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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial hyperlipidemia has received little attention as a possible cause of stroke in young patients. Some recent studies have demonstrated that lipoprotein (a) is a key factor for atherogenesis in familial hypercholesterolemia. Hypogonadism may also contribute to the elevation of serum lipids, but their influence as a risk factor for stroke is still less understood. A 34-year-old patient with heterozygous familial hypercholesterolemia presented with a left pure motor hemiparesis secondary to a right striatocapsular infarction. Arteriography showed atherosclerotic lesions in both internal carotid arteries. High levels of cholesterol, cLDL, apo B, and lipoprotein (a) were found. Clinical signs of hypogonadism were present and the karyotype led to the diagnosis of Klinefelter's syndrome (47,XXY). The early clinical course was excellent, and the levels of serum lipids were normalized with diet, lipid-lowering drugs and androgens. The importance of hyperlipidemia as a risk factor for stroke in the young, specially when it occurs in the context of familial hypercholesterolemia with elevated lipoprotein (a) levels, as well as the possible contribution of hypogonadism to the development of accelerated atherosclerosis in young patients, are discussed upon.
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PMID:[Striatocapsular infarct in a young patient with heterozygous familial hypercholesterolemia and Klinefelter's syndrome]. 828 24

Congenital disorders of glycosylation (CDG) are a group of metabolic disorders resulting from defective synthesis of N-linked oligosaccharides. CDG-Ia is the most common of the 21 known types defined by defects in different steps of the synthetic pathway. An increasing number of American adults with CDG-Ia are being recognized but little is documented on the morbidity and mortality in this population. These adults have moderate mental retardation, ataxia, retinitis pigmentosa, peripheral neuropathy, kyphoscoliosis, and endocrinopathies. Four adults with CDG-Ia, ages 19-36 years old are presented. All are active, dysarthric conversant adults with moderate cognitive impairment. They are ataxic and wheelchair dependent, however, only the oldest man shows significant muscle atrophy. All have diagnosed peripheral neuropathy. Three of four remain on anticonvulsants with only occasional seizures, none have had stroke-like episodes since their teen years. Their skeletal issues include significant kyphoscoliosis, joint contractures, and osteopenia. Retinitis pigmentosa and myopia complicate their functional vision. The women do not menstruate and the men have small testes resulting from hypogonadotropic hypogonadism. Documentation of clinical complications and successful management strategies in adults with CDG will improve their quality of life and allow more informed prognostic discussions with families of younger affected individuals.
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PMID:Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia). 1763 95

A 65-year-old man was referred to our clinic for the rehabilitation of right hemiparesis caused by ischaemic stroke. Hypertension, postphlebitic syndrome of lower limbs, frequent nose bleeding, and anemia were present in his history; in his adolescence, he was treated for idiopathic hypogonadotropic hypogonadism. Further investigations have revealed also microsomia, suggesting a clinical diagnosis of Kallmann syndrome, that is, an association, possible in males and females, of hypogonadotropic hypogonadism with olfactory deficits. A definite diagnosis of hereditary hemorrhagic telangiectasia was made based on clinical criteria and confirmed by genetic analysis.
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PMID:Hypogonadotropic hypogonadism associated with hereditary hemorrhagic telangiectasia [corrected]. 2395 91

