tests for diabetes, thyroid dysfunction, and B12 deficiency, allowed neurologists to identify

  10. Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.

    PubMed

    de Filette, Jeroen; Hasaerts, Danielle; Seneca, Sara; Gheldof, Alexander; Stouffs, Katrien; Keymolen, Kathelijn; Velkeniers, Brigitte

    2016-02-01

    Hereditary sensory autonomic neuropathy (HSAN) is a rare condition, predominantly affecting the peripheral sensory nervous system, although variable motor and dysautonomic symptoms can be present. At least 7 clinical types of HSAN have been described, and different genetic mutations have been identified for each of these. HSAN IIA (OMIM #201300) is characterized by loss of pain and loss of temperature and touch sensation, with onset usually before the first decade. The mode of inheritance is autosomal recessive.(1) The causative gene, WNK1/HSN2, is located on locus 12p13.33 and is an isoform of the WNK1 (lysine deficient protein kinase 1) gene, which contains the HSN2 exon.(2,3) We describe 2 new heterozygous mutations in the WNK1/HSN2 gene in a Belgian patient with early-onset sensory polyneuropathy.

  11. Undiagnosed Small-Fiber Polyneuropathy: Is it a Component of Gulf War Illness?

    DTIC Science & Technology

    2014-09-01

    injuries. Twenty- five percent had documented preced- ing infections including Mycoplasma pneumoniae, Bordatella pertussis, Mycobacterium tuberculosis ...cured. Common causes of SFPN include diabetes, hematological malig- nancies, autoimmune conditions, infections , toxins (including medications), and...laboratory, consistent with unrecognized familial SFPN.31 Sixty-one percent of patients/families attributed onset of their illness to preceding infections or

  12. Functional Outcomes and Efficiency of Rehabilitation in a National Cohort of Patients with Guillain - Barré Syndrome and Other Inflammatory Polyneuropathies

    PubMed Central

    Alexandrescu, Roxana; Siegert, Richard John; Turner-Stokes, Lynne

    2014-01-01

    Objectives To describe functional outcomes, care needs and cost-efficiency of hospital rehabilitation for a UK cohort of inpatients with complex rehabilitation needs arising from inflammatory polyneuropathies. Subjects and Setting 186 patients consecutively admitted to specialist neurorehabilitation centres in England with Guillain-Barré Syndrome (n = 118 (63.4%)) or other inflammatory polyneuropathies, including chronic inflammatory demyelinating polyneuropathy (n = 15 (8.1%) or critical illness neuropathy (n = 32 (17.2%)). Methods Cohort analysis of data from the UK Rehabilitation Outcomes Collaborative national clinical dataset. Outcome measures include the UK Functional Assessment Measure, Northwick Park Dependency Score (NPDS) and Care Needs Assessment (NPCNA). Patients were analysed in three groups of dependency based on their admission NPDS score: ‘low’ (NPDS<10), ‘medium’ (NPDS 10–24) and ‘high’ (NPDS ≥25). Cost-efficiency was measured as the time taken to offset the cost of rehabilitation by savings in NPCNA-estimated costs of on-going care in the community. Results The mean rehabilitation length of stay was 72.2 (sd = 66.6) days. Significant differences were seen between the diagnostic groups on admission, but all showed significant improvements between admission and discharge, in both motor and cognitive function (p<0.0001). Patients who were highly dependent on admission had the longest lengths of stay (mean 97.0 (SD 79.0) days), but also showed the greatest reduction in on-going care costs (£1049 per week (SD £994)), so that overall they were the most cost-efficient to treat. Conclusions Patients with polyneuropathies have both physical and cognitive disabilities that are amenable to change with rehabilitation, resulting in significant reduction in on-going care-costs, especially for highly dependent patients. PMID:25402491

  13. Treatment with α-Lipoic Acid over 16 Weeks in Type 2 Diabetic Patients with Symptomatic Polyneuropathy Who Responded to Initial 4-Week High-Dose Loading

    PubMed Central

    Garcia-Alcala, Hector; Santos Vichido, Celia Isabel; Islas Macedo, Silverio; Genestier-Tamborero, Christelle Nathalie; Minutti-Palacios, Marissa; Hirales Tamez, Omara; García, Carlos; Ziegler, Dan

    2015-01-01

    Effective treatment of diabetic sensorimotor polyneuropathy remains a challenge. To assess the efficacy and safety of α-lipoic acid (ALA) over 20 weeks, we conducted a multicenter randomized withdrawal open-label study, in which 45 patients with type 2 diabetes and symptomatic polyneuropathy were initially treated with ALA (600 mg tid) for 4 weeks (phase 1). Subsequently, responders were randomized to receive ALA (600 mg qd; n = 16) or to ALA withdrawal (n = 17) for 16 weeks (phase 2). During phase 1, the Total Symptom Score (TSS) decreased from 8.9 ± 1.8 points to 3.46 ± 2.0 points. During phase 2, TSS improved from 3.7 ± 1.9 points to 2.5 ± 2.5 points in the ALA treated group (p < 0.05) and remained unchanged in the ALA withdrawal group. The use of analgesic rescue medication was higher in the ALA withdrawal group than ALA treated group (p < 0.05). In conclusion, in type 2 diabetic patients with symptomatic polyneuropathy who responded to initial 4-week high-dose (600 mg tid) administration of ALA, subsequent treatment with ALA (600 mg qd) over 16 weeks improved neuropathic symptoms, whereas ALA withdrawal was associated with a higher use of rescue analgesic drugs. This trial is registered with ClinicalTrials.gov Identifier: NCT02439879. PMID:26345602

  14. Treatment with α-Lipoic Acid over 16 Weeks in Type 2 Diabetic Patients with Symptomatic Polyneuropathy Who Responded to Initial 4-Week High-Dose Loading.

    PubMed

    Garcia-Alcala, Hector; Santos Vichido, Celia Isabel; Islas Macedo, Silverio; Genestier-Tamborero, Christelle Nathalie; Minutti-Palacios, Marissa; Hirales Tamez, Omara; García, Carlos; Ziegler, Dan

    2015-01-01

    Effective treatment of diabetic sensorimotor polyneuropathy remains a challenge. To assess the efficacy and safety of α-lipoic acid (ALA) over 20 weeks, we conducted a multicenter randomized withdrawal open-label study, in which 45 patients with type 2 diabetes and symptomatic polyneuropathy were initially treated with ALA (600 mg tid) for 4 weeks (phase 1). Subsequently, responders were randomized to receive ALA (600 mg qd; n = 16) or to ALA withdrawal (n = 17) for 16 weeks (phase 2). During phase 1, the Total Symptom Score (TSS) decreased from 8.9 ± 1.8 points to 3.46 ± 2.0 points. During phase 2, TSS improved from 3.7 ± 1.9 points to 2.5 ± 2.5 points in the ALA treated group (p < 0.05) and remained unchanged in the ALA withdrawal group. The use of analgesic rescue medication was higher in the ALA withdrawal group than ALA treated group (p < 0.05). In conclusion, in type 2 diabetic patients with symptomatic polyneuropathy who responded to initial 4-week high-dose (600 mg tid) administration of ALA, subsequent treatment with ALA (600 mg qd) over 16 weeks improved neuropathic symptoms, whereas ALA withdrawal was associated with a higher use of rescue analgesic drugs. This trial is registered with ClinicalTrials.gov Identifier: NCT02439879.

  15. A Gly98Val mutation in the N-Myc downstream regulated gene 1 (NDRG1) in Alaskan Malamutes with polyneuropathy.

    PubMed

    Bruun, Camilla S; Jäderlund, Karin H; Berendt, Mette; Jensen, Kristine B; Spodsberg, Eva H; Gredal, Hanne; Shelton, G Diane; Mickelson, James R; Minor, Katie M; Lohi, Hannes; Bjerkås, Inge; Stigen, Oyvind; Espenes, Arild; Rohdin, Cecilia; Edlund, Rebecca; Ohlsson, Jennie; Cizinauskas, Sigitas; Leifsson, Páll S; Drögemüller, Cord; Moe, Lars; Cirera, Susanna; Fredholm, Merete

    2013-01-01

    The first cases of early-onset progressive polyneuropathy appeared in the Alaskan Malamute population in Norway in the late 1970s. Affected dogs were of both sexes and were ambulatory paraparetic, progressing to non-ambulatory tetraparesis. On neurologic examination, affected dogs displayed predominantly laryngeal paresis, decreased postural reactions, decreased spinal reflexes and muscle atrophy. The disease was considered eradicated through breeding programmes but recently new cases have occurred in the Nordic countries and the USA. The N-myc downstream-regulated gene (NDRG1) is implicated in neuropathies with comparable symptoms or clinical signs both in humans and in Greyhound dogs. This gene was therefore considered a candidate gene for the polyneuropathy in Alaskan Malamutes. The coding sequence of the NDRG1 gene derived from one healthy and one affected Alaskan Malamute revealed a non-synonymous G>T mutation in exon 4 in the affected dog that causes a Gly98Val amino acid substitution. This substitution was categorized to be "probably damaging" to the protein function by PolyPhen2 (score: 1.000). Subsequently, 102 Alaskan Malamutes from the Nordic countries and the USA known to be either affected (n = 22), obligate carriers (n = 7) or healthy (n = 73) were genotyped for the SNP using TaqMan. All affected dogs had the T/T genotype, the obligate carriers had the G/T genotype and the healthy dogs had the G/G genotype except for 13 who had the G/T genotype. A protein alignment showed that residue 98 is conserved in mammals and also that the entire NDRG1 protein is highly conserved (94.7%) in mammals. We conclude that the G>T substitution is most likely the mutation that causes polyneuropathy in Alaskan Malamutes. Our characterization of a novel candidate causative mutation for polyneuropathy offers a new canine model that can provide further insight into pathobiology and therapy of human polyneuropathy. Furthermore, selection against this mutation can

  16. [Successful treatment of HIV-associated chronic inflammatory demyelinating polyneuropathy by early initiation of highly active anti-retroviral therapy].

    PubMed

    Kume, Kodai; Ikeda, Kazuyo; Kamada, Masaki; Touge, Tetsuo; Deguchi, Kazushi; Masaki, Tsutomu

    2013-01-01

    A 47-year-old man with HIV infection presented with lower leg dominant dysesthesia, muscle weakness and sensory ataxia of 3 month's duration. Nerve conduction studies (NCS) showed demyelination change in the median and tibial nerves and sensory nerve action potential (SNAP) in the sural nerve was not evoked. Somatosensory evoked potential (SEP) showed the delayed N9 latency. Diagnose of HIV-associated chronic inflammatory demyelinating polyneuropathy (CIDP) was made. Although the CD4 lymphocyte counts were relatively preserved (466/μl), highly active anti-retroviral therapy (HAART) was started according to a new guideline for the use of antiretroviral agents in HIV-1-infected adults and adolescents recommending early initiation of treatment. After six months, HIV1-RNA was not detected and the CD4 lymphocyte counts showed a recovering trend (585/μl). His symptoms had disappeared, except for dysesthesia in the tip of a toe. Repeated NCS demonstrated full recovery from the demyelination and appearance of SNAP in the sural nerve. The improvement of his symptoms and NCS findings has been maintained for two years. Although effectiveness of immunotherapies such as oral prednisone, high-dose immunoglobulins and plasmapheresis have been reported in HIV-associated CIDP, early initiation of HAART may be also important for favorable prognosis in HIV-associated CIDP.

  17. Subcutaneous vs intravenous administration of immunoglobulin in chronic inflammatory demyelinating polyneuropathy: an Italian cost-minimization analysis.

    PubMed

    Lazzaro, Carlo; Lopiano, Leonardo; Cocito, Dario

    2014-07-01

    Prior researches have suggested that home-based subcutaneous immunoglobulin (SCIG) is equally effective and can be less expensive than hospital-based intravenous immunoglobulin (IVIG) in treating chronic inflammatory demyelinating polyneuropathy (CIDP) patients. This economic evaluation aims at comparing costs of SCIG vs IVIG for CIDP patients in Italy. A 1-year model-based cost-minimization analysis basically populated via neurologists' opinion was undertaken from a societal perspective. Health care resources included immunoglobulin; drugs for premedication and complications (rash, headache, and hypertension) management; time of various health care professionals; pump for SCIG self-administration; infusion disposables. Non-health care resources encompassed transport and parking; losses of working and leisure time for patients and caregivers. Unit or yearly costs for resources valuation were mainly obtained from published sources. Costs were expressed in Euro () 2013. An extensive one-way sensitivity analysis (OWSA) and a scenario SA tested the robustness of the base case findings. Overall costs per patient amount to 49,534.75 (SCIG) and 50,895.73 (IVIG); saving in favour of SCIG reaches 1360.98. For both SCIG and IVIG, the cost driver was immunoglobulin (94.06 vs 86.06 % of the overall costs, respectively). Sensitivity analyses confirmed the consistency of the baseline results. SCIG may be a cost-saving therapy for Italian CIDP patients.

  18. Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin.

    PubMed Central

    Dwulet, F E; Benson, M D

    1984-01-01

    Prealbumin from an individual with heredofamilial amyloid polyneuropathy of Swedish origin was isolated from plasma by using a three-step procedure involving ion exchange, Affi-gel Blue affinity chromatography, and gel filtration. This prealbumin and its associated amyloid fibril subunit protein were digested with trypsin and the resulting peptides were separated by high performance liquid chromatography. Comparison with normal prealbumin peptides showed that an amino acid substitution of a methionine for a valine had occurred at position 30. In the plasma prealbumin, the abnormal residue accounted for 1/3rd of the material while in the amyloid fibrils it accounted for 2/3rds. From this sequence information and the known three-dimensional structure of the prealbumin molecule, a mechanism for the amyloid formation is proposed. It involves formation of the amyloid fibrils by addition of prealbumin dimers or tetramers to the aggregate. Each dimer must contain at least one variant peptide chain while the tetramer must contain at least two abnormal chains. Either of these models can account for the observed amount of normal prealbumin in amyloid fibrils. No proteolytic processing of this molecule is required because the entire undegraded prealbumin molecule is found in the fibrils. PMID:6583672

  19. Comparative Clustering of Plantar Pressure Distributions in Diabetics with Polyneuropathy May Be Applied to Reveal Inappropriate Biomechanical Stress

    PubMed Central

    Niemann, Uli; Spiliopoulou, Myra; Szczepanski, Thorsten; Samland, Fred; Grützner, Jens; Senk, Dominik; Ming, Antao; Kellersmann, Juliane; Malanowski, Jan; Klose, Silke; Mertens, Peter R.

    2016-01-01

    In diabetic patients, excessive peak plantar pressure has been identified as major risk factor for ulceration. Analyzing plantar pressure distributions potentially improves the identification of patients with a high risk for foot ulceration development. The goal of this study was to classify regional plantar pressure distributions. By means of a sensor-equipped insole, pressure recordings of healthy controls (n = 18) and diabetics with severe polyneuropathy (n = 25) were captured across eight foot regions. The study involved a controlled experimental protocol with multiple sessions, where a session contained several cycles of pressure exposure. Clustering was used to identify subgroups of study participants that are characterized by similar pressure distributions. For both analyzed groups, the number of clusters to best describe the pressure profiles was four. When both groups were combined, analysis again led to four distinct clusters. While three clusters did not separate between healthy and diabetic volunteers the fourth cluster was only represented by diabetics. Here the pressure distribution pattern is characterized by a focal point of pressure application on the forefoot and low pressure on the lateral region. Our data suggest that pressure clustering is a feasible means to identify inappropriate biomechanical plantar stress. PMID:27529421

  20. A MODEL OF CHRONIC DIABETIC POLYNEUROPATHY: BENEFITS FROM INTRANASAL INSULIN ARE MODIFIED BY SEX AND RAGE DELETION.

    PubMed

    de la Hoz, Cristiane L; Cheng, Chu; Fernyhough, Paul; Zochodne, Douglas W

    2017-02-21

    Human diabetic polyneuropathy (DPN) is a progressive complication of chronic diabetes mellitus. Preliminary evidence has suggested that intranasal insulin, in doses insufficient to alter hyperglycemia, suppresses the development of DPN. In this work we confirm this finding, but demonstrate that its impact is modified by sex and deletion of RAGE, the receptor for advanced glycosylation endproducts. We serially evaluated experimental DPN in male and female wild type mice and male RAGE null (RN) mice, each with nondiabetic controls, during 16 weeks of diabetes, the final 8 weeks including groups given intranasal insulin. Age matched nondiabetic female mice had higher motor and sensory conduction velocities than their male counterparts and had lesser conduction slowing from chronic diabetes. Intranasal insulin improved slowing in both genders. In male RN mice, there was lesser conduction slowing with chronic diabetes and intranasal insulin provided limited benefits. Rotarod testing, and hindpaw grip power offered less consistent impacts . Mechanical sensitivity and thermal sensitivity were respectively but disparately changed and improved with insulin in wild type female and male mice but not RN male mice. These studies confirm that intranasal insulin improves indices of experimental DPN but indicates that females with DPN may differ in their underlying phenotype. RN mice had partial but incomplete protection from underlying DPN and lesser impacts from insulin. We also identify an important role for sex in the development of DPN and report evidence that insulin and AGE-RAGE pathways in its pathogenesis may overlap.

  1. Acute paretic syndrome in juvenile White Leghorn chickens resembles late stages of acute inflammatory demyelinating polyneuropathies in humans

    PubMed Central

    2010-01-01

    Background Sudden limb paresis is a common problem in White Leghorn flocks, affecting about 1% of the chicken population before achievement of sexual maturity. Previously, a similar clinical syndrome has been reported as being caused by inflammatory demyelination of peripheral nerve fibres. Here, we investigated in detail the immunopathology of this paretic syndrome and its possible resemblance to human neuropathies. Methods Neurologically affected chickens and control animals from one single flock underwent clinical and neuropathological examination. Peripheral nervous system (PNS) alterations were characterised using standard morphological techniques, including nerve fibre teasing and transmission electron microscopy. Infiltrating cells were phenotyped immunohistologically and quantified by flow cytometry. The cytokine expression pattern was assessed by quantitative real-time PCR (qRT-PCR). These investigations were accomplished by MHC genotyping and a PCR screen for Marek's disease virus (MDV). Results Spontaneous paresis of White Leghorns is caused by cell-mediated, inflammatory demyelination affecting multiple cranial and spinal nerves and nerve roots with a proximodistal tapering. Clinical manifestation coincides with the employment of humoral immune mechanisms, enrolling plasma cell recruitment, deposition of myelin-bound IgG and antibody-dependent macrophageal myelin-stripping. Disease development was significantly linked to a 539 bp microsatellite in MHC locus LEI0258. An aetiological role for MDV was excluded. Conclusions The paretic phase of avian inflammatory demyelinating polyradiculoneuritis immunobiologically resembles the late-acute disease stages of human acute inflammatory demyelinating polyneuropathy, and is characterised by a Th1-to-Th2 shift. PMID:20109187

  2. Family Therapy

    MedlinePlus

    Tests and Procedures Family therapy By Mayo Clinic Staff Family therapy is a type of psychological counseling (psychotherapy) that helps family members improve communication and resolve conflicts. Family therapy is usually provided ...

  3. Family Life

    MedlinePlus

    ... With Family and Friends > Family Life Request Permissions Family Life Approved by the Cancer.Net Editorial Board , ... your outlook on the future. Friends and adult family members The effects of cancer on your relationships ...

  4. Efficacy and Safety of Antioxidant Treatment With α-Lipoic Acid Over 4 Years in Diabetic Polyneuropathy

    PubMed Central

    Ziegler, Dan; Low, Phillip A.; Litchy, William J.; Boulton, Andrew J.M.; Vinik, Aaron I.; Freeman, Roy; Samigullin, Rustem; Tritschler, Hans; Munzel, Ullrich; Maus, Joachim; Schütte, Klemens; Dyck, Peter J.

    2011-01-01

    OBJECTIVE To evaluate the efficacy and safety of α-lipoic acid (ALA) over 4 years in mild-to-moderate diabetic distal symmetric sensorimotor polyneuropathy (DSPN). RESEARCH DESIGN AND METHODS In a multicenter randomized double-blind parallel-group trial, 460 diabetic patients with mild-to-moderate DSPN were randomly assigned to oral treatment with 600 mg ALA once daily (n = 233) or placebo (n = 227) for 4 years. Primary end point was a composite score (Neuropathy Impairment Score [NIS]–Lower Limbs [NIS-LL] and seven neurophysiologic tests). Secondary outcome measures included NIS, NIS-LL, nerve conduction, and quantitative sensory tests (QSTs). RESULTS Change in primary end point from baseline to 4 years showed no significant difference between treatment groups (P = 0.105). Change from baseline was significantly better with ALA than placebo for NIS (P = 0.028), NIS-LL (P = 0.05), and NIS-LL muscular weakness subscore (P = 0.045). More patients showed a clinically meaningful improvement and fewer showed progression of NIS (P = 0.013) and NIS-LL (P = 0.025) with ALA than with placebo. Nerve conduction and QST results did not significantly worsen with placebo. Global assessment of treatment tolerability and discontinuations due to lack of tolerability did not differ between the groups. The rates of serious adverse events were higher on ALA (38.1%) than on placebo (28.0%). CONCLUSIONS Four-year treatment with ALA in mild-to-moderate DSPN did not influence the primary composite end point but resulted in a clinically meaningful improvement and prevention of progression of neuropathic impairments and was well tolerated. Because the primary composite end point did not deteriorate significantly in placebo-treated subjects, secondary prevention of its progression by ALA according to the trial design was not feasible. PMID:21775755

  5. A diagnosis challenge-L4 nerve root compression as the initial presentation of chronic inflammatory demyelinating polyneuropathy.

    PubMed

    Cojocaru, Inimioara Mihaela; Alexianu, Marilena; Bastian, Alexandra; Sapira, Violeta; Herţea, Cristina; Cojocaru, M

    2012-01-01

    The authors present the case of a 65-year-old woman who was admitted for paraparesis and paresthesias in the inferior limbs. The neurological examination revealed the difficulty in extension of the right foot and of the right toe, accompanied by paresthesias located in the anterolateral area of the right leg, dorsum and plantar area of the foot, the reduction of the right knee jerk, and of the ankle tendon jerk both sides. The vertebro-spinal MRI showed lumbar canal stenosis with L4 intraforaminal compression on the right, and L2-L3 on the left. CSF examination revealed mild increase in protein concentration. The morphological picture of the sural nerve biopsy was compatible with a chronic inflammatory neuropathy and severe muscular lesions of neurogenic origin were observed on right gastrocnemius muscle biopsy. The diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP) was established. Solu-medrol (0.5 g/d)-5 days, then medrol (prednisolone) was done, followed by improving of the symptomatology. For the relapse of the disease intravenous immunoglobulins (IVIG)-0.4 g/kg/d-5 days was the elective treatment. Six months later she presented a new relapse. IVIG were administered with the remission of the sensitive symptoms. A chronic treatment with medrol was recommended. The diagnosis of L4 disc herniation was obvious in the studied case, but the electroneurographic examination brought extra data for the associated diagnosis of CIDP whose onset was asymmetrical and initially paucisymptomatic. Neither the electroneurographic examination nor the CSF examination were total relevant for CIDP, imposing the sural nerve biopsy. The diagnosis of CIDP involves a team-work composed of neurologist, electroneurophysiologist and neuropathologist.

  6. Multifocal Motor Neuropathy, Multifocal Acquired Demyelinating Sensory and Motor Neuropathy and Other Chronic Acquired Demyelinating Polyneuropathy Variants

    PubMed Central

    Barohn, Richard J.; Katz, Jonathan

    2014-01-01

    Chronic acquired demyelinating neuropathies (CADP) are an important group of immune neuromuscular disorders affecting myelin. These are distinct from chronic inflammatory demyelinating polyneuropathy (CIDP). Classically, CIDP is characterized by proximal and distal weakness, large fiber sensory loss, elevated cerebrospinal fluid (CSF) protein content, demyelinating changes nerve conduction studies or nerve biopsy, and response to immunomodulating treatment. In this chapter we discuss CADP with emphasis on multifocal motor neuropathy (MMN), multifocal acquired demyelinating sensory and motor neuropathy (MADSAM), distal acquired demyelinating symmetric (DADS) neuropathy and conclude with less common variants. While each of these entities has distinctive laboratory and electrodiagnostic features that aid in their diagnosis, clinical characteristics are of paramount importance in diagnosing specific conditions and determining the most appropriate therapies. Unlike CIDP, MMN is typically asymmetric and affects only the motor nerve fibers. MMN is a rare disease that presents chronically, over several years of progression affecting the arms are more commonly than the legs. Men are more likely than women to develop MMN. MADSAM should be suspected in patients who have weakness and loss of sensation in primarily one arm or leg which progresses slowly over several months to years. It is important in patient with multifocal demyelinating clinical presentation to distinguish MMN from MADSAM since corticosteroids are not effective in MMN where the mainstay of therapy is intravenous gammaglobulin (IVIg). DADS can be subdivided into DADS-M (associated woth M-protein) and DADS-I which is idioapthic. While DADS-I patients respond somewhat to immunotherapy, DADS-M patients present with distal predominant sensorimotor demyelinating neuropathy phenotype and are notoriously refractory to immunotherapies regardless of antibodies to myelin-associated glycoprotein (MAG). Our knowledge

  7. transthyretin — EDRN Public Portal

    Cancer.gov

    Transthyretin, one of the three prealbumins including alpha-1-antitrypsin, transthyretin and orosomucoid, is a carrier protein that transports thyroid hormones in the plasma and cerebrospinal fluid, and also transports retinol (vitamin A) in the plasma. TT consists of a tetramer of identical subunits. More than 80 different mutations in this gene have been reported; most mutations are related to amyloid deposition, affecting predominantly peripheral nerve and/or the heart, and a small portion of the gene mutations is non-amyloidogenic. The diseases caused by mutations include amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis, and carpal tunnel syndrome.

