Nevoid basal cell carcinoma (BCC) syndrome, or Gorlin syndrome, is a rare autosomal dominant disorder associated with mutations in the patched 1 gene, PTCH1. It is characterized by the presence of multiple BCCs in association with disorders affecting the bones, the skin, the eyes, and the nervous system. We describe ...

Although perceived as a rare condition, joint hypermobility syndrome is common. Its prevalence in rheumatology clinics is extremely high. Early estimates suggest that it may be the most common of all rheumatologic conditions. The problem lies in the general lack of awareness of the syndrome, its means of recognition, and ...

Signaling through the hypoxia-inducible factor hif-1 controls longevity, metabolism and stress resistance in C. elegans. HIF protein levels are regulated through an evolutionarily conserved ubiquitin ligase complex. Mutations in the VHL gene, encoding a core component of this complex, cause a multi-tumor syndrome and renal cell carcinoma in humans. In ...

The phenotypic description of SHORT syndrome (OMIM- 269880) is expanding since its initial description in 1975. There have been 26 case reports till date but the genetic locus of this syndrome is elusive. Involvement of PITX2 gene initially envisaged is probably is not the only gene involved but has an ...

The most difficult component in our understanding of human autoimmunity remains a rigorous dissection of etiological events. Indeed, the vast literature on autoimmune diseases focuses on the inflammatory response, with the hope of developing drugs that reduce inflammation. However, there is increasing recognition that understanding the immunobiology of target tissues ...

Running, or any aerobic training in moderation, has a positive effect on health. There is a point of diminishing returns, where chronic stress from overtraining, which is common in runners, may be linked to problems in the adrenal gland. Overtraining Syndrome (OS) has been linked with adrenal insufficiency. There is ...

Hyperbilirubinemia has been presumed to prevent the process of atherogenesis and cancerogenesis mainly by decreasing oxidative stress. Dubin-Johnson syndrome is a rare, autosomal recessive, inherited disorder characterized by biphasic, predominantly conjugated hyperbilirubinemia with no progression to end-stage liver disease. The molecular basis in Dubin-Johnson syndrome is absence or deficiency of ...

Missense mutations affecting membrane-bound transcription factor protease, site 2 (MBTPS2) have been associated with IFAP syndrome with or without BRESHECK syndrome, with keratosis follicularis spinulosa decalvans, and Olmsted syndrome. This metalloprotease activates, by intramembranous trimming in conjunction with the protease MBTPS1, regulatory factors involved in sterol control of transcription and ...

Momordica foetida Schumach. et Thonn. (Cucurbitaceae) is a perennial climbing herb with tendrils, found in swampy areas in Central Uganda. Antidiabetic and antilipogenic activities were reported for some Momordica species, however the mechanism of action is still unknown. Oxidative stress may represent an important pathogenic mechanism in obesity-associated metabolic syndrome. ...

The contents of this review may appear odd. After a brief description of the coxofemoral joint, the entities discussed include ilioinguinal neuropathy within the context of the nerves that may be damaged during lower abdominal surgery, meralgia paresthetica, piriformis syndrome with the appropriate caveats, trochanteric syndrome, "ischial bursitis" and trochanteric ...

To identify associations between high-stress and burnout syndrome in multidisciplinary residents from a federal university in Rio Grande do Sul, Brazil. This is an analytical, cross-sectional and quantitative study. A socio-demographic questionnaire, the Work Stress Scale and the Maslach Burnout Inventory-Health Services Survey (MBI-HSS) were applied to 37 residents between ...

We enjoyed reading the Editorial by Jan Deprests' group from Leuven in Belgium on laser treatment for TTTS. Although we agree on most of their statements, and that there is an obvious room for further improvements, we would like to stress that an inherent problem, when comparing results from different ...

Werner Syndrome (WS) is a human segmental progeria resulting from mutations in a DNA helicase. WS fibroblasts have a shortened replicative capacity, an aged appearance, and activated p38 MAPK, features that can be modulated by inhibition of the p38 pathway. Loss of the WRNp RecQ helicase has been shown to ...

Burning Mouth Syndrome (BMS) is characterized by burning sensation and pain in the mouth with or without inflammatory signs and specific lesions. Aim of the present study was to investigate about a possible correlation between the Burning Mouth Syndrome and oxidative stress. We recruited 18 healthy female patients between 54 ...

The objective of this study is the assessment of the association of burnout syndrome with adrenal exhaustion specific symptoms and signs among 116 patients who were exposed to violence or mobbing at workplace and who were treated during 2005 to 2008 in Department of Occupational Pathology and Toxicology Tuzla; to ...

Apical ballooning syndrome (Takotsubo cardiomyopathy) is an unusual stress-related reversible cardiomyopathy occurring commonly in postmenopausal females. Genetic etiology of this condition is uncertain. A 68-year-old female and her daughter aged 43 got admitted to our institute simultaneously with acute chest pain following demise of one of their close relative. Both ...

Heritable connective tissue diseases comprise a heterogeneous group of multisystemic disorders that are characterized by significant morbidity and mortality. These disorders do not merely result from defects in the amount or structure of one of the components of the extracellular matrix, as the extracellular matrix also serves other functions, including ...