This review focuses key advances in different pediatric fields that were published in Italian Journal of Pediatrics and in international journals in 2015. Weaning studies continue to show promise for preventing food allergy. New diagnostic tools are available for identifying the allergic origin of allergic-like symptoms. Advances have been reported in obesity, short stature and autoimmune endocrine disorders. New molecules are offered to reduce weight gain and insulin-resistance in obese children. Regional investigations may provide suggestions for preventing short stature. Epidemiological studies have evidenced the high incidence of Graves' disease and Hashimoto's thyroiditis in patients with Down syndrome. Documentation of novel risk factors for celiac disease are of use to develop strategies for prevention in the population at-risk. Diagnostic criteria for non-celiac gluten sensitivity have been reported. Negative effect on nervous system development of the supernumerary X chromosome in Klinefelter syndrome has emerged. Improvements have been made in understanding rare diseases such as Rubinstein-Taybi syndrome. Eltrombopag is an effective therapy for immune trombocytopenia. Children with sickle-cell anemia are at risk for nocturnal enuresis. Invasive diseases caused by Streptococcus pyogenes are still common despite of vaccination. No difference in frequency of antibiotic prescriptions for acute otitis media between before the publication of the national guideline and after has been found. The importance of timing of iron administration in low birth weight infants, the effect of probiotics for preventing necrotising enterocolitis and perspectives for managing jaundice and cholestasis in neonates have been highlighted. New strategies have been developed to reduce the risk for relapse in nephrotic syndrome including prednisolone during upper respiratory infection. Insights into the pathophysiology of cerebral palsy, arterial ischemic stroke and acute encephalitis may drive advances in treatment. Recommendations on breastfeeding and complementary feeding have been updated. Novel treatments for rhabdomyosarcoma should be considered for paediatric patients. Control of risk factors for bronchiolitis and administration of pavilizumab for preventing respiratory syncytial virus infection may reduce hospitalization. Identification of risk factors for hospitalization in children with wheezing can improve the management of this disease. Deletions or mutations in genes encoding proteins for surfactant function may cause diffuse lung disease.
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PMID:Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology. 2756 21

Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of central nervous system. These conditions are often under-appreciated among physicians. The first clinical manifestations of leukodystrophies are often nonspecific and can occur in different ages from neonatal to late adulthood periods. The diagnosis is, therefore, challenging in most cases.Area covered: Herein, the authors discuss different aspects of leukodystrophies. The authors used MEDLINE, EMBASE, and GOOGLE SCHOLAR to provide an extensive update about epidemiology, classifications, pathology, clinical findings, diagnostic tools, and treatments of leukodystrophies. Comprehensive evaluation of clinical findings, brain magnetic resonance imaging, and genetic studies play the key roles in the early diagnosis of individuals with leukodystrophies. No cure is available for most heritable white matter disorders but symptomatic treatments can significantly decrease the burden of events. New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leukodystrophies and result in higher diagnostic rates, new classifications of leukodystrophies based on genetic information, and replacement of symptomatic managements with more specific targeted therapies.Abbreviations: 4H: Hypomyelination, hypogonadotropic hypogonadism and hypodontia; AAV: Adeno-associated virus; AD: autosomal dominant; AGS: Aicardi-Goutieres syndrome; ALSP: Axonal spheroids and pigmented glia; APGBD: Adult polyglucosan body disease; AR: autosomal recessive; ASO: Antisense oligonucleotide therapy; AxD: Alexander disease; BAEP: Brainstem auditory evoked potentials; CAA: Cerebral amyloid angiopathy; CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASAL: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy; CARASIL: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CGH: Comparative genomic hybridization; ClC2: Chloride Ion Channel 2; CMTX: Charcot-Marie-Tooth disease, X-linked; CMV: Cytomegalovirus; CNS: central nervous system; CRISP/Cas9: Clustered regularly interspaced short palindromic repeat/CRISPR-associated 9; gRNA: Guide RNA; CTX: Cerebrotendinous xanthomatosis; DNA: Deoxyribonucleic acid; DSB: Double strand breaks; DTI: Diffusion tensor imaging; FLAIR: Fluid attenuated inversion recovery; GAN: Giant axonal neuropathy; H-ABC: Hypomyelination with atrophy of basal ganglia and cerebellum; HBSL: Hypomyelination with brainstem and spinal cord involvement and leg spasticity; HCC: Hypomyelination with congenital cataracts; HEMS: Hypomyelination of early myelinated structures; HMG CoA: Hydroxy methylglutaryl CoA; HSCT: Hematopoietic stem cell transplant; iPSC: Induced pluripotent stem cells; KSS: Kearns-Sayre syndrome; L-2-HGA: L-2-hydroxy glutaric aciduria; LBSL: Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate; LCC: Leukoencephalopathy with calcifications and cysts; LTBL: Leukoencephalopathy with thalamus and brainstem involvement and high lactate; MELAS: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MERRF: Myoclonic epilepsy with ragged red fibers; MLC: Megalencephalic leukoencephalopathy with subcortical cysts; MLD: metachromatic leukodystrophy; MRI: magnetic resonance imaging; NCL: Neuronal ceroid lipofuscinosis; NGS: Next generation sequencing; ODDD: Oculodentodigital dysplasia; PCWH: Peripheral demyelinating neuropathy-central-dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschprung disease; PMD: Pelizaeus-Merzbacher disease; PMDL: Pelizaeus-Merzbacher-like disease; RNA: Ribonucleic acid; TW: T-weighted; VWM: Vanishing white matter; WES: whole exome sequencing; WGS: whole genome sequencing; X-ALD: X-linked adrenoleukodystrophy; XLD: X-linked dominant; XLR: X-linked recessive.
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PMID:An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 3182 48