  8. Family Folklore

    ERIC Educational Resources Information Center

    Kotkin, Amy J.; Baker, Holly C.

    1977-01-01

    Discusses the Family Folklore Program of the Smithsonian Institution's annual Festival of American Folklife, in which the whole family can be involved in tracing family history through story telling, photographs, etc. (MS)

  9. Familial hypertriglyceridemia

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/000397.htm Familial hypertriglyceridemia To use the sharing features on this page, please enable JavaScript. Familial hypertriglyceridemia is a common disorder passed down through families. ...

  10. Family History

    MedlinePlus

    Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, ... as heart disease, stroke, and cancer. Having a family member with a disease raises your risk, but ...

  11. Family Arguments

    MedlinePlus

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Arguments Page Content Article Body We seem to ...

  12. Family Literacy

    ERIC Educational Resources Information Center

    Holloway, John H.

    2004-01-01

    Research indicates that family literacy programs can provide opportunities for educational success for parents and children. The benefits reaped by the children in family literacy workshops are presented.

  13. Comparative analysis of the effects combined physical procedures and alpha-lipoic acid on the electroneurographic parameters of patients with distal sensorimotor diabetic polyneuropathy

    PubMed Central

    Grbovic, Vesna; Jurisic-Skevin, Aleksandra; Djukic, Svetlana; Stefanović, Srdjan; Nurkovic, Jasmin

    2016-01-01

    [Purpose] Painful diabetic polyneuropathy occurs as a complication in 16% of all patients with diabetes mellitus. [Subjects and Methods] A clinical, prospective open-label randomized intervention study was conducted of 60 adult patients, with distal sensorimotor diabetic neuropathy two groups of 30 patients, with diabetes mellitus type 2 with distal sensorimotor diabetic neuropathy. Patients in group A were treated with combined physical procedures, and patients in group B were treated with alpha lipoic acid. [Results] There where a statistically significant improvements in terminal latency and the amplitude of the action potential in group A patients, while group B patients showed a statistically significant improvements in conduction velocity and terminal latency of n. peroneus. Group A patients showed a statistically significant improvements in conduction velocity and terminal latency, while group B patients also showed a statistically significant improvements in conduction velocity and terminal latency. This was reflected in a significant improvements in electrophysiological parameters (conduction velocity, amplitude and latency) of the motor and sensory nerves (n. peroneus, n. suralis). [Conclusion] These results present further evidence justifying of the use of physical agents in the treatment of diabetic sensorimotor polyneuropathy. PMID:27065527

  14. Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)

    PubMed Central

    Jerath, Nivedita U.; Grider, Tiffany; Shy, Michael E.

    2015-01-01

    Introduction. Hereditary Spastic Paraplegia (HSP) is a rare hereditary disorder that primarily involves progressive spasticity of the legs (hamstrings, quadriceps, and calves). Methods. A 27-year-old gentleman was a fast runner and able to play soccer until age 9 when he developed slowly progressive weakness. He was wheelchair-bound by age 25. He was evaluated by laboratory testing, imaging, electrodiagnostics, and molecular genetics. Results. Electrodiagnostic testing revealed an axonal sensorimotor polyneuropathy. Genetic testing for HSP in 2003 was negative; repeat testing in 2013 revealed a mutation in KIF5A (c.611G>A;p.Arg204Gln). Conclusions. A recent advance in neurogenetics has allowed for more genes and mutations to be identified; over 76 different genetic loci for HSP and 59 gene products are currently known. Even though our patient had a sensorimotor polyneuropathy on electrodiagnostic testing and a 2003 HSP genetic panel that was negative, a repeat HSP genetic panel was performed in 2013 due to the advancement in neurogenetics. This revealed a mutation in KIF5A. PMID:26543653

  15. A Case of Cauda Equina Syndrome in Early-Onset Chronic Inflammatory Demyelinating Polyneuropathy Clinically Similar to Charcot-Marie-Tooth Disease Type 1

    PubMed Central

    Lee, Seung Eun; Ha, Sam Yeol; Nam, Taek Kyun

    2014-01-01

    To present a case of cauda equina syndrome (CES) caused by chronic inflammatory demyelinating polyneuropathy (CIDP) which seemed clinically similar to Charcot-Marie-Tooth disease type1 (CMT1). CIDP is an immune-mediated polyneuropathy, either progressive or relapsing-remitting. It is a non-hereditary disorder characterized by symmetrical motor and sensory deficits. Rarely, spinal nerve roots can be involved, leading to CES by hypertrophic cauda equina. A 34-year-old man presented with low back pain, radicular pain, bilateral lower-extremity weakness, urinary incontinence, and constipation. He had had musculoskeletal deformities, such as hammertoes and pes cavus, since age 10. Lumbar spine magnetic resonance imaging showed diffuse thickening of the cauda equina. Electrophysiological testing showed increased distal latency, conduction blocks, temporal dispersion, and severe nerve conduction velocity slowing (3 m/s). We were not able to find genetic mutations at the PMP 22, MPZ, PRX, and EGR2 genes. The pathologic findings of the sural nerve biopsy revealed thinly myelinated nerve fibers with Schwann cells proliferation. We performed a decompressive laminectomy, intravenous IgG (IV-IgG) and oral steroid. At 1 week after surgery, most of his symptoms showed marked improvements except foot deformities. There was no relapse or aggravation of disease for 3 years. We diagnosed the case as an early-onset CIDP with cauda equine syndrome, whose initial clinical findings were similar to those of CMT1, and successfully managed with decompressive laminectomy, IV-IgG and oral steroid. PMID:25237436

  16. Experience and challenges presented by a multicenter crossover study of combination analgesic therapy for the treatment of painful HIV-associated polyneuropathies

    PubMed Central

    Harrison, Taylor; Miyahara, Sachiko; Lee, Anthony; Evans, Scott; Bastow, Barbara; Simpson, David; Gilron, Ian; Dworkin, Robert; Daar, Eric S.; Wieclaw, Linda; Clifford, David B.

    2014-01-01

    Objective There is limited evidence for efficacy of analgesics as monotherapy for neuropathic pain associated with HIV-associated polyneuropathies, in spite of demonstrated efficacy in other neuropathic pain conditions. We evaluated the tolerability and analgesic efficacy of duloxetine, methadone, and the combination of duloxetine-methadone compared to placebo. Design This study was a phase II, randomized, double blind, placebo-controlled, four-period crossover multi-center study of analgesic therapy for patients with at least moderate neuropathic pain due to HIV-associated polyneuropathy. Duloxetine, methadone, combination duloxetine-methadone, and placebo were administered in four different possible sequences. The primary outcome measure was mean pain intensity (MPI) measured daily in a study-supplied pain diary. Results A total of 15 patients were enrolled from 8 study sites and 8 patients completed the entire trial. Study treatments failed to show statistically significant change in MPI compared to placebo. Adverse events were frequent and associated with high rates of drug discontinuation and study drop-out. Conclusions Challenges with participant recruitment and poor retention precluded trial completion to its planned targets, limiting our evaluation of the analgesic efficacy of the study treatments. Challenges to successful completion of this study and lessons learned are discussed. PMID:23565581

  17. Muslim families and family therapy.

    PubMed

    Daneshpour, M

    1998-07-01

    Muslim immigrant families living in the United States may well come to the attention of mental health professionals. This article examines the applicability of the Anglo-American models of family therapy to Muslim immigrant families. The most significant differences in value systems between the Muslim and Anglo-American cultures is Muslim families' preference for greater connectedness, a less flexible and more hierarchical family structure, and an implicit communication style. Systemic thinking, which deals with the pattern of relationships, is valid for all families regardless of cultural differences. However, the preferred directions of change for Muslim families need to be integrated into the assessment and goals for family therapy.

  18. Family Privilege

    ERIC Educational Resources Information Center

    Seita, John R.

    2014-01-01

    Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…

  19. Electrotonic potentials in simulated chronic inflammatory demyelinating polyneuropathy at 20°C-42°C.

    PubMed

    Stephanova, D I; Daskalova, M

    2015-06-01

    Threshold electrotonus changes have been studied following warming to 37°C and cooling to 25°C in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). To extend the tracking of these changes also during hypothermia (≤ 25°C) and hyperthermia (≥ 40°C), and to explain their mechanisms, we investigate the effects of temperature (from 20°C to 42°C) on polarizing nodal and internodal electrotonic potentials and their current kinetics in previously simulated case of 70% CIDP. The computations use our temperature-dependent multi-layered model of the myelinated human motor nerve fiber. While the changes of electrotonic potentials and their current kinetics are largely similar for the physiological range of 28-37°C, they are altered during hypothermia and hyperthermia in the normal and CIDP cases. The normal (at 37°C) resting membrane potential is further depolarized or hyperpolarized during hypothermia or hyperthermia, respectively, and the internodal current types defining these changes are the same for both cases. Unexpectedly, our results show that in the CIDP case, the lowest and highest critical temperatures for blocking of electrotonic potentials are 20°C and 39°C, while in the normal case the highest critical temperature for blocking of these potentials is 42°C. In the temperature range of 20-39°C, the relevant potentials in the CIDP case, except for the lesser value (at 39°C) in hyperpolarized resting membrane potential, are modified: (i) polarizing nodal and depolarizing internodal electrotonic potentials and their defining currents are increased in magnitude; (ii) inward rectifier (I IR ) and leakage (I Lk ) currents, defining the hyperpolarizing internodal electrotonic potential, are gradually increased with the rise of temperature from 20°C to 39°C, and (iii) the accommodation to long-lasting hyperpolarization is greater than to depolarization. The present results suggest that the electrotonic potentials in patients with

  20. Muslim Families and Family Therapy.

    ERIC Educational Resources Information Center

    Daneshpour, Manijeh

    1998-01-01

    Examines the applicability of the Anglo-American models of family therapy to Muslim immigrant families. The differences in value systems are the Muslim families' preferences for greater connectedness, a less flexible and more hierarchical family structure, and an implicit communication style. Suggests that directions for change for Muslims need to…

  1. Family Violence and Family Physicians

    PubMed Central

    Herbert, Carol P.

    1991-01-01

    The acronym IDEALS summarizes family physicians' obligations when violence is suspected: to identify family violence; document injuries; educate families and ensure safety for victims; access resources and coordinate care; co-operate in the legal process; and provide support for families. Failure to respond reflects personal and professional experience and attitudes, fear of legal involvement, and lack of knowledge. Risks of intervention include physician burnout, physician overfunctioning, escalation of violence, and family disruption. PMID:21228987

  2. Family Violence

    MedlinePlus

    ... Deployment & Transition Home » Health & Wellness » Family Violence Family Violence Recognize the warning signs . Know how to report. ... Love Every Day Making Relationships Work National Domestic Violence Hotline Signs of Child Abuse INSTALLATION PROGRAM DIRECTORY ...

  3. Family Involvement.

    ERIC Educational Resources Information Center

    Liontos, Lynn Balster

    1992-01-01

    Family involvement in schools will work only when perceived as an enlarged concept focusing on all children, including those from at-risk families. Each publication reviewed here is specifically concerned with family involvement strategies concerned with all children or targeted at primarily high risk students. Susan McAllister Swap looks at three…

  4. Family Support.

    ERIC Educational Resources Information Center

    Wieck, Colleen, Ed.; McBride, Marijo, Ed.

    1990-01-01

    This "Feature Issue" of the quarterly journal "Impact" presents 19 brief articles on family support systems in the United States for persons with developmental disabilities and their families. Emphasis is on provisions of Public Law 99-457. Articles include: "Family Support in the United States: Setting a Course for the…

  5. Rare combination of bilateral putaminal necrosis, optic neuritis, and polyneuropathy in a case of acute methanol intoxication among patients met with hooch tragedy in Gujarat, India

    PubMed Central

    Jarwani, Bhavesh S; Motiani, Puja; Divetia, Ruchir; Thakkar, Gurudutta

    2012-01-01

    Methanol poisoning is a rare but extremely hazardous form of intoxication, generally occurring after suicidal or accidental events. Methanol is a cheap and potent adulterant of illicit liquors. In India, we have witnessed number of mass emergencies due to adulterated alcohol consumption. Although Gujarat State had banned alcohol consumption since 1961, worse hooch tragedies have often taken place. The most severe consequences of methanol intoxication are blindness, a profound metabolic acidosis and various forms of neurological impairment; which occur characteristically after a latent period of several hours or days after ingestion. We present a unique case of acute methanol intoxication presented with, apart from metabolic acidosis and optic neuritis, involvement of central nervous system and peripheral nervous system. He had bilateral optic neuritis, delayed onset polyneuropathy with axonopathy, and radiculopathy. Magnetic resonance imaging findings were consistent with bilateral putaminal necrosis. PMID:23248510

  6. Effect of Ranirestat on Sensory and Motor Nerve Function in Japanese Patients with Diabetic Polyneuropathy: A Randomized Double-Blind Placebo-Controlled Study

    PubMed Central

    Satoh, Jo; Kohara, Nobuo; Sekiguchi, Kenji; Yamaguchi, Yasuyuki

    2016-01-01

    We conducted a 26-week oral-administration study of ranirestat (an aldose reductase inhibitor) at a once-daily dose of 20 mg to evaluate its efficacy and safety in Japanese patients with diabetic polyneuropathy (DPN). The primary endpoint was summed change in sensory nerve conduction velocity (NCV) for the bilateral sural and proximal median sensory nerves. The sensory NCV was significantly (P = 0.006) improved by ranirestat. On clinical symptoms evaluated with the use of modified Toronto Clinical Neuropathy Score (mTCNS), obvious efficacy was not found in total score. However, improvement in the sensory test domain of the mTCNS was significant (P = 0.037) in a subgroup of patients diagnosed with neuropathy according to the TCNS severity classification. No clinically significant effects on safety parameters including hepatic and renal functions were observed. Our results indicate that ranirestat is effective on DPN (Japic CTI-121994). PMID:26881251

  7. Italian families and family interventions.

    PubMed

    Casacchia, Massimo; Roncone, Rita

    2014-06-01

    In Italy, as in many countries, relatives are closely involved in caring for persons with physical and mental disorders. The Italian scenario lends itself to routine involvement of family members in psychiatric treatment because, despite becoming smaller and smaller, Italian families keep close ties, and men and women do not leave the parental home until relatively late. The authors describe the impact of international family psychosocial research on the Italian mental health services (MHSs) and the main psychosocial interventions currently in use, including family psychoeducational interventions and the "Milan family therapy approach." They also highlight the contribution Italian researchers have given to the study of important variables in integrated mental disorder care, such as family burden of care, relatives' attitudes, family functioning, and satisfaction with the MHSs. Finally, they discuss the difficulties of implementing and disseminating family interventions within the Italian MHS, despite the growing evidence of their effectiveness.

  8. Chronic inflammatory demyelinating polyneuropathy.

    PubMed

    Gorson, Kenneth C; Katz, Jonathan

    2013-05-01

    Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune disorder of the peripheral nervous system. This article highlights our current understanding of the condition along with its phenotypic variants that are encountered in clinical practice. The diagnostic evaluation of CIDP includes laboratory studies to detect associated medical conditions and electrodiagnostic studies to assess for demyelination. Current treatment options include corticosteroids, plasma exchange, and intravenous immune globulin, along with alternative therapies that may be used as corticosteroid-sparing agents or for treatment-refractory cases. Approximately 85% to 90% of patients eventually improve or stabilize with treatment, and the long-term prognosis of CIDP is favorable.

  9. Roles within the Family

    MedlinePlus

    ... Family Life Family Life Family Life Medical Home Family Dynamics Media Work & Play Getting Involved in Your Community ... AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care Communication & Discipline Types of Families ...

  10. Improving Family Communications

    MedlinePlus

    ... Family Life Family Life Family Life Medical Home Family Dynamics Media Work & Play Getting Involved in Your Community ... AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care Communication & Discipline Types of Families ...

  11. Family Life.

    ERIC Educational Resources Information Center

    Naturescope, 1986

    1986-01-01

    Focuses on various aspects of mammal family life ranging from ways different species are born to how different mammals are raised. Learning activities include making butter from cream, creating birth announcements for mammals, and playing a password game on family life. (ML)

  12. Family Reunification

    ERIC Educational Resources Information Center

    Wulczyn, Fred

    2004-01-01

    Reunifying children placed in foster care with their birth parents is a primary goal of the child welfare system. Yet, relatively little is known about the reunification process. This article analyzes new data on trends in family reunification and discovers: (1) Although most children still exit foster care through family reunification, exit…

  13. Family Empowerment.

    ERIC Educational Resources Information Center

    Sinclair, Mary F., Ed.; And Others

    1992-01-01

    This feature issue of IMPACT focuses on the empowerment of families with a member who has a developmental disability. It presents strategies and models for a collaborative, respectful approach to service provision, and presents the experiences of families in seeking support and assistance. Feature articles include "Two Generations of…

  14. Family Workshops

    ERIC Educational Resources Information Center

    Bennett, Dave; Rees-Jones, Tanny

    1978-01-01

    A Family Workshop is an informal, multidisciplined educational program for adults and children, organized by a team of teachers. This article discusses the Lavender Hill Family Workshop, one of many, which attempts to provide education in various subject areas for adults and for children while also integrating both objectives in order to educate…

  15. Family, Extended

    ERIC Educational Resources Information Center

    Patton, Jessica Rae

    2006-01-01

    Parents are a child's first and most influential teacher. People hear this truism often, yet nowhere has the author seen it more taken to heart than at Tower Street Elementary School. The school's efforts to form a true partnership with students' families--from involving families in the first day of school, to the principal making home visits, to…

  16. Family Potyviridae

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The International Committee on the Taxonomy of Viruses potyvirus study group has revised the description of the family Potyviridae for inclusion in the ICTV 9th report. Characteristic features of each genus within the family is presented. Revised criteria for demarcation and nomenclature of viral sp...

  17. Family Health and Family Planning.

    ERIC Educational Resources Information Center

    World Health Organization, Copenhagen (Denmark). Regional Office for Europe.

    This document is made up of a selection of some of the papers distributed to participants in courses on "Family Health and Family Planning" which have been organized each year since 1973 by the International Children's Center and the World Health Organization Regional Office for Europe. Six courses, held between 1973 and 1978, brought together a…

  18. Asteroid families

    NASA Astrophysics Data System (ADS)

    Nesvorný, David; Bottke, William F.; Vokrouhlický, David; Morbidelli, Alessandro; Jedicke, Robert

    An asteroid family is a group of asteroids with similar orbits and spectra that was produced by a collisional breakup of a large parent body. To identify asteroid families, researchers look for clusters of asteroid positions in the space of proper orbital elements. These elements, being more constant over time than osculating orbital elements, provide a dynamical criterion of whether a group of bodies has a common ancestor. More than fifty asteroid families have been identified to date. Their analysis produced several important insights into the physics of large scale collisions, dynamical processes affecting small bodies in the Solar System, and surface and interior properties of asteroids.

  19. Familial dysautonomia

    MedlinePlus

    Riley-Day syndrome; FD; Hereditary sensory and autonomic neuropathy - type III (HSAN III); Autonomic crises - familial dysautonomia ... PA: Elsevier; 2016:chap 107. Sarnat HB. Autonomic neuropathies. In: Kliegman RM, Stanton BF, St. Geme JW, ...

  20. Unusual families.

    PubMed

    Golombok, Susan

    2005-03-01

    The introduction of assisted reproduction has led to unusual forms of procreation. This article describes the social consequences of lesbian motherhood and of families headed by single heterosexual mothers.

  1. Family dysfunction

    PubMed Central

    Hayaki, Chie; Anno, Kozo; Shibata, Mao; Iwaki, Rie; Kawata, Hiroshi; Sudo, Nobuyuki; Hosoi, Masako

    2016-01-01

    Abstract Previous studies have shown differences in the psychosocial factors related to chronic localized pain (CLP) and chronic widespread pain (CWP). However, no studies have done an evaluation of differences between CLP and CWP from the viewpoint of family functioning. We did a cross-sectional study in a tertiary care setting to investigate possible differences in the relation of CWP and CLP to family functioning. Patients with CLP (N = 126) or CWP (N = 75) were assessed for family functioning by the Family Assessment Device (FAD) and a comparison was done. Logistic regression analysis was used to estimate associations of family functioning subscales with pain status (CWP vs CLP), controlling for demographic variables, pain variables; pain duration, pain ratings, pain disability, and psychological factors; depression, anxiety, and catastrophizing. The odds ratios (ORs) for the presence of CWP were calculated. Compared to patients with CLP, patients with CWP showed a lower functional status for Roles and Affective Involvement. The ORs for CWP were significantly higher in lower functioning Roles (OR: 2.38, 95% CI: 1.21–4.65) and Affective Involvement (OR: 2.86, 95% CI: 1.56–5.24) after adjusting for demographic variables. The significant association of CWP to Roles and Affective Involvement remained after controlling for the pain variables and psychological factors. This study shows that the families of patients with CWP have poorer family functioning than those with CLP. Our findings suggest that early identification and interventions for the family dysfunction of chronic pain patients are important to the treatment and prevention of CWP. PMID:27930535

  2. Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia

    PubMed Central

    Cevik, Betul; Aksoy, Durdane; Sahbaz, E. Irmak; Basak, A. Nazli

    2016-01-01

    Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. The GAA repeat expansion in the frataxin gene was shown in all of the family members except in a young female patient. MRI revealed arachnoid cysts in two patients; MRI was consistent with both cavum septum pellucidum-cavum vergae and nodular signal intensity increase in one patient. EMG showed demyelinating sensorimotor polyneuropathy in another patient. The GAA expansion-negative 11-year-old female patient had mental-motor retardation, epilepsy, and ataxia. None of the patients had significant cardiac symptoms. Description of FRDA families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease. Furthermore, the genetic heterogeneity observed in this family draws attention to the difficulty of genetic counseling in an inbred population and to the need for genotyping all affected members before delivering comprehensive genetic counseling. PMID:27668106

  3. Family welfare.

    PubMed

    Sinha, N K

    1992-01-01

    Between 1901-1921, India gained 12.9 million people because mortality remained high. The death rate fell between 1921-1951, but birth rates remained the same. Therefore 110 million people were added--2 times the population increase between 1891-1921. Between 1951-1981, the population increased to 324 million. Socioeconomic development was responsible for most of the downward trend in the birth rate during the 20th century. Even though large families were the norm in early India, religious leaders encouraged small family size. The 1st government family planning clinics in the world opened in Mysore and Bangalore in 1930. Right before Independence, the Bhore Committee made recommendations to reduce population growth such as increasing the age of marriage for girls. Since 1951 there has been a change in measures and policies geared towards population growth with each of the 7 5-Year Plans because policy makers applied what they learned from each previous plan. The 1st 5-Year Plan emphasized the need to understand what factors contribute to population growth. It also integrated family planning services into health services of hospitals and health centers. The government was over zealous in its implementation of the sterilization program (2nd 5-Year Plan, 1956-1961), however, which hurt family planning programs for many years. As of early 1992, sterilization, especially tubectomy, remained the most popular family planning method, however. The 7th 5-Year Plan changed its target of reaching a Net Reproductive Rate of 1 by 2001 to 2006-2011. It set a goal of 100% immunization coverage by 1990 but it did not occur. In 1986, the Ministry of Health and Family Welfare planned to make free contraceptives available in urban and rural areas and to involve voluntary organizations. The government needs to instill measures to increase women's status, women's literacy, and age of marriage as well as to eliminate poverty, ensure old age security, and ensure child survival and

  4. Toxicological assessment of isomeric pesticides: a strategy for testing of chiral organophosphorus (OP) compounds for delayed polyneuropathy in a regulatory setting.

    PubMed

    Battershill, Jon M; Edwards, Philippa M; Johnson, Martin K

    2004-08-01

    Many compounds, including some pesticides, contain structural centres of asymmetry, which convey the property of a type of stereoisomerism known as chirality. Such compounds can exist in two or more forms, depending on the number of chiral atoms and are termed stereoisomers or enantiomers. Stereoisomers of a particular compound can have different biological properties; one such of particular importance for toxicological evaluation, is the potential for differences in metabolic disposal of and binding of stereoisomers to molecular targets in the cell. The combination of differential metabolism of chiral organophosphorus (OP) pesticides and opposing stereoselectivity of inhibition of neuropathy target esterase (NTE) and acetylcholinesterase (AChE) can affect the value of the hen test, performed to OECD guidelines, in predicting the potential to cause organophosphate-induced delayed polyneuropathy (OPIDP) in humans. This is a mixed central and sensory and motor neuropathy. The experimental data on structural analogues of the pesticide methamidophos and the evidence for stereoselective OPIDP are reviewed and a model is given demonstrating how the properties of a chiral OP can result in the neuropathic potential not being detected by the standard hen test. A strategy for the assessment of a racemic mixture comprised of two OP enantiomers for the potential to induce OPIDP is outlined. The strategy uses information from structure activity relationships (SAR), in vitro tests and in vivo tests to allow risk assessment decisions to be made. It is suggested that the potential for stereoselective toxicity of pesticides should be routinely considered in regulatory assessments.

