Global Presence and Penetrance of -Related Disorder.

Objectives: To highlight the worldwide presence of -related disorder (-RD), discuss its penetrance, and provide the first haplotype analysis.

Methods: Data on patients worldwide were collected, including demographics, genotype, family history, and clinical status. For haplotype analysis, polymorphisms of short tandem repeats in 3 distinct families with p.

Atypical painful stroke presentations: A review.

Stroke is a leading cause of death and disability. Some patients may present with atypical symptoms. One of the very rare presentations of stroke is initial neurogenic pain.

Neurological manifestation of 22q11.2 deletion syndrome.

22q11.2 deletion syndrome is the most common microdeletion syndrome. This article reviews the different neurological manifestations of 22q11.

Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.

The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now increasingly available and have led to a significant higher diagnostic yield in early-onset epilepsies and enabled precision medicine approaches. These have been instrumental in providing insights into the pathophysiology of both early-onset benign and self-limited syndromes and devastating developmental and epileptic encephalopathies (DEEs).

5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome.

Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.

Neurological manifestations of neurofibromatosis: a review.

Neurofibromatosis type 1(NF1) is a dominantly inherited genetic disorder caused by a mutation in the NF1 tumor-suppressor gene. Patients are prone to develop benign and malignant tumors not only in the central and peripheral nervous system but also in other parts of the body. Apart from tumors, neurofibromatosis may also be associated with neurological symptoms and disorders such as cerebrovascular disease, epilepsy, neuropathy, and headache.

[Diagnosis, monitoring and treatment of tuberous sclerosis complex].

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with highly varying disease manifestations, many of which cause extensive morbidity. There are international consensus criteria for the diagnosis, monitoring and treatment of TSC, and approved medical treatment for some of the most serious disease manifestations. However, organisation of a rational and coordinated care of TSC patients involves many different medical specialities and is only sparsely described.

Letter to the editor: insular stroke presenting with acute onset of pain.

Post-stroke pain is a well-known neuropathic pain syndrome but pain at the onset of stroke is a very rare occurrence. We wish to present a case where a stroke in the insular region caused acute-onset lateralized neuropathic pain.

Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum.

We report a novel patient with the phenotypic characteristics of Schaaf-Yang syndrome. In addition, the patient has a severe chronic digestive malfunction, rendering him dependent on intermittent enteral supplementation. To our knowledge, this is the first report of Schaaf-Yang syndrome associated with severe chronic digestive malfunction manifesting with both a malrotation and signs of a chronic intestinal pseudo-obstruction.

[Classic psychedelic drugs and their potential therapeutic effect].

Over the past decade we have witnessed a renewed scientific interest in the classic hallucinogens (psychedelic drugs). These are substances which exert their effects by an agonist action on the 5-HT2A receptors. The purpose of this paper is to provide a short review and discussion of the psychedelic drugs, their safety profile and their potential antidepressive, anxiolytic and antiaddictive effects.

Herniation of uncus and parahippocampal gyrus: an accidental finding on magnetic resonance imaging of cerebrum.

Idiopathic herniation of uncus and parahippocampal gyrus into the ambient cistern is a very rare entity, which could be mistaken for other pathology such as tumor. To the best of our knowledge, two prior cases of this kind of herniation have been described. One of these cases was with associated symptomatology and other abnormalities, and the other was characterized as idiopathic.

[Retardation of psychomotor development and tremor in a boy with 48,XXYY karyotype].

We report a seven-year-old boy with 48,XXYY karyotype, presenting with tremor and a slight retardation of psychomotor development. Although the physical phenotype is similar to 47,XXY, 48,XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features. Increased awareness of such features is important to facilitate timely diagnosis and initiation of appropriate screenings and treatments.

[Diabetic ketoacidosis masked by metabolic alkalosis].

Diabetic ketoacidosis is caused by accumulation of acetoacetic and β-hydroxybutyric acids and is a common acute metabolic complication of type 1 diabetes mellitus. A much less common and recognized metabolic complication is diabetic ketoacidosis with alkalaemia ("ketoalkalosis"). Diuretic use, vomiting, alkali ingestion, and hypercortisolism have all been implicated as potential causes of this disorder.

A possible role of chitin in the pathogenesis of asthma and allergy.

Chitin is the second most abundant polysaccharide in the world; it is found in insects, parasites and fungi. Chitinases break down chitin, and are a part of the defence mechanism against chitin-containing parasites in lower life forms. This review is based on the results of PubMed-searches using the search-terms: chitin, chitinase, allergy and asthma.