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Primary microcephaly and Seckel syndrome are rare genetically and clinically heterogenous brain development disorders. Several exonic/splicing mutations are reported for these disorders to date, but â¼40% of all cases remain unexplained. We aimed to uncover the genetic correlate(s) in a family of multiple siblings with microcephaly. A novel homozygous intronic variant (NC_000013.10:g.25459823T>C) in CENPJ (13q12) segregating with all four affected male siblings was identified by exome sequencing and validated by targeted linkage approach (logarithm of the odds score 1.8 at θ 0.0). RT-PCR of CENPJ in affected siblings using their EBV derived cell lines showed aberrant transcripts suggestive of exon skipping confirmed by Sanger sequencing. Significantly reduced wild type transcript/protein in the affected siblings having the splice variant indicates a leaky gene expression of pathological relevance. Based on known CENPJ function, assessing for mitotic alterations revealed defect in centrosome duplication causing mono/multicentrosome(s) at prophase, delayed metaphase, and unequal chromosomal segregation in patient cells. Clinical features witnessed in this study expand the spectrum of CENPJ-associated primary microcephaly and Seckel syndrome. Furthermore, besides the importance of regulatory variants in classical monogenic disorders these findings provide new insights into splice site biology with possible implications for ASO-based therapies.
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Enanismo , Microcefalia , Centrómero/patología , Enanismo/genética , Humanos , Masculino , Microcefalia/genética , Microcefalia/patología , Proteínas Asociadas a Microtúbulos/genética , Mutación , Linaje , Sitios de Empalme de ARN , Empalme del ARNRESUMEN
BACKGROUND AND OBJECTIVE: Stress urinary incontinence (SUI) is prevalent among females across various age groups, yet societal taboos and unawareness contribute to under-reporting and hinder effective management strategies. This study aimed to evaluate the efficacy of dynamic neuromuscular stabilization (DNS) compared to traditional Kegel exercises in females with stress urinary incontinence, focusing on assessing the impact of DNS on pelvic floor strength and core musculature activation to provide valuable insights into urinary continence management. METHODOLOGY: This is a single-blinded, randomized trial with 90 females aged 18-40 years assessed perineometer readings, pelvic floor electromyography (EMG), and transverse abdominis activation via pressure biofeedback. RESULTS: Significant improvements in pelvic floor strength and core musculature activation were observed in the DNS group compared to the Kegel exercise group. Perineometer values, EMG measurements, and pressure biofeedback unit readings demonstrated substantial enhancements post-intervention in both groups. Effect sizes, including Cohen's D and point biserial correlation coefficient, indicated medium to large effects favoring the DNS intervention. CONCLUSION: DNS is superior to Kegel exercises for SUI management, emphasizing the importance of targeting core musculature. Future research should explore long-term outcomes and patient-reported measures for a comprehensive understanding.
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PROBLEM: Despite the pressing need to grow the Australian midwifery workforce, the rising cost of living is making midwifery education programs unaffordable for many. Understanding of the financial hardships faced by Australian midwifery students is currently limited. BACKGROUND: Attrition from midwifery programs is high and rising. In Australia, this is further compounded by the financial pressures brought about by the cost-of-living crisis. Attending compulsory unremunerated clinical placements and being 'on call' for continuity of care experiences contributes to the financial challenges of midwifery students. AIM: To identify and synthesise available literature addressing financial hardship faced by Australian midwifery students during their studies. METHODS: Arksey and O'Malley's framework guided this scoping review. Six databases were searched between January 2020 and April 2024. The key findings of eight included papers were thematically analysed. FINDINGS: Four themes were identified; "Attending placements and supporting COCE's as key contributors to financial hardship", "Impacts of financial hardship on midwifery students and their wider family", "Impacts upon the future growth and diversity of the profession" and "The need for universal financial support". DISCUSSION: The findings highlight the nature of financial challenges, causational factors and the consequences of financial hardship associated with completing midwifery programs in Australia. Appropriate universal financial support is urgently needed if we are to grow and sustain the midwifery workforce. CONCLUSION: With no primary studies specifically exploring financial hardship faced by Australian midwifery students, further research is required to understand the challenges they face and evaluate the efficacy of funding initiatives.
