Choosing the proper implant for extra-articular fractures of proximal phalanges: A study on 75 cases.

INTRODUCTION: Phalangeal fractures are the most common fractures of the hand and in particular the proximal phalanx of the long fingers is the most involved. These fractures can ben conservatively managed but, when the fracture pattern is considered unstable, surgical treatment is recommended. However, there is no consensus in literature about the proper surgical option for extra-articular proximal phalanx fractures. MATERIAL AND METHODS: We compared clinical and radiographical results after treatment of 75 cases of extra-articular proximal phalanx fractures using three different surgical techniques: closed reduction and internal fixation (CRIF) with Kirschner wires (G1 group), open reduction internal fixation (ORIF) with plates and screws or lag screws (G2 group), and closed reduction and intramedullary screw fixation (CRIMEF)(G3 group). RESULTS: We found no significant differences in term of union rate and time to fracture healing between the three groups. However, we found a significant reduction in time to return at work and in TAM at the final follow-up examination in G3 group (treated with CRIMEF) when compared with both G1 and G2. No differences in complications rate were found between three groups. DISCUSSION: The surgical variability in the management of extra-articular phalanx fractures create lacks on standard guide for treatment. CONCLUSIONS: In conclusion, our results showed good clinical and radiographical results with all the three surgical options. However, the closed reduction and internal fixation with intramedullary screws (CRIMEF) seems to be better in terms of time to return to work and TAM at the final follow-up, probably due to good primary stability and little risk of soft tissue adherence development.

Sensory neuronopathy is a specific and disabling neurological manifestation of autoimmune hepatitis.

BACKGROUND AND PURPOSE: Neurological manifestations have been identified in the context of autoimmune hepatitis (AIH). Previous case reports highlighted the association between AIH and sensory neuronopathy (SN). Despite that, little is known about the frequency of AIH-related SN and its clinical/neurophysiological profile. Moreover, it is not clear whether SN is an AIH-specific manifestation or related to chronic liver damage. METHODS: Seventy consecutive AIH patients were enrolled and their characteristics were compared with 52 consecutive patients with chronic active hepatitis B. All subjects underwent clinical and neurophysiological evaluation. Further comparisons were performed between AIH SN and AIH non-SN patients. RESULTS: Mean ages and male:female proportions in the AIH and chronic active hepatitis B groups were 42.2 ± 16.3/51.7 ± 13.6 years and 14:56/29:23, respectively. The frequencies of carpal tunnel syndrome, radiculopathy and polyneuropathy were similar between groups. In contrast, SN was identified only in AIH patients (5/70 vs. 0/52, P = 0.04); the overall prevalence of AIH-related SN was 7% with an average profile of a woman in her 40s with asymmetric onset of sensory deficits that chronically evolved to disabling proprioceptive ataxia associated with marked dysautonomia. Neurological disability and hepatocellular damage did not follow in parallel. Anti-fibroblast growth factor receptor type 3 antibodies were found in 3/5 (60%) of the patients with AIH-related SN. Clinical or demographic predictors of SN in the context of AIH could not be identified. CONCLUSION: Sensory neuronopathy, but not other peripheral nervous system diseases, is a specific AIH neurological manifestation. It is often disabling and, in contrast to hepatocellular injury, does not respond to immunosuppression.

Percutaneous headless screws and wide-awake anesthesia to fix metacarpal and phalangeal fractures: outcomes of the first 56 cases.

Phalangeal (P) and metacarpal (MC) fractures are very common injuries, with potentially disabling, residual impairment, deformities or stiffness. Conservative treatment represents the strategy of choice in most cases, but in unstable fractures and/or high-demanding patients, surgical fixation could be required. Ideally, the best treatment choice will be the intramedullary fixation systems, if possible without the implant protruding from the skin. Intramedullary headless screw fixation could be the reliable option to achieve a primary fixation, allowing an early active movement, with regard to the fractures site. The Authors analyzed the results achieved after 56 extra-articular unstable fractures (31 phalangeal fracture and 25 metacarpal fracture) treated with intramedullary headless compression screws. After surgery, patients underwent early mobilization without splinting. The results of the study suggest that this technique could be a reliable therapeutic option in order to obtain early mobilization and quick return to work after a phalangeal or metacarpal fracture, especially for high-demanding patients.

