AIM: To assess associations of metabolic syndrome, and its individual components, with extent of severe periodontitis among patients with type 2 diabetes mellitus (T2DM). MATERIALS & METHODS: We performed a secondary data analysis (N = 283) using a cross-sectional study population of Gullah African Americans with T2DM. Extent of severe periodontitis was ...

BACKGROUND AND OBJECTIVE: Periodontitis is more frequently found in subjects with Down's syndrome. The aim was to investigate whether the relationship between MMPs and TIMPs) in the gingival crevicular fluid of subjects with Down's syndrome is altered compared with controls. MATERIAL AND METHODS: Twenty-one adolescents with Down's syndrome and gingivitis ...

Mowat-Wilson syndrome is a genetic disease characterized by typical facial features, Hirschsprung disease and multiple congenital abnormalities. MWS is a single gene disorder. One of the most specific clinical signs in MWS is the distinctive face. We report a two-year-old boy with multiple congenital anomalies. He had peripupillary atrophy and ...

Frenal attachments are thin folds of mucous membrane with enclosed muscle fibers that attach the lips to the alveolar mucosa and underlying periosteum. Most often, during the oral examination of the patient the dentist gives very little importance to the frenum, for assessing its morpholology and attachment. However, it has ...

The presence of supernumerary teeth, also known as hyperdontia, is the condition of having teeth in addition to the regular number of teeth. The occurrence of multiple supernumerary teeth is often found in association with syndromes such as Gardner syndrome, Anderson-Fabry disease, Ellis-van Creveld syndrome, Ehlers-Danlos syndrome, incontinentia pigmenti, and ...

Taurodontism leads to constriction of the cementoenamel junction, which results in vertically elongated pulp chambers, apical displacement of the pulpal floor, and bifurcation or trifurcation of the root. This trait can be seen in permanent and primary teeth, in a single tooth or in several molars in the same quadrant, ...

ABSTRACT: Sturge-Weber syndrome is a nonhereditary congenital condition characterized by leptomeningeal and facial skin angiomatous malformation following the trigeminal nerve path. The intraoral angiomatosis are presented in 40% of cases and results in an important periodontal alteration, increasing the risk of bleeding during dental procedures. A 43-year-old male patient presented ...

Experimental models of atherogenesis have provided a growing body of information about molecular mechanisms of plaque growth; however, transition from coronary stability to instability is less well understood due to the lack of animal models reflective of human disease. The abrupt clinical presentation of acute coronary syndromes gives a strong ...

Gingival fibromatosis is characterised by varying degrees of fibrotic gingival overgrowth that can be caused by a variety of aetiological factors. Hereditary gingival fibromatosis (HGF) is a rare genetic disorder, characterised by a slowly progressive, benign enlargement of keratinised gingiva. The condition may be found in an autosomal dominant or ...

We report a rare cause of cervical myelopathy (CM) in a 10-year-old Down syndrome (DS) girl. She presented with progressive CM over 1 year affecting her ability to ambulate or feed herself. The myelopathy was secondary to C2/3 instability. Surgical reduction and instrumented fusion have significantly improved her neurological status. This ...

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by multiple recurrent vascular malformations. Herein we report the case of a patient with BRBNS and placenta previa. Sonography and MRI clearly identified several hemangiomas located adjacent to the uterus with none adjacent to the anterior lower uterine segment. ...

Hereditary gingival fibromatosis is a rare benign oral condition characterised by slow and progressive enlargement of both maxillary and mandibular attached gingiva. It may develop as an isolated disorder but can feature along with a syndrome. A case of 12 year old female child who presented with generalised severe gingival ...

Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced blisters, progressive poikiloderma and varying degrees of photosensitivity. In 2003, loss-of-function mutations were identified in the gene KIND1 mapped to chromosome 20p12.3. In this paper, we report Kindler syndrome in two children born to consanguineous parents presenting acral blistering, ...

We report on a child with prenatal onset of overgrowth associated with thick, excessive wrinkled skin and other abnormalities including cleft palate, Chiari malformation and polymicrogyria. His clinical features do not resemble any of the known reported overgrowth syndromes. Genetic evaluations, including karyotype, oligoarray, methylation-sensitive multiplex ligation-dependent probe amplification (MLPA) ...

Gingival fibromatosis is a rare disease, especially its syndromic form. Here, we review the literatures on gingival fibromatosis and briefly summarize some characters on clinical, etiological, genetic and histopathological aspects. We also present a rare case of gingival fibromatosis with multiple unusual findings in a 21-year-old man. And we differentiate ...

Gingival fibromatosis is a benign oral condition characterized by enlargement of gingival tissues. It usually develops as an isolated disorder but can be one of the features of a syndrome. This case report is of a 5-year-old male with severe gingival hyperplasia and mild mental retardation which was complicated by ...

A 41-year-old HIV positive woman was started on highly active antiretroviral therapy when her CD(4) count was 54/cu mm. Three weeks later, she developed erythematous to skin-colored plaques over the face. Investigations revealed a moderate eosinophilia, raised ESR, elevated 24-hour urinary calcium and hyperglobulinemia. Skin biopsy of the facial plaque ...