  5. Early Electrodiagnostic Features of Upper Extremity Sensory Nerves Can Differentiate Axonal Guillain-Barré Syndrome from Acute Inflammatory Demyelinating Polyneuropathy

    PubMed Central

    Koo, Yong Seo; Shin, Ha Young; Kim, Jong Kuk; Nam, Tai-Seung; Shin, Kyong Jin; Bae, Jong-Seok; Suh, Bum Chun; Oh, Jeeyoung; Yoon, Byeol-A

    2016-01-01

    Background and Purpose Serial nerve conduction studies (NCSs) are recommended for differentiating axonal and demyelinating Guillain-Barré syndrome (GBS), but this approach is not suitable for early diagnoses. This study was designed to identify possible NCS parameters for differentiating GBS subtypes. Methods We retrospectively reviewed the medical records of 70 patients with GBS who underwent NCS within 10 days of symptom onset. Patients with axonal GBS and acute inflammatory demyelinating polyneuropathy (AIDP) were selected based on clinical characteristics and serial NCSs. An antiganglioside antibody study was used to increase the diagnostic certainty. Results The amplitudes of median and ulnar nerve sensory nerve action potentials (SNAPs) were significantly smaller in the AIDP group than in the axonal-GBS group. Classification and regression-tree analysis revealed that the distal ulnar sensory nerve SNAP amplitude was the best predictor of axonal GBS. Conclusions Early upper extremity sensory NCS findings are helpful in differentiating axonal-GBS patients with antiganglioside antibodies from AIDP patients. PMID:27819421

  6. POEMS Syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy and Skin Changes) Treated with Autologous Hematopoietic Stem Cell Transplantation: A Case Report and Literature Review

    PubMed Central

    Arana, Carlos; Pérez de León, José Antonio; Gómez-Moreno, Gerardo; Pérez-Cano, Ramón; Hernández, Tomás Martín

    2015-01-01

    Patient: Male, 62 Final Diagnosis: POEMS syndrome Symptoms: General malaise • pretibial edemas • weight loss Medication: — Clinical Procedure: Autologous hematopoietic stem cell transplantation Specialty: Hematology Objective: Rare disease Background: POEMS syndrome is a rare systemic pathology of paraneoplastic origin that is associated with plasma cell dyscrasia. It is characterized by the presence of sensorimotor polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin changes, and other systemic manifestations. The pathogenesis of the syndrome is unknown but over-production of vascular endothelial growth factor is probably responsible for most of the more characteristic symptoms. There is no standard treatment for POEMS syndrome and no randomized controlled clinical trials of treatment exist in the available literature. High-dose melphalan with autologous hematopoietic stem cell transplantation should be considered for younger patients with widespread osteosclerotic lesions, and for patients with rapidly progressive neuropathy. Case Report: This is the case of a 62-year-old Caucasian man who was admitted to our center presenting pretibial edema accompanied by significant weight loss and difficulty walking. POEMS criteria were present and an immunofixation test confirmed the presence of a monoclonal plasmaproliferative disorder. After autologous hematopoietic stem cell transplantation, the monoclonal component disappeared and the patient’s clinical status improved markedly. Conclusions: Autologous hematopoietic stem cell transplantation following high-dose melphalan is an effective therapy for younger patients with widespread osteosclerotic lesions in POEMS syndrome. PMID:25726020

  7. Secretion of DJ-1 into the serum of patients with Parkinson's disease.

    PubMed

    Maita, Chinatsu; Tsuji, Sachiko; Yabe, Ichiro; Hamada, Shinsuke; Ogata, Akihiko; Maita, Hiroyhsi; Iguchi-Ariga, Sanae M M; Sasaki, Hidenao; Ariga, Hiroyoshi

    2008-01-24

    DJ-1 was initially identified by us as a novel oncogene and has later been found to be a causative gene for familial Parkinson's disease PARK7. DJ-1 plays role in transcriptional regulation and in oxidative stress function, and loss of its function is thought to be related to onset age, mode of progression and clinical severity of both familial and sporadic forms of Parkinson's disease (PD). DJ-1 is localized both in the cytoplasm and nucleus, and it has been reported to be secreted into the serum or plasma of patients with breast cancer, melanoma, familial amyloidotic polyneuropathy and stroke. In this study, levels of DJ-1 secreted into the serum of healthy controls and patients with sporadic PD were examined by using a DJ-1 ELISA kit, and the level of oxidative stress in the serum was also measured. The results showed that DJ-1 was secreted into the serum of both healthy controls and PD patients. There was no significant difference between the levels of secreted DJ-1 in two groups, and correlations of levels of secreted DJ-1 with age, clinical severity of PD and level of oxidative stress were not found.

  8. Mercury vapor inhalation and poisoning of a family.

    PubMed

    Oz, Serife Gul; Tozlu, Mukaddes; Yalcin, Songul Siddika; Sozen, Tumay; Guven, Gulay Sain

    2012-08-01

    Acute mercury vapor poisoning is a rare but fatal toxicological emergency. People are exposed to mercury in daily life by the way of foods, vaccines, antiseptics, ointments, amalgam or occupation. We present here, the clinical picture and management of four members of the same family who were exposed to elemental mercury. Three of the family members were seen in another hospital with malaise, fever, eritematous rash and pulmonary problems. Their questioning revealed the mercury exposure. Having a suspicion of heavy metal intoxication, blood and urine mercury levels were measured and mercury intoxication was diagnosed. On admission to our hospital, two patients already had chelation therapy. In three of them we found three distinct abnormalities: encephalopathy, nephrotic syndrome and polyneuropathy. The fourth family member had minor symptoms. This family is an example for the inhalation exposure resulting from inappropriate handling of liquid mercury. During the first days, flu like illness ensues. Then, severe pulmonary, neurological, renal, hepatic, hematological and dermatological dysfunctions develop. Blood and urine mercury levels should be tested on suspicion, but it must be kept in mind that blood level is unreliable in predicting the severity of mercury toxicity. The priority in the treatment should be removing the patient from the source of exposure. Then British anti-Lewisite, edetate calcium disodium, penicillamine, Sodium 2,3-dimercaptopropane-1-sulfhonate and 2,3-dimercaptosuccinic acid can be used for binding the mercury. We conclude that since mercury-containing devices are present in daily life, physicians must be able to recognize the clinical manifestations and treatment of mercury poisoning.

  9. Family Hypnotherapy.

    ERIC Educational Resources Information Center

    Araoz, Daniel L.; Negley-Parker, Esther

    1985-01-01

    A therapeutic model to help families activate experiential and right hemispheric functioning through hypnosis is presented in detail, together with a clinical illustration. Different situations in which this model is effective are mentioned and one such set of circumstances is described. (Author)

  10. Small Families

    MedlinePlus

    ... more emphasis on careers for women, more effective methods of contraception, and the rising cost of rearing and educating children. There are some very clear benefits to having a small family; Each child receives more parental attention and educational advantages, which generally raise her self- ...

  11. Serving Families.

    ERIC Educational Resources Information Center

    Link, Geoffrey; Beggs, Marjorie; Seiderman, Ethel

    Parent Services Project (PSP), the first comprehensive program of resources and mental health activities for parents offered at child care centers in the San Francisco Bay Area (California), has expanded to centers in six states, serving over 19,000 families. This report describes the program's history, aims, and achievements, along with specific…

  12. Family Violence.

    ERIC Educational Resources Information Center

    Sorgen, Carol, Ed.

    1979-01-01

    This quarterly publication, issued by the National Institute on Alcohol Abuse and Alcoholism (NIAAA), contains articles dealing with family violence and alcohol abuse, children of alcoholic parents, training programs for counselors, and confidentiality of client records. The three articles on alcohol abuse suggest that: (1) there is a clear…

  13. Family Disruptions

    MedlinePlus

    ... and Returns Do you or your spouse frequently travel on business? These can be disruptive times for your child and for the family as ... these out-of-town trips. Spend as much time as it takes to explain where you are ... before and during your travels. You need to acknowledge and accept her feelings: " ...

  14. FAMILY TYMOVIRIDAE

    Technology Transfer Automated Retrieval System (TEKTRAN)

    This article provides a brief review of the taxonomic structure, virion properties, genome organization and replication strategy, antigenic properties, and biological properties of viruses in the family Tymoviridae. Criteria for demarcation of genus and species are provided. A brief review of each...

  15. FAMILY LAUXANIIDAE.

    PubMed

    Silva, Vera Cristina

    2016-06-14

    An updated Catalogue of the Lauxaniidae of Colombia is presented. This acalyptratae family is poorly known in Colombia, with only 36 described species in 33 genera. This paper expands the distribution of 24 species to Colombia. At total, 63 species are reported here for Colombia.

  16. Family Structure and Family Processes in Mexican American Families

    PubMed Central

    Zeiders, Katharine H.; Roosa, Mark W.; Tein, Jenn-Yun

    2010-01-01

    Despite increases in single-parent families among Mexican Americans (MA), few studies have examined the association of family structure and family adjustment. Utilizing a diverse sample of 738 Mexican American families (21.7% single parent), the current study examined differences across family structure on early adolescent outcomes, family functioning, and parent-child relationship variables. Results revealed that early adolescents in single parent families reported greater school misconduct, CD/ODD and MDD symptoms, and greater parent-child conflict than their counterparts in two parent families. Single parent mothers reported greater economic hardship, depression and family stress. Family stress and parent-child conflict emerged as significant mediators of the association between family structure and early adolescent outcomes, suggesting important processes linking MA single parent families and adolescent adjustment. PMID:21361925

  17. Family Therapy and Disturbed Families.

    ERIC Educational Resources Information Center

    Zuk, Gerald H., Ed.; Boszormenyi-Nagy, Ivan, Ed.

    Presented at a conference at which authors represented major theoretical positions in the field, most of the papers use family therapy as an important source of observations or ideas, or as a means to pinpoint methodological problems. Papers are grouped in sections as follows: four which introduce the reader to the field of specialization, provide…

  18. Family Centers

    DTIC Science & Technology

    1992-12-30

    quality service delivery to meet the needs of the DoD personnel and their families, in accordance with DoD Directive 1342.17 (reference (a)). 4...facility, and program standards. f. Develop and forward to ASD(FM&P), for review and approval, a comprehensive evaluation system to measure the...of future services and the continuation, expansion, or termination of others. (3) Service-wide measurement criteria for monitoring and evaluating the

  19. Familial Hypercholesterolemia

    PubMed Central

    Bouhairie, Victoria Enchia; Goldberg, Anne Carol

    2015-01-01

    Familial hypercholesterolemia is a common, inherited disorder of cholesterol metabolism that leads to early cardiovascular morbidity and mortality. It is underdiagnosed and undertreated. Statins, ezetimibe, bile acid sequestrants, niacin, lomitapide, mipomersen and LDL apheresis are treatments that can lower LDL cholesterol levels. Early treatment can lead to substantial reduction of cardiovascular events and death in patients with FH. It is important to increase awareness of this disorder in physicians and patients in order to reduce the burden of this disorder. PMID:25939291

  20. Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis.

    PubMed Central

    Wallace, M R; Dwulet, F E; Conneally, P M; Benson, M D

    1986-01-01

    Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant late-onset disorder characterized by the extracellular deposition of amyloid fibrils. In all cases studied these fibrils have been found to be composed of plasma prealbumin (transthyretin) containing a single amino acid substitution. Biochemical studies were conducted on amyloid from one patient and plasma prealbumin from his affected brother, both part of a large kindred from the Appalachian region of the United States. Sequence analysis of the amyloid subunit protein showed it to be prealbumin with about two-thirds of the molecules containing a substitution of alanine for threonine at position 60. Studies of the plasma prealbumin showed that the same substitution was present in 40-45% of the protein. Based on this substitution and the prealbumin cDNA sequence, a Pvu II restriction fragment length DNA polymorphism (RFLP) was predicted and demonstrated in DNA of both patients as well as other family members. This RFLP confirms the predicted DNA mutation responsible for the protein variant, and represents an accurate method for detection of this gene. Images PMID:3722385

  1. The Facilitative Effect of Transcranial Direct Current Stimulation on Visuospatial Working Memory in Patients with Diabetic Polyneuropathy: A Pre–post Sham-Controlled Study

    PubMed Central

    Wu, Yi-Jen; Tseng, Philip; Huang, Han-Wei; Hu, Jon-Fan; Juan, Chi-Hung; Hsu, Kuei-Sen; Lin, Chou-Ching

    2016-01-01

    Diabetes mellitus can lead to diabetic polyneuropathy (DPN) and cognitive deficits that manifest as peripheral and central neuropathy, respectively. In this study we investigated the relationship between visuospatial working memory (VSWM) capacity and DPN severity, and attempted to improve VSWM in DPN patients via the use of transcranial direct current stimulation (tDCS). Sixteen DPN patients and 16 age- and education-matched healthy control subjects received Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-IV) and Montreal Cognitive Assessment (MOCA) for baseline cognitive assessment. A forward- and backward-recall computerized Corsi block tapping task (CBT), both with and without a concurrent motor interference task was used to measure VSWM capacity. Each DPN patient underwent a pre-treatment CBT, followed by tDCS or sham treatment, then a post-treatment CBT on two separate days. We found that although patients with severe DPN (Dyck’s grade 2a or 2b) showed comparable general intelligence scores on WAIS-IV as their age- and education-matched healthy counterparts, they nonetheless showed mild cognitive impairment (MCI) on MOCA and working memory deficit on digit-span test of WAIS-IV. Furthermore, patients’ peripheral nerve conduction velocity (NCV) was positively correlated with their VSWM span in the most difficult CBT condition that involved backward-recall with motor interference such that patients with worse NCV also had lower VSWM span. Most importantly, anodal tDCS over the right DLPFC was able to improve low-performing patients’ VSWM span to be on par with the high-performers, thereby eliminating the correlation between NCV and VSWM. In summary, these findings suggest that (1) MCI and severe peripheral neuropathy can coexist with unequal severity in diabetic patients, (2) the positive correlation of VSWM and NCV suggests a link between peripheral and central neuropathies, and (3) anodal tDCS over the right DLPFC can improve DPN patients’ VSWM

  2. The Facilitative Effect of Transcranial Direct Current Stimulation on Visuospatial Working Memory in Patients with Diabetic Polyneuropathy: A Pre-post Sham-Controlled Study.

    PubMed

    Wu, Yi-Jen; Tseng, Philip; Huang, Han-Wei; Hu, Jon-Fan; Juan, Chi-Hung; Hsu, Kuei-Sen; Lin, Chou-Ching

    2016-01-01

    Diabetes mellitus can lead to diabetic polyneuropathy (DPN) and cognitive deficits that manifest as peripheral and central neuropathy, respectively. In this study we investigated the relationship between visuospatial working memory (VSWM) capacity and DPN severity, and attempted to improve VSWM in DPN patients via the use of transcranial direct current stimulation (tDCS). Sixteen DPN patients and 16 age- and education-matched healthy control subjects received Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-IV) and Montreal Cognitive Assessment (MOCA) for baseline cognitive assessment. A forward- and backward-recall computerized Corsi block tapping task (CBT), both with and without a concurrent motor interference task was used to measure VSWM capacity. Each DPN patient underwent a pre-treatment CBT, followed by tDCS or sham treatment, then a post-treatment CBT on two separate days. We found that although patients with severe DPN (Dyck's grade 2a or 2b) showed comparable general intelligence scores on WAIS-IV as their age- and education-matched healthy counterparts, they nonetheless showed mild cognitive impairment (MCI) on MOCA and working memory deficit on digit-span test of WAIS-IV. Furthermore, patients' peripheral nerve conduction velocity (NCV) was positively correlated with their VSWM span in the most difficult CBT condition that involved backward-recall with motor interference such that patients with worse NCV also had lower VSWM span. Most importantly, anodal tDCS over the right DLPFC was able to improve low-performing patients' VSWM span to be on par with the high-performers, thereby eliminating the correlation between NCV and VSWM. In summary, these findings suggest that (1) MCI and severe peripheral neuropathy can coexist with unequal severity in diabetic patients, (2) the positive correlation of VSWM and NCV suggests a link between peripheral and central neuropathies, and (3) anodal tDCS over the right DLPFC can improve DPN patients' VSWM

  3. Integrating Family Resilience and Family Stress Theory.

    ERIC Educational Resources Information Center

    Patterson, Joan M.

    2002-01-01

    The construct, family resilience, is defined differently by practitioners and researchers. This study tries to clarify the concept of family resilience. The foundation is family stress and coping theory, particularly the stress models that emphasize adaptation processes in families exposed to major adversities. (JDM)

  4. The Family Hero in Black Alcoholism Families.

    ERIC Educational Resources Information Center

    Brisbane, Francis L.

    1989-01-01

    Uses data from 20 case studies of Black adult female children of alcoholic parents to discuss Family Hero role often assumed by oldest or only female child in Black alcoholism families. Explains how female-dominated survival role of Family Hero in Black families is significantly more related to racial and cultural factors than numbers alone may…

  5. Positive Family Functioning.

    ERIC Educational Resources Information Center

    Sussman, Marvin B.

    The persistence of the nuclear family as the primary social unit in the United States and most all other societies, especially complex ones, is a fact. Values shape the definition of family, especially the "good family," and the "great debate" of this period on family failure, family corruption and the family's near demise originates in…

  6. A New Folding Kinetic Mechanism for Human Transthyretin and the Influence of the Amyloidogenic V30M Mutation

    PubMed Central

    Jesus, Catarina S. H.; Almeida, Zaida L.; Vaz, Daniela C.; Faria, Tiago Q.; Brito, Rui M. M.

    2016-01-01

    Protein aggregation into insoluble amyloid fibrils is the hallmark of several neurodegenerative diseases, chief among them Alzheimer’s and Parkinson’s. Although caused by different proteins, these pathologies share some basic molecular mechanisms with familial amyloidotic polyneuropathy (FAP), a rare hereditary neuropathy caused by amyloid formation and deposition by transthyretin (TTR) in the peripheral and autonomic nervous systems. Among the amyloidogenic TTR mutations known, V30M-TTR is the most common in FAP. TTR amyloidogenesis (ATTR) is triggered by tetramer dissociation, followed by partial unfolding and aggregation of the low conformational stability monomers formed. Thus, tetramer dissociation kinetics, monomer conformational stability and competition between refolding and aggregation pathways do play a critical role in ATTR. Here, we propose a new model to analyze the refolding kinetics of WT-TTR and V30M-TTR, showing that at pH and protein concentrations close to physiological, a two-step mechanism with a unimolecular first step followed by a second-order second step adjusts well to the experimental data. Interestingly, although sharing the same kinetic mechanism, V30M-TTR refolds at a much slower rate than WT-TTR, a feature that may favor the formation of transient species leading to kinetic partition into amyloidogenic pathways and, thus, significantly increasing the probability of amyloid formation in vivo. PMID:27589730

  7. [Transthyretin: it's miracle function and pathogenesis].

    PubMed

    Ando, Yukio

    2009-03-01

    Transthyretin (TTR) was previously called prealbumin because the band it formed on agarose gel electrophoresis at pH 8.6 was at the prealbumin position. However, it has been well documented that TTR of rodents does not show a prealbumin position on electrophoresis. Now, its name describes its function, binding to retinol binding protein (RBP) and T4. The serum concentration of the protein is 20-40 mg/dl, and TTR forms a tetramer. The plasma half life of the protein is 1.9 days. TTR is synthesized by the liver, retina, pancreas, and choroid plexus. In cerebro-spinal fluid (CSF), it is the second most abundant protein, and is considered as an important protein in the pathogenesis of Alzheimer's disease, depression, and lead intoxication. In addition, TTR is a tryptophan-rich protein, it is used as one of the nutrition assessment proteins, it acts as an anti acute phase protein, and its plasma concentration decreases during inflammation and bacterial infection. Since TTR is a highly amyloidogenic protein because it contains a beta-sheet structure, it becomes a precursor protein in familial amyloidotic polyneuropathy(FAP). Moreover, TTR plays important roles in various CNS disorders, diabetes melitus, and lipid metabolism.

  8. [Diagnosis of small-fiber neuropathy using various autonomic function tests].

    PubMed

    Obayashi, Konen; Ando, Yukio

    2014-01-01

    It is well known that transthyretin-related familial amyloidotic polyneuropathy (TTR-FAP) and diabetic peripheral neuropathy are characterized by early selective involvement of small nerve fibers. However, early diagnosis of these diseases is not easy because prominent early diagnostic markers for small fiber neuropathies have not established. Thus, we adopted several methods to evaluate autonomic function accurately for detecting the onset of small-fiber neuropathy, such as laser-Doppler flowmetry, sweating tests using capsule type sweating ratemeter, morphological check of sweat gland, electrogastrography, density check of small-fiber and gastrointestinal interstitial cells of Cajal, R-R interval study, (123)I-MIBG myocardial scintigraphy, and head-up tilt test to check the overshoot phenomenon. These tests may indicate very early stage of small-fiber neuropathies in asymptomatic mutated TTR carriers or impaired glucose tolerance patients. Moreover, assessment of the pain thresholds by preferential stimulation of C and Aδ fibers are particularly useful tools for diagnosing the onset of small-fiber neuropathies in addition to the autonomic testing.

  9. Gene therapy approach to FAP: in vivo influence of T119M in TTR deposition in a transgenic V30M mouse model.

    PubMed

    Batista, A R; Gianni, D; Ventosa, M; Coelho, A V; Almeida, M R; Sena-Esteves, M; Saraiva, M J

    2014-12-01

    Familial amyloidotic polyneuropathy (FAP) is a neurodegenerative disorder characterized by extracellular deposition of amyloid fibrils composed by mutated transthyretin (TTR) mainly in the peripheral nervous system. At present, liver transplantation is still the standard treatment to halt the progression of clinical symptoms in FAP, but new therapeutic strategies are emerging, including the use of TTR stabilizers. Here we propose to establish a new gene therapy approach using adeno-associated virus (AAV) vectors to deliver the trans-suppressor TTR T119M variant to the liver of transgenic TTR V30M mice at different ages. This TTR variant is known for its ability to stabilize the tetrameric protein. Analysis of the gastrointestinal tract of AAV-treated animals revealed a significant reduction in deposition of TTR non-fibrillar aggregates in as much as 34% in stomach and 30% in colon, as well as decreased levels of biomarkers associated with TTR deposition, namely the endoplasmic reticulum stress marker BiP and the extracellular matrix protein MMP-9. Moreover, we showed with different studies that our approach leads to an increase in tetrameric and more stable forms of TTR, in favor of destabilized monomers. Altogether our data suggest the possibility to use this gene therapy approach in a prophylactic manner to prevent FAP pathology.

  10. Tetrabromobisphenol A Is an Efficient Stabilizer of the Transthyretin Tetramer

    PubMed Central

    Iakovleva, Irina; Begum, Afshan; Brännström, Kristoffer; Wijsekera, Alexandra; Nilsson, Lina; Zhang, Jin; Andersson, Patrik L.; Sauer-Eriksson, A. Elisabeth; Olofsson, Anders

    2016-01-01

    Amyloid formation of the human plasma protein transthyretin (TTR) is associated with several human disorders, including familial amyloidotic polyneuropathy (FAP) and senile systemic amyloidosis. Dissociation of TTR’s native tetrameric assembly is the rate-limiting step in the conversion into amyloid, and this feature presents an avenue for intervention because binding of an appropriate ligand to the thyroxin hormone binding sites of TTR stabilizes the native tetrameric assembly and impairs conversion into amyloid. The desired features for an effective TTR stabilizer include high affinity for TTR, high selectivity in the presence of other proteins, no adverse side effects at the effective concentrations, and a long half-life in the body. In this study we show that the commonly used flame retardant tetrabromobisphenol A (TBBPA) efficiently stabilizes the tetrameric structure of TTR. The X-ray crystal structure shows TBBPA binding in the thyroxine binding pocket with bromines occupying two of the three halogen binding sites. Interestingly, TBBPA binds TTR with an extremely high selectivity in human plasma, and the effect is equal to the recently approved drug tafamidis and better than diflunisal, both of which have shown therapeutic effects against FAP. TBBPA consequently present an interesting scaffold for drug design. Its absorption, metabolism, and potential side-effects are discussed. PMID:27093678

  11. Family Orientation in Family Medicine Training

    PubMed Central

    Talbot, Yves R.; Tannenbaum, David

    1990-01-01

    Teaching about the family has become an important part of the family medicine curriculum. The family orientation index, a 39-item questionnaire, was designed to evaluate the family orientation of services and care provided as well as the teaching and research. The questionnaire was distributed to 55 program directors at 16 Canadian universities. The response rate was 84%. The results indicate that the family orientation of services is less than optimal. PMID:21233938

  12. Family ties: constructing family time in low-income families.

    PubMed

    Tubbs, Carolyn Y; Roy, Kevin M; Burton, Linda M

    2005-03-01

    "Family time" is reflected in the process of building and fortifying family relationships. Whereas such time, free of obligatory work, school, and family maintenance activities, is purchased by many families using discretionary income, we explore how low-income mothers make time for and give meaning to focused engagement and relationship development with their children within time constraints idiosyncratic to being poor and relying on welfare. Longitudinal ethnographic data from 61 low-income African American, European American, and Latina American mothers were analyzed to understand how mothers construct family time during daily activities such as talking, play, and meals. We also identify unique cultural factors that shape family time for low-income families, such as changing temporal orientations, centrality of television time, and emotional burdens due to poverty. Implications for family therapy are also discussed.

  13. Familial hyperargininaemia.

    PubMed Central

    Terheggen, H G; Lowenthal, A; Lavinha, F; Colombo, J P

    1975-01-01

    A third case of hyperargininaemia occurring in one family was studied from birth. In cord blood serum arginine concentration was only slightly raised, but arginase activity in red blood cell haemolysates was very low. In the urine on day 2 a typical cystinuria pattern was present. Arginine concentration in serum increased to 158 mumol/100 ml on the 41st day of life. Later determinations of the arginase activity in peripheral blood showed values below the sensitivity of the method. Blood ammonia was consistently high, and cystinuria was present. The enzymatic defect was further displayed by intravenous loading tests with arginine. Serum urea values were predominantly normal or near the lower limit of normal, suggesting the presence of other metabolic pathways of urea synthesis. In urine there was no excretion of guanidinosuccinic acid, while the excretion of other monosubstituted guanidine derivatives was increased, pointing to a connexion with hyperargininaemia. Owing to parental attitude, a low protein diet (1-5 g/kg) was introduced only late. The infant developed severe mental retardation, athetosis, and spasticity. PMID:1124944

  14. Family and family therapy in Russia.

    PubMed

    Bebtschuk, Marina; Smirnova, Daria; Khayretdinov, Oleg

    2012-04-01

    This article represents the information about family and family therapy in the context of culture, traditions and contemporary changes of social situations in Russia. The legislation of family rights are mentioned within items about marriage and family in the Constitution, Civil Code and Family Code of the Russian Federation which has changed during recent years. The definition of family and description of family structure are given through the prism of the current demographic situation, dynamics of statistics of marriage and divorce rates, mental disorders, disabilities and such phenomena as social abandonment. The actual curriculum, teaching of family therapy and its disadvantages, system of continuous education, supervision and initiatives of the Institute of Integrative Family Therapy in improvement of preparing of specialists who can provide qualified psychosocial assistance for the family according to the actual needs of society are noted. The directions of state and private practice of family counselling and therapy both for psychiatric patients and medical patients, for adults and children in a family systemic approach are highlighted with an indication of the spectrum of techniques and methods used by Russian professionals. The main obstacles and perspectives of development of family therapy in Russia are summarized.