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Partería , Estudiantes de Enfermería , Humanos , Australia , Partería/educación , Partería/economía , Femenino , Estrés Financiero , Embarazo , Enfermeras Obstetrices/educaciónRESUMEN
PURPOSE: Several studies have evaluated electromyographic (EMG) activity of perioral muscles in patients using unsatisfactory old complete dentures and after the insertion of new clinically acceptable dentures; however, studies evaluating EMG activity of orbicularis oris (OO) and buccinator (BUC) muscles in patients wearing complete dentures fabricated using swallowing (SNZ) and phonetic neutral zone (PNZ) techniques are lacking in the literature. The purpose of this study was to evaluate differences in muscle activity of the superior orbicularis oris (SOO), inferior orbicularis oris (IOO) and BUC muscle during the use of unsatisfactory old complete dentures, in comparison with the satisfactory dentures fabricated using the two neutral zone techniques. MATERIALS AND METHODS: Ten completely edentulous participants dissatisfied with their existing mandibular complete dentures participated in the study. Each patient received two sets of new dentures fabricated using the SNZ and PNZ techniques. Surface EMG activity of the OO and BUC muscles was recorded using a 4-channel Medelec premier plus electromyography machine while the patients still used their old dentures (group A) and with the SNZ (group B) and PNZ (group C) dentures. On the basis of participation in the study, five participants first received the SNZ dentures and five the PNZ type. After having worn the prosthesis for a minimum of 2 months, EMG recordings were repeated for the first set of dentures. The prostheses were then changed and the procedures repeated. The activity of OO and BUC muscles was recorded at rest, while pursing and laughing, and during pronunciation of various syllables. Results are expressed as mean ± SD and as absolute numbers and percentage. ANOVA with appropriate correction (Bonferroni or Tamhane) and Student's t-test were used for statistical analysis. A p-value < 0.05 was taken to indicate a significant difference. RESULTS: There was no statistically significant difference in the mean EMG activity of SOO, IOO, and BUC muscles at rest, or during pursing or laughing among the three groups. No significant difference was observed in the mean EMG activity of SOO and BUC muscle among the groups for all the syllables pronounced. For IOO, a statistically significant difference was observed among the groups for the words "baby" and "cheese." Within-group comparisons of the mean EMG activities of SOO and IOO during pronunciation and pursing showed no significant difference; however, at rest a statistically significant difference was observed in group B. CONCLUSION: OO and BUC muscle activities did not significantly differ, irrespective of the technique used for fabrication of complete dentures.
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Mejilla/fisiología , Diseño de Dentadura , Dentadura Completa Inferior , Electromiografía/métodos , Músculos Faciales/fisiología , Boca/fisiología , Anciano , Anciano de 80 o más Años , Deglución/fisiología , Expresión Facial , Femenino , Estudios de Seguimiento , Humanos , Risa/fisiología , Labio/fisiología , Masculino , Persona de Mediana Edad , Contracción Muscular/fisiología , Fonética , Proyectos Piloto , Habla/fisiologíaRESUMEN
Background and objective Stress urinary incontinence (SUI) is a prevalent condition affecting women of various age groups, significantly impacting their quality of life. To address this multifaceted issue, a comprehensive approach that goes beyond traditional pelvic floor exercises is needed. Dynamic neuromuscular stabilization (DNS) exercises, targeting the integrated spinal stabilization system, offer a promising alternative. Thus, this study aimed to compare the effectiveness of DNS exercises and Kegel exercises in managing SUI among women. Methods This single-blinded, pilot study involved 24 women aged 18-40 years with mild to moderate SUI. Participants were divided into DNS and Kegel exercise groups. Outcome measures included perineometer readings, electromyography (EMG) data, and the Urogenital Distress Inventory-6 (UDI-6). Statistical analysis compared baseline and 12-week data within and between groups, and rank-biserial correlation coefficient (r) as a measure of effect size in our study was calculated. Results At 12 weeks, the DNS group showed significant improvement in pelvic floor muscle strength compared to Kegel exercises (p = 0.005). Both groups had significantly enhanced pelvic floor muscle strength (p < 0.05). A significant change occurred for EMG average, EMG peak, and EMG maximum voluntary contraction (MVC) at 12 weeks (average p = 0.005; peak p = 0.001; MVC p = 0.009), with significant improvements in both groups (p < 0.05). For UDI-6, a significant difference emerged between the two groups at 12 weeks (p < 0.05), with significant improvements in both groups individually from baseline to 12 weeks (p < 0.05). The effect size "r" for all variables indicated a medium to large effect size, underscoring the substantial and significant impact of DNS exercises in managing SUI among women compared to Kegel exercises. Conclusion This study suggests that DNS exercises, emphasizing the coordinated activation of the diaphragm, abdominals, multifidus, and pelvic floor, may provide a more effective approach for managing SUI in women compared to traditional Kegel exercises.
