Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report.

BACKGROUND: Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. CASE REPORT: We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures. DISCUSSION: Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.

Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients.

BACKGROUND: Neuroophthalmological phenotypical particularities of SCA3. PHENOMENOLOGY: Eyelid opening apraxia and asymmetrical blepharospasm. EDUCATIONAL VALUE: To illustrate the phenomenology for purposes of education.

Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke.

Adenosine kinase (ADK) deficiency is a very rare inborn error of methionine and adenosine metabolism. It is characterized by developmental delay, hypotonia, epilepsy, facial dysmorphism, failure to thrive, transient liver dysfunction with cholestasis, recurrent hypoglycemia, and cardiac defects. Only 26 cases (16 families) of ADK deficiency have been published since its identification in 2011. Vascular abnormalities in cervical arteries and cerebral stroke have never been reported in this condition. Here, we describe two patients with ADK deficiency and vascular tortuosity leading to stroke in one of them. ADK deficiency is a rare inborn error of methionine metabolism with a complex phenotype that might be associated with cerebrovascular abnormalities and stroke.

Genomic damage in Mugil curema (Actinopterygii: Mugilidae) reveals the effects of intense urbanization on estuaries in northeastern Brazil.

The largest metropolitan centers in northeastern region of Brazil are all located near the coast, and industrial, tourist, and agro-industrial activities are the principal causes of water contamination due to discharges of untreated sewage. Adverse environmental conditions can often be detected by analyzing the genetic material of organisms exposed to pollutants, and furnish an overview of environmental quality. We evaluated possible damage to the DNA of one of the fish resources most widely consumed and commercialized by coastal communities in northeastern Brazil, Mugil curema ("tainha"). Erythrocytes from M. curema were analyzed by the presence of micronuclei and by comet assay (single cell gel electrophoresis, SCGE). Statistical comparisons to both tests revealed considerably greater genomic damage in polluted estuaries than in the control site (p < 0.05), suggesting strong genotoxic impacts on the specimens evaluated, principally among those taken near localities with dense demographic and industrial development.

Concussion history is not a predictor of computerised neurocognitive performance.

BACKGROUND: The long term effects of self reported concussion on neurocognitive functioning have been found to be variable. OBJECTIVES: To evaluate cognitive performance on the Headminder concussion resolution index (CRI) and ImPACT assessment tests of subjects with and without a history of self reported concussion. METHODS: A retrospective analysis was completed on 235 Headminder CRI baseline assessments and 264 ImPACT baseline assessments. Participants were divided into four groups on the basis of reported number of concussions (zero, one, two, or three). Multivariate analysis of variance was used to evaluate differences between the concussion history groups on the two computer based concussion assessment programs. RESULTS: Multivariate analysis of variance indicated no significant difference between those with and without a history of concussion on the CRI (Lambda = 0.963, F((15, 627.05)) = 0.57, p = 0.898). It also revealed no significant differences between groups on the ImPACT test (Lambda = 0.951, F((12, 672.31)) = 1.07, p = 0.381). CONCLUSIONS: The results suggest that either long term cognitive decrements may not be associated with a history of concussion or the decrements may be subtle and undetectable by these computer programs.

Physical Symptoms Distress Index: a sensitive tool to evaluate the impact of pharmacological agents on quality of life.

