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Sample records for familial amyloidotic polyneuropathy

  1. Representation of illness in Familial Amyloidotic Polyneuropathy Portuguese Association newspaper: A documental study.

    PubMed

    Novais, Sónia Alexandra de Lemos; Mendes, Felismina Rosa Parreira

    2016-03-01

    This study explores illness representations within Familial Amyloidotic Polyneuropathy Portuguese Association newspaper . A content analysis was performed of the issue data using provisional coding related to the conceptual framework of the study. All dimensions of illness representation in Leventhal's Common Sense Model of illness cognitions and behaviors are present in the data and reflect the experience of living with this disease. Understanding how a person living with an hereditary, rare, neurodegenerative illness is important for developing community nursing interventions. In conclusion, we suggest an integration of common sense knowledge with other approaches for designing an intervention program centered on people living with an hereditary neurodegenerative illness, such as familial amyloidotic polyneuropathy.

  2. 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.

  3. Radioimmunoassay for detecting abnormal prealbumin in the serum for diagnosis of familial amyloidotic polyneuropathy (Japanese type)

    SciTech Connect

    Nakazato, M.; Kangawa, K.; Minamino, N.; Tawara, S.; Matsuo, H.; Araki, S.

    1984-07-31

    In the serum of a Japanese patient with familial amyloidotic polyneuropathy (FAP), we demonstrated the presence of a prealbumin variant using a single amino acid substitution of a methionine residue for a valine at position 30. We have developed a highly sensitive and specific method for quantitative analysis of the prealbumin variant in the sera of FAP patients by using radioimmunoassay for a nonapeptide corresponding to subsequence (22-30) of the prealbumin variant. This peptide is produced from the prealbumin variant by cyanogen bromide cleavage followed by tryptic digestion. The serum administration of the prealbumin variant in five Japanese FAP patients ranges from 1.0 mg/dl to 7.8 mg/dl, which is 100 times or even higher than normal animals. This method should be helpful for an early diagnosis of this hereditary disease. 6 references, 4 figures, 1 table.

  4. 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

  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. PMID:27374684

  6. Scavenger treatment of free radical injury in familial amyloidotic polyneuropathy: a study on Swedish transplanted and non-transplanted patients.

    PubMed

    Suhr, O B; Lång, K; Wikström, L; Anan, I; Ando, Y; El-Salhy, M; Holmgren, G; Tashima, K

    2001-02-01

    Since oxidative stress has been implicated in amyloid diseases, a study of scavenger treatment of hereditary transthyretin amyloidosis was undertaken on 23 familial amyloidotic polyneuropathy (FAP) patients. Nine patients had undergone a liver transplantation for the disease. Twenty patients completed the 6-month study period of scavenger treatment (vitamin C, 1 g, three times daily, vitamin E, 0.1 g, three times daily and acetylcysteine, 0.2 g three times daily). They were evaluated clinically and by immunohistochemical measurement of hydroxynonenal (HNE), a product of lipid peroxidation, in biopsy specimens. For non-transplanted patients, no improvement was found for HNE in relation to the amyloid content in biopsy specimens, whereas a tendency to a decreased amount was noted for transplanted patients. Clinically, no differences were found for non-transplanted patients, but an increased nutritional status, measured by a modified body mass index (mBMI) was noted for transplanted patients. In summary, scavenger treatment with the drugs and doses used in the present study appears to be unable to decrease lipid peroxidation in amyloid-rich tissue in non-transplanted FAP patients. For transplanted patients, lipid peroxidation tended to decrease, and the nutritional status measured by mBMI improved, even though the findings may be explained by liver transplantation alone, scavenger treatment may facilitate recovery after transplantation.

  7. 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

  8. Sulfite and base for the treatment of familial amyloidotic polyneuropathy: two additive approaches to stabilize the conformation of human amyloidogenic transthyretin.

    PubMed

    Altland, Klaus; Winter, Pia; Saraiva, Maria Joao M; Suhr, Ole

    2004-02-01

    Recently, we presented evidence that sulfite protects transthyretin (TTR) from normal human individuals and heterozygotes with amyloidogenic TTR mutations against the decay of tetramers into monomers. In this paper we demonstrate a stabilizing effect of sulfite on TTR tetramers from a familial amyloidotic polyneuropathy (FAP) patient homozygous for the most-common amyloidogenic TTR-V30 M mutation. We compare the conformational stability of partially sulfonated TTR from a heterozygote for normal TTR and amyloidogenic TTR-V30 M with the stability of untreated TTR from a compound heterozygote for amyloidogenic TTR-V30 M and TTR-T119 M known to have only minor or no problems of FAP. Using a combination of polyacrylamide gel electrophoresis (PAGE) and sodium dodecyl sulfate (SDS) gradient PAGE we demonstrate that TTR dimers containing amyloidogenic TTR mutations decay into monomers at pH<7.4. Increasing the pH by some 0.2 units within physiological ranges, i.e., pH 7.0-7.4, and sulfonation of TTR were observed to have additive inhibitory effects on the transition of dimers into monomers. We conclude that mild acidifying episodes in the interstitial volume of tissues at risk for amyloidosis could contribute to the development of FAP. Early and permanent efforts to counteract acidosis by treatment with base could possibly help to delay the onset of the disease. The intake of sulfite could support these efforts.

  9. Transthyretin-related familial amyloidotic polyneuropathy—Progress in Kumamoto, Japan (1967–2010)—

    PubMed Central

    ARAKI, Shukuro; ANDO, Yukio

    2010-01-01

    The authors reviewed contribution of Kumamoto University group to the progress of the studies on transthyretin (TTR)-related familial amyloidotic polyneuropathy (TTR-related FAP) for 42 years (from 1967 to 2009). Andrade (1952) first described a large group of patients with FAP in Portugal and Araki et al. (1967) in second discovered similar FAP patients in Arao, Kumamoto, Japan. Owing to progress in biochemical and molecular genetic analyses, FAP is now believed to occur worldwide. As of today, reports of about 100 different points of single or two mutations, or a deletion in the transthyretin (TTR) gene, have been published. The authors’ group has made pioneer works for study of FAP in the world. The focus on therapy in amylodosis will increase sharply as an impetus in near future, and successful treatments are expected. PMID:20689228

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

    ClinicalTrials.gov

    2016-10-06

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

  11. [Ocular involvement in familial amyloid polyneuropathy].

    PubMed

    Rousseau, A; Kaswin, G; Adams, D; Cauquil, C; Théaudin, M; Mincheva, Z; M'garrech, M; Labetoulle, M; Barreau, E

    2013-11-01

    Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adult onset, which is transmitted as an autosomal dominant trait. In addition to neurologic symptoms, FAP may be associated with weight loss, cardiac and renal failure and ocular complications. FAP is a devastating disease, causing death within 10years after the first symptoms. The TTR Val30Met mutation is the most common of more than 100 amyloidogenic mutations identified worldwide. Liver transplantation (LT) is currently the only treatment for preventing synthesis of the amyloidogenic variants of TTR. LT can halt progression of the neuropathy in up to 70% of cases and doubles the overall median survival of young Val30Met patients. Oral administration of tafamidis, which prevents deposition of mutated TTR, is now available to delay neurologic complications in early stages of the disease. Ocular manifestations of FAP are frequent and mainly include keratoconjunctivitis sicca, secondary glaucoma, vitreous deposits and pupillary abnormalities. Retinal and choroidal vascular abnormalities are more rare. Since ocular TTR is synthesized, at least in part, in the retinal pigment epithelium, LT does not influence the course of ocular involvement. The effects of tafamidis on the latter are still unknown. Because LT and symptomatic treatments greatly improve life expectancy of patients with FAP, ocular involvement is becoming a more frequent challenge to address. This review summarizes the pathophysiology, clinical findings and possible treatments of ocular manifestations of FAP. PMID:24144522

  12. 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.

  13. Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey.

    PubMed

    Durmuş-Tekçe, Hacer; Matur, Zeliha; Mert Atmaca, Murat; Poda, Mehves; Çakar, Arman; Hıdır Ulaş, Ümit; Oflazer-Serdaroğlu, Piraye; Deymeer, Feza; Parman, Yesim G

    2016-07-01

    Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. The mutant amyloidogenic transthyretin protein causes the systemic accumulation of amyloid fibrils that result in organ dysfunction. TTR-associated FAP is a progressive and fatal disease, if left untreated, and should be considered in the differential diagnosis of any person presenting with a progressive polyneuropathy, particularly with accompanying autonomic involvement. The clinical, electrophysiological, histopathological, and genetic characteristics of 17 patients from Turkey (5 female, 13 male) from nine families with polyneuropathy and mutations in TTR were evaluated. Sequence analysis of the TTR gene revealed five mutations (Val30Met, Glu89Gln, Gly53Glu, Glu54Gly and Gly47Glu). Mean age at disease onset was 40.4 ± 13.9 years (range 21-66 years). The most commonly reported initial complaint was paresthesia in the feet (asymmetric in three patients). Three patients (2 male) with the Glu89Gln mutation presented with carpal tunnel syndrome. Two patients with the Gly53Glu mutation showed episodes of dysarthria and hemiparesis, consistent with this genotype. Seven patients died during the period of follow-up as a result of systemic involvement. Our study suggests that a cohort of patients from Turkey with TTR-FAP exhibits clinical and genetic heterogeneity.

  14. Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy

    PubMed Central

    Chen, Hui; Zhou, Xueya; Wang, Jing; Wang, Xi; Liu, Liyang; Wu, Shinan; Li, Tengyan; Chen, Si; Yang, Jingwen; Sham, Pak Chung; Zhu, Guangming; Zhang, Xuegong; Wang, Binbin

    2016-01-01

    Inherited neuropathies show considerable heterogeneity in clinical manifestations and genetic etiologies, and are therefore often difficult to diagnose. Whole-exome sequencing (WES) has been widely adopted to make definite diagnosis of unclear conditions, with proven efficacy in optimizing patients’ management. In this study, a large Chinese kindred segregating autosomal dominant polyneuropathy with incomplete penetrance was ascertained through a patient who was initially diagnosed as Charcot-Marie-Tooth disease. To investigate the genetic cause, forty-six living family members were genotyped by SNP microarrays, and one confirmed patient was subject to WES. Through systematic computational prioritization, we identified a missense mutation c.G148T in TTR gene which results in a p.V50L substitution known to cause transthyretin-related familial amyloid polyneuropathy. Co-segregation analysis and clinical follow-up confirmed the new diagnosis, which suggested new therapeutic options to the patients and informed high risk family members. This study confirms WES as a powerful tool in translational medicine, and further demostrates the practical utility of gene prioritization in narrowing the scope of causative mutation. PMID:27212199

  15. Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study.

    PubMed Central

    Reilly, M M; Staunton, H; Harding, A E

    1995-01-01

    A cluster of cases of familial amyloid polyneuropathy has been described in Donegal, north west Ireland. Two patients from this region have been shown to have the ala 60 mutation in the transthyretin gene. Three kindreds with this mutation have also been described in the United States. Genealogical and haplotype studies indicate that all known patients with this mutation are related and are descended from a founder in north west Ireland. There is evidence for reduced penetrance of this disorder. A population based study showed that 1.1% of the population in this area in north west Ireland carry the mutation. This has implications in terms of diagnosis, genetic counselling, and treatment in the future. PMID:7608709

  16. Familial amyloid polyneuropathy: alanine-for-threonine substitution in the transthyretin (prealbumin) molecule.

    PubMed

    Koeppen, A H; Wallace, M R; Benson, M D; Altland, K

    1990-11-01

    A previously reported family with amyloid polyneuropathy (FAP) was reinvestigated to determine the type of mutation in the transthyretin (prealbumin) molecule. Transthyretin was isolated from amyloid-laden myocardium and serum, and tryptic peptides were resolved by high-performance liquid chromatography. Amino acid sequencing of an anomalous peptide revealed an alanine-for-threonine substitution corresponding to position No. 60 of the transthyretin monomer. Detection of the FAP gene in asymptomatic carriers was accomplished by hybrid isoelectric focusing of transthyretin in the presence of dithiothreitol and high concentrations of urea, and by Southern blotting of Pvull-digested leukocyte deoxyribonucleic acid. This type of FAP was found to be identical to the previously described Appalachian amyloid. Patients with FAP and their asymptomatic gene-carrying offspring had significantly reduced levels of serum transthyretin and retinol-binding protein.

  17. Update in the diagnosis and management of transthyretin familial amyloid polyneuropathy.

    PubMed

    Plante-Bordeneuve, Violaine

    2014-06-01

    Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a progressive neurodegenerative and systemic genetic disease first identified in Portugal, now reported worldwide. During the past few years our knowledge on the phenotypic presentation of this devastating condition has remarkably expanded including a wide variation in age of onset, different neuropathic patterns and patients presenting with isolated or predominant cardiac involvement. Liver transplantation, the first therapeutic approach, although invasive, has been shown to halt the progression of the neuropathy in young onset patients. Fortunately, several disease-modifying treatments are now available or in clinical development including TTR stabilizers and gene therapy. Their efficacy is higher if administered at the earliest disease stage. Thus, management of TTR-FAP patients is a moving field with need for early diagnosis using new diagnostic tools and new therapeutic options.

  18. Familial Amyloid Polyneuropathy Type IV (FINNISH) with Rapid Clinical Progression in an Iranian Woman: A Case Report

    PubMed Central

    Babaei-Ghazani, Arash; Eftekharsadat, Bina

    2016-01-01

    Familial amyloid polyneuropathy (FAP) type IV (FINNISH) is a rare clinical entity with challenging neuropathy and cosmetic deficits. Amyloidosis can affect peripheral sensory, motor, or autonomic nerves. Nerve lesions are induced by deposits of amyloid fibrils and treatment approaches for neuropathy are challenging. Involvement of cranial nerves and atrophy in facial muscles is a real concern in daily life of such patients. Currently, diagnosis of neuropathy can be made by electrodiagnostic studies and diagnosis of amyloidosis can be made by genetic testing or by detection of amyloid deposition in abdominal fat pad, rectal, or nerve biopsies. It is preferable to consider FAP as one of the differential diagnosis of a case presented with multiple cranial nerves symptoms. The authors present a case of familial amyloid polyneuropathy (FAP) type IV with severe involvement of multiple cranial nerves, peripheral limb neuropathy, and orthostatic hypotension. PMID:27217609

  19. Familial Amyloid Polyneuropathy Type IV (FINNISH) with Rapid Clinical Progression in an Iranian Woman: A Case Report.

    PubMed

    Babaei-Ghazani, Arash; Eftekharsadat, Bina

    2016-05-01

    Familial amyloid polyneuropathy (FAP) type IV (FINNISH) is a rare clinical entity with challenging neuropathy and cosmetic deficits. Amyloidosis can affect peripheral sensory, motor, or autonomic nerves. Nerve lesions are induced by deposits of amyloid fibrils and treatment approaches for neuropathy are challenging. Involvement of cranial nerves and atrophy in facial muscles is a real concern in daily life of such patients. Currently, diagnosis of neuropathy can be made by electrodiagnostic studies and diagnosis of amyloidosis can be made by genetic testing or by detection of amyloid deposition in abdominal fat pad, rectal, or nerve biopsies. It is preferable to consider FAP as one of the differential diagnosis of a case presented with multiple cranial nerves symptoms. The authors present a case of familial amyloid polyneuropathy (FAP) type IV with severe involvement of multiple cranial nerves, peripheral limb neuropathy, and orthostatic hypotension. PMID:27217609

  20. “Red‐flag” symptom clusters in transthyretin familial amyloid polyneuropathy

    PubMed Central

    González‐Duarte, Alejandra; Obici, Laura; Schmidt, Hartmut H.‐J.; Simoneau, Damien; Ong, Moh‐Lim; Amass, Leslie

    2016-01-01

    Abstract Transthyretin familial amyloid polyneuropathy (TTR‐FAP) is a rare, progressive, life‐threatening, hereditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin‐derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR‐FAP is frequently diagnosed late because the disease is difficult to recognize due to phenotypic heterogeneity. Based on published literature and expert opinion, symptom clusters suggesting TTR‐FAP are reviewed, and practical guidance to facilitate earlier diagnosis is provided. TTR‐FAP should be suspected if progressive peripheral sensory‐motor neuropathy is observed in combination with one or more of the following: family history of a neuropathy, autonomic dysfunction, cardiac hypertrophy, gastrointestinal problems, inexplicable weight loss, carpal tunnel syndrome, renal impairment, or ocular involvement. If TTR‐FAP is suspected, transthyretin genotyping, confirmation of amyloid in tissue biopsy, large‐ and small‐fiber assessment by nerve conduction studies and autonomic system evaluations, and cardiac testing should be performed. PMID:26663427

  1. Evaluation of Therapeutic Oligonucleotides for Familial Amyloid Polyneuropathy in Patient-Derived Hepatocyte-Like Cells

    PubMed Central

    Niemietz, Christoph J.; Sauer, Vanessa; Stella, Jacqueline; Fleischhauer, Lutz; Chandhok, Gursimran; Guttmann, Sarah; Avsar, Yesim; Guo, Shuling; Ackermann, Elizabeth J.; Gollob, Jared; Monia, Brett P.; Zibert, Andree; Schmidt, Hartmut H. -J.

    2016-01-01

    Familial amyloid polyneuropathy (FAP) is caused by mutations of the transthyretin (TTR) gene, predominantly expressed in the liver. Two compounds that knockdown TTR, comprising a small interfering RNA (siRNA; ALN-TTR-02) and an antisense oligonucleotide (ASO; IONIS-TTRRx), are currently being evaluated in clinical trials. Since primary hepatocytes from FAP patients are rarely available for molecular analysis and commercial tissue culture cells or animal models lack the patient-specific genetic background, this study uses primary cells derived from urine of FAP patients. Urine-derived cells were reprogrammed to induced pluripotent stem cells (iPSCs) with high efficiency. Hepatocyte-like cells (HLCs) showing typical hepatic marker expression were obtained from iPSCs of the FAP patients. TTR mRNA expression of FAP HLCs almost reached levels measured in human hepatocytes. To assess TTR knockdown, siTTR1 and TTR-ASO were introduced to HLCs. A significant downregulation (>80%) of TTR mRNA was induced in the HLCs by both oligonucleotides. TTR protein present in the cell culture supernatant of HLCs was similarly downregulated. Gene expression of other hepatic markers was not affected by the therapeutic oligonucleotides. Our data indicate that urine cells (UCs) after reprogramming and hepatic differentiation represent excellent primary human target cells to assess the efficacy and specificity of novel compounds. PMID:27584576

  2. 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

  3. Evaluation of Therapeutic Oligonucleotides for Familial Amyloid Polyneuropathy in Patient-Derived Hepatocyte-Like Cells

    PubMed Central

    Niemietz, Christoph J.; Sauer, Vanessa; Stella, Jacqueline; Fleischhauer, Lutz; Chandhok, Gursimran; Guttmann, Sarah; Avsar, Yesim; Guo, Shuling; Ackermann, Elizabeth J.; Gollob, Jared; Monia, Brett P.; Zibert, Andree; Schmidt, Hartmut H. -J.

    2016-01-01

    Familial amyloid polyneuropathy (FAP) is caused by mutations of the transthyretin (TTR) gene, predominantly expressed in the liver. Two compounds that knockdown TTR, comprising a small interfering RNA (siRNA; ALN-TTR-02) and an antisense oligonucleotide (ASO; IONIS-TTRRx), are currently being evaluated in clinical trials. Since primary hepatocytes from FAP patients are rarely available for molecular analysis and commercial tissue culture cells or animal models lack the patient-specific genetic background, this study uses primary cells derived from urine of FAP patients. Urine-derived cells were reprogrammed to induced pluripotent stem cells (iPSCs) with high efficiency. Hepatocyte-like cells (HLCs) showing typical hepatic marker expression were obtained from iPSCs of the FAP patients. TTR mRNA expression of FAP HLCs almost reached levels measured in human hepatocytes. To assess TTR knockdown, siTTR1 and TTR-ASO were introduced to HLCs. A significant downregulation (>80%) of TTR mRNA was induced in the HLCs by both oligonucleotides. TTR protein present in the cell culture supernatant of HLCs was similarly downregulated. Gene expression of other hepatic markers was not affected by the therapeutic oligonucleotides. Our data indicate that urine cells (UCs) after reprogramming and hepatic differentiation represent excellent primary human target cells to assess the efficacy and specificity of novel compounds. PMID:27584576

  4. 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

  5. Evaluation of Therapeutic Oligonucleotides for Familial Amyloid Polyneuropathy in Patient-Derived Hepatocyte-Like Cells.

    PubMed

    Niemietz, Christoph J; Sauer, Vanessa; Stella, Jacqueline; Fleischhauer, Lutz; Chandhok, Gursimran; Guttmann, Sarah; Avsar, Yesim; Guo, Shuling; Ackermann, Elizabeth J; Gollob, Jared; Monia, Brett P; Zibert, Andree; Schmidt, Hartmut H-J

    2016-01-01

    Familial amyloid polyneuropathy (FAP) is caused by mutations of the transthyretin (TTR) gene, predominantly expressed in the liver. Two compounds that knockdown TTR, comprising a small interfering RNA (siRNA; ALN-TTR-02) and an antisense oligonucleotide (ASO; IONIS-TTRRx), are currently being evaluated in clinical trials. Since primary hepatocytes from FAP patients are rarely available for molecular analysis and commercial tissue culture cells or animal models lack the patient-specific genetic background, this study uses primary cells derived from urine of FAP patients. Urine-derived cells were reprogrammed to induced pluripotent stem cells (iPSCs) with high efficiency. Hepatocyte-like cells (HLCs) showing typical hepatic marker expression were obtained from iPSCs of the FAP patients. TTR mRNA expression of FAP HLCs almost reached levels measured in human hepatocytes. To assess TTR knockdown, siTTR1 and TTR-ASO were introduced to HLCs. A significant downregulation (>80%) of TTR mRNA was induced in the HLCs by both oligonucleotides. TTR protein present in the cell culture supernatant of HLCs was similarly downregulated. Gene expression of other hepatic markers was not affected by the therapeutic oligonucleotides. Our data indicate that urine cells (UCs) after reprogramming and hepatic differentiation represent excellent primary human target cells to assess the efficacy and specificity of novel compounds. PMID:27584576

  6. The Temporal Profiles of Changes in Nerve Excitability Indices in Familial Amyloid Polyneuropathy

    PubMed Central

    Lai, Hsing-Jung; Chiang, Ya-Wen; Yang, Chih-Chao; Hsieh, Sung-Tsang; Chao, Chi-Chao

    2015-01-01

    Familial amyloid polyneuropathy (FAP) caused by a mutation in transthyretin (TTR) gene is an autosomal dominant inherited disorder. The aim of this study is to explore the pathophysiological mechanism of FAP. We prospectively recruited 12 pauci-symptomatic carriers, 18 patients who harbor a TTR mutation, p.A97S, and two-age matched control groups. Data of nerve excitability test (NET) from ulnar motor and sensory axons were collected.NET study of ulnar motor axons of patients shows increased threshold and rheobase, reduced threshold elevation during hyperpolarizing threshold electrotonus (TE), and increased refractoriness. In sensory nerve studies, there are increased threshold reduction in depolarizing TE, lower slope of recovery and delayed time to overshoot after hyperpolarizing TE, increased refractoriness and superexcitability in recovery cycle. NET profiles obtained from the ulnar nerve of carriers show the increase of threshold and rheobase, whereas no significant threshold changes in hyperpolarizing TE and superexcitability. The regression models demonstrate that the increase of refractoriness and prolonged relative refractory period are correlated to the disease progression from carriers to patients. The marked increase of refractoriness at short-width stimulus suggests a defect in sodium current which may represent an early, pre-symptomatic pathophysiological change in TTR-FAP. Focal disruption of basal lamina and myelin may further increase the internodal capacity, manifested by the lower slope of recovery and delayed time to overshoot after hyperpolarization TE as well as the increase of superexcitability. NET could therefore make a pragmatic tool for monitoring disease progress from the very early stage of TTR-FAP. PMID:26529114

  7. 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.

  8. Chronic inflammatory demyelinating polyneuropathy

    MedlinePlus

    Polyneuropathy - chronic inflammatory; CIDP; Chronic inflammatory polyneuropathy; Guillain-Barré - CIDP ... CIDP is one cause of damage to nerves outside the brain or spinal cord ( peripheral neuropathy ). Polyneuropathy ...

  9. A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy.

    PubMed Central

    Yamamoto, K; Ikeda, S; Hanyu, N; Takeda, S; Yanagisawa, N

    1998-01-01

    In type I familial amyloid polyneuropathy (FAP) caused by a variant Met30-transthyretin (TTR), genetic anticipation has been reported. To determine whether anticipation of the disease is a true biological phenomenon or the result of ascertainment bias, we compared age at onset of the affected child with that of the affected parent in 68 parent-child pairs (including data on assumed age at onset and on asymptomatic obligate heterozygotes and parents at obligate 50% risk) in 15 families. Excluding the parent-child pairs involving the proband and "bilineal pairs", onset occurred earlier in the child than in the transmitting parent in 60 out of 68 "unilineal pairs". After correction for ascertainment bias resulting from incomplete penetrance and reduced biological fitness in early onset patients, the number of anticipation pairs (60 pairs) was still significantly larger than that of non-anticipation pairs (29.7 pairs) (p < 0.05). When the children were sons, the difference in age at onset was significantly greater in the mother-son pairs than in the father-son pairs (p = 0.023). Although not all ascertainment biases could be eliminated, these data show strong evidence that anticipation in the transmission of Met30-TTR FAP is a true biological phenomenon. PMID:9475090

  10. A novel transthyretin variant p.H110D (H90D) as a cause of familial amyloid polyneuropathy in a large Irish kindred.

    PubMed

    Jimenez-Zepeda, Victor H; Bahlis, Nizar J; Gilbertson, Janet; Rendell, Nigel; Porcari, Riccardo; Lachmann, Helen J; Gillmore, Julian D; Hawkins, Philip N; Rowczenio, Dorota M

    2015-03-01

    Hereditary transthyretin (ATTR) amyloidosis is caused by inheritance of an abnormal TTR gene in an autosomal dominant fashion. In its native state, TTR is a homotetramer consisting of four identical polypeptides. Mutations in the TTR gene contribute to destabilization and dissociation of the TTR tetramer, enabling abnormally folded monomers to self-assemble as amyloid fibrils. Currently, over 120 TTR variants have been described, with varying geographic distributions, degrees of amyloidogenicity and organ involvement. We report here a large Irish family with familial amyloid polyneuropathy (FAP), consisting of multiple affected generations, caused by a novel TTR mutation; p.H110D (H90D). The demonstration, by immunohistochemistry and laser micro dissection-mass spectrometry (LMD/MS) that the amyloid fibrils were composed of TTR, in conjunction with a typical FAP phenotype, indicates that the novel TTR mutation was the cause of amyloidosis. We used a molecular visualization tool PyMOL to analyze the effect of the p.H110D (H90D) replacement on the stability of the TTR molecule. Our data suggest that the loss of two hydrogen bonds and the presence of an additional negative charge in the core of a cluster of acidic residues significantly perturb the tetramer stability and likely contribute to the pathogenic role of this variant. PMID:25430583

  11. 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

  12. [Recurrent intraparenchimal haemorrhages in a patient with cerebral amyloidotic angiopathy: description of one autopsy case].

    PubMed

    Gallo, C; Orlassino, R; Vineis, C

    2006-02-01

    Cerebral amyloidotic angiopathy represents the most frequent cause of lobar haematoma in young patients and represents 5-10% of the non-traumatic cerebral haemorrhages. In the present work, we describe one autoptic case of recurrent cerebral haemorrhages in a 58-year-old woman. Macroscopically in the brain multiple haemorragic areas were present in the right frontal pole, right frontal and temporo-parietal lobes with homolateral ventricular inundation. The histological, histochemical, immunohistochemical, ultrastructural and biomolecular investigations confirmed the presence of amyloid deposits in the middle-size and little-size cerebral arteries. We report, moreover, a novel mutation (Leu705Val) within the Abeta sequence of a AbetaPP in a family with autosomal dominant, recurrent intracerebral hemorrhages beginning in the sixth decade of life.

  13. Cryptogenic sensory polyneuropathy.

    PubMed

    Pasnoor, Mamatha; Dimachkie, Mazen M; Barohn, Richard J

    2013-05-01

    Chronic sensory or sensorimotor polyneuropathy is a common cause for referral to neurologists. Despite extensive diagnostic testing, up to one-third of these patients remain without a known cause, and are referred to as having cryptogenic sensory peripheral neuropathy. Symptoms progress slowly. On examination, there may be additional mild toe flexion and extension weakness. Electrophysiologic testing and histology reveals axonal neuropathy. Prognosis is usually favorable, as most patients maintain independent ambulation. Besides patient education and reassurance, management is focused on pharmacotherapy for neuropathic pain and physical therapy for balance training, and, occasionally, assistive devices.

  14. CRYPTOGENIC SENSORY POLYNEUROPATHY

    PubMed Central

    Pasnoor, Mamatha; Dimachkie, Mazen M.; Barohn, Richard J.

    2014-01-01

    Chronic sensory or sensorimotor polyneuropathy is a common cause for referral to neurologists. Despite extensive diagnostic testing, up to one-third of these patients remain without a known cause. They are referred to as having cryptogenic sensory peripheral neuropathy (CSPN). The age of onset is variable but usually in the sixth to seventh decade of life, affecting men and women equally. CSPN symptoms progress slowly, most patients present with distal leg paresthesias or pain that progressed over years to involve the hands. On examination, there may be additional mild toe flexion and extension weakness. Electrophysiologic testing and histology reveals axonal neuropathy. Prognosis is usually favorable as most patients maintain independent ambulation. Besides patient education and reassurance, management is focused on pharmacotherapy of neuropathic pain (see Treatment of Painful Peripheral Neuropathy chapter) and physical therapy for balance training and occasionally assistive devices. PMID:23642719

  15. Vincristine induced cranial polyneuropathy.

    PubMed

    Bay, Ali; Yilmaz, Cahide; Yilmaz, Nebi; Oner, Ahmet Faik

    2006-06-01

    We describe a 5-year-old girl showed recovery of vincristine induced cranial polyneuropathy with pyridoxine and pyridostigmine treatment. A 5-year-old girl was diagnosed preB cell Acute Lymphoblastic Leukemia (ALL). She received chemotherapy according to the previously described modified St. Jude total therapy studies XIII. Five days after the fourth dose of vincristine, she presented with bilateral ptosis. Neurological examination revealed bilateral ptosis, and complete external opthalmoplegia with normal pupillary and corneal reflexes. She received 3.8 mg cumulative dose of vincristin before development of ptosis. A neuroprotective and neuroregenerative treatment attempt with pyridoxine and pyridostigmine was initiated. The bilateral ptosis markedly improved after 7 days of pyridoxine and pyridostigmine treatment and completely resolved after two weeks. The both agents were given for 3 weeks and were well tolerated without any side effects. During the follow up period we did not observe residue or recurrence of the ptosis.

  16. Pathophysiology of autoimmune polyneuropathies.

    PubMed

    Dalakas, Marinos C

    2013-06-01

    The most common autoimmune neuropathies include the acute inflammatory polyneuropathy [the Guillain-Barré Syndrome(s)]; chronic inflammatory demyelinating polyneuropathy (CIDP), multifocal motor neuropathy (MMN) and IgM anti-MAG-antibody mediated paraproteinemic neuropathy. These neuropathies occur when immunologic tolerance to peripheral nerve components (myelin, Schwann cell, axon, and motor or ganglionic neurons) is lost. Based on the immunopathologic similarities with experimental allergic neuritis induced after immunization with nerve proteins, disease transfer experiments with the patients' serum or with intraneural injections, and immunocytochemical studies on the patients' nerves, it appears that both cellular and humoral factors, either independently or in concert with each other, play a role in the cause of these neuropathies. Although in some of them there is direct evidence for autoimmune reactivity mediated by specific antibodies or autoreactive T lymphocytes, in others the underlying immune-mediated mechanisms have not been fully elucidated, in spite of good response to immunotherapies. The review highlights the factors associated with breaking the T-cell tolerance, the T-cell activation and costimulatory molecules, the immunoregulatory T-cells and relevant cytokines and the antibodies against peripheral nerve glycolipids or glycoproteins that seem to be of pathogenic relevance. Antigens in the nodal, paranodal and juxtaparanodal regions are discussed as potentially critical targets in explaining conduction failure and rapid recovery. Based on the immunopathologic network believed to play a fundamental role in the pathogenesis of these neuropathies, future therapeutic directions are highlighted using new biological agents against T-cells, cytokines, B-cells, transmigration and transduction molecules.

  17. Diabetic polyneuropathy. Axonal or demyelinating?

    PubMed

    Valls-Canals, J; Povedano, M; Montero, J; Pradas, J

    2002-01-01

    Diabetic polyneuropathy is the most common subgroup of diabetic neuropathy, but its nature is controversial as it might be demyelinating and/or axonal. We have tried to determine whether diabetic polyneuropathy is electrophysiologically axonal, demyelinating, or both. We have studied the sural and peroneal nerves and the electromyographies of leg muscles in 50 healthy subjects (average age 67.2 years, range 45 to 84 years), in 50 diabetic patients (average age 66.34 years, range 44 to 82 years) showing no symptoms and/or signs of polyneuropathy (DP1), and in 50 diabetic patients (average age 67.10 years, range 49 to 87 years) showing symptoms and/or signs of polyneuropathy (DP2). The amplitude (AMP) of sural and peroneal nerves in healthy and DP1 subjects was similar. Conduction velocity (CV) of sural and peroneal nerves was slower in DP1 subjects than in healthy subjects. DP2 subjects showed AMP and CV values significantly lower than those in DP1 subjects, and signs of acute and chronic denervation/reinervation were found in the leg muscles. We believe that this result indicates that diabetic patients have two types of polyneuropathies: a demyelinating disease that could appear in diabetic patients with and without symptoms of polyneuropathy, and an axonal loss that is responsible for most of the symptoms.