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BACKGROUND: Repetitive TMS (rTMS), a non-invasive neuro-stimulation tool based on the principle of electromagnetic induction is recently being employed both for investigational and interventional purposes. The stimulating effect of rTMS on motor cortex areas of the brain leads to increased motor activity and decreased muscle tone in spastic cerebral palsy (CP) patients. OBJECTIVE: This modulatory effect of rTMS is used in this study to evaluate its effect on motor function and spasticity by increasing the number of therapy session and keeping frequency of 10Hz and pulse train of 2500 constant. METHODS: Total thirty spastic CP patients participated in this study after written informed consent from their parents/guardians. The participants were equally divided into three groups, namely, S-20, S-30 and S-40 depending on the number of therapy sessions. The mean age±SD of participants in different groups were 8.9±3.6, 9.5±2.9 and 8.4±3.5 in S-20, S-30 and S-40 respectively. Participants in S-20, S-30 and S-40 were provided 20, 30 and 40 sessions of rTMS therapy respectively followed by physical therapy of 30 minutes daily. Each rTMS session was of 25 minutes duration and was administered once daily for 5 days a week. Prior to start and after completion of the therapy, pre and post assessment of gross motor function measure (GMFM) for motor function and modified Ashworth scale (MAS) for muscle spasticity was performed on all the participants. OUTCOMES: The result of pre-versus-post GMFM score showed that 4.27%, 3.12% and 2.36% motor gain was obtained after 40, 30 and 20 sessions of therapy respectively. In addition, significant reduction in spasticity in both upper and limb muscles was also observed in all the three groups.
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INTRODUCTION: Transcranial magnetic stimulation is a new tool that has been employed to modulate the neuronal activity of brain by its excitatory and inhibitory property. In cerebral palsy (CP) learning of any new task is an extremely slow process due to damage in sensory and motor areas of brain affecting the cognitive ability of the child and putting constraints in achieving timely developmental milestones. For such patients the electroencephalogram (EEG) is one of the most cost effective diagnostic tools used that minimizes hospital stay. Its analysis helps to identify various neurological disorders determining the role of brain waves outlining the present status of mind. MATERIALS AND METHODS: This study evaluated the EEG power spectrum density (PSD) of CP children both pre and post rTMS intervention to identify significance changes in signal patterns arising from different brain regions. thirty CP children participated in this study. Fifteen individuals underwent repetitive TMS (rTMS) therapy for 20 session comprising of 10 Hz frequency for 5 days a week for 4 weeks and another fifteen individual participated in activities of daily living for 20 sessions where they were administered mandatory standard therapy only. pre- EEG versus post EEG data recorded and analyzed employing the standard montage configuration. PSD was extracted employing fast fourier transform post acquisition of artifact free signal to undermine changes in signal pattern. DISCUSSION AND CONCLUSION: The results revealed that rTMS improves learning ability in CP children and it shows higher power peak at frequency of 50 Hz and lower power peak frequency at 100 Hz. The power intensity in gamma wave region shows significant reduction post-rTMS therapy between 38-24 power peak frequency and 7-4 range in 100 Hz power peak frequency. In future, it will be used as effective tool as memory enhancers, especially for children with neurological disorders.
