Psychogenic movement disorders in children

Psychogenic movement disorders (PMDs) are well characterized in adults, but childhood‐onset PMDs have not been extensively studied. We reviewed the medical records of children who were diagnosed in our clinic with PMDs since 1988 and identified 54 patients with PMDs, representing 3.1% of our pediatric movement disorder population and 5.7% of all PMD cases. The mean age at symptom onset was 14.2 years (±2.11, range 7.6–17.7). Similar to published data in adults, two‐thirds of children exhibited multiple PMD phenotypes, the most common being tremor followed by dystonia and myoclonus. Most PMDs were abrupt in onset, paroxysmal and triggered by identifiable physical or psychological trauma. As in adults, childhood PMDs were more likely to affect females, but there was no female predominance in children less than 13 years old. Although prior studies suggest that medically unexplained symptoms beginning in childhood often follow a benign course, this cohort of children experienced marked disability and morbidity related to PMDs, including prolonged school absences and unnecessary surgical procedures in more than one‐fifth of patients. © 2008 Movement Disorder Society     

Hairy cell leukemia in first cousins and review of the literature

Familial hairy cell leukemia (HCL) occurs rarely. So far, 26 familial instances of HCL (in 12 families) have been reported in the literature. The consistent human leukocyte antigen (HLA) linkage could not be established in most cases of familial HCL. History of exposure to organic chemicals or employment in woodworking or farming was noted in only two out of 11 affected families. We present two familial cases of HCL as well as a thorough literature review. An influence of HLA or farming themselves on a predisposition to HCL remains unproven but does not rule out an HLA-linked and as yet unidentified gene responsible for increased disease susceptibility. HCL in families is unlikely to be due to random patterning, but there are insufficient data so far to decisively incriminate either HLA-related or environmental causative factors.     

Etiology of a short-term mortality in the group of 750 patients with 920 episodes of status epilepticus within a period of 10 years (1988–1997)

PurposeTo determine the etiology of short-term mortality in patients with status epilepticus (SE).Methods920 episodes of SE were recorded among 750 patients in a 10-year period. According to the clinical assessment, sequence of events that led to death in a particular case showed two major causes of death: (1) underlying disease, and (2) complications caused by convulsions, therapy or coma.ResultsAmong 920 episodes of SE, 120 (13%) patients passed away. 79 patients (65.8%) died due to the underlying disease and 27 patients (22.5%) died of the combination caused by complications of underlying disease, convulsions, therapy, and/or coma. Among remaining 14 patients (11.7%), underlying disease was not the cause of death. Those 14 patients suffered complications caused by convulsions, therapy, and coma which caused death in four; therapy and coma in three; therapy in three; coma in two; and convulsions and coma in two patients, in the order already mentioned.ConclusionsAmong approximately 9 out of 10 patients with SE, death was the result of underlying disease. Although with very few patients, additional factors could provoke fatal complications of SE. In case of 1 among 10 patients complications caused by coma, therapy, and/or convulsions were the immediate cause of death. In case of such patients timely and adequate treatment could prevent death.     

Botulinum toxin treatment of cranial-cervical dystonia, spasmodic dysphonia, other focal dystonias and hemifacial spasm.

In the past five years, 477 patients with various focal dystonias and hemifacial spasm received 3,806 injections of botulinum A toxin for relief of involuntary spasms. A definite improvement with a global rating greater than or equal to 2 on a 0-4 scale, was obtained in all 13 patients with spasmodic dysphonia, 94% of 70 patients with blepharospasm, 92% of 13 patients with hemifacial spasm, 90% of 195 patients with cervical dystonia, 77% of 22 patients with hand dystonia, 73% of 45 patients with oromandibular dystonia, and in 90% of 21 patients with other focal dystonia who had adequate follow up. While the average duration of maximum improvement lasted about 11 weeks after an injection (range seven weeks in patients with hand dystonia to 15 weeks in patients with hemifacial spasm), some patients benefited for over a year. Only 16% of the 941 treatment visits with follow up were not successful. Except for transient focal weakness, there were very few complications or systemic effects attributed to the injections. This study supports the conclusion that botulinum toxin injections are a safe and effective therapy for patients with focal dystonia and hemifacial spasm.     

Mitogen-stimulated lymphocyte proliferation and pituitary hormones in major depression

To assess cellular immune status and the hypothalamic-pituitary (HP) axis in patients with major depression, we examined peripheral blood mononuclear cells (PBMC) and measured the plasma levels of cortisol, adrenocorticotropin hormone (ACTH), growth hormone (GH), and prolactin (PRL). Twenty patients with major depression were compared with 20 control subjects matched for age, sex, and race. The dose-response curves for concanavalin-A (Con-A) and phytohemagglutinin (PHA) stimulation were not significantly different between the two groups. The patients had decreased Con-A-stimulated T-lymphocyte proliferation when compared to the control subjects, but only at the lowest suboptimal concentration of Con-A. None of the four concentrations of PHA-stimulated proliferation were different between the two groups, neither was PHA-induced interleukin-2 production. Within the patient group only, plasma prolactin (PRL) correlated significantly with stimulated lymphocyte proliferation using two optimal concentrations of PHA and one optimal concentration of Con-A, when the proliferation was expressed using the stimulation index.     

