Dynamics of culling risk with disposal codes reported by Dairy Herd Improvement dairy herds.

The objective was to describe the dynamics of culling risk with disposal codes for Holstein dairy cows reported by herds enrolled in the Dairy Herd Improvement program. Dairy producers could report 1 of 9 possible disposal codes or forego reporting a code. After edits, 3,629,002 lactation records were available for cows calving between 2001 and 2006 in 2,054 herds located in 38 states primarily east of the Mississippi river. The distribution of culled cows by disposal code was estimated by parity, days after calving, pregnancy status, cow-relative 305-d mature equivalent milk yield, herd-relative 305-d mature equivalent milk yield, and season. Of all herds, 57% reported all 8 different disposal codes excluding the codes dairy purposes and reason not reported. Hazard (risk) functions were calculated by parity, from 1 to 520 d since calving for open cows and from 1 to 280 d since conception for pregnant cows. Annualized live culling rate and death rate (reported code was death) were 25.1 and 6.6%, respectively. The primary disposal code was died (20.6% of all culling), followed by reproduction (17.7%), injury/other (14.3%), and low production and mastitis (both 12.1%). The risk of culling with various disposal codes varied with stage of lactation. Died and reproduction were the most frequently reported codes for cows leaving the herd during early and late lactation, respectively. Early lactation was also a critical period for culling with the disposal codes injury/other and disease, and the risk increased with days after calving for the codes low production and reproduction. The risk of culling with the disposal code died showed the greatest seasonal pattern with increased risk of death in spring and summer. A negative association was found between annualized live culling and death rates within herds. Compared with open cows, pregnant cows had a lower risk of culling with all reported disposal codes. In addition, the risk of culling was lower in high-producing cows with all disposal codes. In conclusion, the risk for culling by disposal code varied by parity, stage of lactation, season, pregnancy status, and milk yield.

Maternal and neonatal lipopolysaccharide and Fas responses are altered by antenatal risk factors for sepsis.

The diagnosis of neonatal sepsis is difficult, resulting in unnecessary treatment to minimize morbidity and mortality. We hypothesized that exposure to antenatal risk factors for sepsis alters the perinatal neutrophil phenotype. The study setting was a tertiary referral university-affiliated maternity and neonatal hospital. Neutrophils from adults, normal neonates, neonates with antenatal sepsis risk factors and their respective maternal samples were incubated alone, with agonistic Fas antibody or with lipopolysaccharide (LPS). Surface receptor CD11b expression and the percentage apoptosis (persistent inflammatory response) were assessed using flow cytometry. Both mothers and asymptomatic neonates exposed to maternal sepsis risk factors had increased spontaneous neutrophil apoptosis compared to their respective controls. Infants with sepsis were LPS and Fas hyporesponsive. Maternal neutrophils had a delay in apoptosis in all groups with enhanced LPS and Fas responses associated with neonatal sepsis. CD11b expression was not altered significantly between groups. Maternal neutrophil function is altered in neonatal sepsis and may have a diagnostic role. Neonatal sepsis was associated with LPS hyporesponsiveness, potentially increasing susceptibility to infection.

PANDAS (Paediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infection).

PANDAS (Paediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infection) is a rare condition first described in 1998. It describes the presence of obsessive-compulsive disorder (OCD) or tics with an episodic course, and a temporal relationship to Group A beta haemolytic streptococcal infection (GABHS). Recurrent episodes can be disruptive and upsetting for a child, but the best way to treat the condition has yet to be established. Penicillin prophylaxis has not proved effective, and other therapies are experimental. There is some evidence in the literature to support the role of tonsillectomy in improving the condition. We report a case of a 6-year-old boy who presented with tic and hemi-chorea associated with GABHS throat infection. He had a recurrence of his symptoms associated with a further GABHS infection, but has had no further symptoms following tonsillectomy. This case report lends further evidence to the role of tonsillectomy in the management of PANDAS.

Audit of the management of convulsive status epilepticus in children: the need for a uniform treatment strategy.

We conducted a two-year prospective audit to review the paediatric management of Convulsive Status Epilepticus (CSE) in Ireland. Our audit showed that there is considerable variability in the management of CSE in this country. In order to provide optimum care for this potentially life-threatening condition a uniform management strategy is required. We propose a protocol for the treatment of CSE, which should ensure uniform management and optimum care and also provide a template for further study and audit of this important disorder.

Effect of lameness on the calving-to-conception interval in dairy cows.

