Multifocal motor neuropathy.

Purpose Of Review: Multifocal motor neuropathy (MMN) remains a difficult issue for neurologists, as its clinical and electrophysiological presentation may be atypical, and because no alternative treatment to periodic immunoglobulin infusions has been assessed in its long-term management. This review intends to summarize the most recent advances in the diagnosis and treatment of MMN.

Recent Findings: Recent reports have focused on atypical onset and unusual clinical presentation.

Efficient metal-free synthesis of various pyrido[2',1':2,3]imidazo- [4,5-b]quinolines.

Dancing with diversity: The synthesis of diverse pyrido[2',1':2,3]imidazo[4,5-b]quinolines bearing several substitution patterns was developed based on combining a multicomponent reaction (Groebke-Blackburn-Bienaymé reaction) with an original cyclization as a secondary transformation (see scheme; DBU = 1,8-diazabicyclo[5.4.0]undec-7-ene).

Monocentric study of 112 consecutive patients with childhood onset GH deficiency around and after transition.

Objectives: Our aim was to analyze a large cohort of childhood onset GH deficiency (CO-GHD) adults from a unique adult center, in order to analyze their clinical management and to study the metabolic and bone status in relation to GHD and to the other pituitary deficits, and to evaluate these parameters during the long-term follow-up.

Design And Methods: Observational retrospective cohort study on 112 consecutive CO-GHD adults transferred to our unit from 1st January 1994 to 1st March 2012. Evaluation of GHD in pediatrics and after transition was conducted following consensus guidelines.

Sensitivity and predictive value of anti-GM1/galactocerebroside IgM antibodies in multifocal motor neuropathy.

Background: Increased titres of serum IgM antibodies to GM1 ganglioside are often associated with multifocal motor neuropathy (MMN). Testing for IgM antibodies to other antigens including GM2, the mixture of GM1 and galactocerebroside (GM1/GalC) and the disulfated heparin disaccharide NS6S were reported to increase the sensitivity of antibody testing in MMN even if it is unclear whether the specificity and positive (PPV) or negative predictive value (NPV) for MMN were also affected.

Methods: We measured IgM antibodies to GM1, GM2, galactocerebroside, GM1/GalC and NS6S in 40 consecutive patients with MMN and 142 controls with other neuropathies or related diseases and compared their sensitivity, specificity and PPV for MMN.

Putting the biological species concept to the test: using mating networks to delimit species.

Although interfertility is the key criterion upon which Mayr's biological species concept is based, it has never been applied directly to delimit species under natural conditions. Our study fills this gap. We used the interfertility criterion to delimit two closely related oak species in a forest stand by analyzing the network of natural mating events between individuals.

[Effect of SSRIs on bone metabolism].

Introduction: SSRIs have been shown to affect bone health in adults, but this has been poorly studied in children. Given the frequency of SSRI prescription in children and adolescents, it is crucial to evaluate the impact of SSRIs on bone growth because the bone mass attained early in life is the most important predictor of a normal bone constitution. Experimental studies have demonstrated a direct functional role of serotonin in bone metabolism, independently of hyperprolactinemia or growth hormone levels.

Efficacy and safety of Privigen(®) in patients with chronic inflammatory demyelinating polyneuropathy: results of a prospective, single-arm, open-label Phase III study (the PRIMA study).

This prospective, multicenter, single-arm, open-label Phase III study aimed to evaluate the efficacy and safety of Privigen(®) (10% liquid human intravenous immunoglobulin [IVIG], stabilized with L-proline) in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Patients received one induction dose of Privigen (2 g/kg body weight [bw]) and up to seven maintenance doses (1 g/kg bw) at 3-week intervals. The primary efficacy endpoint was the responder rate at completion, defined as improvement of ≥1 point on the adjusted Inflammatory Neuropathy Cause and Treatment (INCAT) disability scale.

Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study.

Context: Untreated hypothyroidism is known to impair hearing, but little is known about the long-term hearing of patients treated for congenital hypothyroidism (CH) since the neonatal period.

Objective: The purpose of this study was to assess hearing and its determinants in a population-based registry of young adult patients with CH.

Design, Setting, And Participants: Self-declared hearing loss was evaluated in 1202 of the 1748 eligible patients with CH who completed a questionnaire on health status at a median age of 23.

Placebo-controlled trial of rituximab in IgM anti-myelin-associated glycoprotein neuropathy.

Objective: To determine whether rituximab 375 mg/m(2) was efficacious in patients with immunoglobulin M (IgM) anti-myelin-associated glycoprotein antibody demyelinating neuropathy (IgM anti-MAG demyelinating neuropathy).