Environmental study of firefighters.

A study of firefighter exposures was undertaken at the request of the U.S. Fire Administration. This work was part of a larger study which included field evaluation of the performance of the self-contained breathing apparatus (SCBA) worn by firefighters during structural firefighting. Measurements were made for a variety of contaminants including CO, CO2, benzene, HCN, HCl, H2SO4, HF, acrolein, CH4, formaldehyde and PNAs. Many of the analyses were performed by collection of bag samples followed by Fourier transform infrared spectroscopy using a field mobile spectrometer. Measurements were also made using solid sorbent tubes and direct-reading meters. Sampling was done both during the knockdown and during overhaul phases of structural firefighting. Also, in order to estimate exposures including those when the SCBAs were worn, measurements were made both inside and outside the SCBA facepiece. Carbon monoxide was the most common contaminant found during knockdown, and about 10% of the samples were greater than 1500 ppm. Formaldehyde, acrolein, hydrogen chloride, hydrogen cyanide, sulphuric acid and hydrogen fluoride all exceeded their respective short-term exposure limits (STEL) on some occasions. Approximately 50% of the knockdown samples for acrolein exceeded the STEL. During overhaul, when masks were usually not worn, many of the contaminants found during knockdown were detected, but typically at much lower concentrations. Inside-mask sampling data suggest that exposure to low concentrations of a variety of compounds is occurring but this is believed to be principally the result of early mask removal or of non-use during knockdown rather than of leakage. The three basic sampling approaches (bag sampling, sorbent tubes and direct-reading meters) proved in this study to be complementary and served to maximize our ability to detect and quantify a wide range of combustion products.     

Extrapyramidal involvement in Rett's syndrome

Extrapyramidal dysfunction is poorly characterized in Rett's syndrome, a neurodegenerative disorder in girls. We studied the motor and behavioral findings in 32 Rett's syndrome patients, 21 months to 30 years old. In addition to the typical stereotyped movements and scoliosis, other motor disturbances included bruxism, sialorrhea, ocular deviations, parkinsonian findings, dystonia, myoclonus, and athetosis. The types of movement disorders seemed to be age-related, with the hyperkinetic disorders occurring in the younger patients and the bradykinetic disorders occurring more frequently in the older patients.     

Robot-assisted laparoscopic Y-V plasty in 12 patients with refractory bladder neck contracture

We present preliminary results of a case series on refractory bladder neck contracture (BNC) treated with robot-assisted laparoscopic Y-V plasty (RAYV). Between 01/2013 and 02/2016, 12 consecutive adult male patients underwent RAYV in our hospital. BNC developed after transurethral procedures (n = 9), simple prostatectomy (n = 2) and HIFU therapy of the prostate (n = 1). Each patient had had multiple unsuccessful previous endoscopic treatments. All RAYV procedures were performed using a transperitoneal six-port approach (four-arm robotic setting). There were no intraoperative or major postoperative complications. During a median follow-up of 23.2 months two cases of refractory BNC were observed. In both cases a postoperative International Prostate Symptom Score (IPSS) of 20 and 25 was reported, respectively. In contrast, amongst the patients without evidence of refractory BNC the median IPSS was 6.5 reflecting an only mildly impaired voiding function in most cases, thus, suggesting a treatment success in 83.3% of patients. To the best of our knowledge, this is the first report on RAYV for refractory BNC. In our series RAYV was feasible in all patients, and only two cases of refractory BNC were reported during a median follow-up of almost 2 years. At the same time, no intraoperative or major postoperative complications were observed. More clinical data with a longer follow-up are needed in this promising field to reveal the actual efficacy and relevance of RAYV.     

Monitoring of lymphocyte micronuclei among newborns from Kragujevac in Central Serbia before and after environmental contamination

The air strikes on "Zastava" complex in Kragujevac, in the spring of 1999, caused extensive environmental pollution with damage to soil, water and air. Since the main problem was the leakage of several tones of polychlorinated biphenyls (PCBs) as well as heavy metals Cr and Ni into the environment and groundwater, we decided to evaluate influence of the environmental contamination on eventual changes of genetic constitution of human body cells. The subjects analyzed were 36 phenotypically healthy newborn babies, who were born 12 months (n=22) and 18 months (n=14) after environmental contamination, and 25 newborns in 1998 as a control group. For the assessment of mutagenic effects of environmental pollutants in vivo, the cytokinesis-block micronucleus test was employed. The results show significant increase of micronuclei (MN) in lymphocytes from newborns born 12 months after contamination (9.36 +/- 5.60), in comparison to controls (5.53 +/- 3.02) and newborns born 18 months after contamination (6.14 +/- 3.57). Only 3 newborns (12%) out of 25 controls showed more than 1 MN/1000 binucleated cells in respect to 8/22 after 12 months (36%) and 2/14 after 18 months from contamination (14%). The mean number of binucleated cells with MN significantly varied in function of sex and environmental changes in newborns born 12 months after contamination (as demonstrated by the analysis of covariance F=9.61, p <0.003). After 18 months of contamination, environmental components had no noticeable effects on MN frequency (F=0.5, p >0.48). These results suggest that the exposure to environmental pollutants in utero affects genetic constitution of fetus and increases MN values in their body cells, which is detectable right after birth in peripheral blood lymphocytes.