Australas J Dermatol
March 2024
Background: The Infants and Toddlers Dermatology Quality of Life (InToDermQoL) questionnaire is the first dermatology-specific proxy health related QoL instrument for children from birth to 4 years. Score meaning bands and the sensitivity to successful therapeutic intervention are important to interpret the clinical meaning of an instrument.
Objective: The aim of the present study was to check the sensitivity to successful therapeutic intervention and establish score bands of the InToDermQoL questionnaire.
Eur J Case Rep Intern Med
September 2022
Unlabelled: Thrombosis of the palmar digital veins is relatively rare, typically reported in women aged 35-65 years and most commonly occurring on the fourth digit. Clinical presentation varies and the lesion can present on the fingers or the palms of the hands. Diagnosis may be suspected clinically and confirmed on histology and radiologically.
View Article and Find Full Text PDFOncocytic adrenocortical neoplasms are a rare histopathological subtype of adrenal tumours which are usually benign and, if malignant, are less likely to metastasise. We report a case of a non-functioning oncocytic adrenocortical tumour, identified incidentally in a middle-aged woman. It was initially reported as a left-sided 3.
View Article and Find Full Text PDFThe positive regulatory (PR) domain containing 13 (PRDM13) putative chromatin modifier and transcriptional regulator functions downstream of the transcription factor PTF1A, which controls GABAergic fate in the spinal cord and neurogenesis in the hypothalamus. Here, we report a recessive syndrome associated with PRDM13 mutation. Patients exhibited intellectual disability, ataxia with cerebellar hypoplasia, scoliosis, and delayed puberty with congenital hypogonadotropic hypogonadism (CHH).
View Article and Find Full Text PDFBasic sciences are a cornerstone of undergraduate medical education (UME), yet research indicates that students' basic science knowledge is not well retained. Many UME curricula are increasing the integration between the basic and clinical sciences with the goal of enhancing students' knowledge levels; however, the impact of clerkship training on students' basic science knowledge remains inconclusive. Thus, using clerkship directors' expectations as framework, we aimed to assess third-year medical students' basic science knowledge during clerkship training and evaluate the influence of clerkship training on their basic science knowledge.
View Article and Find Full Text PDFBasic sciences are a cornerstone of undergraduate medical education (UME) as they provide a necessary foundation for the clinical sciences to be built upon and help foster trainees' competency. However, research indicates that students' basic science knowledge is not well retained, and as a result, students are ill-prepared, with respect to their basic science knowledge, when entering clerkship. One potential reason why students may not be prepared for clerkship is a lack of understanding as to which basic science concepts are critical for medical students to retain from pre-clerkship.
View Article and Find Full Text PDFHepatic cytochrome P450 enzyme induction is associated with certain antiepileptic drugs (AEDs) and may result in hypocalcaemia secondary to vitamin D deficiency. We report a case of a 44-year-old man with a history of epilepsy, who presented with breakthrough seizures after having previously been seizure-free for 11 years. Investigations revealed severe hypocalcaemia with a corrected calcium of 1.
View Article and Find Full Text PDFBackground: Eosinophilic gastroenteropathy is an uncommon condition whose causes can be numerous and non-specific. The aim of the study was to characterize the presence of gastrointestinal disorders in the adult Maltese population and assess the degree of association with atopic diseases.
Methods: Adult patients with gastrointestinal eosinophilia in the gastrointestinal tract on histology were identified and their clinical case notes were reviewed.
Spider poisoning is rare in Europe, with very few reported cases in the literature. Recluse spider (genus Loxosceles) bites may lead to cutaneous and systemic manifestations known as loxoscelism. We report the second known case of spider bite poisoning in Malta caused by Loxosceles rufescens (Mediterranean recluse spider).
View Article and Find Full Text PDFBackground: A study evaluating subjective trainee responses to simulation training organized by the Malta Foundation Program in particular whether this changed their clinical practice.
Method: Feedback using a standardized questionnaire was obtained from 120 (M=55%) participants. A 0-10 Likert scale was used to evaluate responses.
Patent foramen ovale (PFO) is one of the most important causes of paradoxical embolism; it is found in about 25-30% of the population. In most patients, it is asymptomatic and diagnosis is usually made during routine echocardiography. In a small proportion of patients, PFO is diagnosed after paradoxical embolism is suspected.
View Article and Find Full Text PDFA 72-year-old man with a background of ischaemic heart disease was referred to the accident and emergency department with a 1-week history of worsening dyspnoea and lethargy. A chest X-ray revealed a right-sided lobar pneumonia and a prolonged corrected QT interval was noted on his ECG at presentation. Laboratory investigations confirmed severe hypocalcaemia, significant vitamin D deficiency and relative hypoparathyroidism.
View Article and Find Full Text PDFSickle cell trait (SCT) is a condition in which an individual inherits one sickle hemoglobin gene (HbS) and one normal beta hemoglobin gene (HbA). It has been hypothesized that under extreme physical stress, the compromised mechanical properties of the red blood cells (RBCs) may be the underlying mechanism of clinical complications of sickle cell trait individuals. However, whether sickle cell trait (SCT) should be treated as physiologically normal remains controversial.
View Article and Find Full Text PDFThe presence of autoantibodies to autonomic nervous tissue structures is a feature of patients with symptomatic diabetic autonomic neuropathy. It has not been established whether these autoantibodies cause, contribute to or simply reflect nervous tissue damage. Serum samples were tested for the presence of complement-fixing autoantibodies to adrenal medulla, vagus nerve, and sympathetic ganglion cells, to demonstrate: (a) reproducibility of the technique, (b) persistence of the antibodies, and (c) whether or not they occur in patients with non-insulin-dependent (Type 2) diabetes (NIDDM) with neuropathy.
View Article and Find Full Text PDFWe present a series of patients with both an eating disorder and diabetes mellitus and compare these to a group of non-diabetic patients from the same clinic. Significantly more of the diabetic patients had previous attempts at treatment for their eating disorder. A high incidence of diabetic complications was noted with clear implications, both clinically and economically, for early intervention.
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