OBJECTIVE: To examine the relationship between lameness and the duration of the interval from calving to subsequent conception in lactating dairy cows. DESIGN: Cohort study. ANIMALS: 837 dairy cows. PROCEDURE: Cows affected with lameness were classified into 1 of 4 groups on the basis of types of disease or lesions observed, including foot rot, papillomatous digital dermatitis, claw lesions, or multiple lesions. Cows not affected with lameness were classified as healthy. Time from calving to conception was compared between lame cows and healthy cows. RESULTS: 254 (30%) cows were affected with lameness during lactation. Most lame cows (59%) had claw lesions. Lame cows with claw lesions were 0.52 times as likely to conceive as healthy cows. Median time to conception was 40 days longer in lame cows with claw lesions, compared with healthy cows. Number of breedings per conception for lame cows with claw lesions was significantly higher than that for healthy cows. CONCLUSION AND CLINICAL RELEVANCE: Claw lesions were the most important cause of lameness, impairing reproductive performance in dairy cows, as indicated by a higher incidence of affected cows and a greater time from calving to conception and a higher number of breedings required per conception, compared with healthy cows.

Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred.

BACKGROUND: Rapid-onset dystonia-parkinsonism (RDP) is an autosomal dominant disorder linked to chromosome 19q13 that is characterized by sudden onset of primarily bulbar and upper limb dystonia with parkinsonism. METHODS: The authors evaluated 12 individuals from three generations of an Irish family and obtained detailed medical records on a deceased member. The authors describe the clinical, psychiatric, and genetic features of the affected individuals. RESULTS: Five of eight affected members developed sudden-onset (several hours to days) dystonia with postural instability. Four of the five also had bulbar symptoms. Two have stable focal or segmental limb dystonia. One has intermittent hemidystonia with dysarthria that comes on abruptly in times of stress or anxiety. Three had a history of profound difficulty socializing, and at presentation two developed depression. Three patients had a trial of dopamine agonists without benefit. Genetic analysis suggests linkage to chromosome 19 with lod score of 2.1 at zero recombination. CONCLUSION: This is the third reported family with chromosome 19q13 rapid-onset dystonia-parkinsonism. Psychiatric morbidity appeared common in affected members of this family and may be part of the RDP phenotype.

Cerebral tuberculomas in Northern Ireland.

Two children presenting with very different clinical pictures were both found to have intracranial tuberculomas. This condition, although rare in developed countries, should be suspected in any child with enhancing cerebral lesions or cranial computed tomography.

Rapid onset dystonia-parkinsonism in a 14-year-old girl.

A painful dystonia of rapid onset and associated parkinsonian features is described in a girl aged 14 years. The condition is refractory to treatment and has led to severe neurological disability. Her father had presented with a similar picture.

Retrospective study of late febrile seizures.

This retrospective study documents the clinical features, electroencephalographic data, and outcome of 50 children with a history of seizures with fever that occurred after 5 years of age. Children with afebrile seizures before the onset of febrile seizures were excluded. Outcome was based on a cross-sectional survey and the follow-up period was 1-13 years. Of the 50 children, 40 had two or fewer febrile seizures after 5 years of age, and febrile seizures did not occur after 10 years of age. Twenty had complex febrile seizures, and 16 had a first-degree relative with febrile seizures. Five developed afebrile seizures, and 18 had educational difficulties. Epileptiform electroencephalographic abnormalities were observed in 22 but were not predictive of later afebrile seizures. Febrile seizures that occur after 5 years of age recur infrequently and cease by 10 years of age. The risk of developing afebrile seizures in this group is small.

Factors affecting seasonal variation in 90-day nonreturn rate to first service in lactating Holstein cows in a hot climate.

The objective was to determine factors controlling seasonal variation in 90-d nonreturn rate to first service (90-d NRR) including effects of location, milk yield, and weather variables on specific days before and after breeding. Dairy Herd Improvement Association records on first services from 8124 Holstein cows in south Georgia (GA, n = 7 herds), north Florida (NF, n = 5), and south Florida (SF, n = 5) were used. The 90-d NRR was affected by location x month of breeding. The summer drop in 90-d NRR was of lower magnitude and duration in GA than in NF or SF and of lower magnitude and duration for NF than SF. When cows were grouped according to mature equivalent milk yield, there was a milk yield class x month of breeding interaction. As milk yield class increased, the summer depression in 90-d NRR was more pronounced. In a second series of analyses, effects of average air temperature at d -10, 0, and 10 relative to breeding were evaluated with subsets of cows in which average air temperature on the 10 d before the reference day were cool (< 25 degrees C). The 90-d NRR for cows having average temperatures > 20 degrees C on d -10 was less than 90 d NRR for cows with average temperatures < or = 20 degrees C on d -10 (60.1 vs. 36.5%). Similar results were found on d 0 (59.6 vs. 41.4%) and d 10 (56.9 vs. 41.1%). Thus, heat stress before and after breeding, and on the day of breeding, is associated with low 90-d NRR.

An audit of paediatric epilepsy care.