  18. Subclinical Inflammation and Diabetic Polyneuropathy

    PubMed Central

    Herder, Christian; Lankisch, Mark; Ziegler, Dan; Rathmann, Wolfgang; Koenig, Wolfgang; Illig, Thomas; Döring, Angela; Thorand, Barbara; Holle, Rolf; Giani, Guido; Martin, Stephan; Meisinger, Christa

    2009-01-01

    OBJECTIVE Subclinical inflammation represents a risk factor of type 2 diabetes and several diabetes complications, but data on diabetic neuropathies are scarce. Therefore, we investigated whether circulating concentrations of acute-phase proteins, cytokines, and chemokines differ among diabetic patients with or without diabetic polyneuropathy. RESEARCH DESIGN AND METHODS We measured 10 markers of subclinical inflammation in 227 type 2 diabetic patients with diabetic polyneuropathy who participated in the population-based MONICA/KORA Survey F3 (2004–2005; Augsburg, Germany). Diabetic polyneuropathy was diagnosed using the Michigan Neuropathy Screening Instrument (MNSI). RESULTS After adjustment for multiple confounders, high levels of C-reactive protein and interleukin (IL)-6 were most consistently associated with diabetic polyneuropathy, high MNSI score, and specific neuropathic deficits, whereas some inverse associations were seen for IL-18. CONCLUSIONS This study shows that subclinical inflammation is associated with diabetic polyneuropathy and neuropathic impairments. This association appears rather specific because only certain immune mediators and impairments are involved. PMID:19131463

  19. 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

  20. [Destructive cervical amyloidotic spondyloarthropathy in patients undergoing periodic dialysis. Personal experience].

    PubMed

    Madia, G; Mughetti, M; Muratore, F; Mignani, R; Leurini, R; Boccadoro, R; Denicolò, M

    1990-12-01

    The accumulation of amyloid (beta 2-microglobulin) in several organs and tissues of patients in chronic dialysis is a recent pathologic condition. A wide range of cases, supported by specific tests for amyloid on bioptic and autoptic samples, showed a radiographic semiology of osteostructural alterations in various areas which allows amyloidotic condition of bone to be diagnosed with high reliability. In 11 of 62 patients (17.74%) we observed destructive cervical amyloidotic spondyloarthropathy (DCAS). The radiological patterns common to all patients were subchondral sclerosis, erosions of vertebral body plates, widening/narrowing of intervertebral spaces, no/poor osteophytosis. Over-hanging was present in 54.5% of cases, and deformation of vertebral bodies in 45.4%. CT was useful in improving the definition of the various alterations, and in locating others, such as cavitations in vertebral bodies and involvement of apophyseal joints. Constant factors were the association with extravertebral osseous amyloidosis, dyalitic age over 60 months, and the use of Cuprophan membranes for dialysis. The frequent (72.72%) association with alterations involving the lumbar rachis (subchondral sclerosis, erosions and geodes) was suggestive of amyloidotic condition.

  1. Chronic polyneuropathy and Lyme disease.

    PubMed

    Mygland, A; Skarpaas, T; Ljøstad, U

    2006-11-01

    Infection of the peripheral nervous system with Borrelia burgdorferi can present as a cranial neuropathy or radiculopathy with cerebrospinal fluid (CSF) pleocytosis and intrathecal antibody production against B. burgdorferi, or as an asymmetric peripheral neuropathy with acrodermatitis chronica atrophicans (ACA) and normal CSF findings. According to North American studies, it can also present as a symmetric chronic polyneuropathy without ACA or other Lyme manifestations. Our purpose was to investigate the prevalence of B. burgdorferi antibodies in patients presenting with isolated chronic polyneuropathy (PN) in a European region with high incidence of Lyme disease. Sera from 209 PN patients and 247 healthy blood donors from Vest-Agder County, Norway, were examined. Borrelia burgdorferi antibodies were detected in 43 (21%) PN patients and in 45 (18%) healthy blood donors (P = 0.553). The prevalence of B. burgdorferi antibodies was similar (P = 0.311) in cryptogenic PN (24/102, 24%) and PNs of identified etiologies (19/107, 18%). PN patients with B. burgdorferi antibodies had normal spinal fluid white cell count and they did not differ clinically or electrophysiologically from PN patients without antibodies. None of 20 antibody-positive PN patients responded to antimicrobial treatment. The study shows that, in Europe, chronic distal PN without ACA or other Lyme manifestations is very rarely caused by a B. burgdorferi infection.

  2. Distal Peripheral Polyneuropathy in a Great Dane

    PubMed Central

    Henricks, Paul M.; Steiss, Jan; Petterson, Joanne D.

    1987-01-01

    A spayed female five year old Great Dane dog was diagnosed as having a chronic, progressive, symmetrical distal polyneuropathy and concurrent hypothyroidism. Axonal degeneration and segmental demyelination were evident in teased nerve fiber preparations. Clinical signs included hindlimb weakness and muscle atrophy of the head and distal limbs. Diagnosis was based on clinical, electrophysiological, and nerve and muscle biopsy findings. Thyroxine supplementation for one month was of no benefit. The etiology of the polyneuropathy was not established but several causes were considered. The extent of demyelination in our case was of greater magnitude than described in a previous report of a similar idiopathic distal symmetrical polyneuropathy in a Great Dane. PMID:17422753

  3. [The problem of polyneuropathy in methaqualone medication].

    PubMed

    Kmietzyk, H J; Schröter, P; Ernst, K

    1977-05-01

    Thirteen years after the introduction of methaqualone into therapy, investigators (namely, Finke, Spiegelberg, and Suchenwirth), by reference to individual cases, pointed out the possible development of polyneuropathies. This has not so far been confirmed despite worldwide use of the drug. Experiments on rats, which were conducted by the present authors, show a statistically significant decrease in maximum motor conduction speed, which is believed to be functional disorder. Clinical symptoms or nervous structural variations in the sense of polyneuropathy could not be observed.

  4. Neuromuscular ultrasound findings in polyneuropathy secondary to disulfiram.

    PubMed

    Stone, Sarah L; Cartwright, Michael S; Panea, Oana R; Vann, Ryan C; Magruder, John L; Walker, Francis O

    2014-12-01

    Disulfiram toxicity can cause multiple neurologic problems, including a reversible distal sensorimotor axonal polyneuropathy. Although electrodiagnosis and biopsy results have been described in the diagnosis and management of patients with disulfiram associated polyneuropathy, neuromuscular ultrasound findings have not been reported. The authors present a case of electrodiagnostically confirmed axonal polyneuropathy with relative sural sparing secondary to disulfiram and describe the neuromuscular ultrasound findings in this individual. Ultrasound demonstrated distal enlargement with slight side-to-side asymmetry and normal proximal cross-sectional area in the lower extremity nerves. Neuromuscular ultrasound is another diagnostic modality that may be used to assist in the diagnosis of patients with polyneuropathy secondary to disulfiram.

  5. Polyneuropathy induced by carbon disulphide in viscose rayon workers.

    PubMed Central

    Chu, C C; Huang, C C; Chen, R S; Shih, T S

    1995-01-01

    OBJECTIVES--To understand the prevalence of polyneuropathy and correlations among the clinical manifestations, electrophysiological findings, and degree of exposure to carbon disulphide (CS2) in workers who were exposed to variable concentrations of CS2 in a viscose rayon factory. METHODS--All the 163 workers received a detailed physical and neurological evaluation. Fixed point air samples were analysed for CS2. Nerve conduction velocity was studied in 26 workers with symptoms similar to neuropathy. RESULTS--Nine workers (53%) with overt polyneuropathy from the fibre cutting department and 19 workers (13%) with oligosymptoms similar to polyneuropathy from various jobs were noted. The fixed point air concentrations of CS2 were 150-300 ppm in the cutting areas and 15 to 100 ppm in the spinning areas. The estimated eight hour time weighted averages in the fibre cutting areas were 40-67 ppm. The occurrence of polyneuropathy was generally correlated with the degree of exposure to CS2. Nerve conduction velocities (NCVs) were significantly different in the overt polyneuropathy and subclinical polyneuropathy groups from the normal controls. The sensitive indicators for CS2 polyneuropathy were distal latency, motor NCV, and amplitude of sensory nerve action potentials in sensory NCVs. CONCLUSION--The outbreak of polyneuropathy was attributed to higher concentrations of CS2 in fibre cutting areas. Even in other jobs with relatively lower concentrations of CS2, the hazard of subclinical polyneuropathy cannot be overlooked. PMID:7627318

  6. 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

  7. Critical illness polyneuropathy: a case report.

    PubMed

    Celik, Canan; Ucan, Halil; Alemdaroglu, Ebru; Oktay, Fugen

    2011-01-01

    Critical illness polyneuropathy (CIP) is defined as a common complication of critically ilness patients who were admitted to the intensive care unit due to sepsis, multiple trauma and/or multi-organ failure. We aimed to present a patient who was diagnosed as CIP. He was admitted to our outpatient clinic due to weakness and pain in his lower extremities. He had been followed in an intensive care unit due to suicid five months ago. There were symmetrically and predominantly muscle weakness, sensory impairment, absence of deep tendon reflexes in his lower extremities. Electrophysiological evaluation demonstrated motor and sensory axonal distal polyneuropathy predominantly in lower extremities. At follow up, he had high fever, and elevated acute phase responses. Therefore source of infection was investigated and was suspected to a diagnosis of infective endocarditis. He was discharged to be hospitalized in cardiology clinic. With this case, we think that physiatrists should take into consideration a diagnosis of critical illness polyneuropathy in patients with symmetric motor weakness. In CIP, muscle weakness, sensory loss, neuropathic pain, and autonomic problems lengthened the rehabilitation period. Due to a diagnosis of infective endocarditis in our case, we point out that source of infection should be carefully investigated if there is acute phase responses in CIP patients even if during rehabilitation period.

  8. 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

  9. 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

  10. n-Hexane polyneuropathy in a ball-manufacturing factory

    SciTech Connect

    Huang, C.C.; Shih, T.S.; Cheng, S.Y.; Chen, S.S.; Tchen, P.H. )

    1991-02-01

    Five overt and two occult cases of n-hexane polyneuropathy occurred in a ball-manufacturing factory in Taiwan. The severity of polyneuropathy was directly related to the index of n-hexane exposure that occurred during the processes of cement coating and nylon fiber winding in a poorly ventilated room. The n-hexane concentrations over eight hours of personal sampling of the air of the cement coating and nylon fiber winding areas were 109 ppm and 86 ppm, respectively. After installation of a new factory ventilation system, these seven patients recovered completely, and there were no new cases in the two-year follow-up.

  11. Charcot-Marie-Tooth (CMT) disease 1A with superimposed inflammatory polyneuropathy in children.

    PubMed

    Desurkar, A; Lin, J-P; Mills, K; Al-Sarraj, S; Jan, W; Jungbluth, H; Wraige, E

    2009-04-01

    Charcot-Marie-Tooth (CMT) disease is genetically heterogeneous and subdivided into demyelinating (CMT 1) and axonal (CMT 2) types based on neurophysiology findings. CMT1A, the commonest form associated with duplication of the PMP22 segment on chromosome 17p, often arises in childhood but is generally a slowly progressive disease. We report 2 children presenting with clinical features of an acute inflammatory demyelinating polyneuropathy (AIDP) who were subsequently diagnosed with underlying CMT1A. Both children had neurophysiology and histopathology features consistent with CMT1. Immunoglobulin treatment was initiated considering the evidence of superimposed inflammation and appeared to modify disease progression. Our findings indicate that CMT1A predisposes to a superimposed inflammatory neuropathy. Recognition of this association is difficult, particularly in children without clear family history, but of great importance as immunomodulatory treatment may improve outcome. In addition, we postulate that an underlying genetic polyneuropathy should be suspected if the recovery from AIDP is slower than expected, or incomplete. PMID:19809938

  12. 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

  13. Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.

    PubMed

    Plante-Bordeneuve, Violaine; Said, Gérard

    2002-11-01

    Dejerine-Sottas disease (DSD) was originally described as a hypertrophic polyneuropathy characterized by onset in infancy or early childhood in patients born to unaffected parents. The clinical features included distal sensory changes with ataxia; pes cavus, at times with kyphoscoliosis; motor deficit and atrophy predominating in the distal lower limbs and progressing toward the proximal limbs following a length-dependent pattern; palpable nerve hypertrophy; and Argyll-Robertson pupils. The morphological hallmark was the extensive nerve and root hypertrophy associated with demyelination-remyelination of surviving, originally myelinated axons and profuse Schwann-cell proliferation forming onion bulbs. Wide variations in clinical manifestations of chronic demyelinating polyneuropathies of early onset in children born to unaffected parents have now been reported, with only some of the characteristics required in the original study, and at least seven genes encoding the myelin proteins P0, PMP22, the transcriptional factor EGR2, and others have been implicated. Thus, DSD is now a component of the hereditary demyelinating polyneuropathies of infancy that also include subsets of the recently individualized CMT4 neuropathies. The presumed recessive transmission of patients with DSD should be confirmed by molecular genetic analysis, which is still negative in a significant proportion of patients. The nerve biopsy can be useful in patients in whom genealogical or DNA abnormalities in favor of a genetic disorder are missing, because in a few patients with a progressive or relapsing course the diagnosis of early-onset chronic inflammatory demyelinating polyneuropathy must be considered. PMID:12402282

  14. [A MODERN APPROACH TO THE TREATMENT OF DIABETIC POLYNEUROPATHY].

    PubMed

    Romanova, I P; Kazakov, A V; Oleynikova, S P; Chernyavskaya, I V; Dorosh, E G

    2015-01-01

    In this paper, the authors conducted research on the application of a new drug for the treatment of diabetic polyneuropathy in patients with diabetes mellitus type 1 and 2. Established an effective influence on the hemodynamic, metabolic, biochemical parameters, improved sensory-motor conduction in nerve fibers. Recommended for widespread use in patients with diabetes mellitus. PMID:27491158

  15. Acute Onset Sensory Polyneuropathy Due to Metronidazole Therapy.

    PubMed

    Singh, Jitendra; Atam, Virendra; Dinkar, Anju

    2015-09-01

    Metronidazole is associated with numerous neurologic complications, including peripheral neuropathy particularly in patients; those are on high doses of metronidazole for prolonged period. We hereby report a case of liver abscess that developed sensory polyneuropathy following 11 days of metronidazole therapy at low cumulative dose. PMID:27608880

  16. Nerve excitability changes in critical illness polyneuropathy.

    PubMed

    Z'Graggen, W J; Lin, C S Y; Howard, R S; Beale, R J; Bostock, H

    2006-09-01

    Patients in intensive care units frequently suffer muscle weakness and atrophy due to critical illness polyneuropathy (CIP), an axonal neuropathy associated with systemic inflammatory response syndrome and multiple organ failure. CIP is a frequent and serious complication of intensive care that delays weaning from mechanical ventilation and increases mortality. The pathogenesis of CIP is not well understood and no specific therapy is available. The aim of this project was to use nerve excitability testing to investigate the changes in axonal membrane properties occurring in CIP. Ten patients (aged 37-76 years; 7 males, 3 females) were studied with electrophysiologically proven CIP. The median nerve was stimulated at the wrist and compound action potentials were recorded from abductor pollicis brevis muscle. Strength-duration time constant, threshold electrotonus, current-threshold relationship and recovery cycle (refractoriness, superexcitability and late subexcitability) were recorded using a recently described protocol. In eight patients a follow-up investigation was performed. All patients underwent clinical examination and laboratory investigations. Compared with age-matched normal controls (20 subjects; aged 38-79 years; 7 males, 13 females), CIP patients exhibited reduced superexcitability at 7 ms, from -22.3 +/- 1.6% to -7.6 +/- 3.1% (mean +/- SE, P approximately 0.0001) and increased accommodation to depolarizing (P < 0.01) and hyperpolarizing currents (P < 0.01), indicating membrane depolarization. Superexcitability was reduced both in patients with renal failure and without renal failure. In the former, superexcitability correlated with serum potassium (R = 0.88), and late subexcitability was also reduced (as also occurs owing to hyperkalaemia in patients with chronic renal failure). In patients without renal failure, late subexcitability was normal, and the signs of membrane depolarization correlated with raised serum bicarbonate and base excess

  17. Polyneuropathy due to acute arsenic intoxication: biopsy studies.

    PubMed

    Goebel, H H; Schmidt, P F; Bohl, J; Tettenborn, B; Krämer, G; Gutmann, L

    1990-03-01

    A 41-year-old vintner attempting suicide ingested 8-9 g of arsenic and developed a symmetric polyneuropathy with acute Wallerian degeneration of myelinated fibers. Under treatment with modified British Anti-Lewisite (BAL; "Dimaval") his polyneuropathy slowly, but incompletely, subsided over three years at which time another sural nerve biopsy specimen showed regenerative proliferation of myelinated and unmyelinated axons but no signs of Wallerian degeneration. By laser microprobe mass analysis (LAMMA) arsenic was located in the first biopsied sural nerve specimen but not in the second specimen. These findings demonstrated: 1) arsenic induced serial morphometric and electron microscopic findings of nerve fiber degeneration and regeneration, 2) documentation of arsenic within myelinated nerve fibers, and 3) the usefulness of the LAMMA technique as a diagnostic procedure in this context.

  18. Self-inflicted tourniquet paralysis mimicking acute demyelinating polyneuropathy.

    PubMed

    Storm, S; Weiss, M D

    2003-05-01

    Tourniquet paralysis is an uncommon complication of surgery, and self-inflicted tourniquet paralysis has never been documented to our knowledge. We report a patient with bilateral self-induced tourniquet paralysis of the lower extremities, whose symptoms were initially attributed to an acute demyelinating sensorimotor polyneuropathy based on clinical presentation and electrodiagnostic study. After investigations failed to reveal a cause, he was found to have placed tourniquets on his legs because of a rare obsession with limb amputation known as apotemnophilia. Significant spontaneous partial resolution of clinical symptoms was noted after 6 weeks. Electrophysiologic evidence of segmental demyelination of multiple motor nerves localized to the same region may help to distinguish this condition from other forms of acute demyelinating polyneuropathy.

  19. Rapidly Progressive Polyneuropathy in a Patient With Monoclonal Gammopathy

    PubMed Central

    Wang, Chen; Guan, Yu-Zhou; Cai, Qian-Qian; Su, Wei; Zhou, Dao-Bin; Li, Jian

    2016-01-01

    Abstract Neuropathy, the dominant clinical feature of POEMS syndrome, is typically distal, symmetric, and slowly progressive with demyelinating changes. After a gradual proximal spread, it usually results in severe muscle weakness and functional disabilities. Cases characterized by acute onset polyneuropathy are rarely described. In the present report, we describe a 32-year-old male diagnosed as POEMS syndrome, but presenting with a rapidly evolving polyneuropathy. Detailed clinical, electrophysiological, and genetic studies revealed a coexisting underdiagnosed inherited axonal neuropathy, namely Charcot-Marie-Tooth disease 2A2. The patient received lenalidomide-based chemotherapy and consolidated by autologous stem cell transplantation for his POEMS syndrome, which improved the neurological disability. In most conditions, only 1 cause is responsible for a patient's polyneuropathy. However, an insidious inherited neuropathy can be overlooked, when an acquired condition is present. The case illustrated here, to the best of our knowledge, is the first one with coexistent axonal type Charcot-Marie-Tooth disease and POEMS syndrome, suggesting that an unrecognized inherited neuropathy may change the disease course of a further acquired neuropathy. PMID:27100445

  20. Does Prediabetes Cause Small Fiber Sensory Polyneuropathy? Does it Matter?

    PubMed Central

    Kassardjian, C.D.; Dyck, P.J.B.; Davies, J.L.; Carter, Rickey E.; Dyck, P.J.

    2015-01-01

    Background and Objectives The association between prediabetes and distal polyneuropathy (DPN) remains controversial. Here we test whether the prevalence of small fiber sensory distal polyneuropathy is increased in prediabetes. Methods Prospectively recruited cohorts of healthy subjects and those with prediabetes from Olmsted County, Minnesota, were assessed for positive neuropathic sensory symptoms, or pain symptoms characteristic of small fiber sensory DPN. Hyperalgesia and hypoalgesia were assessed by “smart” quantitative sensation testing (QST). The prevalence of symptoms and QST abnormalities were compared among the groups. Results There was no significant increase in the prevalence of positive neuropathic sensory or pain symptoms, nor of hyper- or hypoalgesia in the prediabetes group. There was an increased prevalence of hypoalgesia of the foot only in newly diagnosed diabetes. Conclusions Based on positive sensory and pain symptoms and QSTs, we did not find an increase in small fiber sensory DPN in prediabetes. Recognizing that obesity and diabetes mellitus are implicated in macro- and microvessel complications, physicians should encourage healthy living and weight loss in patients with prediabetes. In medical practice, alternate causes should be excluded before concluding that small fiber sensory distal neuropathy is secondary to prediabetes. PMID:26049659

  1. The spectrum of polyneuropathies in patients infected with HIV.

    PubMed Central

    Leger, J M; Bouche, P; Bolgert, F; Chaunu, M P; Rosenheim, M; Cathala, H P; Gentilini, M; Hauw, J J; Brunet, P

    1989-01-01

    Twenty five patients with peripheral neuropathy at different stages of human immunodeficiency virus (HIV) infection are reported. Cerebrospinal fluid (CSF) findings were available in 17 cases, electrophysiology in all and a neuromuscular biopsy in 11. Of six otherwise asymptomatic HIV+ patients, five had chronic inflammatory demyelinating polyneuropathy (CIDP) and one acute inflammatory demyelinating polyneuropathy (AIDP). CSF showed pleocytosis in all cases. Infiltration of the endoneurium and/or the epineurium by mononuclear cells was seen in biopsies from three cases. These six patients recovered either spontaneously, or with corticosteroids or plasmaphereses. Of five patients with AIDS related complex (ARC), three had distal predominantly sensory peripheral neuropathy (DSPN), one CIDP and one mixed neuropathy. Of 14 patients with AIDS, one had mononeuropathy multiplex and 13 painful DSPN. Electrophysiological studies were consistent with an axonopathy. Nerve biopsies in six cases showed axonal changes but surprisingly associated with marked segmental demyelination in two cases. Cell infiltration was present in nerve samples in two cases. Five patients died within six months after the onset of the neuropathy. PMID:2559161

  2. 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

  3. Treatment of refractory chronic demyelinating polyneuropathy with lymphoid irradiation

    SciTech Connect

    Rosenberg, N.L.; Lacy, J.R.; Kennaugh, R.C.; Holers, V.M.; Neville, H.E.; Kotzin, B.L.

    1985-03-01

    Four patients with refractory or poorly responsive chronic progressive demyelinating polyneuropathy (CPDP) were treated with total lymphoid irradiation (total dose, 2000 rad) in an uncontrolled feasibility study. All patients had previously failed conventional therapy for CPDP, as well as other unconventional treatments. During a follow-up period of 7 to 12 months after total lymphoid irradiation, there was a profound and sustained suppression of the absolute lymphocyte count and in vitro lymphocyte function, as well as an increase in the ratio of Leu-2 to Leu-3 T cells in the blood. Three of the four patients demonstrated improvement in distal muscle strength, and this was associated with increased functional capabilities in two patients. In contrast, no clinical improvement in sensation was noted in any patient. Nerve conduction studies showed patchy improvement in three patients. The results of this preliminary uncontrolled study indicate that radiotherapy deserves further study in the treatment of CPDP.

  4. Correlation Between the Severity of Diabetic Peripheral Polyneuropathy and Glycosylated Hemoglobin Levels: A Quantitative Study

    PubMed Central

    Lee, Won-Jae; Jang, Sol; Lee, Seung-Hwa

    2016-01-01

    Objective To investigate risk factors for diabetic peripheral polyneuropathy and their correlation with the quantified severity of nerve dysfunction in patients with diabetes mellitus (DM). Methods A total of 187 diabetic patients with clinically suspected polyneuropathy (PN) were subclassified into 2 groups according to electrodiagnostic testing: a DM-PN group of 153 diabetic patients without electrophysiological abnormality and a DM+PN group of 34 diabetic patients with polyneuropathy. For all patients, age, sex, height, weight, duration of DM, and plasma glycosylated hemoglobin (HbA1c) level were comparatively investigated. A composite score was introduced to quantitatively analyze the results of the nerve conduction studies. Logistic regression analysis and multiple regression analysis were used to evaluate correlations between significant risk factors and severity of diabetic polyneuropathy. Results The DM+PN group showed a significantly higher HbA1c level and composite score, as compared with the DM-PN group. Increased HbA1c level and old age were significant predictive factors for polyneuropathy in diabetic patients (odds ratio=5.233 and 4.745, respectively). In the multiple linear regression model, HbA1c and age showed a significant positive association with composite score, in order (β=1.560 and 0.253, respectively). Conclusion Increased HbA1c level indicative of a state of chronic hyperglycemia was a risk factor for polyneuropathy in diabetic patients and a quantitative measure of its severity. PMID:27152276

  5. Angioblast Derived from ES Cells Construct Blood Vessels and Ameliorate Diabetic Polyneuropathy in Mice

    PubMed Central

    Kamiya, Hideki; Naruse, Keiko; Cheng, Zhao; Ito, Sachiko; Shibata, Taiga; Kondo, Masaki; Kato, Jiro; Okawa, Tetsuji; Fujiya, Atsushi; Suzuki, Hirohiko; Kito, Tetsutaro; Hamada, Yoji; Oiso, Yutaka; Isobe, Kenichi; Nakamura, Jiro

    2015-01-01

    Background. Although numerous reports addressing pathological involvements of diabetic polyneuropathy have been conducted, a universally effective treatment of diabetic polyneuropathy has not yet been established. Recently, regenerative medicine studies in diabetic polyneuropathy using somatic stem/progenitor cell have been reported. However, the effectiveness of these cell transplantations was restricted because of their functional and numerical impairment in diabetic objects. Here, we investigated the efficacy of treatment for diabetic polyneuropathy using angioblast-like cells derived from mouse embryonic stem cells. Methods and Results. Angioblast-like cells were obtained from mouse embryonic stem cells and transplantation of these cells improved several physiological impairments in diabetic polyneuropathy: hypoalgesia, delayed nerve conduction velocities, and reduced blood flow in sciatic nerve and plantar skin. Furthermore, pathologically, the capillary number to muscle fiber ratios were increased in skeletal muscles of transplanted hindlimbs, and intraepidermal nerve fiber densities were ameliorated in transplanted plantar skin. Transplanted cells maintained their viabilities and differentiated to endothelial cells and smooth muscle cells around the injection sites. Moreover, several transplanted cells constructed chimeric blood vessels with recipient cells. Conclusions. These results suggest that transplantation of angioblast like cells induced from embryonic stem cells appears to be a novel therapeutic strategy for diabetic polyneuropathy. PMID:25977928

  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. 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

  8. Functioning of patients with chronic idiopathic axonal polyneuropathy (CIAP).

    PubMed

    Erdmann, Peter G; Teunissen, Laurien L; van Genderen, Frank R; Notermans, Nicolette C; Lindeman, Eline; Helders, Paul J M; van Meeteren, Nico L U

    2007-09-01

    Although patients with Chronic Idiopathic Axonal Polyneuropathy (CIAP) report a slow deterioration of sensory and motor functions, the impact of this deterioration on daily functioning has not yet been investigated in detail. The first aim of this cross-sectional study involving 56 patients with CIAP was, therefore, to assess patients' functioning with use of the International Classification of Functioning, Disability and Health (ICF). The second aim was to find determinants of walking ability, dexterity, and autonomy. Fatigue and limited walking ability were present in most patients and differed considerably. In regression models, age, muscle strength, and fatigue together explained 63% of the variance in walking ability, which by itself explained almost 50% of the variance in patients' autonomy indoors and outdoors (42% and 49%, respectively). Muscle strength and sensory function scores together explained 30% of the variance in dexterity scores, which in turn explained only 13% of the variance in autonomy indoors. The diminished autonomy of patients with CIAP might be improved by reducing fatigue, by means of training, and by improving walking ability. PMID:17385078

  9. Assessing Decreased Sensation and Increased Sensory Phenomena in Diabetic Polyneuropathies

    PubMed Central

    Herrmann, David N.; Staff, Nathan P.; Dyck, P. James B.

    2013-01-01

    Loss of sensation and increased sensory phenomena are major expressions of varieties of diabetic polyneuropathies needing improved assessments for clinical and research purposes. We provide a neurobiological explanation for the apparent paradox between decreased sensation and increased sensory phenomena. Strongly endorsed is the use of the 10-g monofilaments for screening of feet to detect sensation loss, with the goal of improving diabetic management and prevention of foot ulcers and neurogenic arthropathy. We describe improved methods to assess for the kind, severity, and distribution of both large- and small-fiber sensory loss and which approaches and techniques may be useful for conducting therapeutic trials. The abnormality of attributes of nerve conduction may be used to validate the dysfunction of large sensory fibers. The abnormality of epidermal nerve fibers/1 mm may be used as a surrogate measure of small-fiber sensory loss but appear not to correlate closely with severity of pain. Increased sensory phenomena are recognized by the characteristic words patients use to describe them and by the severity and persistence of these symptoms. Tests of tactile and thermal hyperalgesia are additional markers of neural hyperactivity that are useful for diagnosis and disease management. PMID:24158999

  10. Pathways in the diagnosis and management of diabetic polyneuropathy.

    PubMed

    Kaku, Michelle; Vinik, Aaron; Simpson, David M

    2015-06-01

    Distal symmetric polyneuropathy (DSPN), the most common form of diabetic neuropathy, has a complex pathophysiology and can be a major source of physical and psychologic disability. The management of DSPN can be frustrating for both patient and physician. This article provides a general overview of typical patient pathways in DSPN, and highlights variations in diagnosis, management, and referral patterns among different providers. DSPN is managed in several settings by primary care physicians (PCPs), specialists, and nurse practitioners. The initial clinical management of the patient is often dependent on the presenting complaint, the referral pattern of the provider, level of comfort of the PCP in managing diabetic complications, and geographic access to specialists. The primary treatment of DSPN focuses mainly on glycemic control and adjustment of modifiable risk factors, but other causes of neuropathy should also be investigated. Several pharmacologic agents are recommended by treatment guidelines, and as DSPN typically exists with comorbid conditions, a multimodal therapeutic approach should be considered. Barriers to effective management include failure to recognize DSPN, and misdiagnosis. Patient education also remains important. Referral patterns vary widely according to geographic location, access to services, provider preferences, and comfort in managing complex aspects of the disease. The variability in patient pathways affects patient education, satisfaction, and outcomes. Standardized screening tools, a multidisciplinary team approach, and treatment algorithms for diabetic neuropathy should improve future care. To improve patient outcomes, DSPN needs to be diagnosed sooner and interventions made before significant nerve damage occurs.

  11. 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.

  12. Clinical trials in CIDP and chronic autoimmune demyelinating polyneuropathies.

    PubMed

    Dalakas, Marinos C

    2012-05-01

    The main chronic autoimmune neuropathies include chronic inflammatory demyelinating polyneuropathy (CIDP), multifocal motor neuropathy (MMN), and anti-myelin-associated glycoprotein (MAG) demyelinating neuropathy. On the basis of randomized controlled studies, corticosteroids, intravenous immunoglobulin (IVIg), and plasmapheresis provide short-term benefits in CIDP. MMN responds only to IVIg. Because in MMN and CIDP, IVIg infusions are required every 3-6 weeks to sustain benefits or long-term remissions, there is a need for "IVIg-sparing" agents. In CIDP, immunosuppressive drugs, such as azathioprine, cyclosporine, methotrexate, mycophenolate, and cyclophosphamide, are used, but controlled trials have not shown that they are effective. Controlled trials have also not shown benefit to any agents in anti-MAG neuropathy. However, clinicians use many immunosuppressive drugs in both settings, but all have potentially serious side effects and are only effective in some patients. Thus, there is a need for new therapies in the inflammatory and paraproteinemic neuropathies. New agents targeting T cells, B cells, and transmigration and transduction molecules are discussed as potential treatment options for new trials. The need for biomarkers that predict therapeutic responses or identify patients with active disease is emphasized, and the search for better scoring tools that capture meaningful changes after response to therapies is highlighted.

  13. Current concepts in the management of diabetic polyneuropathy.

    PubMed

    Ziegler, Dan

    2011-05-01

    Approximately one in three people with diabetes is affected by diabetic distal symmetric sensorimotor polyneuropathy (DSPN), which represents a major health problem as it may present with excruciating neuropathic pain and is responsible for substantial morbidity, increased mortality and impaired quality of life. Neuropathic pain causes considerable interference with sleep, daily activities, and enjoyment of life. Treatment is based on four cornerstones: (1) intensive diabetes therapy and multifactorial risk intervention; (2) treatment based on pathogenetic mechanisms; (3) symptomatic treatment; and (4) 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, based on these pathogenetic mechanisms, therapeutic approaches could be derived, some of which are currently being evaluated in clinical trials. Management of chronic painful DSPN remains a challenge for the physician and should consider the following practical rules: the appropriate and effective drug has to be tried and identified in each patient by carefully titrating the dosage based on efficacy and side effects; lack of efficacy should be judged only after 2-4 weeks of treatment using an adequate dosage. Analgesic combination therapy may be useful, and potential drug interactions have to be considered given the frequent polypharmacy in people with diabetes. Not only increased alcohol consumption but also the traditional cardiovascular risk factors such as visceral obesity, hypertension, hyperlipidemia and smoking have a role in the development and progression of diabetic neuropathy and hence need to be prevented or treated. PMID:21534920

  14. 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

  15. Refsum's disease may mimic familial Guillain Barre syndrome.

    PubMed

    Verny, Christophe; Prundean, Adriana; Nicolas, Guillaume; Pautot, Vivien; Maugin, Dominique; Levade, Thierry; Bonneau, Dominique; Dubas, Frederic

    2006-11-01

    Refsum's disease is a rare autosomal recessive disorder with clinical features including retinitis pigmentosa, anosmia, deafness, chronic sensory-motor neuropathy, ataxia and the accumulation of phytanic acid in blood plasma and body tissues. We report the occurrence of Refsum's disease in two sisters, both presenting with acute demyelinating polyneuropathy mimicking the familial Guillain Barre syndrome. Thus, when GBS is suspected, particularly in cases of familial recurrence as well as in atypical cases of acute polyneuropathy, the diagnosis of Refsum's disease should be considered, looking for other features of the disease and, if appropriate, testing plasma phytanic acid levels.

  16. Effects of aldose reductase inhibitor treatment in diabetic polyneuropathy - a clinical and neurophysiological study.