Compressive Femoral Neuropathy Associated with Iliopsoas Hematoma Complicating Hip Hemiarthroplasty: A Case Report.

INTRODUCTION: Femoral nerve compression caused by iliopsoas hematoma is a rare complication after hip surgery. To the best of our knowledge, this is the first case after hemiarthroplasty. In this case, iliacus hematoma resulted from spontaneous bleeding favored by anticoagulant therapy. CASE REPORT: A 78-year-old female developed left groin pain associated with typical symptoms of femoral nerve palsy about 2weeks after left hip hemiarthroplasty[1, 2, 3]. Computed tomography revealed the presence of a left iliopsoas hematoma that was surgically drained. Inguinal pain was immediately relieved, while nerve palsy recovered only partially, but the quality of life drastically improved and she was able to walk using a walker without pain. CONCLUSION: Even if it is a rare condition, the formation of a hematoma of iliopsoas muscle should be considered in patients that present symptoms of femoral nerve palsy, especially if treated with heparin or other anticoagulant drugs. Surgical drainage of the hematoma is indicated when symptoms are severe and disabling, and in this way, surgery could improve quality of life.

Genetic profile of Brazilian patients with dystrophinopathies.

Different types of mutations in the DMD gene underlie Duchenne muscular dystrophies (DMD) and Becker muscular dystrophies (BMD). Large deletions and duplications are the most frequent causative genetic alterations worldwide, but little is known about DMD/BMD genetic profile in Brazil. Hence, we recruited patients with DMD and BMD from 8 neuromuscular reference centers along the country, and performed a comprehensive molecular investigation that included Multiplex Ligation-dependent Probe Amplification and Next generation sequencing (NGS) analyses. We evaluated 199 patients from 177 unrelated families: 166 with DMD, 32 with BMD and 1 1.5 years old asymptomatic patient with persistent hiperCKemia. Overall, large deletions (58.2%) followed by nonsense mutations (12.4%) and large duplications (11.3%) were the most frequent variants in Brazilian families. Large deletions were less frequent in BMD than in DMD (44.8% vs 60.8%). We identified 19 new DMD variants. Nonsense mutations were significantly more frequent in patients from northeastern region than from southern/southeastern regions of Brazil (27.7% vs 8.5%, P < .05). Genetic profile of Brazilian patients with DMD/BMD is similar to previously reported cohorts, but it is not uniform across the country. This information is important to plan rational clinical care for patients in face of the new coming mutation-specific therapies.

Diagnostic accuracy of anti-gliadin antibodies in Non Celiac Gluten Sensitivity (NCGS) patients: A dual statistical approach.

BACKGROUND: Gluten is the target of several diseases such as wheat allergy (WA), celiac disease (CD) and non-celiac gluten sensitivity (NCGS). NCGS is a new clinical entity characterized by gastrointestinal and extraintestinal symptoms comparable to those of CD patients but to date still lacking of specific biomarkers so that NCGS diagnosis can be reached only by excluding CD and WA, and based on the direct association between gluten ingestion and symptoms onset. Previous studies showed that antigliadin antibodies (AGA) IgG are the most prevalent positive antibodies in NCGS population. AIM: The first aim of the study was to estimate AGA distribution and prevalence in a NCGS population. The second aim was to identify a serological pattern to help the diagnosis and/or to mark the NCGS disease. METHODS: Sera from 59 patients with suspected NCGS, 90 CD patients and 70 healthy individuals were assessed for AGA IgG/IgA, IgG/IgA deamidated gliadin peptide antibodies (DGP-AGA), tissue transglutaminase antibodies IgA (tTGA), endomysial antibodies IgA (EmA) and HLA typing (Eurospital, Trieste, Italy). RESULTS: We evaluated data by a dual statistical approach: logistic regression and receiver operating characteristic (ROC) analysis; therefore, we showed a poor diagnostic accuracy of AGA IgG in NCGS condition. CONCLUSION: Our preliminary data showed that AGA IgG didn't seem to be a strongly sensitive marker, even if it has been recently proposed as promising marker for NCGS condition, together with negativity for other celiac disease related antibodies. It can partially help the NCGS diagnosis, if it is integrated in the overall management of the patient. More in-depth clinical and laboratory researches are mandatory.

