The Association of Lyme Disease With Loss of Sexual Libido and the Role of Urinary Bladder Detrusor Dysfunction

PurposeThe primary aim was to carry out a pilot study to compare the loss of sexual libido between a group of Lyme disease patients and a group of matched controls. The secondary aim was to evaluate whether loss of libido in Lyme disease patients is associated with urinary bladder detrusor dysfunction.MethodsA group of 16 serologically positive Lyme disease patients and 18 controls were queried directly about loss of libido.ResultsThe 2 groups were matched with respect to age, sex, body mass index, and mean arterial blood pressure. None of the 34 subjects was taking medication that might affect sexual libido or had undergone a previous operative procedure involving the genitourinary tract. Of the 16 Lyme disease patients, 8 (50%) had no loss of libido, and of the 18 controls, none had loss of libido (P<0.001). In the Lyme disease patient group, there was no statistically significant relationship between loss of libido and urinary bladder detrusor dysfunction (P=0.61).ConclusionsThis pilot study suggested an association between Lyme disease and loss of libido. Moreover, this loss of libido did not seem to be associated with urinary bladder detrusor dysfunction. Given these results, we recommend further studies to confirm the association

Urinary Bladder Detrusor Dysfunction Symptoms in Lyme Disease

Purpose Symptoms of urinary bladder detrusor dysfunction have been rarely reported in Lyme disease. The aim was to carry out the first systematic study to compare the prevalence of such symptoms in a group of Lyme disease patients and a group of matched controls. Methods A questionnaire relating to detrusor function was administered to 17 serologically positive Lyme disease patients and to 18 control subjects. Results The two groups were matched in respect of age, sex, body mass, and mean arterial blood pressure. None of the 35 subjects was taking medication which might affect urinary function and none had undergone a previous operative procedure on the lower urinary tract. Six of the Lyme patients (35%) and none of the controls (0%) had symptoms of detrusor dysfunction (P<0.01). Conclusions This first systematic controlled study confirms that Lyme disease is associated with urinary bladder detrusor dysfunction. Further evaluation of detrusor function is warranted in this disease

Hyperosmia in Lyme disease

Neurological involvement in Lyme disease has been reported to include meningitis, cranial neuropathy and radiculoneuritis. While it is known that in some cases of asceptic meningitis patients may develop hyperosmia, the association between hyperosmia and Lyme disease has not previously been studied. Objective To carry out the first systematic study to ascertain whether hyperosmia is also a feature of Lyme disease. Method A questionnaire regarding abnormal sensory sensitivity in respect of the sense of smell was administered to 16 serologically positive Lyme disease patients and to 18 control subjects. Results The two groups were matched in respect of age, sex and body mass. None of the 34 subjects was suffering from migraine. Eight (50%) of the Lyme patients and none (0%) of the controls suffered from hyperosmia (p=0.0007). Conclusion This first systematic controlled study showed that Lyme disease is associated with hyperosmia

Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome

Despite their good appetite, many females with Rett syndrome (RTT) meet the criteria for moderate to severe malnutrition. Although feeding difficulties may play a part in this, other constitutional factors such as altered metabolic processes are suspected. Irregular breathing is a common clinical feature, leading to chronic respiratory alkalosis or acidosis. We assumed that these changes in intracellular pH cause disturbances in the metabolic equilibrium, with important nutritional consequences. The study population consisted of a group of thirteen well-defined RTT girls with extended clinical, molecular and neurophysiological assessments. Despite normal levels of total dietary energy and protein intakes, malnutrition was confirmed based on significantly low fat-free mass index (FFMI) values. Biochemical screening of multiple metabolic pathways showed significantly elevated plasma creatine concentrations and increased urinary creatine/creatinine ratio in five RTT girls. Four girls, 10 years and older, were forceful breathers, one 13-year-old girl had an undetermined cardiorespiratory phenotype. An isolated increase of the urinary creatine/creatinine ratio was seen in two girls, a 9-year old forceful and a 4-year old feeble breather. Given that the young girls are feeble breathers and the older girls are forceful breathers, it is impossible to determine whether the elevated creatine concentrations are due to increasing age or cardiorespiratory phenotype. Furthermore, MeCP2 deficiency may cause epigenetic aberrations affecting the expression of the creatine-transporter gene, which is located at Xq28. Further studies are required to confirm these findings and to provide greater insight into the pathogenesis of the abnormal creatine metabolism in RTT

Neurophysiology Versus Clinical Genetics in Rett Syndrome: A Multicenter Study

Many studies have attempted to establish the genotype–phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correlate the genotype with the quantitative cardiorespiratory data obtained by neurophysiological measurement combined with a clinical severity score. This international multicenter study was conducted in four European countries from 1999 to 2012. The study cohort consisted of a group of 132 well‐defined RTT females aged between 2 and 43 years with extended clinical, molecular, and neurophysiological assessments. Diagnosis of RTT was based on the consensus criteria for RTT and molecular confirmation. Genotype–phenotype analyses of clinical features and cardiorespiratory data were performed after grouping mutations by the same type and localization or having the same putative biological effect on the MeCP2 protein, and subsequently on eight single recurrent mutations. A less severe phenotype was seen in females with CTS, p.R133C, and p.R294X mutations. Autonomic disturbances were present in all females, and not restricted to nor influenced by one specific group or any single recurrent mutation. The objective information from non‐invasive neurophysiological evaluation of the disturbed central autonomic control is of great importance in helping to organize the lifelong care for females with RTT. Further research is needed to provide insights into the pathogenesis of autonomic dysfunction, and to develop evidence‐based management in RTT. © 2016 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc

La variante di Hanefeld e il Gene CDLK5

NODefinita come una patologici dello sviluppo neurologico che colpisce processi maturativi specifici delle cellule nervose, la sindrome di Rett (RTT) comporta la compromissione dello sviluppo cerebrale ed un conseguente grave deficit dell\u27organismo. L\u27eziologia della sindrome ? imputabile all\u27alterazione del gene MECP2 o di altri geni ad esso col lega li, localizzati nel cromosoma X. Ci? spiega l\u27insorgenza della malattia quasi esclusivamente nelle femmine con un \u27incidenza di 1:12000, manifestandosi dopo un primo anno di vita apparentemente normale. La lettura di questo volume - che individua le principali aree di ricerca nelle due sezioni "Clinica e natura della sindrome d? Reti" e "Terapia, comunicazione, integrazione sociale" - pu? servire a incoraggiare genitori, medici, insegnanti e terapisti del linguaggio e della motricit? nel conviincimento che intervenire con successo nei complessi risvolti clinici e sociali della RTT ? possibile, avendo cura di difendete le pazienti dalle pi? comuni complicanze neurologiche e ortopediche e aprendo un vano nel loro isolamento sociale e scolastico attraverso un adeguato e personalizzato intervento cognitivo e psicomotorio che favorisca la mobilit? e la comunicazion

Correction to: Variant of Rett Syndrome and CDKL5 gene: clinical and autonomic description of 10 cases

No abstract available

Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases

No abstract available