Flow cytometry (FC) is increasingly recognized as an important tool in the diagnosis and prognosis of myelodysplastic syndromes (MDS). However, validation of current assays and agreement upon the techniques are prerequisites for its widespread acceptance and application in clinical practice. Therefore, a working group was initiated (Amsterdam, 2008) to discuss ...

Craniosynostosis is when cranial sutures fuse prematurely. It causes cosmetic deformity and may limit brain growth with more serious consequences, such as hydrocephalus. It may involve one or more sutures, may be syndromic, and is thought most likely to result from genetic causes. Specific sutural closures result in reproducible cranial ...

The management of newborns with hypoplastic left heart syndrome has changed significantly over the past three decades, with an associated dramatic improvement in outcomes. The aim of this paper is to discuss current peri-operative and palliative surgical strategies. Owing to the fact that comparative outcomes for these strategies have been ...

Postthrombotic syndrome (PTS) is a late outcome of deep vein thrombosis characterized by cramping pain, swelling, hyperpigmentation, eczema, lipodermatosclerosis, and ulceration in the leg due to increased venous outflow resistance and reflux venous flow. Newer surgical and endovascular interventions have a promising result in the management of postthrombotic syndrome. Early ...

Tarsal tunnel syndrome, unlike its similar sounding counterpart in the hand, is a significantly misunderstood clinical entity. Confusion concerning the anatomy involved, the presenting symptomatology, the appropriateness and significance of various diagnostic tests, conservative and surgical management, and, finally, the variability of reported results of surgical intervention attests to the ...

The purpose of this study was to evaluate the dentomaxillofacial imaging features of one family affected by the gingival fibromatosis (GF) and dental abnormalities (DA) syndrome. Conventional radiographs (periapical and panoramic) and cone beam CT (CBCT) were performed in nine members of this family: four were affected by the syndrome ...

Treatment for patients with craniofacial anomalies always presents a great challenge to orthodontists. Treatment usually requires both comprehensive orthodontic treatment and orthognathic surgery. In this article, we report on a patient with Pfeiffer's syndrome treated by midfacial distraction and comprehensive orthodontics.

Orofacial manifestations of Van der Woude syndrome (VWS) include cleft lip or palate, lower lip pits, hypodontia, hypernasal voice, cleft or bifid uvula, syngnathia, narrow high arched palate, and ankyloglossia. Extraoral manifestations include limb anomalies, popliteal webs, accessory nipples, congenital heart defects, and Hirschsprung disease. We report an interesting case ...

Many surgical options have been described to treat various aspects of canine brachycephalic airway syndrome (BAS). This article describes the surgical management, postoperative care, and prognosis of this condition. The pathophysiology and medical therapy of BAS are described in a companion article.

The aim of this case is to present a case of a two month old female with congenital nephritic syndrome, which is very rare. On admission, the baby showed marked edema and distended abdomen. She was diagnosed and treated with daily albumin infusions, antibiotics, diuretic, gamma globulin replacement, ACEI and ...

For patients who have Eisenmenger syndrome (ES), perioperative risks are high even for noncardiac surgery, such as dental extractions. We report on the case history of a 38-year-old male patient with Down syndrome (DS), intellectual disability (ID), and ES. The patient was scheduled for extraction of the right maxillary second ...

Abstract We studied orthognathic correction of dentofacial deformities in patients with craniofacial syndromes (Crouzon, Apert, and Treacher Collins) during a 5-year period. The number of patients treated within this time period was 17 with Crouzon syndrome, 12 with Apert syndrome, and six with Treacher Collins syndrome. Individual follow-up was 2.5 ...

In this study, we report on the clinical maxillary manifestations of a patient affected by McCune-Albright syndrome and the implications for orthodontic therapy. A male, 8-year-old patient was examined at the Department of Orthodontics of the University of L'Aquila for a problem of anterior open-bite. In the clinical examination, a ...

Listening and paying attention to our patients is crucial for understanding a disease. A good example is Immediate Contact Skin Reactions (ICSR) which manifest as Contact Urticaria Syndrome (CUS), Contact Urticaria (CU) and Protein Contact Dermatitis (PCD). These entities are characterized by the immediate skin development of itchy flares, wheals, ...

Ortner syndrome is a rare cause of hoarseness, resulting from compression of the left recurrent laryngeal nerve by a cardiovascular etiology. It was initially described secondary to left atrial enlargement and mitral valve disease. Other causes have now been recently described. We present a case of Ortner syndrome caused by ...

The watery diarrhoea, hypokalaemia and achlorhydria syndrome is a rare cause of secretory diarrhoea. In this case report, we highlight a young female with watery diarrhoea, hypokalaemia and achlorhydria syndrome as a consequence of a vasoactive intestinal peptide producing composite adrenal phaeochromocytoma-ganglioneuroma. She made a complete recovery after curative surgical ...

Carpal tunnel syndrome is a common disorder responsible for considerable patient suffering and cost to health services. Despite extensive research, controversies still exist with regards to best practice in diagnosis, treatment, and service provision. Current best practise would support the use of history, examination and electro-diagnostic studies. The role for ...

Paget-Schroetter syndrome is an uncommon cause of pulmonary thromboembolic disease that should be suspected in young patients in whom effort-related subclavian vein thrombosis should be investigated. Our case illustrates the pivotal role of imaging and the different modalities available to establish such a diagnosis.

