Sacral Neuromodulation in the Treatment of Non-Neurogenic Female Lower Urinary Tract Dysfunction; First Case-series and Systematic Review of Literature

Objective: To demonstrate which types of non-neurogenic female lower urinary tract dysfunction (LUTD) respond to sacral neuromodulation (SNM) after the failure of all non-invasive treatments.Materials and Methods: Female LUTD performed SNM between 2017 and 2019 were retrospectively reviewed. A case with anatomical or neurological abnormalities were excluded by thorough physical examination and investigations. The specific type of LUTD, including midurethral obstruction (MUO), was diagnosed by videourodynamics (VUDS). Clinical diagnoses, including idiopathic urinary retention (IUR), voiding dysfunction (VD) and refractory overactive bladder (OAB), were used instead of VUDS diagnosis when the result was normal or inconclusive. The International Prostate Symptom Score (IPSS) and Overactive Bladder Symptom Score (OABSS) in Thai version were used to compare between pre and post-treatment. Responder was defined as an IPSS and/or OABSS decreased more than 50% from baseline.Results: Total 21 cases were performed SNM. The average age was 49.6 (24–80) years. The average pre-treatment IPSS and OABSS were 23.4 and 6.4 as well as average post-treatment IPSS and OABSS were 13.7 and 3.8. Only 9 out of 21 cases (42.9%) showed improvement after SNM. The responders included 7 out of 11 MUO (63.6%), 1 out of 4 IUR (25.0%), and 1 out of 3 OAB (33.3%). None of the VD cases responded to SNM.Conclusion: SNM is another option for female patients with LUTD who have failed to respond to conservative treatments. After completely excluding anatomical and neurological abnormalities, the types of LUTD having a chance to respond to SNM are MUO, IUR, and OAB.

BMI, Alcohol Consumption and Gut Microbiome Species Richness Are Related to Structural and Functional Neurological Abnormalities

The incidence of neurological diseases is increasing throughout the world. The aim of the present study was to identify nutrition and microbiome factors related to structural and functional neurological abnormalities to optimize future preventive strategies. Methods: Two hundred thirty-eight patients suffering from (1) structural (neurodegeneration) or (2) functional (epilepsy) neurological abnormalities or (3) chronic pain (migraine) and 612 healthy control subjects were analyzed by validated 12-month food frequency questionnaire (FFQ) and 16S rRNA microbiome sequencing (from stool samples). A binomial logistic regression model was applied for risk calculation and functional pathway analysis to show which functional pathway could discriminate cases and healthy controls. Results: Detailed analysis of more than 60 macro- and micronutrients revealed no distinct significant difference between cases and controls, whereas BMI, insulin resistance and metabolic inflammation in addition to alcohol consumption were major drivers of an overall neurological disease risk. The gut microbiome analysis showed decreased alpha diversity (Shannon index: p = 9.1× 10−7) and species richness (p = 1.2 × 10−8) in the case group as well as significant differences in beta diversity between cases and controls (Bray–Curtis: p = 9.99 × 10−4; Jaccard: p = 9.99 × 10−4). The Shannon index showed a beneficial effect (OR = 0.59 (95%-CI (0.40, 0.87); p = 8 × 10−3). Cases were clearly discriminated from healthy controls by environmental information processing, signal transduction, two component system and membrane transport as significantly different functional pathways. Conclusions: In conclusion, our data indicate that an overall healthy lifestyle, in contrast to supplementation of single micro- or macronutrients, is most likely to reduce overall neurological abnormality risk and that the gut microbiome is an interesting target to develop novel preventive strategies.

IDENTIFICATION OF MOST COMMON CONGENITAL ABNORMALITY TYPES AMONG NEWBORN INFANTS: A HOSPITAL-BASED STUDY

The term “congenital abnormalities” signifies a disruption in the normal process of organogenesis occurring before birth: the earlier the insult, the grosser the abnormality. This research is the largest study aimed at identifying the most common congenital abnormality types among newborn infants in the neonatal care unit (NCU) of the Al-Kadhymia teaching hospital, Baghdad, Iraq. This prospective study was carried out during the period from February 1 to August 1, 2011. A total of 2700 neonates were admitted to the NCU, and 100 newborn infants in the nursery care unit were proven to have congenital abnormalities by physical examination alone. The questionnaire for neonatal evaluation included: gestational age, sex, body weight, and type of congenital anomaly. The results showed that of the total (100) affected neonates, 63 (63%) were full term, 55% had neurological abnormalities, followed by 12% with cleft lip and palate and then 11% with chromosomal abnormalities (most of them had Down syndrome, only 3 cases had Edward syndrome, and 1 case had Patau syndrome). It can be concluded that most of the affected newborns were full term, with a slight male predominance. The incidence of neurological abnormalities was higher than other types of birth defects.

