Sexual Impotence and the Limbic System

1965 ◽  
Vol 111 (473) ◽  
pp. 300-303 ◽  
Author(s):  
John Johnson
Keyword(s):  
Natural History ◽  
Frontal Lobe ◽  
Temporal Lobe ◽  
Limbic System ◽  
Posterior Part ◽  
First Case ◽  
History Of ◽  
Sexual Impotence ◽  
Male Patients

Seventy-six male patients referred to the Maudsley Hospital with a primary complaint of impaired sexual potency were studied in order to define the natural history of these conditions (to be reported). Two of the patients who complained of impotence were found to have intracerebral tumours. In the first case the tumour was limited to the temporal lobe: in the second case it was situated in the posterior part of the frontal lobe.

scholarly journals The “Natural” History of Medically Treated Temporal Lobe Epilepsy: What Can an Evidence-Based Approach Tell Us?

2012 ◽  
Vol 2012 ◽  
pp. 1-8
Author(s):  
Colin Bruce Josephson ◽  
Bernhard Pohlmann-Eden
Keyword(s):  
Natural History ◽  
Temporal Lobe Epilepsy ◽  
Temporal Lobe ◽  
Population Based ◽  
Seizure Freedom ◽  
History Of ◽  
Prospective Cohorts ◽  
Eeg Recordings ◽  
Incident Cases ◽  
Treatment Prognosis

We systematically reviewed the literature to describe the “natural” history of medically treated temporal lobe epilepsy (TLE). No population-based studies recruiting incident cases of TLE irrespective of age exist. Prospective, population-based studies were limited to those recruiting only childhood-onset TLE or those reporting TLE as a subgroup of cohorts of focal epilepsies. Few studies have been performed in the “MRI era” limiting information on natural history secondary to specific pathologies. Available data suggests that TLE is highly variable, with unpredictable transient remissions and low rates of seizure freedom (30 to 50%). Etiology and failure of first and second drug seem to be the most important predictors for treatment prognosis. The role of initial precipitating injuries remains speculative, as imaging information of related events is either missing or conflicting. Prospective cohorts of new-onset TLE with long-term followup using advanced MRI techniques, timely EEG recordings, and assessments of psychiatric comorbidities are needed.

scholarly journals SOD1 Mutation Spectrum and Natural History of ALS Patients in a 15-Year Cohort in Southeastern China

2021 ◽  
Vol 12 ◽  
Author(s):  
Lu-Xi Chen ◽  
Hai-Feng Xu ◽  
Pei-Shan Wang ◽  
Xin-Xia Yang ◽  
Zhi-Ying Wu ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Natural History ◽  
Diagnostic Delay ◽  
Mutation Spectrum ◽  
Survival Duration ◽  
Southeastern China ◽  
History Of ◽  
Male Patients ◽  
The Mean ◽  
Als Patients

Background: Mutations in superoxide dismutase 1 gene (SOD1) are the most frequent high penetrant genetic cause for amyotrophic lateral sclerosis (ALS) in the Chinese population. A detailed natural history of SOD1-mutated ALS patients will provide key information for ongoing genetic clinical trials.Methods: We screened for SOD1 mutations using whole exome sequencing (WES) in Chinese ALS cases from 2017 to 2021. Functional studies were then performed to confirm the pathogenicity of novel variants. In addition, we enrolled previously reported SOD1 mutations in our centers from 2007 to 2017. The SOD1 mutation spectrum, age at onset (AAO), diagnostic delay, and survival duration were analyzed.Results: We found two novel SOD1 variants (p.G17H and p.E134*) that exerted both gain-of-function and loss-of-function effects in vitro. Combined with our previous SOD1-mutated patients, 32 probands with 21 SOD1 mutations were included with the four most frequently occurring mutations of p.V48A, p.H47R, p.C112Y, and p.G148D. SOD1 mutations account for 58.9% of familial ALS (FALS) cases. The mean (SD) AAO was 46 ± 11.4 years with a significant difference between patients carrying mutations in exon 1 [n = 5, 34.6 (12.4) years] and exon 2 [n = 8, 51.4 (8.2) years] (p = 0.038). The mean of the diagnostic delay of FALS patients is significantly earlier than the sporadic ALS (SALS) patients [9.5 (4.8) vs. 20.3 (9.3) years, p = 0.0026]. In addition, male patients survived longer than female patients (40 vs. 16 months, p = 0.05).Conclusion: Our results expanded the spectrum of SOD1 mutations, highlighted the mutation distribution, and summarized the natural history of SOD1-mutated patients in southeastern China. Male patients were found to have better survival, and FALS patients received an earlier diagnosis. Our findings assist in providing a detailed clinical picture, which is important for ongoing genetic clinical trials.

