Allgrove or 4 "A" syndrome: An autosomal recessive syndrome causing multisystem neurological disease

Allgrove’s or "4 A" syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among other features. Recent studies have identified mutations in the AAAS, a candidate gene on chromosome 12q13 in such patients. Manifestations in adult patients are rarely reported. The syndrome usually presents during the first decade of life with dysphagia or severe (occasionally fatal) hypoglycaemic or hypotensive attacks, related to adrenocortical insufficiency. Onset of adrenal insufficiency or other features may be delayed to adulthood. In contrast with paediatric patients, adult patients with Allgrove’s syndrome may present with multisystem neurological disease; the childhood history of achalasia or alacrima may be overlooked. The authors describe two families with two affected siblings and a further unrelated patient with typical clinical features of Allgrove’s syndrome, who exhibit signs of multisystem neurological disease including hyperreflexia, muscle wasting, dysarthria, ataxia, optic atrophy, and intellectual impairment. None of the cases have developed adrenal insufficiency but all have progressive neurological disability. Autonomic dysfunction was a significant cause of morbidity in two cases. The three index cases represent the longest described follow up of Allgrove’s syndrome into adulthood. It is speculated that they represent a subgroup of patients who follow an often undiagnosed chronic neurological course. Recognition of the syndrome presenting in adult life permits treatment of unrecognised autonomic dysfunction, adrenal insufficiency and dysphagia, and appropriate genetic advice

Strategies for including children with visual impairment in the mainstream primary school

No abstract available

Strategies for including children with visual impairment in the mainstream primary school

No abstract available

Adherence to treatment in patients with epilepsy: associations with seizure control and illness beliefs

Objective This study investigated non-adherence to antiepileptic drug treatment amongst patients with epilepsy in secondary care. The associations between adherence and seizure control, perceptions of illness and medication, anxiety and depression were also examined.Methods A cross-sectional study of fifty-four patients with epilepsy were recruited from a hospital epilepsy clinic.Results Fifty-nine percent were estimated to be non-adherent to medication. There was a negative correlation between adherence and frequency of seizures. Patients with poorly controlled epilepsy were more anxious, and expected a longer duration of their epilepsy.Conclusion Assessment of adherence should be a routine part of management of epilepsy. Further recognition and support should be given to patients who have poor seizure control since they are more likely to be more anxious and have unhelpful illness and treatment beliefs

Impact of heavy resistance training on pregnancy and postpartum health outcomes.

Participation in Olympic weightlifting, the Valsalva maneuver, and acute or prolonged supine weightlifting during pregnancy are cautioned against; however, these recommendations are based on expert opinions as opposed to empirical evidence. The aim of this study was to examine the training and health outcomes of individuals who engaged in heavy resistance training during pregnancy. A total of 679 individuals who lifted at least 80% one-repetition maximum during pregnancy participated in an online survey. Participants were primarily recreational athletes (88%, 332 out of 675) engaged in CrossFit™ (61%, 410 out of 675) and/or weightlifting (49%, 332 out of 675) during pregnancy. Most participants reported no complications during pregnancy or delivery (66%, 388 out of 589), whereas 57% (241 out of 426) reported urinary incontinence following pregnancy. Participants who maintained pre-pregnancy training levels until delivery reported significantly less reproductive complications than those who ceased training levels prior to delivery (p = 0.006). Most respondents engaged in Olympic lifting (72%, 311 out of 432) and lifting in a supine position (71%, 306 out of 437), whereas fewer reported use of the Valsalva maneuver during pregnancy (34%, 142 out of 412). Most returned to weightlifting following delivery (89%, 400 out of 447, average: 3.2 ± 3.0 months), including Olympic lifting (81%, 300 out of 372, average: 4.0 ± 3.4 months) and Valsalva (62%, 213 out of 341, average: 4.5 ± 3.6 months). Individuals who engaged in heavy prenatal resistance training had typical perinatal and pelvic floor health outcomes that were not altered whether they engaged in, or avoided Olympic lifting, Valsalva or supine weightlifting. [Abstract copyright: © 2022. The International Urogynecological Association.

Adherence to treatment in patients with epilepsy: Associations with seizure control and illness beliefs

Objective: This study investigated non-adherence to antiepileptic drug treatment amongst patients with epilepsy in secondary care. The associations between adherence and seizure control, perceptions of illness and medication, anxiety and depression were also examined. Methods: A cross-sectional study of fifty-four patients with epilepsy were recruited from a hospital epilepsy clinic. Results: Fifty-nine percent were estimated to be non-adherent to medication. There was a negative correlation between adherence and frequency of seizures. Patients with poorly controlled epilepsy were more anxious, and expected a longer duration of their epilepsy. Conclusion: Assessment of adherence should be a routine part of management of epilepsy. Further recognition and support should be given to patients who have poor seizure control since they are more likely to be more anxious and have unhelpful illness and treatment beliefs