[The use of a urethral catheter with an ultrasound-induced biopolymer drug coating for the prevention of recurrent bladder neck sclerosis in patients after endoscopic treatment of benign prostate hyperplasia].

Recurrent bladder neck sclerosis is one of the common complications of endoscopic treatment of benign prostate hyperplasia, which often leads to multiple re-operations, including complex open and laparoscopic reconstructive procedures. One of the most promising minimally invasive methods for preventing recurrence of bladder neck sclerosis is balloon dilatation under transrectal ultrasound guidance. To improve the results of using this technique, a urethral catheter with a biopolymer coating, capable of depositing a drug and eluting it under the influence of diagnostic ultrasound, was proposed.

Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.

BACKGROUND: A 7-month-old male infant was admitted because he was suffering from nephrotic syndrome, along with encephalomyopathy, hypertrophic cardiomyopathy, clinically suspected deafness and retinitis pigmentosa, and an elevated serum lactate level. METHODS: Coenzyme Q10 supplementation was started because of the clinical suspicion of primary CoQ10 deficiency. Despite intensive efforts, he passed away 4 weeks after admission. RESULTS: The results of genetic tests, available postmortem, explored two hitherto undescribed mutations in the PDSS2 gene. Both were located within the polyprenyl synthetase domain. Clinical exome sequencing revealed a heterozygous missense mutation in exon 3, and our in-house joint-analysis algorithm detected a heterozygous large 2923-bp deletion that affected the 5 prime end of exon 8. Other causative defects in the CoQ10 and infantile nephrosis-related genes examined were not found. A postmortem histological, immunohistochemical, and electron microscopic evaluation of the glomeruli revealed collapsing-sclerosing lesions consistent with diffuse mesangial sclerosis. The extrarenal alterations included hypertrophic cardiomyopathy and diffuse alveolar damage. A histological evaluation of the central nervous system and skeletal muscles did not demonstrate any obvious abnormality. CONCLUSIONS: Until now, the clinical features and the mutational status of 6 patients with a PDSS2 gene defect have been reported in the English literature. Here, we describe for the first time detailed kidney morphology features in a patient with nephrotic syndrome carrying mutations in the PDSS2 gene.

Graves' disease in a 3 year-old patient with agranulocytosis due to anti-thyroid drugs: Radioiodine ablation therapy as an effective alternative. / Enfermedad de Graves en un paciente de 3 años con agranulocitosis asociada a fármacos antitiroideos: terapia ablativa con radioyodo como una alternativa eficaz.

The case is presented of a 3 year-old girl with mitochondrial disease (subacute necrotizing encephalomyelopathy of Leigh syndrome), v-stage chronic kidney disease of a diffuse mesangial sclerosis, as well as developmental disorders, and diagnosed with hyperthyroidism Graves-Basedow disease. Six weeks after starting the treatment with neo-carbimazole, the patient reported a serious case of agranulocytosis. This led to stopping the anti-thyroid drugs, and was treated successfully with 131I ablation therapy. The relevance of the article is that Graves' disease is uncommon in the paediatric age range (especially in children younger than 6 years old), and developing complications due to a possible late diagnosis. Agranulocytosis as a potentially serious adverse effect following the use of anti-thyroid drugs, and the few reported cases of ablation therapy with 131I at this age, makes this case unique.

[Efficacy Observation of Chinese Herbal Fumigation Combined Western Drugs for Treating Sys- temic Sclerosis Complicated Pulmonary Arterial Hypertension].