OBJECTIVES: To examine whether the degree of stress associated with adverse physical side effects correlates with overall quality of life (QOL) and compliance rates. To determine if instruments used to assess QOL can detect differences between treatments that have no known central nervous system effects. PATIENTS AND METHODS: This randomized, double-blind, parallel group study evaluated 180 to 480 mg of controlled onset, extended release (COER)-verapamil (n = 259) or 30 to 120 mg/d of nifedipine gastrointestinal therapeutic system (GITS) (n = 269) in men and women between 21 and 80 years of age with stages 1 to 3 hypertension. A battery of questions evaluating psychological well-being and a physical symptom distress index was administered after a 4-week placebo washout (baseline) and after 10 weeks of treatment or at dropout. RESULTS: Both treatments effectively lowered blood pressure, and there were no significant between-group differences in psychosocial QOL. A difference in the level of physical symptom distress was detected between treatments (P = .002; multivariate analysis of variance), with 7 significant univariate treatment effects, all favoring COER-verapamil, being noted-pedal edema, polyuria, rapid heart beat or palpitations, hives, muscle cramps, abdominal cramps, and headaches. Constipation-related distress increased significantly (P = .001) but to a similar extent with both treatments. The difference in symptom distress tended to predict compliance as there were more withdrawals in the nifedipine GITS group (n = 85) vs COER-verapamil group (n = 64) (P = .08). CONCLUSIONS: Patient-assessed physical symptom distress is a sensitive, simple technique to evaluate the effect of antihypertensive medications on QOL and tolerability, as shown by its ability to detect the improvement associated with COER-verapamil. Depending on the agents involved, the Physical Symptom Distress Index may more closely predict dropout rates than the traditional psychosocial instruments, as suggested by the lower dropout rate in the COER-verapamil group. Thus, in studying treatment effects on QOL, both the distress of physical symptoms and the impact of psychosocial factors should be evaluated.

Psychosocial crisis in diabetic renal failure.

Twenty-nine diabetic renal failure patients suffered a psychosocial crisis at the time when chronic dialysis or renal transplantation was required. These patients could be classified into groups as to the impact of the crisis in terms of participation in life-support therapy. Group 1 consisted of potentially lethal mechanism (9 patients): discontinued dialysis (5); refused to start dialysis (3); overt act to cause personal harm (1). Group 2 contained probably nonlethal mechanism (11 patients): threatened to discontinue dialysis or to never start dialysis if not given a chance for a transplant (5); threatened to discontinue dialysis or to never start dialysis (5); threatened to cause personal harm (1). Group 3 consisted of a combination of mechanisms (9 patients): with drug abuse (4); without drug abuse (5). Important similarities between the groups were easier to document than were subtle differences in the kinds of options in family and employment relationships; in the degree of objective and subjective handicap due to impaired vision; in the level of expectation and/or disappointment following renal transplantation; and in the capacity to cope with changing personal relationships produced by the complications of diabetes.

Assessment of quality of life by patient and spouse during antihypertensive therapy with atenolol and nifedipine gastrointestinal therapeutic system.

To evaluate differences in efficacy, safety, and quality of life, 394 male patients with mild-to-moderate hypertension were randomized to receive 20 weeks of either atenolol or nifedipine gastrointestinal therapeutic system (GITS) in a multicenter double-blind trial. A four-week placebo washout was followed by 8 weeks of titration and 12 weeks of maintenance therapy. Quality-of-life evaluation included clinical assessments by the patient and parallel take-home assessments by patient and spouse. Blood pressure was controlled equally in both groups. The total incidence of adverse reactions was similar in both groups, but a greater percentage of nifedipine GITS patients withdrew due to peripheral edema. Patients completing 20 weeks of therapy demonstrated a more favorable quality-of-life profile (P less than .05) for nifedipine GITS over atenolol in psychosocial (P less than .01), well-being (P less than .05), general affect (P less than .05), emotional ties (P less than .01), emotional control (P less than .05), vitality (P less than .05), and leisure (P less than .05) scores. Treatment differences were particularly pronounced for patients over 50 years of age and were not fully detectable until after 14 weeks of therapy. Deterioration in quality of life was associated with withdrawal. Spouses of younger patients receiving atenolol reported deterioration in sexual satisfaction as compared to spouses of patients taking nifedipine GITS (P less than .02). Thus age, length of trial, and third-party observation are important factors in quality-of-life assessment. Comparison of adverse reactions provides an incomplete measure of how well a drug is tolerated. In contrast, findings indicate that even subtle CNS-mediated effects on mood and well-being can be detected by quality-of-life evaluation.

Role of acetylcholinesterase in the development of axon tracts within the embryonic vertebrate brain.

