Principal Abnormalities Research Articles

We Move or Are We Moved? Unpicking the Origins of Voluntary Movements to Better Understand Semivoluntary Movements.

The capacity for voluntary control is seen as essential to human movements; the sense that one intended to move (willing) and those actions were self-generated (self-agency) gives the sense of voluntariness and of being in control. While the mechanisms underlying voluntary movement have long been unclear, recent neuroscientific tools have identified networks of different brain areas, namely, the prefrontal cortex, supplementary motor area, and parietal cortex, that underlie voluntary action. Dysfunction in these brain areas can result in different forms of semivoluntary movement as the borderland of voluntary and involuntary movement where a person may experience a disordered sense of will or agency, and thus the movement is experienced as unexpected and involuntary, for an otherwise voluntary-appearing movement. Tics, functional movement disorders, stereotypies, perseveration, compulsions, utilization behaviors, and motor mannerism have been described elsewhere in the context of psychoses, and are often mistaken for each other. Yet, they reflect an impairment of prefrontal cortices and related circuits rather than simple motor systems, which results in the absence of subjective recognition of the movements, in contrast to other neurological movement disorders where principal abnormalities are located within the basal ganglia and its connections. Therefore, their recognition is clinically important since they are usually associated with neurodevelopmental and neurodegenerative disorders. In this review, we first defined a conceptual framework, from both a neuroanatomical and a neurophysiological point of view, for the generation of voluntary movement. We then examined the evidence linking dysfunctions in different motor pathways to each type of movement disorder. We looked at common semivoluntary movement disorders providing an overview, where possible, of their phenomenology and brain network abnormalities for each condition. We also emphasized important clinical feature similarities and differences to increase recognition of each condition in practice.

Clinical, laboratory and ultrasonographic findings in 87 cows with type-4 abomasal ulcer

BackgroundThis study evaluated the clinical, laboratory, ultrasonographic and pathological findings in 87 cows aged 2 to 10 years (4.5 ± 1.5 years) with type-4 abomasal ulcer.ResultsThe most common clinical findings were in decreasing order compromised health status accompanied by partial or complete anorexia (100%), abdominal guarding (81%), congested scleral vessels (77%), ruminal atony (73%), tachycardia (68%), tachypnoea (65%), positive foreign body tests (58%), decreased skin surface temperature (53%), fever (49%), reduction in negative intraabdominal pressure assessed transrectally (39%), poorly subdivided plant fragments in faeces (35%) and arched back (28%). The principal haematological abnormalities were hypokalaemia (72%), haemoconcentration (69%), azotaemia (56%), metabolic acidosis (49%), hyperfibrinogenaemia (45%), leukopenia (35%) and hypoproteinaemia (29%). Other abnormalities were aciduria (56%), haematuria (44%), increased chloride concentration in rumen fluid (34%) and abnormal peritoneal fluid (98%). Of 75 examined cows, 65 (87%) had ultrasonographic evidence of local or generalised peritonitis. On postmortem examination all cows had a type-4 abomasal ulcer and generalised peritonitis. In addition, 36 cows had type-1 ulcers, 6 had type-2 ulcers and one cow had a type-3 ulcer.DiscussionThe clinical signs in cows with type-4 abomasal ulcer are associated with generalised peritonitis. An increased haematocrit, indicating shock-induced haemoconcentration is characteristic in contrast to cows with traumatic reticuloperitonitis. Ultrasonography is useful for visualising and assessing generalised peritonitis.ConclusionsThe diagnosis of type-4 abomasal ulcer based on clinical signs alone is difficult and therefore requires additional diagnostic procedures including the determination of the haematocrit and plasma protein concentration, abdominal ultrasonography and analysis of peritoneal fluid. In most cases, these steps lead to a correct diagnosis and allow timely euthanasia of the cow to prevent further suffering and unnecessary treatment costs.MethodsThe cows underwent a clinical, laboratory, ultrasonographic and postmortem examination.