Methods: Fifty-four patients with IgM anti-MAG demyelinating neuropathy were enrolled in this randomized, double-blind, placebo-controlled trial. The inclusion criteria were inflammatory neuropathy cause and treatment (INCAT) sensory score (ISS) ≥4 and visual analog pain scale >4 or ataxia score ≥2.

Multifocal motor neuropathy.

Multifocal motor neuropathy (MMN) is a chronic immune-mediated neuropathy that is particular for its asymmetric, multifocal, purely motor clinical presentation, often related to the distribution of individual nerves. Upper limbs are usually primarily and more severely affected, but lower limbs may be involved during the course of the disease. The hallmark of the disease is the presence, in electrophysiological studies, of persistent conduction blocks in the affected motor nerves, located outside the usual sites of nerve compression, contrasting with normal sensory nerve conduction velocities.

The spectrum of type I cryoglobulinemia vasculitis: new insights based on 64 cases.

Type I cryoglobulinemia vasculitis (CryoVas) is considered a life-threatening condition; however, data on the characteristics and outcome are scarce. To analyze the presentation, prognosis, and efficacy and safety of treatments of type I CryoVas, we conducted a French nationwide survey that included 64 patients with type I CryoVas between January 1995 and July 2010: 28 patients with monoclonal gammopathy of unknown significance (MGUS) and 36 with hematologic malignancy.Type I monoclonal CryoVas was characterized by severe cutaneous involvement (necrosis and ulcers) in almost half the patients and high serum cryoglobulin levels, contrasting with a lower frequency of glomerulonephritis than expected.

Sensory chronic inflammatory demyelinating polyneuropathy: an under-recognized entity?

Introduction: Sensory chronic inflammatory demyelinating polyneuropathy (CIDP) can be difficult to diagnose.

Methods: We report 22 patients with chronic sensory polyneuropathy with ≥1 clinical sign atypical for chronic idiopathic axonal polyneuropathy (CIAP) but no electrodiagnostic criteria for CIDP.

Results: Clinical signs atypical for CIAP were: sensory ataxia (59%), generalized areflexia (36%), cranial nerve involvement (32%), rapid upper limb involvement (40%), and age at onset ≤55 years (50%).

All-cause and disease-specific mortality and morbidity in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study.

Context: Little is known about the long-term health of patients treated for congenital hypothyroidism since the neonatal period.

Objective: To evaluate the causes of mortality and comorbidity in a population-based registry of young adult patients.

Design, Setting, And Participants: All 1772 eligible patients diagnosed during the first decade after the introduction of neonatal screening in France participated in the study.

Pharmaceutical development and optimization of azithromycin suppository for paediatric use.

Pharmaceutical development and manufacturing process optimization work was undertaken in order to propose a potential paediatric rectal formulation of azithromycin as an alternative to existing oral or injectable formulations. The target product profile was to be easy-to-use, cheap and stable in tropical conditions, with bioavailability comparable to oral forms, rapidly achieving and maintaining bactericidal concentrations. PEG solid solution suppositories were characterized in vitro using visual, HPLC, DSC, FTIR and XRD analyses.

Hyperthyroidism in childhood: causes, when and how to treat.

Graves' disease (GD) is the most common cause of hyperthyroidism in children. This review gives an overview and update of management of GD. Antithyroid drugs (ATD) are recommended as the initial treatment, but the major problem is the high relapse rate (30%) as remission is achieved after a first course of ATD.

Efficient synthesis and first regioselective C-3 direct arylation of imidazo[1,2-b]pyrazoles.

Highly regioselective: An efficient synthesis of the imidazo[1,2-b]pyrazole core has been developed, and the first regioselective palladium-catalyzed direct arylation of the C-3 position is described (see scheme). Good to excellent yields were obtained for a wide range of aryl partners with electron-rich and electron-poor substituents. This methodology allows rapid access to a large variety of imidazo[1,2-b]pyrazole products and could open the way to the design of new biologically active compounds.

Measuring aberrations in the rat brain by coherence-gated wavefront sensing using a Linnik interferometer.

Aberrations limit the resolution, signal intensity and achievable imaging depth in microscopy. Coherence-gated wavefront sensing (CGWS) allows the fast measurement of aberrations in scattering samples and therefore the implementation of adaptive corrections. However, CGWS has been demonstrated so far only in weakly scattering samples.

Unilateral cryptorchidism in mice mutant for Ptgds.

The pathophysiology of cryptorchidism, abnormal testicular descent, remains poorly understood. In this study, we show that both heterozygous and homozygous mice deficient for lipocalin-type prostaglandin D(2) (PGD(2) ) synthase (Ptgds) presented unilateral cryptorchidism affecting the second phase of testicular descent in 16% and 24% of cases, respectively. The adult cryptorchid testes show an increase in spermatogonia apoptosis along with a global decrease in the tubule size parameters, whereas the gubernaculum of newborn mutants present some histological abnormalities.