A Cohort of 469 Mayer-Rokitansky-Küster-Hauser Syndrome Patients-Associated Malformations, Syndromes, and Heterogeneity of the Phenotype.

The Mayer-Rokitansky-Küster-Hauser syndrome is characterized by aplasia of the uterus and upper two-thirds of the vagina. While it can appear as an isolated genital malformation, it is often associated with extragenital abnormalities, with little still known about the pathogenetic background. To provide an overview of associated malformations and syndromes as well as to examine possible ties between the rudimentary tissue and patient characteristics, we analyzed a cohort of 469 patients with MRKHS as well as 298 uterine rudiments removed during surgery. A total of 165 of our patients (35.2%) had associated malformations (MRKHS type II). Renal defects were the most common associated malformation followed by skeletal abnormalities. Several patients had atypical associated malformations or combined syndromes. Uterine rudiments were rarer in patients with associated malformations than in patients without them. Rudiment size ranged from 0.3 cm3 to 184.3 cm3 with a mean value of 7.9 cm3. Importantly, MRKHS subtype or concomitant malformations were associated with a different frequency of uterine tissue as well as a different rudiment size and incidence of endometrial tissue, thereby indicating a clear heterogeneity of the phenotype. Further research into the associated molecular pathways and potential differences between MRKHS subtypes is needed.

[Validation of the Geriatric Check in a cohort of hospitalized neurological patients]. / Validierung des Geriatrie-Checks in einer Kohorte von stationären neurologischen Patienten.

BACKGROUND: The Geriatrie-Check was developed as a screening tool for the identification of older patients with geriatric treatment requirements in hospitals. It was recommended by the Baden-Wuerttemberg Hospitals Association for routine use in hospitals in 2014 although no published validation studies are available. The test takes 3-5 min. AIM: Validation of the Geriatrie-Check in a prospective cohort of hospitalized neurological patients with and without geriatric characteristics. METHODS: In this prospective cross-sectional observational study at the University Hospital Tübingen, Germany the Geriatrie-Check was compared with a comprehensive geriatric assessment in 107 neurological inpatients aged 70 years and older (41% women, mean age 76.7 years). RESULTS: The Geriatrie-Check classified 61 patients (57%) as geriatric patients. These patients with a positive result in the Geriatrie-Check had a higher percentage of frailty (according to Fried et al.), higher values in the Gérontopôle frailty screening tool, higher values in the geriatric screening according to Lachs et el., slower gait speed, lower grip force, needed longer for the timed up-and-go test, had a greater fear of falling in the Falls Efficacy Scale - International, lower scores in the Mini Mental State Examination, needed more time to perform the Trail Making Test A and B, had higher values in the Beck's Depressions Inventar II and lower values in the visual analogue scale of the EQ-5D. A higher percentage of patients took more than five different drugs. INTERPRETATION AND CONCLUSION: The Geriatrie-Check has been shown to be a useful and valid tool for the identification of geriatric inpatients in neurological wards due to the good agreement with the results of the geriatric assessment.

Wearables for gait and balance assessment in the neurological ward - study design and first results of a prospective cross-sectional feasibility study with 384 inpatients.

BACKGROUND: Deficits in gait and balance are common among neurological inpatients. Currently, assessment of these patients is mainly subjective. New assessment options using wearables may provide complementary and more objective information. METHODS: In this prospective cross-sectional feasibility study performed over a four-month period, all patients referred to a normal neurology ward of a university hospital and aged between 40 and 89 years were asked to participate. Gait and balance deficits were assessed with wearables at the ankles and the lower back. Frailty, sarcopenia, Parkinsonism, depression, quality of life, fall history, fear of falling, physical activity, and cognition were evaluated with questionnaires and surveys. RESULTS: Eighty-two percent (n = 384) of all eligible patients participated. Of those, 39% (n = 151) had no gait and balance deficit, 21% (n = 79) had gait deficits, 11% (n = 44) had balance deficits and 29% (n = 110) had gait and balance deficits. Parkinson's disease, stroke, epilepsy, pain syndromes, and multiple sclerosis were the most common diseases. The assessment was well accepted. CONCLUSIONS: Our study suggests that the use of wearables for the assessment of gait and balance features in a clinical setting is feasible. Moreover, preliminary results confirm previous epidemiological data about gait and balance deficits among neurological inpatients. Evaluation of neurological inpatients with novel wearable technology opens new opportunities for the assessment of predictive, progression and treatment response markers.

Corrigendum: White Matter Changes-Related Gait and Executive Function Deficits: Associations with Age and Parkinson's Disease.

[This corrects the article on p. 213 in vol. 9, PMID: 28713264.].

White Matter Changes-Related Gait and Executive Function Deficits: Associations with Age and Parkinson's Disease.

Background: White matter changes (WMC) are a common finding among older adults and patients with Parkinson's disease (PD), and have been associated with, e.g., gait deficits and executive dysfunction. How the factors age and PD influence WMC-related deficits is, to our best knowledge, not investigated to date. We hypothesized that advanced age and presence of PD leads to WMC-related symptoms while practicing tasks with a low complexity level, and low age and absence of PD leads to WMC-related symptoms while practicing tasks with a high complexity level. Methods: Hundred and thirty-eight participants [65 young persons without PD (50-69 years, yPn), 22 young PD patients (50-69 years, yPD), 36 old persons without PD (70-89 years, oPn) and 15 old PD patients (70-89 years, oPD)] were included. Presence and severity of WMC were determined with the modified Fazekas score. Velocity of walking under single and dual tasking conditions and the Trail Making Test (TMT) were used as gait and executive function parameters. Correlations between presence and severity of WMC, and gait and executive function parameters were tested in yPn, yPD, oPn, and oPD using Spearman's rank correlation, and significance between groups was evaluated with Fisher's z-transformed correlation coefficient. Results: yPn and yPD, as well as oPn and oPD did not differ regarding demographic and clinical parameters. Severity of WMC was not significantly different between groups. yPn and yPD displayed significant correlations of WMC with executive function parameters at low levels of task complexity, oPn at intermediate, and oPD at high complexity levels. Conclusion: This study argues for a relevant association of age and PD-related brain pathology with WMC-related gait and executive function deficits.

No relevant association of kinematic gait parameters with Health-related Quality of Life in Parkinson's disease.

BACKGROUND: Health-related Quality of Life (HrQoL) is probably the most important outcome parameter for the evaluation and management of chronic diseases. As this parameter is subjective and prone to bias, there is an urgent need to identify objective surrogate markers. Gait velocity has been shown to be associated with HrQoL in numerous chronic diseases, such as Parkinson's disease (PD). With the development and wide availability of simple-to-use wearable sensors and sophisticated gait algorithms, kinematic gait parameters may soon be implemented in clinical routine management. However, the association of such kinematic gait parameters with HrQoL in PD has not been assessed to date. METHODS: Kinematic gait parameters from a 20-meter walk from 43 PD patients were extracted using a validated wearable sensor system. They were compared with the Visual Analogue Scale of the Euro-Qol-5D (EQ-5D VAS) by performing a multiple regression analysis, with the International Classification of Functioning, Disability and Health (ICF) model as a framework. RESULTS: Use of assistive gait equipment, but no kinematic gait parameter, was significantly associated with HrQoL. CONCLUSION: The widely accepted concept of a positive association between gait velocity and HrQoL may, at least in PD, be driven by relatively independent parameters, such as assistive gait equipment.