Three cases of acute intermittent porphyria are reported. While in first case severe pain in abdomen with intermittent exacerbation was the only presentation, the second patient presented as accelerated hypertension and acute abdominal crises in whom the clinical course was characterized by development of deep coma due to inappropriate secretion ...

This work aimed at reporting a case of Turner's syndrome with portal vein thrombosis and elevated levels of factor VIII and von Willebrand factor. A 14-year-old Libyan girl was admitted for evaluation of infantilism and pallor; meanwhile, she was found to be of short stature, with webbing of the neck. ...

OBJECTIVES: Fibroblast growth factors consist of receptor tyrosine kinase binding proteins involved in growth, differentiation, and regeneration of a variety of tissues of the head and neck. Their role in the development of teeth has been documented, and their presence in human odontogenic cysts and tumors has previously been investigated. ...

PURPOSE: Studies have suggested that testicular microlithiasis and Down syndrome are linked, yet a correlation remains unclear. We investigated the prevalence of testicular microlithiasis in patients with Down syndrome. We hypothesized that testicular microlithiasis is present at a higher rate in these patients. We further hypothesized that patients with Down ...

Carpal tunnel syndrome is one of the most costly upper extremity disorders in the working population. Past literature has shown an association between personal and work factors to a case definition of carpal tunnel syndrome but little is known about the combined effects of these factors with the development of ...

Cardiovascular disease (CVD) is one of the main causes of mortality in the world representing around 30% of all deaths. It constitutes also an important factor in morbidity and incapacity. There are several related CVD risk factors such as hypertension, metabolic syndrome (MetS) and hypercoagulability. The exact mechanisms that underlie ...

Allostatic load is a commonly used metric of health risk based on the hypothesis that recurrent exposure to environmental demands (e.g., stress) engenders a progressive dysregulation of multiple physiological systems. Prominent indicators of response to environmental challenges, such as stress-related hormones, sympatho-vagal balance, or inflammatory cytokines, comprise primary allostatic mediators. ...

Jaffe-Campanacci's syndrome is a very rare condition and was first described by Jaffe in 1958. It is presented by non-ossifying fibromas, café-au-lait spots and axillar freckling. Non-ossifying fibromas are usually found after minor traumas or stress fractures. Differential diagnosis to neurofibromatosis include the absence of Lisch granules, neurofibromatous skin lesions ...

Primary generalized glucocorticoid resistance (PGGR or Chrousos syndrome) and primary generalized glucocorticoid hypersensitivity (PGGH) are rare genetic disorders characterized by generalized, partial target-tissue insensitivity or hypersensitivity to glucocorticoids, respectively, while also causing compensatory alterations in the activity of the hypothalamic-pituitary-adrenal axis. The molecular basis of Chrousos syndrome and PGGH has ...

Entrapment neuropathy is not uncommon, and surgical treatment is followed by favorite result. Therefore, to obtain an accurate diagnosis based on precise knowledge of the peripheral nervous system is very important. The most popular and useful symptoms and signs of the entrapment neuropathy is paresthesia, dysesthesia and Tinel's like sign ...

Kallmann syndrome (KS) is a genetic disorder characterized by the simultaneous occurrence of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia. Here, we present 3 cases of KS with detailed description. In Case 1, testicular morphology was examined by testicular biopsy, and Leydig cells were examined by immunohistochemistry using antibodies against Ad4BP/SF1. ...

Vandetanib is a once-daily oral anticancer drug that selectively inhibits key signaling pathways in cancer by targeting vascular endothelial growth factor receptors, epidermal growth factor receptors tyrosine kinase, and rearranged during transfection-dependent tumor cell proliferation and survival. The most frequently reported adverse events attributed to vandetanib include diarrhea, elevated aminotransferase, ...

Because of an apparent sexual ambiguity (enlarged clitoris), a 1-year-old mongrel dog was presented to the clinic. A positive result on a GnRH stimulation test revealed the existence of functional testicular tissue. A midline laparotomy was performed, and gonads resembling testes were resected along with the adherent parts of the ...

Persistent Mullerian duct syndrome is a rare form of male pseudohermaphroditism, characterized by the presence of the Mullerian duct structures in an otherwise phenotypically as well as genotypically normal male. We report two cases of males with cryptorchidism, and seminoma in the undescended abdominal testis along with Mullerian duct derivatives ...

Intrascrotal extratesticular neurofibromas (IEN) often originate from genitofemoral nerve (GFN) and present as a paratesticular mass. Synchronous presence of IEN and undescended testis has not been reported previously. A 12-year-old boy with neurocutaneous syndrome and congenital giant melanocytic nevi along with IEN and ipsilateral undescended testis is presented, to discuss ...

Objective. To evaluate the maturity of the peripheral vestibular system in Down syndrome by examining the number of Scarpa's ganglion cells and the density of vestibular hair cells. Study Design. Case-control study using human temporal bones. Setting. Tertiary academic center, otopathology laboratory. Subjects and Methods. Sixteen temporal bones from 8 ...