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BACKGROUND: Neuromodulation is emerging as a new therapeutic field towards treatment of neurological disorders through advances in medical devices. Repetitive Transcranial Magnetic Stimulation (rTMS) is one such neuromodulatory device that has received increasing interest as a tool for modulating cortical excitability that influence motor activity in both normal and diseased population. However, the therapeutic effect of rTMS varies depending on stimulation frequency, intensity, pulse trains, duration, etc. Our previous studies had already demonstrated that higher frequency of 10 Hz was effective in improving the motor activity of spastic CP patients. OBJECTIVE: This study was aimed to evaluate the effect of different rTMS pulses on gross motor performance of spastic CP patients. METHOD: Thirty spastic CP patients were divided equally into three groups P1500, P2000 and P2500 with mean age (in years) 7.7 ± SD4.4, 6.8 ± SD5.3 and 7.2 ± SD5.1 respectively. Gross Motor Function Measure (GMFM) was employed as an outcome measure to assess the motor performance. Constant rTMS frequency of 10 Hz was delivered to each participant but the number of stimulation pulse varied according to the groups; which were 1500, 2000 and 2500 pulses for P1500, P2000 and P2500 group respectively. rTMS therapy of 15 minutes duration was followed by physical therapy of 30 minutes daily for 20 days. RESULT: Statistical analysis of pre versus post GMFM scores of different groups revealed significant result (p < .001) and the improvement in functional motor activity was 2.33% in P1500, 3.58% in P2000 and 5.17% in P2500 group. INTERPRETATION: The result demonstrated modulatory effect of rTMS pulse by improving motor function of spastic CP patients.
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Parálisis Cerebral/terapia , Espasticidad Muscular/terapia , Estimulación Magnética Transcraneal , Niño , Preescolar , Femenino , Humanos , Masculino , Destreza MotoraRESUMEN
BACKGROUND: Heteroresistant Mycobacterium tuberculosis (mixture of susceptible and resistant subpopulations) is thought to be a preliminary stage to full resistance and timely detection, initiation of correct treatment is vital for successful anti tubercular therapy. The aim of this study was to detect multi drug resistant (MDR) and heteroresistant M. tuberculosis with the associated gene mutations from patients of tuberculous meningitis. METHODS: A total of 197 M. tuberculosis isolates from 478 patients of TBM were isolated from July 2012 to July 2015 and subjected to drug susceptibility testing (DST) by BACTEC MGIT and Genotype MTBDR line probe assay (LPA). Heteroresistance was defined as presence of both WT and mutant genes in LPA. RESULTS: Of 197 M. tuberculosis isolates, 11 (5.6%) were MDR, 23 (11.6%), 1 (0.5%) were mono resistant to isoniazid (INH) and rifampicin (RMP) respectively. Heteroresistance was detected in 8 (4%), 2 (1%) isolates to INH and RMP respectively. INH heteroresistant strains had WT bands with mutation band S315T1 whereas RMP heteroresistant strains had WT bands with mutation band S531L. CONCLUSION: The prevalence of MDR M. tuberculosis was 5.6% in TBM patients with the most common mutation being ΔWT band with S315T1 for INH and ΔWT band with S531T for RMP. MGIT DST was found to be more sensitive for detecting overall resistance in M. tuberculosis but inclusion of LPA not only reduced time for early initiation of appropriate treatment but also enabled detection of heteroresistance in 8 (4%), 2 (1%) isolates for INH and RMP respectively.
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Isoniazida/uso terapéutico , Mycobacterium tuberculosis/aislamiento & purificación , Rifampin/uso terapéutico , Tuberculosis Meníngea/tratamiento farmacológico , Tuberculosis Resistente a Múltiples Medicamentos/tratamiento farmacológico , Antituberculosos/uso terapéutico , Femenino , Humanos , Incidencia , India/epidemiología , Masculino , Pruebas de Sensibilidad Microbiana , Estudios Prospectivos , Tuberculosis Meníngea/epidemiología , Tuberculosis Meníngea/microbiología , Tuberculosis Resistente a Múltiples Medicamentos/epidemiología , Tuberculosis Resistente a Múltiples Medicamentos/microbiologíaRESUMEN
BACKGROUND: As variability in the clinical profile of dementia subtypes had been reported with regional differences across the world, we conducted a retrospective hospital-based study in a North Indian population. METHODS: We retrieved patient records from 2007 to 2014 for details of clinical evaluation, diagnosis, neuroimaging, biochemical investigations, and follow-up of 1,876 patients with dementia (PwD), and the data were analyzed using descriptive statistics. RESULTS: Of the total PwD, Alzheimer disease (AD) accounted for 30% followed by vascular dementia (VaD) 26%, mixed dementia (MD) 21%, Parkinson-related dementia 11%, frontotemporal dementia (FTD) 7%, and infective dementia 5%. Of all PwD excluding the infective group (n = 1,777), 63% were men, 39% were from rural areas, 87% had behavioral abnormalities along with cognitive deficits, and 73% had impaired ADLs. Among dementia subtypes, a positive family history, cardiovascular and metabolic risk factors, and behavioral abnormalities were found to be distributed. However, there existed a predominance of specific behavioral pattern in each subtype. The mean duration of follow-up varied from 2.9 ± 2.3 (VaD) to 3.6 ± 2.1 (AD) and greater than 30% were found to be stable on treatment (except in dementia with Lewy body). CONCLUSIONS: This large hospital-based study provides a distribution pattern and clinical spectrum of dementia subtypes in a North Indian population.