Adult Presentation of a Familial-Associated Vein of Galen Aneurysmal Malformation: Case Report

Neurosurgery ◽  
2010 ◽  
Vol 67 (6) ◽  
pp. E1845-E1851 ◽  
Author(s):  
David S Xu ◽  
Asad A Usman ◽  
Michael C Hurley ◽  
Christopher S Eddleman ◽  
Bernard R Bendok
Keyword(s):  
Case Report ◽  
Natural History ◽  
Vein Of Galen ◽  
Review Of The Literature ◽  
Time Resolved ◽  
Presenting Symptoms ◽  
First Case ◽  
Life Threatening ◽  
History Of ◽  
Asymptomatic Adult

Abstract BACKGROUND AND IMPORTANCE: Vein of Galen aneurysmal malformations (VGAMs) arise from persistent arteriovenous shunting from primitive choroidal vessels into the median prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. VGAMs rarely present past infancy, and their natural history in adults is unknown. We report the first case of a familial-associated VGAM in an asymptomatic adult female patient. The clinical features of this case are presented alongside a systematic review of the literature on adult VGAM cases to assess the natural history, clinical management, and genetic basis of this rare neurovascular lesion. CLINICAL PRESENTATION: A previously healthy 44-year-old woman with a family history of a VGAM in a stillborn presented with an 8-week onset of dizziness and vertigo that spontaneously resolved. Time-resolved magnetic resonance angiography identified a choroidal VGAM. No intervention was undertaken at this time because of the patient's asymptomatic status after 9 months of follow-up. CONCLUSION: Based on our review of the literature, this is the first case report of a familial-associated VGAM in an adult patient and suggests that VGAM development can be genetically linked. Of 15 adult VGAM cases previously reported, all patients were either symptomatic or treated, thus precluding determination of VGAM natural history in adults. Patient outcomes correlated with the severity of presenting symptoms, which ranged from asymptomatic to immediately life-threatening. We hypothesize that self-selection may render VGAMs to be more benign for them to persist past childhood. Further investigation of the molecular biology underlying VGAM development is warranted.

A Natural History of Survivable Communications

2017 ◽  
Keyword(s):  
Natural History ◽  
The Internet ◽  
Channel Switching ◽  
Radio Communications ◽  
First Case ◽  
Shortwave Radio ◽  
History Of ◽  
Meteor Trails ◽  
Store And Forward ◽  
The Cold War

This chapter examines two ill-fated DRTE projects intended to circumvent the problematic ionosphere above Canada, providing “survivable communications” during the Cold War. The first sought to use meteor trails as reflection surfaces for shortwave radio communications; the second attempted to build machines that automatically probed the ionosphere and chose the best communications frequency for a given radio circuit. Each system embodied concepts central to later forms of “distributed communications” like the internet: in the first case, store-and-forward communications; in the second, real-time channel switching. The chapter illustrates how the history of those concepts is, in part, a history of the natural orders that helped support these systems and generate their central concepts. Together, the two projects signaled the shift to alternative natural and machinic orders, creating the conditions for the final abandonment of the Northern shortwave project.

scholarly journals CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy

2020 ◽  
Vol 10 (2) ◽  
pp. 107 ◽  
Author(s):  
Martyna Jakimiec ◽  
Justyna Paprocka ◽  
Robert Śmigiel
Keyword(s):  
Natural History ◽  
Clinical Symptoms ◽  
Epileptic Seizures ◽  
Epileptic Encephalopathy ◽  
Psychomotor Development ◽  
Serine Threonine Kinase ◽  
Threonine Kinase ◽  
History Of ◽  
Male Patients ◽  
Cdkl5 Disorder

CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional CDKL5 protein, i.e., serine-threonine kinase (previously referred to as STK9), or its complete absence. The clinical picture is characterized by epileptic seizures (that start within the first three months of life and most often do not respond to pharmacological treatment), epileptic encephalopathy secondary to seizures, and retardation of psychomotor development, which are often observed already in the first months of life. Due to the fact that CDKL5 is located on the X chromosome, the prevalence of CDD among women is four times higher than in men. However, the course is usually more severe among male patients. Recently, many clinical centers have analyzed this condition and provided knowledge on the function of CDKL5 protein, the natural history of the disease, therapeutic options, and their effectiveness and prognosis. The International CDKL5 Disorder Database was established in 2012, which focuses its activity on expanding knowledge related to this condition and disseminating such knowledge to the families of patients.

scholarly journals Natural History of Temporal Lobe Epilepsy: Antecedents and Progression

2012 ◽  
Vol 2012 ◽  
pp. 1-8 ◽  
Author(s):  
Garima Shukla ◽  
Asuri N. Prasad
Keyword(s):  
Natural History ◽  
Temporal Lobe Epilepsy ◽  
Temporal Lobe ◽  
Viral Infections ◽  
Age Of Onset ◽  
Intractable Epilepsy ◽  
Latency Period ◽  
Published Data ◽  
Treatment Resistant ◽  
History Of

Temporal lobe epilepsy represents the largest group of patients with treatment resistant/medically intractable epilepsy undergoing epilepsy surgery. The underpinnings of common forms of TLE in many instances begin in early life with the occurrence of an initial precipitating event. The first epileptic seizure often occurs after a variable latency period following this event. The precise natural history and progression following the first seizure to the development of TLE, its subsequent resolution through spontaneous remission or the development of treatment resistant epilepsy remain poorly understood. Our present understanding of the role played by these initial events, the subsequent latency to development of temporal lobe epilepsy, and the emergence of treatment resistance remains incomplete. A critical analysis of published data suggest that TLE is a heterogeneous condition, where the age of onset, presence or absence of a lesion on neuroimaging, the initial precipitating event, association with febrile seizures, febrile status epilepticus, and neurotropic viral infections influence the natural history and outcome. The pathways and processes through which these variables coalesce into a framework will provide the basis for an understanding of the natural history of TLE. The questions raised need to be addressed in future prospective and longitudinal observational studies.

scholarly journals SOD1 mutation spectrum and natural history of ALS patients in a 15-year Cohort in Southeastern China

2021 ◽  
Author(s):  
Lu-xi Chen ◽  
Hai-feng Xu ◽  
Pei-Shan Wang ◽  
Xin-Xia Yang ◽  
Zhi-Ying Wu ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Natural History ◽  
Diagnostic Delay ◽  
Mutation Spectrum ◽  
Survival Duration ◽  
Southeastern China ◽  
History Of ◽  
Male Patients ◽  
The Mean ◽  
Als Patients

Abstract Background Mutations in superoxide dismutase 1 gene (SOD1) are the most frequent high penetrant genetic cause for amyotrophic lateral sclerosis (ALS) in the Chinese population. A detailed natural history of SOD1-mutated ALS patients will provide key information for ongoing genetic clinical trials. Methods We screened for SOD1 mutations using whole exome sequencing (WES) in Chinese ALS cases from 2017 to 2021. Functional studies were then performed to confirm the pathogenicity of novel variants. In addition, we enrolled previously reported SOD1 mutations in our centers from 2007 to 2017. The SOD1 mutation spectrum, age at onset (AAO), diagnostic delay, and survival duration were analyzed. Results We found two novel SOD1 variants (p.G17H and p.E134*) that exerted both gain-of-function and loss-of-function effects in vitro. Combined with our previous SOD1-mutated patients, thirty-two probands with 21 SOD1 mutations were included with the four most frequently occurring mutations of p.V48A, p.H47R, p.C112Y, and p.G148D. SOD1 mutations account for 58.9% of familial ALS (FALS) cases. The mean (SD) AAO was 46 ± 11.4 years with a significant difference between patients carrying mutations in exon 1 [n = 5, 34.6 (12.4) years] and exon 2 [n = 8, 51.4 (8.2) years] (p = 0.038). The mean of the diagnostic delay of FALS patients is significantly earlier than the sporadic ALS (SALS) patients [9.5 (4.8) years vs 20.3 (9.3) years, p = 0.0026]. In addition, male patients survived longer than female patients (40 months vs 16 months, p = 0.05). Conclusion Our results expanded the spectrum of SOD1 mutations, highlighted the mutation distribution, and summarized the natural history of SOD1-mutated patients in Southeastern China. Male patients were found to have better survival, and FALS patients received an earlier diagnosis. Our findings assist in providing a detailed clinical picture, which is important for ongoing genetic clinical trials.