Treatment of the nasal abnormalities of Hallermann–Streiff syndrome by lipofilling

Hallermann–Streiff syndrome (HSS) is a rare congenital abnormality affecting mostly the head and face area. Craniofacial deformities, which are present in 98–99% of cases, are the principal abnormalities detected. We focus here on a particular subset of these deformities: atrophy of the skin of the centre of the face and nose. Two patients diagnosed with HSS were treated in our department. Both patients underwent nasal lipofilling to treat the atrophy of the nasal skin, as described by Nguyen et al. In both cases, a satisfactory improvement in nasal skin colour and texture was observed. A functional gain was also reported by the parents and observed during follow-up consultations. Lipofilling thus appears to be an excellent option for treating craniofacial deformities in children.

Age-Dependent Salt Hypertension in Dahl Rats: Fifty Years of Research

Fifty years ago, Lewis K. Dahl has presented a new model of salt hypertension - salt-sensitive and salt-resistant Dahl rats. Twenty years later, John P. Rapp has published the first and so far the only comprehensive review on this rat model covering numerous aspects of pathophysiology and genetics of salt hypertension. When we summarized 25 years of our own research on Dahl/Rapp rats, we have realized the need to outline principal abnormalities of this model, to show their interactions at different levels of the organism and to highlight the ontogenetic aspects of salt hypertension development. Our attention was focused on some cellular aspects (cell membrane function, ion transport, cell calcium handling), intra- and extrarenal factors affecting renal function and/or renal injury, local and systemic effects of renin-angiotensin-aldosterone system, endothelial and smooth muscle changes responsible for abnormal vascular contraction or relaxation, altered balance between various vasoconstrictor and vasodilator systems in blood pressure maintenance as well as on the central nervous and peripheral mechanisms involved in the regulation of circulatory homeostasis. We also searched for the age-dependent impact of environmental and pharmacological interventions, which modify the development of high blood pressure and/or organ damage, if they influence the salt-sensitive organism in particular critical periods of development (developmental windows). Thus, severe self-sustaining salt hypertension in young Dahl rats is characterized by pronounced dysbalance between augmented sympathetic hyperactivity and relative nitric oxide deficiency, attenuated baroreflex as well as by a major increase of residual blood pressure indicating profound remodeling of resistance vessels. Salt hypertension development in young but not in adult Dahl rats can be attenuated by preventive increase of potassium or calcium intake. On the contrary, moderate salt hypertension in adult Dahl rats is attenuated by superoxide scavenging or endothelin-A receptor blockade which do not affect salt hypertension development in young animals.

Neuropathological investigation of dementia: a guide for neurologists

Dementia is among the most common and disabling of diseases and places a huge burden on carers and families as well as on social and medical services. Its prevalence rises...

Retinoid X Receptor Heterodimers in the Metabolic Syndrome

The principal abnormalities of the metabolic syndrome are abdominal obesity, atherogenic dyslipidemia, hypertension, insulin resistance, inflammation, and prothrombotic states. This review focuses ...

Lethargy, Failure to Thrive, and Vomiting in a Neonate

Questions: 1. What are this patient’s most striking clinical and laboratory findings? 2. How do you explain this patient’s most striking clinical and laboratory findings? 3. What additional test(s) should be performed on this infant and why? 4. What is this patient’s most likely diagnosis? 5. How is this patient’s disorder “definitively” diagnosed? 6. What are the principal developmental abnormalities and other illnesses in an untreated individual affected with this patient’s disorder? 7. How should this patient be treated?

Enteric nervous system: development and developmental disturbances--part 1.