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INTRODUCTION: This study aimed to investigate the factors which may predict mortality and neurological disability at one year follow up in patients of tuberculous meningitis (TBM) in India. METHODOLOGY: Patients with TBM were prospectively enrolled from July 2012 to September 2014 from four tertiary care hospitals of Delhi. The demographic characteristics, clinical features and laboratory findings were collected and patients were followed up till 1 year. These were analyzed by univariate and multivariate multinomial logistic regression analysis to identify predictors of adverse patient outcome at 1 year follow up. RESULTS: Out of 478 patients enrolled, 391 patients could be followed up to 1 year. Sixty-four patients (16.3%) died and 150 patients (39%) survived with one or more neurological disability. Altered sensorium, motor deficit, cranial nerve palsy, seizures, isolation of M. tuberculosis and presence of multi-drug resistance were independently associated with any adverse outcome (death or disability) but by multivariate analysis only motor deficit, altered sensorium and isolation of M. tuberculosis on culture produced a statistically significant model for prediction of patient outcome. CONCLUSION: The three-predictor model with motor deficit, altered sensorium and isolation of M. tuberculosis produced a statistically significant model with correct prediction rate of 60.4%. These three variables predicted death with odds ratio of 39.2, 6.7 and 2.1 respectively in comparison to recovery whereas only motor deficit and isolation of M. tuberculosis predicted neurological disability at 1 year with odds ratio of 3.9, 2.4 respectively.
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Enfermedades del Sistema Nervioso/microbiología , Tuberculosis Meníngea/complicaciones , Tuberculosis Meníngea/mortalidad , Adolescente , Adulto , Líquido Cefalorraquídeo/microbiología , Niño , Estudios de Seguimiento , Humanos , India/epidemiología , Persona de Mediana Edad , Trastornos Motores/microbiología , Mycobacterium tuberculosis/aislamiento & purificación , Trastornos de la Percepción/microbiología , Pronóstico , Factores de Riesgo , Trastornos de la Sensación/microbiología , Tasa de Supervivencia , Tuberculosis Meníngea/líquido cefalorraquídeo , Tuberculosis Meníngea/tratamiento farmacológico , Adulto JovenRESUMEN
Carotid dissection is an uncommon complication of trauma. They can present with immediate or delayed complications. We describe the case of a young patient with bilateral carotid dissections and acute infarcts. Brief review of literature and treatment options are discussed.
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Traumatismos en Atletas , Disección de la Arteria Carótida Interna/etiología , Adulto , Disección de la Arteria Carótida Interna/complicaciones , Disección de la Arteria Carótida Interna/diagnóstico por imagen , Lateralidad Funcional , Humanos , Imagen por Resonancia Magnética , Masculino , RadiografíaRESUMEN
Spastic cerebral palsy (CP) is the one of most common neurological disorders occurring due to damage to the immature brain or any other brain lesion at the time of birth. To aid in making the life of the CP patient meaningful, several interventions such as medical, surgical and rehabilitation have been employed to date. Besides these, recently repetitive Transcranial magnetic stimulation (r-TMS) is a new found approach which is being employed for treating various neurological and psychological conditions. The aim of this study was to observe the effects of r-TMS on muscle spasticity in CP patients by stimulating the motor cortex area of the brain, which is responsible for muscle movements. In this study, 20 subjects diagnosed with CP were recruited and 10 each were placed in two groups, namely the research group (RG) (mean age, height and weight were 7.99 (SD = 4.66) years, 116.7 (SD = 23.57) cm and 21.40 (SD = 10.95) kg, respectively) and the control group (CG) (mean age, height and weight were 8.41 (SD = 4.32) years, 107.9 (SD = 26.33) cm, 21.40 (SD = 12.63) kg, respectively). r-TMS frequencies of 5 Hz and 10 Hz were administered for 15 min daily to patients in RG followed by standard therapy (ST) of 1 h duration daily for 20 days. Moreover, the patients in the control group (CG) were given only standard therapy (ST) of 1 h duration for 20 days. Modified Ashworth Scale (MAS) was used as an outcome measure to determine the level of muscle spasticity. A pre- assessment of MAS score was performed on both RG and CG to determine the level of spasticity prior to starting therapy; and similarly post-assessment after 20 days was done to observe the changes post-therapy. Statistical analysis of pre vs post MAS scores showed that few muscles showed reduction in muscle tightness after administering only ST in the CG. On the contrary, the RG that underwent r-TMS therapy combined with ST showed a significant decrease (p < 0.05) in muscle tightness for all the muscles selected for the therapy.