Clinical correlates of autonomic dysfunction in patients with Machado-Joseph disease.

BACKGROUND: Autonomic dysfunction is a usual feature of several neurological conditions characterized by either extra-pyramidal and/or peripheral damage, such as those seen in Machado-Joseph disease (MJD). AIMS OF THE STUDY: We used clinical evaluation and sympathetic skin responses (SSR) to assess autonomic function in a large series of patients with MJD. METHODS: A total of 50 patients were enrolled in this study and all of them had the molecular confirmation of MJD by DNA genotyping. In addition, a group of 20 control subjects was included. RESULTS: Overall, autonomic complaints were more frequent in patients than in control subjects, especially those related to the genitourinary and sudomotor systems. Eighteen patients (36%) presented abnormal SSR. Age at onset, duration of disease and length of expanded (CAG)(n) were not different between patients with and without dysautonomia. However, severe dysautonomia was significantly associated with polyneuropathic or parkinsonian phenotypes in patients with MJD. CONCLUSION: Autonomic symptoms are common, but possibly under recognized in patients with MJD; therefore, we believe that autonomic complaints should be sought in patients with MJD, especially in those with parkinsonian or polyneuropathic phenotypes.

Sleep symptoms and their clinical correlates in Machado-Joseph disease.

OBJECTIVE: To evaluate the presence of sleep symptoms in Machado-Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3). SUBJECTS/METHODS: We used a sleep questionnaire and the Epworth Sleepiness Scale to compare 53 patients with MJD/SCA3 and 106 controls. RESULTS: Patients with MJD/SCA3 reported more symptoms of insomnia, restless leg syndrome and REM sleep behavior disorder as well as nocturnal cramps, snoring and nocturnal apnea. Insomnia was the most frequently reported sleep-related complaint in the MJD/SCA3 group. CONCLUSIONS: Our results indicate that sleep disorders are common in patients with MJD/SCA3 and probably have a multifactorial etiology, with components of a primary sleep disorder in addition to sleep-disrupting symptoms such as nocturia and cramps.

Chronic acquired sensory neuron diseases.

BACKGROUND AND PURPOSE: Sensory neuron diseases (SND) represent a specific subgroup of peripheral nervous system disorders that are becoming increasingly recognized. We aimed to analyze clinical, neurophysiological, and MRI features in patients with SND. METHODS: We reviewed clinical and electrophysiological data of 20 individuals fulfilling SND criteria. Patients underwent an additional neurological evaluation and cervical spine MRI. RESULTS: Sensory neuron diseases was associated with dysimmune conditions in six, hepatitis C in one, B12 deficiency in another, and in one patient SND was related to organophosphate intoxication. In the remaining eleven, it was considered as idiopathic. Nineteen patients experienced sensory symptoms. Worse ataxia was related with longer disease duration (P = 0.02). Early CSF assessment was related to higher protein level (P = 0.008). All patients showed widespread impairment in sensory nerve action potential amplitudes. High signal intensity in the posterior columns was observed in most patients when MRI was performed more than 3 years after disease onset. DISCUSSION: Sensory neuron diseases usually presents with sensory symptoms and ataxia. A high index of suspicion is important because inflammatory changes might be more prominent initially, a period when immunotherapy could be more valuable. Early diagnosis should be based mainly on electrophysiological and clinical grounds, as MRI may be normal initially.