    PubMed Central

    Fagius, J; Jameson, S

    1981-01-01

    The efficacy of treatment with an aldose reductase inhibitor (1,3-dioxo-1 H-benz-de-isoquinoline-2(3H)-acetic acid, AY-22,284, Alrestatin) on peripheral nerve function in diabetic polyneuropathy was assessed. Thirty patients with long-standing diabetes and slight to moderate neuropathy participated in the double-blind placebo trial. Clinical examination, sensory threshold determinations for vibratory, tactile and thermal stimuli, conduction velocity measurements and studies of automatic function were performed to evaluate the treatment. Significant differences favouring Alrestatin over placebo were found for many of the measured variables, whereas no changes occurred on placebo. The apparent improvement of neuropathy occurred despite persisting hyperglycaemia. The results indicate that aldose reductase inhibitor treatment may be of value in diabetic polyneuropathy, and provide support for the sorbitol pathway hypothesis of diabetic polyneuropathy. PMID:6801211

  17. 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.

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

    PubMed Central

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

    2015-01-01

    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. PMID:25808373

  19. [Diabetic somatic polyneuropathy. Pathogenesis, clinical manifestations and therapeutic concepts].

    PubMed

    Hilz, M J; Marthol, H; Neundörfer, B

    2000-06-01

    Diabetic polyneuropathy is the most frequent neuropathy in western countries. In Germany, there are 3.5 to 4 million diabetic patients. Diagnosis should rule out other polyneuropathies and assess two out of the five diagnostic criteria: neuropathic symptoms, neuropathic deficits, pathological nerve conduction studies, pathological quantitative sensory testing and pathological quantitative autonomic testing. So far, the pathophysiology of diabetic neuropathy remains to be fully understood. Among the various pathophysiological concepts are the Sorbitol-Myo-Inositol hypothesis attributing Myo-Inositol depletion to the accumulation of Sorbitol and Fructose, the concept of deficiency of essential fatty acids with reduced availability of gamma-linolenic-acid and prostanoids, the pseudohypoxia- and hypoxia-hypothesis attributing endothelial and axonal dysfunction and structural lesions to increased oxidative stress and free radical production. Obviously, the hyperglycemia induced generation of advanced glycation end products (AGEs) also contributes to structural dysfunctions and lesions. Elevated levels of circulating immune complexes and activated T-lymphocytes as well the identification of autoantibodies against vagus nerve or sympathetic ganglia support the concept of an immune mediated neuropathy. The reduction of neurotrophic factors such as nerve growth factor, neurotrophin-3 or insulin-like growth factors also seems to further diabetic neuropathy. The symmetrical, distally pronounced and predominantly sensory neuropathy is far more frequent than the symmetrical neuropathy with predominant motor weakness or the asymmetrical neuropathy. The painless neuropathy manifests with impaired light touch sensation, position sense, vibratory perception and diminished or absent ankle deep tendon reflexes. The painful sensory diabetic neuropathy primarily affects small nerve fibers and accounts for decreased temperature perception and paresthesias. The proximal, diabetic

  20. 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. PMID:27322439

  1. Family.

    ERIC Educational Resources Information Center

    Hurst, Hunter, Ed.; And Others

    1985-01-01

    This document contains the fourth volume of "Today's Delinquent," an annual publication of the National Center for Juvenile Justice. This volume deals with the issue of the family and delinquency. "The Family and Delinquency" (LaMar T. Empey) systematically reviews and weighs the evidence to support prominent theories on the origins of…

  2. Is ultrasonography useful in the diagnosis of the polyneuropathy in diabetic patients?

    PubMed Central

    Agirman, Mehmet; Yagci, Ilker; Leblebicier, Merve Akdeniz; Ozturk, Demet; Akyuz, Gulseren Derya

    2016-01-01

    [Purpose] The aim of this study was to investigate the usefulness of ultrasonography for the diagnosis of polyneuropathy in diabetic patients by examination of the median and ulnar nerves. [Subjects and Methods] Sixty-three diabetic patients and fourteen controls were enrolled in the study. Nerve conduction studies were performed on both upper and lower limbs. Median and ulnar nerve cross-sectional areas were measured at the wrist and forearm levels in 140 hands by ultrasound. [Results] The median nerve cross-sectional area was increased at the hook of hamatum, pisiform bone, and radioulnar joint levels in patients with carpal tunnel syndrome. The ulnar nerve area at the medial epicondyle was significantly increased in the diabetic polyneuropathy (9.2 ± 1.6), diabetic polyneuropathy plus carpal tunnel syndrome (9.3 ± 1.4), and carpal tunnel syndrome (9.2 ± 1.9) groups compared with the control group (7.7 ± 1.1). In receiver operating characteristics analysis, the cutoff value of the ulnar nerve was 8.5 mm2 at ulnar epicondyle with 71.4% specificity and 70.4% sensitivity, corresponding to the highest diagnostic accuracy for diabetic polyneuropathy. [Conclusion] Ultrasonographic examination of the median and ulnar nerves can be an alternative or additional diagnostic modality for the evaluation of neuropathies in diabetic patients. PMID:27799707

  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. 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…

  5. Telbivudine in liver transplant recipients: Renal protection does not overcome the risk of polyneuropathy and myopathy.

    PubMed

    Turan, Ilker; Yapali, Suna; Bademkiran, Fikret; Kose, Timur; Duman, Soner; Sozbilen, Murat; Gunsar, Fulya; Ersoz, Galip; Akarca, Ulus Salih; Ozutemiz, Omer; Karasu, Zeki

    2015-08-01

    The recently reported benefit of telbivudine for renal function has not been systematically studied in long-term liver transplantation (LT) recipients who are at high risk for renal impairment. We aimed to examine whether switching lamivudine therapy to telbivudine could improve renal function in LT recipients who have impaired renal function. This single-center, prospective cohort study enrolled LT recipients who were on lamivudine for hepatitis B virus (HBV) prophylaxis and who had renal impairment for at least 1 year. Lamivudine was switched to telbivudine. The primary outcome was to evaluate the change in renal function at weeks 12, 24, 36, and 48. The secondary outcomes were to assess the efficacy of telbivudine for HBV prophylaxis and the safety profile of telbivudine in the posttransplant setting. After 45 patients were enrolled, the study was terminated early because of increased rates of polyneuropathy/myopathy. During telbivudine treatment (median, 64 weeks), estimated glomerular filtration rate (eGFR) increased in 34 patients (76%). The improvement in renal function was prominent after 24 weeks of telbivudine treatment. Telbivudine was effective as prophylaxis against HBV recurrence. Twenty-six patients (58%) developed polyneuropathy and/or myopathy. The 1-year estimated incidence of polyneuropathy/myopathy was 28%. Diabetes was the strongest predictor of polyneuropathy/myopathy (hazard ratio, 4.13; 95% confidence interval, 1.49-11.50; P = 0.007). In conclusion, although it seems to have a favorable effect in the improvement of renal function and seems to be effective in the prevention of HBV recurrence, the high risk of polyneuropathy and myopathy hampers the use of telbivudine in LT recipients.

  6. The Possible Role of Tumor Necrosis Factor-α in Diabetic Polyneuropathy

    PubMed Central

    Yagihashi, Soroku; Toyota, Takayoshi

    2003-01-01

    In this review, the authors provide evidences that imply the role of tumor necrosis factor-α (TNF-α) in the pathogenesis of diabetic complications, especially diabetic polyneuropathy. Under chronic hyperglycemia, endogenous TNF-α production is accelerated in microvascular and neural tissues, which may undergo an increased microvascular permeability, hypercoagulability, and nerve damage, thus initiating and promoting the development of characteristic lesions of diabetic microangiopathy and polyneuropathy. Enhanced TNF-α production may also promote atherosclerosis due to increased insulin resistance and the expression of adhesion molecules. Clinical application of specific agents that suppress production and/or activity of TNF-α may inhibit the development and exacerbation of chronic diabetic complications. PMID:14630568

  7. [Lead arsenate as an underestimated cause of polyneuropathy in rural environment: description of two cases].

    PubMed

    Foà, V; Gilioli, R; Rizzi, B; Merluzzi, F

    1976-01-01

    Two cases of lead arsenate polyneuropathy are described in two farmers from the same rural area; the etiology of the neurologic al disorder was ascertained only after repeated hospital admissions. It was a neuropathy of the radial nerve associated with signs of peripheral impairment of the lower limbs with pains and paresthesias. Abdominal colies, arterial hipertension, anaemia and signs of renal impairment were also present. Specific therapy was undertaken which was soon followed by nearly full recovery. Lead and arsenic toxicology are discussed with particular focusing on the necessity emphasis on commun occupational hazards both in terms of diagnostic and therapeutic procedures. The differential diagnosis is considered between the observed clinical picture and other polyneuropathies of different etiology i.e. dysmetabolic (porphyria) or toxic (insecticides, T.O.C.P., etc).

  8. [Efficiency of cerebrolysin in the diabetic polyneuropathy in patients with insulin-dependency diabetes mellitus].

    PubMed

    Bogdanov, E I; Sakovets, T G

    2011-01-01

    78 patients with clinical features of diabetic polyneuropathy have been examined. 39 patients, who took cerebrolysin, compose the basic group, 39 patients, who made up control one, took milgamma. The dynamics of clinical signs of the diabetic polyneuropathy was evaluated by difference of points in the first and the second examination with the use of scales: NSC (Neuropathy Symptoms and Change) and NDS (Neuropathy Dysfunction Score); the visual analog scale (VAS) and changes of the signs of orthostatic test. For the detection of the effectiveness of treatment was estimated dynamics of neuropathic disorders represented in patient with diabetes mellitus types I and II (with secondary insulin-dependency), witch allowed to reveal the considerable therapeutic effectiveness of cerebrolysin in treatment of diabetic polyneuropathic disorders.

  9. [Evaluating dependency of medical rehabilitation results in occupational polyneuropathy patiens on treatment strategy and work conditions].

    PubMed

    Boiko, I V; Loginova, N N; Klitsenko, O A

    2015-01-01

    The authors evaluated efficiency of rehabilitation in patients with upper limbs occupational polyneuropathy, in accordance with length of service under physical overstrain. The study was based on follow-up of 268 patients. Treatment was initiated after the patients discontinued work hazardous for health. Drug and sanatorium treatment was effective in 67-86% of patients (with differences in occupational groups). The effect was only transitory (for 15-60 days) decrease of the disease clinical manifestations. Rehabilitation prognosis was reliably better in patients who worked during the disease development in conditions with number of stereotypic working movements of hands within hygienic norms. The treatment efficiency is reliably higher when started at younger age, regular drug and sanatorium treatment for many years. Placement of the patients on jobs avoiding physical overstrain enabled nowadays to prevent progression of occupational polyneuropathy.

  10. 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

  11. [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.

  12. 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. PMID:12811779

  13. [Polyneuropathy and central nervous system diseases before and after heart transplantation. Is cyclosporin neurotoxic?].

    PubMed

    Porschke, H; Strenge, H; Stauch, C

    1991-10-18

    In a cross-sectional study, 52 patients (44 men, 8 women, mean age 50.6 [19-68] years) were investigated clinically and electrophysiologically for evidence of peripheral and central nervous system damage before and after heart transplantation. 20 patients were investigated before heart transplantation (group 1), 16 at 7 days to 5 months after transplantation (early post-operative group; group 2) and 16 at 6 to 32 months after transplantation (late post-operative group; group 3). Nerve conduction studies (median, peroneal and sural nerves) revealed polyneuropathy in 14 out of 16 patients in group 2, significantly more than in group 1 (11 out of 19) and group 3 (9 out of 16). The mean blood cyclosporin concentration was 656 ng/ml in group 2 and 409 ng/ml in group 3 (P less than 0.001). Patients in group 3 with polyneuropathy had significantly higher cyclosporin concentrations than patients without polyneuropathy (505 vs 284 ng/ml; P less than 0.01). Among patients who had undergone operations, there were no noteworthy differences between the mean cyclosporin concentrations and clinical data in those with or without central nervous system lesions. There is preliminary evidence of a neurotoxic effect of cyclosporin on the peripheral but not the central nervous system. PMID:1935623

  14. 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.

  15. Reversible nerve conduction block in patients with polyneuropathy after ultrasound thermotherapy at therapeutic dosage.

    PubMed

    Hong, C Z

    1991-02-01

    This study investigated the effect of ultrasound on nerve conduction in patients with polyneuropathy. Eight able-bodied controls (Group C) and 16 patients with clinical and physiologic evidence of polyneuropathy were tested. Eight patients (Group NP) had no aching pain symptoms; eight patients (Group P) had severe aching pain, burning sensation, unpleasant tingling, and/or hyperesthesia in the lower extremities. For two minutes, therapeutic ultrasound in doses of 0.5, 1.0, and 1.5W/cm2 were applied over the anterior surface of the leg along the pathway of the deep peroneal nerve. Peroneal nerve conduction studies were performed before, during, and after ultrasound treatment. The compound muscle action potential (CMAP) was recorded from the extensor digitorum brevis muscle. Nerve conduction studies on all eight patients in Group P revealed a significant decrease (41.4% and 44% reduced for doses of 1.0W/cm2 and 1.5W/cm2, respectively; p less than .05) in amplitude of CMAP (from baseline to the first negative peak), and an increase (6.4% and 6.7% increased for doses of 1.0W/cm2 and 1.5W/cm2, respectively; p less than .05) in proximal latency one minute after ultrasound application with a dose of 1.0 or 1.5W/cm2, but not with a dose of 0.5W/cm2 (p greater than 0.1). Changes returned to pretreatment values within five minutes of cessation of ultrasound therapy. In Groups C and NP, there were no significant changes in amplitudes of CMAP or proximal latency before, during, or after ultrasound therapy at a dose of 0.5, 1.0, or 1.5W/cm2. It was concluded that ultrasonic therapy with therapeutic dosage may cause a reversible conduction block on patients with painful polyneuropathy.

  16. 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

  17. Redistribution of joint moments is associated with changed plantar pressure in diabetic polyneuropathy

    PubMed Central

    Savelberg, Hans HCM; Schaper, Nicolaas C; Willems, Paul JB; de Lange, Ton LH; Meijer, Kenneth

    2009-01-01

    Background Patients with diabetic polyneuropathy (DPN) are often confronted with ulceration of foot soles. Increased plantar pressure under the forefoot has been identified as a major risk factor for ulceration. This study sets out to test the hypothesis that changes in gait characteristics induced by DPN related muscle weakness are the origin of the elevated plantar pressures. Methods Three groups of subjects participated: people diagnosed with diabetes without polyneuropathy (DC), people diagnosed with diabetic polyneuropathy (DPN) and healthy, age-matched controls (HC). In all subjects isometric strength of plantar and dorsal flexors was assessed. Moreover, joint moments at ankle, knee and hip joints were determined while walking barefoot at a velocity of 1.4 m/s. Simultaneously plantar pressure patterns were measured. Results Compared to HC-subjects, DPN-participants walked with a significantly increased internal plantar flexor moment at the first half of the stance phase. Also in DPN-subjects the maximal braking and propelling force applied to the floor was decreased. Moreover, in DPN-subjects the ratio of forefoot-to-rear foot plantar pressures was increased. Body-mass normalized strength of dorsal flexors showed a trend to be reduced in people with diabetes, both DC and DPN, compared to HC-subjects. Plantar flexors tended to be less weak in DC compared to HC and in DPN relative to DC. Conclusion The results of this study suggest that adverse plantar pressure patterns are associated with redistribution of joint moments, and a consequent reduced capacity to control forward velocity at heel strike. PMID:19192272

  18. Chronic Inflammatory Demyelinating Polyneuropathy Following Anti-TNF-α Therapy With Infliximab for Crohn's Disease

    PubMed Central

    Concepcion, Orestes; Schlachterman, Alexander; Glover, Sarah; Forsmark, Christopher Y.

    2016-01-01

    We present a 29-year-old male with Crohn's disease who developed chronic inflammatory demyelinating polyneuropathy (CIDP) related to infliximab therapy. He developed lower extremity weakness and dysesthesia 3 weeks after a fourth infliximab dose. Laboratory examination revealed an elevated cerebrospinal fluid protein without pleocytosis. The patient initially responded to plasmapheresis therapy with marked symptomatic improvement, but relapsed and was refractory to subsequent treatments with plasmaphereisis, intravenous immunoglobulin, and glucocorticoids. While a causal relationship between infliximab and CIDP cannot be proven, clinicians should monitor Crohn's disease patients who are receiving TNF-α antagonists for neurologic symptoms suggestive of demyelinating disease. PMID:27144200

  19. 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

  20. 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.

  1. [Sensorimotor polyneuropathy induced by almitrine dimesylate. Anatomo-clinical study of a case].

    PubMed

    Rousseau, J J; Lust, C A; Brucher, J M

    1987-01-01

    A 65-year-old male patient with chronic obstructive long disease developed a severe motor and sensory polyneuropathy during the treatment with almitrine bismesylate (Vectarion). Electrophysiological and neuropathological investigations demonstrated a distal axonopathy. A medicamentous origin was suspected since other causal factors were lacking. Eight months after stopping of treatment, the functional recovery was complete. The authors discuss the recent data recorded in the literature concerning the neurological complications induced by this new drug, which is increasingly administered in diseases of the respiratory tract. PMID:2890254

  2. Sensorimotor polyneuropathy and foot-drop as result of a prostate cancer paraneoplastic syndrome

    PubMed Central

    Bodkin, John J; Duff, Michael; Seereiter, Phillip J; Chevli, K Kent

    2013-01-01

    Paraneoplastic syndromes (PNS) vary in incidence and manifestation based on tumor histology. PNS secondary to urologic malignancies have an extremely low incidence. Most reported cases of PNS from urologic malignancies are associated with adenocarcinoma. Peripheral neuropathy-associated PNS from urologic malignancy are exceedingly rare. An 80-year-old male developed a paraneoplastic sensorimotor polyneuropathy and foot-drop after a diagnosis of clinical stage T2cN0M0, Gleason grade 5+4 prostate cancer. A thorough workup is needed in order to adequately assess and treat PNS. Careful analysis must be used to determine the root cause of a patient’s symptoms. PMID:24400247

  3. Systemic Lupus Erythematosus With Acute Inflammatory Demyelinating Polyneuropathy: A Case Report and Review of the Literature.

    PubMed

    Li, Xiangling; Wang, Yanqiang

    2016-07-01

    We recently encountered a patient with acute inflammatory demyelinating polyneuropathy (AIDP) that was associated with systemic lupus erythematosus (SLE). A 34-year-old Chinese female with a 3-year history of SLE presented with acute bilateral leg weakness and paraparesis, and lost the ability to walk 1 day after noticing bilateral leg numbness and pain for 12 days. Physical examination revealed bilateral facial muscle paralysis, muscle strength in the legs with graded 1/5 proximally and 2/5 distally bilaterally and absence of deep tendon reflex in both knees and ankles. Paresthesia was observed in distal limbs with glove and stocking distribution. Cerebrospinal fluid analysis demonstrated albuminocytologic dissociation. Electrophysiologic survey also indicated sensory-motor demyelinating polyneuropathy. The diagnosis of SLE was established based on her initial symptoms including intermittent fevers, hair loss, oral ulcers, malar rash and arthritis affecting the elbow, wrist and hand joints; positive immunologic findings for antinuclear antibody (ANA), anti-DNA antibody, anti-Smith (anti-Sm) antibody, low serum complement levels, and the kidney biopsy specimen showed glomerular mesangial proliferation with focal endothelial cell proliferation (ISN/PPS 2004 classification lupus nephritis, class III). Treatment with intravenous immunoglobulin, methylprednisolone and cyclophosphamide resulted in clinical and electrophysiological improvement. PMID:27298667

  4. 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

  5. Systemic Lupus Erythematosus With Acute Inflammatory Demyelinating Polyneuropathy: A Case Report and Review of the Literature

    PubMed Central

    Li, Xiangling; Wang, Yanqiang

    2016-01-01

    We recently encountered a patient with acute inflammatory demyelinating polyneuropathy (AIDP) that was associated with systemic lupus erythematosus (SLE). A 34-year-old Chinese female with a 3-year history of SLE presented with acute bilateral leg weakness and paraparesis, and lost the ability to walk 1 day after noticing bilateral leg numbness and pain for 12 days. Physical examination revealed bilateral facial muscle paralysis, muscle strength in the legs with graded 1/5 proximally and 2/5 distally bilaterally and absence of deep tendon reflex in both knees and ankles. Paresthesia was observed in distal limbs with glove and stocking distribution. Cerebrospinal fluid analysis demonstrated albuminocytologic dissociation. Electrophysiologic survey also indicated sensory-motor demyelinating polyneuropathy. The diagnosis of SLE was established based on her initial symptoms including intermittent fevers, hair loss, oral ulcers, malar rash and arthritis affecting the elbow, wrist and hand joints; positive immunologic findings for antinuclear antibody (ANA), anti-DNA antibody, anti-Smith (anti-Sm) antibody, low serum complement levels, and the kidney biopsy specimen showed glomerular mesangial proliferation with focal endothelial cell proliferation (ISN/PPS 2004 classification lupus nephritis, class III). Treatment with intravenous immunoglobulin, methylprednisolone and cyclophosphamide resulted in clinical and electrophysiological improvement. PMID:27298667

  6. Diabetic distal symmetric polyneuropathy: effect of low-intensity laser therapy.

    PubMed

    Khamseh, Mohammad Ebrahim; Kazemikho, Nooshafarin; Aghili, Rokhsareh; Forough, Bijan; Lajevardi, Marjan; Hashem Dabaghian, Fataneh; Goushegir, Ashrafeddin; Malek, Mojtaba

    2011-11-01

    Low-intensity laser therapy (LILT) has been considered as a treatment modality in diabetic distal symmetric polyneuropathy (DSP). The aim of this study is to determine the effectiveness of LILT on DSP. We examined 107 subjects with type 2 diabetes for detection of DSP using the Michigan Neuropathy Screening Instrument (MNSI). Seventeen subjects were eligible to be enrolled in the study. Nerve conduction studies (NCS) were performed in all eligible subjects as an objective method to confirm neuropathy. The participants received LILT three times a week for ten sessions. NCSs were reevaluated after completion of the treatment. The absolute changes in NCS parameters were considered to establish the effectiveness of the treatment. Baseline demographics were similar in all participants. The mean differences of NCV parameters were considered for comparison. At the end of the study, the subjects showed a significant increase in neural potential amplitudes (p < 0.05). This study clearly demonstrated a significant positive effect of LILT on improvement of nerve conduction velocity on diabetic distal symmetric polyneuropathy (DSP). This finding supports the therapeutic potential of LILT in DSP. PMID:21853320

  7. Effects of Sulbutiamine on Diabetic Polyneuropathy: An Open Randomised Controlled Study in Type 2 Diabetics

    PubMed Central

    Kiew, K.K.; Wan Mohamad, W.B.; Ridzuan, A.; Mafauzy, M.

    2002-01-01

    Thirty patients with diabetic polyneuropathy were recruited from the diabetic clinic in Hospital Universiti Sains Malaysia from 1996 to 1998. They were randomly assigned either sulbutiamine (Arcalion®) (15 patients) or no treatment (control group; 15 patients). Glycaemic control was assessed by blood glucose and HbA1. Severity of neuropathy was assessed by symptom and sign score, and electrophysiological parameters (nerve conduction velocity and compound muscle action potential) at entry to the study and after 6 weeks. There were improvements in the electrophysiological parameters in the treatment group when compared to the controls with significant improvement in the median nerve conduction velocity (p<0.001), median compound muscle action potential (p<0.001), peroneal nerve conduction velocity (p<0.001), and peroneal compound muscle action potential (p<0.001). No significant improvement in symptom and sign scores were noted between the groups but a significant improvement compared to base line was noted for the sulbutiamine treated group. (p< 0.05). The glycaemic control in both groups was not significantly different at base line and was stable throughout the study. Sulbutiamine objectively improved peripheral nerve function in diabetic polyneuropathy although the symptom score did not improve, possibly due to the short duration of the study. PMID:22969314

  8. Effects of sulbutiamine on diabetic polyneuropathy: an open randomised controlled study in type 2 diabetics.

    PubMed

    Kiew, K K; Wan Mohamad, W B; Ridzuan, A; Mafauzy, M

    2002-01-01

    Thirty patients with diabetic polyneuropathy were recruited from the diabetic clinic in Hospital Universiti Sains Malaysia from 1996 to 1998. They were randomly assigned either sulbutiamine (Arcalion(®)) (15 patients) or no treatment (control group; 15 patients). Glycaemic control was assessed by blood glucose and HbA1. Severity of neuropathy was assessed by symptom and sign score, and electrophysiological parameters (nerve conduction velocity and compound muscle action potential) at entry to the study and after 6 weeks. There were improvements in the electrophysiological parameters in the treatment group when compared to the controls with significant improvement in the median nerve conduction velocity (p<0.001), median compound muscle action potential (p<0.001), peroneal nerve conduction velocity (p<0.001), and peroneal compound muscle action potential (p<0.001). No significant improvement in symptom and sign scores were noted between the groups but a significant improvement compared to base line was noted for the sulbutiamine treated group. (p< 0.05). The glycaemic control in both groups was not significantly different at base line and was stable throughout the study. Sulbutiamine objectively improved peripheral nerve function in diabetic polyneuropathy although the symptom score did not improve, possibly due to the short duration of the study. PMID:22969314

  9. High Plasma Pentraxin 3 Levels in Diabetic Polyneuropathy Patients with Nociceptive Pain.

    PubMed

    Salcini, Celal; Atasever-Arslan, Belkis; Sunter, Gulin; Gur, Hazal; Isik, Fatma Busra; Saylan, Cemil Can; Yalcin, Ayse Destina

    2016-01-01

    Diabetic polyneuropathy is the most common neurologic complication of diabetes mellitus. Underlying mechanisms of diabetic polyneuropathy are related to various metabolic and inflammatory pathways. Pentraxin 3 (PTX3) is an acute phase protein that is produced locally at the inflammatory sites by several cell types. Thioredoxin binding protein 2 (TBP2) is a thioredoxin regulator involved in intracellular energy pathways and cell growth. We measured the plasma levels of PTX3 and TBP2 in type 2 diabetic patients (n = 27) with pain complaints and compared their levels with those of healthy age- and sex-matched subjects (n = 24). Moreover, the diabetic patients were divided into two groups using the Leeds Assessment of Neuropathic Symptoms and Signs (LANSS) pain scale: patients with nociceptive pain that is caused by tissue damage and patients with neuropathic pain that is caused by nerve damage. Patients with LANSS scores of < 12 were considered to have nocicceptive pain (n = 15), while patients with LANSS scores of ≥ 12 were considered to have neuropathic pain (n = 12). We found that PTX3 levels were significantly higher in diabetic patients compared to controls (p = 0.03), but there was no significant difference in the TBP2 levels. Importantly, patients with nociceptive pain had significantly higher PTX3 levels compared to patients with neuropathic pain (p < 0.05). Thus, plasma PTX3 levels can be helpful for discrimination of nociceptive pain from neuropathic pain in diabetic patients. We propose that PTX3 may contribute to the onset of nociceptive pain.

  10. Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens.

    PubMed

    Hagel, Christian; Lindenau, Matthias; Lamszus, Katrin; Kluwe, Lan; Stavrou, Dimitrios; Mautner, Victor-Felix

    2002-08-01

    Neurofibromatosis 2 (NF2) is an autosomal dominant disease characterised by development of tumours in the central and peripheral nervous system. Some NF2 patients develop acro-distal sensory motor polyneuropathy that can hardly be explained by the tumour burden alone. In the present study eight sural nerve biopsy specimens from seven NF2 patients suffering from polyneuropathy were investigated, data including clinical course of the disease, electrophysiological findings, teased fibre preparations, histopathological, morphometric, immunohistochemical, electron microscopic and molecular genetic findings. All patients suffered from distal symmetric reflex loss, symmetrical stocking-like hypalgesia and hypesthesia and loss of vibration sense later followed by a slowly progressive distal muscle atrophy and paresis. Sural nerve biopsy specimens revealed a pathological reduction of nerve fibre density correlating with age. In addition, diffuse proliferation of Schwann cells was observed in five of eight biopsies, and small endoneurial tumourlets of schwannomas and perineuriomas were found in two of eight and one of eight samples, respectively. Ki-67 labelling revealed a slight endoneurial proliferative activity in three cases. Schwann cell onion bulbs with or without central myelinated axon were seen in two cases. The findings suggest an axonopathy of multifactorial origin resulting not only from gross tumour growth but, in addition, from small endoneurial tumourlets, diffuse proliferation of Schwann cells and proliferation of perineurial cells. PMID:12111361

  11. [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. PMID:25872394

  12. [Chronic and predominantly sensory polyneuropathy in Toroku Valley where a mining company produced arsenic].

    PubMed

    Kawasaki, Shoichiro; Yazawa, Shogo; Ohnishi, Akio; Ohi, Takekazu

    2002-06-01

    We report 9 patients (5 males, 4 females, ages 63-77) with chronic polyneuropathy. They were exposed to arsenic for about 15-40 years in Toroku Valley, Takachiho-Town, Miyazaki Prefecture, Japan, where a mining company produced arsenic from 1920-1962. Predominantly sensory polyneuropathy was the most significant neurological finding. In 5 of them, superficial and deep sensation was equally affected over the entire body, including head, face, and mucous membranes of the mouth. The corneal reflexes were absent or sluggish. Pin-prick and light-touch perception was absent in their hands and legs. Another sensory disorder such as glove and stocking-type was seen in 4 of them. All 9 patients were comfortable with extremely hot water in their beverages, their baths, and their wash basins compared with controls. But these patients felt that their temperature sensation was normal. Motor involvement was minimal. Although motor-nerve conduction velocities were normal or reduced minimally, sensory-nerve conduction velocities were moderately reduced. Sural-nerve biopsy revealed reduction of both small myelinated and unmyelinated fibers, which occurs with axonal degeneration of peripheral nerves. Other main symptoms and signs were tension-type headaches, non-painful tonic spasms of limbs, and losses or significantly decreased sensations of taste and smell. Dantrolene-sodium was effective for the treatment of their non-painful tonic spasms of limbs. As for the general medical condition of these patients, all of them had suffered from chronic bronchitis and skin eruption during childhood or in their early life or in their young adulthood when the mine was producing arsenic. At the time of this study only four of them suffered from chronic bronchitis and none of them had skin eruptions or discoloration of the skin, 37 years after closure of the mine. These 9 patients were diagnosed as having chronic arsenic poisoning and arsenic polyneuropathy. The multiplicity of symptoms found in

  13. 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

  14. 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

  15. 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.

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

    PubMed

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

    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

  17. Sensorimotor polyneuropathy

    MedlinePlus

    ... function of the damaged nerves Job (vocational) therapy Occupational therapy Orthopedic treatments Physical therapy Wheelchairs, braces, or splints CONTROL OF SYMPTOMS Safety is important for people with ...

  18. 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.

  19. Human transthyretin in complex with iododiflunisal: structural features associated with a potent amyloid inhibitor

    PubMed Central

    2005-01-01

    Ex vivo and in vitro studies have revealed the remarkable amyloid inhibitory potency and specificity of iododiflunisal in relation to transthyretin [Almeida, Macedo, Cardoso, Alves, Valencia, Arsequell, Planas and Saraiva (2004) Biochem. J. 381, 351–356], a protein implicated in familial amyloidotic polyneuropathy. In the present paper, the crystal structure of transthyretin complexed with this diflunisal derivative is reported, which enables a detailed analysis of the protein–ligand interactions. Iododiflunisal binds very deep in the hormone-binding channel. The iodine substituent is tightly anchored into a pocket of the binding site and the fluorine atoms provide extra hydrophobic contacts with the protein. The carboxylate substituent is involved in an electrostatic interaction with the Nζ of a lysine residue. Moreover, ligand-induced conformational alterations in the side chain of some residues result in the formation of new intersubunit hydrogen bonds. All these new interactions, induced by iododiflunisal, increase the stability of the tetramer impairing the formation of amyloid fibrils. The crystal structure of this complex opens perspectives for the design of more specific and effective drugs for familial amyloidotic polyneuropathy patients. PMID:15689188

  20. 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

  1. Electrodiagnostic criteria for polyneuropathy and demyelination: application in 135 patients with Guillain-Barré syndrome. Dutch Guillain-Barré Study Group.