  15. Recovery and outcomes after the acute respiratory distress syndrome (ARDS) in patients and their family caregivers.

    PubMed

    Herridge, Margaret S; Moss, Marc; Hough, Catherine L; Hopkins, Ramona O; Rice, Todd W; Bienvenu, O Joseph; Azoulay, Elie

    2016-05-01

    Outcomes after acute respiratory distress syndrome (ARDS) are similar to those of other survivors of critical illness and largely affect the nerve, muscle, and central nervous system but also include a constellation of varied physical devastations ranging from contractures and frozen joints to tooth loss and cosmesis. Compromised quality of life is related to a spectrum of impairment of physical, social, emotional, and neurocognitive function and to a much lesser extent discrete pulmonary disability. Intensive care unit-acquired weakness (ICUAW) is ubiquitous and includes contributions from both critical illness polyneuropathy and myopathy, and recovery from these lesions may be incomplete at 5 years after ICU discharge. Cognitive impairment in ARDS survivors ranges from 70 to 100 % at hospital discharge, 46 to 80 % at 1 year, and 20 % at 5 years, and mood disorders including depression and post-traumatic stress disorder (PTSD) are also sustained and prevalent. Robust multidisciplinary and longitudinal interventions that improve these outcomes are still uncertain and data in our literature are conflicting. Studies are needed in family members of ARDS survivors to better understand long-term outcomes of the post-ICU family syndrome and to evaluate how it affects patient recovery.

  16. Family Therapy and Ideology.

    ERIC Educational Resources Information Center

    Bernal, Guillermo; Ysern, Eduardo

    1986-01-01

    Argues that the family and the enterprise of family therapy are social systems and under the influence of the ideology particular to a given society. The strategic family therapy treatment of a family with a drug-addicted member serves as an example to clarify the ideological themes of contemporary family therapy. (Author/BL)

  17. Effects of family connection and family individuation.

    PubMed

    Bell, Linda G; Bell, David C

    2009-09-01

    This prospective longitudinal study explores the differential effects of family connection and family individuation measured during adolescence on later midlife well-being. Home interviews were held in the 1970s with 99 families of 245 adolescents. Connection and individuation in the family system were measured by self-report, a projective exercise, and coding of taped family interactions. Twenty-five years later, telephone interviews were conducted with 54 men and 120 women (representing 82 families) who had been adolescents in the 1970s interviews. Family connection (measured during adolescence) was associated with self-acceptance and positive relationships at midlife partially mediated by marriage. Family individuation (measured during adolescence) was associated with personal autonomy at midlife.

  18. Ultrasonographic nerve enlargement of the median and ulnar nerves and the cervical nerve roots in patients with demyelinating Charcot-Marie-Tooth disease: distinction from patients with chronic inflammatory demyelinating polyneuropathy.

    PubMed

    Sugimoto, Takamichi; Ochi, Kazuhide; Hosomi, Naohisa; Takahashi, Tetsuya; Ueno, Hiroki; Nakamura, Takeshi; Nagano, Yoshito; Maruyama, Hirofumi; Kohriyama, Tatsuo; Matsumoto, Masayasu

    2013-10-01

    Demyelinating Charcot-Marie-Tooth disease (CMT) and chronic inflammatory demyelinating polyneuropathy (CIDP) are both demyelinating polyneuropathies. The differences in nerve enlargement degree and pattern at multiple evaluation sites/levels are not well known. We investigated the differences in nerve enlargement degree and the distribution pattern of nerve enlargement in patients with demyelinating CMT and CIDP, and verified the appropriate combination of sites/levels to differentiate between these diseases. Ten patients (aged 23-84 years, three females) with demyelinating CMT and 16 patients (aged 30-85 years, five females) with CIDP were evaluated in this study. The nerve sizes were measured at 24 predetermined sites/levels from the median and ulnar nerves and the cervical nerve roots (CNR) using ultrasonography. The evaluation sites/levels were classified into three regions: distal, intermediate and cervical. The number of sites/levels that exhibited nerve enlargement (enlargement site number, ESN) in each region was determined from the 24 sites/levels and from the selected eight screening sites/levels, respectively. The cross-sectional areas of the peripheral nerves were markedly larger at all evaluation sites in patients with demyelinating CMT than in patients with CIDP (p < 0.01). However, the nerve sizes of CNR were not significantly different between patients with either disease. When we evaluated ESN of four selected sites for screening from the intermediate region, the sensitivity and specificity to distinguish between demyelinating CMT and CIDP were 0.90 and 0.94, respectively, with the cut-off value set at four. Nerve ultrasonography is useful to detect nerve enlargement and can clarify morphological differences in nerves between patients with demyelinating CMT and CIDP.

  19. Revamping Family Preservation Services for Native Families.

    ERIC Educational Resources Information Center

    Coleman, Heather; Unrau, Yvonne A.; Manyfingers, Brenda

    2001-01-01

    Examines the philosophy and program structures of family preservation services (FPS) in the context of providing services to Native American families with child welfare issues. Explores Native cultural concepts of family, child rearing, time, and spirituality. Outlines cross-cultural training needs for FPS workers related to cultural awareness,…

  20. Family Capital: Implications for Interventions with Families

    ERIC Educational Resources Information Center

    Belcher, John R.; Peckuonis, Edward V.; Deforge, Bruce R.

    2011-01-01

    Social capital has been extensively discussed in the literature as building blocks that individuals and communities utilize to leverage system resources. Similarly, some families also create capital, which can enable members of the family, such as children, to successfully negotiate the outside world. Families in poverty confront serious…

  1. Choosing a Family Doctor

    MedlinePlus

    ... of the whole family. Family doctors create caring relationships with patients and their families. They really get ... questions.Remember, it takes time to build a relationship with your doctor. Last Updated: May 2014 This ...

  2. Family Activities for Fitness

    ERIC Educational Resources Information Center

    Grosse, Susan J.

    2009-01-01

    This article discusses how families can increase family togetherness and improve physical fitness. The author provides easy ways to implement family friendly activities for improving and maintaining physical health. These activities include: walking, backyard games, and fitness challenges.

  3. Familial Pulmonary Fibrosis

    MedlinePlus

    ... Training Home Conditions Familial Pulmonary Fibrosis Familial Pulmonary Fibrosis Make an Appointment Find a Doctor Ask a ... members within the same family have Idiopathic Pulmonary Fibrosis (IPF) or any other form of Idiopathic Interstitial ...

  4. National Military Family Association

    MedlinePlus

    ... have good news and bad news for military families. MORE Military Families Brace for What’s Next In Syria President Trump ordered an airstrike in Syria leaving military families wondering what's next. More April is the Month ...

  5. Normal Functioning Family

    MedlinePlus

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Español Text Size Email Print Share Normal Functioning Family Page Content Article Body Is there any way ...

  6. Familial mesothelioma: a report of two families

    SciTech Connect

    Hammar, S.P.; Bockus, D.; Remington, F.; Freidman, S.; LaZerte, G.

    1989-02-01

    Five reports of familial mesothelioma in which mesotheliomas occurred in two or more family members have been recorded in the medical literature. In this report, we describe two examples of familial mesothelioma. In one family, three brothers who worked in the asbestos insulation industry developed mesothelioma. In the second family, the father, who was occupationally exposed to asbestos, died from a tubulopapillary peritoneal mesothelioma 11 years before his son died from an identical histologic type of peritoneal mesothelioma. Our report, as with those previously recorded, suggests that genetic factors may be important in the genesis of some mesotheliomas.

  7. Familial Mediterranean Fever

    MedlinePlus

    Diseases and Conditions Familial Mediterranean fever By Mayo Clinic Staff Familial Mediterranean fever is an inflammatory disorder that causes recurrent fevers and painful inflammation of your abdomen, ...

  8. Strengthening Family Practices for Latino Families

    PubMed Central

    Chartier, Karen G.; Negroni, Lirio K.; Hesselbrock, Michie N.

    2010-01-01

    The study examined the effectiveness of a culturally-adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9–12 year old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted with each family. Parental stress, parent-child dysfunctional relations, and child behavior problems were reduced in the families receiving the intervention; family hardiness and family attachment were improved. Findings contribute to the validation of the SFP with Latinos, and can be used to inform social work practice with Puerto Rican families. PMID:20871785

  9. Long-term treatment of anemia with recombinant human erythropoietin in familial amyloidosis TTR V30M.

    PubMed

    Beirão, Idalina; Lobato, Luísa; Moreira, Luciana; Mp Costa, Paulo; Fonseca, Isabel; Cabrita, António; Porto, Graça

    2008-09-01

    Familial amyloidosis or familial amyloid polyneuropathy (FAP) TTR V30M is a hereditary disease presented, in most cases, as a sensorimotor and autonomic neuropathy. Normocytic and normochromic anaemia was found in 24.8% of symptomatic FAP patients associated to lower serum erythropoietin (Epo) levels. Erythropoietin has been reported as efficient in anaemia correction in this disease. To evaluate the tolerance and efficacy of this treatment, a retrospective longitudinal study with 24 patients was undertaken. Patients were followed for at least 6 months. Haemoglobin, hematocrit, iron status, serum creatinine and urea and r-HuEPO doses were monitored, at 0, 3 months, 6 months and at the end of the follow-up. Long-term use of r-HuEPO proved to be efficient in the treatment of anaemia in familial amyloidosis TTR V30M and, despite the disease progression, no resistance cases to this treatment were observed. Positive side effects, like improvement on orthostatic hypotension symptoms and well-being sensation, contributing to confirm erythropoietin as a drug of choice to treat anaemia in amyloidosis TTR V30M.

  10. Lymphoma-associated dysimmune polyneuropathies.

    PubMed

    Stübgen, Joerg-Patrick

    2015-08-15

    Lymphoma consists of a variety of malignancies of lymphocyte origin. A spectrum of clinical peripheral neuropathy syndromes with different disease mechanisms occurs in about 5% of lymphoma patients. There exists a complex inter-relationship between lymphoproliferative malignancies and autoimmunity. An imbalance in the regulation of the immune system presumably underlies various immune-mediated neuropathies in patients with lymphoma. This article reviews lymphoma and more-or-less well-defined dysimmune neuropathy subgroups that are caused by humoral and/or cell-mediated immune disease mechanisms directed against known or undetermined peripheral nerve antigens.

  11. Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)

    MedlinePlus

    ... weakness of the arms and legs, loss of deep tendon reflexes (areflexia), fatigue, and abnormal sensations. CIDP ... weakness of the arms and legs, loss of deep tendon reflexes (areflexia), fatigue, and abnormal sensations. CIDP ...

  12. The Changing Family Structure.

    ERIC Educational Resources Information Center

    Bernard van Leer Foundation Newsletter, 1993

    1993-01-01

    This newsletter issue contains feature articles and short reports on how and why family structures are undergoing substantial change in many parts of the world. These articles include: (1) "The Changing Family Structure," a review of how families are changing and why; (2) "Peru: Families in the Andes"; (3) "Thailand:…

  13. The Family in Treatment.

    ERIC Educational Resources Information Center

    Dunlop, Jean D.

    This paper describes Laurelhurst Manor's family treatment program to help families affected by chemical dependency, a 7-month program which treats family members from the perspective of developmental stages and family roles. The center, located in Portland, Oregon, is a 40-bed, free-standing facility having a 20-bed adolescent unit and a 20-bed…

  14. Black Families. Third Edition.

    ERIC Educational Resources Information Center

    McAdoo, Harriette Pipes, Ed.

    The chapters of this collection explore the experiences of black families in the United States and Africa, today and in the past. They are: (1) "African American Families: A Historical Note" (John Hope Franklin); (2) "African American Families and Family Values" (Niara Sudarkasa); (3) "Old-Time Religion: Benches Can't Say…

  15. Family Participation in Policymaking.

    ERIC Educational Resources Information Center

    Caplan, Elizabeth, Ed.; Blankenship, Kelly, Ed.; McManus, Marilyn, Ed.

    1998-01-01

    This bulletin focuses on family participation in mental health policymaking and highlights state efforts to increase family involvement. Articles include: (1) "Promoting Family Member Involvement in Children's Mental Health Policy Making Bodies," which describes how different states are promoting family member involvement in various statutory and…

  16. Families in Transition .

    ERIC Educational Resources Information Center

    Bundy, Michael L., Ed.; Gumaer, James, Ed.

    1984-01-01

    Focuses on disrupted families and the role of the school counselor in helping children adjust. Describes characteristics of healthy families, and discusses the transition to the blended family, effects of divorce groups on children's classroom behavior, counseling children in stepfamilies, single-parent families, and parenting strengths of single…

  17. Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases

    PubMed Central

    2013-01-01

    Background Amyloidoses are a heterogeneous group of progressive diseases caused by tissue deposition of misfolded proteins. According to the International Classification of Diseases, hereditary amyloidosis is divided into neuropathic and non-neuropathic forms. In Sweden, neuropathic heredofamilial amyloidosis has been identified as familial amyloidotic polyneuropathy (FAP), a fatal disease that is treated by liver transplantation. The non-neuropathic form includes familial autoinflammatory diseases. As no incidence data on these hereditary diseases are available and as even diagnostic data on non-neuropathic forms are lacking we determined the incidence of these diseases and characterized non-neuropathic conditions. Methods Patients were identified using data from the Swedish Hospital Discharge Register and from the Outpatient Register for 2001 through 2008. All patients discharged with hereditary amyloidosis diagnoses were included and standardized incidence rates were calculated. Results Non-neuropathic disease was diagnosed in 210 patients, with an incidence of 2.83 per million. FAP was diagnosed in 221 patients, with an incidence of 2.02 per million. Two northern provinces that are home to 5% of the Swedish population accounted for 77% of FAP cases; the incidence in one of them, West Bothnia, was 100 times that in the rest of Sweden. Approximately 98% of non-neuropathic disease patients were immigrants, most of whom were from the Eastern Mediterranean area. Young Syrian descendants had the highest incidence rate, which was over 500-fold higher than that in individuals with Swedish parents. Even the early onset of these conditions identified them as familial autoinflammatory diseases. Conclusions FAP cases were highly concentrated in the two northernmost provinces. Non-neuropathic familial autoinflammatory diseases were of early-onset and immigrant origin most likely related to periodic fever syndromes. Paradoxically, FAP has remained endemic, in spite of

  18. Nontraditional family romance.

    PubMed

    Corbett, K

    2001-07-01

    Family stories lie at the heart of psychoanalytic developmental theory and psychoanalytic clinical technique, but whose family? Increasingly, lesbian and gay families, multiparent families, and single-parent families are relying on modern reproductive technologies to form families. The contemplation of these nontraditional families and the vicissitudes of contemporary reproduction lead to an unknowing of what families are, including the ways in which psychoanalysts configure the family within developmental theory. This article focuses on the stories that families tell in order to account for their formation--stories that include narratives about parental union, parental sexuality, and conception. The author addresses three constructs that inform family stories and that require rethinking in light of the category crises posed by and for the nontraditional family: (1) normative logic, (2) family reverie and the construction of a family romance, and (3) the primal scene. These constructs are examined in tandem with detailed clinical material taken from the psychotherapy of a seven-year-old boy and his two mothers.

  19. The Family Relationships Grid: Measuring Family Structure.

    ERIC Educational Resources Information Center

    Copeland, Anne P.; And Others

    This study examined the Family Relationships Grid (FRG), a new measure of family structure that evaluates alliances, identification, isolation, and the relative strength of sibling and marital relationships. Subjects were 52 female and 35 male adolescents who were recruited through a university course and who each had at least one sibling.…

  20. Putting the "family" back into family therapy.

    PubMed

    Breunlin, Douglas C; Jacobsen, Elizabeth

    2014-09-01

    In this article, we examine the field of family therapy by drawing a distinction between two forms of practice: Whole Family Therapy (WFT), defined as treating the whole family, and Relational Family Therapy (RFT), defined as working with a subsystem of the family or an individual while retaining a systemic lens. Our thesis is that the practice of WFT has been in decline for some time and steps must be taken to keep it from becoming a defunct practice. We consider the trajectory of WFT and RFT throughout the development of family therapy through reference to the people, the literature, training, and practice patterns associated with family therapy. We remind the reader of the many benefits of WFT and suggest that today WFT is likely to be practiced in conjunction with RFT and individual therapy. Since training of family therapists today is largely located in degree-granting programs, we identify constraints to including WFT in such programs. We conclude by offering suggestions that can enhance a program's ability to train students in WFT.

  1. Strengthening Family Practices for Latino Families

    ERIC Educational Resources Information Center

    Chartier, Karen G.; Negroni, Lirio K.; Hesselbrock, Michie N.

    2010-01-01

    This study examined the effectiveness of a culturally adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9- to 12-year-old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted…

  2. Family Therapy for the "Truncated" Nuclear Family.

    ERIC Educational Resources Information Center

    Zuk, Gerald H.

    1980-01-01

    The truncated nuclear family consists of a two-generation group in which conflict has produced a polarization of values. The single-parent family is at special risk. Go-between process enables the therapist to depolarize sharply conflicted values and reduce pathogenic relating. (Author)

  3. Creating a Family Health History

    MedlinePlus

    ... please turn Javascript on. Creating a Family Health History Why Create a Family Health History? Click for more information A Family Tree for ... Click for more information What a Family Health History May Reveal You can use a family health ...

  4. Invest in Family*

    PubMed Central

    Shah, Nilesh; De Sousa, Avinash

    2015-01-01

    The family is an integral part of one's life. It is very essential that every individual employed or unemployed invests time therein. The family is a source of support and growth for an individual, and the lack of family support or loneliness may be a causative factor in the genesis of psychiatric disorders, especially depression. In India, family plays a paramount role when it comes to mental health of the individual. Tips on how one should invest time in one's family along with the role of a family in one's personal and social structure are discussed. PMID:25838732

  5. Liver transplantation and anemia in familial amyloidosis ATTR V30M.

    PubMed

    Beirão, Idalina; Lobato, Luísa; Costa, Paulo M P; Fonseca, Isabel; Silva, Manuela; Bravo, Fernanda; Cabrita, António; Porto, Graça

    2007-03-01

    Familial amyloid polyneuropathy type I (FAP-I) is caused by a mutant transthyretin (TTR V30M) produced by liver, and orthotopic liver transplantation (OLT) is a widely accepted treatment for stopping the major production of TTR V30M. Anemia affects 24.8% of symptomatic FAP-I patients with low erythropoietin (Epo) levels, suggesting a blockage of Epo-producing cells by local or circulating factors. To evaluate the putative toxicity effect of the mutant protein on Epo-producing cells and consequent Epo production, clinical and laboratory parameters of 20 FAP patients were collected before and after liver transplantation, analyzed and compared. Following OLT, the prevalence of anemia increased, with a significant decrease in transferrin saturation, but without significant change in ferritin. Serum Epo levels remained low after OLT and the observed to expected (O/E) Epo level ratio decreased even further after OLT (O/E < 0.8 rose to 70%). Despite the decrease in creatinine clearance (95.1 to 66.9 ml/min, p < 0.001), a similar median O/E Epo level was observed, independently of the presence of renal failure, excluding an important impact of renal failure on Epo production. The increase of anemia after OLT and the maintenance of a defective endogenous Epo production after liver transplantation excluded an inhibitory effect of the circulating TTR V30M on the Epo-producing cells.

  6. Sleep Pattern in Charcot-Marie-Tooth Disease Type 2: Report of Family Case Series

    PubMed Central

    Souza, Cynthia C.; Hirotsu, Camila; Neves, Eduardo L.A.; Santos, Lidiane C.L.; Costa, Iandra M.P.F.; Garcez, Catarina A.; Nunes, Paula S.; Araujo, Adriano A.S.

    2015-01-01

    Objectives: Charcot-Marie-Tooth (CMT) disease is the most prevalent hereditary motor and sensory polyneuropathy, and a condition in which sleep has rarely been studied, particularly in relation to the type 2 (CMT2). Thus, we aimed to characterize the sleep patterns of a family affected by CMT2 disease. Methods: Sixteen volunteers with CMT2 from the same multigenerational family agreed to participate in the study (refusal rate = 31%). All participants answered sleep questionnaires and came to the sleep laboratory to perform a diagnostic polysomnography (PSG). Clinical manifestation and severity of the disease were also evaluated. Results: 56% of the sample were male and 44% female, with a mean age of 32 ± 17 years, of normal weight (body mass index 21 ± 3 kg/m2); 64% presented moderate to severe CMT2. Regarding subjective sleep, 31% had excessive daytime sleepiness and 75% reported poor sleep quality. The PSG results revealed that CMT2 patients had an increase in stage N3 and a reduction in REM sleep, in addition to a high arousal index. Although 81% of the sample were snorers, only 13% had an apnea-hypopnea index (AHI) > 5. However, a positive correlation was found between the severity of disease and the AHI. Conclusions: Taken together, these data show that CMT2 disease is characterized by important changes in sleep architecture, probably due to sleep fragmentation. Although these alterations may worsen with disease severity, it seems that they are not related to sleep breathing or movement disorders. Citation: Souza CC, Hirotsu C, Neves EL, Santos LC, Costa IM, Garcez CA, Nunes PS, Araujo AA. Sleep pattern in charcot-marie-tooth disease type 2: report of family case series. J Clin Sleep Med 2015;11(3):205–211. PMID:25515278

  7. Assessing Postpartum Family Functioning

    PubMed Central

    Midmer, Deana; Talbot, Yves

    1988-01-01

    The birth of a child requires adaptation and reorganization within the family system in order to accommodate the new family member and to allow the family to continue in its psychosocial development. Knowledge of the normative and transitional changes required at this stage of family life will enhance family practitioners' understanding of some of the common concerns and complaints related to them by various family members during the postpartum period. The Family FIRO model represents a helpful conceptual framework to increase the family physician's understanding of the issues of inclusion, control, and intimacy that are highlighted during the transition to parenthood. The authors briefly present this model and discuss its application to postpartum adjustment and its implications for health-care professionals. PMID:21253238

  8. Unique Family Living Situations

    MedlinePlus

    ... if the family home changes for reasons of divorce, death, or economics? Factors, such as shifting between ... blending families when a parent remarries after a divorce or death of a spouse, or moving in ...

  9. Government and the Family

    ERIC Educational Resources Information Center

    Mondale, Walter F.

    1975-01-01

    In order to deal successfully with the changes and pressures placed upon families, article considered the extent government policies are helping or hurting families, and what kind of support services are available. (Author/RK)

  10. Family Caregiver Alliance

    MedlinePlus

    ... on your schedule. Look for our launch soon! FAMILY CARE NAVIGATOR ─ Click on Your State AL AK ... Group) Smart Patients Caregivers Community In partnership with Family Caregiver Alliance Learn more Caregiver Research Caregivers exhibit ...

  11. Family Violence: An Overview.

    ERIC Educational Resources Information Center

    National Center on Child Abuse and Neglect (DHHS/OHDS), Washington, DC.

    Family violence is a widespread problem; research has shown multiple factors are associated with family violence. Types of family violence include spouse abuse; elder abuse and neglect; child abuse and neglect; parent abuse; and sibling abuse. There are three types of spouse abuse: physical abuse, sexual violence, and psychological/emotional…

  12. Fatherhood and Family Support.

    ERIC Educational Resources Information Center

    Goetz, Kathy, Ed.

    1996-01-01

    On the assumption that fathers have been relatively absent from family support programs, this publication of the Family Resource Coalition addresses the role of fathers in family support programs, examines the impact of fathers on their children, and describes programs involving fathers successfully. Articles include: (1) "What's Behind the…

  13. Changing Family Forms.

    ERIC Educational Resources Information Center

    Seibert, M. Therese; Willetts, Marion C.

    2000-01-01

    Explores the definition of family. Considers three facets of the contemporary family measured by U.S. Census statistics: (1) marriage and divorce trends; (2) declining fertility; and (3) the rise in single-headed families. Addresses the societal changes (economic, cultural, legal, and technological) that have influenced the changes in family…

  14. Launching Family Message Journals.

    ERIC Educational Resources Information Center

    Wollman-Bonilla, Julie

    This lesson introduces Family Message Journals, a tool for encouraging family involvement and supporting writing to reflect and learn. First and second graders are led into composing through demonstration, guided writing, and finally independent writing of messages that they will bring home for family to read and write a reply. During the three…

  15. The Family Leukemia Association

    ERIC Educational Resources Information Center

    Pollitt, Eleanor

    1976-01-01

    An association of families of children with leukemia, the Family Leukemia Association (FLA), was recently established in Toronto. This paper discusses (a) philosophy of the FLA; (b) formative years of this organization; (c) problems encountered by leukemic children and their families; and (d) the FLA's past and future educational and social…

  16. Families in Transition.

    ERIC Educational Resources Information Center

    Britton, Patti O., Ed.; McGee, Michael, Ed.