Spinal cord compression as tumor onset: an unusual case report of Hodgkin lymphoma in a teenager

Background Spinal cord compression (SCC) is an uncommon, severe complication of Hodgkin lymphoma (HL), occurring in 0.2% of cases at the onset and in 6% during disease progression. We present a teenager with SCC with clinical onset of HL; her pre-existing neurological abnormalities covered the presence of an epidural mass, which could have misled us. Case presentation A 13-year-old girl presented with a three-month history of lower back pain and degrading ability to walk. She suffered from a chronic gait disorder due to her preterm birth. A magnetic resonance imaging of the spine revealed an epidural mass causing collapse of twelfth thoracic vertebra and thus compression and displacement of the spinal cord. Histological examination with immunohistochemical analysis of the epidural mass demonstrated a classic-type Hodgkin lymphoma. Early pathology-specific treatment allowed to avoid urgent surgery, achieve survival and restore of neurological function. Conclusions Children and adolescents with back pain and neurological abnormalities should be prioritized to avoid diagnostic delay resulting in potential loss of neurological function. SCC requires a prompt radiological assessment and an expert multidisciplinary management.

COVID-19 severity impacts on long-term neurological manifestation after hospitalisation

ABSTRACTBackgroundPreclinical and clinical investigations have argued for nervous system involvement in SARS-CoV-2 infection and for long term sequalae including neurological manifestationsMethodsa sample of 208 previously hospitalized COVID-19 patients, 165 patients were re-assessed at 6 months according to a structured standardized clinical protocol. Premorbid comorbidities and clinical status, severity of COVID-19 disease, complications during and after hospitalization were recorded.ResultsAt 6-month follow-up after hospitalisation due to COVID-19 disease, patients displayed a wide array of neurological symptoms, being fatigue (34%), memory/attention (31%), and sleep disorders (30%) the most frequent. Subjects reporting neurological symptoms were affected by more severe respiratory SARS-CoV-2 infection parameters during hospitalisation. At neurological examination, 37.4% of patients exhibited neurological abnormalities, being cognitive deficits (17.5%), hyposmia (15.7%) and postural tremor (13.8%) the most common. Patients with cognitive deficits at follow-up were comparable for age, sex and pre-admission comorbidities but experienced worse respiratory SARS-CoV-2 infection disease and longer hospitalisation.Conclusionslong term neurological manifestations after hospitalization due to COVID-19 infection affects one third of survivors. Multiple neurological abnormalities including mild cognitive impairment are associated with severity of respiratory SARS-CoV-2 infection.

Kostmann Syndrome With Neurological Abnormalities: A Case Report and Literature Review

Background: Severe congenital neutropenia (SCN), also known as Kostmann syndrome, is a rare heterogeneous group of diseases characterized by arrested neutrophil maturation in the bone marrow.Case Presentation: We report a case of Kostmann syndrome and review previously reported SCN cases with neurological abnormalities. A 10-year-old boy had a history of recurrent, once a month, infection starting at 6 months of age. He had neutropenia for more than 9 years, as well as intellectual disability. He was homozygous for the exon 3 c.430dupG mutation of the HAX1 gene NM-006118. After treatment of antibiotics and G-CSF, his symtoms were relieved and was 3 months free of infection. The search revealed 29 articles related to Kostmann syndrome caused by HAX1 gene mutation; they were screened, and the main clinical features of 13 cases of Kostmann syndrome with neurological abnormalities were summarized and analyzed.Conclusions: Kostmann syndrome has three main characteristics: severe neutropenia (<0.2 × 109/L), maturation arrest of granulopoiesis at the promyelocyte stage, and death due to infections. HAX1 gene mutations affecting both isoforms A and B are associated with additional neurological symptoms. G-CSF can improve and maintain neutrophil counts, and improve prognosis and quality of life. At present, hematopoietic stem cell transplantation is the only cure.