    PubMed Central

    Meulstee, J; van der Meché, F G

    1995-01-01

    Since the development of effective but expensive therapeutic strategies for the treatment of Guillain-Barré syndrome, early confirmation of the diagnosis has become very important. Electrodiagnostic criteria were developed for the discrimination of polyneuropathy and in particular for demyelination. The sensitivity and specificity of these criteria were determined in 135 patients with Guillain-Barré syndrome in an early stage of the disease, along with 45 healthy volunteers. The algorithms used to develop our criteria consisted of sets of selected electrodiagnostic variables, each of them relevant to the detection of polyneuropathy. Each set was applied on all of three consecutive electrodiagnostic examinations within one month of disease onset. Application of the best set resulted in 85% of patients with Guillain-Barré syndrome fulfilling the criteria for polyneuropathy at the first examination (mean time interval six days of disease onset), whereas none of the healthy volunteers fulfilled the criteria (sensitivity 85%, specificity 100%). The set of criteria for the detection of demyelination was fulfilled by 60% during the first examination (by 66% and 72% during the second and third examination). Application of criteria for demyelinating polyneuropathy as defined by others resulted in substantially lowered incidence (3%-46%). It is concluded that these criteria for the electrodiagnostic delineation of polyneuropathy are the most sensitive to date, with respect to the early confirmation of the diagnosis of Guillain-Barré syndrome. PMID:8530930

  2. 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

  3. Toxic polyneuropathy of shoe-industry workers. A study of 122 cases.

    PubMed Central

    Cianchetti, C; Abbritti, G; Perticoni, G; Siracusa, A; Curradi, F

    1976-01-01

    The toxic polyneuropathy observed in a group of shoe-industry workers in Italy was clinically characterised by a symmetrical prevalently distal motor deficit, with occasional marked weakness of pelvic girdle muscles, and frequently by only subjective sensory symptoms; non-specific disturbances usually preceded neurological signs. Subclinical cases of 'minimal' chronic neuropathy, characterised by alterations of a neurogenic type in the EMG without a reduction of motor nerve conduction velocity, were also observed. Worsening of the clinical picture, with further lowering of nerve conduction velocity, was noted in some cases up to four months after removal from the toxic environment. In the most severe cases clinical recovery took up to three years. The electromyographic and electroneurographic features were consistent with a mixed axonal neuropathy, with clear prevalence of the damage in the distal part of the nerve (dying-back neuropathy). Volatile substances, such as n-hexane and other low boiling point hydrocarbons found in high percentage in solvents and glues, are suggested as the causative agent. PMID:1011025

  4. 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. PMID:26804376

  5. Critical illness myopathy and polyneuropathy - A challenge for physiotherapists in the intensive care units.

    PubMed

    Pattanshetty, Renu B; Gaude, Gajanan S

    2011-04-01

    The development of critical patient related generalized neuromuscular weakness, referred to as critical illness polyneuropathy (CIP) and critical illness myopathy (CIM), is a major complication in patients admitted to intensive care units (ICU). Both CIP and CIM cause muscle weakness and paresis in critically ill patients during their ICU stay. Early mobilization or kinesiotherapy have shown muscle weakness reversion in critically ill patients providing faster return to function, reducing weaning time, and length of hospitalization. Exercises in the form of passive, active, and resisted forms have proved to improve strength and psychological well being. Clinical trials using neuromuscular electrical stimulation to increase muscle mass, muscle strength and improve blood circulation to the surrounding tissue have proved beneficial. The role of electrical stimulation is unproven as yet. Recent evidence indicates no difference between treated and untreated muscles. Future research is recommended to conduct clinical trials using neuromuscular electrical stimulation, exercises, and early mobilization as a treatment protocol in larger populations of patients in ICU. PMID:21814370

  6. A case of severe congenital chronic inflammatory demyelinating polyneuropathy with complete spontaneous remission.

    PubMed

    Majumdar, A; Hartley, L; Manzur, A Y; King, R H M; Orrell, R W; Muntoni, F

    2004-12-01

    Chronic inflammatory demyelinating polyneuropathy (CIPD) is characterised by progressive weakness, hyporeflexia and electrophysiological evidence of demyelination with maximal neurological deficit reached after at least 8 weeks progression. CIPD rarely affects children. We present a neonate with clinical features compatible with congenital CIPD. A term male infant of non-consanguineous parents was referred to us at birth with weakness and contractures affecting his legs, suggesting a prenatal onset of immobility. He also had evidence of bulbar dysfunction with poor suck, recurrent aspiration and requiring nasogastric feeding. He had no antigravity movements in the legs, bilateral wrist drop, distal joint contractures and absent deep tendon reflexes. Electromyography showed neurogenic changes, with nerve conduction velocities markedly reduced, increased distal motor latency and dispersed compound muscle action potentials. Cerebrospinal fluid protein was raised. Sural nerve biopsy demonstrated decreased numbers of myelinated fibres and inflammatory cell infiltrates. Muscle biopsy showed denervation. He only received supportive treatment and by 6 months he had fully recovered, and all electrophysiological parameters had normalised.

  7. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.

    PubMed

    Auer-Grumbach, Michaela; Toegel, Stefan; Schabhüttl, Maria; Weinmann, Daniela; Chiari, Catharina; Bennett, David L H; Beetz, Christian; Klein, Dennis; Andersen, Peter M; Böhme, Ilka; Fink-Puches, Regina; Gonzalez, Michael; Harms, Matthew B; Motley, William; Reilly, Mary M; Renner, Wilfried; Rudnik-Schöneborn, Sabine; Schlotter-Weigel, Beate; Themistocleous, Andreas C; Weishaupt, Jochen H; Ludolph, Albert C; Wieland, Thomas; Tao, Feifei; Abreu, Lisa; Windhager, Reinhard; Zitzelsberger, Manuela; Strom, Tim M; Walther, Thomas; Scherer, Steven S; Züchner, Stephan; Martini, Rudolf; Senderek, Jan

    2016-09-01

    Axonal polyneuropathies are a frequent cause of progressive disability in the elderly. Common etiologies comprise diabetes mellitus, paraproteinaemia, and inflammatory disorders, but often the underlying causes remain elusive. Late-onset axonal Charcot-Marie-Tooth neuropathy (CMT2) is an autosomal-dominantly inherited condition that manifests in the second half of life and is genetically largely unexplained. We assumed age-dependent penetrance of mutations in a so far unknown gene causing late-onset CMT2. We screened 51 index case subjects with late-onset CMT2 for mutations by whole-exome (WES) and Sanger sequencing and subsequently queried WES repositories for further case subjects carrying mutations in the identified candidate gene. We studied nerve pathology and tissue levels and function of the abnormal protein in order to explore consequences of the mutations. Altogether, we observed heterozygous rare loss-of-function and missense mutations in MME encoding the metalloprotease neprilysin in 19 index case subjects diagnosed with axonal polyneuropathies or neurodegenerative conditions involving the peripheral nervous system. MME mutations segregated in an autosomal-dominant fashion with age-related incomplete penetrance and some affected individuals were isolated case subjects. We also found that MME mutations resulted in strongly decreased tissue availability of neprilysin and impaired enzymatic activity. Although neprilysin is known to degrade β-amyloid, we observed no increased amyloid deposition or increased incidence of dementia in individuals with MME mutations. Detection of MME mutations is expected to increase the diagnostic yield in late-onset polyneuropathies, and it will be tempting to explore whether substances that can elevate neprilysin activity could be a rational option for treatment. PMID:27588448

  8. 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

  9. 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

    2016-01-01

    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. PMID:27629974

  10. 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

    2016-01-01

    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.

  11. Evaluation of low level laser therapy in reducing diabetic polyneuropathy related pain and sensorimotor disorders.

    PubMed

    Bashiri, Homayoon

    2013-01-01

    Over the past three decades physicians have used light level laser therapy (LLLT) for the management and the treatment of diabetic peripheral neuropathy and have obtained results that calls for further investigations. This study aimed to investigate the effectiveness of LLLT in treatment of pain symptoms in patients with diabetic polyneuropathy. In this study 60 patients with diabetic peripheral neuropathy were matched based on their sex, age, BMI, type of diabetes, duration of diabetes, and duration of pain, and randomized to case and control groups based on their established scores on the visual analog scale (VAS) and the Toronto clinical scoring system (TCSS). Cases received laser therapy with wavelength of 78 nm and 2.5 j/cm2 two times a week, each time for 5 min, for one month. During the same period, controls received sham laser therapy. Comparing the differences between the two groups' VAS and TCSS mean scores before the intervention with that of the 2 weeks and 4 weeks after the intervention we were able to see a statistically significant difference between the two groups (P<0.05). On the other hand, when we compared their VAS and TCSS mean scores 4 weeks and 2 weeks after the intervention we did not find any statistically significant difference between the two groups. We achieved the same results when we examined cases' and controls' pre and post VAS and TCSS scores independent from each other; no improvement in the assessment based on their 2 and 4 weeks comparisons tests. Laser therapy resulted in improved neuropathy outcomes in diabetic patients who received it relative to the group that received sham therapy, evaluating before and after LLLT assessments. Further studies are needed to test types of lasers, as well as different dosage and exposure levels required in different phase of neuropathic care, so as to obtain reproducible results. PMID:24026991

  12. 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.

  13. From treatment to preventive actions: improving function in patients with diabetic polyneuropathy.

    PubMed

    Sacco, Isabel C N; Sartor, Cristina D

    2016-01-01

    Diabetic polyneuropathy is an insidious and long-term complication of this disease. Synergistic treatments and preventive actions are crucial because there are no clear boundaries for determining when health professionals should intervene or what intervention would best avoid the consequences of neuropathy. Until now, most therapies to any diabetic individual were applied only after the patient's limb was ulcerated or amputated. The loss of muscle and joint functions is recognized as the main cause of plantar overloading. However, if foot and ankle exercises are performed following the early diagnosis of diabetes, they can enable the patient to maintain sufficient residual function to interact with the environment. This article summarizes the current knowledge about the musculoskeletal deficits and biomechanical alterations caused by neuropathy. It also describes the potential benefits of foot and ankle exercises for any diabetic patient that is not undergoing the plantar ulcer healing process. We concentrate on the prevention of the long-term deficits of neuropathy. We also discuss the main strategies and protocols of therapeutic exercises for joints and muscles with deficits, which are applicable to all diabetic patients with mild to moderate neuropathy. We describe further efforts in exploiting the applicability of assistive technologies to improve the adherence to an exercise program. Following the contemporary trends towards self-monitoring and self-care, we developed a software to monitor and promote personalized exercises with the aim of improving autonomous performance in daily living tasks. Initiatives to prevent the complications of functional diabetes are highly recommended before it is too late for the patient and there is no longer an opportunity to reverse the tragic consequences of neuropathy progression. PMID:26452065

  14. 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

  15. 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

  16. Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.

    PubMed

    Naiki, Misako; Ochi, Nobuhiko; Kato, Yusuke S; Purevsuren, Jamiyan; Yamada, Kenichiro; Kimura, Reiko; Fukushi, Daisuke; Hara, Shinya; Yamada, Yasukazu; Kumagai, Toshiyuki; Yamaguchi, Seiji; Wakamatsu, Nobuaki

    2014-05-01

    Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of four α- and four β-subunits that catalyzes the final three steps of mitochondrial β-oxidation of long chain fatty acids. HADHA and HADHB encode the α-subunit and the β-subunit of MTP, respectively. To date, only two cases with MTP deficiency have been reported to be associated with hypoparathyroidism and peripheral polyneuropathy. Here, we report on two siblings with autosomal recessive infantile onset hypoparathyroidism, peripheral polyneuropathy, and rhabdomyolysis. Sequence analysis of HADHA and HADHB in both siblings shows that they were homozygous for a mutation in exon 14 of HADHB (c.1175C>T, [p.A392V]) and the parents were heterozygous for the mutation. Biochemical analysis revealed that the patients had MTP deficiency. Structural analysis indicated that the A392V mutation identified in this study and the N389D mutation previously reported to be associated with hypoparathyroidism are both located near the active site of MTP and affect the conformation of the β-subunit. Thus, the present patients are the second and third cases of MTP deficiency associated with missense HADHB mutation and infantile onset hypoparathyroidism. Since MTP deficiency is a treatable disease, MTP deficiency should be considered when patients have hypoparathyroidism as the initial presenting feature in infancy.

  17. n-hexane polyneuropathy in Japan: a review of n-hexane poisoning and its preventive measures.

    PubMed

    Takeuchi, Y

    1993-07-01

    n-Hexane is used in industry as a solvent for adhesive, dry cleaning, and vegetable oil extraction. In 1963, the first case of severe polyneuropathy suspected to be caused by n-hexane was referred to us. Case studies, animal experiments, and field surveys on n-hexane poisoning were conducted, and preventive measures like threshold limit value revision and biological monitoring were also studied. I review a brief history of our investigations on n-hexane poisoning and its preventive measures in Japan. n-Hexane could cause overt polyneuropathy in workers exposed to more than 100 ppm time-weighted average concentrations [TWA]. The present threshold limit value of 40 ppm in Japan is considered low enough to prevent subclinical impairment of peripheral nerve caused by n-hexane. Urinary 2,5-hexanedione could be a good indicator for biological monitoring of n-hexane exposure. About 2.2 mg/liter of 2,5-hexanedione measured by our improved method corresponds to exposure of 40 ppm (TWA) of n-hexane.

  18. [Successful treatment with acyclovir and a corticosteroid for lower cranial polyneuropathy in zoster sine herpete: a case report].

    PubMed

    Taniguchi, Daisuke; Nakahara Ph D, Toshiki; Nakajima, Sho; Nakazato, Tomoko; Mikasa, Michitaka; Furukawa Ph D, Yoshiaki

    2015-01-01

    A 62-year-old woman developed meningitis as well as acute paralysis of glossopharyngeal, vagus, and accessory nerves on the right side and also had dysfunction of the left hypoglossal nerve. Although there was no evidence of a typical cutaneous or mucosal herpetic lesion, PCR detection of varicella zoster virus (VZV)-DNA in cerebrospinal fluid confirmed the clinical diagnosis of polyneuritis cranialis due to VZV infection and zoster sine herpete. After starting intravenous acyclovir and methylprednisolone, her hypoglossal nerve palsy disappeared within a day and all other symptoms and signs dramatically improved. A rapid improvement observed in our patient suggests that the right cranial polyneuropathy could be caused by inflammation associated with epineurial edema (where the ninth, tenth, and eleventh cranial nerves pass through the right jugular foramen), whereas the exact mechanism of the twelfth cranial nerve involvement on the contralateral side is unknown. Our clinical findings indicate that acute lower cranial polyneuropathy in patients with zoster sine herpete should be treated immediately with combined administration of acyclovir and an anti-inflammatory corticosteroid. PMID:26511031

  19. Anti-neuroblastoma cell line antibodies in inflammatory demyelinating polyneuropathy: inhibition in vitro and in vivo by IV immunoglobulin.

    PubMed

    van Doorn, P A; Brand, A; Vermeulen, M

    1988-10-01

    We tested serum from 48 patients with Guillain-Barré syndrome and 42 with chronic inflammatory demyelinating polyneuropathy (CIDP) against a selected neuroblastoma cell line (NBL 108cc15). Forty-two percent of the patients showed a positive immunofluorescence test against the NBL 108cc15. These antibodies were mainly of the IgM-class; they disappeared in all seven CIDP patients retested after improvement following intravenous IgG treatment (IV-IgG) and were present in only 5% of serum from patients with other disorders. Absorption studies showed a partial homology between the NBL 108cc15 and human sciatic nerve. In vitro studies showed that IgG from pooled normal donors (IV-IgG) inhibits the reaction between serum from a CIDP patient and the NBL cell line. This inhibition may be due to neutralization of autoantibodies against nervous tissue by anti-idiotypic antibodies in IV-IgG.

  20. On the mechanism of high-dose intravenous immunoglobulin treatment of patients with chronic inflammatory demyelinating polyneuropathy.

    PubMed

    van Doorn, P A; Rossi, F; Brand, A; van Lint, M; Vermeulen, M; Kazatchkine, M D

    1990-01-01

    A proportion of patients with a chronic inflammatory demyelinating polyneuropathy (CIDP) improves after polyvalent intravenous immunoglobulin (IVIg) treatment. When anti-neuroblastoma cell line (NBL) antibodies are present, they decrease or disappear after IVIg treatment. Purified IgM anti-NBL antibodies from a CIDP patient were inhibited by F(ab')2 of IVIg and by F(ab')2 of a patient recovered from Guillain-Barré syndrome (GBS). Inhibition of anti-NBL antibodies was also found among sera from normal individuals. This suggests that the self-limiting character of GBS and the therapeutic effect of IVIg in CIDP are dependent on suppression of auto-antibodies. This suppression may be mediated by anti-idiotypes present in recovered GBS patients and in the normal donor population contributing to IVIg.

  1. 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.

  2. 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. PMID:27066579

  3. 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

  4. 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

  5. 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.

  6. 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

  7. Small Nerve Fiber Quantification in the Diagnosis of Diabetic Sensorimotor Polyneuropathy: Comparing Corneal Confocal Microscopy With Intraepidermal Nerve Fiber Density

    PubMed Central

    Chen, Xin; Graham, Jim; Dabbah, Mohammad A.; Petropoulos, Ioannis N.; Ponirakis, Georgios; Asghar, Omar; Alam, Uazman; Marshall, Andrew; Fadavi, Hassan; Ferdousi, Maryam; Azmi, Shazli; Tavakoli, Mitra; Efron, Nathan; Jeziorska, Maria

    2015-01-01

    OBJECTIVE Quantitative assessment of small fiber damage is key to the early diagnosis and assessment of progression or regression of diabetic sensorimotor polyneuropathy (DSPN). Intraepidermal nerve fiber density (IENFD) is the current gold standard, but corneal confocal microscopy (CCM), an in vivo ophthalmic imaging modality, has the potential to be a noninvasive and objective image biomarker for identifying small fiber damage. The purpose of this study was to determine the diagnostic performance of CCM and IENFD by using the current guidelines as the reference standard. RESEARCH DESIGN AND METHODS Eighty-nine subjects (26 control subjects and 63 patients with type 1 diabetes), with and without DSPN, underwent a detailed assessment of neuropathy, including CCM and skin biopsy. RESULTS Manual and automated corneal nerve fiber density (CNFD) (P < 0.0001), branch density (CNBD) (P < 0.0001) and length (CNFL) (P < 0.0001), and IENFD (P < 0.001) were significantly reduced in patients with diabetes with DSPN compared with control subjects. The area under the receiver operating characteristic curve for identifying DSPN was 0.82 for manual CNFD, 0.80 for automated CNFD, and 0.66 for IENFD, which did not differ significantly (P = 0.14). CONCLUSIONS This study shows comparable diagnostic efficiency between CCM and IENFD, providing further support for the clinical utility of CCM as a surrogate end point for DSPN. PMID:25795415

  8. Potential treatment of transthyretin-type amyloidoses by sulfite.

    PubMed

    Altland, K; Winter, P

    1999-09-01

    Familial amyloidotic polyneuropathy (FAP) and senile systemic amyloidosis (SSA) are characterized by systemic extracellular deposition of insoluble transthyretin (TTR) fibrils. While only normal TTR is found in fibrils from SSA patients who predominantly suffer from cardiomyopathy, autosomal dominant FAP preferentially affects peripheral nerves and heart and is associated with so-called amyloidogenic mutations of this protein, giving rise to TTR forms of decreased stability. Using isoelectric focusing in urea gradients we were able to demonstrate a stabilizing effect of sulfite on TTR monomers and tetramers, as well as an increase in the tetramer/monomer ratio. We demonstrate that this ratio, which is decreased in FAP patients, can be increased to beyond normal levels. We show that doses of sulfite which are tolerable in vivo produce a significant increase in the tetramer/monomer ratio and postulate that sulfite may be a potent drug for delaying the onset and progress of FAP and SSA.

  9. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation

    PubMed Central

    Tétreault, Martine; Gonzalez, Michael; Dicaire, Marie-Josée; Allard, Pierre; Gehring, Kalle; Leblanc, Diane; Leclerc, Nadine; Schondorf, Ronald; Mathieu, Jean; Zuchner, Stephan

    2015-01-01

    Late-onset painful sensory neuropathies are usually acquired conditions associated with common diseases. Adult presentations of known hereditary forms are often accompanied by other organ involvement. We recruited a large French-Canadian family with a dominantly inherited late-onset painful sensory neuropathy. The main clinical feature is recurrent leg pain that progresses to constant painful paraesthesias in the feet and later the hands. As it evolves, some patients develop a mild sensory ataxia. We selected four affected individuals for whole exome sequencing. Analysis of rare variants shared by all cases led to a list of four candidate variants. Segregation analysis in all 45 recruited individuals has shown that only the p.Ile403Thr variant in the α-N-acetyl-glucosaminidase (NAGLU) gene segregates with the disease. Recessive NAGLU mutations cause the severe childhood lysosomal disease mucopolysacharidosis IIIB. Family members carrying the mutation showed a significant decrease of the enzymatic function (average 45%). The late-onset and variable severity of the symptoms may have precluded the description of such symptoms in parents of mucopolysaccharidosis IIIB cases. The identification of a dominant phenotype associated with a NAGLU mutation supports that some carriers of lysosomal enzyme mutations may develop later in life much milder phenotypes. PMID:25818867

  10. Double-blind, placebo-controlled study of the application of capsaicin cream in chronic distal painful polyneuropathy.

    PubMed

    Low, P A; Opfer-Gehrking, T L; Dyck, P J; Litchy, W J; O'Brien, P C

    1995-08-01

    We have completed a 12-week double-blind, placebo-controlled randomized study on the efficacy of the application of capsaicin (CAPS) cream (0.075%) in the treatment of chronic distal painful polyneuropathy. Forty patients were enrolled and 39 completed the study. The 2 limbs were randomly assigned to CAPS or placebo (PLAC). The cream was applied 4 times a day. The first tube contained the active PLAC, methyl nicotinate. In the final 4 weeks (single-blind wash-out phase), PLAC was administered bilaterally. Efficacy was evaluated using the following scales: (1) investigator global, (2) patient global, (3) visual analog (VAS) of pain severity, (4) VAS of pain relief, (5) activities of daily living, and (6) allodynia. Patients were examined at onset and at monthly intervals using a neurologic disability scale, nerve conduction studies, computer-assisted sensory examination for vibration and thermal cooling and warming, QSART (quantitative sudomotor axon reflex test) and quantitative flare response. There was no statistical evidence of efficacy of CAPS cream over PLAC for any of the pain indices. At early time points (1-4 weeks), there were a small number of indices that favored the PLAC. The percent of limbs that improved on the investigator's global scale were 51.3 vs. 53.8 at 4 weeks, 56.4 vs. 64.1 at 8 weeks and 59 vs. 66.7 at 12 weeks for CAPS vs. PLAC; no statistically significant difference was found. All the safety indices showed no difference between sides. We interpret the early hyperalgesia on the CAPS side as being responsible for the better performance of PLAC at early time points. The large percentage of limbs that improved may be a pronounced PLAC response.

  11. 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. PMID:23610977

  12. Conducting processes in simulated chronic inflammatory demyelinating polyneuropathy at 20°C-42°C.

    PubMed

    Stephanova, D I; Daskalova, M; Mladenov, M

    2015-03-01

    Decreased conducting processes leading usually to conduction block and increased weakness of limbs during cold (cold paresis) or warmth (heat paresis) have been reported in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). To explore the mechanisms of these symptoms, the effects of temperature (from 20°C to 42°C) on nodal action potentials and their current kinetics in previously simulated case of 70% CIDP are investigated, using our temperature dependent multi-layered model of the myelinated human motor nerve fiber. The results show that potential amplitudes have a bifid form at 20°C. As in the normal case, for the CIDP case, the nodal action potentials are determined mainly by the nodal sodium currents (I Na ) for the temperature range of 20-39°C, as the contribution of nodal fast and slow potassium currents (I Kf and I Ks ) to the total ionic current (Ii) is negligible. Also, the contribution of I Kf and I Ks to the membrane repolarization is enhanced at temperatures higher than 39°C. However, in the temperature range of 20-42°C, all potential parameters in the CIDP case, except for the conduction block during hyperthermia (≥ 40°C) which is again at 45°C, worsen: (i) conduction velocities and potential amplitudes are decreased; (ii) afterpotentials and threshold stimulus currents for the potential generation are increased; (iii) the current kinetics of action potentials is slowed and (iv) the conduction block during hypothermia (≤ 25°C) is at temperatures lower than 20°C. These potential parameters are more altered during hyperthermia and are most altered during hypothermia. The present results suggest that the conducting processes in patients with CIDP are in higher risk during hypothermia than hyperthermia. PMID:25597276

  13. 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

  14. [Chronic inflammatory demyelinating polyneuropathy associated with chronic liver disease due to type B and type C hepatitis virus].

    PubMed

    Ohyama, T; Okiyama, R; Yamada, M; Mitani, M; Tamaki, M; Endo, M; Kubo, M

    1995-02-01

    A patient with chronic inflammatory demyelinating polyneuropathy (CIDP) associated with type B and type C hepatitis virus infection is reported. A 54-year-old female who had a blood transfusion at the age of 31 years was diagnosed as a carrier of hepatitis B virus at the age of 43. Liver dysfunction was first noted in 1987 and gradually grew worse year by year. Beginning in early June 1992, the patients general fatigue became worse, her serum GOT and GPT levels became elevated, and she complained of a tingling sensation in her arms and legs. Neurological examination revealed moderate sensory disturbance of the glove-and-stocking type in all of her extremities. Deep tendon reflexes were all diminished. Hepatitis C antibody was detected in the serum at this time. On June 12, 1993, progression of her sensory disturbance was found to be associated with generalized muscle weakness. Cerebrospinal fluid studies showed increased protein without pleocytosis. Motor nerve conduction studies revealed marked prolongation of terminal latencies, reduction of conduction velocities, and abnormal temporal dispersion of the motor potentials. No sensory potentials could be evoked at any of the sites stimulated. Sural nerve biopsy showed segmental demyelination and severe loss of large myelinated fibers as well as some onion bulb formation. A diagnosis of CIDP was made. Treatment with corticosteroids was started, but there was little improvement in neurological function. The liver dysfunction progressed further and ultimately the patient died of hepatic failure. An autopsy demonstrated liver cirrhosis, but no malignant tumors were evident.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7669415

  15. 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

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

    PubMed

    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

  17. The antiallodynic action of nortriptyline and terbutaline is mediated by β(2) adrenoceptors and δ opioid receptors in the ob/ob model of diabetic polyneuropathy.

    PubMed

    Choucair-Jaafar, Nada; Salvat, Eric; Freund-Mercier, Marie-José; Barrot, Michel

    2014-02-10

    Peripheral polyneuropathy is a frequent complication of diabetes. One of its consequences is neuropathic pain which is often chronic and difficult to treat. This pain management classically involves anticonvulsant drugs or tricyclic antidepressant drugs (TCA). We have previously shown that β2 adrenoceptors and δ opioid receptors are critical for TCA action in a traumatic model of neuropathic pain. In the present work, we used the obese leptin deficient mice (ob/ob) which are a genetic model of type 2 diabetes in order to study the treatment of diabetic polyneuropathy. ob/ob mice with hyperglycemia develop tactile bilateral allodynia. We investigated the action of the TCA nortriptyline and the β2 adrenoceptor agonist terbutaline on this neuropathic allodynia. The consequences of acute and chronic treatments were tested, and mechanical allodynia was assessed by using von Frey hairs. Chronic but not acute treatment with nortriptyline alleviates allodynia caused by the diabetic neuropathy. This effect depends on β2 adrenoceptors but not on α2 adrenoceptors, as shown by the blockade with repeated co-administration of the β2 adrenoceptor antagonist ICI118551 but not with repeated co-administration of the α2 adrenoceptor antagonist yohimbine. Direct stimulation of β2 adrenoceptors appears sufficient to relieve allodynia, as shown with chronic terbutaline treatment. δ but not mu opioid receptors seem important to these action since acute naltrindole, but not acute naloxonazine, reverses the effect of chronic nortriptyline or terbutaline treatment.

  18. Reproducibility of In Vivo Corneal Confocal Microscopy Using an Automated Analysis Program for Detection of Diabetic Sensorimotor Polyneuropathy

    PubMed Central

    Ostrovski, Ilia; Lovblom, Leif E.; Farooqi, Mohammed A.; Scarr, Daniel; Boulet, Genevieve; Hertz, Paul; Wu, Tong; Halpern, Elise M.; Ngo, Mylan; Ng, Eduardo; Orszag, Andrej; Bril, Vera; Perkins, Bruce A.

    2015-01-01

    Objective In vivo Corneal Confocal Microscopy (IVCCM) is a validated, non-invasive test for diabetic sensorimotor polyneuropathy (DSP) detection, but its utility is limited by the image analysis time and expertise required. We aimed to determine the inter- and intra-observer reproducibility of a novel automated analysis program compared to manual analysis. Methods In a cross-sectional diagnostic study, 20 non-diabetes controls (mean age 41.4±17.3y, HbA1c 5.5±0.4%) and 26 participants with type 1 diabetes (42.8±16.9y, 8.0±1.9%) underwent two separate IVCCM examinations by one observer and a third by an independent observer. Along with nerve density and branch density, corneal nerve fibre length (CNFL) was obtained by manual analysis (CNFLMANUAL), a protocol in which images were manually selected for automated analysis (CNFLSEMI-AUTOMATED), and one in which selection and analysis were performed electronically (CNFLFULLY-AUTOMATED). Reproducibility of each protocol was determined using intraclass correlation coefficients (ICC) and, as a secondary objective, the method of Bland and Altman was used to explore agreement between protocols. Results Mean CNFLManual was 16.7±4.0, 13.9±4.2 mm/mm2 for non-diabetes controls and diabetes participants, while CNFLSemi-Automated was 10.2±3.3, 8.6±3.0 mm/mm2 and CNFLFully-Automated was 12.5±2.8, 10.9 ± 2.9 mm/mm2. Inter-observer ICC and 95% confidence intervals (95%CI) were 0.73(0.56, 0.84), 0.75(0.59, 0.85), and 0.78(0.63, 0.87), respectively (p = NS for all comparisons). Intra-observer ICC and 95%CI were 0.72(0.55, 0.83), 0.74(0.57, 0.85), and 0.84(0.73, 0.91), respectively (p<0.05 for CNFLFully-Automated compared to others). The other IVCCM parameters had substantially lower ICC compared to those for CNFL. CNFLSemi-Automated and CNFLFully-Automated underestimated CNFLManual by mean and 95%CI of 35.1(-4.5, 67.5)% and 21.0(-21.6, 46.1)%, respectively. Conclusions Despite an apparent measurement (underestimation) bias in

  19. 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

  20. Family Meals

    MedlinePlus

    ... Story" 5 Things to Know About Zika & Pregnancy Family Meals KidsHealth > For Parents > Family Meals Print A ... even more important as kids get older. Making Family Meals Happen It can be a big challenge ...

  1. 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 ...

  2. 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 ...

  3. A novel XK gene mutation in a Taiwanese family with McLeod syndrome.

    PubMed

    Chen, Pei-Yun; Lai, Szu-Chia; Yang, Chih-Chao; Lee, Ming-Jen; Chiu, Yen-Hui; Yan, Sui-Hing; Lu, Chin-Song; Yeh, Tu-Hsueh

    2014-05-15

    McLeod syndrome is one subtype of rare neuroacanthocytosis syndromes characterized by misshapen red blood cells and progressive degeneration of the basal ganglia. It is an X-linked recessive disorder with mutation in the XK gene of the Kell blood group system with multisystem involvements. Concerning the movement disorders, its dyskinesias are various and difficult to differentiate from those in Huntington's disease or other hyperkinetic movement disorders. In this report, we described a 62-year-old male patient presenting with insidious myalgia and muscle fatigue. Progressive motor restlessness and toes choreoathetosis were noted. Previously, he had chronic psychotic disorder with irregular treatment for 14 years. The laboratory tests revealed elevated creatine phosphokinase and acanthocytes (36.3%). The electrophysiological test demonstrated an axonal type polyneuropathy. The neuroimaging of brain showed striatal degeneration. Genetic analysis revealed a nonsense hemizygous mutation c.154C>T (p.Gln52X) at exon 1 of XK gene. The genetic counseling of his family revealed one elder brother carrying the same mutation and showing a similar but very mild syndrome. Several offspring were the asymptomatic carriers. We suggest that for a patient with multiple system disorders including dyskinetic movement disorders, psychiatric symptoms, polyneuropathy, and elevated CPK, a genetic test for XK gene mutation is highly indicated to confirm the McLeod syndrome and to guide the possible therapy.

  4. 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…

  5. Family Literacy.

    ERIC Educational Resources Information Center

    Washington, Charles W., Ed.

    1996-01-01

    This newsletter theme issue focuses on the impact of learning disabilities within families, specifically families with low literacy skills. It explores the effectiveness of family literacy programs, examines the connection between the field of family literacy and learning disabilities (LD), and offers suggestions on how to work with students with…

  6. Asteroid families

    NASA Technical Reports Server (NTRS)

    Williams, James G.

    1991-01-01

    More than 100 asteroid families are presented in Williams. Several examples of cratering events are known including family numbers 150, 162, 169, and 189. These are recognizable as many small fragments adjacent to and to one side (in three dimensions) of a much larger cratered body. Family numbers 138 and 140 are adjacent in proper element space. In population they are an intermediate step between the long recognizable families and the more frequent less populated families. Family number 164 is the fifth most populous family in the belt. All members are faint and nothing is known of the physical properties.

  7. 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…

  8. Cancer, Families, and Family Counselors.

    ERIC Educational Resources Information Center

    Duffy, Maureen; Gillig, Scott

    2003-01-01

    Examines the role of the family counselor in working with cancer patients and their families. Suggests ways in which the family counselor can work proactively with families in the area of cancer prevention and helping them cope more effectively with its impact on their lives. Uses a clinical case example to illustrate intervention with cancer…

  9. 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

  10. Familial gigantism.

    PubMed

    Herder, Wouter W de

    2012-01-01

    Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas. PMID:22584702

  11. 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 1990s" (James Knoll);…

  12. Rural Families.

    ERIC Educational Resources Information Center

    Goetz, Kathy, Ed.