Pituitary apoplexy is a rare medico-surgical emergency that stems from an acute expansion of a pituitary adenoma from infarction or haemorrhage and where the treatment strategy is still controversial. Clinical presentation is highly variable and a high index of suspicion is needed to make the diagnosis. Furthermore, in less than half of cases, a precipitating event is identified. We report a case of a 74-year-old female who, after introduction of anticoagulation for pulmonary thromboembolism, presented with pituitary apoplexy heralded by acute adrenal insufficiency, headaches, visual symptoms and hypogonadotropic hypogonadism. Timely initiation of corticosteroids was crucial, and after stabilisation, a conservative treatment strategy was favoured with good long-term prognosis. Long-term follow-up of pituitary function also revealed new growth hormone deficiency.
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PMID:Pituitary Apoplexy Following Systemic Anticoagulation. 3189 98

We report a case of a patient who presented to our endocrinology department for gradual onset with headache, fatigue, and weight loss over the course of one month. On physical examination, the patient showcased coarse facial features, acral enlargement, and other features suggestive of acromegaly. However, despite a clinical picture consistent with this diagnosis, serum growth hormone and insulin-like growth factor 1 were below reference range. Furthermore, secondary adrenal insufficiency, secondary hypothyroidism, and hypogonadotropic hypogonadism were discovered. Imaging revealed a pituitary macroadenoma and after a neurosurgical consult, the patient underwent transsphenoidal hypophysectomy and the suspected diagnosis of subacute pituitary adenoma apoplexy (SPAA) was confirmed via histology of resected tissue. Additionally, we review the literature for other case reports of patients with acromegaly or acromegalic features who underwent pituitary apoplexy to identify patient characteristics, presumed etiologies, and presence of biochemical cure of acromegaly following SPAA.
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PMID:Pituitary Macroadenoma Presenting as Acromegaly and Subacute Pituitary Apoplexy: Case Report and Literature Review. 3292 14

There is a paucity of information as to whether chromosomal abnormalities, including Down Syndrome, Turner Syndrome, and Klinefelter Syndrome, have an association with atrial fibrillation (AF) and ischemic stroke development. Data from 3660 patients with Down Syndrome, 2408 with Turner Syndrome, and 851 with Klinefelter Syndrome without a history of AF and ischemic stroke were collected from the Korean National Health Insurance Service (2007-2014). These patients were followed-up for new-onset AF and ischemic stroke. Age- and sex-matched control subjects (at a ratio of 1:10) were selected and compared with the patients with chromosomal abnormalities. Down Syndrome patients showed a higher incidence of AF and ischemic stroke than controls. Turner Syndrome and Klinefelter Syndrome patients showed a higher incidence of AF than did the control group, but not of stroke. Multivariate Cox regression analysis revealed that three chromosomal abnormalities were independent risk factors for AF, and Down Syndrome was independently associated with the risk of stroke. In conclusion, Down Syndrome, Turner Syndrome, and Klinefelter Syndrome showed an increased risk of AF. Down Syndrome patients only showed an increased risk of stroke. Therefore, AF surveillance and active stroke prevention would be beneficial in patients with these chromosomal abnormalities.
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PMID:Chromosomal abnormalities and atrial fibrillation and ischemic stroke incidence: a nationwide population-based study. 3298 52