Objective To observe the therapeutic efficacy and safety of Chinese herbal fumigation combined with leflunomide (LEF) and prednisone (Pred) in treatment of systemic sclerosis (SSc) complicated pulmonary arterial hypertension (PAH). Methods Totally 99 SSc patients complicated early PAH were randomly assigned to the Western drugs group (WD, 49 cases) and the integrative medicine group (IM, 50 cases). Patients in the WD group took LEF (20 mg) and Pred (15 mg) , once per day. In addition to routine WD program, those in the IM group additionally received Chinese herbal fumigation. All treatment lasted for 6 months. Raynaud's phenomenon (RP) was observed in each group before and after treatment. RP score, erythrocyte sedimentation rate (ESR), C reactive protein (CRP), pulmonary arterial systolic pressure (PASP) , and pulmonary function were compared between the two groups before and after treatment. The clinical efficacy and adverse reactions were evaluated. Results Thirteen cases were lost due to various reasons. A total of 86 patients completed this study, 41 in the WD group and 45 in the IM group. Compared with the same group before treatment, RP score, levels of ESR and CRP all decreased in the two groups after treatment (P <0. 05). Compared with the WM group after treatment, RP score, levels of ESR and CRP were obviously lowered in the IM group after treatment (P < 0. 05). Besides, lowered differences between post-pre-values of ESR, CRP, and PASP were more obviously higher, while elevated differences between post-pre-values of total lung capacity (TLC) and carbon monoxide diffusing capacity (DLCO) were more obviously higher in the IM group (P <0. 05). The total effective rate was 93. 33% (42/45) in the IM group, obviously higher than that in the WD group [70. 73% (29/41) , P <0. 05 ]. There was no statistical difference in total adverse reaction rate between the two groups (x² =0. 019, P =0. 891). Conclusion Chinese herbal fumigation combined with WD had obvious efficacy with less adverse reactions, so it was worth clinical spread.

Efecto del tratamiento farmacológico en el estado nutricional del paciente neurológico / Effect of pharmacologic treatment of the nutritional status of neurologic patients

Las manifestaciones clínicas que acompañan a las enfermedades neurológicas son muy variadas, afectando a múltiples órganos. Los pacientes con ciertas patologías neurológicas como son el ictus, la enfermedad de Alzheimer, Parkinson, Epilepsia y Esclerosis Múltiple pueden ver su estado nutricional alterado a causa de determinados síntomas relacionados con el curso de la enfermedad, como el déficit de determinados micronutrientes (ácido fólico, zinc, vitaminas B6 y B12, vitamina D, vitaminas E y vitamina C), alteraciones del gasto energético, disminución de la ingesta, alteraciones gastrointestinales y disfunción de la masa ósea. A estas circunstancias, hay que añadir el efecto de otros factores: edad avanzada, múltiples comorbilidades, polifarmacia, la utilización de fitoterapia, hábitos sociales, la dieta y el efecto de los tratamientos farmacológicos (AU)

Clinical manifestations accompanying neurological diseases are diverse and affect multiple organs. Nutritional status of patients with certain neurological diseases such as stroke, Alzheimer’s disease, Parkinson’s disease, Epilepsy and Multiple Sclerosis can be altered because of symptoms associated with disease course, including certain micronutrient deficiency (folic acid, zinc, vitamin B6 and B12, vitamin D, vitamin E and vitamin C), changes in energy expenditure, intake decreased, gastrointestinal disorders and dysfunction of the bone mass. Also, we have to take in account other factors as: advanced age, multiple co morbidities, polypharmacy, the use of herbal products, social habits, diet and pharmacological treatments effect. An assessment of the factors related to neurological treatment that cause alterations in metabolic and nutritional status was performed: side effects of anti-Parkinson drugs, antiepileptic drugs, and multiple sclerosis drugs; drugnutrient interactions; and nutrient-drug interactions (AU)

Vagal stimulation by manual carotid sinus massage to acutely suppress seizures.

Carotid sinus massage, a technique involving digital pressure on the richly innervated carotid sinus, is a time-honoured method for termination of supraventricular tachycardia due to paroxysmal atrial tachycardia. Vagal nerve stimulation, a more recent technique, employs pacemaker stimulation of the vagus as a treatment for refractory epilepsy. This case report discusses the use of carotid sinus massage to abort seizure activity. The patient used manual manipulation of the carotid sinus (similar to cardiology techniques) to suppress seizures, achieving a therapeutic neurological outcome.

Temporal resolution deficits in patients with refractory complex partial seizures and mesial temporal sclerosis (MTS).