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Parálisis Cerebral/terapia , Espasticidad Muscular/fisiopatología , Estimulación Magnética Transcraneal , Adulto , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND: Molecular methods which allow for rapid and reliable detection of drug resistance have yet not been sufficiently evaluated for timely management of patients with tuberculous meningitis. AIMS: We aimed to evaluate Geno Type MTBDRplus line probe assay for early detection of drug resistance in Mycobacterium tuberculosis isolates and CSF samples of confirmed tuberculous meningitis patients. SETTINGS AND DESIGN: This was a multicentric prospective study carried out from July 2011 to December 2013 in tertiary care hospitals of Delhi. MATERIALS AND METHODS: The assay was performed on 89 M. tuberculosis isolates and 31 direct CSF samples from microbiologically confirmed tuberculous meningitis patients. The sensitivity and specificity of this assay was calculated in comparison to drug susceptibility testing by BACTEC MGIT 960 system. RESULTS: The sensitivity, specificity for detection of resistance to Isoniazid was 93%, 97% and to Rifampicin was 80%, 98.8%, respectively by this assay in comparison with the phenotypic drug susceptibility testing. The line probe assay could detect M. tuberculosis in 55% of CSF samples from patients with microbiologically confirmed tuberculous meningitis. Only 5/89 isolates (5.6%) were resistant to both Isoniazid and Rifampicin while 9/89 (10%) isolates were additionally resistant to Isoniazid. Resistance to any of the drugs, namely Isoniazid, Rifampicin, Streptomycin or Ethambutol, was seen in 24.7% of strains. CONCLUSION: The line probe assay has a good sensitivity and specificity for detection of drug resistance to Isoniazid and Rifampicin in M. tuberculosis culture isolates. However, this assay has limited role in detection of M. tuberculosis and drug resistance from direct samples with confirmed diagnosis of tuberculous meningitis.
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In this study, the clinical profile of Hindi-speaking stroke patients with aphasia from northern India has been investigated. We examined the interactional effect between age and gender with aphasia type in 97 Hindi-speaking right-handed individuals, the majority of them with a confirmed diagnosis of a cerebrovascular accident. The subjects included in the study ranged from 3 weeks to two years post-onset with a diagnosis of a common classical aphasia (Broca's, Wernicke's, anomic, global, conduction, and transcortical) types involving both males and females. Also examined was the interaction between literacy and aphasia type since the subjects had varied exposures to education (total illiteracy to professional/university education). While the data reported here about Hindi-speaking aphasics are relatively in agreement with the age-aphasia type patterns discussed in western countries, nonetheless some differences were also observed. The mean age of Indian patients with aphasia was significantly lower. Also, in addition to some gender and literacy related differences, an outstanding difference was that many clinical symptoms that are known to co-occur with aphasia were not readily reported by subjects with stroke.