In the developing vertebrate brain, acetylcholinesterase (AChE) expression coincides temporally with axon tract formation. Although AChE promotes neurite outgrowth in vitro, the role of this molecule in the development of axon tracts in vivo is unknown. To address this question, we examined the effects of the AChE inhibitor, BW284C51, on the formation of the early scaffold of axon tracts in the embryonic Xenopus brain. In exposed Xenopus brain preparations, axons elongate and establish a normal topography of axon tracts. However, when brains were exposed to BW284C51, the thickness of the major longitudinal axon tract, the tract of the post-optic commissure decreased in a dose-dependent manner. When BW284C51 was removed from the culture media axon tract development returned to normal within 5 h. These findings provide the first evidence for a non-classical role of AChE in the initial formation of axon tracts within the developing vertebrate brain.

A review of the quality-of-life aspects of urinary urge incontinence.

Urinary incontinence (UI) is prevalent and costly, occurring in 15 to 30% of the US population over the age of 60 years. Among people aged 15 to 64 years, UI occurs in 1.5 to 5% of men and 10 to 25% of women. Severe incontinence occurs in 6% of the general US population, and it is estimated that $US10 billion per year is spent in direct costs alone on care for these patients. This review presents a description of the various types of UI and describes the prevalence and costs of the condition. In addition, 3 approaches to assessing the impact of UI on quality of life are discussed, namely generic measures, disease-specific measures and qualitative approaches. We also review papers on UI and sexual functioning, UI in men, and some aspects of treatment. The review was conducted in the process of developing a new disease-specific measure for urinary urge incontinence (UUI). In general, the literature suggests that UUI has a greater impact than stress incontinence on quality of life, and that UI affects social and psychological functioning more than physical functioning. Only in a minority of individuals is the impact of UI disabling; however, most individuals with UI show significant reduction in their social functioning. Several studies suggest that the impact of UI is not solely a function of its severity, but also depends on individual coping abilities. Some studies also indicate that the social problems associated with UI grow with time, but it is not clear if that is a function of increasing severity of the condition, or the particular adaptations required for coping with this problem. An important distinction appears to be the ability of individuals to avoid public notice of their condition because of uncontrolled accidents. In summary, there is a need for a new measure of the quality-of-life impact of UUI that is based on the literature and on in-depth interviews with patients.

Guidance cues involved in the development of the peripheral autonomic nervous system.

All peripheral autonomic neurons arise from neural crest cells that migrate away from the neural tube and navigate to the location where ganglia will form. After differentiating into neurons, their axons then navigate to a variety of targets. During the development of the enteric nervous system, GDNF appears to play a role in inducing vagal neural crest cells to enter the gut, in retaining neural crest cells within the gut and in promoting the migration of neural crest cells along the gut. Sema3A regulates the entry of extrinsic axons into the distal hindgut, netrin-DCC signaling is responsible for the centripetal migration of cells to form the submucosal ganglia within the gut, Slit-Robo signaling prevents trunk level neural crest cells from entering the gut, and neurturin plays a role in the innervation of the circular muscle layer. During the development of the sympathetic nervous system, the migration of trunk neural crest cells through the somites is influenced by ephrin-Bs, Sema3A and F-spondin. The migration of neural crest cells ventrally beyond the somites requires neuregulin signaling and the clumping of cells into columns adjacent to the dorsal aorta is regulated by Sema3A. The rostral migration of cells to form the superior cervical ganglion (SCG) and the extension of axons along blood vessels involves artemin signaling through Ret and GFRalpha3, and the entry of sympathetic axons into target tissues involves neurotrophins and GDNF. Relatively little is known about the development of parasympathetic ganglia, but GDNF appears to play a role in the migration of some cranial ganglion precursors to their correct location, and both GDNF and neurturin are involved in the growth of parasympathetic axons into particular targets.

Inhibitory consequences of memory selection.

When subjects select a prime from a visual display while leaving a distractor prime unselected, response time (RT) or response accuracy to a subsequent probe may be impeded if the distractor prime and probe are identical, or if they are related to one another. This phenomenon, negative priming (NP), has obvious implications for understanding perceptual selection. However, it is not known whether NP results from other kinds of selection processes. The present studies were designed to investigate whether NP occurs when primes are selected from working memory rather than from a visual display. In the two experiments, the subjects memorized two primes, selected one prime for further processing, and classified the contents of a probe display. Significant NP occurred in both Experiments. In Experiment 2, however, NP occurred only under easy-selection conditions; the effect was reversed under difficult-selection conditions. The findings indicate a role for NP in memory processing, but contrast with the results from perceptual selection studies showing greater NP under difficult-selection than under easy-selection conditions. The present finding suggests a complex and perhaps strategy-dependent relationship between memory selection difficulty and NP.