Medida da função motora: versão da escala para o português e estudo de confiabilidade / Motor function measure scale: portuguese version and reliability analysis

CONTEXTUALIZAÇÃO: Instrumentos de avaliação funcional de pacientes com doenças neuromusculares são escassos. A escala Medida da Função Motora (MFM) está disponível no original francês e nas versões inglesa e espanhola. OBJETIVOS: Realizar a versão da escala para o português e identificar a confiabilidade de sua aplicação intra e interexaminador. MATERIAIS E MÉTODOS: Duas traduções da MFM de 2004 foram realizadas em separado, por neurologistas proficientes na língua francesa, resultando em texto consensual, após avaliação dos autores. A escala em português foi aplicada em 58 pacientes de seis a 61 anos, com diagnósticos clínico-laboratoriais de variados tipos de distrofias musculares e miopatias congênitas, documentados em vídeo. O primeiro autor realizou o teste e reteste e outros três fisioterapeutas analisaram os mesmos vídeos para confiabilidade interexaminador. Para análises estatísticas foram utilizados os coeficientes de Kendall, Kappa e Pearson. RESULTADOS: Apresenta-se a escala em seus 32 itens e três dimensões. Os coeficientes de concordância de Kendall para a análise interexaminador e os coeficientes Kappa e de Pearson para o teste e reteste foram estatisticamente significativos (p-valor<0,0001) nos 32 itens da escala e no escore total. CONCLUSÕES: A versão portuguesa da MFM mostrou confiabilidade e mínima variabilidade na sua aplicação, podendo ser utilizada como instrumento de diagnóstico clínico e seguimento das doenças neuromusculares. A alta confiabilidade na aplicação da MFM permitirá incluir pacientes brasileiros em ensaios clínicos internacionais que utilizarão a escala.

BACKGROUND: Functional evaluation instruments for patients with neuromuscular disorders are rare. The Motor Function Measure (MFM) scale is available in the original French and in English and Spanish translations. OBJECTIVE: To make a Portuguese translation of the MFM and to identify its intra and inter-examiner reliability. METHODS: Two translations of the 2004 MFM were produced separately by neurologists who were proficient in French. This procedure resulted in a consensual text after evaluation by the authors. The MFM in Portuguese was applied to 58 patients aged six to 61 years, with clinical and laboratory diagnoses of various types of muscular dystrophy and congenital myopathy that were documented on video. The first author performed the test and retest and another three physical therapists analyzed the same videos to assess the inter-examiner reliability. Statistical analyses were performed using the Kendall, kappa and Pearson coefficients. RESULTS: The scale is presented with its 32 items and three dimensions. The Kendall concordance coefficients for inter-examiner analysis and the kappa and Pearson coefficients for the test-retest comparison were statistically significant (p-value<0.0001) for the 32 items on the scale and for the total score. CONCLUSIONS: The Portuguese version of the MFM showed high reliability and minimal variability when it was applied. It can be used as an instrument for clinical diagnosis and follow-up of neuromuscular disorders. The high reliability in applying the MFM will allow Brazilian patients to be included in international clinical trials that use this scale.

Guillain-Barré syndrome in the elderly: clinical, electrophysiological, therapeutic and outcome features

There are few papers devoted to geriatric Guillain-Barré (GBS) and many related issues remain unanswered. OBJECTIVE: To describe clinical, electrophysiological and therapeutic features in this age. METHOD: Clinico-epidemiological data and therapy of GBS patients older than 60 years were reviewed. Hughes scores were used to quantify neurological deficit and define outcome. RESULTS: Among 18 patients (mean age 64.8 years), 9 had evident prodrome and 80% noticed initially sensory-motor deficit. Demyelinating GBS was found in 8 and axonal in 6 subjects. There was one Miller-Fisher and 3 unclassified cases. Plasmapheresis (PFX) was single therapy in 12 patients and intravenous immunoglobulin (IVIg) in 2. Disability scores just before therapy were similar in both groups, so as short and long term outcome. CONCLUSION: Axonal GBS seems to be more frequent in the elderly and this may have prognostic implications. PFX and IVIg were suitable options, but complications were noticed with PFX. Prospective studies are needed to better understand and manage GBS in the elderly.