scholarly journals The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration

2018 ◽  
Vol 104 (1) ◽  
pp. 118-126 ◽  
Author(s):  
Irene C Huffnagel ◽  
Fiza K Laheji ◽  
Razina Aziz-Bose ◽  
Nicholas A Tritos ◽  
Rose Marino ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Natural History ◽  
Adrenal Insufficiency ◽  
Cerebral Disease ◽  
Spinal Cord Disease ◽  
On Demand ◽  
Age Dependent ◽  
History Of ◽  
Male Patients

Abstract Context Primary adrenal insufficiency is an important clinical manifestation of X-linked adrenoleukodystrophy (ALD). Other manifestations include spinal cord disease and/or inflammatory demyelinating cerebral disease. Implementation of newborn screening requires natural history data to develop follow-up recommendations. Objective To delineate the natural history of adrenal insufficiency in male patients with ALD and to assess associations between the risk for developing adrenal insufficiency, spinal cord disease, or cerebral disease and plasma C26:0/C22:0 and C24:0/C22:0 ratios, which are diagnostic biomarkers for ALD. Design Retrospective review of medical records. Setting Two international tertiary referral centers of expertise for ALD. Patients Male patients with ALD followed at the centers between 2002 and 2016. Main Outcome Measures The primary endpoint was adrenal insufficiency; secondary endpoints were spinal cord and cerebral disease. Results Data on 159 male patients was available. The probability of developing adrenal insufficiency was described with survival analysis. Median time until adrenal insufficiency was 14 years (95% CI, 9.70 to 18.30 years). The cumulative proportion of patients who developed adrenal insufficiency was age-dependent and highest in early childhood [0 to 10 years, 46.8% (SEM 0.041%); 11 to 40 years, 28.6% (SEM, 0.037%); >40 years, 5.6% (SEM, 0.038%)]. No association between clinical manifestations and plasma ratios was detected with Cox model or Spearman correlation. Conclusions Lifetime prevalence of adrenal insufficiency in male patients with ALD is ~80%. Adrenal insufficiency risk is time-dependent and warrants age-dependent follow-up. Besides on-demand testing if symptoms manifest, we suggest a minimum of adrenal testing every 4 to 6 months for patients age ≤10 years, annual testing for those age 11 to 40 years, and solely on-demand testing for those age >40 years.

scholarly journals The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)

2020 ◽  
Vol 40 (7) ◽  
pp. 1026-1037
Author(s):  
Vassilios Lougaris ◽  
Andrea Pession ◽  
Manuela Baronio ◽  
Annarosa Soresina ◽  
Roberto Rondelli ◽  
...  
Keyword(s):  
Natural History ◽  
Regional Distribution ◽  
Primary Immunodeficiencies ◽  
Comprehensive Description ◽  
Replacement Treatment ◽  
History Of ◽  
Male Patients ◽  
Immunoglobulin Replacement ◽  
Combined Immunodeficiencies

Abstract Primary immunodeficiencies (PIDs) are heterogeneous disorders, characterized by variable clinical and immunological features. National PID registries offer useful insights on the epidemiology, diagnosis, and natural history of these disorders. In 1999, the Italian network for primary immunodeficiencies (IPINet) was established. We report on data collected from the IPINet registry after 20 years of activity. A total of 3352 pediatric and adult patients affected with PIDs are registered in the database. In Italy, a regional distribution trend of PID diagnosis was observed. Based on the updated IUIS classification of 2019, PID distribution in Italy showed that predominantly antibody deficiencies account for the majority of cases (63%), followed by combined immunodeficiencies with associated or syndromic features (22.5%). The overall age at diagnosis was younger for male patients. The minimal prevalence of PIDs in Italy resulted in 5.1 per 100.000 habitants. Mortality was similar to other European registries (4.2%). Immunoglobulin replacement treatment was prescribed to less than one third of the patient cohort. Collectively, this is the first comprehensive description of the PID epidemiology in Italy.

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