A case presentation of paroxysmal hypnogenic dyskinesia: clinical features and management.

Paroxysmal Hypnogenic Dyskinesia (PHD) is a rare movement disorder characterized by involuntary movements, including chorea, athetosis, ballismus, and dystonia, which occur during the Non-Rapid Eye Movement (NREM) sleep stage. Therefore, the diagnosis of PHD is highly crucial due to the presence of differential diagnoses such as epilepsy and other sleep disorders. Although numerous mutations have been identified, the etiology of PHD, which arises from dysregulation in basal ganglia functions, remains unclear. We wanted to present a case of a nineteen-year-old girl diagnosed with PHD to draw attention to the diagnosis, etiology, and treatment of PHD. Supplementary Information: The online version contains supplementary material available at 10.1007/s41105-023-00499-5.

Electrodiagnostic methods to verify Guillain-Barré syndrome subtypes in Istanbul: A prospective multicenter study.

BACKGROUND AND AIMS: This study aimed to identify the clinical characteristics and electrodiagnostic subtypes of Guillain-Barré syndrome (GBS) in Istanbul. METHODS: Patients with GBS were prospectively recruited between April 2019 and March 2022 and two electrodiagnostic examinations were performed on each patient. The criteria of Ho et al., Hadden et al., Rajabally et al., and Uncini et al. were compared for the differentiation of demyelinating and axonal subtypes, and their relations with anti-ganglioside antibodies were analyzed. RESULTS: One hundred seventy-seven patients were included, 69 before the coronavirus disease 2019 pandemic (April 2019-February 2020) and 108 during the pandemic (March 2020-March 2022), without substantial changes in monthly frequencies. As compared with the criteria of Uncini et al., demyelinating GBS subtype diagnosis was more frequent according to the Ho et al. and Hadden et al. criteria (95/162, 58.6% vs. 110/174, 63.2% and 121/174, 69.5%, respectively), and less frequent according to Rajabally et al.'s criteria (76/174, 43.7%). Fourteen patients' diagnoses made using Rajabally et al.'s criteria were shifted to the other subtype with the second electrodiagnostic examination. Of the 106 analyzed patients, 22 had immunoglobulin G anti-ganglioside antibodies (14 with the axonal subtype). They had less frequent sensory symptoms (54.5% vs. 83.1%, p = 0.009), a more frequent history of previous gastroenteritis (54.5% vs. 22.9%, p = 0.007), and a more severe disease as compared with those without antibodies. INTERPRETATION: Serial electrodiagnostic examinations are more helpful for accurate subtype diagnosis of GBS because of the dynamic pathophysiology of the disease. We observed no significant increase in GBS frequency during the pandemic in this metropolis.

Modulation of the excitatory phase following the cutaneous silent period by vibration.

INTRODUCTION: The post-inhibition excitatory phase (E3) of the cutaneous silent period (CSP) is attributed to the resynchronization of motoneuron activity following the inhibitory period but there is also evidence that a somatosensory startle reflex may contribute to this phase. We hypothesized that the startle reflex component contained in E3 will decrease during vibration. METHODS: Sixteen healthy individuals were included in the study. CSP was recorded from slightly contracted right thenar muscles after painful index finger stimulation, before, during, and immediately after vibration. The values of the percentage change of E3 relative to pre-stimulus baseline (E3%) were compared before, during, and after vibration for each individual. RESULTS: There was a reduction in E3% during vibration and the values returned to normal immediately after vibration (153.1 ± 43.5%, 115.2 ± 30.2%, 154.9 ± 68.2%, respectively; p = 0.030). DISCUSSION: E3 is reduced during vibration in healthy individuals, presumably due to suppression of a reflex component, which is superimposed upon the known resynchronization of motoneurons.

Evaluation of patients with late-onset and medically refractory temporal lobe epilepsy with mesial temporal sclerosis.

OBJECTIVES: Our study aims to compare demographics, clinical features and postsurgical outcomes between early and late-onset patients with medically refractory temporal lobe epilepsy (TLE) related to mesial temporal sclerosis (MTS). PATIENTS AND METHODS: Seventy-one patients admitting to the Epilepsy Clinic of Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine between 1995-2015, who were diagnosed with refractory TLE related to MTS, were included in our study. All of these patients were resistant to medical treatment, and thus candidates for, or underwent surgery, and had no pathology other than MTS in their cranial magnetic resonance imaging (MRI). Based on previous studies, those patients were divided into two categories as "early-onset" and "late-onset", according to the age-onset of afebrile recurrent seizures, where the cutoff was determined as 20 years. Demographics, clinical features, and postsurgical outcomes were compared between both groups. RESULTS: Fifty-three patients included in our study had early-onset MTS-TLE, and 18 patients had late-onset MTS-TLE. Demographics, clinical features, characteristics of electroencephalography (EEG), MRI, PET MRI/CT, neuropsychometric test (NPT) and postsurgical outcomes were similar in both groups. CONCLUSION: In both the early-onset and late-onset groups, the presence of similar demographics, clinical features, and postoperative outcomes have suggested that the course of the disease and the success of surgical treatment were not associated with the age-onset of seizures in TLE related to MTS.