    1992-01-01

    This "special focus" journal issue consists of 13 individual articles on the theme of rural family programs relating to school, health services, church, and other institutions. It includes: (1) "Towards a Rural Family Policy" (Judith K. Chynoweth and Michael D. Campbell); (2) "Montana: Council for Families Collaborates for Prevention (Jean…

  13. The Flavonoid Luteolin, but Not Luteolin-7-O-Glucoside, Prevents a Transthyretin Mediated Toxic Response

    PubMed Central

    Pokrzywa, Malgorzata; Walfridsson, Malin; Sauer-Eriksson, A. Elisabeth; Olofsson, Anders

    2015-01-01

    Transthyretin (TTR) is a homotetrameric plasma protein with amyloidogenic properties that has been linked to the development of familial amyloidotic polyneuropathy (FAP), familial amyloidotic cardiomyopathy, and senile systemic amyloidosis. The in vivo role of TTR is associated with transport of thyroxine hormone T4 and retinol-binding protein. Loss of the tetrameric integrity of TTR is a rate-limiting step in the process of TTR amyloid formation, and ligands with the ability to bind within the thyroxin binding site (TBS) can stabilize the tetramer, a feature that is currently used as a therapeutic approach for FAP. Several different flavonoids have recently been identified that impair amyloid formation. The flavonoid luteolin shows therapeutic potential with low incidence of unwanted side effects. In this work, we show that luteolin effectively attenuates the cytotoxic response to TTR in cultured neuronal cells and rescues the phenotype of a Drosophila melanogaster model of FAP. The plant-derived luteolin analogue cynaroside has a glucoside group in position 7 of the flavone A-ring and as opposed to luteolin is unable to stabilize TTR tetramers and thus prevents a cytotoxic effect. We generated high-resolution crystal-structures of both TTR wild type and the amyloidogenic mutant V30M in complex with luteolin. The results show that the A-ring of luteolin, in contrast to what was previously suggested, is buried within the TBS, consequently explaining the lack of activity from cynaroside. The flavonoids represent an interesting group of drug candidates for TTR amyloidosis. The present investigation shows the potential of luteolin as a stabilizer of TTR in vivo. We also show an alternative orientation of luteolin within the TBS which could represent a general mode of binding of flavonoids to TTR and is of importance concerning the future design of tetramer stabilizing drugs. PMID:26020516

  14. The flavonoid luteolin, but not luteolin-7-O-glucoside, prevents a transthyretin mediated toxic response.

    PubMed

    Iakovleva, Irina; Begum, Afshan; Pokrzywa, Malgorzata; Walfridsson, Malin; Sauer-Eriksson, A Elisabeth; Olofsson, Anders

    2015-01-01

    Transthyretin (TTR) is a homotetrameric plasma protein with amyloidogenic properties that has been linked to the development of familial amyloidotic polyneuropathy (FAP), familial amyloidotic cardiomyopathy, and senile systemic amyloidosis. The in vivo role of TTR is associated with transport of thyroxine hormone T4 and retinol-binding protein. Loss of the tetrameric integrity of TTR is a rate-limiting step in the process of TTR amyloid formation, and ligands with the ability to bind within the thyroxin binding site (TBS) can stabilize the tetramer, a feature that is currently used as a therapeutic approach for FAP. Several different flavonoids have recently been identified that impair amyloid formation. The flavonoid luteolin shows therapeutic potential with low incidence of unwanted side effects. In this work, we show that luteolin effectively attenuates the cytotoxic response to TTR in cultured neuronal cells and rescues the phenotype of a Drosophila melanogaster model of FAP. The plant-derived luteolin analogue cynaroside has a glucoside group in position 7 of the flavone A-ring and as opposed to luteolin is unable to stabilize TTR tetramers and thus prevents a cytotoxic effect. We generated high-resolution crystal-structures of both TTR wild type and the amyloidogenic mutant V30M in complex with luteolin. The results show that the A-ring of luteolin, in contrast to what was previously suggested, is buried within the TBS, consequently explaining the lack of activity from cynaroside. The flavonoids represent an interesting group of drug candidates for TTR amyloidosis. The present investigation shows the potential of luteolin as a stabilizer of TTR in vivo. We also show an alternative orientation of luteolin within the TBS which could represent a general mode of binding of flavonoids to TTR and is of importance concerning the future design of tetramer stabilizing drugs. PMID:26020516

  15. A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1).

    PubMed

    Wiedmer, Michaela; Oevermann, Anna; Borer-Germann, Stephanie E; Gorgas, Daniela; Shelton, G Diane; Drögemüller, Michaela; Jagannathan, Vidhya; Henke, Diana; Leeb, Tosso

    2015-11-23

    We observed a hereditary phenotype in Alaskan Huskies that was characterized by polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV). The affected dogs developed a progressive severe ataxia, which led to euthanasia between 8 and 16 months of age. The pedigrees were consistent with a monogenic autosomal recessive inheritance. We localized the causative genetic defect to a 4 Mb interval on chromosome 19 by a combined linkage and homozygosity mapping approach. Whole genome sequencing of one affected dog, an obligate carrier, and an unrelated control revealed a 218-bp SINE insertion into exon 7 of the RAB3GAP1 gene. The SINE insertion was perfectly associated with the disease phenotype in a cohort of 43 Alaskan Huskies, and it was absent from 541 control dogs of diverse other breeds. The SINE insertion induced aberrant splicing and led to a transcript with a greatly altered exon 7. RAB3GAP1 loss-of-function variants in humans cause Warburg Micro Syndrome 1 (WARBM1), which is characterized by additional developmental defects compared to canine POANV, whereas Rab3gap1-deficient mice have a much milder phenotype than either humans or dogs. Thus, the RAB3GAP1 mutant Alaskan Huskies provide an interesting intermediate phenotype that may help to better understand the function of RAB3GAP1 in development. Furthermore, the identification of the presumed causative genetic variant will enable genetic testing to avoid the nonintentional breeding of affected dogs.

  16. [Prevalence of diabetic retinopathy and distal symmetrical diabetic polyneuropathy, and glomerular filtration screening upon the diagnosis of type 2 diabetes mellitus - a cohort study].

    PubMed

    Buková, L; Galajda, P; Mokáň, M

    2013-11-01

    The prospective cohort study analyzes the prevalence of microvascular complications at the time of dia-gnosis type 2 diabetes (DM 2). We were monitoring 200 outpatients (117 men and 83 women, aged from 30 to 92 years) with newly diagnosed and previously untreated type 2 diabetes mellitus during the period of August 2007 -  August 2011 accidentally sending GP or internists. Prevalence of diabetic retinopathy in men was 0.85% and in women 1.2%. The prevalence of diabetic distal symetric polyneuropathy in men was 53% and in women 62%. The median of glomerular filtration based on a simplified MDRD 4 equation (according to the study Modification of Diet in Renal Disease) was 1.27 ± 0.6 ml/ s/ 1.73 m2 for men and 1.05 ± 0.32 ml/ s/ 1.73 m2 for women. At baseline, 16.6% of men and 46.2% of women enrolled in our cohort study had glomerular filtration rate < 1 ml/ s/ 1.73 m2. PMID:24279438

  17. A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1).

    PubMed

    Wiedmer, Michaela; Oevermann, Anna; Borer-Germann, Stephanie E; Gorgas, Daniela; Shelton, G Diane; Drögemüller, Michaela; Jagannathan, Vidhya; Henke, Diana; Leeb, Tosso

    2016-02-01

    We observed a hereditary phenotype in Alaskan Huskies that was characterized by polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV). The affected dogs developed a progressive severe ataxia, which led to euthanasia between 8 and 16 months of age. The pedigrees were consistent with a monogenic autosomal recessive inheritance. We localized the causative genetic defect to a 4 Mb interval on chromosome 19 by a combined linkage and homozygosity mapping approach. Whole genome sequencing of one affected dog, an obligate carrier, and an unrelated control revealed a 218-bp SINE insertion into exon 7 of the RAB3GAP1 gene. The SINE insertion was perfectly associated with the disease phenotype in a cohort of 43 Alaskan Huskies, and it was absent from 541 control dogs of diverse other breeds. The SINE insertion induced aberrant splicing and led to a transcript with a greatly altered exon 7. RAB3GAP1 loss-of-function variants in humans cause Warburg Micro Syndrome 1 (WARBM1), which is characterized by additional developmental defects compared to canine POANV, whereas Rab3gap1-deficient mice have a much milder phenotype than either humans or dogs. Thus, the RAB3GAP1 mutant Alaskan Huskies provide an interesting intermediate phenotype that may help to better understand the function of RAB3GAP1 in development. Furthermore, the identification of the presumed causative genetic variant will enable genetic testing to avoid the nonintentional breeding of affected dogs. PMID:26596647

  18. 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.

  19. A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1)

    PubMed Central

    Wiedmer, Michaela; Oevermann, Anna; Borer-Germann, Stephanie E.; Gorgas, Daniela; Shelton, G. Diane; Drögemüller, Michaela; Jagannathan, Vidhya; Henke, Diana; Leeb, Tosso

    2015-01-01

    We observed a hereditary phenotype in Alaskan Huskies that was characterized by polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV). The affected dogs developed a progressive severe ataxia, which led to euthanasia between 8 and 16 months of age. The pedigrees were consistent with a monogenic autosomal recessive inheritance. We localized the causative genetic defect to a 4 Mb interval on chromosome 19 by a combined linkage and homozygosity mapping approach. Whole genome sequencing of one affected dog, an obligate carrier, and an unrelated control revealed a 218-bp SINE insertion into exon 7 of the RAB3GAP1 gene. The SINE insertion was perfectly associated with the disease phenotype in a cohort of 43 Alaskan Huskies, and it was absent from 541 control dogs of diverse other breeds. The SINE insertion induced aberrant splicing and led to a transcript with a greatly altered exon 7. RAB3GAP1 loss-of-function variants in humans cause Warburg Micro Syndrome 1 (WARBM1), which is characterized by additional developmental defects compared to canine POANV, whereas Rab3gap1-deficient mice have a much milder phenotype than either humans or dogs. Thus, the RAB3GAP1 mutant Alaskan Huskies provide an interesting intermediate phenotype that may help to better understand the function of RAB3GAP1 in development. Furthermore, the identification of the presumed causative genetic variant will enable genetic testing to avoid the nonintentional breeding of affected dogs. PMID:26596647

  20. 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)

  1. 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…

  2. 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 Disability: A…

  3. 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…

  4. 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...

  5. FAMILY EMPIDIDAE.

    PubMed

    Rafael, José Albertino; Câmara, Josenir Teixeira

    2016-01-01

    Empididae is one of the biggest families of Diptera with around 3,000 known species. The family is poorly known in Colombia, with only six species reported and this work provides information on their distribution. No endemic genera or species have been recorded to date from Colombia. PMID:27395282

  6. 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

  7. Family Theory and Family Health Research

    PubMed Central

    Doherty, William J.

    1991-01-01

    Different family theories can be applied to different aspects of how families experience health and illness. The family health and illness cycle describes the phases of a family's experience, beginning with health promotion and risk reduction, then family vulnerability and disease onset or relapse, family illness appraisal, family acute response, and finally family adaptation to illness and recovery. For each phase, specific family theories that are most appropriate for guiding family and health research are discussed. PMID:21229056

  8. 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…

  9. 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.

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

    PubMed

    Kurt, Semiha; Cevik, Betul; Aksoy, Durdane; Sahbaz, E Irmak; Gundogdu Eken, Aslı; 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

  11. 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

  12. Family Issues

    MedlinePlus

    ... not mean that everyone gets along all the time. Conflicts are a part of family life. Many things can lead to conflict, such as illness, disability, addiction, job loss, school problems, and marital issues. Listening to ...

  13. 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. PMID:15819999

  14. Familial hypercholesterolemia

    MedlinePlus

    A diet low in cholesterol and saturated fat and rich in unsaturated fat may help to control your LDL level. People with a family history of this condition, particularly if both parents carry the defective ...

  15. Tomorrow's Family

    ERIC Educational Resources Information Center

    Pickett, Robert S.

    1977-01-01

    Author states that "...the traditional form of family which has been the norm in recent times in the West will persist, but will be forced to "move over" to accommodate other forms of domestic life." (Author)

  16. FAMILY PIOPHILIDAE.

    PubMed

    Wolff, Marta; Pérez, Sandra; Grisales, Diana

    2016-01-01

    Piophilidae is a little family poorly known in Colombia, with only Piophila casei (L.) and Stearibia nigriceps Meigen reported so far. This catalogue expands the distribution of these species to other localities in the country. PMID:27395294

  17. FAMILY BIBIONIDAE.

    PubMed

    Falaschi, Rafaela Lopes; Oliveira, Sarah Siqueira; Amorim, Dalton De Souza

    2016-06-14

    The Bibionidae are a family belonging to the suborder Bibionomorpha with four genera and 17 species known from Colombia. This work expands the distribution of these species to other localities in the country.

  18. FAMILY RHAGIONIDAE.

    PubMed

    Santos, Charles Morphy D; Carmo, Daniel D D

    2016-01-01

    The family Rhagionidae is one of the oldest Brachyeran lineages. Its monophyly is still uncertain. There are four rhagionid genera distributed in Neotropical Region but only three species of Chrysopilus are found in Colombia. PMID:27395270

  19. FAMILY PLATYSTOMATIDAE.

    PubMed

    Wendt, Lisiane Dilli

    2016-01-01

    Platystomatidae (Signal Flies) are one of the largest families of Tephritoidea, with about 1200 species and four subfamilies, worldwide distributed. However, Platystomatidae are not well represented in the New World, and in the Neotropical Region only four genera and 26 species, belonging to Platystomatinae, are recorded. The family is a group understudied in Colombia and only one species is recorded to the country. PMID:27395295

  20. 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.

  1. 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. PMID:22906171

  2. FAMILY HYBOTIDAE.

    PubMed

    Ale-Rocha, Rosaly; De Freitas-Silva, Rafael Augusto Pinheiro

    2016-01-01

    Hybotidae is a diverse family of the order Diptera, suborder Brachycera, superfamily Empidoidea. Hybotid flies are generally yellow to black, are morphologically diverse, and are distributed worldwide. The monophyly of the family is based on: palpifer and fore tibial gland present, laterotergite bare and R4+5 unbranched. Hybotids are mainly predators and are usually found on the vegetation, logs and other surfaces, or in flight during displacement and forage. This catalogue, based on the study of specimens and available literature records, summarizes and updates the information on the Colombian fauna of Hybotidae, which includes 19 species distributed in six genera. PMID:27395283

  3. Familial leukemias.

    PubMed

    Wiernik, Peter H

    2015-02-01

    Familial leukemia has been described for more than 50 years but only recently have modern genetic techniques allowed for the investigation of the genome. Genome-wide association studies have identified a number of genetic sites that appear to relate to susceptibility to leukemia in certain families and occasionally to susceptibility to a specific leukemia in general. Many questions remain, including susceptibility to what? An oncogenic virus? An environmental chemical? Mutation of another gene induced by a heritable mutation-promoting gene?.Clinically important facts have been learned. Chronic lymphocytic leukemia (CLL) is by far the most common familial leukemia. Patients with CLL have approximately a 10% chance of a first-degree relative developing CLL, and even a greater chance of one developing monoclonal B-cell lymphocytosis which may be an asymptomatic forme fruste of the neoplasm. Furthermore, there may be an increased incidence of breast cancer in familial CLL pedigrees which raises the question of a common etiology for neoplasms in general, or at least a previously unrecognized relationship among them.

  4. 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)

  5. FAMILY SCIARIDAE.

    PubMed

    Carvalho-Fernandes, Sheila Patrícia

    2016-01-01

    Sciaridae are a widely distributed family with high number of species. They are known as black fungus gnats due to their dark color and feeding activity. This catalogue presents 17 species from Colombia distributed in eight genera, and for each species the geographical distribution is provided.

  6. FAMILY CECIDOMYIIDAE.

    PubMed

    Maia, Valéria Cid

    2016-01-01

    This large family is poorly known in Colombia, where only 44 species have been recorded in 20 genera. All of them are included in Cecidomyiinae, which is the most diverse subfamily of gall midges in number of species and feeding habits, including phytophagous, predaceous and fungivorous species. Most of them are galler. The other subfamilies have never been recorded in this country.

  7. FAMILY SCATHOPHAGIDAE.

    PubMed

    Wolff, Marta; Grisales, Diana; Nihei, Silvio S

    2016-01-01

    Scathophagidae (Diptera, Calyptratae) is an uncommon group of flies. In Colombia there was no scientific record of this family until now. In this paper we report for the first time the genus Scatogera and the species S. primogenita Albuquerque, collected over 3000m. and previously collected in Ecuador. PMID:27395319

  8. Family Caregivers.

    ERIC Educational Resources Information Center

    Frazier, Billie H.

    This document contains a brief bibliography of peer-reviewed literature, with abstracts, on family caregiving. It is one of 12 bibliographies on aging prepared by the National Agricultural Library for its "Pathfinders" series of publications. Topics covered by the other 11 bibliographies include aging parents, adult children, dementia and…

  9. FAMILY SCIARIDAE.

    PubMed

    Carvalho-Fernandes, Sheila Patrícia

    2016-01-01

    Sciaridae are a widely distributed family with high number of species. They are known as black fungus gnats due to their dark color and feeding activity. This catalogue presents 17 species from Colombia distributed in eight genera, and for each species the geographical distribution is provided. PMID:27395255

  10. FAMILY CECIDOMYIIDAE.

    PubMed

    Maia, Valéria Cid

    2016-01-01

    This large family is poorly known in Colombia, where only 44 species have been recorded in 20 genera. All of them are included in Cecidomyiinae, which is the most diverse subfamily of gall midges in number of species and feeding habits, including phytophagous, predaceous and fungivorous species. Most of them are galler. The other subfamilies have never been recorded in this country. PMID:27395254

  11. FAMILY ROPALOMERIDAE.

    PubMed

    Ale-Rocha, Rosaly

    2016-01-01

    Ropalomeridae is a small family with most species distributed in the Neotropical Region, from Mexico to Argentina, and only one Nearctic species. In Colombia, eight species distributed in four genera have been found. This catalogue, based on the study of specimens and available literature records, summarizes and updates the information on the Colombian fauna. PMID:27395300

  12. FAMILY RICHARDIIDAE.

    PubMed

    Wendt, Lisiane Dilli; Ale-Rocha, Rosaly

    2016-01-01

    Richardiidae are a family of "acalyptrate" Diptera represented by ca. 180 species distributed in the New World, mostly in the Neotropical region. The species that occur in Colombia have received little attention from taxonomists, and the great majority of them are known only from their type localities. Currently, 14 genera and 23 species are known to occur in the country. PMID:27395297

  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 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…

  15. FAMILY BOMBYLIIDAE.

    PubMed

    Lamas, Carlos José Einicker; Evenhuis, Neal L

    2016-01-01

    Bombyliidae is one of the largest Diptera families with more than 4,500 recognized species worldwide. Their species vary from robust to thin, and may be small to large (2-20mm) and looks like bees or wasps. They also present great variation in color. Adults can often be seen either resting and sunning themselves on trails, rocks or twigs or feeding on flowering plants as they are nectar feeders. All reared bee flies are predators or parasitoids of arthropods. The Colombian fauna of bombyliids comprises at the moment 22 species, and 12 genera, of which, six are endemic species. Nonetheless, this number may be much higher, as Colombia is a megadiverse country and there are not many specimens of this family deposited in collections all over the world. PMID:27395279

  16. 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

  17. Familial hypercholesterolemia

    PubMed Central

    Turgeon, Ricky D.; Barry, Arden R.; Pearson, Glen J.

    2016-01-01

    Objective To summarize the pathophysiology, epidemiology, screening, diagnosis, and treatment of familial hypercholesterolemia (FH). Quality of evidence A PubMed search was conducted (inception to July 2014) for articles on pathophysiology, screening, diagnosis, and management of FH, supplemented with hand searches of bibliographies of guidelines and reviews. A supporting level of evidence for each recommendation was categorized as level I (randomized controlled trial or systematic review of randomized controlled trials), level II (observational study), or level III (expert opinion). The best available evidence is mostly level II or III. Main message Familial hypercholesterolemia affects 1 in 500 Canadians. Risk of a coronary event is high in these patients and is underestimated by risk calculators (eg, Framingham). Clinicians should screen patients according to guidelines and suspect FH in any patient with a premature cardiovascular event, physical stigmata of hypercholesterolemia, or an elevated plasma lipid level. Physicians should diagnose FH using either the Simon Broome or Dutch Lipid Network criteria. Management of heterozygous FH includes reducing low-density lipoprotein levels by 50% or more from baseline with high-dose statins and other lipid-lowering agents. Clinicians should refer any patient with homozygous FH to a specialized centre. Conclusion Familial hypercholesterolemia represents an important cause of premature cardiovascular disease in Canadians. Early identification and aggressive treatment of individuals with FH reduces cardiovascular morbidity and mortality. PMID:26796832

  18. FAMILY MYCETOPHILIDAE.

    PubMed

    Oliveira, Sarah Siqueira; Amorim, Dalton De Souza

    2016-06-14

    The Mycetophilidae include small fungus-gnats which life cycle is associated with fungi, especially of the larvae. The known diversity of the family in the Neotropical region is 1,145 species, but only some very few papers have been published on the Colombian species of Mycetophilidae, with records for the genera Docosia Winnertz, Paraleia Tonnoir, and Dziedzickia Johannsen. This catalogue gathers the information available on mycetophilids from Colombia, including genera and some species that for the first time are mentioned to occur in the country-as Leiella unicincta Edwards and Leiella zonalis Edwards.

  19. Family and family therapy in the Netherlands.

    PubMed

    Wagenaar, Karin; Baars, Jan

    2012-04-01

    This article describes how families are functioning in the Netherlands, and how family therapy is used in mental healthcare. In the open Dutch society, new ideas are easily incorporated, as exemplified by the rapid introduction and growth of family therapy in the 1980s. In recent decades, however, family therapy has lost ground to other treatment models that are more individually orientated, and adhere to stricter protocols. This decline of family therapy has been exacerbated by recent budget cuts in mental healthcare. In regular healthcare institutes family therapy now has a marginal position at best, although family treatment models are used in specific areas such as forensic treatments. In addition, the higher trained family therapists have found their own niches to work with couples and families. We argue that a stronger position of family therapy would be beneficial for patients and for families, in order to counteract the strong individualization of Dutch society. PMID:22515464

  20. Roles within the Family

    MedlinePlus

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Text Size Email Print Share Roles Within the Family Page Content Article Body Families are not democracies. ...

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

    PubMed

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

    2016-08-31

    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.

  2. Senile cerebral amyloid. Prealbumin as a common constituent in the neuritic plaque, in the neurofibrillary tangle, and in the microangiopathic lesion.

    PubMed Central

    Shirahama, T.; Skinner, M.; Westermark, P.; Rubinow, A.; Cohen, A. S.; Brun, A.; Kemper, T. L.

    1982-01-01

    Three lesions that characterize the nosologic findings in the brain of Alzheimer's presenile dementia and senile dementia of Alzheimer type, ie, neuritic plaque, neurofibrillary tangle, and microangiopathy, all are frequently associated with amyloid deposition. There has been some question, however, as to whether these lesions share the same etiology. Moreover, the specific chemical nature of amyloid associated with these lesions has not yet been determined. In the present study, formalin-fixed paraffin sections of the affected brains were tested immunocytochemically for their reactivity against antiserum to prealbumin (recently disclosed as the major constituent of amyloid associated with familial amyloidotic polyneuropathy as well as senile cardiac amyloid) and known components of other types of amyloid (AA, AP, etc.). The results demonstrated that amyloid deposits in all three lesions reacted with anti-prealbumin, suggesting that it is a common constituent of these lesions. Indeed, it is likely that prealbumin is the major constituent of amyloid associated with neuritic plaque, neurofibrillary tangle, and microangiopathy. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 Figure 11 Figure 12 Figure 13 Figure 14 Figure 15 Figure 16 Figure 17 Figure 18 PMID:6950666

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

    PubMed

    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

  4. Structure of Met30 variant of transthyretin and its amyloidogenic implications.

    PubMed Central

    Terry, C J; Damas, A M; Oliveira, P; Saraiva, M J; Alves, I L; Costa, P P; Matias, P M; Sakaki, Y; Blake, C C

    1993-01-01

    Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant hereditary type of lethal amyloidosis involving single (or double) amino acid substitutions in the amyloidogenic protein transthyretin (TTR). The most common type of FAP (Type I, or Portuguese) is characterized by a Val-->Met substitution at position 30. The Met30 variant of TTR has been produced by recombinant methods, crystallized in a form isomorphous with native TTR, subjected to X-ray analysis and compared structurally with the wild-type protein. The comparison shows that the effect of the substitution at position 30 is transmitted through the protein core to Cys10, the only thiol group in the TTR subunit, which becomes slightly more exposed. The variant TTR molecule is otherwise in a near-native state. Use of computer graphics has shown that it is possible to model a linear aggregate of TTR molecules, each linked to the next by a pair of disulphide bonds involving Cys10 residues. Formation of these disulphide bonds involves a small number of slightly short molecular contacts with native TTR molecules, most of which are relieved in the Met30 variant. We propose this model as a possible basis for a molecular description of the FAP amyloid fibrils. Images PMID:8382610

  5. Electrically neutral microheterogeneity of human plasma transthyretin (prealbumin) detected by isoelectric focusing in urea gradients.

    PubMed

    Altland, K; Winter, P; Sauerborn, M K

    1999-06-01

    Mutants of the human plasma transthyretin (TTR, prealbumin) have attracted interest due to their rather frequent association with the autosomal dominant disease familial amyloidotic polyneuropathy (FAP). Some three quarters of known TTR mutations produce electrically neutral amino acid substitutions undetectable via separation by charge. We have developed an electrophoretic procedure sensitive to differences in the stability of tetramers and monomers under partially denaturing conditions. The differential folding states were found to be fully reversible. Applying the procedure we found 14 electrically silent mutants of TTR among 2000 plasma samples from German donors. We demonstrate that the normal TTR monomer exists in different forms of variable stability and/or charge due to binding of sulfhydryls from plasma to the unique cysteine at position 10 of the primary structure as well as due to modification by treatment with an oxidant. We found that reduction of Cys10 increases the stability of the folded monomeric and tetrameric conformations. The conformational changes of TTR induced by isoelectric focusing in a urea gradient were found to be associated by a gain of three positive charge units. Using published crystallographic data we present structural sites in the TTR molecule which could explain the observed effects.

  6. Polyacrylamide gel electrophoresis followed by sodium dodecyl sulfate gradient polyacrylamide gel electrophoresis for the study of the dimer to monomer transition of human transthyretin.

    PubMed

    Altland, Klaus; Winter, Pia

    2003-07-01

    Familial amyloidotic polyneuropathy (FAP) is caused by mutations which destabilize transthyretin (TTR) and facilitate the aggregation into extracellular amyloid fibrils preferentially in peripheral nerve and heart tissues. Therapeutic and preventive trials for FAP at the plasma TTR level require a careful study of the destabilization of TTR under variable conditions. We have developed a simple double one-dimensional (D1-D) electrophoretic procedure with polyacrylamide gel electrophoresis (PAGE) followed by sodium dodecylsulfate (SDS) gradient PAGE to study the dimer to monomer transition. TTR is first isolated by PAGE from other plasma proteins. The gel strip containing the TTR fraction is incubated in 2% SDS under varying conditions of temperature, buffer composition, pH, and additives like urea and/or a sulfhydryl-reactive agent, followed by SDS-gradient PAGE for the separation of TTR dimers and monomers. We demonstrate that an unidirectional dimer to monomer transition of normal TTR is achieved at 70-80 degrees C in neutral to mild alkaline buffers or at 37 degrees C and slightly acidic pH (6-7). Addition of urea favors the transition into monomers. Amyloidogenic mutations like amyloidogenic TTR (ATTR)-V30M or ATTR-I107V favor the transition into monomers in buffer systems close to the physiological pH of human plasma. We conclude that this finding has to be considered by any hypothesis on ATTR-derived amyloidogenesis.

  7. Serum transthyretin levels in senile systemic amyloidosis: effects of age, gender and ethnicity.

    PubMed

    Buxbaum, Joel; Koziol, James; Connors, Lawreen H

    2008-12-01

    Serum transthyretin (TTR) levels are reduced in familial amyloidotic polyneuropathy (FAP). A single study of patients with senile systemic amyloidosis (SSA) in Sweden found that those individuals also had a significantly lower mean serum TTR concentration than age- and gender-matched controls. To determine if the same phenomenon prevailed in an ethnically more heterogeneous population, we compared the serum TTR levels, as determined by ELISA, in 45 documented SSA patients with congestive heart failure, 20 AL patients with congestive heart failure and population controls. Serum TTR concentrations in the controls were influenced in a statistically significant manner by age, gender and ethnicity. Although it is unlikely that such differences are clinically relevant, they must be considered when assessing the meaning of serum TTR concentrations in any clinically defined population. The serum concentrations in patients with SSA did not differ from age, gender and ethnically matched controls or from a group of AL patients with significant clinical cardiac involvement. We also compared TTR concentrations in 12 African-Americans carrying the TTR V122I allele with those in 826 African-Americans who were homozygous wild type at the TTR locus. The TTR V122I carriers had significantly lower serum TTR concentrations than appropriate controls even though the majority of such individuals had not reached the age of clinical or anatomic risk, i.e. over 60. Thus, as in carriers of other TTR mutations the serum TTR level is lower than normal, despite having a much later appearance of clinical disease. PMID:19065297

  8. 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

  9. 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

  10. 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…

  11. 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)

  12. Whole Family: Whole Child. Broken Family.

    ERIC Educational Resources Information Center

    DeVaul, Sue; Davis, John U.

    A literature review on the family environments of gifted students found that gifted children are more likely to be living in intact families than in divorced families. Children of single parents were more likely to be low-achieving, tardy, absent, truant, discipline problems, suspended, expelled, and dropouts than students in two-parent families.…

  13. Final Evaluation Report: Family to Family Program.

    ERIC Educational Resources Information Center

    Ramey, Luellen; Meyer, David P.

    This evaluation report of the Family to Family Program assesses parental attitudes towards their Family to Family experience and the functioning of their emotionally impaired children. It reviews issues of goal achievement; the impact on the targeted problem; service population demographics; and sustainability. Related topics include…

  14. Family Psychology and Family Therapy in Japan.

    ERIC Educational Resources Information Center

    Kameguchi, Kenji; Murphy-Shigematsu, Stephen

    2001-01-01

    Reviews the development of family psychology and family therapy in Japan, tracing the origins of these movements, explaining how these fields were activated by the problem of school refusal, and describing an approach to family therapy that has been developed to work with families confronting this problem, as well as preventive programs of family…

  15. Reclaiming Family Privilege

    ERIC Educational Resources Information Center

    Seita, John

    2012-01-01

    The pull for family is strong, almost primeval, most likely it is evolutionary, and for those lacking the benefit of family or Family Privilege, the loss of family is painful and profoundly sad. Young people who struggle to cope without stable family connections are profoundly aware of their lack of "Family Privilege." In this article, the author…

  16. 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. PMID:22515460

  17. 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.

  18. 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: Families of the Garbage Dump";…

  19. Family Literacy and ESL.

    ERIC Educational Resources Information Center

    Red, David L.

    2003-01-01

    Discusses family literacy and English as a Second Language, focusing on types of family literacy programs, issues in family literacy, and future directions in family literacy. Highlights one program and lists the components of three approaches to family literacy: intervention prevention, multiple literacies, and social change. (Author/VWL)

  20. Family Reading Night

    ERIC Educational Resources Information Center

    Hutchins, Darcy; Greenfeld, Marsha; Epstein, Joyce

    2007-01-01

    This book offers clear and practical guidelines to help engage families in student success. It shows families how to conduct a successful Family Reading Night at their school. Family Night themes include Scary Stories, Books We Love, Reading Olympics, Dr. Seuss, and other themes. Family reading nights invite parents to come to school with their…

  1. 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…

  2. Improving Family Communications

    MedlinePlus

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Listen Español Text Size Email Print Share Improving Family Communications Page Content Article Body How can I ...

  3. 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 ...

  4. Family Reunion Health Guide

    MedlinePlus

    ... Phone (Continued) 1. Send a Kidney Health Message Hi Family, I came across this information and thought ... mails to family members. Before the Reunion 1. Hi family! Taking care of your kidneys is important. ...

  5. 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.

  6. Developing Strengths in Families

    ERIC Educational Resources Information Center

    Bowman, Ted

    1976-01-01

    There are few descriptions of growth experiences for total families. This paper describes one such model. It expresses the conviction that families need opportunities to come together with other families to identify strengths, sharpen communication skills, and establish goals. (Author)

  7. Families and family therapy in Hong Kong.

    PubMed

    Tse, Samson; Ng, Roger M K; Tonsing, Kareen N; Ran, Maosheng

    2012-04-01

    Family therapy views humans not as separate entities, but as embedded in a network of relationships, highlighting the reciprocal influences of one's behaviours on one another. This article gives an overview of family demographics and the implementation of family therapy in Hong Kong. We start with a review of the family demographics in Hong Kong and brief notes on families in mainland China. Demographics show that the landscape has changed markedly in the past decade, with more cross-border marriages, an increased divorce rate, and an ageing overall population - all of which could mean that there is increasing demand for professional family therapy interventions. However, only a limited number of professionals are practising the systems-based approach in Hong Kong. Some possible reasons as to why family therapy is not well disseminated and practised are discussed. These reasons include a lack of mental health policy to support family therapy, a lack of systematic family therapy training, and a shortage of skilled professionals. Furthermore, challenges in applying the western model in Chinese culture are also outlined. We conclude that more future research is warranted to investigate how family therapy can be adapted for Chinese families.

  8. Families and family therapy in Hong Kong.

    PubMed

    Tse, Samson; Ng, Roger M K; Tonsing, Kareen N; Ran, Maosheng

    2012-04-01

    Family therapy views humans not as separate entities, but as embedded in a network of relationships, highlighting the reciprocal influences of one's behaviours on one another. This article gives an overview of family demographics and the implementation of family therapy in Hong Kong. We start with a review of the family demographics in Hong Kong and brief notes on families in mainland China. Demographics show that the landscape has changed markedly in the past decade, with more cross-border marriages, an increased divorce rate, and an ageing overall population - all of which could mean that there is increasing demand for professional family therapy interventions. However, only a limited number of professionals are practising the systems-based approach in Hong Kong. Some possible reasons as to why family therapy is not well disseminated and practised are discussed. These reasons include a lack of mental health policy to support family therapy, a lack of systematic family therapy training, and a shortage of skilled professionals. Furthermore, challenges in applying the western model in Chinese culture are also outlined. We conclude that more future research is warranted to investigate how family therapy can be adapted for Chinese families. PMID:22515459

  9. 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.

  10. Making Time for Family.

    ERIC Educational Resources Information Center

    Newman, Rita

    1998-01-01

    Reviews Covey's "7 Habits of Effective Families," noting that time plays an important part in each habit. Discusses several important "time" issues for families: time to plan for time, time for awareness of quality time, time to have two-way communication, time for family moments, and time to reflect. Includes suggestions for family activities in…

  11. 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…

  12. 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 'Amen'" (William Harrison…

  13. Gavin Families. A Report.

    ERIC Educational Resources Information Center

    Weaver, Paul Neufeld; And Others

    The Family Literacy Project at the Dr. Charles E. Gavin School in Chicago Heights, Illinois, brings together a community college adult education program, an early childhood program, and a local school district. This report of the Prairie State College Family Literacy Project assesses the needs for family literacy among the families in the Gavin…

  14. Familial Ebstein's anomaly.

    PubMed Central

    Rosenmann, A; Arad, I; Simcha, A; Schaap, T

    1976-01-01

    A family is described in which both a father and son are affected with Ebstein's anomaly, while several other family members manifest different cardiac malformations. Five additional instances of familial Ebstein's anomaly were found in the literature and compared with our family. Inspection of possible modes of inheritance in this group of families suggests that Ebstein's anomaly is probably inherited as a polygenic character with a threshold phenomenon. PMID:1018315

  15. Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.