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Envejecimiento/fisiología , Afasia/diagnóstico , Afasia/etiología , Lenguaje , Accidente Cerebrovascular/complicaciones , Adulto , Factores de Edad , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , Factores SexualesRESUMEN
BACKGROUND: Dystonia is a neurological disorder usually of idiopathic etiology with a wide spectrum of clinical manifestations. The advent of botulinum toxin has revolutionized the treatment of focal dystonias. This study was a prospective long term study to see the efficacy of botulinum toxin in the treatment of dystonias. MATERIAL AND METHODS: There were a total of 215 injection sessions of botulinum toxin during a period of 4 years and 8 months. Patients were evaluated in detail and their severity of dystonias was graded on objective scales. Botulinum toxin injection were administered depending on the type and severity of dystonias. The response to treatment was gauged in terms of latency, and the degree and duration of improvement. The dosages were repeated as and when required, with minimal interval of 3 months. RESULTS: We had a total number of 215 injection sessions, with maximum patient sessions with blepharospasm and hemifacial spasm (59 and 61, respectively). The lowest dosages of botulinum toxin were required for writer's cramps and blepharospasm (92.5 +/- 5.3; and 122 +/- 5.1) while highest dosages were required for generalized and cervical dystonias (512 +/- 10.5; and 452.5 +/- 8.5). The best response in terms of different parameters assessed was seen with blepharospasm and hemifacial spasm while it was lowest for the generalized dystonia group. We did not observe any declining responsiveness to botulinum toxin with repeated injections. The side effects were minimal and self-limiting. CONCLUSION: Botulinum toxin injection is an effective and safe modality for the treatment of disabling dystonias. Cost is one of the major hinderances to its widespread use.
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Toxinas Botulínicas Tipo A/uso terapéutico , Trastornos Distónicos/tratamiento farmacológico , Fármacos Neuromusculares/uso terapéutico , Adulto , Trastornos Distónicos/clasificación , Femenino , Humanos , Inyecciones Intramusculares , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
AIM: To report paradoxical response, i.e. recurrence of appearance of fresh symptoms, physical and radiological signs in a patient who had previously shown improvement with appropriate anti-tubercular medicines. MATERIAL AND METHODS: Ten out of 58 patients of CNS tuberculosis, diagnosed on basis of clinical, laboratory and radiological data that initially showed clinical response to therapy only to deteriorate later were included in the study. RESULTS: Out of ten, three were males and seven were female with age range 13 to 28 years. The duration of time between initiation of therapy and worsening of patient was from one to seven months. Nine out of ten patients developed fresh intracranial tuberculoma while one case otherwise showing improvement developed expansion of tuberculoma and other one of empyema developed tuberculoma while on therapy. All these cases responded to addition of second line therapy or increase in dose of drugs previously prescribed and introduction or increased dose of steroid. CONCLUSIONS: Clinical judgement, regular follow up, guarded reassurance of patient is required to detect parodoxial response in CNS tuberculosis.
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Antituberculosos/uso terapéutico , Tuberculosis del Sistema Nervioso Central/tratamiento farmacológico , Adolescente , Adulto , Antituberculosos/administración & dosificación , Relación Dosis-Respuesta a Droga , Esquema de Medicación , Femenino , Humanos , Masculino , Recurrencia , Insuficiencia del Tratamiento , Tuberculosis del Sistema Nervioso Central/diagnósticoRESUMEN
OBJECTIVE: To see the prevalence of hallucinations in patients with Parkinson's disease and to compare the various parameters between hallucinators and non-hallucinators. METHODS: Forty-three patients of Parkinson's disease were included. Detailed motor assessment was done with UPDRS scales. Assessment was done for the presence of depression and sleep disturbances. The patients were enquired for the presence of depression and sleep disturbance. The patients were enquired for the presence of hallucinations. Hallucination types and associated emotional experience were probed into. Comparative analysis was subsequently done between hallucinators and non-hallucinators. RESULTS: The mean age of the patients was 61.47 years while mean duration of symptoms of PD was 4.30 years. The mean UPDRS II and III scores were 15.18 and 38, respectively. Fifteen patients (34.9%) had experienced hallucinations. The hallucinations described were visual as well as auditory in nature. Majority of these patients (12 out of 15, 80%) had not volunteered about their hallucinations on their own. On analysis of various parameters between the hallucinators and non-hallucinators, it was observed that hallucinators were older and had a higher mean duration of symptoms of PD. The patients with hallucinations had a higher severity of motor symptoms and signs. Hallucinators more commonly had depression and sleep disturbances. Mean dosage of L-dopa equivalent dose was higher in patients with hallucinations as compared to those without hallucinations. On statistical analysis, however, only two parameters were found to be different in a statistically significant manner. These were the duration of illness and the Hoen and Yahr scale (p < 0.05). Also, hallucinations occurred independent of dopaminergic drugs. CONCLUSION: Hallucinations are common source of distress but are often neglected. One should always probe actively into the presence of hallucinations.