    1987-01-01

    This issue of "Emphasis" deals with families in transition, providing some model programs for the new family and some historical perspectives on how families have developed over time. Articles include: (1) "Nostalgia on the Right" (Nancy Theriot); (2) "Heart to Heart" (Nancy Harrington-MacLennan); (3) "The Media Get the Message" (Janet Alyn); (4)…

  17. Family Planning & Literacy.

    ERIC Educational Resources Information Center

    International Planned Parenthood Federation, London (England).

    This publication is an International Planned Parenthood Federation (IPPF) annotated bibliography of books and articles concerned with family planning and literacy. The subject is divided into four major listings: (1) Literacy; (2) Education; (3) Literacy and Family Planning; and (4) Functional Literacy/Family Planning Projects and Programs.…

  18. Books in the Family.

    ERIC Educational Resources Information Center

    Swinger, Alice K.

    1989-01-01

    Opportunities for parents to encourage reading in the family are noted and ways to enhance the reading experience are discussed, including writing letters to book characters, singing combined with reading aloud, supplementing school subjects with enjoyable reading, sharing books at family gatherings, and using family experiences for book…

  19. Family Customs and Traditions.

    ERIC Educational Resources Information Center

    MacGregor, Cynthia

    Recognizing the importance of maintaining open communication with immediate and extended family members, this book provides a compilation of ideas for family traditions and customs that are grounded in compassion and human kindness. The traditions were gathered from families in the United States and Canada who responded to advertisements in…

  20. Familial lipoprotein lipase deficiency

    MedlinePlus

    ... for anyone with a family history of this disease. Prevention There is no known prevention for this rare, inherited disorder. Awareness of risks may allow early detection. Following a very low-fat diet can improve the ... Type I hyperlipoproteinemia; Familial chylomicronemia; Familial ...

  1. Year of the Family.

    ERIC Educational Resources Information Center

    California Agriculture, 1994

    1994-01-01

    This special issue focuses on problems and challenges confronting the California family and on research and extension efforts to provide at least partial answers. Research briefs by staff include "Challenges Confront the California Family" (state trends in poverty, divorce, single-parent families, child abuse, delinquency, teen births,…

  2. Individual and Family Development.

    ERIC Educational Resources Information Center

    Carlson, Jean; Simpson, Elizabeth

    This curriculum guide, in working paper form, for a semester-long three-credit course in individual and family development is one of nine technical core courses in an associate degree consumer/family manager program. The course studies individual and family development through the life cycle. Emphasis is on the relationship of basic needs to the…

  3. Treatment of violent families.

    PubMed Central

    Bell, C. C.; Chance-Hill, G.

    1991-01-01

    Family violence is responsible for a significant proportion of homicides, a major cause of premature deaths in African-Americans. This article reviews the prevalence of family violence and explores associated risk factors. Principles and tips of treatment, along with a cognitive framework to guide the actual therapy, are outlined. Finally, issues of preventing family violence are discussed. PMID:2038079

  4. Strengthening America's Families.

    ERIC Educational Resources Information Center

    Alvarado, Rose; Kumpfer, Karol

    2000-01-01

    Improving parenting practices and the family environment is the most effective, enduring strategy for combating juvenile delinquency. Describes the Office of Juvenile Justice and Delinquency Prevention's Strengthening America's Families Initiative. Highlights several family-focused prevention programs identified as exemplary, explaining how they…

  5. A story of family.

    PubMed

    Condon, Barbara Backer

    2010-07-01

    The author of this column gives a vivid description of Parse's humanbecoming family model as lived in community. The story of M'Barek (Mark), who was imprisoned for 18 years, draws readers to a new understanding of family and community. Through the process of storytelling, Parse's essences of family are discussed.

  6. Family practice in Turkey.

    PubMed

    Ozsahin, Akatli Kursad

    2014-03-01

    The national project 'Transformation in Health' was started in 2005 to provide expert primary care by family physicians, and decrease expenses in Turkey. The number of family physicians was far below the need, so public physicians were promoted to family physician status after a 10-day intensive course. The government declared some satisfactory results, but privately paid family physicians were not accepted into the system. Furthermore, the government stopped paying for their services from private settings. Some family physicians became unemployed as the major payer for all forms of medical care in Turkey denied their services. The process showed it's value in time. Nevertheless, family physicians should be the core of this transformation as family medicine is an academic and a scientific discipline and a primary care-oriented specialty with its own specific educational content, research and base of evidence, which cannot be achieved through standard medical education.

  7. Association study of C936T polymorphism of the VEGF gene and the C242T polymorphism of the p22phox gene with diabetes mellitus type 2 and distal diabetic polyneuropathy.

    PubMed

    Ghisleni, Melissa Mottin; Biolchi, Vanderlei; Jordon, Bruna Cristina; Rempel, Claudete; Genro, Júlia Pasqualini; Pozzobon, Adriane

    2015-09-01

    Even with long‑term glycemic control, diabetes mellitus type 2 (DM2) remains the predominant cause of diabetic neuropathy. Single nucleotide polymorphism (SNP) C936T of the vascular endothelial growth factor (VEGF) gene and the SNP C242T of the p22phox (CYBA) gene have been investigated in relation to DM2 and its complications. The aim of the present study was to investigate the association between these two SNPs and DM2, and also between the SNPs and the signs and symptoms of diabetic distal polyneuropathy. The DM2 group consisted of 98 individuals and the control group consisted of 104 individuals. The results demonstrated that there was no association between the different genotypes or alleles and increased risk of the disease (P>0.05). With SNP C242T, a significant association with body mass index between the CTxTT genotypes (P=0.043) was identified; and the greatest body mass indexes were among individuals with the TT genotype. An association between the degree of neuropathic symptoms and genotypic/allelic distribution of these polymorphisms was not observed. In conclusion, the investigated polymorphisms are not correlated with the risk of developing DM2.

  8. Multiplex families with epilepsy

    PubMed Central

    Afawi, Zaid; Oliver, Karen L.; Kivity, Sara; Mazarib, Aziz; Blatt, Ilan; Neufeld, Miriam Y.; Helbig, Katherine L.; Goldberg-Stern, Hadassa; Misk, Adel J.; Straussberg, Rachel; Walid, Simri; Mahajnah, Muhammad; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Kahana, Esther; Masalha, Rafik; Kramer, Uri; Ekstein, Dana; Shorer, Zamir; Wallace, Robyn H.; Mangelsdorf, Marie; MacPherson, James N.; Carvill, Gemma L.; Mefford, Heather C.; Jackson, Graeme D.; Scheffer, Ingrid E.; Bahlo, Melanie; Gecz, Jozef; Heron, Sarah E.; Corbett, Mark; Mulley, John C.; Dibbens, Leanne M.; Korczyn, Amos D.

    2016-01-01

    Objective: To analyze the clinical syndromes and inheritance patterns of multiplex families with epilepsy toward the ultimate aim of uncovering the underlying molecular genetic basis. Methods: Following the referral of families with 2 or more relatives with epilepsy, individuals were classified into epilepsy syndromes. Families were classified into syndromes where at least 2 family members had a specific diagnosis. Pedigrees were analyzed and molecular genetic studies were performed as appropriate. Results: A total of 211 families were ascertained over an 11-year period in Israel. A total of 169 were classified into broad familial epilepsy syndrome groups: 61 generalized, 22 focal, 24 febrile seizure syndromes, 33 special syndromes, and 29 mixed. A total of 42 families remained unclassified. Pathogenic variants were identified in 49/211 families (23%). The majority were found in established epilepsy genes (e.g., SCN1A, KCNQ2, CSTB), but in 11 families, this cohort contributed to the initial discovery (e.g., KCNT1, PCDH19, TBC1D24). We expand the phenotypic spectrum of established epilepsy genes by reporting a familial LAMC3 homozygous variant, where the predominant phenotype was epilepsy with myoclonic-atonic seizures, and a pathogenic SCN1A variant in a family where in 5 siblings the phenotype was broadly consistent with Dravet syndrome, a disorder that usually occurs sporadically. Conclusion: A total of 80% of families were successfully classified, with pathogenic variants identified in 23%. The successful characterization of familial electroclinical and inheritance patterns has highlighted the value of studying multiplex families and their contribution towards uncovering the genetic basis of the epilepsies. PMID:26802095

  9. Opening Doors: Understanding School and Family Influences on Family Involvement

    ERIC Educational Resources Information Center

    Carlisle, Erin; Stanley, Lindsey; Kemple, Kristen Mary

    2005-01-01

    Family involvement in schooling can benefit young children, teachers, and families. Family involvement in schools can be influenced by both school-related and family-related factors. School-related factors include teachers' attitudes toward families, and school and teacher expectations. Family-related factors include ethnicity, prior school…

  10. 24 CFR 982.515 - Family share: Family responsibility.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 24 Housing and Urban Development 4 2011-04-01 2011-04-01 false Family share: Family responsibility... Assistance Payment § 982.515 Family share: Family responsibility. (a) The family share is calculated by subtracting the amount of the housing assistance payment from the gross rent. (b) The family rent to owner...

  11. 24 CFR 982.515 - Family share: Family responsibility.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 24 Housing and Urban Development 4 2010-04-01 2010-04-01 false Family share: Family responsibility... Assistance Payment § 982.515 Family share: Family responsibility. (a) The family share is calculated by subtracting the amount of the housing assistance payment from the gross rent. (b) The family rent to owner...

  12. Extended family medicine training

    PubMed Central

    Slade, Steve; Ross, Shelley; Lawrence, Kathrine; Archibald, Douglas; Mackay, Maria Palacios; Oandasan, Ivy F.

    2016-01-01

    Abstract Objective To examine trends in family medicine training at a time when substantial pedagogic change is under way, focusing on factors that relate to extended family medicine training. Design Aggregate-level secondary data analysis based on the Canadian Post-MD Education Registry. Setting Canada. Participants All Canadian citizens and permanent residents who were registered in postgraduate family medicine training programs within Canadian faculties of medicine from 1995 to 2013. Main outcome measures Number and proportion of family medicine residents exiting 2-year and extended (third-year and above) family medicine training programs, as well as the types and numbers of extended training programs offered in 2015. Results The proportion of family medicine trainees pursuing extended training almost doubled during the study period, going from 10.9% in 1995 to 21.1% in 2013. Men and Canadian medical graduates were more likely to take extended family medicine training. Among the 5 most recent family medicine exit cohorts (from 2009 to 2013), 25.9% of men completed extended training programs compared with 18.3% of women, and 23.1% of Canadian medical graduates completed extended training compared with 13.6% of international medical graduates. Family medicine programs vary substantially with respect to the proportion of their trainees who undertake extended training, ranging from a low of 12.3% to a high of 35.1% among trainees exiting from 2011 to 2013. Conclusion New initiatives, such as the Triple C Competency-based Curriculum, CanMEDS–Family Medicine, and Certificates of Added Competence, have emerged as part of family medicine education and credentialing. In acknowledgment of the potential effect of these initiatives, it is important that future research examine how pedagogic change and, in particular, extended training shapes the care family physicians offer their patients. As part of that research it will be important to measure the breadth and uptake of

  13. Family dynamics and family psychotherapy of psychosomatic.

    PubMed

    Wirsching, M; Stierlin, H

    1979-01-01

    Family therapy of psychosomatic disorders is oftern difficult and comparable to the therapy of psychotic patients. Nonetheless, the results published today by authors such as Minuchin and Selvini and our own experiences are promising indeed. We have found that what seemed to be a deep-rooted psychic structure changed rapidly and enduringly if the relationship field changed. Amelioration of symptoms is in many cases easily attained if they are understood in their function within a relational system. Also, we regard the system or family approach as a chance for medical practice. The general practioner who usually deals with family systems has, in our view, an ideal position to bring about change if he uses his authority and trust properly. He has to obtain a positive, not pathology-oriented view and should use family and social resources in spite of engaging in an often fruitless and endless contact with the designated patient, which only serves to maintain and even to increase the homeostatic lock of the family system.

  14. Creating a family health history

    MedlinePlus

    Family health history; Create a family health history; Family medical history ... Many factors affect your health. These include your: Genes Diet and exercise habits Environment Family members tend to share certain behaviors, genetic traits, and habits. ...

  15. Advancing family psychology.

    PubMed

    Fiese, Barbara H

    2016-02-01

    To realize the broad and complex nature of the field of family psychology, I have slightly revised the mission statement of the Journal of Family Psychology (JFP) to capture contemporary scholarship in family psychology and to advance systems perspectives in this top-tier scientific journal. Over the next 6 years, I hope that authors will consider JFP as an outlet for their best work in the following areas: (1) JFP addresses societal challenges faced by families today; (2) JFP publishes important studies on what makes couple and family relationships work; (3) JFP is a leader in publishing reports that use cutting-edge sophisticated approaches to research design and data analysis; and (4) JFP imparts knowledge about effective therapy and prevention programs relevant to couples and families. The journal is also expanding its publication rate to eight issues per year.

  16. State of family planning.

    PubMed

    Schreiber, Courtney A; Traxler, Sarah

    2015-06-01

    Family planning and reproductive health services are uniquely impacted by policy and politics in the United States. Recent years have witnessed an unprecedented number of abortion restrictions, and research funding has decreased in related areas. Despite this, both the science and the implementation of improved family planning and abortion methods have progressed in the past decade. This article reviews the current state of family planning, as well as technologies and patient care opportunities for the future.

  17. The Growth of a Family

    PubMed Central

    Carroll, June C.; Biringer, Anne

    1991-01-01

    Caring for a family during pregnancy and birth is an ideal opportunity for family physicians to assess family functioning and help the family adjust to the birth of a new child. Stress and support systems can influence the course of pregnancy, including obstetric and perinatal outcomes. A family-centered approach can help patients during this critical stage of family development. PMID:21229107

  18. The Hoffmeister asteroid family

    NASA Astrophysics Data System (ADS)

    Carruba, V.; Novaković, B.; Aljbaae, S.

    2017-03-01

    The Hoffmeister family is a C-type group located in the central main belt. Dynamically, it is important because of its interaction with the ν1C nodal secular resonance with Ceres, which significantly increases the dispersion in inclination of family members at a lower semimajor axis. As an effect, the distribution of inclination values of the Hoffmeister family at a semimajor axis lower than its centre is significantly leptokurtic, and this can be used to set constraints on the terminal ejection velocity field of the family at the time it was produced. By performing an analysis of the time behaviour of the kurtosis of the vW component of the ejection velocity field [γ2(vW)], as obtained from Gauss' equations, for different fictitious Hoffmeister families with different values of the ejection velocity field, we were able to exclude that the Hoffmeister family should be older than 335 Myr. Constraints from the currently observed inclination distribution of the Hoffmeister family suggest that its terminal ejection velocity parameter VEJ should be lower than 25 m s-1. Results of a Yarko-YORP Monte Carlo method to family dating, combined with other constraints from inclinations and γ2(vW), indicate that the Hoffmeister family should be 220^{+60}_{-40} Myr old, with an ejection parameter VEJ = 20 ± 5 m s-1.

  19. [Nuclear families in Turkey].

    PubMed

    Unalan, T

    1988-01-01

    This study examines the household or family types in Turkey in 1983, especially nuclear families. Nuclear families constitute 61.6% of all households in Turkey, and the majority of them are in the West and the Central regions. The highest % of nuclear families was found in the Mediterranean regions, and the lowest in the Black Sea region. Among all nuclear families, 87% of them consist of husband, wife and children, whereas 13% of them have only husband and wife. Nuclear families without children are common in urban areas and in the West while nuclear families with children are mostly found in rural areas and in the East and the Black Sea regions. Nuclear families with 3 or more children constitute 32% of all nuclear households in the West. On the other hand, the corresponding % is 73 for the Eastern region. As a result, it is concluded that nuclear families have significant regional and residential differentiations and households with the same formation in a developed and a less developed region should have different social, economic, and cultural characteristics.

  20. Family Sense of Coherence and Family Adaptation.

    ERIC Educational Resources Information Center

    Antonovsky, Aaron; Sourani, Talma

    1988-01-01

    Administered family Sense of Coherence (SOC) scale to 60 married Israeli males who were disabled by injury or illness and to their spouses. Data provide strong support for hypothesis that strength of SOC would be associated with adaptation, and showed considerable degree of consensus among spouses. (Author/NB)

  1. The Rafita asteroid family

    NASA Astrophysics Data System (ADS)

    Aljbaae, S.; Carruba, V.; Masiero, J. R.; Domingos, R. C.; Huaman, M.

    2017-01-01

    The Rafita asteroid family is an S-type group located in the middle main belt, on the right side of the 3J:-1A mean-motion resonance. The proximity of this resonance to the family left side in semi-major axis caused many former family members to be lost. As a consequence, the family shape in the (a, 1/D) domain is quite asymmetrical, with a preponderance of objects on the right side of the distribution. The Rafita family is also characterized by a leptokurtic distribution in inclination, which allows the use of methods of family age estimation recently introduced for other leptokurtic families such as Astrid, Hansa, Gallia, and Barcelona. In this work we propose a new method based on the behavior of an asymmetry coefficient function of the distribution in the (a, 1/D) plane to date incomplete asteroid families such as Rafita. By monitoring the time behavior of this coefficient for asteroids simulating the initial conditions at the time of the family formation, we were able to estimate that the Rafita family should have an age of 490 ± 200 Myr, in good agreement with results from independent methods such as Monte Carlo simulations of Yarkovsky and Yorp dynamical induced evolution and the time behaviour of the kurtosis of the sin (i) distribution. Asteroids from the Rafita family can reach orbits similar to 8% of the currently known near Earth objects. ≃1% of the simulated objects are present in NEO-space during the final 10 Myr of the simulation, and thus would be comparable to objects in the present-day NEO population.

  2. Strengthening Families: Exploring the Impacts of Family Camp Experiences on Family Functioning and Parenting

    ERIC Educational Resources Information Center

    Garst, Barry A.; Baughman, Sarah; Franz, Nancy K.; Seidel, Richard W.

    2013-01-01

    Research suggests that family camp experiences can enhance family relationships. Families often participate in family camp experiences for a vacation, as part of a therapeutic and/or intervention strategy, or to gain general enrichment or engagement. To better understand the impacts of family camp experiences on family functioning, a mixed-methods…

  3. Smooth School Transitions: Tips for Military Families

    MedlinePlus

    ... Family Life Family Life Family Life Medical Home Family Dynamics Media Work & Play Getting Involved in Your Community ... AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care Communication & Discipline Types of Families ...

  4. Narrative Family Therapy.

    ERIC Educational Resources Information Center

    Walsh, William M.; Keenan, Robert

    1997-01-01

    States that narrative family therapy is informed by social constructionism and postmodern worldviews, and is a relatively significant departure from mainstream psychotherapy. Discusses the use of narrative family therapy. Uses the story of Adam and Eve in the Garden of Eden as an example. (MKA)

  5. Families, Risk, and Competence.

    ERIC Educational Resources Information Center

    Lewis, Michael, Ed.; Feiring, Candice, Ed.

    The problems of studying families arise from the difficulty in studying systems in which there are multiple elements interacting with each other and with the child. This book attests to the growing sophistication of the conceptualization and measurement techniques for understanding family processes. Chapters in the first part of the book,…

  6. Workshops on Family Communication.

    ERIC Educational Resources Information Center

    Galvin, Kathleen M.

    Intended to help speech communication professionals become involved in developing, implementing, and evaluating marital or family enrichment programs, this booklet discusses the theory and practice of using marital enrichment programs to increase family harmony. The first section contains an overview of selected enrichment programs, as well as…

  7. Changing Families, Changing Workplaces

    ERIC Educational Resources Information Center

    Bianchi, Suzanne M.

    2011-01-01

    American families and workplaces have both changed dramatically over the past half-century. Paid work by women has increased sharply, as has family instability. Education-related inequality in work hours and income has grown. These changes, says Suzanne Bianchi, pose differing work-life issues for parents at different points along the income…

  8. Education and the Family.

    ERIC Educational Resources Information Center

    Kaplan, Leonard, Ed.

    This book is the report of the Family Ties Commission, which was established by the Association of Teacher Educators to study the relationship between home and school. Following the preface and two introductory essays, "Education and My Family" (K.B. O'Rourke as told to E. Johnson) and "Preparing for Successful Children" (B. Clawson), the book is…

  9. The Working Family.

    ERIC Educational Resources Information Center

    Boethius, Monica

    1984-01-01

    The working family is today by far the most common family type in Sweden. However, just over 50 percent of the children of working parents have access to day care. Because Swedish income tax policy is based on the concept that all adults will support themselves and does not take into account the number of persons supported on an income, one parent…

  10. Employers, Families and Education.

    ERIC Educational Resources Information Center

    Partnership for Family Involvement in Education (ED), Washington, DC.

    Family involvement in education is good for business, critical to children's school achievement, and important in creating strong and vibrant communities. This report discusses the role of businesses and employers in helping partners and family members be more involved in children's learning. Throughout the report, programs at specific companies…

  11. America's Family Time Famine.

    ERIC Educational Resources Information Center

    Mattox, Jr., William R.

    1990-01-01

    Parents spend increasingly less time with their children because of the pressures of dual careers and single parenthood. Economic pressures and social values have affected sharing of family time. Studies show both parents and children consider spending time together the most important element in improving family life. (BC)

  12. Family Science Night

    ERIC Educational Resources Information Center

    Hansen, Holly; Alderman, Helen Christine

    2016-01-01

    The goal of the Family Science Night (FSN) described in this article was to involve culturally and linguistically diverse families in school life so that students would be more vocal, successful, and interactive in science class. The project would also demonstrate to the students that their teacher valued their input in the classroom. The setting…

  13. Therapy for Family Systems.

    ERIC Educational Resources Information Center

    Rosmann, Michael R.

    A family therapy model, based on a conceptualization of the family as a behavioral system whose members interact adaptively so that an optimal level of functioning is maintained within the system, is described. The divergent roots of this conceptualization are discussed briefly, as are the treatment approaches based on it. The author's model,…

  14. Patent Family Databases.

    ERIC Educational Resources Information Center

    Simmons, Edlyn S.

    1985-01-01

    Reports on retrieval of patent information online and includes definition of patent family, basic and equivalent patents, "parents and children" applications, designated states, patent family databases--International Patent Documentation Center, World Patents Index, APIPAT (American Petroleum Institute), CLAIMS (IFI/Plenum). A table…

  15. Democratization of the Family.

    ERIC Educational Resources Information Center

    Beck, Ulrich

    1997-01-01

    Discusses several issues related to a modern approach in the interpretation of civil freedom and its relationship to the notion of family. First, presents some definitions and distinctions regarding the sociology of political freedom, which it suggests should become the sociology of citizenship. Then, applies those ideas to families, particularly…

  16. Marriage or Family Therapy.

    ERIC Educational Resources Information Center

    Haley, Jay

    1984-01-01

    Reviews the differences between family therapy and marriage counseling in terms of professional organization, theory, and practice. Suggests that training in marriage therapy does not appear adequate for family therapy. The goal of the therapy field should be more consensus in theory and a single profession of therapists. (JAC)

  17. Measuring Family Dynamics.

    ERIC Educational Resources Information Center

    Kunce, Joseph T.; Priesmeyer, Marydeth L.

    1985-01-01

    Investigated dimensions of family dynamics via test construction and cross validation, with a developmental sample (N=93) and a validity generalization sample (N=65). Developed two scales that correlated significantly with perceptions of family stability and quality in the developmental and validity generalization samples. (BH)

  18. Family Support and Education

    ERIC Educational Resources Information Center

    Goldstein, Lou Ann

    2013-01-01

    Family involvement is essential to the developmental outcome of infants born into Neonatal Intensive Care Unit (NICU). In this article, evidence has been presented on the parent's perspective of having an infant in the NICU and the context of family. Key points to an educational assessment are also reviewed. Throughout, the parent's concerns and…

  19. Black Families. Interdisciplinary Perspectives.

    ERIC Educational Resources Information Center

    Cheatham, Harold E., Ed.; Stewart, James B., Ed.

    Since the early 1960s, the black family has been characterized as pathological. This six-part collection of 18 research studies presents alternative approaches to understanding the special characteristics of black families. Part I, "Theoretical and Methodological Perspectives," comprises a comparison of the pioneering work of W. E. B. Du…

  20. Family-Friendly Art

    ERIC Educational Resources Information Center

    Williams, Patterson; Garcia, Maria

    2004-01-01

    In the late 1980s, the Denver Art Museum initiated efforts to make the museum a destination for families. From 1997 to 2001, with a generous grant from The Pew Charitable Trusts, these efforts came to fruition. From the moment they walk through the doors, families' needs are anticipated. For example, they can pick up a welcoming brochure, Free…

  1. The Family Constellation Scale.

    ERIC Educational Resources Information Center

    Lemire, David

    The Family Constellation Scale (FC Scale) is an instrument that assesses perceived birth order in families. It can be used in counseling to help initiate conversations about various traits and assumptions that tend to characterize first-born, middle-born children, youngest-born, and only children. It provides both counselors and clients insights…

  2. Balancing Family and Work.

    ERIC Educational Resources Information Center

    Yahnke, Sally; And Others

    The purpose of this monograph is to present a series of activities designed to teach strategies needed for effectively managing the multiple responsibilities of family and work. The guide contains 11 lesson plans dealing with balancing family and work that can be used in any home economics class, from middle school through college. The lesson…

  3. Marinating the Family.

    ERIC Educational Resources Information Center

    Hensel, Karen A.