Multi-Parameter Neurological Study Based on Combined Conventional and Functional Assessments in Gaucher Disease Patients (SENOPRO_GAUCHER Study)

Gaucher Disease (GD), a metabolic inherited disorder, includes three clinical phenotypes. Type I GD (GD1), that can mimic a hematologic disease, has been classically considered as a non-neuropathic variant; type II (GD2) and type III (GD3) are classified as acute and chronic neuropathic forms, respectively. A protective role of N370S mutation against neurological impairment had been previously hypothesized in GD1, however, clinical signs of parkinsonism have recently been reported in this category of patients. The aim of our observational, monocentric, and prospective study, called SENOPRO_GAUCHER, was to evaluate in depth the neurological and neuropsychiatric aspects in GD1 patients, using clinical and instrumental investigations, in order to identify clinical and subclinical neurological manifestations, including cognitive impairment and behavioural alterations. Neurological assessments were scheduled for 22 GD patients (19 GD1 and 3 GD3) aged >12 years. Clinical evaluation, including Severity Scoring Tool Unified Parkinson's Disease Rating scale and Epworth Sleepiness scale; psychological tests and psychiatric evaluation, using a cognitive test battery and two psychiatric (BPRS) and psychological (CBA 2.0) questionnaires; somatosensory, motor and visual evoked potential, spectral domain optical coherence tomography (SD-OCT), standard electroretinogram; electroencephalography (EEG), and magnetic resonance (MR) 3Tesla, were planned at baseline, after 12 and 24 months. Results at the baseline evaluation of all 22 enrolled patients (9 males and 13 females; median age at the study: 44.5 years, range 17 - 68) are here reported. Regarding genotyping, all but one of the 19 GD1 pts was heterozygous for the N370S mutation. Parkinsonian motor signs were found in 10/22 patients (9 GD1): 7 pts (6 GD1) had isolated bradykinesia and 3 GD1 patients presented bradykinesia combined with rigidity. Abnormal saccadic movements were found in all GD3 pts and in one GD1. Excessive daytime sleepiness (EDS) was detected in 9/22 patients (8 GD1). EEG revealed focal, or diffuse slow waves in 6 patients (5 GD1). Significant cognitive impairments in attention, language, memory and executive functions were found in 4/19 GD1 and in 2/3 GD3 patients. Moreover, psychological and psychiatric evaluations underlined anxiety, depression and somatic concerns in 10/22 patients (9 GD1), combined with cognitive impairments in 3/12. Sixteen patients (13 GD1) showed slight or moderate sensorineural hearing loss (SNHL), and 4 of them had a cookie and reverse cookie bite morphology, typically associated with genetic SNHL. Ophthalmological evaluation revealed a degree of retinal blood vessel tortuosity in all but one patient, and superficial corneal dystrophies in 3 patients (2 GD1). An increased latency and moderate reduction in the amplitudes of optic nerve function were found in 13/22 patients (10 GD1). The SD-OCT examination showed impairment in retinal nerve fibre layers in 7 patients (6 GD1), combined with macular damage in 2 of them. Qualitative MR 3Tesla examinations revealed unspecific abnormalities in 7/19 (37%) GD1 patients; in particular, cortical and/or subcortical areas of gliosis (4 patients), vascular ectasia extended from the left frontal surface of the brain to the lateral ventricle (1 patient), dilation of perivascular spaces in the sub-cortical and nucleus-basal area (1 patient), diffuse suffering of the brain white matter due to a chronic ischemic vascular damage (1 patient). In summary, all GD3 patients showed a wide spectrum of neurological abnormalities, as expected. Surprisingly, however, all GD1 pts also presented at least two, or more, clinical and/or instrumental, neurological signs. The high prevalence of EDS in our population suggests a possible underlying sleep disorder which should be further investigated. The N370S mutation did not impact the likelihood of developing neurological abnormalities in our cohort of GD1 patients. In conclusion, our results have demonstrated that a multidisciplinary, and in-depth approach is necessary in evaluating GD1 patients. Disclosures Giona: Sanofi Genzyme: Research Funding, Speakers Bureau; Takeda: Speakers Bureau; Novartis: Research Funding.