- Symptoms and Impacts in Metastatic Castration-Resistant Prostate Cancer: Qualitative Findings from Patient and Physician Interviews. [Journal Article]
- PPatient 2018 Dec 06
- CONCLUSIONS: Chemotherapy-naïve patients with metastatic castration-resistant prostate cancer experience a substantial burden from their condition. Furthermore, as castration-resistant prostate cancer progresses from the non-metastatic stage to the early metastatic (pre-chemotherapy) stage, certain symptoms become more common and disturb patients' lives to a greater extent. The resulting conceptual model for metastatic castration-resistant prostate cancer highlights areas that are not adequately assessed with current patient-reported outcome instruments.
- Ethical issues with early genitoplasty in children with disorders of sex development. [Journal Article]
- COCurr Opin Endocrinol Diabetes Obes 2018 Nov 30
- CONCLUSIONS: Early genitoplasty in children with DSDs is ethically complex and discordant results in DSD research makes generalizability difficult. There is unlikely to be a universal solution to the issue of early genitoplasty in children with DSDs; families must be supported while they weigh both parental decision-making and the objective of ensuring an open future for their child.
- Pain and health status in adults with myelomeningocele living in Sweden. [Journal Article]
- JPJ Pediatr Rehabil Med 2018 Nov 18
- CONCLUSIONS: Pain was frequent, and pain sites differed widely. Women were more likely to report that pain interfered with work, and scored lower on health, as did older persons.
- National survey of bladder and gastrointestinal dysfunction in people with spinal cord injury. [Journal Article]
- JNJ Neurotrauma 2018 Dec 01
- Small-scale studies indicate that spinal cord injury (SCI) may lead to significant gastrointestinal and bladder dysfunction. However, how the prevalence of chronic disease related to these dysfunctio...
Small-scale studies indicate that spinal cord injury (SCI) may lead to significant gastrointestinal and bladder dysfunction. However, how the prevalence of chronic disease related to these dysfunctions compares to non-SCI individuals and whether there are robust relationships to level and severity of injury are still unclear. Here, our goal was to provide high-level evidence on the association between bladder and gastrointestinal dysfunction and SCI using population-level data from the Canadian Community Health Survey (CCHS) and the SCI Community Survey. Here, data from more than 60,000 individuals in the 2010 CCHS and 1500 individuals with SCI from the SCI Community Survey were analyzed. We used bivariable and multivariable logistic regression to examine relationships between explanatory and outcome variables. We found that SCI was associated with increased odds of urinary incontinence (adjusted odds ratio [aOR] = 5.0, 95% confidence interval [CI]: 3.4-7.1), bowel disorders (aOR = 2.3, CI 1.5-3.5), as well as gastric ulcers (aOR: 3.3, CI: 2.1 - 4.8), even after adjusting for key confounding variables. Additionally, we found that complete SCI was associated with increased odds of urinary tract infections (aOR = 2.0, CI 1.6-2.5) and bowel incontinence (aOR = 2.1, CI 1.7-2.6). Individuals with SCI are at increased odds of having bladder and gastrointestinal dysfunction, certain aspects of which are dependent on the level and severity of injury. Targeted intervention and prevention strategies to manage bladder and bowel problems after SCI should be a priority for both caregivers and policy makers.
- Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review. [Journal Article]
- ACActa Clin Belg 2018 Dec 03; :1-5
- We describe a boy who presented with neonatal hypotonia, followed by delayed motor development and growth impairment. Further evaluation revealed rickets caused by proximal renal tubular dysfunction....
We describe a boy who presented with neonatal hypotonia, followed by delayed motor development and growth impairment. Further evaluation revealed rickets caused by proximal renal tubular dysfunction. At age 3, the boy exhibited dysmorphic features and bilateral cataract. Genetic analysis of the OCRL gene showed a novel variant in exon 13: c.1250T>A, p.Val417Asp; in silico and segregation analysis confirmed the variant to be pathogenic, compatible with the diagnosis of the oculocerebrorenal syndrome of Lowe. Lowe syndrome is a rare multisystemic disorder; the diagnostic triad requires involvement of the eye, central nervous system and the proximal renal tubule. Typical clinical features are congenital cataract, glaucoma, hypotonia, mental and behavioral problems, benign skin lesions, platelet dysfunction and dental abnormalities. Phenotypic features early in life may be nonspecific, which is illustrated by this case with a late manifestation of cataract. Because an early diagnosis can lead to better counseling and treatment, we suggest urinary testing for proteinuria as a part of the evaluation of children with unexplained hypotonia.
- Permanent 125 I prostate brachytherapy for castration-resistant prostate cancer. [Journal Article]
- IJInt J Urol 2018 Dec 04
- CONCLUSIONS: Brachytherapy with 125 I seed implantation can effectively prolong survival of patients with castration-resistant prostate cancer and, to a certain extent, improve patients' quality of life.
- Clinical Rating Scales for Urinary Symptoms in Parkinson Disease: Critique and Recommendations. [Review]
- MDMov Disord Clin Pract 2018 Sep-Oct; 5(5):479-491
- CONCLUSIONS: The Task Force does not recommend the development of a new scale. However, all above-mentioned questionnaires need to be studied further and specifically validated in PD.
- Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature. [Journal Article]
- WJWorld J Clin Cases 2018 Nov 26; 6(14):786-790
- Glutaric acidemia type II (GAII), also known as multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAII wi...
Glutaric acidemia type II (GAII), also known as multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAII with novel electron transfer flavoprotein (ETF)-A mutations in a 2-year-old female with thalassemia minor. The patient developed an episode of hypoglycemia and hypotonicity on the postnatal first day. Laboratory investigations revealed elevations of multiple acyl carnitines indicating glutaric acidemia type II in newborn screening analysis. Urinary organic acids were evaluated for the confirmation and revealed a high glutaric acid excretion. Genetic analysis revealed two novel mutations in the ETF-A gene, which are considered to be compound heterozygote. At the 8 mo of life ketone therapy was added, which significantly increased the neuromotor development. The patient had been closely followed for two years with carnitine, riboflavin, coenzyme Q10, and ketone supplementation in addition to a high carbohydrate diet. Although the patient had comorbidity like thalassemia minor, her neuromotor development was normal for her age and had no major health problems. This specific case expands the previously reported spectrum of this disease.
- Bladder management experiences among people living with neurologic disease: A systematic review and meta-synthesis of qualitative research. [Journal Article]
- NUNeurourol Urodyn 2018 Nov 29
- To systematically review the qualitative literature on neurogenic bladder management to better understand the relevant psychosocial issues.
To systematically review the qualitative literature on neurogenic bladder management to better understand the relevant psychosocial issues.
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- Standardized terminology systems in cytopathology. [Journal Article]
- DCDiagn Cytopathol 2018 Nov 29
- There has been increasing pressure for systemization in cytopathology. Lack of uniformity in categorization, variation in opinion based regional practice, and technologic advancement have created an ...
There has been increasing pressure for systemization in cytopathology. Lack of uniformity in categorization, variation in opinion based regional practice, and technologic advancement have created an environment disposed toward creation of more consistent evidence-based approaches to diagnostic problems. This review provides an overview of the major standardized terminology systems in cytology, with historical perspectives and commentary on current uses of these systems. These systems now include gynecologic, thyroid, pancreaticobiliary, urinary, salivary gland, and breast cytology. We summarize major classification systems supported by national and international professional organizations, outlining the structure and goals of each system. Specific benefits and potential pitfalls in the implementation of each system are given. Finally, we address potential criticisms of standardized terminology systems and proposed future directions to continue the evolution of standardized terminology to improve clinical practice.