    PubMed

    Pedurupillay, Christeen Ramane J; Amundsen, Silja S; Barøy, Tuva; Rasmussen, Magnhild; Blomhoff, Anne; Stadheim, Barbro Fossøy; Ørstavik, Kristin; Holmgren, Asbjørn; Iqbal, Tahir; Frengen, Eirik; Misceo, Doriana; Strømme, Petter

    2016-09-01

    Biallelic mutations in IGHMBP2 cause spinal muscular atrophy with respiratory distress type 1 (SMARD1) or Charcot-Marie-Tooth type 2S (CMT2S). We report three families variably affected by IGHMBP2 mutations. Patient 1, an 8-year-old boy with two homozygous variants: c.2T>C and c.861C>G, was wheelchair bound due to sensorimotor axonal neuropathy and chronic respiratory failure. Patient 2 and his younger sister, Patient 3, had compound heterozygous variants: c.983_987delAAGAA and c.1478C>T. However, clinical phenotypes differed markedly as the elder with sensorimotor axonal neuropathy had still unaffected respiratory function at 4.5 years, whereas the younger presented as infantile spinal muscular atrophy and died from relentless respiratory failure at 11 months. Patient 4, a 6-year-old girl homozygous for IGHMBP2 c.449+1G>T documented to result in two aberrant transcripts, was wheelchair dependent due to axonal polyneuropathy. The clinical presentation in Patients 1 and 3 were consistent with SMARD1, whereas Patients 2 and 4 were in agreement with CMT2S. PMID:27450922

  16. 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.

  17. 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. PMID:11491437

  18. 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.

  19. Family Synergy, A Variant Family Organization

    ERIC Educational Resources Information Center

    LaFollette, Patrick

    1975-01-01

    This article describes "Family Synergy" which is a non-profit organization for people interested in or exploring nontraditional marriage and family forms. It acts as a clearinghouse for the exchange of ideas and also provides a supportive community for people actually exploring these new lifestyles. (Author)

  20. Families and Family Study in International Perspective

    ERIC Educational Resources Information Center

    Adams, Bert N.

    2004-01-01

    Many changes are occurring in the world's families. Some observers feel that the changes are destructive, whereas others see them as leading to new opportunities and understanding. Issues in international family studies include regional limitations and the various aspects of doing research cross-culturally. Knowledge regarding certain categories…

  1. 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

  2. Familial myeloproliferative disease.

    PubMed

    Gilbert, H S

    1998-12-01

    The occurrence of one or more myeloproliferative disease (MPD) syndromes in 42 families is described. MPD appeared in a single generation in 10 families, two generations in 30 families and three generations in two families. In contrast to sparse case reports of familial polycythaemia vera, familial essential thrombocythaemia, or familial agnogenic myeloid metaplasia, in which all the involved members presented with the same MPD, 21 of the 42 families in the present series had members who presented with different MPD variants. The occurrence of multiple disease phenotypes in 'MPD families' is entirely consistent with the accepted theory of MPD as a disease arising from clonal expansion of a pluripotential haematopoietic precursor cell (PHPC) that retains its pluripotentiality and produces an array of inter-related syndromes, each named for the predominant haematic cell type involved in the proliferation. Changes in disease phenotype during the course of MPD and 'hybrid' phenotypes at the time of diagnosis are common. This report challenges the previously accepted belief that PV and other MPD variants are sporadic and randomly-occurring, and that familial occurrence of MPD is rare. The ability to identify 'MPD families' by surveying a large population of patients with MPD through the Internet, as was done in this study, and heightened awareness of familial occurrence and its phenotypic heterogeneity, should facilitate further characterization of the mode of inheritance in familial MPD and the nature of the gene mutations responsible for the dysregulation of haematopoiesis.

  3. Familial Pulmonary Fibrosis

    MedlinePlus

    ... are here: Health Information > Condition Information Familial Pulmonary Fibrosis: Overview When two or more members within the ... Associate Professor View full profile More Familial Pulmonary Fibrosis Information Forms Causes Genetic Counseling Print Page Email ...

  4. Evaluation of family therapy.

    PubMed

    Nielsen, Nanna

    2006-01-01

    Because children of mentally disordered parents have an increased risk of becoming subjects of mental disorder and psychological problems, adult psychiatry has increasingly paid attention to the patients' parental skills. This study includes 31 families with children younger than 18 years of age where the parents were admitted to family therapy in an open psychiatric ward. The average number of sessions was seven, and the diagnoses of severe stress and of adjustment disorder were the most common. The aim of the study was to measure changes in the family climate during the period of therapy. The instrument used was the Family Environment Scale (FES), a self-rating questionnaire that measures the parents' experience of family environment. The change of family environment is related to its influence on children's well-being and development. The study finds that family therapy has resulted in positive changes of the parents' experience of the family climate.

  5. Normative Family Development.

    ERIC Educational Resources Information Center

    Barcai, Avner

    1981-01-01

    Describes the sequentially developmental life stages of healthy, normal families. Provides an exposition of these developmental stages and forms as a guide or normative framework within which to test for dysfunction and pathology in the family process. (Author/JAC)

  6. MSUD Family Support Group

    MedlinePlus

    ... Group The MSUD Family Support Group is a non-profit 501 (c)(3) organization for those with MSUD ... Family Support Group is a 501(c)(3) non-profit organization with no paid staff. Funds are needed ...

  7. Assessing postpartum family functioning.

    PubMed

    Midmer, D; Talbot, Y

    1988-09-01

    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.

  8. 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

  9. Familial Periodic Paralyses

    MedlinePlus

    ... NINDS NINDS Familial Periodic Paralyses Information Page Synonym(s): Periodic Paralyses Table of Contents (click to jump to sections) What are Familial Periodic Paralyses? Is there any treatment? What is the ...

  10. Importance of Family Routines

    MedlinePlus

    ... Listen Español Text Size Email Print Share The Importance of Family Routines Page Content ​Every family needs ... child to sleep. These rituals can include storytelling, reading aloud, conversation, and songs. Try to avoid exciting ...

  11. 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, limited…

  12. 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…

  13. Focus on the Family.

    ERIC Educational Resources Information Center

    Hardy, James M.

    This research attempts to evaluate the YMCA's program in terms of its effect upon the family members it serves. The study was designed to: (1) classify, by descriptive types, the various kinds of YMCA operations which serve the family, identifying their characteristic differences; (2) examine and describe operating practices of family YMCAs…

  14. Families in Multicultural Perspective.

    ERIC Educational Resources Information Center

    Ingoldsby, Bron B., Ed.; Smith, Suzanna, Ed.

    Covering contemporary Third World as well as Western families, this teaching text addresses topics essential for developing a multicultural perspective on the family. It is an ideal text for comparative family courses and includes exercises (as well as exercise guidelines for instructors) developed to challenge students' existing viewpoints and…

  15. Valuing Families. Activity Guide.

    ERIC Educational Resources Information Center

    Glashagel, Jerry; Glashagel, Char

    Developed as a resource for family life education, this activity guide can be used to lead experiential learning situations for intergenerational groups by a counselor, in a course, in a family organization like the YMCA, or in the home. The goals of this guide are to increase the self-esteem of each person and to strengthen the family as a human…

  16. 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.…

  17. 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…

  18. Doing Better for Families

    ERIC Educational Resources Information Center

    OECD Publishing (NJ3), 2011

    2011-01-01

    All OECD governments want to give parents more choice in their work and family decisions. This book looks at the different ways in which governments support families. It seeks to provide answers to questions like: Is spending on family benefits going up, and how does it vary by the age of the child? Has the crisis affected public support for…

  19. 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…

  20. The Resiliency of Families.

    ERIC Educational Resources Information Center

    Morrison, T. R.

    According to researchers, the family may be changing but it is still one of the central institutions in society. Studies report a shift in more than 20 attitudes and values, most of which relate to the context of family life. Specifically, these include attitudes toward marriage, divorce, childbearing, childrearing, working women, family violence,…

  1. Rape: A Family Crisis.

    ERIC Educational Resources Information Center

    White, Priscilla N.; Rollins, Judith C.

    1981-01-01

    Rape is a crisis shared by the victim and her family. The family's reaction is influenced by cultural views such as viewing rape as sex rather than violence. Adaptive responses can be supported by open expression, education, and family, as well as individual counseling. (JAC)

  2. Therapy with African Families.

    ERIC Educational Resources Information Center

    Nwadiora, Emeka

    1996-01-01

    Informs helping professionals about the unique history and challenges of African families to guide them toward providing ethnically sensitive psychological services to African immigrant families in need. African families undergo great stress when faced with the alienation of being Black and African in a Euro-American culture. (SLD)

  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. Rape: A Family Crisis.

    ERIC Educational Resources Information Center

    Feinauer, Leslie

    1982-01-01

    Suggests that, although a young woman who has been sexually assaulted may experience pain and alienation as an individual, family members also experience trauma, often left unresolved while retaining an impact on the family's ability to function. Introduces family therapy as a desirable approach to treatment of the rape victim. (Author/JAC)

  5. Strengths of Remarried Families.

    ERIC Educational Resources Information Center

    Knaub, Patricia Kain; And Others

    1984-01-01

    Focuses on remarried families' (N=80) perceptions of family strengths, marital satisfaction, and adjustment to the remarried situation. Results indicated that although most would like to make some changes, scores on the measurements used were high. A supportive environment was the most important predictor of family strength and success. (JAC)

  6. 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)…

  7. 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…

  8. [Men and family planning].

    PubMed

    Vieira, J G

    1993-01-01

    Family planning programs since their beginnings have focused exclusively on women. The importance of male participation in family planning has not been recognized. Today's society demands greater understanding and empathy between spouses, if they are to meet the new and difficult challenges of modern life. Incorporation of men into family planning programs is needed because of the deteriorating live conditions of a large segment of the population and the accelerating decomposition of social structures. Persuading men to participate in family planning should strengthen the couple and increase the probability that decisions about family size will be responsible. Strategies should be designed to interest men in family planning and increase their awareness of their role in fathering happy children who enter the world in more just and humane conditions. Such strategies must combat sex role socialization that begins in infancy. The assignment of responsibility for family planning to the woman excludes men from what should be a fundamental role.

  9. [Health and disadvantaged families.].

    PubMed

    Thibaudeau, M F

    1985-01-01

    Using data obtained from an evaluative study of experimental , health care given to families in two C.L.S.C, this article describes the functioning of a group on under priviledged families in two C.L.S.C. and the health both of the parents and their children below 10 years old. The sample of 85 families comprises an equal number of biparental and monoparental families. Three quarters of those families are on welfare and most of their living conditions are pitiable, half of the mothers come from broken families. Events of daily life involving stress are met with difficulty by most families. The shows that the mothers are under stress throughout the project. The children below 10 years old have high levels of school absenteism and display physical and psychological problems.

  10. [Familial pituitary tumors].

    PubMed

    Yoshimoto, K; Saito, S

    1995-11-01

    Familial pituitary tumors are relatively rare. Most commonly, they occur as a part of multiple endocrine neoplasia type 1 (MEN 1). However, familial pituitary adenomas unrelated MEN 1 (familial pituitary adenomas) are extremely rare. In review of MEN 1 in Japan, 60% of the patients with MEN 1 had pituitary tumors. Only 45 cases of familial pituitary adenomas have been reported from 20 families. In our review of familial pituitary adenomas, 30 (67%) of 45 reported cases are acromegaly or gigantism. This incidence is much higher than 28% in MEN 1 patients with pituitary tumors. Allelic deletions at 11q13 were identified in MEN 1 associated pituitary adenomas and familial pituitary adenomas in two gigantism brothers. PMID:8538028

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

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 24 Housing and Urban Development 4 2012-04-01 2012-04-01 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. 24 CFR 982.515 - Family share: Family responsibility.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 24 Housing and Urban Development 4 2013-04-01 2013-04-01 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...

  13. 24 CFR 982.515 - Family share: Family responsibility.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 24 Housing and Urban Development 4 2014-04-01 2014-04-01 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...

  14. 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...

  15. 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...

  16. Rethinking family power.

    PubMed

    Kranichfeld, M L

    1987-03-01

    The family power literature, in its macrolevel focus on marital decision-making, has emphasized the kind of family power that is generally conferred on men and is based on extrafamilial roles and performances. Kranichfeld argues that for the last 2 decades, reviews of family power literature have been fundamentally shaped by the abiding interest in the relative power of men and women, rather than in power in the family per se. Researchers have continued to assume that family power is generated by acquiring skills, resources, and status outside the family rather than by acquiring skills for relating to others within the family. Much of the family power literature has focused on marriage and marital decision-making, but Kranichfeld argues that it is power within the parent-child relationship that is more complex, enduring, and significant. An understanding of the depth and reach of the kind of power that women hold, taken together without knowledge of how men's relationships to families are changing in our society, allows the possibility that women's positions are more secure than they sometimes seem. Many of the painful life situations that women experience because their powerlessness at a more macro level of society (desertion, physical abuse, teenage pregnancy) occur within the context of the romantic tie, and women's investment and power in vertical bonds are a source of support that reduces women's dependence on and vulnerability to the horizontal tie. Women occupy positions at the very center of the family, in contrast to men, who are becoming increasingly isolated from the family. From this perspective, the normally male power to make the decision about what kind of car to buy or where to spend the family vacation is nearly reduced to insignificance. The message seems to be that when it comes to securing family power, nothing can substitute for investment, attention, connection, and care.

  17. Creating a Family Health History

    MedlinePlus

    ... Health History? Click for more information A Family Tree for Health A family health history is a ... family members grew up. It's like a family tree for health. Click for more information What a ...

  18. 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

  19. Strengthening family systems.

    PubMed

    Starn, J

    1993-01-01

    The childbearing year is a psychosocial transition that involves changes in roles and status for each member of the family. This change is perhaps most significant in the transition that occurs with the birth of the first child. Thus, childbirth education can be looked upon as an opportunity to strengthen family systems through anticipatory guidance and skill building that family members may use throughout the life cycle.

  20. 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. PMID:25860324

  1. Asteroid family ages

    NASA Astrophysics Data System (ADS)

    Spoto, Federica; Milani, Andrea; Knežević, Zoran

    2015-09-01

    A new family classification, based on a catalog of proper elements with ∼384,000 numbered asteroids and on new methods is available. For the 45 dynamical families with >250 members identified in this classification, we present an attempt to obtain statistically significant ages: we succeeded in computing ages for 37 collisional families. We used a rigorous method, including a least squares fit of the two sides of a V-shape plot in the proper semimajor axis, inverse diameter plane to determine the corresponding slopes, an advanced error model for the uncertainties of asteroid diameters, an iterative outlier rejection scheme and quality control. The best available Yarkovsky measurement was used to estimate a calibration of the Yarkovsky effect for each family. The results are presented separately for the families originated in fragmentation or cratering events, for the young, compact families and for the truncated, one-sided families. For all the computed ages the corresponding uncertainties are provided, and the results are discussed and compared with the literature. The ages of several families have been estimated for the first time, in other cases the accuracy has been improved. We have been quite successful in computing ages for old families, we have significant results for both young and ancient, while we have little, if any, evidence for primordial families. We found 2 cases where two separate dynamical families form together a single V-shape with compatible slopes, thus indicating a single collisional event. We have also found 3 examples of dynamical families containing multiple collisional families, plus a dubious case: for these we have obtained discordant slopes for the two sides of the V-shape, resulting in distinct ages. We have found 2 cases of families containing a conspicuous subfamily, such that it is possible to measure the slope of a distinct V-shape, thus the age of the secondary collision. We also provide data on the central gaps appearing in

  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. 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…

  4. 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)

  5. A Family Disease.

    ERIC Educational Resources Information Center

    Harrington, Virginia Clarke

    1983-01-01

    Discusses alcoholism, its effect upon the children in the family, and what teachers can do to help children of alcoholics. Suggests that teachers be caring, nonjudgmental, and empathetic; learn what alcoholism is, how it affects the family, and how to identify affected children in classroom; and provide information on alcoholic help groups. (DMM)

  6. Families Falling Apart.

    ERIC Educational Resources Information Center

    Moynihan, Daniel Patrick

    1990-01-01

    Reviews trends in Black male unemployment, out-of-wedlock births, and the number of Aid to Families with Dependent Children cases over the past 25 years. Argues that family breakdown is creating a state of urban social chaos that could lead to martial law. (FMW)

  7. Uninsured Rural Families

    ERIC Educational Resources Information Center

    Ziller, Erika C.; Coburn, Andrew F.; Anderson, Nathaniel J.; Loux, Stephenie L.

    2008-01-01

    Context: Although research shows higher uninsured rates among rural versus urban individuals, prior studies are limited because they do not examine coverage across entire rural families. Purpose: This study uses the Medical Expenditure Panel Survey (MEPS) to compare rural and urban insurance coverage within families, to inform the design of…

  8. 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)

  9. Balancing Work & Family.

    ERIC Educational Resources Information Center

    Hutchinson Community Junior Coll., KS.

    This curriculum is based on what students need to know, to be able to do, and to be like in order to be competent in the work of the family. Each of the 12 units follows a uniform format that includes the following: perennial problem (one faced over and over by successive generations of families); practical problem (the organizing scheme for how…

  10. THE URBAN NEGRO FAMILY.

    ERIC Educational Resources Information Center

    DOUGLASS, JOSEPH H.

    IN TRACING THE MOVEMENT OF THE NEGRO FAMILY TOWARD A MIDDLE-CLASS ORIENTATION AND TOWARD URBANIZATION, THIS ARTICLE NOTES THAT THE PATTERN IS BECOMING SIMILAR TO THAT OF THE GENERAL AMERICAN FAMILY. NEGROES HAVE LEFT THEIR SOUTHERN RURAL FARMS FOR BOTH SOUTHERN AND NORTHERN URBAN AREAS AND HAVE TENDED TO SETTLE IN THE INNER CORE OF THE LARGEST…

  11. 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…

  12. 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,…

  13. 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)

  14. Selecting Family Interventions.

    ERIC Educational Resources Information Center

    Watts, Richard E.

    Just as counseling approaches designed for individuals have their theory-specific techniques, family counseling approaches also have theory-specific interventions and strategies. Whatever presenting problem the family brings to counseling, one or more of four essential components (communication, problem solving, roles and boundaries) is typically…

  15. Closure Issues with Families.

    ERIC Educational Resources Information Center

    Craig, Steven E.; Bischof, Gary H.

    Closure of the counseling relationship constitutes both an ending and a beginning. Although closure signifies the ending of the present counseling relationship, many family counselors conceptualize closure as the start of a working relationship between counselor and family that may be summoned in future times of crisis or during a difficult life…

  16. Family History Resources.

    ERIC Educational Resources Information Center

    Bookmark, 1991

    1991-01-01

    The 12 articles in this issue focus on the theme of family history resources: (1) "Introduction: Family History Resources" (Joseph F. Shubert); (2) "Work, Credentials, and Expectations of a Professional Genealogist" (Coreen P. Hallenbeck and Lewis W. Hallenbeck); (3) "Computers and Genealogy" (Theresa C. Strasser); (4) "Finding Historical Records…

  17. Family/Individual Health.

    ERIC Educational Resources Information Center

    Texas Tech Univ., Lubbock. Home Economics Curriculum Center.

    This document contains teacher's materials for a six-unit secondary education vocational home economics course on personal and family health. The units cover: (1) personal health and wellness (including the decisions and other factors that influence health, principles of personal health, and stress management); (2) family health (including coping…

  18. 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 noting country…

  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 Bois and…

  20. 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" (Marguerite Stevenson…

  1. 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 project in…

  2. 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…

  3. Contextual Family Therapy.

    ERIC Educational Resources Information Center

    Frank, Catherine

    1984-01-01

    Examines the major principles and goals of contextual therapy and methods employed in its clinical application. A second article presents an interview with Dr. Ivan Boszormenyi-Nagy, who developed contextual family therapy. The interview ranges from Dr. Nagy's early training to the theoretical and clinical foundations of contextual family therapy.…

  4. 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…

  5. Assessment of Troubled Families.

    ERIC Educational Resources Information Center

    Combs-Orme, Terri; Thomas, Katherine H.

    1997-01-01

    Tests the utility of four standardized instruments used in assessing 105 families that sought services in a juvenile corrections setting for their teenage children. Results demonstrate that parents and adolescents can complete standardized assessment instruments and that the information provided can help in understanding distressed families. (RJM)

  6. 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…

  7. Feminism and family therapy.

    PubMed

    Goldner, V

    1985-03-01

    Feminism has had a profound effect on contemporary culture and on thinking in most academic fields, including psychoanalysis. Interestingly, until very recently it had made virtually no impact on the theory and practice of family therapy. This paper proposes an explanation for this peculiar phenomenon and argues that family therapy has been considerably handicapped by its insularity from the feminist critique. Utilizing feminist scholarship in psychoanalysis, history, and sociology, the paper analyzes the structural contradictions in family life that family therapists have essentially ignored and then outlines their clinical implications. Key points in the discussion include the argument that systems theory is an inadequate explanatory matrix from which to build a theory of the family, that the archetypal "family case" of the overinvolved mother and peripheral father is best understood, not as a clinical problem, but as the product of a historical process two hundred years in the making, and that power relations between men and women in families function in terms of paradoxical, incongruous hierarchies that reflect the complex interpenetration between the structure of family relations and the world of work. This conceptual model then provides the basis for an analysis and critique of sexual politics as they emerge in the prototypical clinical situation.

  8. 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…

  9. 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…

  10. Families under Economic Pressure.

    ERIC Educational Resources Information Center

    Elder, Glen H., Jr.; And Others

    The economic decline of rural America has widespread consequences for families, children, and education. Broad changes in farming and in the rural nonfarm sector have pushed the poverty rate for rural areas in the 1980s higher than the central cities rate. Projections indicate that by the mid-1990s, one-half of all farm families in the midwest may…

  11. Family Assessment Process Manual.

    ERIC Educational Resources Information Center

    Patterson, Jerri; And Others

    The five-step family assessment process presented in this manual is designed to facilitate the accurate, organized collection of information necessary for the development of an intervention plan for families with children. The materials contain the five forms that are to be completed as part of the assessment process, including a: (1) family…

  12. [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…

  13. 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, "The…

  14. Population and family planning.

    PubMed

    Weinberger, C W

    1974-01-01

    The author agrees with the United Teheran Declaration of Human Rights which declared the right of each couple to choose the size of their own family. Government policies must preserve and increase informed choice for all couples. The Supreme Court recognized the right of all married couples to practice birth control in a 1965 decision; the Court extended this right to all persons in 1972. The 1970 Family Planning Services and Population Research Act involved the United States government in family planning support here and abroad. By 1973 organized family planning programs were serving more than 3.2 million women. They had been extended geographically too. Fertility research is being conducted. Before 1980 family planning programs will be integrated into general health care systems with comprehensive health care insurance covering the bills.

  15. 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

  16. Family allowance and family planning in Chile.

    PubMed Central

    Plank, S J

    1978-01-01

    Family allowances designed to promote maternal and child health and welfare could be self-defeating if they stimulated otherwise unwanted births, as often assumed. That assumption, with its public health and demographic implications, needs testing. An attempt to test it was made in Chile in 1969--1970 through interviews with 945 wives receiving an allowance and 690 non-recipients. Recipients practiced contraception significantly more than did non-recipients. This was not explained by wives' educational attainment or employment, the couples' earnings, or number of living children, but was associated with a 50 per cent greater utilization of professional prenatal care by recipients during the most recent pregnancy; women with such care (regardless of allowance status) were 75 per cent more likely than others to control their fertility. Prenatal care was probably sought more by recipients in part because an additional stipend was provided as soon as pregnancy was confirmed, usually at clinics with integrated family planning. Greater family income, attributable to the allowance, probably also contributed to the recipients' better prenatal attention and to contraceptive practice. Noteworthy, too, was the finding that with the number of living children controlled, contraceptive practice was significantly greater amoung couples who had never lost a child. PMID:717610

  17. 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:…

  18. Family Oriented Geographic Field Experience.

    ERIC Educational Resources Information Center

    Williams, Karen Ann Lalk

    This paper describes a program of geographic education through field experience trips for family groups. Developed at Delta College in Michigan, the approach is unique because it emphasizes learning experiences for families rather than for individual students. The family is interpreted to include nuclear families, single-parent families with…

  19. Canadian Families (Les Familles Canadiennes).

    ERIC Educational Resources Information Center

    Vanier Inst. of the Family, Ottawa (Ontario).

    Structural changes that have taken place in Canadian families in recent decades are described in this booklet. Topical sections are as follows: (1) What Counts in Canadian Families (importance of (importance of family); (2) The Family--Variations on a Theme origins, family structure, seniors aged 60 and over, how lives are spent, religion); (3)…

  20. Ethical Issues in Family Work.

    ERIC Educational Resources Information Center

    Kaplan, David M.

    For more than half a decade, the author edited a quarterly ethics column focusing on family work, first in the "International Association of Marriage and Family Counselors Newsletter" and later in "The Family Journal: Counseling and Therapy for Couples and Families." These columns responded to ethical dilemmas in family work submitted by…

  1. 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

  2. Family medical leave as a resilience resource for family caregivers.

    PubMed

    Swanke, Jayme; Zeman, Laura Dreuth

    2009-01-01

    Case managers mobilize family networks to care for patients. Family medical leave can be a resource for case managers who seek to enhance resilience among family caregivers. The Family Medical Leave Act, passed in 1993, was the first U.S. policy to regulate employee leaves from work for family care purposes (29 CFR 825.102). This policy offers family caregivers increased flexibility and equality. Current and emerging policies also can reduce financial strain. The discussion examines how case managers can integrate family medical leave into best-practice models to support patients and family caregivers.

  3. Families in the Military

    MedlinePlus

    ... have led to deployment of large numbers of military personnel (active duty, Reserves, National Guard). As a result ... worries and plans for the future. Let your child know that the family member is making a ...

  4. Familial combined hyperlipidemia

    MedlinePlus

    ... fats. It can cause early heart attacks. Diabetes , alcoholism, and hypothyroidism make the condition worse. Risk factors include a family history of high cholesterol and early coronary artery disease.

  5. Family Caregiver Alliance

    MedlinePlus

    ... A Complex Web: Family Caregiving and Healthcare [Editor's note: This blog was originally posted on the the Atlas of Caregiving website on June ... 2016 Taking Care of SoMEone Else November 14, 2016 Grupo ...

  6. Collaboration in Family Therapy

    PubMed Central

    Tuerk, Elena Hontoria; McCart, Michael R.; Henggeler, Scott W.

    2015-01-01

    This article summarizes and illustrates the collaboration strategies used by several family therapies. The strategies used within multisystemic therapy (MST) are emphasized because it has demonstrated high rates of treatment completion and favorable outcomes in multiple clinical trials. Many of the collaboration strategies in family work are common to other forms of evidence-based psychotherapy (e.g., reflective listening, empathy, reframing, and displays of authenticity and flexibility); however, some strategies are unique to family systems treatments, such as the identification of strengths across multiple systems in the youth’s social ecology and the maintenance of a family (versus a child) focus during treatment. A case example illustrates collaboration and engagement in the context of MST. PMID:23616297

  7. Family Adjustment to Aphasia

    MedlinePlus

    ... this time. Seek additional counseling services as necessary. Communication Skills Family members also can help the person ... aphasia develop new skills to compensate for the communication problems. Some suggestion include: Continue to talk to ...

  8. 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…

  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. [Counseling of immigrant families].

    PubMed

    Pavkovic, G

    2001-04-01

    The quality and efficiency in the process of psychological counseling with migrant families depends on the counselor's insight in the constellations of migration and culture. Both have a special influence on the way of coping with problems and the relation between client and counselor during the therapy. It is therefore necessary to adapt the own therapeutical approach to the migrant's experiences and abilities of comprehension. The author presents one example of intercultural family counseling by three short case explorations. PMID:11382173

  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. Increase in family allowances.

    PubMed

    1989-01-01

    In July 1989 the family allowance structure in Australia was changed from a 4-rate to a 2-rate structure. The new rates were increased to $A9 a week for the 1st 3 children and $A12 for each additional child. The Family Allowance Supplment rate for children 13-15 years old was raised from $A31 to $A34.10/week. PMID:12344544

  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. [Apothecaries' arms of Voltaire's family].

    PubMed

    Chaigneau, M

    1998-01-01

    Apothecaries of Voltaire's family can be divided into two groups. Marceton Family: Claude Marceton, Hierosme and Pierre Testefolle, from Thouars. Arouet family: Jehan Arouet, Pierre Rochard and Jean Gougeard. Five of those apothecaries beand arms. PMID:11625327

  15. Administration for Children and Families

    MedlinePlus

    ... Visit the Children's Bureau Website The Family Room Blog RSS Feed Ensuring Equal Access for All November ... families View more posts from the Family Room Blog Back to Top Home About What We Do ...

  16. Molecular analyses of an acidic transthyretin Asn 90 variant.

    PubMed Central

    Saraiva, M J; Almeida, M R; Alves, I L; Moreira, P; Gawinowicz, M; Costa, P P; Rauh, S; Banhzoff, A; Altland, K

    1991-01-01

    A mutation in transthyretin (TTR Asn 90) has been identified in the Portuguese and German populations. This variant has a lower pI and was found by screening analyses in 2/4,000 German subjects and in 4/1,200 Portuguese by using either double one-dimensional (D1-D) electrophoresis with isoelectric focusing (IEF) or hybrid isoelectric focusing in immobilized pH gradient (HIEF) as the final separation step. The Portuguese population sample was from the area where TTR Met 30-associated familial amyloidotic polyneuropathy (FAP) prevails, and it was divided into (a) a group of 500 individuals belonging to FAP kindreds and (b) a group of 700 collected at random. HIEF showed two particular situations: (1) one case, from an FAP kindred, was simultaneously carrier of the Met 30 substitution and the acidic variant, and (2) one individual, from the randomly selected Portuguese sample, had only the acidic monomer. Comparative peptide mapping, by HPLC, of the acidic variant carriers and of normal TTR showed the presence of an abnormal tryptic peptide, not present in the normal TTR digests, with an asparagine-for-histidine substitution at position 90 explained by a single base change of adenine for cytosine in the histidine codon. This was confirmed at the DNA level by RFLP analyses of PCR-amplified material after digestion with SphI and BsmI. In all carriers of the Asn 90 substitution, no indicators were found for an association with traits characteristic for FAP. Images Figure 1 Figure 3 PMID:1850190

  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. 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.

  19. Fluorescence molecular probes for sensitive point detection of amyloid fibrils and protofibrils

    NASA Astrophysics Data System (ADS)

    Lindgren, Mikael; Jonsson, Per; Sörgjerd, Karin; Hammarström, Per

    2005-10-01

    Protein based infections such as prion diseases have lately attracted a large amount of interest, primarily due to the Mad Cow Epidemic in Great Britain, and the increase of Alzheimer's disease and related diseases in the ageing Western society. Infective proteins are very stable and almost untraceable prior to infection making them ideal as biological weapons. Particularly if the used agent is of human origin, the immunoresponse can be avoided, leaving no trace of the infectious agent. The transient nature of infectious oligomeric intermediates of misfolded proteins or peptide fragments that later matures into fibrillar aggregates makes them hard to study, and methods to detect and study these species are sparse. There exist a number of fluorescent probes that bind specifically to protein amyloidic structures. Thioflavins (ThT, ThS), Congo and Nile red, 4-(dicyanovinyl)-julolidine (DCVJ), as well as derivatives amino-8-naphtalene sulphonate (ANS, Bis-ANS) which are known to bind to the fibrillar or pre-fibrillar states with dissociation constants of typically 1 - 20 μM. Here, transthyretin (TTR), insulin and lysozyme were used as model proteins to detect different amyloid precursor states for diseases such as senile systemic amyloidosis, familial amyloidotic polyneuropathy (FAP) and iatrogenic amyloidosis. Specifically, the probes were employed in static assays to characterize protofibrillar and mature amyloid fibrillar states using steady state and time-resolved fluorescence techniques. Particularly, we investigate and report on the possibility to detect protofibrillar states at low concentration levels using modern fluorescence array detector systems in conjunction with lasers operating in the blue or ultraviolett wavelengths as excitation source. Results of ANS, ThT and a ThT analogue (abbreviated ThC) are discussed.

  20. Analysis of serum transthyretin by on-line immunoaffinity solid-phase extraction capillary electrophoresis mass spectrometry using magnetic beads.

    PubMed

    Peró-Gascón, Roger; Pont, Laura; Benavente, Fernando; Barbosa, José; Sanz-Nebot, Victoria

    2016-05-01

    In this paper, an on-line immunoaffinity solid-phase extraction capillary electrophoresis mass spectrometry (IA-SPE-CE-MS) method using magnetic beads (MBs) is described for the analysis of serum transthyretin (TTR), which is a protein related to different types of amyloidosis. First, purification of TTR from serum was investigated by off-line immunoprecipitation and CE-MS. The suitability of three Protein A (ProA) MBs (Protein A Ultrarapid Agarose(TM) (UAPA), Dynabeads(®) Protein A (DyPA) and SiMAG-Protein A (SiPA) and AffiAmino Ultrarapid Agarose(TM) (UAAF) MBs to prepare an IA sorbent with a polyclonal antibody (Ab) against TTR, was studied. In all cases, results were repeatable and it was possible the identification and the quantitation of the relative abundance of the six most abundant TTR proteoforms. Although recoveries were the best with UAPA MBs, UAAF MBs were preferred for on-line immunopurification because Ab was not eluted from the MBs. Under the optimized conditions with standards in IA-SPE-CE-MS, microcartridge lifetime (>20 analyses/day) and repeatability (2.9 and 4.3% RSD for migration times and peak areas) were good, the method was linear between 5 and 25 μg/mL and LOD was around 1 μg/mL (25 times lower than by CE-MS, ≈25 μg/mL). A simple off-line sample pretreatment based on precipitation of the most abundant proteins with 5% (v/v) of phenol was necessary to clean-up serum samples. The potential of the on-line method to screen for familial amyloidotic polyneuropathy type I (FAP-I), which is the most common hereditary systemic amyloidosis, was demonstrated analysing serum samples from healthy controls and FAP-I patients.