    1982-01-01

    Describes the New York Aquarium's program specifically designed for family learning and teaching. The program's goal is to create an environment where child-parent roles are dropped and where the philosophy that no one of us is as smart as all of us prevails. Strategies for family involvement are outlined. (MH)

  4. Reaching Rural Families.

    ERIC Educational Resources Information Center

    Bernard van Leer Foundation Newsletter, 1995

    1995-01-01

    This newsletter issue focuses on programming undertaken to address the health and educational needs of rural families in developing and developed nations. After examining the nature of rural families and rural poverty, the newsletter discusses: (1) the Mon Women's Organization in Thailand; (2) The "Contact With Kids" parent education…

  5. Latino Families Learning Together.

    ERIC Educational Resources Information Center

    Osterling, Jorge P.; Violand-Sanchez, Emma; von Vacano, Marcela

    1999-01-01

    The push for the English-only literacy approach sends the wrong message to language-minority families. The Arlington (Virginia) Public Schools have established first-language pilot programs to accelerate Latino students' academic achievement and have welcomed community-based educational initiatives. A family-literacy program motivates parents to…

  6. Family Perspectives on Prematurity

    ERIC Educational Resources Information Center

    Zero to Three (J), 2003

    2003-01-01

    In this article, seven families describe their experiences giving birth to and raising a premature baby. Their perspectives vary, one from another, and shift over time, depending on each family's circumstances and the baby's developmental course. Experiences discussed include premature labor, medical interventions and the NICU, bringing the baby…

  7. Explaining Family Interactions.

    ERIC Educational Resources Information Center

    Fitzpatrick, Mary Anne, Ed.; Vangelisti, Anita L., Ed.

    A detailed review of current research and state-of-the-art ideas concerning both communication processes and family functioning is presented in this collection of articles. The volume is organized around three sections. Part 1, "The Development of Family Communication Patterns," contains: (1) "Communication in Infancy"…

  8. Transient familial hyperbilirubinemia

    MedlinePlus

    ... please enable JavaScript. Transient familial hyperbilirubinemia is a metabolic disorder that is passed down through families. Babies with ... M. Editorial team. Related MedlinePlus Health Topics Jaundice Metabolic Disorders Browse the Encyclopedia A.D.A.M., Inc. ...

  9. Intervention in Disintegrating Families.

    ERIC Educational Resources Information Center

    Wootton, Ray W.

    A special demonstration project attempted to find means of assisting hard-core multi-problem families in a predominantly rural Idaho county. A single agency was formed to coordinate community activities and provide a variety of services for the needs of the total family. Project personnel included a director, social worker, home economist, public…

  10. Families on the Grow.

    ERIC Educational Resources Information Center

    Lee, Irene K.; Phillips, Marjorie M.

    This correspondence course was designed to help parents better understand their growing children and themselves as parents. The introduction briefly sketches the importance of the family in child development. Each of the five illustrated lessons contains 7 to 12 pages on one aspect of family life. Each lesson contains a set of objectives, a…

  11. Golden Matrix Families

    ERIC Educational Resources Information Center

    Fontaine, Anne; Hurley, Susan

    2011-01-01

    This student research project explores the properties of a family of matrices of zeros and ones that arises from the study of the diagonal lengths in a regular polygon. There is one family for each n greater than 2. A series of exercises guides the student to discover the eigenvalues and eigenvectors of the matrices, which leads in turn to…

  12. Helping Friends and Family

    MedlinePlus

    ... chapter Join our online community Helping Friends and Family Part of living well with Alzheimer’s is adjusting to your “new normal” and helping family and friends do the same. Knowing what to ...

  13. [Focus: Family Communication].

    ERIC Educational Resources Information Center

    Barnes, Richard E., Ed.

    1977-01-01

    This issue of the "Journal of the Wisconsin Communication Association" focuses on family communication and contains the following articles: "Marital Typologies: An Alternative Approach to the Study of Communication in Enduring Relations" by Mary Anne Fitzpatrick, "Intimate Communication and the Family" by Marilyn D. LaCourt, and "A Study in…

  14. Family Reconstruction: The Family within-a Group Experience.

    ERIC Educational Resources Information Center

    Satir, Virginia; And Others

    1988-01-01

    Presents Virginia Satir's Family Reconstruction, a group therapy experience that blends and extends her 1982 process therapy and 1983 conjoint family therapy approaches. Describes the family reconstruction process, the review of family reconstruction data in the pregroup interview, the family reconstruction process in the counseling group, and the…

  15. 75 FR 17946 - Family Report, MTW Family Report

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-04-08

    ... URBAN DEVELOPMENT Family Report, MTW Family Report AGENCY: Office of the Chief Information Officer, HUD... understand demographic, family profile, income, and housing information for participants in the Public... Following Information Title of Proposal: Family Report, MTW Family Report. OMB Approval Number:...

  16. Family intervention for schizophrenia

    PubMed Central

    Pharoah, Fiona; Mari, Jair; Rathbone, John; Wong, Winson

    2014-01-01

    Background People with schizophrenia from families that express high levels of criticism, hostility, or over involvement, have more frequent relapses than people with similar problems from families that tend to be less expressive of emotions. Forms of psychosocial intervention, designed to reduce these levels of expressed emotions within families, are now widely used. Objectives To estimate the effects of family psychosocial interventions in community settings for people with schizophrenia or schizophrenia-like conditions compared with standard care. Search strategy We updated previous searches by searching the Cochrane Schizophrenia Group Trials Register (September 2008). Selection criteria We selected randomised or quasi-randomised studies focusing primarily on families of people with schizophrenia or schizoaffective disorder that compared community-orientated family-based psychosocial intervention with standard care. Data collection and analysis We independently extracted data and calculated fixed-effect relative risk (RR), the 95% confidence intervals (CI) for binary data, and, where appropriate, the number needed to treat (NNT) on an intention-to-treat basis. For continuous data, we calculated mean differences (MD). Main results This 2009-10 update adds 21 additional studies, with a total of 53 randomised controlled trials included. Family intervention may decrease the frequency of relapse (n = 2981, 32 RCTs, RR 0.55 CI 0.5 to 0.6, NNT 7 CI 6 to 8), although some small but negative studies might not have been identified by the search. Family intervention may also reduce hospital admission (n = 481, 8 RCTs, RR 0.78 CI 0.6 to 1.0, NNT 8 CI 6 to 13) and encourage compliance with medication (n = 695, 10 RCTs, RR 0.60 CI 0.5 to 0.7, NNT 6 CI 5 to 9) but it does not obviously affect the tendency of individuals/families to leave care (n = 733, 10 RCTs, RR 0.74 CI 0.5 to 1.0). Family intervention also seems to improve general social impairment and the levels of

  17. A family quarrel? "Developmentalism" or family planning.

    PubMed

    Carder, M

    1974-01-01

    The switch in emphasis in population policies from family planning to the development of socioeconomic policies that would encourage smaller families--summed up in the word "developmentalism"--is charted from a 1967 paper by Kinsley Davis to its culmination at the 1974 World Population Conference, when even as staunch a supporter of family planning as John D. Rockefeller came out in support of placing population policy in the context of economic and social development. The real question is, however: To what extent does developmentalism represent a true shift in policy and how much is simply a more sophisticated rhetoric designed to deflect the growing opposition to population control? On the one hand, the endorsement by a man of Rockefeller's stature indicates a significant change. On the other, the changes which the implementation of developmentalism would entail seem irreconcilable with the present political and economic structures of underdeveloped nations and of relations between them and the more developed countries. Further, developmentalism is neither as progressive as its advocates suggest, nor as threatening as its opponents cry. It is, in fact, a prescription for enhancing the effectiveness of family planning through a form of social engineering from the top; its details--more aid, investment, and trade--would involve an expanded Western role in the Third World. It is even suggested that developmentalism might be a cover for the creation of a more stratified society, where marginal members are restricted to their own quarters in an effort to secure political stability and economic growth. In the end, developmentalism might be shortlived, as pressure to step up birth control programs is felt from many quarters.

  18. [Family oriented nursing care].

    PubMed

    Lima-Rodríguez, Joaquin Salvador; Lima-Serrano, Marta; Sáez-Bueno, Africa

    2009-01-01

    Nursing has experienced an important methodological development, in which it gives priority to the individual, although at a socioeconomic level a marked interest is seen in the health care of the family unit and the NANDA (North American Nursing Diagnosis Association), NIC (Nursing Interventions Classification) and NOC (Nursing Outcomes Classification) nursing guidelines, using diagnoses, criteria of results and interventions orientated towards this aim. We consider to the family as an opened system consisted of human elements, with a common history, which they form a functional unit been ruled by own procedure. In this paper we look at those aspects that must be taken into account in nursing assessment of families from a systemic perspective, including some tools for data collection and analysis of information. In addition, we identify specific areas of intervention. We believe that the family must be studied from a nursing care point of view with its own characteristics as opposed to those possessed individually by each of its members. We also believe that, when assessment is centred on the Henderson unaided activities study or the Gordon functional health patterns, they are not useful in assessing the family unit. This work offers an assessment method centred on the family unit, which helps to identify the nursing diagnoses applicable to it. Our proposal, which has been successfully used by nursing students over the last few years, hopes to contribute to quality clinical practice with a tool orientated towards the family.

  19. Families Get Involved! Learning Partners.

    ERIC Educational Resources Information Center

    Office of Educational Research and Improvement (ED), Washington, DC. Media and Information Services.

    Noting that families who are involved in their children's education make a difference in their child's performance, this two-page information sheet encourages families to get involved by listing the benefits of family involvement on one side and the ways adult family members can help in the school on the other. As a result of family participation:…

  20. Family Centered Maternity Care

    PubMed Central

    Enkin, Murray W.

    1973-01-01

    Current practices of obstetrical care tend to hinder rather than facilitate family development and maturation. A program of family centred maternity care is described. Husbands are invited to prenatal visits, and are involved in intensive preparation for labor and delivery. Their presence and active participation in labor, delivery, and postpartum course are encouraged. This, along with a rooming-in policy for the baby, and the utilization of the postpartum period for an intensive training in parenthood, appears to produce a safe and satisfying obstetrical experience for the family. PMID:20468914

  1. Family Treatment for Schizophrenia

    PubMed Central

    FALLOON, IAN R. H.; MCGILL, CHARISTINE W.; MATTHEWS, SUSAN M.; KEITH, SAMUEL J.; SCHOOLER, NINA R.

    1996-01-01

    The NIMH Treatment Strategies in Schizophrenia (TSS) collaborative study group investigated the efficacy of antisychotic drug maintenance strategies involving reduced medication exposure in interaction with applied and supportive family management for the long-term treatment of schizophrenia. Therapy was provided at five centers by 25 clinicians who did not participate in the development of the therapies. They were trained by two of the authors, I.R.H.F and C.W.M, in applied family management, a homebased treatment derived from the behavioral family therapy developed by them. Clinicians’ characteristics, selection, and training methods, as well as patient rehospitalization rates, are reported for the two family management conditions. The TSS study represents a bridge between the development of a novel therapy and its dissemination in general clinical practice. PMID:22700264

  2. The Family Training Concept

    ERIC Educational Resources Information Center

    Porter, Gwendolyn H.

    1974-01-01

    The author describes a program in which the families of migrant workers were educated, trained, and placed in permanent jobs. This program also provided health, counseling, and child care services. (RWP)

  3. General Dynamics Atlas family

    NASA Astrophysics Data System (ADS)

    Oates, James

    Developments concerning the Atlas family of launch vehicles over the last three or four years are summarized. Attention is given to the center of gravity, load factors, acoustics, pyroshock, low-frequency sinusoidal vibration, and high-frequency random vibration.

  4. Balancing Work & Family.

    ERIC Educational Resources Information Center

    Lee, Chris

    1991-01-01

    Describes the responses of some companies to increasing demands for family-work balance in terms of flexibility in working hours and leave policies, child care, and fringe benefits. Identifies some of the effects on the "bottom line." (SK)

  5. Familial calcific periarthritis.

    PubMed Central

    Hajiroussou, V J; Webley, M

    1983-01-01

    A family of 4 is described in which both children had calcific periarthritis affecting the shoulders, and the mother had radiological evidence of periarticular calcification near the left greater trochanter. PMID:6882045

  6. Children and Families: 1984?

    ERIC Educational Resources Information Center

    Bronfenbrenner, Urie

    1981-01-01

    In order to develop normally, children need emotional involvement and shared activities with one or more adult(s). Public policy in the United States, unlike that of most industrialized societies, is not supportive of family life. (Author/GC)

  7. Family troubles - resources

    MedlinePlus

    The following organizations are good resources for information on child abuse , incest, domestic violence, and family troubles: National Domestic Violence Hotline -- www.thehotline.org Prevent Child Abuse America -- ...

  8. Asbestos: Protect Your Family

    MedlinePlus

    ... Facebook Twitter Google+ Pinterest Contact Us Protect Your Family How to Identify Materials That May Contain Asbestos ... Improper removal may actually increase your and your family’s exposure to asbestos fibers. Top of Page Asbestos ...

  9. The changing American family.

    PubMed

    Thornton, A; Freedman, D

    1983-10-01

    This Bulletin documents recent changes in American family patterns resulting both from longterm trends in urbanization, industrialization, and economic growth and the disruption of the Great Depression and World War 2, as well as changed attitudes toward marriage, parenthood, divorce, and the roles of women. Following a postwar boom in the 1950s and 1960s, marriage rates have now fallen to levels observed in the early 20th century. Since 1970, the number of unmarried couples living together has more than tripled to 1.9 million in 1983. The divorce rate has now stabilized after more than doubling since 1960, but at the current level, 1/2 of all recent marriages will end in divorce. Most divorced persons remarry fairly quickly, often creating complex families of "step-relatives." With 19% of households with minor children now headed by a women with no husband present, up to 1/2 of all children will live for sometime in a fatherless family before age 18. Over 1/2 of all married women, including 49% of married mothers of preschool children, now hold a paid job outside the home. Working wives boost a family's income by an average 40% but still are expected to shoulder most responsiblility for home and childcare. White women now in their 20s say they expect to have an average of 2 children, but are delaying childbearing to such an extent that 29% could end up childless. Most of the elderly live on their own but usually near children whom they see frequently. Despite changes in traditional family patterns, Americans consistently report that a happy marriage and good family are the most important aspects of life. And though most Americans now live with few or no family members, they maintain active contact with a large network of family.

  10. Familiality in brain tumors

    PubMed Central

    Blumenthal, Deborah T.; Cannon-Albright, Lisa A.

    2008-01-01

    Background: Familiality in brain tumors is not definitively substantiated. Methods: We used the Utah Population Data Base (UPDB), a genealogy representing the Utah pioneers and their descendants, record-linked to statewide cancer records, to describe the familial nature of primary brain cancer. We examined the familial clustering of primary brain tumors, including subgroups defined by histologic type and age at diagnosis. The UPDB includes 1,401 primary brain tumor cases defined as astrocytoma or glioblastoma, all with at least three generations of genealogy data. We tested the hypothesis of excess relatedness of brain tumor cases using the Genealogical Index of Familiality method. We estimated relative risks for brain tumors in relatives using rates of brain tumors estimated internally. Results: Significant excess relatedness was observed for astrocytomas and glioblastomas considered as a group (n = 1,401), for astrocytomas considered separately (n = 744), but not for glioblastomas considered separately (n = 658). Significantly increased risks to first- and second-degree relatives for astrocytomas were identified for relatives of astrocytomas considered separately. Significantly increased risks to first-degree relatives, but not second degree, were observed for astrocytoma and glioblastoma cases considered together, and for glioblastoma cases considered separately. Conclusions: This study provides strong evidence for a familial contribution to primary brain cancer risk. There is evidence that this familial aspect includes not only shared environment, but also a heritable component. Extended high-risk brain tumor pedigrees identified in the UPDB may provide the opportunity to identify predisposition genes responsible for familial brain tumors. GLOSSARY GBM = glioblastoma; GIF = Genealogical Index of Familiality; HGG = high-grade gliomas; ICD-O = International Classification of Disease–Oncology; LGG = low-grade gliomas; RR = relative risks; SEER = Surveillance

  11. Swedish Family Policy.

    ERIC Educational Resources Information Center

    Herrstrom, Staffan

    1986-01-01

    Family policy remains one of the leading issues of Swedish domestic politics. All parties are agreed that families with children must be given a better deal in the wake of the economic crisis. But how is this to be done and how quickly can it be achieved? Is the expansion of day nursery facilities to be speeded up, or are parents to be given a…

  12. Family Demands, Social Support and Family Functioning in Taiwanese Families Rearing Children with Down Syndrome

    ERIC Educational Resources Information Center

    Hsiao, C-Y.

    2014-01-01

    Background: Down syndrome (DS) affects not only children but also their families. Much remains to be learned about factors that influence how families of children with DS function, especially families in non-Western populations. The purpose of this cross-sectional, correlational study was to examine how family demographics, family demands and…

  13. Welfare Policies and Black Families.

    ERIC Educational Resources Information Center

    Trader, Harriet Peat

    1979-01-01

    The family is an important resource for minority persons, and many minority families depend on public welfare for their survival. This article offers a compact analysis of how welfare policies often work to the disadvantage of poor Black families. (Author)

  14. Administration for Children and Families

    MedlinePlus

    ... Speeches Videos What is the Administration for Children & Families? The Administration for Children and Families (ACF) is ... Visit the Office of Community Services Website The Family Room Blog RSS Feed Building Community, Building Hope: ...

  15. Mandolin Family Instruments

    NASA Astrophysics Data System (ADS)

    Cohen, David J.; Rossing, Thomas D.

    The mandolin family of instruments consists of plucked chordophones, each having eight strings in four double courses. With the exception of the mandobass, the courses are tuned in intervals of fifths, as are the strings in violin family instruments. The soprano member of the family is the mandolin, tuned G3-D4-A4-E5. The alto member of the family is the mandola, tuned C3-G3-D4-A4. The mandola is usually referred to simply as the mandola in the USA, but is called the tenor mandola in Europe. The tenor member of the family is the octave mandolin, tuned G2-D3-A3-E4. It is referred to as the octave mandolin in the USA, and as the octave mandola in Europe. The baritone member of the family is the mandocello, or mandoloncello, tuned C2-G2-D3-A3. A variant of the mandocello not common in the USA is the five-course liuto moderno, or simply liuto, designed for solo repertoire. Its courses are tuned C2-G2-D3-A3-E4. A mandobass was also made by more than one manufacturer during the early twentieth century, though none are manufactured today. They were fretted instruments with single string courses tuned E1-A1-D2-G2. There are currently a few luthiers making piccolo mandolins, tuned C4-G4-D5-A5.

  16. Military Families: Child Care Support During Deployments

    MedlinePlus

    ... Family Life Family Life Family Life Medical Home Family Dynamics Media Work & Play Getting Involved in Your Community ... AAP Find a Pediatrician Family Life Medical Home Family Dynamics Media Work & Play Getting Involved in Your Community ...

  17. Molecular tweezers targeting transthyretin amyloidosis.

    PubMed

    Ferreira, Nelson; Pereira-Henriques, Alda; Attar, Aida; Klärner, Frank-Gerrit; Schrader, Thomas; Bitan, Gal; Gales, Luís; Saraiva, Maria João; Almeida, Maria Rosário

    2014-04-01

    Transthyretin (TTR) amyloidoses comprise a wide spectrum of acquired and hereditary diseases triggered by extracellular deposition of toxic TTR aggregates in various organs. Despite recent advances regarding the elucidation of the molecular mechanisms underlying TTR misfolding and pathogenic self-assembly, there is still no effective therapy for treatment of these fatal disorders. Recently, the "molecular tweezers", CLR01, has been reported to inhibit self-assembly and toxicity of different amyloidogenic proteins in vitro, including TTR, by interfering with hydrophobic and electrostatic interactions known to play an important role in the aggregation process. In addition, CLR01 showed therapeutic effects in animal models of Alzheimer's disease and Parkinson's disease. Here, we assessed the ability of CLR01 to modulate TTR misfolding and aggregation in cell culture and in an animal model. In cell culture assays we found that CLR01 inhibited TTR oligomerization in the conditioned medium and alleviated TTR-induced neurotoxicity by redirecting TTR aggregation into the formation of innocuous assemblies. To determine whether CLR01 was effective in vivo, we tested the compound in mice expressing TTR V30M, a model of familial amyloidotic polyneuropathy, which recapitulates the main pathological features of the human disease. Immunohistochemical and Western blot analyses showed a significant decrease in TTR burden in the gastrointestinal tract and the peripheral nervous system in mice treated with CLR01, with a concomitant reduction in aggregate-induced endoplasmic reticulum stress response, protein oxidation, and apoptosis. Taken together, our preclinical data suggest that CLR01 is a promising lead compound for development of innovative, disease-modifying therapy for TTR amyloidosis.

  18. Oligomeric TTR V30M aggregates compromise cell viability, erythropoietin gene expression and promoter activity in the human hepatoma cell line Hep3B.

    PubMed

    Moreira, Luciana; Beirão, João Melo; Beirão, Idalina; Pinho e Costa, Paulo

    2015-01-01

    Familial amyloidotic polyneuropathy, ATTRV30M (p. TTRV50M) amyloidosis, is a neurodegenerative disease characterized by systemic extracellular amyloid deposition of a mutant transthyretin, TTR V30M. Anemia, with low erythropoietin (EPO) levels and spared kidney function, affects about 25% of symptomatic patients, suggesting a blockage of EPO-producing cells. Early non-fibrillar TTR aggregates are highly cytotoxic, inducing oxidative stress, the expression of apoptosis-related molecules and secretion of pro-inflammatory cytokines, factors capable of inhibiting EPO production. Low EPO levels in these patients are not related to renal amyloid deposition or the presence of circulating TTR V30M. However, the role of early non-fibrillar TTR aggregates remains unexplored. We used the EPO producing Hep3B human hepatoma cell line to study the effect of TTR oligomeric aggregates on EPO expression. Hep3B cells were incubated with soluble and oligomeric TTR V30M, and cell proliferation as well as caspase 3/7 activation was evaluated. Relative quantification of EPO mRNA transcripts was performed by real-time PCR. Significant reductions in cell viability (13 ± 7.3%) and activation of caspases 3/7 were seen after 24 h in the presence of oligomeric TTR V30M. Also, EPO expression was significantly reduced (50 ± 2.8%), in normoxic conditions. A reporter assay was constructed with a PCR fragment of the EPO promoter linked to the luciferase gene to evaluate the role of transcription factors targeting the promoter. A significant reduction of EPO promoter activity (53 ± 6.5%) was observed in transfected cells exposed to TTR oligomers. Our results show that oligomeric TTR V30M reduces EPO expression, at least in part through inhibition of promoter activity.

  19. Trapping the monomer of a non-amyloidogenic variant of transthyretin: exploring its possible use as a therapeutic strategy against transthyretin amyloidogenic diseases.

    PubMed

    Palhano, Fernando L; Leme, Larissa P; Busnardo, Roberta G; Foguel, Debora

    2009-01-16

    Transthyretin (TTR) is a 127-residue homotetrameric beta-sheet-rich protein that transports thyroxine in the blood and cerebrospinal fluid. The deposition of fibrils and amorphous aggregates of TTR in patients' tissues is a hallmark of TTR amyloid disease. Familial amyloidotic polyneuropathy is a hereditary form of TTR amyloidosis that is associated with one among 80 different variants of TTR. The most aggressive variants of TTR are V30M, L55P, and A25T, and the propensity to undergo aggregation seems to be linked to tetramer stability. T119M is a very stable, non-amyloidogenic variant of TTR. Here we show that the combination of high hydrostatic pressure with subdenaturing concentrations of urea (4 m) at 1 degrees C irreversibly dissociates T119M into monomers in less than 30 min in a concentration-dependent fashion. After pressure and urea removal, long lived monomers are the only species present in solution. We took advantage of the slow reassociation kinetics of these monomers into tetramers to produce heterotetramers by mixing the T119M monomers with the tetramers of the aggressive mutants of TTR. Our data show that T119M monomers can be successfully incorporated into all of these tetramers even when the exchange is performed in a more physiological environment such as human plasma; these monomers render the resultant heterotetramers less amyloidogenic. The data presented here are relevant for the understanding of T119M folding and association reactions and provide a protocol for producing T119M monomers that function as inhibitors of TTR aggregation when incorporated in to tetramers. This protocol may provide a new strategy for treating TTR diseases for which there is no therapy available other than liver transplantation.

  20. Insights into the molecular mechanism of protein native-like aggregation upon glycation.

    PubMed

    Oliveira, Luis M A; Gomes, Ricardo A; Yang, Dennis; Dennison, Sarah R; Família, Carlos; Lages, Ana; Coelho, Ana V; Murphy, Regina M; Phoenix, David A; Quintas, Alexandre

    2013-06-01

    Several human neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and Familial Amyloidotic Polyneuropathy, have long been associated with, structural and functional changes in disease related proteins leading to aggregation into amyloid fibrils. Such changes can be triggered by post-translational modifications. Methylglyoxal modifications have been shown to induce the formation of small and stable native-like aggregates in the case of the amyloidogenic proteins insulin and α-synuclein. However, the fundamental biophysical mechanism underlying such methylglyoxal-induced protein aggregation is not yet fully understood. In this work cytochrome c (Cyt c) was used as a model protein for the characterization of specific glycation targets and to study their impact on protein structure, stability, and ability to form native-like aggregates. Our results show that methylglyoxal covalently modifies Cyt c at a single residue and induces early conformational changes that lead to the formation of native-like aggregates. Furthermore, partially unfolded species are formed, but do not seem to be implicated in the aggregation process. This shows a clear difference from the amyloid fibril mechanisms which involve partially or totally unfolded intermediates. Equilibrium-unfolding experiments show that glycation strongly decreases Cyt c conformational stability, which is balanced with an increase of conformational stability upon aggregation. Data collected from analytical and spectroscopic techniques, along with kinetic analysis based on least-squares parameter fitting and statistical model discrimination are used to help to understand the driving force underlying glycation-induced native-like aggregation, and enable the proposal of a comprehensive thermodynamic and kinetic model for native-like aggregation of methylglyoxal glycated Cyt c.