This review, which is presented in two parts, summarizes and synthesizes current views on the genetic, molecular, and cell biological underpinnings of the early embryonic phases of enteric nervous system (ENS) formation and its defects. In the first part, we describe the critical features of two principal abnormalities of ENS development: Hirschsprung's disease (HSCR) and intestinal neuronal dysplasia type B (INDB) in humans, and the similar abnormalities in animals. These represent the extremes of the diagnostic spectrum: HSCR has agreed and unequivocal diagnostic criteria, whereas the diagnosis and even existence of INDB as a clinical entity is highly controversial. The difficulties in diagnosis and treatment of both these conditions are discussed. We then review the genes now known which, when mutated or deleted, may cause defects of ENS development. Many of these genetic abnormalities in animal models give a phenotype similar or identical to HSCR, and were discovered by studies of humans and of mouse mutants with similar defects. The most important of these genes are those coding for molecules in the GDNF intercellular signaling system, and those coding for molecules in the ET-3 signaling system. However, a range of other genes for different signaling systems and for transcription factors also disturb ENS formation when they are deleted or mutated. In addition, a large proportion of HSCR cases have not been ascribed to the currently known genes, suggesting that additional genes for ENS development await discovery.

Clinical and epidemiological findings during ram examination in 47 flocks in southern Greece

In a field investigation of 47 flocks in south Greece, a clinical examination for fertility evaluation was done on 293 rams. In each ram, a general-health examination, examination of the genital organs and libido evaluation were carried out. In 143 (49%) of the 293 rams examined, at least one abnormality was recorded. The median within-flock prevalence risk (PR) of at least one abnormality was 58.0%, that of general-health abnormalities was 33%, that of genital abnormalities was 20% and that of libido abnormalities 14%. The principal abnormalities observed during the general-health examination were interdigital dermatitis, injuries of the sole, blowfly myiasis and brisket sores. The principal abnormalities observed during the examination of the genitalia were testicular hypoplasia, nodules into the testicular parenchyma, ulcerative lesions characteristic of orf in the prepuce and blowfly myiasis on the preputial orifice. The principal abnormalities observed during the evaluation of libido were incomplete erection and inability to mount the ewe. A statistically significant ( P<0.05) positive association was recorded between: ram : ewe ratio and general-health abnormalities PR; general-health abnormalities PR and at least one abnormality PR; genital abnormalities PR and libido abnormalities PR; genital abnormalities PR and at least one abnormality PR; lambing percentage and total lambs born per ewe. A statistically significant ( P<0.05) negative association was recorded between: ram age and general-health abnormalities PR; ram age and any abnormality PR; general-health abnormalities PR and lambing percentage.

Does Rotation Alone Determine Whether an A‐Type Star’s Spectrum Is Abnormal or Normal?

The principal abnormalities among A-type stars are the metallic-line (Am) and peculiar A (Ap) stars. In these, diffusion (Michaud 1980) occurring in stars rotating at less than about 120km 8 -1 allows certain elements to sink and others to rise into the atmosphere. Observationally, all Am and Ap stars are observed to have rotational velocities less than that limit and most of the normal stars have higher rotational velocities. But a large study (Abt&Morrell 1995) showed that 15-20% of the normal stars had lower rotational velocities. Could it be that rotation alone does not determine whether a slow rotator has an abnormal or normal spectrum?

Effects of morphine on the electroencephalograms of neonates: a prospective, observational study

Objectives: Although opiates have been reported to profoundly alter the EEG and cause seizures in full-term and premature newborn babies, no prospective study has systematically studied the effects of morphine on the EEG of normal neonates. Methods: A prospective observational study was conducted on 20 neurologically and metabolically normal newborn babies of ≥26 weeks post-conceptional age, with EEG recordings performed while on and off morphine infusions. Results: The recordings performed while the babies were on morphine were all abnormal; the principal abnormalities consisted of prolonged periods of electrical quiescence (PPEQs) and excessive interictal epileptiform activity. After the morphine was discontinued, the PPEQs resolved and the EEG background rhythms were normal for age, but 5 continued to have excessive sharp transients. All babies did well clinically and did not require anti-epileptic drug therapy. Conclusions: Morphine produces a profound, largely reversible alteration of all neonatal EEGs at various post-conceptional ages. The study has implications for caution in formulating conclusions regarding the clinical significance of EEGs of critically ill neonates on morphine infusions.