Sesamoid foot problems in the athlete.

Problems of the sesamoid bones of the metatarsophalangeal joint of the great toe are critical in maintaining full ability to compete or to engage in recreation--in athletes of any age. The sesamoids are subject to the same post-traumatic, acute, and chronic changes as any other bone. These unique and deceptively important injuries demand a high index of suspicion, a thorough diagnostic effort, and a guided long-range treatment program, including follow-up to normalized athletics, particularly in the running-based sports.

Autogenous bone grafting of hallux sesamoid nonunions.

We first performed autogenous bone grafting for lesions of the hallux sesamoid in 1984. During the next 9 years, 21 patients (11 men and 10 women with an average age of 34 and 32 years, respectively) underwent this surgical procedure for symptomatic tibial hallux sesamoid non-unions. Successful bony union was achieved in all but two patients. The majority of patients obtained concomitant relief of preoperative symptomatology and returned to their preinjury level of activity. We believe that this procedure serves as an alternative to hallux sesamoid excision in selected cases.

Comparison of results of retrocalcaneal decompression for retrocalcaneal bursitis and insertional achilles tendinosis with calcific spur.

Sixteen feet with retrocalcaneal bursitis (RB) and twenty-two feet with calcific Achilles insertional tendinosis (IAT-CS) underwent retrocalcaneal decompression after failure of nonoperative treatment. Follow-up evaluation at least two years after surgery included AOFAS Ankle-Hindfoot subscale scores, satisfaction, time until maximum symptomatic improvement, and radiographs. Statistically significant differences between the groups include the following: IAT-CS patients were older, required nearly twice the time to reach maximum symptomatic improvement, had lower satisfaction rates, had a lower pain score, and more frequently had shoewear restrictions. Radiographic recurrence did not correlate with outcome or symptomatic recurrence.

Distal soft tissue release using direct and indirect approaches: an anatomic study.

Two surgical approaches for distal soft tissue release in the correction of hallux valgus, one using a dorsal first web space incision and the other a longitudinal medial capsulotomy incision (used also for medial eminence resection), were studied to compare and delineate the structures actually incised. Anatomic dissections were performed on six fresh-frozen amputation specimens using each of the approaches. The adequacy of release of the adductor hallucis, transverse and oblique heads, first metatarsophalangeal lateral capsule, and suspensory ligament was reviewed. Any inadvertent damage to the first metatarsal head cartilage, second metatarsophalangeal capsule, and lateral head of the flexor hallucis brevis tendon was also noted. Distal soft tissue release is thought to be an important part of hallux valgus surgery. Based on our anatomic dissections, the actual extent of the release may be inconsistent and unpredictable, and may have implications for the predictability of results after hallux valgus surgery.

Success of calcaneonavicular coalition resection in the adult population.

Twelve adult patients (13 feet), average age 33 years (range, 19-48 years), with calcaneonavicular coalitions remained symptomatic after a trial of conservative treatment. Surgical resections were performed. Before surgery, there was < 5 degrees of inversion/eversion in 11 patients, radiographic evidence of degenerative arthritis in 10 feet (77%), and talar beaking in 7 feet. At an average postoperative follow-up of 36 months, subjective relief of preoperative symptoms was achieved in all but two patients. Two patients required subsequent hindfoot arthrodesis. Resection of calcaneonavicular coalition in the adult can be successful and provides an option to arthrodesis after nonoperative methods have failed.

Intermediate to long-term follow-up of medial-approach dorsal cheilectomy for hallux rigidus.