[Treatment approach to apnestic breathing in a patient with vocal cord paralysis due to Arnold Chiari malformation and tracheostomy]. / Arnold Chiari malformasyonu nedeniyle vokal kord paralizisi gelisen ve trakeostomi takilan hastada apnöstik solunuma tedavi yaklasimi.

Arnold Chiari malformation (ACM) is herniation of brain stem structures, especially cerebellar tonsils, from the foramen magnum into the cervical spinal canal. Sleep-related respiratory disorders are reported at a higher rate in this patient group than the general population, at about 60-75%. A 43-year-old male patient was diagnosed with ACM type 1.5 at the center where he applied with complaints of weakness in the extremities, speech disorder and syncope triggered by coughing, and a decompression of posterior fossa (PFD) was applied to the patient. Since 2018, the apnea attacks, which were able to be 6-7 times a night every night, last in 30 seconds, with eyes open, inactivity and bruising, have started in the patient, so in all night-time polysomnography (PSG) examination for diagnostic purpose, apnestic breathing including continuous, central and mixed type apneas in sleep and wakefulness was detected. Different modes (CPAP, BPAP-S/T, ASV) were tried with the cannula placed on the tracheostomy in the PSG performed for non-invasive mechanical ventilation therapy, but none alone was effective. In the patient, whom IVAPS/AVAPS mode was tried, all abnormal breathing events, irregular apnetic breathing pattern and oxygen desaturations were effectively controlled in all positions, wakefulness and all sleep stages with pressure support, respiratory rate and tidal volume support. PFD is recommended as the first-line treatment for the treatment of obstructive or central type apneas in ACM; Information on non-invasive mechanical ventilation therapy is insufficient. In this case, we aimed to present the difficulties in the diagnosis and treatment of sleep-related respiratory disorders in a patient whom ACM diagnosed, PFD was applied but underwent permanent trachoestomy due to bilateral vocal cord paralysis.

Modulation of the Somatosensory Blink Reflex in the Peripersonal Space Is Defective in Episodic Migraine.

OBJECTIVE: In migraine, there is an altered behavior of patients during the attack and an altered connectivity in the cortical structures modulating and encoding the sensation and pain. Thus, we hypothesized that the extent of the peripersonal space (PPS) and the responses in the PPS may change during a migraine attack. For this reason, we analyzed the modulation of somatosensory blink reflex (SBR) in the PPS during episodic migraine. DESIGN: Cross-sectional assessment of modulation of SBR in patients with migraine. SETTING: Headache outpatient clinic of a tertiary referral center. SUBJECTS: We included 22 patients with episodic migraine, of whom 13 individuals were in the interictal period and nine were experiencing a headache episode. We also included 14 healthy individuals. The three groups were similar in age and gender. METHODS: SBR was recorded when the participants were sitting with their forearm in the extrapersonal space and also when their hands were in the PPS surrounding the face. Latency, amplitude, and area under the curve (AUC) were measured and compared. RESULTS: The amplitude and AUC of the SBR were significantly higher in patients during the attack compared with healthy subjects. The magnitude of the SBR was increased in the PPS in healthy subjects, whereas the increase was not significant in patients during the attack or in the interictal period. CONCLUSIONS: We think that the modulation in the PPS is defective in patients with migraine both during the acute attack and in the interictal phase, suggesting diminished top-down modulation of the SBR.

Changes in brainstem excitatory and inhibitory pathways in dry eye syndrome.