Surveillance protocol for the detection of intracranial abnormalities in premature neonates.

To determine the optimal timing of cranial ultrasound scans (USs) for identifying preterm neonates weighing less than 1500 g at birth who develop intracranial complications of prematurity. Observational study at an urban county hospital. Serial USs from neonates with less than 1500-g birth weight (BW) admitted to the neonatal intensive care unit between January 1995 and December 1996 were reviewed by a pediatric neuroradiologist in a blinded random manner. Two hundred forty-eight neonates (78%) underwent at least 3 USs, 32 (10%) had 2 USs and 37 (12%) only 1 US. The initial US was normal in 156 neonates (49%) and abnormal in 161 (57%). The principal abnormalities included intraventricular hemorrhage (IVH) (n = 74), periventricular echogenicity (PVE) (n = 68), ventriculomegaly (n = 7), and solitary cysts (n = 9). Severe IVH (n = 17) occurred in 13 (11.4%) of 114 neonates at less than 1000-g BW and 4 (5%) of 79 neonates of BW 1000 to 1250 g. In 11 cases (65%), the severe IVH was clinically unsuspected. For neonates weighing less than 1000 g, IVH was diagnosed by days 3 to 5 in 10 (77%) of 13, by days 10 to 14 in 11 (84%) of 13, and by day 28 in all neonates; for neonates 1001 to 1250 g, IVH was diagnosed in 1 (24%) of 4 by days 3 to 5, 2 (50%) of 4 by days 10 to 14, and 3 (75%) of 4 by day 28. One infant's condition was diagnosed on routine US before discharge from the hospital. Cystic periventricular leukomalacia (PVL) was noted in 9 neonates; in 4 of the 9 cases, increased PVE was present on the initial US and cyst formation was obvious by the second US. For 4 neonates (3 with BW <1000 g), all routine USs were negative and cystic PVL was noted on the predischarge US in these cases. Nonobstructive ventriculomegaly in the absence of IVH or cystic PVL was observed in 14 neonates. In 6, it was noted on the initial screening US; in 4 of the cases, it evolved after the third screening US. Two hundred fifty-six neonates had a US before discharge from the hospital; 181 (72%) were normal and 75 (28%) abnormal. Nine significant lesions were identified by the US before discharge from the hospital (ie, severe IVH [n = 1], cystic PVL [n = 4], and ventriculomegaly [n = 4]). The following screening protocol is recommended: (1) Neonates of less than 1000-g BW: initial US on days 3 to 5 (should identify at least 75% of cases of IVH and some PVE abnormalities); second US on days 10 to 14 (should detect at least 84% of IVH and identify early hydrocephalus and early cyst formation); third scan on day 28 (should detect all cases of IVH, as well as assess PVE and ventricular size); and final scan before discharge from the hospital (should detect approximately 20% of significant late-onset lesions). (2) Neonates of 1000- to 1250-g BW: initial US at days 3 to 5 (should detect at least 40% of significant abnormalities); a second scan at day 28 (should detect at least 70% of significant abnormalities); and a predischarge scan (should detect all late-onset significant lesions). (3) Neonates of 1251- to 1500-g BW: an initial scan at days 3 to 5; and a second scan before discharge from the hospital if the clinical course is complicated. Arch Pediatr Adolesc Med. 2000;154:822-826

Guamanian neurodegenerative disease: are diabetes mellitus and altered humoral immunity clues to pathogenesis?