  1. Family Planning in Thailand.

    PubMed

    1980-12-01

    Until 1958, when the World Bank Economic Mission reported that Thailand's high rate of population growth was adversely affecting its development efforts, Thailand had a pronatalist policy. Government concern led to a formal declaration of voluntary family planning support in 1970. The National Family Planning Program (NFPP) under the auspices of the Ministry of Public Health has the following objectives: reduce the population growth rate to 2.5% per annum by the end of 1976; inform and motivate women about family planning, using methods of mass communication; increase availability of family planning services throughout the country; and to integrate family planning activities with maternal and child health services. Activities include training and supervision of NFPP personnel, research and evaluation, and the coordination of public and private family planning organizations. The NFPP has been successful in reducing the growth rate to 2.55% in 1976 and in surpassing its target contraceptive acceptor level of 1,975,000 to a level of 2,490,850. Future concerns of NFPP include its dependence on foreign financial support, and its need to encourage local funding.

  2. Familial pituitary tumors.

    PubMed

    Alband, Neda; Korbonits, Márta

    2014-01-01

    Pituitary adenomas are benign intracranial neoplasms that present a major clinical concern due to hormone overproduction and/or tumor mass effects. The majority of pituitary adenomas occur sporadically; however, familial cases are increasingly being recognized, such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC), and familial isolated pituitary adenoma (FIPA). Familial pituitary tumors appear to differ from their sporadic counterparts both in their genetic basis and in clinical characteristics. Evidence suggests that, especially in MEN1 and FIPA, tumors are more aggressive and affect patients at a younger age, therefore justifying the importance of early diagnosis, while in Carney complex pituitary hyperplasia is common. The genetic alterations responsible for the formation of familial pituitary syndromes include the MEN1 gene, responsible for about 80% of MEN1 cases, the regulatory subunit of the protein kinase A, PRKAR1A, responsible for about 70% of Carney complex cases, and AIP, the gene coding the aryl hydrocarbon receptor interacting protein, responsible for about 20% of FIPA cases. Rarely other genes have also been found responsible for familial pituitary adenoma cases. McCune-Albright syndrome (MAS) also has a genetic origin due to mosaic mutations in the G protein-coupled α subunit coded by the GNAS1 gene. In this chapter, we summarize the genetic and clinical characteristics of these familial pituitary syndromes and MAS. PMID:25248598

  3. 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.

  4. Pediatric family-centered rehabilitation.

    PubMed

    Hostler, S L

    1999-08-01

    Family-centered rehabilitation programs are derived from a philosophy of heath care delivery known as family-centered care. The principles of family-centered care are presented with clinical examples. Its origins are reviewed, and the 10-year process of implementation of family-centered care practice and policy at a children's rehabilitation center are described. Profound changes in behavior are required of the health care professionals as meaningful collaboration with families develops. Key elements of a family-centered rehabilitation program include meaningful participation by families in medical decision making and an institutional culture flexible enough to respond to the ongoing collaboration between families and practitioners.

  5. Changing families, changing workplaces.

    PubMed

    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 distribution. Between 1975 and 2009, the labor force rate of mothers with children under age eighteen increased from 47.4 percent to 71.6 percent. Mothers today also return to work much sooner after the birth of a child than did mothers half a century ago. High divorce rates and a sharp rise in the share of births to unmarried mothers mean that more children are being raised by a single parent, usually their mother. Workplaces too have changed, observes Bianchi. Today's employees increasingly work nonstandard hours. The well-being of highly skilled workers and less-skilled workers has been diverging. For the former, work hours may be long, but income has soared. For lower-skill workers, the lack of "good jobs" disconnects fathers from family obligations. Men who cannot find work or have low earnings potential are much less likely to marry. For low-income women, many of whom are single parents, the work-family dilemma is how to care adequately for children and work enough hours to support them financially. Jobs for working-class and lower middle-class workers are relatively stable, except in economic downturns, but pay is low, and both parents must work full time to make ends meet. Family income is too high to qualify for government subsidized child care, but too low to afford high-quality care in the private market. These families struggle to have a reasonable family life and provide for their family's economic well-being. Bianchi concludes that the "work and family" problem has no one solution because it is not one problem. Some workers need more work and more money. Some need to take time off around the birth of a child

  6. Changing families, changing workplaces.

    PubMed

    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 distribution. Between 1975 and 2009, the labor force rate of mothers with children under age eighteen increased from 47.4 percent to 71.6 percent. Mothers today also return to work much sooner after the birth of a child than did mothers half a century ago. High divorce rates and a sharp rise in the share of births to unmarried mothers mean that more children are being raised by a single parent, usually their mother. Workplaces too have changed, observes Bianchi. Today's employees increasingly work nonstandard hours. The well-being of highly skilled workers and less-skilled workers has been diverging. For the former, work hours may be long, but income has soared. For lower-skill workers, the lack of "good jobs" disconnects fathers from family obligations. Men who cannot find work or have low earnings potential are much less likely to marry. For low-income women, many of whom are single parents, the work-family dilemma is how to care adequately for children and work enough hours to support them financially. Jobs for working-class and lower middle-class workers are relatively stable, except in economic downturns, but pay is low, and both parents must work full time to make ends meet. Family income is too high to qualify for government subsidized child care, but too low to afford high-quality care in the private market. These families struggle to have a reasonable family life and provide for their family's economic well-being. Bianchi concludes that the "work and family" problem has no one solution because it is not one problem. Some workers need more work and more money. Some need to take time off around the birth of a child

  7. Idiopathic CD4 lymphocytopenia with sensorimotor polyneuropathy

    PubMed Central

    Puri, Vinod; Duggal, Ashish Kumar; Chaudhry, Neera

    2016-01-01

    A, 21-years-old, male, presented with acute onset, gradually progressive, predominantly distal, symmetrical weakness of both upper and lower limbs with arreflexia. He had impaired sensations in glove and stocking distribution with distal gradient. He was found to have absolute CD4 + cell count of 188 cells/μL, absolute CD8 cell count, 532 cells/μL and CD4: CD8 ratio of 0.35. Electrophysiology revealed reduced to absent CMAP amplitude as well as SNAPs in various nerves of upper and lower limbs, along with normal conduction velocity and normal F wave latencies. Pattern evoked visual potentials were prolonged, on both sides, P100 being 130 ms, on right and 108 ms, on left side. In the follow up of 2 years, he showed spontaneous but gradual clinical improvement but his electrophysiological parameters as well as CD 4+ cells count did not show any significant improvement. PMID:27570393

  8. Idiopathic CD4 lymphocytopenia with sensorimotor polyneuropathy.

    PubMed

    Puri, Vinod; Duggal, Ashish Kumar; Chaudhry, Neera

    2016-01-01

    A, 21-years-old, male, presented with acute onset, gradually progressive, predominantly distal, symmetrical weakness of both upper and lower limbs with arreflexia. He had impaired sensations in glove and stocking distribution with distal gradient. He was found to have absolute CD4 + cell count of 188 cells/μL, absolute CD8 cell count, 532 cells/μL and CD4: CD8 ratio of 0.35. Electrophysiology revealed reduced to absent CMAP amplitude as well as SNAPs in various nerves of upper and lower limbs, along with normal conduction velocity and normal F wave latencies. Pattern evoked visual potentials were prolonged, on both sides, P100 being 130 ms, on right and 108 ms, on left side. In the follow up of 2 years, he showed spontaneous but gradual clinical improvement but his electrophysiological parameters as well as CD 4+ cells count did not show any significant improvement. PMID:27570393

  9. Polyneuropathy due to n-hexane.

    PubMed

    Paulson, G W; Waylonis, G W

    1976-08-01

    In 25 years, at least eight of 50 total exposed employees in a small plant developed a mild neuropathy. Studies of urine or blood for lead, arsenic, mercury, cadmium, thallium, and antimony revealed no sign of toxic agents, but the atmosphere in one room contained toxic levels of n-hexane. The sourse was the glue used in the plant. Serum cholinesterase levels were reduced, offering a possible laboratory tests to alert clinicians to the possibility of n-hexane exposure. All patients recovered completely. Mechanical and administrative adjustments should prevent such industrial accidents.

  10. Fatal familial insomnia: a new Austrian family.

    PubMed

    Almer, G; Hainfellner, J A; Brücke, T; Jellinger, K; Kleinert, R; Bayer, G; Windl, O; Kretzschmar, H A; Hill, A; Sidle, K; Collinge, J; Budka, H

    1999-01-01

    We present clinical, pathological and molecular features of the first Austrian family with fatal familial insomnia. Detailed clinical data are available in five patients and autopsy in four patients. Age at onset of disease ranged between 20 and 60 years, and disease duration between 8 and 20 months. Severe loss of weight was an early symptom in all five patients. Four patients developed insomnia and/or autonomic dysfunction, and all five patients developed motor abnormalities. Analysis of the prion protein (PrP) gene revealed the codon 178 point mutation and methionine homozygosity at position 129. In all brains, neuropathology showed widespread cortical astrogliosis, widespread brainstem nuclei and tract degeneration, and olivary 'pseudohypertrophy' with vacuolated neurons, in addition to neuropathological features described previously, such as thalamic and olivary degeneration. Western blotting of one brain and immunocytochemistry in four brains revealed quantitative and regional dissociation between PrP(res)(the protease resistant form of PrP) deposition and histopathology. In the cerebellar cortex of one patient, PrP(res) deposits were prominent in the molecular layer and displayed a peculiar patchy and strip-like pattern with perpendicular orientation to the surface. In another patient, a single vacuolated neuron in the inferior olivary nuclei contained prominent intravacuolar granular PrP(res) deposits, resembling changes of brainstem neurons in bovine spongiform encephalopathy.

  11. Familial pancreatic cancer.

    PubMed

    Klein, A P; Hruban, R H; Brune, K A; Petersen, G M; Goggins, M

    2001-01-01

    Pancreatic cancer is the fourth leading cause of cancer death in both men and women in the United States and will be responsible for an estimated 28,900 deaths in 2001. Relatively little is known of its etiology, and the only well-established risk factor is cigarette smoking. Studies over the past 3 decades have shown that 4%-16% of patients with pancreatic cancer have a family history of the disease. A small fraction of this aggregation can be accounted for in inherited cancer syndromes, including familial atypical multiple-mole melanoma, Peutz-Jeghers syndrome, hereditary breast-ovarian cancer, hereditary pancreatitis, and hereditary nonpolyposis colorectal cancer. These syndromes arise as a result of germline mutations in the BRCA2, pl6 (familial atypical multiple-mole melanoma), mismatch repair (hereditary nonpolyposis colorectal cancer), and STK11 (Peutz-Jeghers syndrome) genes. In addition, hereditary plays a role in predisposing certain patients with apparently sporadic pancreatic cancer. Many patients with pancreatic cancers caused by a germline mutation in a cancer-causing gene do not have a pedigree that is suggestive of a familial cancer syndrome. A recent prospective analysis of the pedigrees in the National Familial Pancreatic Tumor Registry found that individuals with a family history of pancreatic cancer in multiple first-degree relatives have a high risk of pancreatic cancer themselves. The identification of such high-risk individuals will help clinicians target screening programs and develop preventive interventions with the hope of reducing the mortality of pancreatic cancer in these families.

  12. 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.

  13. Opportunity NYC--Family Rewards: Qualitative Study of Family Communication

    ERIC Educational Resources Information Center

    Fraker, Carolyn A.; Greenberg, David

    2011-01-01

    Aimed at low-income families in six of New York City's highest-poverty communities, the Family Rewards program ties cash rewards to a pre-specified set of activities. This paper presents the qualitative findings from interviews with 77 families. It examines how families incorporated the program into their households, and specifically the…

  14. Family Support & Health Care: Working Together for Healthy Families.

    ERIC Educational Resources Information Center

    Lalley, Jacqueline, Ed.; Ahsan, Nilofer, Ed.

    1998-01-01

    This report of the Family Resource Coalition of America examines partnerships between family support programs and health care providers, forged to ensure that the comprehensive needs of families are met. The report begins with two articles, "Family Support and the Emerging Health System" and "Social and Economic Issues Affecting Health--A…

  15. 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;…

  16. Family Functioning in Families with Older Institutionalized Retarded Offspring.

    ERIC Educational Resources Information Center

    Kazak, Anne E.

    1989-01-01

    Psychological distress, marital satisfaction, family adaptability, and cohesion are explored in 41 families with mentally retarded (MR) institutionalized youth and 38 comparison families. Multivariate analyses found no differences between groups, but univariate analyses revealed greater cohesion in families with MR offspring and stressed the…

  17. 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…

  18. Family planning in Singapore.

    PubMed

    Kanagaratnam, K

    1968-01-01

    Since the initial voluntary efforts of the Singapore Family Planning Association in 1949, family planning in Singapore has made important progress. This effort extended over the years until the end of 1965 when the government accepted full responsibility for family planning on a national scale. In September 1965, the government announced a 5-year National Family Planning Program with the goal of reducing the birthrate from 32/1000 in 1964 to below 20/1000 by 1970. This would result in a growth rate of not more than 1.5%. The government program aims at reaching 60% of married women in the reproductive age range of 15-45. It is estimated that out of 450,000 in this age range, some 300,000 are married. The target is 180,000 in 5 years. The Singapore Family Planning & Population Board was established by an Act of Parliament and charged with responsibility for the implementation of the 5-year plan. The national program offers a menu card of all family planning methods except abortion. Initial focus was on the IUD as the method of choice for 80%. Oral contraception (OC) was the preferred alternative for the remaining 20%. Other conventonal methods also were available. A few months after the plan began in 1966, the IUD became unacceptable to Singapore women. Its side effects of bleeding, cramps, perforation, and pregnancy were exaggerated by rumors. By the middle of 1966, attendance and acceptors in the national program had declined. Emphasis in the national program was changed to OCs, which now are the mainstay of family planning. Currently, nearly 65% of the acceptors use OCs. The program also demonstrates the importance, especially in urban areas, of the tremendous impact of a postpartum family planning service. Over 70% of the births in Singapore take place at the Kandang Kerbau Maternity Hospitals. Government midwives deliver another 5%. All these women are contacted by a team of family planning workers in the postpartum period and are offered family planning. Nearly

  19. Family dynamics in biblical times: Joseph as a family psychotherapist.

    PubMed

    Ben-Noun, Liubov Louba

    2003-06-01

    Families have existed for thousands of years and are the most enduring form of small social group. This article discusses the family of Jacob as described in the Bible, and analyses the dynamics of the family system, the relationships between family members and the ways in which they interact and respond to stressful events. Such events disrupted the equilibrium of the family and led to a severe crisis, but this was eventually resolved peacefully and family members were reconciled. The story of Joseph, Jacob's son, unfolds as possibly the earliest description of a psychotherapeutic intervention to resolve a long-standing family crisis.

  20. 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.

  1. 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. PMID:12309877

  2. Familial pituitary adenomas.

    PubMed

    Vandeva, S; Vasilev, V; Vroonen, L; Naves, L; Jaffrain-Rea, M-L; Daly, A F; Zacharieva, S; Beckers, A

    2010-12-01

    Pituitary adenomas are benign intracranial neoplasms that present a major clinical concern because of hormonal overproduction or compression symptoms of adjacent structures. Most arise in a sporadic setting with a small percentage developing as a part of familial syndromes such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC), and the recently described familial isolated pituitary adenomas (FIPA) and MEN-4. While the genetic alterations responsible for the formation of sporadic adenomas remain largely unknown, considerable advances have been made in defining culprit genes in these familial syndromes. Mutations in MEN1 and PRKAR1A genes are found in the majority of MEN1 and CNC patients, respectively. About 15% of FIPA kindreds present with mutations of the aryl hydrocarbon receptor-interacting protein (AIP) gene. Mutations in the CDKN1B gene, encoding p27(Kip)¹ were identified in MEN4 cases. Familial tumours appear to differ from their sporadic counterparts not only in genetic basis but also in clinical characteristics. Evidence suggests that, especially in MEN1 and FIPA, they are more aggressive and affect patients at younger age, therefore justifying the importance of early diagnosis. In this review, we summarize the genetic and clinical characteristics of these familial pituitary adenomas. PMID:20961530

  3. [Familial multiple cavernomatosis].

    PubMed

    Terriza, F; Amrani, Y; Asencio, J J; Goberna, E; Casado, A; Peralta, J I

    1997-04-01

    We present a family study of multiple cavernomatosis which affected a boy of six, his mother and two brothers. It was seen clinically as epileptic crises, focal neurological defects and frequent headaches. In our case, the condition started as a syndrome of intracranial hypertension with progressive headache and vomiting. During the illness, localizing neurological signs due to bleeding were seen. Amongst these were acute left hemiparesia and paralysis of vertical gaze. Other members of the family remain symptom-free. In a search for angiomas at other sites none were found in the patient or his family. Recently the gene giving rise to the familial cerebral cavernosa malformation has been found to be a locus on chromosome 7. We discuss the findings on neuro-imaging, emphasizing the importance of magnetic resonance (MR) both in diagnosis and finding affected asymptomatic family members, because of its great sensitivity and specificity. Angiography is not a suitable technique for this since they behave as hidden malformations. We also point out its importance as a way of following-up the illness and for evaluation of possible complications due to progressive growth or sudden haemorrhage, which may indicate the need for treatment. Finally we emphasize the different characteristics of MR signals in this type of lesion since cavernomatasa malformations are dynamic lesions. PMID:9172920

  4. Understanding Family Interaction Patterns in Families With Alzheimer's Disease.

    PubMed

    Schaber, Patricia; Blair, Kate; Jost, Ellen; Schaffer, Molly; Thurner, Emily

    2016-01-01

    This qualitative study explores the dynamic changes that occur in family interaction patterns when Alzheimer's disease is present. Semi-structured interviews were conducted with 15 participants who have a family member with the disease. Using modified analytic induction, guided by the dimensions of the Family Fundamental Interpersonal Relations Orientation (FIRO) Model, participants shared how Alzheimer's disease affected family structure, control dynamics, and intimacy among family members. Findings demonstrate that (a) families reorganize and restructure based on geographic proximity and shifting roles, act out of filial responsibility, and strive to preserve shared meanings and rituals; (b) decision making increases around care of the person with Alzheimer's disease and shifts to the primary caregiver or other family members based on their abilities; and (c) expressions of intimacy intensify while personality is preserved in the person with the disease. The Family FIRO model can inform practitioners using family-centered care with families with Alzheimer's disease.

  5. Care for bereaved families.

    PubMed

    Fukui, S

    1994-06-01

    Because of support groups and studies on death, a new type of care for bereaved parents has been crafted over the past several decades. Support groups and medical professionals are key to this type of care. For medical professionals this job is difficult at times since individual needs may differ. But by following some basic guidelines, medical professionals can help the parents start the recovery process for they are the ones in contact with the parents at the time of death. The guidelines include giving the families complete medical information, reassurance and a chance to talk. Also, importantly, this care includes treating the baby and family with dignity and acknowledging the magnitude of the loss. In Japan most bereaved parents still go completely unassisted at the time of their baby's death. Formation of support groups and a greater awareness by medical professionals on how to care for these families will solve this problem.

  6. 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. PMID:12159262

  7. Family Research Project Progress Report.

    ERIC Educational Resources Information Center

    Bell, David C.; Bell, Linda G.

    This document presents an overview and progress report on the Family Research Project, started in 1974 to (1) study the relationship between family process and individual development of family members, especially children, (2) conceptualize and measure system level variables describing family structure and process, (3) develop microanalytic…

  8. Changes in American Family Life

    ERIC Educational Resources Information Center

    Norton, Arthur J.; Glick, Paul C.

    1976-01-01

    This article attempts to provide a factual, historical perspective on the current family situation of American children. Demographic statistics from recent decades are given which show trends toward small family size, nuclear families, one-parent families, and a higher level of education among parents. (MS)

  9. Stable Black Families. Final Report.

    ERIC Educational Resources Information Center

    Gary, Lawrence E.; And Others

    This document is the final report of a study conducted to determine what factors contribute to strong Black family life and how these strong families solve problems, in order to add to the knowledge base on stable families so as to enhance practical intervention with families in need, and to identify models of self-help strategies used by stable…

  10. 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…

  11. Characteristics of a Healthy Family.

    ERIC Educational Resources Information Center

    Lin, Phylis Lan

    The reason for studying the characteristics of a healthy family is to encourage and strengthen the family and to move toward an enriched family life by using the characteristics as bench marks. Six characteristics are discussed as the essence of a healthy family: (1) commitment; (2) togetherness; (3) appreciation; (4) good communication; (5)…

  12. 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…

  13. Work and Family. Special Focus.

    ERIC Educational Resources Information Center

    Goetz, Kathy, Ed.

    1992-01-01

    This newsletter issue focuses on issues concerning families with both parents employed outside the home and describes several employer programs designed to help employees balance their work and family life. The newsletter includes the following articles: (1) "Work and Family: 1992"; (2) "Levi Strauss and Co.--A Work/Family Program in Action"; (3)…

  14. 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…

  15. 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…

  16. Familial hemicrania continua.

    PubMed

    Weatherall, Mark W; Bahra, Anish

    2011-01-01

    There are now three known causative genes for familial hemiplegic migraine and increasing evidence to support a genetic predisposition to the more common types of migraine with and without aura, and for cluster headache. We present the first reported case of familial hemicrania continua. A mother and daughter developed hemicrania continua at the same time of life. Both showed an absolute response to indometacin and at similar doses. Both also suffered from migraine with aura. We discuss the increasing support for a genetic predisposition to dysfunction of the pain system within the brain manifesting as primary headache.

  17. Family-witnessed resuscitation.

    PubMed

    Boucher, Melanie

    2010-09-01

    Family-witnessed resuscitation is a controversial subject for healthcare professionals and support for the practice is not universal (Albarran and Stafford 1999, Kissoon 2006). Research suggests, however, that the advantages of this form of resuscitation for relatives far outweigh the disadvantages, and that hospital staff can support the practice without hindering the clinical care of patients. This article explores the ethical issues raised, as well as the views of patients, families and staff on the subject, and suggests that there should be guidelines on the practice in all emergency departments where it is likely to take place.

  18. 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…

  19. 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…

  20. Family/Individual Health.

    ERIC Educational Resources Information Center

    Texas Tech Univ., Lubbock. Home Economics Curriculum Center.

    This curriculum guide consists of materials for use in planning and delivering junior high school homemaking courses focusing on individual and family health. Discussed first are program and curriculum planning. The next chapter focuses on the special needs of handicapped and disadvantaged learners and details strategies for addressing these…

  1. 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…

  2. 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…

  3. 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.

  4. Linking Families, Building Community.

    ERIC Educational Resources Information Center

    Fowler, R. Clarke; Corley, Kathy Klebs

    1996-01-01

    A year-round magnet elementary school in Salem, Massachusetts, has increased its family involvement by borrowing elements from many models. The school has mixed-age groupings, integrated social services, and community outreach strategies such as a parent center, business-sponsored Friday clubs, and celebrations of learning. (MLH)

  5. The Welfare of Families.

    ERIC Educational Resources Information Center

    Stern, Mark J.

    1987-01-01

    Outlines the most current statistics and demographics on the increase in poverty since 1980 in the United States, the increase of single parent families headed by women, and the increasing number of children who live in poverty (currently 21 percent). The reasons for the increased poverty are cited as due to government neglect. (MD)

  6. 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…

  7. 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…

  8. Healthy Single Parent Families.

    ERIC Educational Resources Information Center

    Hanson, Shirley M. H.

    1986-01-01

    Investigated characteristics of healthy single-parent families. Single parents and their children reported fairly high levels of both physical and mental health. Communication, social support, socioeconomic status, religiousness, and problem solving were also correlated with the mental and physical health of parents and children. (Author/BL)

  9. One-Parent Families.

    ERIC Educational Resources Information Center

    Children's Bureau (DHEW), Washington, DC.

    There are thousands of men and women raising their children without the presence of the other parent. This brief booklet was written to help persons who are faced, or will be faced, with this situation. It begins with some shortened versions of discussions held with single parents and with children of one-parent families. Despite financial and…

  10. Family Support Networks.

    ERIC Educational Resources Information Center

    Frazier, Billie H.

    This document contains a brief bibliography of peer-reviewed literature, with abstracts, on family support networks. It is one of 12 bibliographies on aging prepared by the National Agricultural Library for its "Pathfinders" series of publications. Topics covered by the other 11 bibliographies include aging parents, adult children, dementia and…

  11. Children of Disrupted Families

    PubMed Central

    Robson, Bonnie E.

    1991-01-01

    While some children cope well with divorce, children of divorced parents are at increased risk for suicide, low self-esteem, affective disorders, and general distress. Useful intervention from the family physician usually begins with educating parents about what to expect and about the importance of open communication, co-operation between parents, and consistent discipline. PMID:21228993

  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. Family reaction to homicide.

    PubMed

    Burgess, A N

    1975-04-01

    This pilot study identifies a two-phased syndrome experienced by families of homicide victims. The crisis phase consists of an acute grief process, including immediate reactions to the homicide, the funeral details, and police investigations. The long-term reorganization phase includes the psychological issues of bereavement and the socio-legal issues of the criminal justice process. PMID:1146971

  14. 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,…

  15. 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…

  16. Creating Families of Readers.

    ERIC Educational Resources Information Center

    Graham, Wendy J.

    This document consists of materials developed and used by a project to research and design a prototype plan using the television program "Reading Rainbow" and the resources of the Western New York Public Broadcasting Association to cultivate family literacy. An executive summary presents findings from the six focus group discussions of the…

  17. 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…

  18. Changing Families Changing Schools.

    ERIC Educational Resources Information Center

    Evans, Robert

    The decline in civility, social responsibility, and institutional affiliation challenges the nature of schooling. Child development in the 1990s family is under pressure from changes that deny children the three basic essentials (nurture, structure, and latitude) for psychological health, effective learning, and civility, and that require children…

  19. Crowding and Family Relations

    ERIC Educational Resources Information Center

    Booth, Alan; Edwards, John N.

    1976-01-01

    The effect of household and neighborhood crowding on the relations between spouses, those between parents and children, and the relations among children are examined; a sample of urban families residing in conditions ranging from open to highly compressed provided the data for the investigation and multiple regression was used to analyze the…

  20. Connections: Writing about Family.

    ERIC Educational Resources Information Center

    Krebs, Jane P.

    1987-01-01

    Describes a teaching method in which high school sophomores (1) read A. Munro's "Connection," a short story connecting the author to her family origins; (2) interview relatives about their personal history; and (3) compose vignettes based on the notes collected during a three-week period. Provides numerous questions and prompts used to help the…

  1. Snares in Family Therapy.

    ERIC Educational Resources Information Center

    Palazzoli, Mara Selvini; Prata, Giuliana

    1982-01-01

    Discusses ways to deal with four common problems in family therapy: phone calls in general; finding the identified patient in individual therapy; the offer of secret revelations; and the role of psychoactive drugs. Presents tactics which succeed in controlling these incidents. (RC)

  2. Investing in Family Capital.

    ERIC Educational Resources Information Center

    Rothstein, Richard

    2001-01-01

    Most discussions about narrowing the achievement gap focus on ways to provide disadvantaged children with schooling comparable to that received by middle-class kids. Addressing deficiencies in children's social environment, health, housing, and family income would be more effective and would probably reduce special-education spending. (MLH)

  3. Familial cutaneous melanoma.

    PubMed

    Hansson, Johan

    2010-01-01

    Approximately 5-10 % of all cutaneous melanomas occur in families with hereditary melanoma predisposition. Worldwide, approximately 20-40% of kindreds with familial elanoma harbor germline mutations in the CDKN2A gene, located on chromosome 9p21, which encodes two different proteins, p16INK4 and p14ARF, both involved in regulation of cell cycle progression and induction of senescence. In different populations several recurring CDKN2A founder mutations have been described. The risk of melanoma in CDKN2A mutations carriers varies between populations and is higher in regions with high sun exposure and high incidence of melanoma in the general population. Some CDKN2A mutations have been associated not only with melanoma but also with increased risk of other malignancies--most notably pancreatic carcinoma. A much smaller number of families have germline mutations in the CDK4 gene on chromosome 12q14, encoding a cyclin dependent kinase which normally interacts with p16INK4A. The management of families with hereditary melanoma is discussed. PMID:20687502

  4. 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…

  5. 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…

  6. Family Play Therapy.

    ERIC Educational Resources Information Center

    Ariel, Shlomo

    This paper examines a case study of family play therapy in Israel. The unique contributions of play therapy are evaluated including the therapy's accessibility to young children, its richness and flexibility, its exposure of covert patterns, its wealth of therapeutic means, and its therapeutic economy. The systematization of the therapy attempts…

  7. Adlerian Family Therapy.

    ERIC Educational Resources Information Center

    Dinkmeyer, Don; Dinkmeyer, Don, Jr.

    1981-01-01

    Discusses the competencies basic to Adlerian therapy--including influencing psychological movement, working with the family communication system, focusing on the real issue, aligning goals and dealing with resistance, stimulating social interest, encouragement, and tentative hypotheses, and antisuggestion. A specific process for helping the family…

  8. Family Folklore Sparks Reading.

    ERIC Educational Resources Information Center

    Cheek, Earl H., Jr.

    1989-01-01

    Outlines how teachers can motivate students and narrow the gap between school and home by using students' anecdotes about their families for reading or writing activities. Notes that this exercise also helps bridge the gap between spoken and written language. (MM)

  9. 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…

  10. 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

  11. 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…

  12. 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…

  13. [Family or families? The individualization of women and the evolution of the family as an institution].

    PubMed

    Goldani, A M; Fougeyrollas-schwebel, D

    1994-10-01

    This special issue contains a section on the family in Brazil with two articles. The first, by Ana M. Goldani, examines how family characteristics in Brazil have changed since 1981 in response to the economic crises that have affected the country. The author uses census and survey data to analyze the relations between demographic trends and family characteristics. Particular attention is given to the growth of non-nuclear families, such as one-parent families. The second, by Dominique Fougeyrollas-Schwebel, also looks at changes in the family in Brazil, with particular reference to changes in women's work both within the family and in the work force.

  14. India's misconceived family plan.

    PubMed

    Jacobson, J L

    1991-01-01

    India's goal of reducing the national birth rate by 50% by the year 2000 is destined to failure in the absence of attention to poverty, social inequality, and women's subordination--the factors that serve to perpetuate high fertility. There is a need to shift the emphasis of the population control effort from the obligation of individual women to curtail childbearing to the provision of the resources required for poor women to meet their basic needs. Female children are less likely to be educated or taken for medical care than their male counterparts and receive a lower proportion of the family's food supply. This discrimination stems, in large part, from parents' view that daughters will not be able to remunerate their families in later life for such investments. The myth of female nonproductivity that leads to the biased allocation of family resources overlooks the contribution of adult women's unpaid domestic labor and household production. Although government statistics state that women comprise 46% of India's agricultural labor force (and up to 90% of rural women participate in this sector on some basis), women have been excluded systematically from agricultural development schemes such as irrigation projects, credit, and mechanization. In the field of family planning, the Government's virtually exclusive focus on sterilization has excluded younger women who are not ready to terminate childbearing but would like methods such as condoms, diaphragms, IUDs, and oral contraceptives to space births. More general maternal-child health services are out of reach of the majority of poor rural women due to long distances that must be travelled to clinics India's birth rate could be reduced by 25% by 2000 just by filling the demand for quality voluntary family planning services. Without a sustained political commitment to improve the status of women in India, however, such gains will not be sustainable.

  15. [Return to the family].

    PubMed

    Ouaidou, N G

    1993-08-01

    Sahelian countries occupy an inglorious place in the global list of human development. The human development index is superior to the gross national product (GNP) at measuring the progress of a country in terms of development, because it includes income, longevity, and educational level. The highest ranked Sahelian country holds the 114th position out of a 173 countries. The low human development index scores for the Sahel reflects the socioeconomic crisis which has overcome these countries. In 1991, only 3 of 9 Sahelian countries had a mean GP equal or superior to US$500. Just 2 countries had a life expectancy greater than 50 years. In fact, the Sahel had a lower life expectancy than all of Africa (50 years) and much lower than Asia (64 years) and Latin America (67 years). The economic crisis is worse than the cold statistics show. It destabilizes the most disadvantaged populations. The pressure it exerts often leads public authorities to adopt unpopular measures. It depreciates some sociocultural values and disintegrates traditional social structures. It is accentuated by the effects of war and drought. Internal and external migration increases even as urban hope is uncertain. For most people, the family (the traditional framework of individual development) is ready to break apart, leaving only a disincarnate nuclear entity to subsist. Yet, African history is built around the extended family: the place of reproduction, production, distribution, formation, management, perpetuation of demographic behavior, and social control. Senegal and Mali have created ministries which invest in families. The Third African Conference on Population, in 1992, chose its theme to be the relationship between family, population, and sustainable development. It is important to return to the natural or primordial framework--family--as a refuge against the economic crisis. PMID:12318645

  16. Family functioning in families with older institutionalized retarded offspring.

    PubMed

    Kazak, A E

    1989-12-01

    Psychological distress, marital satisfaction, family adaptability, and cohesion are explored in 31 families with mentally retarded (MR) institutionalized offspring (late adolescence and young adulthood) and 38 comparison families. Multivariate analyses indicate no differences between the groups, although univariate analyses point to higher levels of cohesion in the families with MR offspring and the importance of the construct of adaptability in understanding family functioning. The results are discussed in terms of the adaptive coping mechanisms of the families with MR offspring and the implications of this for intervention, research, and policy.

  17. 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…

  18. The family and family medicine: should this marriage be saved?

    PubMed

    Merkel, W T

    1983-11-01

    Although there have been many noteworthy attempts to integrate a family focus into family medicine, there is little evidence that this integration has occurred in either residency education or community practice. When the specialty was founded, a family emphasis may have been politically useful as a way to differentiate the new family physician from the old general practitioner. Now, however, it is unclear what specific family-related material should be taught or who should teach it since few family practice faculty are trained in understanding families. If a practicing family physician actually wants to see a family, practical problems concerning time, space, and money arise. Furthermore, the medicolegal system is structured to protect the confidential relationship between one patient and one physician. Other obstacles to the integration include the difficult epistemological shift required to apply systems theory, the current chaos in the family field, and family medicine's need to gain professional stature by being proficient in traditional medicine. It may be time for the family and family medicine to reconsider their well-intended but ill-advised relationship. PMID:6631349

  19. 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.