Superior semicircular canal dehiscence syndrome (SSCDS) is a set of symptoms, related to vestibular and/or auditory, which dues to a dehiscence of bone at the superior semicircular canal. We reported an extremely rare case with idiopathic bony dehiscence at the lateral semicircular canal, which presents the similar symptoms with SSCDS, ...

Richieri-Costa/Guion-Almeida syndrome type 1 (RCGAS1) is a rare MR/MCA syndrome comprising developmental and growth delay, microcephaly, prominent supraorbital ridges, asymmetric ptosis and eyebrows, esotropia, nystagmus, eye colobomas, and cleft lip/palate. It was originally described in three brothers and an additional sporadic male. The same authors also described a further family ...

Richieri-Costa/Guion-Almeida syndrome type 1 (RCGAS1) is a rare MR/MCA syndrome comprising developmental and growth delay, microcephaly, prominent supraorbital ridges, asymmetric ptosis and eyebrows, esotropia, nystagmus, eye colobomas, and cleft lip/palate. It was originally described in three brothers and an additional sporadic male. The same authors also described a further family ...

Semicircular canal dehiscence (SCD) syndrome is rare, and its diagnosis is a significant challenge in clinical practice. Our aim was to explore application of the loud sound stimulation test for diagnosing SCD syndrome. Eight cases of superior semicircular canal dehiscence (SSCD), among them two patients had bilateral dehiscences and one ...

There have been several case reports of risperidone-associated dysphagia. Risperidone-induced bulbar palsy-like syndrome has not been previously described. We report on a 58-year-old gentleman with prior history of schizophrenia and remote chlorpromazine use with no history of extrapyramidal symptoms who experienced acute onset of dysphagia and facial diplegia with hyperprolactinemia ...

CLOVES syndrome is a recently described overgrowth disorder with complex vascular anomalies. Careful analysis of the case report by the German physician Hermann Friedberg "gigantism of the right lower limb" published in 1867 revealed that the report probably represents one of the first written accounts of CLOVES syndrome.

Goodpasture's syndrome is an autoimmune disease that has rarely been described in children, and only 21 cases have been reported till now. Here is a case of a 9-year-old boy who was diagnosed to have Goodpasture's syndrome.

Hypoglossia-hypodactyly syndrome is characterised by small tongue associated with limb deficiency. It is an extremely rare condition with around 30 cases reported in world literature. We report a case of hypoglossia-hypodactyly syndrome that in addition to features already described also had supernumerary nipples, microcephaly and micropenis with cryptorchidism. Hypodactyly was ...

ABSTRACT Total absence of ribs is a rare finding that has occasionally been documented in patients with cerebrocostomandibular syndrome. Only 2 other reports document complete absence of ribs in 3 individuals, and we tabulate the findings of all the 4 cases of complete absence of ribs in this case report. ...

To describe a case of Goldenhar syndrome in a couple receiving donated oocytes in an 'egg sharing' IVF cycle where the recipient of donor oocytes had Turner syndrome, hypothyroidism and gestational diabetes. Case report Child born to oocyte recipient with Goldenhar syndrome We believe this is the first reported case ...

We report a case of compartmental syndrome of the left upper limb secondary to a severe Moraxella lacunata infection, an unusual pathogen, occurring in a young black male immigrant to the island of Gran Canaria, Spain. We propose a pathophysiological relationship with patera foot syndrome.

In 2006, a US Food and Drug Administration (FDA) alert warned about the potential life-threatening risk of serotonin syndrome when triptans are used in combination with selective serotonin reuptake inhibitors (SSRIs) or selective serotonin/norepinephrine reuptake inhibitors (SNRIs). This American Headache Society Position Paper further reviews the available evidence of the ...

Non-steroidal anti-inflammatory drugs are commonly prescribed in dental practice after minor oral surgical procedures such as tooth extraction. Diclofenac sodium is one of the non-steroidal anti-inflammatory drugs widely used for pain relief in dentistry. Although adverse reactions to these drugs are rare, at times they can cause a life-threatening phenomenon. ...

INTRODUCTION: Optic neuromyelitis or Devic's syndrome is a very rare disease affecting the optic tracts and the spinal cord. Its association with evolving pulmonary tuberculosis has been reported in a handful of case reports. CASE REPORT: The authors report two cases of Devic's syndrome associated pulmonary tuberculosis (48 and 43 ...

We report the case of a woman with Münchausen syndrome who surreptitiously injected epinephrine causing recurrent ventricular tachyarrhythmias accompanied by dramatically high plasma levels of epinephrine and normal norepinephrine levels.

Evans syndrome is an autoimmune disorder characterized by the simultaneous or sequential development of autoimmune hemolytic anemia and immune thrombocytopenia. It may be primary (idiopathic, or associated with other diseases. First line therapy is immunosupression. A second line therapy includes danazol and splenectomy. Rituximab was approved by the Federal Drug ...

Orofaciodigital (OFD) syndrome is a generic name for a variety of different but possibly related genetic disorders that result in malformations of the mouth, teeth, jaw, facial bones, hands, and feet and are therefore categorized as oroacral disorders. Nine subtypes of OFD syndromes have been identified. OFD type V is ...