We studied the temporal resolution ability in patients with refractory complex partial seizures and mesial temporal sclerosis (MTS) using Gaps-In-Noise (GIN) test in a prospective cross-sectional study. Thirteen patients with right MTS (age: 31±7.67 years; M:F=8:5) and 13 patients with left MTS (age: 25.76±8.26 years; M:F=9:4) having normal hearing and mini-mental state examination (MMSE) score of >23/30 were recruited. Fifty healthy volunteers (26.3±5.17 years; M:F=28:22) formed the control group. Gaps-In-Noise test demonstrated impaired temporal resolution: 69.2% of patients with right MTS (RMTS) and 76.9% of patients with left MTS (LMTS) had abnormal scores in the right ear for gap detection threshold (GDT) measure. Similarly, 53.8% of patients in the RMTS group and 76.9% of patients in the LMTS group had abnormal scores in the left ear. In percentage of correct identification (PCI), 46.1% of patients with RMTS and 69.2% of patients with LMTS had poorer scores in the right ear, whereas 46.1% of patients with RMTS and 61.5% of patients with LMTS had poorer scores in the left ear. Both patient groups, viz., RMTS and LMTS, demonstrated bilateral temporal resolution deficits.

Osteopatía estriada con esclerosis craneal / Osteopathia striata with cranial sclerosis

La osteopatía estriada con esclerosis craneal es una rara enfermedad con menos de 100 casos descritos en la literatura médica. Presenta unos hallazgos radiológicos característicos que una vez identificados llevan al diagnóstico. Las estriaciones escleróticas longitudinales en huesos largos y la osteoesclerosis de los huesos faciales y del cráneo deben hacer pensar en esta entidad. No se trata de una enfermedad grave, aunque frecuentemente se asocia a otro tipo de trastornos y malformaciones extraesqueléticas que con frecuencia condicionan el pronóstico. La afectación de los huesos craneales y faciales puede producir deformación facial y discapacidad funcional marcada al afectar a los nervios craneales. Se presenta un caso de esta enfermedad descubierto de forma casual en una paciente joven estudiada en una consulta de medicina por manifestaciones clínicas en principio ajenas a esta dolencia (AU)

Osteopathia striata with cranial sclerosis is a rare disease: fewer than 100 cases have been reported. The radiologic findings of osteopathia striata are characteristic, and once they are identified, they lead to the correct diagnosis. Longitudinal sclerotic striation in long bones and osteosclerosis in facial bones should raise suspicion of osteopathia striata with cranial sclerosis. This is not a serious disease, although it is often associated with other kinds of disorders and extraskeletal malformations that can affect the prognosis. Involvement of cranial and facial bones can lead to facial deformity and marked functional incapacity when the cranial nerves are affected. We present a case of osteopathia striata with cranial sclerosis discovered incidentally in a young woman studied for clinical manifestations unrelated to this disease (AU)

Involvement of the thalamocortical network in TLE with and without mesiotemporal sclerosis.

PURPOSE: The thalamus plays an important role in seizure propagation in temporal lobe epilepsy (TLE). This study investigated how structural abnormalities in the focus, ipsilateral thalamus and extrafocal cortical structures relate to each other in TLE with mesiotemporal sclerosis (TLE-MTS) and without hippocampal sclerosis (TLE-no). METHODS: T1 and high-resolution T2 images were acquired on a 4T magnet in 29 controls, 15 TLE-MTS cases, and 14 TLE-no. Thalamus volumes were obtained by warping a labeled atlas onto each subject's brain. Deformation-based morphometry was used to identify regions of thalamic volume loss and FreeSurfer for cortical thickness measurements. CA1 volumes were obtained from high-resolution T2 images. Multiple regression analysis and correlation analyses for voxel- and vertex-based analyses were performed in SPM2 and FreeSurfer. RESULTS: TLE-MTS had bilateral volume loss in the anterior thalamus, which was correlated with CA1 volume and cortical thinning in the mesiotemporal lobe. TLE-no had less severe volume loss in the dorsal lateral nucleus, which was correlated with thinning in the mesiotemporal region but not with extratemporal thinning. DISCUSSION: The findings suggest that seizure propagation from the presumed epileptogenic focus or regions close to it into the thalamus occurs in TLE-MTS and TLE-no and results in circumscribed neuronal loss in the thalamus. However, seizure spread beyond the thalamus seems not to be responsible for the extensive extratemporal cortical abnormalities in TLE.

