Search results for "ETIOLOGY"

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.

2019

Abstract Alazami syndrome (AS) (MIM# 615071 ) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian sisters with Alazami PD due to LARP7 homozygous pathogenic variants detected by whole exome sequencing. By comparing these two additional cases with those previously reported, we strengthen the key features of AS: severe growth restriction, severe intellectual disability and some distinguishing facial features such as broad nose, malar hypoplasia, wide mouth, full li…

Carditis in patients with gastro-oesophageal reflux disease: results of a controlled study based on both endoscopy and 24-h oesophageal pH monitoring

2004

Summary Background : There are conflicting reports on the role of gastro-oesophageal reflux disease (GERD) and Helicobacter pylori infection in the aetiology of carditis. Aim : The role of reflux and H. pylori infection in causing carditis was assessed in 113 consecutive patients with GERD and in 25 controls. Methods : All subjects underwent endoscopy and pH test and carditis was diagnosed on biopsies taken across the squamocolumnar junction. Helicobacter pylori was assessed by histology and rapid urease test. GERD was diagnosed by endoscopic oesophagitis or abnormal pH test. Results : Carditis was detected in 53 of 71 GERD patients and in 15 of 20 controls. Among patients, 18 showed absent…

Common etiological pathways between toxic substance use, Internet and cybersex addiction: The role of expectancies and antisocial deviance proneness

2016

This study examined Internet and cybersex addiction in adolescents and how such behaviour was associated with substance use (in particular, cigarettes, alcohol, and drug use). Participants were 312 adolescents, aged 14-16, who completed survey instruments. Study measures included demographic, toxic substance use, expectancies toward substances consumption, antisocial deviance proneness, Internet, and cybersex addiction variables. Descriptive, bivariate analyses, exploratory/confirmatory factor analyses, and structural Equation Modeling were performed. Nearly 60%, 26%, and 25% of adolescents reported having drunk alcohol, used drugs and smoked cigarettes respectively. Prevalence of Internet …

Oral findings in Midline Syndrome: a case report and literature review

2010

We describe a female patient with a midline syndrome. The patient presents agenesis of the corpus callosum, encephalocele, iris coloboma, hypertelorism, submucosal cleft palate and dental anomalies. Despite being very characteristic, her phenotypical traits do not coincide exactly with those reported to date in the literature. The karyotype and the molecular cytogenetic study do not show mutations. We identify the presence of dental anomalies in the mother and other family members, not being identified MSX1 and PAX9 mutations that could the related with their etiology. Despite the fact that dental agenesis has been related to a large number of other malformation syndromes and congenital con…

Fokussuche bei neutro- penischem Fieber

2000

Update in the management of lipedema

2021

INTRODUCTION Lipedema is a chronic feminine disease that causes abnormal fat deposition in lower limbs and occasionally upper limbs. Easy bruising and pain are common. Lipedema patients suffer from both physical and psychological disability. Despite the relatively high prevalence and the impact on the quality of life, little is known about the disease. Most patients are misdiagnosed as lymphedema or obesity. The aim was to perform a non-systematic review on lipedema literature, related to diagnosis and therapy. EVIDENCE ACQUISITION A literature search was performed by three researchers, to retrieve pertinent articles in PubMed Web of Science and ResearchGate from the last 20 years. The docu…

Mitral regurgitation of unknown etiology in a 20-year-old patient

2012

Surgical techniques for smile restoration in patients with Möbius syndrome

2013

Möbius syndrome is a congenital condition, the etiology when is not associated with misoprostol is not well defined. Signs and symptoms include difficulty swallowing, speech problems, drooling, strabismus, limitation of eye movement and more importantly, the facial blankness that these individuals have, result of the facial paralysis, due to atrophy of the cranial nerves that are involved in this condition. The ability to express emotions is affected and are considered "children without a smile." There is currently no treatment to solvent the birth defects, the treatment options for reduce these alterations is the surgical option that has as main objective to restore muscle function through…

Spontaneous Nocturnal Erections - Physiology and Clinical Applications. Spontane nachtliche Erektionen - Physiologie und klinische Anwendungen

2005

Spontaneous nocturnal erections in men are a well-known phenomenon whose physiology however is not yet really understood. The measurement of nocturnal erections has gained clinical relevance for the diagnosis of erectile dysfunction because it allows an objective and quantitative assessment of the erectile capacity. A decisive advantage compared to other diagnostic tests carried out during wakefulness is the exclusion of psychological factors to a great extent. Thus, an evaluation of the organic component of an erectile dysfunction is possible. Regarding the interpretation of nocturnal erection records, various factors possibly influencing the results must be considered; this is particularl…

Geographic stomatitis: An enigmatic condition with multiple clinical presentations

2019

Geographic stomatitis is an uncommon inflammatory condition of unknown etiology. It is characterized by reddish areas surrounded by white borders affecting any location in the oral cavity and presenting a migratory and cyclic pattern. The most common affected sites include buccal mucosa, labial mucosa and mucobuccal fold. Some patients can complain of pain or burning sensation. There are few reports in the literature about this entity and its relationship with other oral and cutaneous conditions such as fissured tongue, Reiter's syndrome, atopy and psoriasis has been suggested but it is still controversial. In the present study we describe three cases of geographic stomatitis associated wit…