On the western Pacific island of Guam, parkinsonism, dementia, and amyotrophic lateral sclerosis are highly prevalent but the cause is not known. To assess the possibility that the pathologic process extends beyond the nervous system, we studied patients with Guamanian neurodegenerative disease (N = 16) and Guamanian Chamorro control subjects (N = 16) in the Clinical Research Center of the Mayo Clinic, Rochester, MN. The principal abnormalities found in those with neurodegenerative disease included diabetes mellitus in 44%, elevated levels of serum immunoglobulin A (IgA) in 50%, and elevated IgG in 44%. The mean serum IgM level in the patient group was significantly lower than in the control group. Diabetes mellitus and elevated IgA and IgG levels were also present in 31% of neurologically normal Guamanian subjects. Some of these control subjects, however, probably have preclinical neurodegenerative disease, as found in previously published postmortem studies. Extensive serologic testing did not reveal any consistent profile of autoimmunity. Other blood and urine studies failed to identify hematologic, nutritional, renal, hepatic, or metabolic abnormalities that distinguished patients. Whether diabetes mellitus or abnormalities of immune regulation share common etiopathology with Guamanian neurodegenerative disease deserves further study.

Formulary Management of Drugs for Cancer-Associated Hypercalcaemia

Hypercalcaemia associated with cancer is seen not infrequently in hospital practice and can be a source of considerable morbidity. Over the past decade, our understanding of the pathogenesis of this syndrome has advanced, allowing improved treatment protocols. Because one of the principal abnormalities relates to an increase in bone resorption, antiresorptive agents such as calcitonin and the bisphosphonates have been shown to be of value. In the medium to longer term, the bisphosphonates -particularly pamidronic acid[pamidronate;aminohydroxypropylidene bisphosphonate (APD)] and clodronic acid [clodronate; dichloromethyl bisphosphonate (Cl2MDP)]¿ appear to be more efficacious in terms of their calcium-lowering effect than calcitonin, and also appear to be associated with fewer adverse effects than most other agents. However, the importance of energetic re-expansion of the extracellular space with 0.9% sodium chloride before bisphosphonate therapy is extremely important. Cancer-associated hypercalcaemia, especially with squamous cancer, is often associated with the production of parathyroid hormone-related protein (PTHrP). Where this is the case, it usually reflects the presence of more advanced disease with shortened life expectancy, and poorer response to calcium-lowering therapy. Multiple treatments with larger doses of bisphosphonate may be required for these patients.

The effect of EHV-1 infection upon circulating leucocyte populations in the natural equine host

It has been suggested that EHV-1 infection may perturb immune responsiveness in the natural equine host. The mechanism underlying this phenomenon is not clear, but disturbances of circulating leucocyte populations could contribute. In order to objectively assess the nature of the haematological changes provoked by EHV-1 infection, two groups of conventionally-maintained Welsh mountain ponies were challenge-infected intra-nasally with the Ab4 isolate of EHV-1. These groups were controlled by similarly-sized groups of non-infected ponies. All data generated was subjected to rigorous statistical analysis. Whole leucocyte count, neutrophil count, lymphocyte count, pan T cell count (RVC1 + cells - putative CD5 homologue), T cell subset count (RVC3 + cells - putative CD8 homologue), RVC2 + cells (putatively class II MHC+) and B cell count were recorded in experimental and control subjects at frequent intervals post-infection via flow cytometry. The principal abnormalities post-infection were T cell lymphopaenia, neutropaenia and the appearance of blastic cells of undetermined lineage. This study underlined the variability of EHV-1 infection in the natural, outbred equine host.

EEG, Quantitative EEG, BAEP and ERP in Centenarians

In 11 healthy centenarians, the principal EEG and qEEG abnormalities were background frequency slower and power lower than in younger adults. The frequency and amplitude of anterior and posterior head regions on the EEG showed no difference, but qEEG demonstrated that posterior was higher than anterior. In 5 of 11 persons the frequencies of the temporal lobe were asymmetric. BAEP and ERP were measured in 6 persons. The latencies of I, III waves of BAEP were prolonged in only 1 subject. The latencies of exogenous components (P80, N100) of ERP were in the normal range. The latencies of endogenous components (N200, P300) of these 6 persons were prolonged, but in 1 person the N200 was normal and in 2 the P300 was normal.