  1. Family planning Indonesia.

    PubMed

    Singarimbun, M

    1968-06-01

    The growth of family planning activities in Indonesia in the Postwar period is traced; and future prospects for family planning are assessed. Transmigration projects initiated by the Dutch and supported by President Sukarno after Indonesian independence as a means of decreasing population pressure on the island of Java, are identified as the only official response to the population problem until 1965. In the face of the government's opposition to the idea of birth control as a population control measure, the activities of the Indonesian Planned Parenthood Association (IPPA) after its founding in 1957 were limited to advising mothers on spacing of their children for health reasons. Statements made in support of a national family planning program by government officials at a 1967 IPPA Congress and on other occasions are noted. The major components of an approved national family planning program to start in 1969 are described. However, the government's policy as of late 1967 and early 1968 is characterized as one of mainly benevolent encouragement and help to voluntary organizations. The chief impediment to family planning in Indonesia is said to be a lack of motivation and the force of traditional values that favor large families. On the positive side are: 1) Studies showing considerable interest in birth control by the rural population; 2) A long history of traditional birth control practices; 3) The absence of outright opposition by religious groups to the principle of family planning. However, financial costs, the need for the training of personnel, and a general unawareness of the magnitude of the task lying ahead constitute other formidable obstacles.

  2. We Are Family: Using Diverse Family Structure Literature with Children

    ERIC Educational Resources Information Center

    Gilmore, Deanna Peterschick; Bell, Kari

    2006-01-01

    The structure of the American family has changed over the years. Although the traditional father, mother, child structure still dominates, other family patterns are emerging. In this article the authors present: (1) current statistics relating to diverse family structures; (2) reasons for using diverse family structure literature with children;…

  3. Use of family management styles in family intervention research.

    PubMed

    Alderfer, Melissa A

    2006-01-01

    Family management styles (FMSs) explain some of the complexities embedded in a family with a child who has chronic illness. The FMS typologies provide descriptions of family adjustment and management of care. These 5 distinct patterns may be valuable in tailoring and evaluating family interventions in research.

  4. 75 FR 9247 - Single Family Mortgage Insurance Premium, Single Family

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-01

    ... URBAN DEVELOPMENT Single Family Mortgage Insurance Premium, Single Family AGENCY: Office of the Chief... the Single Family Premium Collection Subsystem-Upfront (SFPCS-U) to remit the upfront premium to... manage and process upfront single family mortgage insurance premium collections and corrections to...

  5. Engaging Families in In-Home Family Intervention

    ERIC Educational Resources Information Center

    Thompson, Ronald W.; Koley, Sarah

    2014-01-01

    Boys Town has created a program called In-Home Family Services to deliver help to families in stress. In-home family intervention programs have become widely used to help more families who are at risk and experiencing difficulties with a wide range of problems including domestic violence, child behavior problems, parent-child and family…

  6. Family Development and the Family Life Cycle: An Empirical Evaluation.

    ERIC Educational Resources Information Center

    Spanier, Graham; And Others

    The concept of family life cycle has become increasingly prominent in the study of family development--the formation, maintenance, change, and dissolution of marriage and family relations. An evaluation of this concept is accomplished by examining the relationships between three possible stratification schemes: stage of the family life cycle,…

  7. Attitudes toward family planning.

    PubMed

    Gille, H

    1984-06-01

    Many of the 135 countries participating in the 1974 UN World Population Conference were far from accepting the basic human right to decide freely and responsibly the number and spacing of their children and to have the information, education, and means to do so. Considerable progress has been made since then, and the number of developing countries that provide direct government support for family planning has increased to over 60%. Many have liberalized laws and regulations which restricted access to modern contraceptive methods, and a growing number provide family planning services within their health care programs. A few have recognized the practice of family planning as a constitutional right. In late 1983 at the Second African Population Conference, recognition of family as a human right was strongly contested by several governments, particularly those of West Africa. in developed countries most of the women at risk of unwanted pregnancy are using contraceptives. Of the major developing regions the highest use level is in Latin America, wherein most countries 1/3 to 1/2 of married women are users. Levels in Asian countries range from up to 10% in Afghanistan, Nepal, and Pakistan to up to 40% in the southeastern countries. China, a special case, now probably exceeds an overall use level of 2/3 of married women. Contraceptive use is lowest in Africa. There is room for improvement even among many of the successful family planning programs, as access to contraceptives usually is not sufficient to overcome limiting factors. To ensure the individual's free choice and strengthen the acceptability and practice of family planning, all available methods should be provided in service programs and inluded in information and education activities. Family planning programs should engage local community groups, including voluntary organizations, in all aspects of planning, management, and allocation of resources. At the government level a clear political commitment to family

  8. Effective family planning programs.

    PubMed

    Rosenfield, A G

    1973-01-01

    Organizational and content features of various national family planning programs are reviewed. The Thai program is cited as an example of a family planning program organized on a massive unipurpose compaign basis. The Korean and Taiwan programs have utilized special field workers while upgrading the general health care network. 3 major problems with family planning programs are: 1) the lack of experience with such programs; 2) lack of commitment at the highest political levels; and 3) medical conservatism. Utilization of all available contraceptive methods instead of reliance on 1 method would improve most programs. Nursing and auxiliary personnel could be trained to take over the work of physicians in family planning programs. This is already being done with IUD insertion and pill prescription in several programs. The postpartum tubal ligation approach has proven effective and should be extended. There is a place in all national programs for both the private and the commercial sectors. Incentives for clinics, personnel, and acceptors might spread family planning more rapidly.

  9. [The LDL receptor family].

    PubMed

    Meilinger, Melinda

    2002-12-29

    The members of the LDL receptor family are structurally related endocytic receptors. Our view on these receptors has considerably changed in recent years. Not only have new members of the family been identified, but also several interesting observations have been published concerning the biological function of these molecules. The LDL receptor family members are able to bind and internalize a plethora of ligands; as a consequence, they play important roles in diverse physiological processes. These receptors are key players in the lipoprotein metabolism, vitamin homeostasis, Ca2+ homeostasis, cell migration, and embryonic development. Until recently, LDL receptor family members were thought to be classic endocytic receptors that provide cells with metabolites on one hand, while regulating the concentration of their ligands in the extracellular fluids on the other hand. However, recent findings indicate that in addition to their cargo transport function, LDL receptor family members can act as signal transducers, playing important roles in the development of the central nervous system or the skeleton. Better understanding of physiological and pathophysiological functions of these molecules may open new avenues for the treatment or prevention of many disorders.

  10. Understanding family member suicide narratives by investigating family history.

    PubMed

    Ratnarajah, Dorothy; Maple, Myfanwy; Minichiello, Victor

    2014-01-01

    The complex family environments in which a suicide death had previously occurred were explored in a qualitative study of narratives of suicide-bereaved participants. The participants searched for reasons why the suicide occurred in their family. Family patterning stories and the context of the environment in which the suicide death occurred provided an additional depth of meaning into the relational aspects of the family. Fractured families emerged as an important theme. Shared in the narratives were stories of conditions within the family that may have contributed to vulnerability towards persistent negative feelings about their lives, their family, and their future. The study also identifies the strengths of family culture that led to resilience in the suicide bereaved. These stories highlight the importance of support for those bereaved by the suicide of a close family member and the issues that places people in vulnerable situations that perhaps may explain the increased risk of suicide for those bereaved family members.

  11. Does Aid to Families with Dependent Children Displace Familial Assistance?

    DTIC Science & Technology

    1996-07-01

    RAND Does Aid to Families with Dependent Children Displace Familial Assistance? Robert F. Schoeni July 1996 ■ved id ßuclie releasaj DRU-1453-RC...cite this Working paper without permission of the author. OTIC QUALITY JQSSEEGiaa 1 DOES AID TO FAMILIES WITH DEPENDENT CHILDREN DISPLACE FAMILIAL...Public Affairs at Syracuse University for valuable comments. DOES AID TO FAMTTJES WITH DEPENDENT CHILDREN DISPLACE FAMILIAL ASSISTANCE? Abstract

  12. [Familial hypercholesterolemia in Tunisia].

    PubMed

    Jelassi, A; Jguirim, I; Najah, M; Maatouk, F; Ben Hamda, K; Slimane, M N

    2009-07-01

    Familial hypercholesterolemia or autosomal dominant hypercholesterolemia is characterized by raised serum LDL (low density lipoproteins)-cholesterol levels, which result in excess deposition of cholesterol in tissues, leading to accelerated atherosclerosis and increased risk of premature coronary heart disease. Familial hypercholesterolemia results from defects in the hepatic uptake and degradation of LDL via the LDL receptor pathway. Familial hypercholesterolemia is commonly caused by a loss of function in the LDL receptor gene, or by a mutation in the gene encoding apolipoprotein B (APOB) or PCSK9 gene. In Tunisia, the frequency of this disease is about one of 165 for heterozygote. It is a higher frequency compared to most European countries, which is about one of 500 for heterozygote. Only five mutations in the LDLR gene were reported in this population. No mutations in the APOB or PCSK9 gene were reported.

  13. Characterizing gene family evolution

    PubMed Central

    Liberles, David A.

    2008-01-01

    Gene families are widely used in comparative genomics, molecular evolution, and in systematics. However, they are constructed in different manners, their data analyzed and interpreted differently, with different underlying assumptions, leading to sometimes divergent conclusions. In systematics, concepts like monophyly and the dichotomy between homoplasy and homology have been central to the analysis of phylogenies. We critique the traditional use of such concepts as applied to gene families and give examples of incorrect inferences they may lead to. Operational definitions that have emerged within functional genomics are contrasted with the common formal definitions derived from systematics. Lastly, we question the utility of layers of homology and the meaning of homology at the character state level in the context of sequence evolution. From this, we move forward to present an idealized strategy for characterizing gene family evolution for both systematic and functional purposes, including recent methodological improvements. PMID:19461954

  14. The sulfatase gene family.

    PubMed

    Parenti, G; Meroni, G; Ballabio, A

    1997-06-01

    During the past few years, molecular analyses have provided important insights into the biochemistry and genetics of the sulfatase family of enzymes, identifying the molecular bases of inherited diseases caused by sulfatase deficiencies. New members of the sulfatase gene family have been identified in man and other species using a genomic approach. These include the gene encoding arylsulfatase E, which is involved in X-linked recessive chondrodysplasia punctata, a disorder of cartilage and bone development. Another important breakthrough has been the discovery of the biochemical basis of multiple sulfatase deficiency, an autosomal recessive disorder characterized by a severe of all sulfatase activities. These discoveries, together with the resolution of the crystallographic structure of sulfatases, have improved our understanding of the function and evolution of this fascinating family of enzymes.

  15. AIDS and family planning.

    PubMed

    1992-01-01

    In 1991, an HIV prevention program advisor and a research/evaluation specialist for family planning programs discussed problems that affected HIV prevention and family planning services in Haiti before and after the coup of the Aristide government. Population activities began aimlessly in 1974 and HIV prevention efforts only began in 1988. After the coup, Haitians lost their newly found hope for meaningful development. All foreign assistance ended and they did not trust the army. In fact, other than essential child survival activities, no health and family planning services operated for several weeks. The situation grew worse after the economic embargo. 3 months after the coup, the US considered adding family planning assistance. Still little movement of condom, family planning, and health supplies left Port-au-Prince for the provinces which adversely affected all health related efforts. Condoms could no longer be distributed easily either in the socially marketed or US supplied condom distribution programs. Before the coup, HIV prevention and family planning programs depended on peer educators to educate the public (this approach made these programs quite successful), but the 2 experts feared that they would not return to those roles and that these programs would need to completely rebuild. Another concern was the large scale urban-rural migration making it difficult for them to continue care. Early in the AIDS epidemic, the Haitian government was on the defensive because the US considered Haitians as a high risk group so it did little to prevent HIV transmission. After 1988, HIV prevention activities in Haiti centered on raising awareness and personalizing the epidemic. The AIDS specialist noted, however, that a major obstacle to increasing knowledge is that AIDS is just 1 of many fatal diseases in Haiti. Moreover few health professionals in Haiti have ever had public health training.

  16. Etiology of amyloidosis determines myocardial 99mTc-DPD uptake in amyloidotic cardiomyopathy.

    PubMed

    Longhi, Simone; Bonfiglioli, Rachele; Obici, Laura; Gagliardi, Christian; Milandri, Agnese; Lorenzini, Massimiliano; Guidalotti, Pier Luigi; Merlini, Giampaolo; Rapezzi, Claudio

    2015-05-01

    Tc-DPD (Tc-3,3-diphosphono-1,2-propanodicarboxylic acid) has a high affinity for transthyretin (TTR)-infiltrated myocardium, allowing a differential diagnosis with light chain cardiac amyloidosis and other nonamyloidotic cardiomyopathies with a hypertrophic phenotype, in which myocardial tracer uptake is low or absent. Myocardial bone tracer uptake in the rarer forms of amyloidosis (eg, apolipoprotein-related) has been rarely studied. We present 4 cases of cardiac amyloidosis that underwent Tc-DPD scintigraphy; myocardial DPD uptake was present in patients with ATTR, wtTTR and apolipoprotein AI and negative in cases with AL and apolipoprotein AII-related disease.

  17. [Non-amyloidotic glomerular disease caused by light-chain deposits: a case report].

    PubMed

    Cantillo, Jorge de Jesús; López, Rocío del Pilar; Andrade, Rafael Enrique

    2009-12-01

    The nephropathy of monoclonal gammopathies is principally caused by light chain deposits of fragmented immunoglobins. Paraprotein-related renal diseases are associated with such deposits of intact (heavy chain) or fragmentary (light chain) immunoglobins. A condition of pathological light chain deposits is rare and characterized by deposits of fragments of monoclonal immunoglobulins in many organs. Renal deposits occur primarily in glomeruli and tubular basement membranes. This disease is frequently associated with lymphoproliferative disorders. The majority of cases are caused by deposits of kappa light chains. Whereas this disease is most frequently associated with hematologic malignancies, occasionally a case occurs without detectable hematological pathologies; these cases are called idiopathic or primary. They usually manifest themselves as severe renal insufficiencies with nephrotic-range proteinuria. No treatment regime has been clearly established and the prognosis is poor. Herein, the clinical and histological characteristics are described regarding the first case in Colombia of light chain deposit disease without symptoms of malignancy.

  18. Gendered Discourse about Family Business

    ERIC Educational Resources Information Center

    Danes, Sharon M.; Haberman, Heather R.; McTavish, Donald

    2005-01-01

    Language patterns of family business owners were explored by identifying discourse styles and emphasized ideas in four presenting contexts: business, family, intersection of family and business, and business success. The content analysis supports the existence of a general discourse style within family businesses and of similarities and…

  19. Family Day Care Training Curriculum.

    ERIC Educational Resources Information Center

    Nakatsu, Gail

    California's Family Day Care Training Program was designed to recruit and train in 7 weeks, Lao, Vietnamese, and Chinese refugees to establish their own state-licensed, family day care homes. Topics in the program's curriculum include an introduction to family day care, state licenses for family day care, state licensing requirements for family…

  20. Family Resilience: Israeli Mothers' Perspectives.

    ERIC Educational Resources Information Center

    Cohen, Orna; Slonim, Iris; Finzi, Ricky; Leichtentritt, Ronit D.

    2002-01-01

    Study reveals components underlying the concept of family resilience based on the perceptions of Israeli women. Five components of family resilience were identified (1) interpersonal relations; (2) ability to share painful feelings; (3) flexibility among family members; (4) connectedness; and (5) family values. Components have practical…

  1. The Power of Family Literacy.

    ERIC Educational Resources Information Center

    National Center for Family Literacy, Louisville, KY.

    This report presents the early findings from the analysis of a family literacy demonstration project under the direction of the National Center for Family Literacy. The data in this report are based upon the experiences of over 300 families who participated in the Toyota Families for Learning Program during the 1992-1993 school year. The first…

  2. Trends in Family Child Care

    ERIC Educational Resources Information Center

    Neugebauer, Roger

    2011-01-01

    The author presents insights from various readers of "ExchangeEveryDay" regarding trends in the world of family child care. Kathleen Reticker of Acre Family Child Care in Lowell, Massachusetts thinks an increasing trend in Family Child Care is the pressure to emulate a Center, instead of seeing family child care as a different model. Over the…

  3. Family Development's First Forty Years.

    ERIC Educational Resources Information Center

    Duvall, Evelyn Millis

    1988-01-01

    Reviews the history of human development, and of family development and its interdisciplinary nature. Explores variations as well as the universality of the family life cycle and developmental tasks. Presents examples of the applications of family developmental concepts by a variety of practitioners in the family field, offering ideas on research…

  4. The Economy, Families and Schools

    ERIC Educational Resources Information Center

    Williamson, Ronald

    2010-01-01

    The recession has impacted American families and the schools their children attend like nothing in recent memory. Many families continue to struggle with the impact of joblessness. The number of homeless children and youth is staggering. Families struggle with access to health care, growing hunger and greater instability in the family unit.…

  5. 75 FR 63753 - Family Offices

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-18

    ... COMMISSION 17 CFR Part 275 RIN 3235-AK66 Family Offices AGENCY: Securities and Exchange Commission. ACTION... define ``family offices'' that would be excluded from the definition of an investment adviser under the... Text of Proposed Rule I. Background ``Family offices'' are entities established by wealthy families...

  6. Family Diversity and School Policy.

    ERIC Educational Resources Information Center

    Lindner, Barbara

    This paper focuses on the mismatch between the diversity of American families and the structure of the schools. An examination of the history of the family reveals that the family of the past was very different from the idealized versions popularized in the media. Data concerning divorce, single-parent families, intergenerational interaction,…

  7. SAP family proteins.

    PubMed

    Fujita, A; Kurachi, Y

    2000-03-05

    Thus far, five members including Dlg, SAP97/hDlg, SAP90/PSD-95, SAP102, and PSD-93/chapsyn110 which belong to SAP family have been identified. Recent studies have revealed that these proteins play important roles in the localization and function of glutamate receptors and K(+) channels. Although most of them have been reported to be localized to the synapse, only one member, SAP97, is expressed also in the epithelial cells. In this review, we have summarized structural characters of SAP family proteins and discuss their functions in neurons and epithelial cells.

  8. Incarceration in fragile families.

    PubMed

    Wildeman, Christopher; Western, Bruce

    2010-01-01

    Since the mid-1970s the U.S. imprisonment rate has increased roughly fivefold. As Christopher Wildeman and Bruce Western explain, the effects of this sea change in the imprisonment rate--commonly called mass imprisonment or the prison boom--have been concentrated among those most likely to form fragile families: poor and minority men with little schooling. Imprisonment diminishes the earnings of adult men, compromises their health, reduces familial resources, and contributes to family breakup. It also adds to the deficits of poor children, thus ensuring that the effects of imprisonment on inequality are transferred intergenerationally. Perversely, incarceration has its most corrosive effects on families whose fathers were involved in neither domestic violence nor violent crime before being imprisoned. Because having a parent go to prison is now so common for poor, minority children and so negatively affects them, the authors argue that mass imprisonment may increase future racial and class inequality--and may even lead to more crime in the long-term, thereby undoing any benefits of the prison boom. U.S. crime policy has thus, in the name of public safety, produced more vulnerable families and reduced the life chances of their children. Wildeman and Western advocate several policy reforms, such as limiting prison time for drug offenders and for parolees who violate the technical conditions of their parole, reconsidering sentence enhancements for repeat offenders, and expanding supports for prisoners and ex-prisoners. But Wildeman and Western argue that criminal justice reform alone will not solve the problems of school failure, joblessness, untreated addiction, and mental illness that pave the way to prison. In fact, focusing solely on criminal justice reforms would repeat the mistakes the nation made during the prison boom: trying to solve deep social problems with criminal justice policies. Addressing those broad problems, they say, requires a greater social

  9. Preventive Medicine and the Family

    PubMed Central

    Christie-Seely, Janet

    1981-01-01

    Studies have demonstrated the links between the family system and illness, emphasizing the importance of prevention on a family level for physical as well as psychological illness. Brief preventive counselling on routine visits is possible if the physician knows the family well and understands the principles of the family as a system. Periods of high risk when illness and family dysfunction increase in incidence are the normal “crises” of the family life cycle, medical crises of illness, hospitalization and death, and non-medical crises. High-risk families should be identified; secondary prevention is an important role for the family physician who sees family problems at a much earlier stage than the psychiatrist or marital or family therapist. PMID:21289689

  10. Family Resilience in the Military

    PubMed Central

    Meadows, Sarah O.; Beckett, Megan K.; Bowling, Kirby; Golinelli, Daniela; Fisher, Michael P.; Martin, Laurie T.; Meredith, Lisa S.; Osilla, Karen Chan

    2016-01-01

    Abstract Military life presents a variety of challenges to military families, including frequent separations and relocations as well as the risks that service members face during deployment; however, many families successfully navigate these challenges. Despite a recent emphasis on family resilience, the U.S. Department of Defense (DoD) does not have a standard and universally accepted definition of family resilience. A standard definition is a necessary for DoD to more effectively assess its efforts to sustain and improve family resilience. RAND authors reviewed the literature on family resilience and, in this study, recommend a definition that could be used DoD-wide. The authors also reviewed DoD policies related to family resilience, reviewed models that describe family resilience and identified key family resilience factors, and developed several recommendations for how family-resilience programs and policies could be managed across DoD. PMID:28083409

  11. Family Interactions in Adoptive Compared to Nonadoptive Families

    PubMed Central

    Rueter, Martha A.; Keyes, Margaret A.; Iacono, William G.; McGue, Matt

    2009-01-01

    Despite the large and growing numbers of adoptive families, little research describes interactions in families with adopted adolescents. Yet, adopted adolescents’ increased risk for adjustment problems, combined with the association between family interactions and adolescent adjustment in nonadoptive families, raises questions about differences in adoptive and nonadoptive family interactions. We compared observed and self-reported family interactions between 284 adoptive and 208 nonadoptive families and within 123 families with 1 adopted and 1 nonadopted adolescent. Adolescents averaged 14.9 years of age. Comparisons were made using analysis of variance incorporating hierarchical linear methods in SAS PROC MIXED to control family-related correlations in the data. Parents and children reported more conflict in adoptive families when compared with nonadoptive families. Families with 1 adopted and 1 nonadopted adolescent reported more conflict between parents and adopted adolescents. Observed parental behavior was similar across adoptive and nonadoptive children although adopted adolescents were less warm and, in families with 2 adopted children, more conflictual than nonadopted adolescents. These findings suggest a need for further investigation of the association between family interactions and adopted adolescent problem behavior. PMID:19203160

  12. All in the Family

    ERIC Educational Resources Information Center

    Lum, Lydia

    2010-01-01

    Even as a little girl, Dr. Nitasha Sharma aspired to become a college professor like her parents, whose careers let the family spend entire summers or longer in either her mother's native Brooklyn, New York, or her father's native India. She dreamed of long vacations as a grown-up and going home for lunch on weekdays. But during a stay in India…

  13. Endangered Language Families

    ERIC Educational Resources Information Center

    Whalen, D. H.; Simons, Gary F.

    2012-01-01

    Linguists have increased their documentation efforts in response to the sharp decline in the number of languages. Greater awareness and new sources of funding have led to an upsurge in language documentation. While individual languages make unique contributions to the world's linguistic heritage, language families, by virtue of their shared…

  14. Helping Families Cope.

    ERIC Educational Resources Information Center

    Goodman, Carol R.

    The paper presents observations of families having adult members with learning disabilities and describes a residential program to facilitate the transition to independent living of lower functioning learning disabled young adults. The program, called Independence Center, involves placing participants in apartments with roommates and helping them…

  15. A Migrant Family.

    ERIC Educational Resources Information Center

    Brimner, Larry Dane

    This book incorporates many photographs portraying the life of a migrant family in a camp near San Diego, California. Houses in the camp are built of salvaged plywood with plastic sheets as roofs. Twelve-year-old Juan and his two younger brothers sleep on an old mattress atop a plywood platform. Juan's mother, stepfather, and younger sister sleep…

  16. Incarceration in Fragile Families

    ERIC Educational Resources Information Center

    Wildeman, Christopher; Western, Bruce

    2010-01-01

    Since the mid-1970s the U.S. imprisonment rate has increased roughly fivefold. As Christopher Wildeman and Bruce Western explain, the effects of this sea change in the imprisonment rate--commonly called mass imprisonment or the prison boom--have been concentrated among those most likely to form fragile families: poor and minority men with little…

  17. Benign familial hyperphosphatasemia

    SciTech Connect

    Siraganian, P.A.; Mulvihill, J.J.; Mulivor, R.A.; Miller, R.W. )

    1989-03-03

    Elevated alkaline phosphatase activity in serum suggests bone or liver disease or a neoplasm but can also indicate pregnancy or another benign condition. A family with benign hyperphosphatasemia was studied to elucidate the genetics and enzyme defect. Serum total alkaline phosphatase activity was greater than the population mean in all six family members, and more than 7 SDs above the mean in two of four offspring. Monoclonal antibodies to three alkaline phosphatase isoenzymes, intestinal, placental, and tissue nonspecific demonstrated markedly increased intestinal alkaline phosphatase levels in all family members and significantly elevated liver/bone/kidney activity in the two offspring. Guanidine hydrochloride denaturation of the liver/bone/kidney component showed high alkaline phosphatase activity from liver in both siblings and from bone in one. The mode of inheritance in this family is obscure, but a complex regulation of the products of two different alkaline phosphatase genes seems likely. Steps toward diagnosis are suggested. Early recognition of this benign biochemical abnormality should help to avoid unnecessary diagnostic tests.

  18. Alcohol and Family Violence.

    ERIC Educational Resources Information Center

    Covington, Stephanie S.