Publicações sobre a síndrome de Guillain-Barré (SGB) no idoso são escassas e várias questões sobre o tema estão abertas. OBJETIVO: Descrever aspectos clínico-eletrofisiológicos, terapêuticos e prognóstico no idoso. MÉTODO:Revisamos os prontuários de pacientes acima de 60 anos com SGB. A escala de Hughes foi usada para quantificar os déficits iniciais e finais. RESULTADOS: No total de 18 pacientes (média de idade 64,8 anos), 50% tiveram pródromo e 80% tiveram déficit sensitivo-motor no início. SGB desmielinizante foi encontrada em 8 pacientes, axonal em 6 e uma síndrome de Miller-Fisher. Três casos não puderam ser classificados. Plasmaférese (PFX) foi empregada isoladamente em 12 pacientes e imunoglobulina endovenosa (IVIg) em 2. A disfunção inicial nos dois grupos tratados era semelhante, assim como a evolução a curto e longo prazo. CONCLUSÃO: A forma axonal da SGB parece ser mais freqüente no idoso e isto pode ter implicações prognósticas. PFX e IVIg foram eficazes, mas complicações ocorreram apenas no grupo tratado com PFX. Estudos prospectivos são necessários para um melhor entendimento e manejo da SGB no idoso.

Review of the implications of dietary tryptophan intake in patients with irritable bowel syndrome and psychiatric disorders.

In this review, we address the possible role of the essential amino acid L-tryptophan or its metabolic derivative 5-hydroxytryptophan in the modulation of serotonin (5-hydroxytryptamine) synthesis and thereby in affecting the pathophysiology of central and peripheral nervous system disorders, including depression and irritable bowel syndrome. L-Tryptophan may represent a link between apparently disparate functional disorders and is of interest for general gastroenterologists, neurogastroenterologists, and neurologists. On the basis of estimates showing that approximately 20% of patients with functional bowel disorders seeking care in referral centres have psychiatric comorbidity, we attempt to provide a conceptual framework for defining the possible role of L-tryptophan in this population.

5-HT4 receptors contribute to the motor stimulating effect of levosulpiride in the guinea-pig gastrointestinal tract.

BACKGROUND: The dopamine D2 receptor antagonist levosulpiride is a substituted benzamide derivative, whose gastrokinetic properties are exploited clinically for the management of functional dyspepsia. However, for other benzamide derivatives, such as cisapride and mosapride, agonism towards serotonin 5-HT4 receptors is considered the main mechanism leading to gastrointestinal prokinesia. AIMS: To assess whether levosulpiride is able to activate 5-HT4 receptors in the guinea-pig isolated gastrointestinal tract. MATERIALS AND METHODS: Circular muscle strips from gastric antrum, and colonic longitudinal muscle strips were used to detect electrically stimulated neurogenic contractions. The effect of levosulpiride was assessed in the absence and presence of GR125487, a selective 5-HT4 receptor antagonist. Furthermore, potential interaction of levosulpiride with 5-HT3 receptors and tissue cholinesterases was assessed in unstimulated ileal longitudinal muscle-myenteric plexus preparations. RESULTS: Antral and colonic strip contractions were cholinergic/tachykinergic in nature. Micromolar concentrations of levosulpiride potentiated submaximal responses, through a mechanism competitively antagonized by GR125487 (pKB=9.4). In LMMPs, levosulpiride slightly affected contractions caused by the 5-HT, receptor agonist 2-methyl-5-HT, and had no effect on contractions to exogenous acetylcholine. CONCLUSIONS: Our results indicate that levosulpiride acts as a moderate agonist at the 5-HT4 receptor. This property, together with antagonism at D2 receptors, may contribute to its gastrointestinal prokinetic effect.

Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion.

In myotonic dystrophy (MD), disease severity has been correlated with expansion of CTG repeats in chromosome 19. The aims of this study were to evaluate efficacy of electromyography in the diagnosis of MD, access the frequency and the characteristics of peripheral involvement in the disease and to verify whether the CTG repeats correlated with the electrophysiological abnormalities. Twenty-five patients and six relatives at risk of carrying the MD gene were examined. Electrical myotonia (EM) was scored. Sensory and motor conduction velocity (CV) were studied in five nerves. Leukocyte DNA analysis was done in 26 subjects. Myopathy and myotonia were found in 27 cases. EM was most frequent in muscles of hand and in tibialis anterior. No significant correlation was found between EM scores and length of CTG expansions. EM scores correlated significantly with the degree of clinical myopathy, expressed by a muscular disability scale. Peripheral neuropathy was found in eight subjects and was not restricted to those who were diabetics.