Chronic stress injuries of the elbow in young gymnasts

The radiological changes of chronic stress injuries of the elbow in 19 adolescent elite gymnasts are reported. The principal abnormalities were avascular necrosis of the capitellar epiphysis (Panner's disease) (one patient), post-traumatic subarticular necrosis (osteochondritis dissecans) of the capitellum (six patients) and the medial articular eminence of the distal humerus (one patient). Flattening and anterior depression of the radial head epiphysis with an underlying metaphyseal notch associated with an epiphyseal cleft (three patients), which, in one patient who continued training, developed into a chronic Salter Type IV stress fracture. A further patient, post-epiphyseal fusion, showed osteochondritis dissecans of the anterior aspect of the radial head. Seven patients exhibited a spectrum of olecranon changes from fragmentation of the epiphysis to chronic Salter Type I stress fractures of the growth plate. A follow-up survey found that, of those who responded to a questionnaire, nearly all the patients with articular surface damage failed to continue with competitive gymnastics whereas those with olecranon abnormalities were able to continue gymnastics at the same level. The mechanism of injury and the pathological changes are discussed.

Renal Osteodystrophy

Renal osteodystrophy is a complex disorder which can be divided into five distinct bone histologic subtypes: mild bone disease, hyperparathyroid bone disease, mixed bone disease, osteomalacia, and low-turnover bone disease. Hyperparathyroidism develops in renal failure due to two principal abnormalities: l,25(OH)2D3 deficiency and hyperphosphatemia. Treatment of these problems is important in order to prevent hyperparathyroidism. Most cases of osteomalacia, mixed bone disease, and low-turnover bone disease are influenced by aluminum status and parathyroid hormone. Aluminum-associated bone disease can be treated with termination of aluminum exposure and/or deferoxamine therapy. Numerous diagnostic pitfalls exist in the evaluation of renal osteodystrophy, and the bone biopsy is extremely important to avoid these problems and plan proper therapy.

Contributive Factors to Cardiovascular Hypertrophy in Renal Failure

Cardiovascular diseases are the leading cause of morbidity and mortality among end-stage renal disease (ESRD) patients. This is related to the accumulation of nonspecific cardiovascular risk factors in this population, aggravated by some specific features, proper to chronic uremia. The principal abnormalities observed in ESRD patients, with no history of cardiovascular disease, consist in an increased left ventricular mass and a chronic left ventricular dilation. The enlargement of the ventricular cavities is due to a chronic flow overload in which the anemia and dialysis arteriovenous fistula play a dominant role. The increase in ventricular mass is usually less pronounced than the ventricular dilation and for a given arterial pressure the ventricular mass-to-volume ratio is inadequately low. The "inadequate" cardiac hypertrophy is more frequently observed in patients with severe secondary hyperparathyroidism and results in a chronic increase in ventricular stress and oxygen consumption. On the other hand, ESRD patients with aluminum overload exhibit an increased ventricular mass which compensates for ventricular dilation. The echocardiographic indices of ventricular systolic function are normal, contrasting with a pronounced impairment of diastolic properties. The impairment of ventricular filling is in part related to the increased left ventricular mass.

Relationship of clinical and immunological abnormalities in haemophilia A to F VIII therapy and HIV exposure: a longitudinal study.

This study was established to examine the longitudinal consequences of F VIII therapy on immune function in 24 patients with haemophilia A. Antibodies to the human immunodeficiency virus (HIV) were found in 15 of 16 patients with severe haemophilia and in 2 of 8 patients with mild disease. The principal clinical and immunological abnormalities were restricted to the HIV antibody-positive patients: T helper cell lymphopenia (less than 0.55 x 10(9)/l) in 10 patients, persistent glandular lymphadenopathy in 4 patients and depressed response to skin recall antigens in 7 of 9 HIV-positive patients tested. Although no extension of these immunological and clinical abnormalities developed in the 18-month period of monitoring, T helper cell counts and platelet counts were significantly lower in a group of patients with established long duration HIV seropositivity (since 1982/1983) in comparison with the remaining seropositive patients. This suggests that a progressive pathological process is associated with infection by this virus, but the factors which determine the long-term sequelae are still unknown.