Thalamic diffusion and volumetry in temporal lobe epilepsy with and without mesial temporal sclerosis.

PURPOSE: As an important connection within the limbic system, considerable attention has been paid to thalamic pathology in temporal lobe epilepsy (TLE). Magnetic resonance imaging (MRI) volumetric studies have yielded variable results and have largely been focused on TLE with mesial temporal sclerosis (TLE+). Diffusion tensor imaging (DTI) provides unique information on microstructure based on the measurement of water diffusion. To date, DTI properties of thalamus have not been well characterized in adult TLE patients with unilateral MTS or without MTS (TLE-). The purpose of this study was to investigate the status of thalamic integrity by using DTI as well as volumetric MRI in adult TLE+ and TLE- patients. METHOD: In 17 unilateral TLE+ patients, 10 TLE- patients and 26 controls, the thalamus was segmented by using an automated atlas-based method. Mean diffusivity (MD), fractional anisotropy (FA) and volume were then quantified from DTI and 3D T1-weighted scans. RESULTS: No significant changes were found in either DTI parameters or volume of thalamus in TLE- patients, as compared to healthy controls. However, both DTI parameters and MRI volumetry showed bilateral thalamic pathology in TLE+ patients, as compared to healthy controls. Also, TLE+ patients showed significant reduction of thalamic volume as compared to TLE- patients. In addition, thalamic FA ipsilateral to seizure focus showed significant correlation with age at onset of epilepsy in TLE+ patients. CONCLUSION: Our finding demonstrates bilateral pathology of thalamus in unilateral TLE+ patients. The discrepancy in thalamic pathology between TLE+ and TLE- patients suggests that along with differences in mesial temporal pathology, TLE+ and TLE- have unique extratemporal structural abnormalities.

Magnetic resonance spectroscopy of the thalamus in patients with mesial temporal lobe epilepsy and hippocampal sclerosis.

PURPOSE: to investigate potential neuronal dysfunction within the thalamus in patients suffering from mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE/HS). METHODS: we examined twenty epileptic patients suffering from mesial temporal lobe epilepsy with hippocampal sclerosis (17 females, 3 males) and twenty sex- and age-matched healthy controls. H MR spectroscopic imaging (SI) was performed over the right and left thalamus in all patients and controls. In addition both hippocampi were investigated by the H MR spectroscopic single voxel (SV) technique in both groups. RESULTS: statistical analysis of compared data in both groups demonstrated that the total thalamic NAA level was significantly decreased in patients with MTLE/HS as compared to healthy controls. Detailed analysis revealed a statistically significant reduction of NAA, NAA/Cr and NAA/(Cr+Cho) ratios in the thalamus ipsilateral to hippocampus affected with hippocampal sclerosis in patients compared to controls, while no significant changes were observed in the thalamus contralateral to sclerotic hippocampus. A comparison of values in ipsilateral and contralateral thalami in patients showed statistically significant difference with lower values of NAA and both ratios in the ipsilateral thalamus. Previously reported reduced hippocampal concentration of NAA, NAA/Cr and NAA/(Cr+Cho) ratios on the side of hippocampal sclerosis compared with contralateral hippocampus in patients and both hippocampi in controls was confirmed. CONCLUSIONS: the present MRS data clearly indicate neuronal dysfunction within the thalamus ipsilateral to the sclerotic hippocampus of patients with mesial temporal lobe epilepsy. In agreement with other recent functional and structural neuroimagings our results confirm the role of the ipsilateral thalamus in the medial temporal/limbic epileptic network.