    There is growing acknowledgement of the association between family violence and alcohol use. A study was conducted to examine the role that abuse plays in the lives of women and to investigate the relationship between alcohol and violence. Data were collected from 35 recovering female alcoholics and 35 nonalcoholic women on their sexual experience…

  19. Family medicine curriculum

    PubMed Central

    Klein, Douglas; Schipper, Shirley

    2008-01-01

    PROBLEM ADDRESSED The Family Medicine Residency Program at the University of Alberta has used academic sessions and clinical-based teaching to prepare residents for private practice. Before the new curriculum, academic sessions were large group lectures given by specialists. These sessions lacked consistent quality, structured topics, and organization. OBJECTIVE OF PROGRAM The program was designed to improve the quality and consistency of academic sessions by creating a new curriculum. The goals for the new curriculum included improved organizational structure, improved satisfaction from the participants, improved resident knowledge and confidence in key areas of family medicine, and improved performance on licensing examinations. PROGRAM DESCRIPTION The new curriculum is faculty guided but resident organized. Twenty-three core topics in family medicine are covered during a 2-year rotating curriculum. Several small group activities, including problem-based learning modules, journal club, and examination preparation sessions, complement larger didactic sessions. A multiple-source evaluation process is an essential component of this new program. CONCLUSION The new academic curriculum for family medicine residents is based on a variety of learning styles and is consistent with the principles of adult learning theory. This structured curriculum provides a good basis for further development. Other programs across the country might want to incorporate these ideas into their current programming. PMID:18272637

  20. Families and Communities (Bookalogues).

    ERIC Educational Resources Information Center

    Martinez, Miriam; Nash, Marcia F.

    1993-01-01

    Presents brief reviews of 26 picture books, chapter books, and informational books that deal with families and/or communities. Notes that the picture books and chapter books cover a wide variety of genres including poetry, realistic fiction, and fantasy and that the informational books have a variety of formats, with the "photo essay" dominating.…

  1. The Family of Adoption.

    ERIC Educational Resources Information Center

    Pavao, Joyce Maguire

    This book aims to provide a broad framework within which to think about adoption as a whole system, so that everyone involved will learn to feel some empathy for the other members of the adoption process. The book, written by a family and adoption therapist who was adopted as an infant, describes predictable developmental stages and challenges for…

  2. Kindergarten: Home and Family.

    ERIC Educational Resources Information Center

    Allegany County Board of Education, Cumberland, MD.

    The curriculum guide presents a working draft of the kindergarten component of a K-6 social studies program developed by the Allegany County Board of Education in Maryland. Goals and activities relating to ethnic heritage studies; family life; and career, consumer, citizenship, and environmental education are included in each of the seven guides.…

  3. [The Iowa Family Farm.

    ERIC Educational Resources Information Center

    Hardesty, Carolyn, Ed.

    1990-01-01

    This issue of the "Goldfinch" focuses on the family farm of the past. All aspects of farm life are covered: what was grown on farms, how the chores were done and who was responsible for them, what the houses were like, and what tools and equipment were used. Comparisons are made between modern farms and farms of 50 or 150 years ago, and…

  4. Family Reunion Health Guide

    MedlinePlus

    ... longer. That’s why testing is so important. The health care provider tests your blood and urine to check how well ... a family history of kidney failure— ask your health care provider to test your kidneys. NATIONAL KIDNEY DISEASE EDUCATION PROGRAM l ...

  5. Serving Migrant Families, 1975.

    ERIC Educational Resources Information Center

    Oliver, Barbara, Ed.

    The directory describes services provided to migratory agricultural workers and their families, through the governmental and nongovernmental agencies interested in and responsible for their well-being. Agencies are grouped into: (1) United States government agencies, (2) North Carolina State government agencies, and (3) private organizations.…

  6. It's a Family Affair

    ERIC Educational Resources Information Center

    Ashburn, Elyse

    2007-01-01

    On paper, Mariella Castillo's family makes her likelier than other students to drop out of college. Her mother left school after the fifth grade, and her father has only a middle-school education. Her parents speak little English, and Castillo, who was born in the Mexican state of San Luis Potosi, spoke her first words in Spanish. Numerous studies…

  7. Not Your Family Farm

    ERIC Educational Resources Information Center

    Tenopir, Carol; Baker, Gayle; Grogg, Jill E.

    2007-01-01

    The information industry continues to consolidate, just as agribusiness has consolidated and now dominates farming. Both the family farm and the small information company still exist but are becoming rarer in an age of mergers, acquisitions, and increased economies of scale. Small companies distinguish themselves by high quality, special themes,…

  8. Family First Considerations

    ERIC Educational Resources Information Center

    LaFee, Scott

    2012-01-01

    The typical superintendent these days is male (though the percentage of female superintendents is steadily rising, now accounting for one in four, according to AASA's 2010 decennial study of the superintendency), in his 40s and almost always married with children. When educators become superintendents, the issues of family dynamics and related…

  9. Family Science Day

    ERIC Educational Resources Information Center

    McCubbins, Sara; Thomas, Bethany; Vetere, Michael

    2014-01-01

    This article describes a family-friendly science day event that encourages scientific discovery through hands-on activities, while also providing an opportunity to learn about scientific careers from actual research scientists and science educators, thereby raising awareness of the importance of STEM in our society. The one-day event bought…

  10. Aging and the Family.

    ERIC Educational Resources Information Center

    Clark, C. Roberta

    1984-01-01

    Discusses emotional, social, medical, and nutritional needs of older people, and stresses the need for education of the families of the elderly and the need for a coordinated approach to service delivery to this population. In this way, maximum independence of the aged can be achieved. (NRJ)

  11. Family Literacy: A Bibliography.

    ERIC Educational Resources Information Center

    Rudd, Amanda S., Comp.

    Based on the concept that literacy is a family affair, this book presents an annotated list of materials published in the 1980s appropriate for use by organizations and individuals involved in literacy training and for learners seeking materials for their personal needs and enrichment. Each of the over 750 entries includes a bibliographic…

  12. Family acholeplasmataceae (including phytoplasmas)

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The family Acholeplasmataceae was originally established to accommodate the genus Acholeplasma, comprising the mollicutes that could be cultivated without the supplement of cholesterol and that use UGA as a stop codon instead of coding for tryptophan. It was later shown that the phytoplasmas, a larg...

  13. [Family planning in Bangladesh].

    PubMed

    Saito, S

    1981-03-01

    The author participated in the family planning project in Bangladesh from August 1, 1977 to December 31, 1979. The population of Bangladesh was 81 million in 1977 with annual increase of 3%, and the government was aiming at zero population growth. The government guidelines emphasized family planning as an effort integrated with other community programs. The use of adult education classes, mass media, and agricultural field workers and the training of paramedical personnel were proposed. The project members' activities involved motivating the public to delay marriages, to space births and to limit the family size to two children (average family size 6.5 children) as well as distributing contraceptives, promoting IUD and sterilization. Sterilization campaign for women in DNN district, 30 km south of Dacca, was carried out as follows. The women who had signed up in advance arrived at the elementary school classroom, where 2 medical teams performed operations using the teachers' desks and the equipment rented from a hospital in Dacca. The general procedure involved a physical examination by a female doctor, checking blood pressure, changing into a brand new native gown, premedication by injection, total anesthesia and operation itself. The equipment was sterilized by boiling. The patients were carried on the stretchers to the other classroom where they recuperated, staying overnight on the straw mats on the mud floor. They went home on foot the next day. The shortage of food and resources, high unemployment rate and low standard of living are some of the social problems Bangladesh faces along with overpopulation.

  14. Family Feathers. [Videotape Series].

    ERIC Educational Resources Information Center

    1999

    Family Feathers is a set of 18 videotapes for parents of preschool children, created by the Alaska Native Home Base Video Project of the Tlingit and Haida Head Start Program. This series offers culturally relevant solutions to the challenges of parenting, drawing on practical advice from Tlingit and Haida parents, wisdom from elders, and some of…

  15. Schizophrenia and the Family.

    ERIC Educational Resources Information Center

    Cook, Barbara J.

    This document addresses the problems faced by families with a schizophrenic member, based on a survey of the literature from a variety of sources including: (1) the Alden Library of Ohio University; (2) the ERIC database; (3) the American Association of Counseling and Development (AACD); and (4) the National Alliance for the Mentally Ill (NAMI).…

  16. [Families Involved in Learning.

    ERIC Educational Resources Information Center

    Ashby, Nicole, Ed.

    2001-01-01

    This issue of "Community Update" focuses on families involved in learning. The first article briefly discusses the "Ready to Read, Ready to Learn" White House summit that highlighted new research on early childhood learning. The center spread of this issue offers "Priming the Primary Educator: A Look at L. A. County's Parent Involvement Programs"…

  17. Family Living Supplement.

    ERIC Educational Resources Information Center

    Truitt, Debbie

    This family living supplement contains 125 supplemental ideas and strategies designed to help vocational home economics teachers increase student motivation and enrich the teaching process. Ideas and strategies are organized into seven sections. These are career planning, securing a job, and career success; managing financial resources, buying…

  18. The Family Fluency Program

    ERIC Educational Resources Information Center

    Morrow, Lesley Mandel; Kuhn, Melanie R.; Schwanenflugel, Paula J.

    2006-01-01

    As part of a larger study on developing children's reading fluency in the classroom, a program was introduced to help parents understand the importance of fluency and participate in fluency-related activities with children at home. The Family Fluency Program included activities similar to those that the children were doing in school, with some…

  19. Profiling Canada's Families II.

    ERIC Educational Resources Information Center

    Vanier Inst. of the Family, Ottawa (Ontario).

    Noting that Canadians have witnessed profound demographic, economic, social, cultural, and technological changes over the last century and the need for sound demographic information for future planning, this report is the second to identify significant trends affecting Canada's families. Following an introductory section providing relevant…

  20. Familial Gigantiform Cementoma

    PubMed Central

    Ma, Chunyue; Wang, Hongwei; He, Guang; Qin, Xingjun

    2016-01-01

    Abstract Familial gigantiform cementoma is an exceedingly rare but distinct subtype of cemento-osseous-fibrous lesion. Undocumented radiographic changes and related bone metabolism disorder are herein hypothesized and discussed. We present an adolescent case with recurrent familial gigantiform cementoma who received surgical intervention in our hospital. Apart from typical multiquadrant and expansile abnormalies involving both jaws, he also suffered from several times of fractures in lower extremity. Furthermore, radiographic examinations of calvaria, pelvis, femoris, tibia, and fibula all revealed radiolucent areas signifying diffuse osteopenic bone losses. Some of his consanguineous relatives bore the same burden of fractures during pubertal period. Considering these polyostotic conditions, a correlation of congenital bone metabolism disorder in cases with familial gigantiform cementoma, named “calcium steal disorder,” was thus proposed. Familial gigantiform cementoma is closely associated with “calcium steal disorder.” Whole-body dual-energy absorptiometry should be considered as a routine examination for fracture-related risk prediction. PMID:26945411

  1. Perspectives on Family Literacy.

    ERIC Educational Resources Information Center

    Literacy Assistance Center, New York, NY.

    This joint publication of the journals of the Literacy Assistance Center (LAC) and the National Even Start Association (NESA) focuses on innovative practices and theory in family literacy education, offers an array of perspectives to members of the literacy community, and critically examines some assumptions about literacy in general, as well as…

  2. Getting a High-Speed Family Connection: Associations between Family Media Use and Family Connection

    ERIC Educational Resources Information Center

    Padilla-Walker, Laura M.; Coyne, Sarah M.; Fraser, Ashley M.

    2012-01-01

    The way families have used the media has substantially changed over the past decade. Within the framework of family systems theory, this paper examines the relations between family media use and family connection in a sample of 453 adolescents (mean age of child = 14.32 years, SD = 0.98, 52% female) and their parents. Results revealed that cell…

  3. Family Literacy as a Welfare Reform Strategy. Family Independence Initiative Audioconference. Family Independence Initiative Publication #2.

    ERIC Educational Resources Information Center

    National Center for Family Literacy, Louisville, KY.

    In 1997, the National Center for Family Literacy convened four state policymakers for an audioconference to discuss five issues related to family literacy and its role as a welfare reform strategy. First, with regard to the value of family literacy, policymakers saw literacy as the key to employment and job retention. Second, family literacy was a…

  4. Perceived Family Functioning and Family Resources of Hong Kong Families: Implications for Social Work Practice

    ERIC Educational Resources Information Center

    Ma, Joyce L. C.; Wong, Timothy K. Y.; Lau, Luk King; Pun, Shuk Han

    2009-01-01

    This article reports the results of a telephone survey (n = 1,015 respondents) that aims to identify the perceived general family functioning and family resources of Hong Kong Chinese families and their linkage to each other in a rapidly transforming society. The perceived general family functioning of the respondents was average, and the five…

  5. Family Support Builds Stronger Families: The Roots of Family-Supportive Child Care

    ERIC Educational Resources Information Center

    Seiderman, Ethel

    2009-01-01

    Parent Services Project (PSP) is one model of family support that emerged from the heightened awareness of families' needs. Founded in 1980 to integrate family support into four San Francisco Bay Area early childhood programs, PSP since has spread to more than 800 organizations serving 30,000 families in Alaska, California, Delaware, Florida,…

  6. [Family relationships and family therapy of eating disorders].

    PubMed

    Reich, Günter

    2005-04-01

    A multitude of empirical studies clearly demonstrates that the origin and course of eating disorders is closely linked to family factors. The influence is exerted in a direct way by conveying attitudes towards food, eating, weight, shape and appearance within the family and in a more indirect way by the family relationships. Families of bulimics differ from those of anorexics by a higher degree of conflict, impulsivity, expressiveness and by lower affective resonance and cohesion. Family therapy has proven to be effective in the treatment of eating disorders. A sketch of a family therapy describes the conflict oriented approach which includes behavioral elements in oder to stabilize the eating behavior and the weight.

  7. The impact of family functioning on family racial socialization processes.

    PubMed

    Robbins, Michael S; Szapocznik, José; Mayorga, Carla C; Dillon, Frank R; Burns, Myron; Feaster, Daniel J

    2007-10-01

    This longitudinal study evaluated the relationship between family functioning and family racial socialization processes in a clinical sample of African American youth referred for drug abuse treatment. Participants were 77 African American adolescents and their parents. Results showed that participants assigned to structural ecosystems therapy experienced a greater increase in family racial socialization processes during treatment than participants assigned to the treatment as usual in community settings condition. Participants in structural ecosystems therapy also demonstrated a greater increase in family functioning than participants in community settings condition, and this improvement in family functioning mediated the relationship between treatment condition and family racial socialization processes. Research and clinical implications are discussed.

  8. Family Patterns Associated with Anorexia Nervosa.

    ERIC Educational Resources Information Center

    Grigg, Darryl N.; And Others

    1989-01-01

    Used family systems perspective to explore familial transactional patterns related to anorexia nervosa among 22 families with an anorexic child and 22 matched control families. Identified 7 family groups with unique family dynamics differentiating one from another. With no single family pattern characterizing families of anorexics, results…

  9. At the Table with Family and Making Family Meals Manageable

    MedlinePlus

    ... healthful food choices. Over 1,700 high school students were surveyed and reported strong associations between family ... the nearly 100,000 6th to 12th grade students who were surveyed, with consideration for differing family ...

  10. Balancing Family and Career

    NASA Astrophysics Data System (ADS)

    Andam, Aba Bentil; Dawson, Silvina Ponce; Horton, K. Renee; Sandow, Barbara

    2005-10-01

    In essentially all countries, responsibilities for child care, cooking, cleaning, and other homemaking tasks fall predominantly on the wife and mother. In addition, the childbearing years come during the period when a physicist must study hard, work long hours on research, and take temporary positions, often abroad. Thus, balancing family and career has long been one of the major barriers to women's participation in science and engineering fields, including physics. While many young women believe that they must choose between having children and having a science career, the fact is that the majority of women physicists in both developing and developed countries have successfully done both. This paper summarizes some ideas and recommendations raised in discussions, especially focused on easing the challenges of having children while in temporary jobs, returning to physics after a career break, the need for "family-friendly" working conditions, and the dual-career problem facing couples where both are scientists.

  11. Family functioning in lesbian families created by donor insemination.

    PubMed

    Vanfraussen, Katrien; Ponjaert-Kristoffersen, Ingrid; Brewaeys, Anne

    2003-01-01

    The quantitative and qualitative data of this study on family functioning in lesbian donor insemination families reveal that according to both parents and children, the quality of children's relationship with the social mother is comparable to that with the biological mother. Unlike fathers in heterosexual families, the lesbian social mother is as much involved in child activities as is the biological mother. Furthermore, the lesbian social mother has as much authority as does the father in heterosexual families.

  12. Enhancing family resilience through family narrative co-construction.

    PubMed

    Saltzman, William R; Pynoos, Robert S; Lester, Patricia; Layne, Christopher M; Beardslee, William R

    2013-09-01

    We draw upon family resilience and narrative theory to describe an evidence-based method for intervening with military families who are impacted by multiple wartime deployments and psychological, stress-related, or physical parental injuries. Conceptual models of familial resilience provide a guide for understanding the mechanics of how families respond and recover from exposure to extreme events, and underscore the role of specific family processes and interaction patterns in promoting resilient capabilities. Leading family theorists propose that the family's ability to make meaning of stressful and traumatic events and nurture protective beliefs are critical aspects of resilient adaptation. We first review general theoretical and empirical research contributions to understanding family resilience, giving special attention to the circumstances, challenges, needs, and strengths of American military families. Therapeutic narrative studies illustrate the processes through which family members acquire meaning-making capacities, and point to the essential role of parents' in facilitating discussions of stressful experiences and co-constructing coherent and meaningful narratives. This helps children to make sense of these experiences and develop capacities for emotion regulation and coping. Family-based narrative approaches provide a structured opportunity to elicit parents' and children's individual narratives, assemble divergent storylines into a shared family narrative, and thereby enhance members' capacity to make meaning of stressful experiences and adopt beliefs that support adaptation and growth. We discuss how family narratives can help to bridge intra-familial estrangements and re-engage communication and support processes that have been undermined by stress, trauma, or loss. We conclude by describing a family-based narrative intervention currently in use with thousands of military children and families across the USA.

  13. Galileo - Ganymede Family Night

    NASA Technical Reports Server (NTRS)

    1996-01-01

    This videotape is a continuation of tape number NONP-NASA-VT-2000036029. When the Galileo spacecraft flew by Ganymede, Jupiter's and the solar system's largest satellite, the project scientist and engineers gather together with their friends and family to view the photos as they are received. This videotape presents the last part of that meeting, which culminates in the announcement of the confirmation of the fly-by, and a review of the current trajectory status.

  14. Natural family planning.

    PubMed

    Davis, M S

    1992-01-01

    Natural family planning includes the calendar (rhythm), basal body temperature, ovulation (mucus), and sympto-thermal methods. Reliability of such methods often is underestimated, but effectiveness of various methods has been reported. Correct understanding and use of proper techniques, primarily abstinence during fertile periods, is imperative for effectiveness. New methods being studied may heighten awareness of fertile times and shorten required periods of abstinence or use of back-up methods.

  15. [Familial juvenile hyperuricemic nephropathy].

    PubMed

    Hummel, Aurélie

    2012-04-01

    Familial juvenile hyperuricemic nephropathy is a rare autosomal dominant disease. It is characterized by abnormal handling of urate responsible for hyperuricaemia often complicated of gouty arthritis. Renal failure is due to tubulointerstitial nephritis. Ultrasonography sometimes finds renal cysts of variable size and number. Renal histology, although not specific, shows interstitial fibrosis, atrophic tubules, sometimes enlarged and with irregular membrane thickening. Renal failure progresses to end stage between 30 and 60 years of age. Allopurinol treatment is recommended at the early stages of the disease, its efficacy on slowing down the progression of the disease is however not proven. There is genetic heterogeneity in familial juvenile hyperuricemic nephropathy. Uromodulin encoding Tamm-Horsfall protein is the only gene to date identified, responsible in less than half of the families. The described mutations most often concern a cystein and are clustering in exon 4. These mutations result in abnormal retention of the protein in endoplasmic reticulum of Henle loop cells and in reduction of its urinary excretion. The pathophysiology of the disease is however still dubious. Indeed, Tamm-Horsfall protein functions are not well known (anti-infectious role, cristallisation inhibition, immunomodulating role). Knock-out mice do not develop renal phenotype but are more prone to E. coli urinary infections. Uromodulin gene mutations have also been described in medullary cystic kidney disease, an autosomal dominant tubulointerstitial nephropathy, considered at first as a distinct disorder. Genetic progress allowed us to consider familial juvenile hyperuricemic nephropathy and medullary cystic kidney disease as the two facets of a same disease, we should call uromodulin associated kidney diseases. At least two other genes have been implicated in similar clinical presentation: TCF2 and the gene encoding renin.

  16. Lipidomics of familial longevity.

    PubMed

    Gonzalez-Covarrubias, Vanessa; Beekman, Marian; Uh, Hae-Won; Dane, Adrie; Troost, Jorne; Paliukhovich, Iryna; van der Kloet, Frans M; Houwing-Duistermaat, Jeanine; Vreeken, Rob J; Hankemeier, Thomas; Slagboom, Eline P

    2013-06-01

    Middle-aged offspring of nonagenarians, as compared to their spouses (controls), show a favorable lipid metabolism marked by larger LDL particle size in men and lower total triglyceride levels in women. To investigate which specific lipids associate with familial longevity, we explore the plasma lipidome by measuring 128 lipid species using liquid chromatography coupled to mass spectrometry in 1526 offspring of nonagenarians (59 years ± 6.6) and 675 (59 years ± 7.4) controls from the Leiden Longevity Study. In men, no significant differences were observed between offspring and controls. In women, however, 19 lipid species associated with familial longevity. Female offspring showed higher levels of ether phosphocholine (PC) and sphingomyelin (SM) species (3.5-8.7%) and lower levels of phosphoethanolamine PE (38:6) and long-chain triglycerides (TG) (9.4-12.4%). The association with familial longevity of two ether PC and four SM species was independent of total triglyceride levels. In addition, the longevity-associated lipid profile was characterized by a higher ratio of monounsaturated (MUFA) over polyunsaturated (PUFA) lipid species, suggesting that female offspring have a plasma lipidome less prone to oxidative stress. Ether PC and SM species were identified as novel longevity markers in females, independent of total triglycerides levels. Several longevity-associated lipids correlated with a lower risk of hypertension and diabetes in the Leiden Longevity Study cohort. This sex-specific lipid signature marks familial longevity and may suggest a plasma lipidome with a better antioxidant capacity, lower lipid peroxidation and inflammatory precursors, and an efficient beta-oxidation function.

  17. Family planning: where now?

    PubMed

    Saunders, L

    1977-01-01

    The focus is in terms of family planning as an exercise in induced social change; the objective is to alter the reproductive patterns of societies sufficiently to bring about a significant reduction in fertility. The year 1974 emerges as the year in which family planning as a social movement achieved maturity and was confirmed as a legitimate area for national policy and programming, a year of determined and varied efforts to reduce population growth. In affirming the rights and responsibilities of people and the obligations of governments in population concerns, the Bucharest Conference conferred its seal of approval on a movement that had made considerable progress since it began early in the 19th century. The evolution of birth control as a social movement which began with Francis Place's printing and distributing contraceptive bills in 1820 was encouraged by other writings in England and the U.S. over the next 50 years. Several overlapping phases can be distinguished in the global response to a new sense of urgence regarding population concerns following World War 2. Moving from a global perspective to consideration of family planning as it exists in the programs of individual countries, the achievement is not so great and the prospects are less hopeful. Although it has had success as a social movement and is now accepted as a government responsibility, family planning programs still have a long way to go before they develop the scope, vigor, and versatility that is required for there to be widespread demographic change. 1 change that is needed is for a stronger and more visible political commitment and commitment on the basis of demographic rather than health or welfare reasons.

  18. Psychoanalysis: a dysfunctional family?

    PubMed

    Grosskurth, P

    1998-01-01

    The discussion opens with an account of the author's mother's bizarre family in which a strong, charismatic grandmother maintained absolute control over her large family by encouraging a neurotic dependence in them through daily reports of their complaints. Getting interested in psychoanalysis in an effort to understand the dynamics of this dysfunctional family, the author, a biographer, turned to the study of Melanie Klein, becoming entranced by her ideas. Her research also revealed how Klein had discouraged her followers from developing ideas that diverged in any way from her own. Her portrait of the pioneer analyst provoked intense indignation. A similar pattern of absolute loyalty to his person and theories was to be found in Freud's Secret Committee, formed primarily as a means of getting rid of Jung who had been showing disturbing signs of independence. When Ferenczi and Rank began to pursue independent lines of enquiry in their work, they too were though to be undermining the foundations of classical psychoanalysis. Finally, the author concludes that though there have been sorry incidents in psychoanalysis, we should be mature enough to accept both the contributions of the early pioneers and the realizations that new ideas must be permitted to evolve.

  19. Family planning: Muslim style.

    PubMed

    Virina, I

    1979-01-01

    Early birth control methods practiced by Muslims included a version of rhythm called takwim. Instead of using a thermometer to determine the safe period, the woman pressed her navel hard. If she felt magnetic sensations she was not in the safe period. Withdrawal, called piil, was also used. Old folks prepared juices extracted from roots like safran, pitawali, and when drunk they contracted the uterus and prevented pregnancy. New methods and programs have not gained popularity because of traditional medicines. Some early methods are still used today. To some Muslims sex is sacred and should not be talked about in polite conversation. If a Muslim discusses sex in front of others he has no delicadeza. Muslims must voluntarily accept family planning. If they are forced they reject the idea entirely. Extensive radio drama series have been broadcast since the establishment of the Provincial Population Office in Jolo in 1977. Muslims still believe in having many children as security in cases of tribal or interfamily feuds. Family planning workers in Stanvac, Zamboanga use the economic approach for motivating people. The financial burden of raising a big family is emphasized.

  20. Family Counseling Interventions: Understanding Family Systems and the Referral Process.

    ERIC Educational Resources Information Center

    McWhirter, Ellen Hawley; And Others

    1993-01-01

    This article describes concepts underlying the idea of the "family as a system"; compares and contrasts four approaches to family therapy (those of Virginia Satir, Jay Haley, Murray Bowen, and Salvador Minuchin); and offers suggestions to teachers referring parents for family counseling. (DB)