Dorsal cheilectomy of the hallux metatarsophalangeal (MTP) joint through a medial approach can effectively provide long-term relief of pain and improve function in symptomatic mild-to-moderate hallux rigidus, despite progression of generalized first MTP joint arthritic degeneration and/or loss of motion. Fifty-seven patients (75 feet) with arthritis of the first MTP joint underwent dorsal cheilectomy through a medial approach for hallux rigidus failing nonoperative management. Excision of the dorsal articular surface of the first metatarsal head and dorsal osteophytes was performed through a medial approach that also allowed for plantar capsular release and removal of lateral osteophytes. Minimum follow-up was 3 years (average, 63 months; range, 37-92 months). Fifty-two patients (68 feet) returned for clinical and radiographic evaluation. American Orthopaedic Foot and Ankle Society Hallux Rating scores improved from a preoperative average of 45 to 85 points at follow-up. Average dorsiflexion improved from 19 degrees to 39 degrees, and the average range of motion improved from 34 degrees to 64 degrees. Preoperative radiographic grade of arthritic degeneration was grade I in 17 feet, grade II in 39 feet, and grade III in 12 feet; at follow-up, the radiographic grade was grade I in 2 feet, grade II in 26 feet, and grade III in 40 feet. Thirty-two feet worsened one grade, 6 feet worsened two grades, and 28 feet demonstrated no change (12 of 28 were grade III, preoperatively). A dorsal spur recurred in 21 feet, 9 of which were symptomatic. Complications included two superficial wound infections and four transient paresthesias of the hallux, all of which resolved uneventfully.

Dorsiflexion metatarsal osteotomy for treatment of recalcitrant diabetic neuropathic ulcers.

Twenty diabetic patients underwent 22 dorsiflexion metatarsal osteotomies for treatment of chronic persistent or recurrent neuropathic forefoot ulcers. Mean duration of nonoperative treatment was 13 months. The procedure consisted of irrigation and debridement of the ulcer followed by basilar closing wedge metatarsal osteotomy performed through a dorsal approach. At follow-up, complete ulcer healing was noted in 21 cases (95%) at an average of 40 days postoperatively. Complications occurred in 15 cases (68%). The main problems encountered postoperatively were acute Charcot disease (32%) and deep wound infections (14%). Transfer lesions under adjacent metatarsal heads developed in two cases (9%). One ulcer (5%) failed to heal secondary to vascular insufficiency and eventually required a below the knee amputation after a failed revascularization attempt. Loss of screw fixation occurred in one patient (5%) but acceptable metatarsal alignment was maintained and the ulcer healed uneventfully. There were no cases of ulcer recurrence. The results of this study suggest that dorsiflexion metatarsal osteotomy is a reliable salvage procedure for the treatment of recalcitrant neuropathic forefoot ulcers that have failed an adequate trial of nonoperative treatment. This procedure is associated with a high complication rate, as would be expected in this patient population.

Prospective, randomized comparison of proximal crescentic and proximal chevron osteotomies for correction of hallux valgus deformity.

In this study, intermetatarsal angle (IMA) correction, functional outcome, and healing time for the proximal crescentic and proximal chevron osteotomies in moderate to severe hallux valgus deformity were prospectively compared. Seventy-five patients (97 feet) were prospectively randomized to either a proximal crescentic or proximal chevron osteotomy for the correction of moderate to severe hallux valgus deformity with associated metatarsus primus varus. Criteria for study entry included age (adult patients), IMA greater than or equal to 13 degrees, persistent symptoms despite nonoperative treatment, and minimum follow-up of 12 months. Twenty-nine patients (41 feet) in the crescentic group and 37 patients (43 feet) in the chevron group returned for follow-up at an average of 24 and 20 months, respectively. Good results were achieved with both procedures. No statistically significant differences were found with respect to correction of the IMA or to functional outcome between the two groups. Results held true irrespective of patient age, severity of disease, or bilateral involvement. A statistically significant shorter healing time of the first metatarsal was found after proximal chevron osteotomy. Other potential benefits of the chevron procedure included avoidance of dorsiflexion of the first metatarsal, tendency toward less shortening of the first metatarsal, and more medial distribution of tibial sesamoids following surgery, all of which may reduce the potential for development or persistence of transfer lesions.