Although individuals with Down syndrome have considerable oral disease, the prevalence of dental caries in this group is low. The present study aimed to compare known risk factors for dental caries development in children with Down syndrome and a matched population (siblings). In both populations, the number of acidogenic microorganisms, ...

We report late presentation of caudal regression syndrome in a 9 year old presenting with a scoliotic deformity. She in addition had an asymptomatic cervical syrinx and vitiligo. We discuss the reasons for this unusual constellation of symptomatology present in our case.

Cracked tooth syndrome (CTS) can be a perplexing disorder to diagnose and manage. Many practitioners wonder whether the latest dental materials and adhesives can or should be used when restoring these teeth. The authors reviewed the literature and developed recommendations for how to diagnose and manage CTS and prevent it ...

Mortality among males with 47,XYY is increased due to a host of conditions and diseases. Clinical studies have suggested a poorer educational level and social adaptation among 47,XYY persons. We wanted to study the socio-economic profile in 47,XYY persons and the impact on mortality. We conducted a register study using ...

Apert syndrome (acrocephalosyndactyly) is a rare congenital malformation characterized by craniosynostosis, craniofacial anomalies, and symmetric syndactyly of the hands and feet. Oral manifestations usually include bifid uvula, a Byzantine arch palate associated with lateral swellings of the palatine processes, severe maxillary dental crowding associated with teeth malposition, severe open bite, ...

The incidences of cracks in teeth seem to have increased during the past decade. Dental practitioners need to be aware of cracked tooth syndrome (CTS) in order to be successful at diagnosing CTS. Early diagnosis has been linked with successful restorative management and predictably good prognosis. The purpose of this ...

Complete or partial absence of the second sex chromosome, with or without a mosaic karyotype, is detected in approximately 1 per 2,500 live-born females. Such a cytogenetic finding coupled with clinical features, such as short stature and ovarian failure, supports the diagnosis of Turner's syndrome (TS). It is typically characterized ...

The case presented here is of a 15-year-old girl in whom nearly all the teeth except for lower first molars and lower central incisors showed short roots as observed through panoramic radiograph. At the same time there was difference in the length of roots of various teeth. The patient suffered ...

Klinefelter syndrome is the most prevalent chromosome abnormality and genetic cause of azoospermia in males. The availability of assisted reproductive technology (ART) has allowed men with Klinefelter syndrome to father their own genetic offspring. When providing ART to men with Klinefelter syndrome, it is important to be able to counsel ...

To investigate whether metabolic syndrome is a risk factor for overactive bladder (OAB) defined by the Overactive Bladder Symptom Score (OABSS). A digital rectal examination of the prostate and an OABSS questionnaire were conducted in 1031 men who visited our hospital for metabolic screening from April 2009 to March 2010. ...

Background: Restless legs syndrome (RLS) is a relatively common neurological disorder affecting sleep and health-related quality of life. Neuroimaging studies, autopsy investigations and experimental studies using animal models have been conducted to investigate the potential causes of RLS, resulting in the generation of multiple pathophysiological hypotheses. Methods: This paper reviews ...

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefting. Even though literature has documented the association of various genetic disorders with aggressive periodontitis, the periodontal manifestations in patients with EEC syndrome have never been addressed. This case report presents ...

Papillon-Lefèvre syndrome is a very rare syndrome of autosomal recessive inheritance characterized by palmar-plantar hyperkeratosis and early onset of a severe destructive periodontitis leading to premature loss of both primary and permanent dentitions. Various etiopathogenic factors are associated with the syndrome; but a recent report has suggested that the condition ...

The present study has been designed to investigate the effect of selective inhibitors of histone deacetylase and/or N-acetyl-Asp-Glu-Val-Asp-al (Ac-DEVD-CHO), a selective interleukin-1β converting enzyme inhibitor, on the development of naloxone-induced opioid withdrawal syndrome both in vitro and in vivo and the effect of histone deacetylase inhibition on histone H3 acetylation ...

Burning mouth syndrome has been reported as being more common in Parkinson's disease patients than the general population. While the pathophysiology is unclear, decreased dopamine levels and dopamine dysregulation are hypothesized to play a role. We report a patient with Parkinson's disease who developed burning mouth syndrome with carbidopa/levodopa. Our ...

We reviewed paralysis in wild birds with a special focus on the Baltic Sea paralytic syndrome recently described by Balk et al. (2009) by assessing multiple causative factors. The review showed that paralysis may occur in various species and that the aetiology can be divided into biotoxins, nutritional deficiencies, environmental ...

We know little about effective treatment for patients suffering from partial or complete Klüver-Bucy Syndrome (KBS) and other disruptive behaviors following a stroke. Reported cases have shown that certain medication, given alone or combined, can be partially effective. In this specific case study, we will try to demonstrate the effectiveness ...