Basic standards for the process of paediatric epilepsy care were identified and applied in a clinical audit; findings were presented and the audit repeated. Standards agreed related to quality of correspondence, prescribing practice, appropriateness of drug monitoring, use of neuroimaging, and quality of requests for electroencephalography (EEG). Parent satisfaction with staff courtesy, doctor communication, and clinic visits were also assessed. In the second audit prescribing practice and appropriateness of drug monitoring had improved, but quality of patient correspondence and requests for EEG were unchanged. In both periods of care many parents were dissatisfied with the quality and amount of information provided about epilepsy. Standards of care for the medical management of children with epilepsy can be agreed and used to identify achievable improvements in that care.

Basal ganglia infarction associated with HHV-6 infection.

A 6 year old boy presented with meningoencephalitis and was found to have serological evidence of acute human herpes virus-6 (HHV-6) infection. He did not develop symptomatic seizures or the rash of exanthum subitum (roseola). His course was marked by severe spastic quadriparesis associated with radiological evidence of basal ganglia infarction. HHV-6 infection should be considered in any child with acute meningoencephalitis.

Thrombotic thrombocytopenic purpura: a treatable cause of childhood encephalopathy.

We describe two patients less than 13 years of age with thrombotic thrombocytopenic purpura, a rare disorder in childhood. Both children were treated with plasma exchange therapy, which resulted in a rapid resolution of symptoms. This disorder is a cause of childhood encephalopathy, which can be treated effectively with plasma exchange.

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis.

We have investigated a family in which three siblings with the autosomal dominant disorder tuberous sclerosis had unaffected parents. The family were typed for polymorphic markers spanning the two genes known to cause tuberous sclerosis located at 9q34 (TSC1) and 16p13.3 (TSC2). TSC1 markers showed different maternal and paternal haplotypes in affected children, excluding a mutation in TSC1 as the cause of the disease. For the TSC2 markers all the affected children had the same maternal and paternal haplotypes, as did three of their unaffected siblings. Mutation screening by RT-PCR and direct sequencing of the TSC2 gene identified a 4 bp insertion TACT following nucleotide 2077 in exon 18 which was present in the three affected children but not in five unaffected siblings or the parents. This mutation would cause a frameshift and premature termination at codon 703. Absence of the mutation in lymphocyte DNA from the parents was consistent with germline mosaicism and this was confirmed by our finding of identical chromosome 16 haplotypes in affected and unaffected siblings, providing unequivocal evidence of two different cell lines in the gametes. Molecular analysis of the TSC2 alleles present in the affected subjects showed that the mutation had been inherited from the mother. This is the first case of germline mosaicism in tuberous sclerosis proven by molecular genetic analysis and also the first example of female germline mosaicism for a characterized autosomal dominant gene mutation apparently not associated with somatic mosaicism.

The cutaneous features of tuberous sclerosis: a population study.

We report the cross-sectional age-related prevalence of cutaneous features of the tuberous sclerosis complex in a defined population. Of 131 affected individuals, 126 (96%) exhibited skin signs. Although there is considerable variation in the age of expression of all the skin lesions, there is a trend towards the earlier expression of hypomelanic macules and forehead fibrous plaques compared with facial angiofibromas and ungual fibromas. Shagreen patches are usually present by puberty. Ungual fibromas appeared for the first time as late as the fifth decade and were the only clinical feature in three individuals. Gum fibromas were present in 36%. Ten individuals (8%) presented because of the skin manifestations and 21% received treatment for symptomatic skin lesions. Two individuals had large hamartomas at unusual sites (occiput and forearm).

Morbidity associated with tuberous sclerosis: a population study.

Neurological complications and other causes of morbidity were studied in 122 of 131 individuals (64 males, 67 females) with tuberous sclerosis, in a popululation in which its prevalence was 1/26,500. Seizures occurred in 78 per cent, beginning at less that one year of age in 69 per cent (in more males than females in both cases) and after age 16 in 4 per cent. More males than females also had infantile spasms and persistent seizures. Learning disorder occured in 53 per cent (also in more males), all with a history of seizures, and was strongly correlated with age at onset of seizures, type of seizure and outcome for seizure control. Of subjects with learning disorder, 85 per cent required supervision for daily living and 65 per cent had little or no language; 97 per cent were fully mobile. Hemiparesis had occurred in eight of the 131, giant cell astrocytomas in nine bilateral polycystic kidney disease in two, and haemorrhagic complication relating to renal angiomyolipomas in six.

Follicular atrophoderma in association with congenital pseudarthrosis of the tibia.

Follicular atrophoderma has always been associated with other congenital malformations including, Conradi-Hünermann syndrome, Bazex's syndrome and keratosis palmaris et plantaris dissipata. Congenital pseudarthrosis of the tibia has usually been associated with neurofibromatosis. We report a case of follicular atrophoderma in association with congenital pseudarthrosis of the tibia: a previously unreported association with, in our case, a good outcome for the pseudarthrosis.