Paget-von Schroetter syndrome: case description in the light of the literature

A 27 year old patient with a thrombosis of the subclavian vein (Paget- von Schroetter's-syndrome) was treated successfully with a systemic streptokinase thrombolysis. Indications and success of the different therapeutic ways in current literature (conventional management, systemic and local thrombolysis) are compared to each other. The authors prefer treatment with systemic thrombolysis, patients with contraindications should be treated with conservative management. Nevertheless no final conclusions can be drawn, as there are no controlled studies comparing the different concepts in treatment.     

A novel 5q35.3 subtelomeric deletion syndrome

We observed a novel 3.5 Mb 5q subtelomeric deletion in a 3-year-old girl with developmental delay, hypotonia and multiple minor anomalies. Comparison of her phenotype with the few published patients with terminal 5q35 deletions revealed several overlapping features, but also showed remarkable differences such as shortness of stature versus macrosomia. After the report of 5q35.3 microdeletions in Sotos syndrome we integrated the published BACs into the public draft sequence and exactly mapped the deletion size in our patient by FISH analysis with 15 BAC probes. We demonstrated that the deletion in our patient is immediately adjacent to the reported Sotos syndrome deletion site. Subtracting the symptoms of Sotos syndrome from the published patients with larger 5q35.3 deletions allowed us to delineate a distinct phenotype of prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia and delay of reaching motor milestones, but speech development within normal limits, wide fontanels, failure to thrive with postnatal short stature, and multiple minor anomalies such as mildly bell-shaped chest, minor congenital heart disease, and a distinct facial gestalt, associated with the novel 3.5 Mb cryptic deletion. We further showed in our patient that the deletion of the LCT(4) synthase gene results in a reduction of cysteinyl leukotriene synthesis to about 65% compared to normal values. The prenatal nuchal lymphedema associated with this deletion syndrome my be related to the deletion of the FLT4 gene causing autosomal dominant primary lymphedema and contributes to the differential diagnosis of increased fetal nuchal translucency.     

Neurological Manifestations of COVID-19 Feature T Cell Exhaustion and Dedifferentiated Monocytes in Cerebrospinal Fluid

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Early risk factors for miscarriage: a prospective cohort study in pregnant women

Many pregnancies are lost during early gestation, but clinicians still lack tools to recognize risk factors for miscarriage. Thus, the identification of risk factors for miscarriage during the first trimester in women with no obvious risk for a pregnancy loss was the aim of this prospective cohort trial. A total of 1098 women between gestation weeks 4 and 12 in whom no apparent signs of a threatened pregnancy could be diagnosed were recruited. Demographic, anamnestic, psychometric and biological data were documented at recruitment and pregnancy outcomes were registered subsequently. Among the cases with sufficiently available data, 809 successfully progressing pregnancies and 55 subsequent miscarriages were reported. In this cohort, risk of miscarriage was significantly increased in women at higher age (>33 years), lower body mass index (< or =20 kg/ m(2)) and lower serum progesterone concentrations (< or =12 ng/ml) prior to the onset of the miscarriage. Women with subsequent miscarriage also perceived higher levels of stress/demands (supported by higher concentrations of corticotrophin-releasing hormone) and revealed reduced concentrations of progesterone-induced blocking factor. These risk factors were even more pronounced in the subcohort of women (n = 335) recruited between gestation weeks 4 and 7. The identification of these risk factors and development of an interaction model of these factors, as introduced in this article, will help clinicians to recognize pregnant women who require extra monitoring and who might benefit from therapeutic interventions such as progestogen supplementation, especially during the first weeks of pregnancy, to prevent a miscarriage.     

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy

Familial amyloid polyneuropathy (FAP) is a progressive systemic autosomal dominant disease caused by pathogenic mutations in the transthyretin (TTR) gene. We studied clinical, electrophysiological, histopathological, and genetic characteristics in 15 (13 late-onset and two early-onset) patients belonging to 14 families with polyneuropathy and mutations in TTR. In comparison, we analysed the features of nine unrelated patients with an idiopathic polyneuropathy, in whom TTR mutations have been excluded. Disease occurrence was familial in 36 % of the patients with TTR-associated polyneuropathy and the late-onset type was observed in 86 % (mean age at onset 65.5 years). Clinically, all late-onset TTR-mutant patients presented with distal weakness, pansensory loss, absence of deep tendon reflexes, and sensorimotor hand involvement. Afferent-ataxic gait was present in 92 % leading to wheelchair dependence in 60 % after a mean duration of 4.6 years. Autonomic involvement was observed in 60 %, and ankle edema in 92 %. The sensorimotor polyneuropathy was from an axonal type in 82 %, demyelinating or mixed type in 9 % each. Compared to the TTR-unmutated idiopathic polyneuropathy patients, we identified rapid progression, early ambulatory loss, and autonomic disturbances, associated with a severe polyneuropathy as red flags for TTR–FAP. In 18 % of the late-onset TTR-FAP patients, no amyloid was found in nerve biopsies. Further diagnostic pitfalls were unspecific electrophysiology, and coincident diabetes mellitus (23 %) or monoclonal gammopathy (7 %). We conclude that a rapid disease course, severely ataxic gait, hand involvement, and autonomic dysfunction are diagnostic hallmarks of late-onset TTR–FAP. Genetic analysis should be performed even when amyloid deposits are lacking or when polyneuropathy-causing comorbidities are concomitant.     

Pre-operative arthritis severity as a predictor for total knee arthroplasty patients’ satisfaction

Purpose

Studies have shown that up to 25 % of TKA patients are dissatisfied with the implanted knee, even if registry data shows ten-year revision rates below 5 %. It has been the question of our study, if it would be possible to identify those patients at risk for dissatisfaction pre-operatively.

Methods

The data of 1,121 consecutive TKA patients with a follow-up between one and six years have been analysed retrospectively. Demographic, radiologic and perioperative variables have been recorded and all patients were asked by questionnaire for satisfaction with the implanted knee. Logistic regression models have been used to identify significant risk factors.

Results

The data of 996 patients (89 %) were complete, 849 (85.2 %) reported satisfaction and 147 (14.8 %) dissatisfaction. Patients’ satisfaction was independent of the time after operation (p = 0.285). The only factor which influenced patients’ satisfaction was the osteoarthritic severity. In comparison to severe arthritis Kellgren Lawrence IV°, the risk for dissatisfaction was 2.556-fold elevated for arthritis grade III° (p < 0.001) and 2.956-fold higher for grade II° (p = 0.001).

Conclusions

Patients suffering from mild or moderate osteoarthritis are at risk for dissatisfaction after TKA. The TKA indication in those patients should therefore be critically proven. Furthermore, to adjust patients’ expectations, the elevated dissatisfaction risk in case of mild or moderate osteoarthritis should be included into patients’ pre-operative information.