A 44-year-old woman was referred with 3 mm of left enophthalmos and a deep superior sulcus. She was diagnosed 6 months earlier with silent sinus syndrome and had undergone a left middle-meatal antrostomy with improvement of her hypoglobus but not of her enophthalmos and superior sulcus deformity. Two milliliters of ...

Amelogenesis imperfecta (AI) is due to many inherited defects of enamel formation that affect the quantity and quality of enamel, leading to delay in tooth eruption and cosmetic consequences. AI has been described in association with nephrocalcinosis, which is called the enamel-renal syndrome. The aim of this case report is ...

A rare case of Papillon-Lefevre syndrome is discussed with clinicoradiological presentation. The purpose of the case report is to make the medical community aware of this rare syndrome and its association with consanguinity. Papillon-Lefevre syndrome is an extremely rare genodermatosis of autosomal-recessive inheritance which usually manifests itself between the ages ...

The purpose of this case report was to describe the clinical long-term outcome, 11 years after periodontal therapy, of 2 siblings diagnosed with Papillon-Lefèvre syndrome. Sibling 1 was a 14-year-old boy with severe periodontal bone loss in his permanent dentition. Sibling 2 was a 7-year-old girl with mixed-dentition and also ...

Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, growth retardation, and mental deficiency. A seven-year-old girl had come to the Department of Pedodontics, Istanbul Medipol University, Faculty of Dentistry, Turkey, with a complaint of caries and bleeding of gingivae. The patient was mentally retarded. ...

Cannabinoid hyperemesis syndrome (CHS) is a rare constellation of clinical findings that includes a history of chronic heavy marijuana use, severe abdominal pain, unrelenting nausea, and intractable vomiting. A striking component of this history includes the use of hot showers or long baths that help to alleviate these symptoms. This ...

Serotonin syndrome is a potentially life-threatening condition caused by excessive serotonergic activity in the central nervous system. It is characterized by mental status changes (eg, confusion, agitation, lethargy, coma), autonomic instability (eg, hyperthermia, tachycardia, diaphoresis, nausea, vomiting, diarrhea, dilated pupils), and neuromuscular hyperactivity (eg, myoclonus, hyperreflexia, rigidity, trismus). Serotonin syndrome ...

We present a case of marijuana-induced ST segment elevation mimicking Brugada syndrome in a young man. Cannabis can have a multitude of effects on the different organ systems of the body; we take a closer look at its effects on the cardiovascular system, including acute coronary syndrome, arrhythmias and congestive ...

Refractory nephrotic syndrome continues to be a therapeutic challenge despite advances in immunosuppression and blockade of the renin-angiotensin-aldosterone cascade. Adrenocorticotropic hormone (ACTH), a pituitary neuroimmunoendocrine polypeptide, was widely used in the 1950s as an effective therapy for childhood nephrotic syndrome, but has since been replaced by synthetic glucocorticoid analogues. In ...

Whether a dopamine-deficiency syndrome in a Parkinson-syndrome (PS) may occur more easily during a heat wave than during more temperate climate conditions is unknown. We report a case that may suggest this. A 56 yo male with heterozygosity for metachromatic leucodystrophy and a history of metabolic myopathy, PS and diabetes ...

Carpal tunnel syndrome is a serious therapeutic problem and it considerably impairs the patients' quality of life. Despite many studies, the effectiveness of conservative treatment is still debatable. This study aimed to evaluate the immediate and long-term effects of conservative treatment involving ultrasound therapy combined with massage and kinesiotherapy for ...

The silent sinus syndrome is characterized by atelectasis of the maxillary sinus in the setting of subclinical maxillary sinusitis and obstruction of the osteomeatal unit. The resultant expansion of orbital volume causes enophthalmos and hypoglobus. A review of the literature reveals only unilateral cases. The authors present a case of ...

Evidence is accumulating that environmental chemicals (ECs) including endocrine-disrupting compounds (EDCs) can alter female reproductive development, fertility and onset of menopause. While not as clearly defined as in the male, this set of abnormalities may constitute an Ovarian Dysgenesis Syndrome with at least some origins of the syndrome arising during ...

There is controversy concerning the role of sugar in the epidemics of obesity and metabolic syndrome. There is less controversy concerning the effects of fructose on components of metabolic syndrome; consumption of fructose has been shown to increase visceral adipose deposition and de novo lipogenesis (DNL), produce dyslipidemia, and decrease ...

Chanarin-Dorfman syndrome (CDS) is an autosomal recessive metabolic disorder characterized by congenital ichthyosis and visceral complications due to accumulation of neutral lipids. CDS is caused by mutations in the ABHD5 (previously termed CGI-58) gene. In the present study, we assessed a young child presenting with ichthyosis and hepatomegaly, suggesting a ...

Statins are the main resource available to reduce LDL-cholesterol levels. Their continuous use decreases cardiovascular morbidity and mortality due to atherosclerosis. The administration of these medications demonstrated to be effective in primary and secondary prevention clinical trials in low and high risk patients. Specialists believe that a possible benefit of ...