Dorsal cutaneous branch of ulnar nerve: an appraisal on the anatomy, injuries and application of conduction velocity studies in diagnosis.

Classical textbooks and recent publications about the anatomy of the dorsal cutaneous branch of the ulnar nerve are revisited and correlated with methods of measurement of its conduction velocity, in order to evaluate the indications and limitations of the procedure. Etiology and pathogenesis of isolated lesions of this nerve branch are discussed.

Fibrodysplasia ossificans progressiva: case report.

Fibrodysplasia ossificans progressiva is a rare genetic disease characterized by widespread soft tissue ossification and congenital stigmata of the extremities. We report on a male child followed for ten years since the age of 3 years and 9 months, when the diagnosis was made. He was born with bilateral hypoplasic hallux valgus and ventricular septal defect, corrected by trans-sternal approach when 32 months old. Restriction of neck mobility followed and foci of ectopic ossification appeared. Four crises of disease exacerbation were treated with oral prednisone and/or other antiinflammatory drugs. Sodium etidronate 5 to 10 mg/kg/day was prescribed intermittently during about six years but was discontinued due to osteopenia. The disease course has been relentless, with severe movement restriction including the chest wall. A review showed few similar case reports in the Brazilian literature. We revisit the criteria for diagnosis and the essentials of management and treatment.

Review article: cardiac adverse effects of gastrointestinal prokinetics.

Gastrointestinal prokinetics, such as metoclopramide, cisapride and levosulpiride, are widely used for the management of functional gut disorders. Recently, several studies have shown that cisapride (a partial 5-HT4 receptor agonist) can induce dose-dependent cardiac adverse effects, including lengthening of the electrocardiographic QT interval, syncopal episodes and ventricular dysrhythmias. Until recently, it was not clear whether these effects were dependent on 5-HT4 receptor activation or related to peculiar characteristics in the molecular structure of single agents within the benzamide class. Experimental evidence now favours the second hypothesis: cisapride possesses Class III antiarrhythmic properties and prolongs the action potential duration through blockade of distinct voltage-dependent K+ channels, thus delaying cardiac repolarization and prolonging the QT interval. Patients at risk of cardiac adverse effects are children, subjects with idiopathic, congenital or acquired long QT syndrome and, in particular, those receiving concomitant medication with Class III antiarrhythmic agents, some H1-receptor antagonists (e.g. terfenadine), or drugs such as azole antifungals (e.g. ketoconazole, itraconazole, miconazole and fluconazole) and macrolide antibacterials (e.g. erythromycin, clarithrod-mycin and troleandomycin), which can inhibit cisapride metabolism by interfering with the CYP3A4 isoenzyme.

Pseudocystic form of neurocryptococcosis in pregnancy. Case report.

We report a case of neurocryptococcosis which is unique in the literature because the patient had a pseudocystic form of the disease during pregnancy and without any evidence of AIDS. The clinical picture was that of intracranial hypertension and the epidemiological background was highly suggestive of cysticercosis. CT showed multiple round hypodense lesions in the basal ganglia and cerebellum, without contrast enhancement. Since a scolex was not visible, the diagnosis of neurocysticercosis was considered probable. CSF examination was not performed in view of its high risk. The patient had progressive downhill course. Autopsy disclosed multiple gelatinous pseudocysts in the cerebral and cerebellar gray matter, containing abundant Cryptococcus neoformans. Meningeal involvement was minimal. The child was delivered by caesarean section and was free of infection, but died later of hyaline membrane disease. The neuroimaging appearances of this rare instance of the pseudocystic form of neurocryptococcosis mimicked closely neurocysticercosis and only postmortem examination allowed correct diagnosis. The pseudocystic form has so far only been reported in AIDS.