  20. The MORC family

    PubMed Central

    Li, Da-Qiang; Nair, Sujit S.; Kumar, Rakesh

    2013-01-01

    Microrchidia (MORC) is a highly conserved nuclear protein superfamily with widespread domain architectures that intimately link MORCs with signaling-dependent chromatin remodeling and epigenetic regulation. Accumulating structural and biochemical evidence has shed new light on the mechanistic action and emerging role of MORCs as epigenetic regulators in diverse nuclear processes. In this Point of View, we focus on discussing recent advances in our understanding of the unique domain architectures of MORC family of chromatin remodelers and their potential contribution to epigenetic control of DNA template-dependent processes such as transcription and DNA damage response. Given that the deregulation of MORCs has been linked with human cancer and other diseases, further efforts to uncover the structure and function of MORCs may ultimately lead to the development of new approaches to intersect with the functionality of MORC family of chromatin remodeling proteins to correct associated pathogenesis. PMID:23804034

  1. 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.

  2. Familial Cleidocranial Dysplasia

    PubMed Central

    Jindal, MK; Maheshwari, Sandhya

    2010-01-01

    Cleidocranial dysplasia or mutational dysostosis or cleidocranial dysostosis is a generalized skeletodental dysplastic disorder, inherited in an autosomal dominant pattern. The expression of this disorder can vary widely in severity, even within the same family. This is a relatively rare disease and has no standard effective treatment option as of yet. Here we present a case report of affected mother and son with classical manifestations of the disease.

  3. Familial Adenomatous Polyposis.

    PubMed

    Waller, Alexia; Findeis, Sarah; Lee, Michael J

    2016-06-01

    Familial adenomatous polyposis (FAP), caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21, is an autosomal dominant disorder characterized by hundreds to thousands of adenomas throughout the gastrointestinal tract. A variety of extraintestinal manifestations, including thyroid, soft tissue, and brain tumors, may also be present. These patients inevitably develop colorectal carcinoma by the fourth decade of life. In this review, the pathology, epidemiology, and genetic features of FAP are discussed. PMID:27617147

  4. FAMILIES CALLIPHORIDAE AND MESEMBRINELLIDAE.

    PubMed

    Wolff, Marta; Kosmann, Cecilia

    2016-01-01

    Calliphoridae and Mesembrinellidae (Diptera, Oestroidea) are very common groups of flies, the Calliphoridae with worldwide distribution and over 1,000 described species, while the Mesembrinellidae are restricted to the Neotropical Region and founded mainly in areas with undisturbed native vegetation. This catalogue presents two families: Calliphoridae, with 4 subfamilies, 31 species distributed in 12 genera, and Mesembrinellidae, with 7 genera and 21 species. PMID:27395320

  5. 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.

  6. Galileo - Ganymede Family Night

    NASA Astrophysics Data System (ADS)

    1996-06-01

    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.

  7. Sibling similarity in family formation.

    PubMed

    Raab, Marcel; Fasang, Anette Eva; Karhula, Aleksi; Erola, Jani

    2014-12-01

    Sibling studies have been widely used to analyze the impact of family background on socioeconomic and, to a lesser extent, demographic outcomes. We contribute to this literature with a novel research design that combines sibling comparisons and sequence analysis to analyze longitudinal family-formation trajectories of siblings and unrelated persons. This allows us to scrutinize in a more rigorous way whether sibling similarity exists in family-formation trajectories and whether siblings' shared background characteristics, such as parental education and early childhood family structure, can account for similarity in family formation. We use Finnish register data from 1987 through 2007 to construct longitudinal family-formation trajectories in young adulthood for siblings and unrelated dyads (N = 14,257 dyads). Findings show that family formation is moderately but significantly more similar for siblings than for unrelated dyads, also after controlling for crucial parental background characteristics. Shared parental background characteristics add surprisingly little to account for sibling similarity in family formation. Instead, gender and the respondents' own education are more decisive forces in the stratification of family formation. Yet, family internal dynamics seem to reinforce this stratification such that siblings have a higher probability to experience similar family-formation patterns. In particular, patterns that correspond with economic disadvantage are concentrated within families. This is in line with a growing body of research highlighting the importance of family structure in the reproduction of social inequality.

  8. Fostering Families' and Children's Rights to Family Connections

    ERIC Educational Resources Information Center

    Landsman, Miriam J.; Boel-Studt, Shamra

    2011-01-01

    Recent federal legislation strengthens children's and families' rights to family-centered practice by increasing the responsibility of child welfare agencies to identify and engage extended family members in providing care and support to children placed out of the home. Preliminary results from an experimental study of a federally funded family…

  9. 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)

  10. Street Men, Family Men: Race and Men's Extended Family Integration

    ERIC Educational Resources Information Center

    Sarkisian, Natalia

    2007-01-01

    Disorganization theories postulate that black men have largely abandoned their familial roles. Using the NSFH data, this article refutes the hypothesis of black men's familial disengagement by focusing on extended family integration. Black men are more likely than white men to live with or near extended kin, as well as to frequently see kin in…

  11. Family Structure, Family Processes, and Adolescent Smoking and Drinking

    ERIC Educational Resources Information Center

    Brown, Susan L.; Rinelli, Lauren N.

    2010-01-01

    This study examined whether family structure was associated with adolescent risk behaviors, including smoking and drinking. Family living arrangements have become increasingly diverse, yet research on adolescent risk behaviors has typically relied on measures of family structure that do not adequately capture this diversity. Data from the…

  12. Strengthening Family Resilience. The Guilford Family Therapy Series.

    ERIC Educational Resources Information Center

    Walsh, Froma

    Offering an alternative to clinician's prevalent focus on family dysfunction, this book draws upon extensive clinical and research experience to present a framework for therapeutic and preventive work with couples and families who are distressed, vulnerable, or at risk. The book identifies key interactional processes that enable family members to…

  13. Family Structure and Dynamics in Neglectful Families: Implications for Intervention.

    ERIC Educational Resources Information Center

    Gaudin, James M., Jr.

    To identify remedial and preventive interventions that target dysfunctional processes in the family, this study compared the structure and processes of neglectful and non-neglectful families. A sample of 102 neglectful families was identified and recruited from the caseloads of protective service workers in Georgia. A comparison group of 103…

  14. Family practice clinics. Survey of family practice residents' attitudes.

    PubMed Central

    Rubenstein, H.; Levitt, C.

    1993-01-01

    All residents of McGill University's Department of Family Medicine were surveyed by mail about their family practice clinic experience. Residents were generally satisfied with their training site and their supervision, but noted problems with volume and diversity of patients, learning certain procedures, and knowledge of community resources. They did not want more family medicine clinic time. PMID:8219838

  15. Indicators of Familial Alcoholism in Children's Kinetic Family Drawings.

    ERIC Educational Resources Information Center

    Holt, Elizabeth S.; Kaiser, Donna H.

    2001-01-01

    Attempts to delineate indicators in children's depictions of family that suggest the presence of parental alcoholism. Kinetic Family Drawings from two groups of children were collected. Statistical analysis revealed two of six items of the evaluation - depiction of isolation of self and isolation of other family members - were significantly higher…

  16. Using Our Understanding of Families to Strengthen Family Involvement

    ERIC Educational Resources Information Center

    Knopf, Herman T.; Swick, Kevin J.

    2008-01-01

    The purpose of this article is to help teachers become more responsive to the changing needs and contexts of families in their efforts to establish relationships and encourage family participation. Through this article, the authors describe the changing landscape of parenting and the stressors experienced by contemporary families. The authors then…

  17. Measuring Adaptation in Ministers' Families: The Modified Family Adaptation Scale.

    ERIC Educational Resources Information Center

    Ostrander, Diane L.; Henry, Carolyn S.

    A modification of the Family Adaptation Scale of Antonovsky and Sourani (1988), was developed for assessing the adaptation of ministers' families. A sample of 317 individuals (ministers, spouses, and children aged 8 to 18) from 135 protestant ministers' families was used to test the scale. The self-report questionnaire was tested for internal…

  18. 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 obtain mortgage insurance for the homeowner. The information strengthens HUD's ability to manage and...

  19. 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... information will have practical utility; (2) Evaluate the accuracy of the agency's estimate of the burden...

  20. Changing Families, Changing Responsibilities: Family Obligations Following Divorce and Remarriage.

    ERIC Educational Resources Information Center

    Ganong, Lawrence H.; Coleman, Marilyn

    The high incidence of divorce and remarriage means that the structure of American families is changing. Drawing on 13 studies that explore intergenerational obligations, this book discusses the responsibilities of family members to one another after divorce and remarriage. Chapter 1, "Who Is Responsible for Dependent Family Members?," presents an…

  1. Functional Family Therapy. Family Strengthening Series. Juvenile Justice Bulletin.

    ERIC Educational Resources Information Center

    Sexton, Thomas L.; Alexander, James F.

    Increases in delinquency and violence over the past decade are often rooted in a number of interrelated social problems that may originate within the family structure. The focus of this publication is the effectiveness of family intervention programs and chronicles one type of intervention, the Functional Family Therapy (FFT). FFT draws on a…

  2. Families and Family Psychology at the Millennium: Intersecting Crossroads.

    ERIC Educational Resources Information Center

    Kaslow, Florence W.

    2001-01-01

    Presents a global overview of issues and trends confronting families and family psychologists in the 21st century. Makes linkages to what psychologists can do as clinicians and researchers regarding different problems and issues, each of which is manifested at the individual, family, and societal level. Includes predictions about new and expanding…

  3. Homozygous familial hypercholesterolemia.

    PubMed

    Alicezah, M K; Razali, R; Rahman, T; Hoh, B P; Suhana, N H; Muid, S; Nawawi, H M; Koshy, M

    2014-08-01

    We report a rare case of homozygous familial hypercholesterolemia (HoFH), a 22-year-old Malay woman who presented initially with minor soft tissue injury due to a cycling accident. She was then incidentally found to have severe xanthelasma and hypercholesterolemia (serum TC 15.3 mmol/L and LDL-C 13.9 mmol/L). She was referred to the Specialized Lipid Clinic and was diagnosed with familial hypercholesterolemia (FH) based on the Simon Broome (SB) diagnostic criteria. There was a family history of premature coronary heart disease (CHD) in that three siblings had sudden cardiac death, and of consanguineous marriage in that her parents are cousins. DNA screening of LDLR and APOB genes was done by Polymerase Chain Reaction (PCR), followed by Denaturing High Performance Liquid Chromatography (DHPLC). Homozygous mutation C255S in Exon 5 of her LDLR gene was found. There was no mutation was found in Exon 26 and Exon 29 of the APOB gene. This report is to emphasize the importance of identifying patients with FH and cascade screening through established diagnostic criteria and genetic studies in order to ensure early detection and early treatment intervention to minimize the risk of developing CHD and related complications.

  4. Homozygous familial hypercholesterolemia.

    PubMed

    Alicezah, M K; Razali, R; Rahman, T; Hoh, B P; Suhana, N H; Muid, S; Nawawi, H M; Koshy, M

    2014-08-01

    We report a rare case of homozygous familial hypercholesterolemia (HoFH), a 22-year-old Malay woman who presented initially with minor soft tissue injury due to a cycling accident. She was then incidentally found to have severe xanthelasma and hypercholesterolemia (serum TC 15.3 mmol/L and LDL-C 13.9 mmol/L). She was referred to the Specialized Lipid Clinic and was diagnosed with familial hypercholesterolemia (FH) based on the Simon Broome (SB) diagnostic criteria. There was a family history of premature coronary heart disease (CHD) in that three siblings had sudden cardiac death, and of consanguineous marriage in that her parents are cousins. DNA screening of LDLR and APOB genes was done by Polymerase Chain Reaction (PCR), followed by Denaturing High Performance Liquid Chromatography (DHPLC). Homozygous mutation C255S in Exon 5 of her LDLR gene was found. There was no mutation was found in Exon 26 and Exon 29 of the APOB gene. This report is to emphasize the importance of identifying patients with FH and cascade screening through established diagnostic criteria and genetic studies in order to ensure early detection and early treatment intervention to minimize the risk of developing CHD and related complications. PMID:25194536

  5. Family planning for travellers.

    PubMed

    Rustom, A

    1990-11-01

    A public health nurse from London describes the customs of nomadic people in the British Isles, known as "travellers," as they affect provision of family planning services. Most are of British or Irish stock, some migrate and others live in caravan sites all year. Their traditions dictate that men work and women are housewives. Early, often arranged, marriage, early childbearing and large families are the norm. Sex and contraception are not considered appropriate for discussion between the sexes, or in the presence of children. Large families and financial hardship force many women to space pregnancies. Women often have to hide contraceptives from their husbands, difficult in conditions without privacy. Therefore they prefer IUDs, but some use oral contraceptives, although sometimes erratically because most are illiterate. Traveller women are usually unwilling to do self-examination, as needed with IUDs. They often have difficulty attending regular Pap smear clinics. Cervical cancer rates are high. They experience discrimination in clinics, and need extra care about modesty. It is worth while to take time to develop trust in the clinical relationship, to deal with the traveller woman's uneasy among outsiders.

  6. Nonclinical family planning programs.

    PubMed

    Bair, W D

    1978-01-01

    Reasons commonly advanced for providing family planning are the need for it as a health measure, as part of the basic human right of parents to plan their families, and as a measure to slow demographic growth. Provision of access to all couples desiring birth control, not just to the wealthy and educated, is a less frequently discussed reason. All these reasons require broad coverage in order to be effective. The author argues, using data on the relative health risks of contraceptive usage vs. pregnancy, that nonclinic distribution of contraceptives is consistent with responsible health considerations. The argument is buttressed by ethical considerations. The demand for family planning services is next considered, with the author arguing that availability of contraceptives is an important factor in increasing demand for them. The characteristics and users of nonclinic delivery systems are then discussed. Commercial distribution systems may provide services for up to 5% of women of fertile age, thus providing a useful supplement to organized and more highly subsidized programs. Noncommercial distribution -- household or community based systems -- has allowed contraceptive use to expand to levels of 20 or 25% and sometimes as high as 50%, in periods as short as a year and a half, at low cost. Community leaders have often proven to be more effective than clinic personnel in providing instruction and support to contraceptive users.

  7. 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.

  8. The family Parvoviridae.

    PubMed

    Cotmore, Susan F; Agbandje-McKenna, Mavis; Chiorini, John A; Mukha, Dmitry V; Pintel, David J; Qiu, Jianming; Soderlund-Venermo, Maria; Tattersall, Peter; Tijssen, Peter; Gatherer, Derek; Davison, Andrew J

    2014-05-01

    A set of proposals to rationalize and extend the taxonomy of the family Parvoviridae is currently under review by the International Committee on Taxonomy of Viruses (ICTV). Viruses in this family infect a wide range of hosts, as reflected by the longstanding division into two subfamilies: the Parvovirinae, which contains viruses that infect vertebrate hosts, and the Densovirinae, encompassing viruses that infect arthropod hosts. Using a modified definition for classification into the family that no longer demands isolation as long as the biological context is strong, but does require a near-complete DNA sequence, 134 new viruses and virus variants were identified. The proposals introduce new species and genera into both subfamilies, resolve one misclassified species, and improve taxonomic clarity by employing a series of systematic changes. These include identifying a precise level of sequence similarity required for viruses to belong to the same genus and decreasing the level of sequence similarity required for viruses to belong to the same species. These steps will facilitate recognition of the major phylogenetic branches within genera and eliminate the confusion caused by the near-identity of species and viruses. Changes to taxon nomenclature will establish numbered, non-Latinized binomial names for species, indicating genus affiliation and host range rather than recapitulating virus names. Also, affixes will be included in the names of genera to clarify subfamily affiliation and reduce the ambiguity that results from the vernacular use of "parvovirus" and "densovirus" to denote multiple taxon levels. PMID:24212889

  9. The family Parvoviridae

    PubMed Central

    Agbandje-McKenna, Mavis; Chiorini, John A.; Mukha, Dmitry V.; Pintel, David J.; Qiu, Jianming; Soderlund-Venermo, Maria; Tattersall, Peter; Tijssen, Peter; Gatherer, Derek; Davison, Andrew J.

    2013-01-01

    A set of proposals to rationalize and extend the taxonomy of the family Parvoviridae is currently under review by the International Committee on Taxonomy of Viruses (ICTV). Viruses in this family infect a wide range of hosts, as reflected by the longstanding division into two subfamilies: the Parvovirinae, which contains viruses that infect vertebrate hosts, and the Densovirinae, encompassing viruses that infect arthropod hosts. Using a modified definition for classification into the family that no longer demands isolation as long as the biological context is strong, but does require a near-complete DNA sequence, 134 new viruses and virus variants were identified. The proposals introduce new species and genera into both subfamilies, resolve one misclassified species, and improve taxonomic clarity by employing a series of systematic changes. These include identifying a precise level of sequence similarity required for viruses to belong to the same genus and decreasing the level of sequence similarity required for viruses to belong to the same species. These steps will facilitate recognition of the major phylogenetic branches within genera and eliminate the confusion caused by the near-identity of species and viruses. Changes to taxon nomenclature will establish numbered, non-Latinized binomial names for species, indicating genus affiliation and host range rather than recapitulating virus names. Also, affixes will be included in the names of genera to clarify subfamily affiliation and reduce the ambiguity that results from the vernacular use of “parvovirus” and “densovirus” to denote multiple taxon levels. PMID:24212889

  10. 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. PMID:9531859

  11. Veterans and Military Family Health

    MedlinePlus

    Service members and veterans face some different health issues from civilians. Their families also face some unique challenges. Families may have to cope with Separation from their loved ones Anxiety over ...

  12. Genetics Home Reference: familial cylindromatosis

    MedlinePlus

    ... with the skin (skin appendages), such as hair follicles and sweat glands . People with familial cylindromatosis typically ... are now generally believed to begin in hair follicles. Individuals with familial cylindromatosis occasionally develop other types ...

  13. Family Homeostasis and the Physician

    PubMed Central

    Jackson, Don D.

    1965-01-01

    Physical illness, including psychosomatic disorders, often play an unexpected role in maintaining emotional balances within the family. The outbreak of such disorders, conversely, can be utilized by the physician as a barometer of family emotional difficulties. PMID:5828172

  14. Cybernetics of Brief Family Therapy.

    ERIC Educational Resources Information Center

    Keeney, Bradford P.; Ross, Jeffrey M.

    1983-01-01

    Presents a cybernetic view of brief family therapy. Includes a historical discussion of the key ideas underlying brief family therapy, a cybernetic model of therapeutic change, and a clinical case for exemplification. (Author/JAC)

  15. Does Addiction Run in Families?

    MedlinePlus

    ... runs in some families. Addiction runs in ours." Matt's family has a history of addiction. He realizes ... may be more likely to become addicted. Read Matt's story About the National Institute on Drug Abuse ( ...

  16. Family Research: An Ethnographic Approach

    PubMed Central

    Stein, Howard F.

    1991-01-01

    An ethnographic approach based on in-depth interviewing, naturalistic and participant observation, narrative description, and contextual interpretation is proposed as a tool for family health care research. The multiple meanings of family, both for research clinicians and for society, are considered. The problem of how a family orientation is incorporated into biomedical' health care is discussed. PMID:21229058

  17. Getting to Know ELLs' Families

    ERIC Educational Resources Information Center

    Breiseth, Lydia

    2016-01-01

    Most English language learners are from families that have recently immigrated to the United States-and many of those families traveled here at tremendous risk to seek better education for their children. It's important for classroom teachers to make building relationships with the families of ELLs a priority. Breiseth asserts that the most…

  18. Family Interventions in Physical Health

    PubMed Central

    Campbell, Thomas L.

    1991-01-01

    As we begin to understand the relationships between family interaction and physical health, we can develop interventions that focus on education, support, and problem solving. The author reviews existing research on family interventions in physical health and proposes guidelines for developing, implementing, and studying family interventions. PMID:21229055

  19. NASA Science Served Family Style

    NASA Astrophysics Data System (ADS)

    Noel-Storr, Jacob; Mitchell, S.; Drobnes, E.

    2010-01-01

    Family oriented innovative programs extend the reach of many traditional out-of-school venues to involve the entire family in learning in comfortable and fun environments. Research shows that parental involvement is key to increasing student achievement outcomes, and family-oriented programs have a direct impact on student performance. Because families have the greatest influence on children's attitudes towards education and career choices, we have developed a Family Science program that provides families a venue where they can explore the importance of science and technology in our daily lives by engaging in learning activities that change their perception and understanding of science. NASA Family Science Night strives to change the way that students and their families participate in science, within the program and beyond. After three years of pilot implementation and assessment, our evaluation data shows that Family Science Night participants have positive change in their attitudes and involvement in science.  Even after a single session, families are more likely to engage in external science-related activities and are increasingly excited about science in their everyday lives.  As we enter our dissemination phase, NASA Family Science Night will be compiling and releasing initial evaluation results, and providing facilitator training and online support resources. Support for NASA Family Science Nights is provided in part through NASA ROSES grant NNH06ZDA001N.

  20. Gender effects in familial cancer.

    PubMed

    Hemminki, Kari; Li, Xinjun

    2002-11-10

    Very limited data are available on sex ratios in familial cancer. Such data would be valuable in the assessment of sex chromosome effects and of interactions between background and familial rates. We used the nationwide Swedish Family-Cancer Database on 10.2 million individuals and over 1 million neoplasms to analyze familial risks for male and female offspring by paternal and maternal concordant cancer. Sex ratios for familial cancer were derived for cancer at 15 sites shared by men and women. At 14 sites the sex ratio (male/female) for familial relative risk ranged between 0.78 and 1.41, with no evidence of sex preference, suggesting that sex chromosomes do not contribute to a noticeable extent to familial risks. Furthermore, in cancers where the background incidence varied extensively by sex, such as bladder cancer (sex ratio 2.82) and nonthyroid endocrine tumors (0.65), the familial effect was proportionate to the background incidence and the familial sex ratio was close to unity. In thyroid cancer, the familial sex ratio was 2.48 (1.54-3.98) and the background incidence ratio was 0.31. This was the first evidence of an inverse sex ratio in primary cancer, i.e., higher familial risk in the gender of low background risk. The high familial ratio, 2.85 (95% CI: 1.35-6.03), was due to thyroid adenocarcinoma, encompassing both papillary and follicular types.

  1. Family member interventions: research challenges.

    PubMed

    Leske, J S

    1991-07-01

    Numerous descriptive studies have provided a base for developing and testing interventions for family members after a critical illness event. The challenges of designing, conducting, and using research-based interventions for families are invitation for the researcher. Critical care nurses have much to offer and do make a difference with families. Accept the challenges! PMID:2071430

  2. Changes in American Family Life.

    ERIC Educational Resources Information Center

    Saluter, Arlene F.

    1989-01-01

    This report provides a graphic overview of recent trends in the lifestyles of Americans which suggest a movement away from "traditional" family living. The charts in this report with their limited commentary, summarize major trends and focus on families with children present. Data are also presented on other types of families, households, and…

  3. Family Day Care Provider Handbook

    ERIC Educational Resources Information Center

    New York State Office of Children and Family Services, 2006

    2006-01-01

    Family day care providers are responsible for creating a high-quality program where children have opportunities to grow, learn and thrive. Part of providing high-quality child care includes complying with the family day care regulations from the New York State Office of Children and Family Services (OCFS). This Handbook will help day care…

  4. Families with Special Health Needs.

    ERIC Educational Resources Information Center

    Texas Tech Univ., Lubbock. Home Economics Curriculum Center.

    This document contains teacher's materials for a five-unit secondary education vocational home economics course on families with special health needs. The units cover: (1) family health needs (including the impact of special needs on financial well-being, the impact on the psychological health of the family, and the relationship of society to…

  5. [Family dynamics of autistic children].

    PubMed

    Sprovieri, M H; Assumpção, F B

    2001-06-01

    We studied 15 families with autistics, 15 with Down's syndrome and 15 asymptomatic children. Patients' age ranged from 5 to 15 years-old. The parents of these three families' groups were appraised in regard to their family dynamics, to relate those symptoms to the functioning of an autistic family, in a comparative study. Details were provided of the families, the overall autistic features, the autistic's family, the family and the mental health, their limitations and difficulties throughout the vital cycle. An attempt was made to locate the factors that aid the family in hindering the healthy emotional development of its members. The field research was achieved by use of the instruments of the Family Dynamics Evaluation, (Carneiro, 1983). The data gathered were statistically compared. Considering the family population studied (n = 45), we found that the autistics' families and victims of Down's syndrome made it difficult to sustain the emotional health of group members. We conclude that the autistic's family dynamics caused difficulties to the emotional health of the group's members. PMID:11400032

  6. Family Therapy and Psychosomatic Illness.

    ERIC Educational Resources Information Center

    Waring, Edward M.

    1980-01-01

    Reviews the use of family therapy in dealing with illnesses such as childhood diabetes, asthma, pain, and anorexia nervosa. Marital and family therapy may be effective in treating some psychosomatic problems. Family assessment is helpful in the management of all psychosomatic problems. (Author/JAC)

  7. Families & School. Best of "set."

    ERIC Educational Resources Information Center

    Podmore, Valerie N., Ed.; Richards, Llyn, Ed.

    Published to celebrate the United Nations' International Year of the Family, this special issue presents selected articles from "set," a twice yearly journal of research information for teachers. These articles look at the contribution of educational research on the relationships between schools and families, and families and learning in Australia…

  8. Essential Allies: Families as Advisors.

    ERIC Educational Resources Information Center

    Jeppson, Elizabeth S.; Thomas, Josie

    This guide is intended to help those providing services to infants and young children with special needs to work more effectively and collegially with family members at the program and policy level. The guide stresses the benefits and barriers to family participation in advisory activities and offers guidelines for promoting family participation.…

  9. Family Textbooks Twelve Years Later

    ERIC Educational Resources Information Center

    Glenn, Norval D.

    2009-01-01

    In 1996 the author conducted an intensive study of twenty current family textbooks published in the United States, the results of which appeared in an academic journal article and a nonacademic report in 1997. The study included practical "functionalist" marriage and family textbooks and more academic sociology of the family books; these works…

  10. Theme Section: Focus on Families.

    ERIC Educational Resources Information Center

    Ungar, Manya; And Others

    1988-01-01

    A collection of 14 brief articles considers the effects of family environment and lifestyle on children and provides suggestions for healthier family relations. The articles cover such topics as: family stress; preschool academic programs; stepfamilies; corporate child care; fathers; divorce; only children; single and working parents; and death.…

  11. Family identity: black-white interracial family health experience.

    PubMed

    Byrd, Marcia Marie; Garwick, Ann Williams

    2006-02-01

    The purpose of this interpretive descriptive study was to describe how eight Black-White couples with school-aged children constructed their interracial family identity through developmental transitions and interpreted race to their children. Within and across-case data analytic strategies were used to identify commonalities and variations in how Black men and White women in couple relationships formed their family identities over time. Coming together was the core theme described by the Black-White couples as they negotiated the process of forming a family identity. Four major tasks in the construction of interracial family identity emerged: (a) understanding and resolving family of origin chaos and turmoil, (b) transcending Black-White racial history, (c) articulating the interracial family's racial standpoint, and (d) explaining race to biracial children across the developmental stages. The findings guide family nurses in promoting family identity formation as a component of family health within the nurse-family partnership with Black-White mixed-race families.

  12. Explaining Family Change and Variation: Challenges for Family Demographers

    PubMed Central

    Seltzer, Judith A.; Bachrach, Christine A.; Bianchi, Suzanne M.; Bledsoe, Caroline H.; Casper, Lynne M.; Chase-Lansdale, P. Lindsay; DiPrete, Thomas A.; Hotz, V. Joseph; Morgan, S. Philip; Sanders, Seth G.; Thomas, Duncan

    2010-01-01

    Twenty years ago, the National Institute of Child Health and Human Development (NICHD) issued a request for proposals that resulted in the National Survey of Families and Households (NSFH), a unique survey valuable to a wide range of family scholars. This paper describes the efforts of an interdisciplinary group of family demographers to build on the progress enabled by the NSFH and many other theoretical and methodological innovations. Our work, also supported by NICHD, will develop plans for research and data collection to address the central question of what causes family change and variation. We outline the group's initial assessments of orienting frameworks, key aspects of family life to study, and theoretical and methodological challenges for research on family change. Finally, we invite family scholars to follow our progress and to help develop this shared public good. PMID:20376277

  13. Research Methodology of Family-Oriented Care

    PubMed Central

    Ransom, Donald C.

    1991-01-01

    Family practice and family-centered primary care have a special role in studying the family. A framework for conceptualizing research on families and health, illness, and care is presented. The author discusses ways in which families can influence the health of their members, current controversies about what family means, the logic of family research measurements, whether family research is warranted, and the question of variable-versus case- (person- versus family-) centered research design and analysis. PMID:21229057

  14. [Family warmth cures].

    PubMed

    Inthamun, P

    1996-04-01

    Women in Thailand are increasingly finding themselves responsible for caring for the physical and mental health of HIV-infected men. The author gained such experience caring for her husband, while her suffering since youth of a series of chronic illnesses helped her to understand that life is full of surprises. Moreover, meditation also helps her to squarely confront problems as they arise, such as when she learned that she contracted HIV from her husband 5 years ago. The author then learned about AIDS and attended, together with her husband, conferences on HIV/AIDS to learn how to care for them both. She also enrolled in a Red Cross program on in-home care. In 1994, the husband returned home from the hospital in poor health, with little time left to live. However, surrounded by the warmth and affection of home, friends, and family, the man¿s health status improved to the extent that his opportunistic diseases disappeared. Since that experience, the author visits other households where people are living with AIDS in an attempt to bring them moral support, to teach about in-home care, and to coordinate hospital care when needed. The author now knows that HIV-seropositive people can contribute considerably to help the lives of both others living with AIDS and the general community. She is determined to show that families working together can reduce the level of suffering experienced by HIV-infected individuals and that such people will survive longer through families¿ efforts.

  15. The Hedgehog protein family.

    PubMed

    Bürglin, Thomas R

    2008-01-01

    The Hedgehog (Hh) pathway is one of the fundamental signal transduction pathways in animal development and is also involved in stem-cell maintenance and carcinogenesis. The hedgehog (hh) gene was first discovered in Drosophila, and members of the family have since been found in most metazoa. Hh proteins are composed of two domains, an amino-terminal domain HhN, which has the biological signal activity, and a carboxy-terminal autocatalytic domain HhC, which cleaves Hh into two parts in an intramolecular reaction and adds a cholesterol moiety to HhN. HhC has sequence similarity to the self-splicing inteins, and the shared region is termed Hint. New classes of proteins containing the Hint domain have been discovered recently in bacteria and eukaryotes, and the Hog class, of which Hh proteins comprise one family, is widespread throughout eukaryotes. The non-Hh Hog proteins have carboxy-terminal domains (the Hog domain) highly similar to HhC, although they lack the HhN domain, and instead have other amino-terminal domains. Hog proteins are found in many protists, but the Hh family emerged only in early metazoan evolution. HhN is modified by cholesterol at its carboxyl terminus and by palmitate at its amino terminus in both flies and mammals. The modified HhN is released from the cell and travels through the extracellular space. On binding its receptor Patched, it relieves the inhibition that Patched exerts on Smoothened, a G-protein-coupled receptor. The resulting signaling cascade converges on the transcription factor Cubitus interruptus (Ci), or its mammalian counterparts, the Gli proteins, which activate or repress target genes.

  16. Balancing family and work

    NASA Astrophysics Data System (ADS)

    Showstack, Randy

    2011-08-01

    More than 45% of women scientists at top universities in the United States have indicated that their careers have kept them from having as many children as they want, according to an 8 August study, “Scientists want more children,” which appears in the journal PLoS ONE. The study, by sociologists Elaine Howard Ecklund of Rice University and Anne Lincoln of Southern Methodist University, indicates that 24.5% of male scientists surveyed indicated the same concerns. The study also found that among junior scientists, 29% of women indicated concern that a science career would prevent them from having a family; 7% of men indicated the same concern.

  17. The SEQUEST Family Tree

    NASA Astrophysics Data System (ADS)

    Tabb, David L.

    2015-11-01

    Since its introduction in 1994, SEQUEST has gained many important new capabilities, and a host of successor algorithms have built upon its successes. This Account and Perspective maps the evolution of this important tool and charts the relationships among contributions to the SEQUEST legacy. Many of the changes represented improvements in computing speed by clusters and graphics cards. Mass spectrometry innovations in mass accuracy and activation methods led to shifts in fragment modeling and scoring strategies. These changes, as well as the movement of laboratories and lab members, have led to great diversity among the members of the SEQUEST family.

  18. Galileo - Ganymede Family Night

    NASA Astrophysics Data System (ADS)

    1996-06-01

    When the Galileo spacecraft flew by Ganymede, Jupiter's and the solar system's largest satellite, on June 26, 1996, the project scientists and engineers gather with their friends and family to view the photos as they are received and to celebrate the mission. This videotape presents that meeting. Representatives from the various instrument science teams discuss many of the instruments aboard Galileo and show videos and pictures of what they have seen so far. This video is continued on Videotape number NONP-NASA-VT-2000036028.

  19. Familial idiopathic cerebral calcifications.

    PubMed Central

    Boller, F; Boller, M; Gilbert, J

    1977-01-01

    Nine members of a family spanning three generations showed bilateral calcifications of the basal ganglia with autosomal dominant inheritance. Two members developed chorea, dementia, and a characteristic speech disturbance (palialalia) in the third or fourth decade. A third member possibly shows the initial stage of a similar syndrome. Six members with calcifications but without neurological signs are younger than 25 years. All nine patients had normal calcium and phosphorus, and no evidence of endocrinological or somatic abnormalities. Thie 'isiopathic' picture must be differentiated from hypoparathyroidism and pseudohypoparathyroidism. Images PMID:886353

  20. [Family and chronic paediatric illness].

    PubMed

    Grau Rubio, Claudia; Fernández Hawrylak, M

    2010-01-01

    Pediatric illnesses are always a family problem. Hospitalization, treatments and their long term consequences constitute a challenge for the family. In this paper, we describe the structural, procedural and emotional alterations that affect the family dynamic. We argue that the child should be treated within the family context and propose a multi-dimensional intervention model centered on the family's singularities and specific needs, the support available in their environment, the development of capacities and resilience, and also the organization of user-centered services that are coordinated with all the services provided by the community.