BACKGROUND: We hypothesized that there may be changes in sensory integration pathways in patients with dry eye. To confront this issue, we analyzed blink reflex (BR), prepulse modulation (PPM) of BR, and excitability recovery of BR to paired stimuli in 17 experimental subjects with dry eye syndrome. METHOD: We included 17 experimental subjects, 8 with primary and 9 with secondary, dry eye syndrome. We also examined a control group of 14 age and gender matched control subjects. After clinical evaluation, we recorded BR, PPM of BR (at 50 and 100 ms intervals) and BR percentage recovery to paired stimulation (at 300 and 500 ms intervals). RESULTS: None of the patients had any spasm activity. Experimental subjects had significantly larger R2 and R2c AUCs, significantly greater excitability recovery at 300 ms interval and significantly reduced R2 and R2c prepulse inhibition, in comparison to control subjects. Experimental subjects with primary dry eye syndrome had higher number of spontaneous blinks than experimental subjects with secondary dry eye syndrome (54.0 ±â€¯10.3 for primary dry eye and 43.5 ±â€¯13.3 secondary dry eye). CONCLUSION: Our results are compatible with increased excitability and abnormalities in sensorimotor integration in blink reflex circuits of patients with dry eye. This suggests the development of adaptive changes in brainstem synaptic activity, aimed at facilitation of blinking in the context of increased sensory input from corneal irritation.

Long term sustained therapeutic effects of percutaneous posterior tibial nerve stimulation treatment of neurogenic overactive bladder in multiple sclerosis patients: 12-months results.

AIMS: The aim of this study is to determine the sustained therapeutic efficacy and treatment intervals for PTNS in NOAB with MS, offering periodic additional treatments during 1 year in patients who completed an initial course of 12 consecutive weekly sessions. METHODS: A total of 34 patients enrolled to the PTNS treatment and 21 patients completed the 1 year PTNS treatment with a tapering protocol of 6, 9, and 12 months of therapy, respectively. After 12 weeks of therapy, PTNS was applied at 14 day intervals for 3 months, 21 day intervals for 3 months, and 28 day intervals for 3 months. The patients completed a 3-day voiding diary at 3rd, 6th, 9th, and 12th month. The patients requested to complete validated questionnaires (ICIQ-SF, OAB-V8, OAB-q SF) were carried out within 3-month intervals thereafter during their enrolment in the study. RESULTS: A total of 21 patients were enrolled in the study. Of these 5 (23.8%) were men and 16 (76.2%) women. The improvements for all voiding diary parameters were significant in the 6th, 9th, and 12th months when compared with baseline. Mean values between baseline and 12 month parameters suggested that daytime frequency decreased by 5.4 voids daily, urge incontinence decreased by 3.4 episodes daily, urgency episodes decreased by 7.4 episodes daily, nocturia decreased by 2.6 voids, and voided volume improved by a mean of 72.1 cc. CONCLUSION: These results have demonstrated NOAB symptom improvement in MS patients can be achieved with 12 weekly PTNS treatments which show excellent durability over 12 months. Neurourol. Urodynam. 36:104-110, 2017. © 2015 Wiley Periodicals, Inc.

The Clinical and Urodynamic Results of Percutaneous Posterior Tibial Nerve Stimulation on Neurogenic Detrusor Overactivity in Patients With Parkinson's Disease.

OBJECTIVE: To investigate the effect of percutaneous posterior tibial nerve stimulation (PTNS) treatment after 12 weeks on urodynamic and clinical findings in patients with Parkinson's disease (PD) with neurogenic detrusor overactivity. METHODS: A total of 47 patients with PD with neurogenic detrusor overactivity were enrolled in the study. Urodynamic studies before and after 12-week PTNS treatment were performed. International Consultation on Incontinence Questionnaire Short Form (ICIQ-SF), Overactive Bladder Questionnaire (OAB-V8), and Overactive Bladder Questionnaire Short Form (OAB-q SF) have been assessed before and after PTNS treatment. RESULTS: The mean first involuntary detrusor contraction volume (1st IDCV) on standard cystometry was 133.2 ± 48.1 (24-265) mL, whereas it was 237.3 ± 43.1 (145-390) mL after PTNS. The mean maximum cystometric capacity (MCC) on standard cystometry was 202.2 ± 36.5 (115-320) mL, whereas it was 292.1 ± 50.6 (195-395) mL after stimulation. The improvements in the first involuntary detrusor contraction volume and maximum cystometric capacity were statistically significant after stimulation. The mean Pdetmax at first involuntary detrusor contraction, maximal detrusor pressure at maximum cystometric capacity, PdetQmax, Qmax, and post-void residual volume were statistically significant after 12-week stimulation. Mean parametric improvements at 12-week PTNS treatment from baseline included daytime frequency decreased by 5.6 voids daily, urge incontinence decreased by 3.1 episodes daily, urgency episodes decreased by 6.3 episodes daily, nocturia decreased by 2.7 voids, and voided volume improved by a mean of 92.6 mL. The change from baseline on the ICIQ-SF, OABv8, and OAB-q at 12-week PTNS treatment demonstrated statistically significant improvements. CONCLUSION: These results have demonstrated that PTNS improves the lower urinary tract symptoms and urodynamic parameters in patients with PD.