Cytotoxicity of drugs can be a cause of cardiorespiratory disorders connected with chemotherapy. Doxorubicin is an antibiotic from the group of anthracyclines effective in antineoplastic therapy of solid and hematopoetic tumors. The most common cause of therapy ceasing is its cardiotoxicity. However, a lung injury connected with its cytotoxic activity ...

White-nose syndrome (WNS) is causing unprecedented declines in several species of North American bats. The characteristic lesions of WNS are caused by the fungus Geomyces destructans, which erodes and replaces the living skin of bats while they hibernate. It is unknown how this infection kills the bats. We review here ...

Leigh's disease is a rare progressive neurodegenerative condition caused by a mitochondrial cytopathy. The authors present the case of a 9-year-old girl with dorsal midbrain syndrome causing convergence retraction nystagmus. Magnetic resonance imaging, skin biopsy, and genetic testing confirmed the cause to be Leigh's disease due to two SURF1 mutations. ...

We present a patient with a rare cause of ectopic ACTH-dependent Cushing's syndrome, caused by a pheochromocytoma. The case provides clues for a detailed discussion on the pitfalls and diagnostic difficulties in establishing the correct underlying cause of ACTH-dependent Cushing's syndrome. It clearly demonstrates that the relative contributions of clinical, ...

PURPOSE OF REVIEW: Cushing's syndrome is being recognized with greater frequency and in patients with milder disease. Many of these individuals have nonpituitary causes of their hypercortisolism. This review discusses the classification, presentation, diagnosis, and therapy of patients with Cushing's syndrome from nonpituitary causes. RECENT FINDINGS: Many previously unrecognized or ...

Mild hypokalemia is common and encountered in a multitude of diseases, but severe hypokalemia leading to rhabdomyolysis is relatively rare. The watery diarrhea, hypokalemia, achlorhydria (WDHA) syndrome caused by vasoactive intestinal polypeptide (VIP)-producing tumors, is an extremely rare cause of hypokalemic rhabdomyolysis and the literature is limited to one case ...

The baboon syndrome is a form of systemic contact dermatitis with skin eruptions in the area of the buttocks and major flexures. Inhalation of mercury vapor causes this rare but distinctive eruption. Broken thermometers are the usual sources of exposure. We hereby present a 14-year-old boy diagnosed with baboon syndrome ...

The original description of the Foster Kennedy syndrome included the clinical triad of optic disc pallor in one eye, optic disc edema in the other eye, and reduced olfaction caused by space-occupying anterior fossa masses. The optic disc pallor was attributed to direct compression of the intracranial optic nerve, the ...

Erlotinib is an epidermal growth factor receptor tyrosine kinase inhibitor that is responsible for several cutaneous side effects. We report a case of hand-foot syndrome associated with a papulo-pustular and seborrheic dermatitis-like eruption of the face in a 61-year-old patient treated with erlotinib for lung cancer.

We describe three patients with pre-ganglionic (avulsion) injuries of the brachial plexus which caused a partial Brown-Séquard syndrome.

The bony anatomy of the hip leads to a limited array of impingement syndromes, more frequently resulting from abnormal contact between the femoral neck and acetabulum. We report an unusual case of osseous impingement between the lesser trochanter and ischium, with involvement of the intervening quadratus femoris muscle. While the ...

Dobrava-Belgrade virus (DOBV) is a European hantavirus that causes hemorrhagic fever with renal syndrome (HFRS); case-fatality rates in Balkan countries are as high as 12%. To determine causative agents, we examined 126 cases of DOBV-associated HFRS in central and southern European Russia. In central Russia (Lipetsk, Voronezh, Orel regions), outbreaks ...

Lemierre syndrome is a rare clinical entity, characterized by thrombosis of the internal jugular vein that develops after an oropharyngeal infection. We report the case of a 22-year-old woman hospitalized initially for cellulitis of the face. In view of the aggravation of the clinical state (septic shock and multiple organ ...

We present a 21-year-old woman with an oculogyric crisis following the administration of clebopride. Based on the temporal relationship of the administration of clebopride to the occurrence of the event and the absence of other possible etiologies, clebopride is implicated as the cause of this acute oculogyric crisis, despite the ...

A combination of ARVC and RV NVM/HVM, which is extremely rare, to our knowledge, is never reported. RV NVM/HVM could be the cause and consequence of ARVC, or RV NVM/HVM and ARVC could be a consequence of a certain undetermined cause. It must be kept in mind, however, that the ...

Thesis (Ph. D. in Medical Sciences)--University of Tsukuba, (A), no. 3812, 2005.3.25

Pseudomembranous colitis is most often associated with antibiotic use and caused most often by Clostridium difficile. Aclinical syndrome and pathology that is identical can be caused rarely by other organisms. We report a case of Salmonella enterica pseudomembranous colitis and briefly review the literature regarding rare causes of this syndrome.

Using morphological characters, cultural characters, large subunit and internal transcribed spacer rDNA (ITS) sequences, and provisions of the International Code of Botanical Nomenclature, this paper attempts to resolve the taxonomic and nomenclatural confusion surrounding three species of cladosporium-like hyphomycetes. The type specimen of Hormodendrum resinae, the basis for the use ...

Hutchinson-Gilford progeria syndrome (HGPS) is caused by a LMNA mutation that leads to the synthesis of a mutant prelamin A that is farnesylated but cannot be further processed to mature lamin A. A more severe progeroid disorder, restrictive dermopathy (RD), is caused by the loss of the prelamin A-processing enzyme, ...

Apical bronchial carcinoma is the most common cause of Pancoast's syndrome. Of the many other causes reported, infection is a rare one. A literature review is presented and a case of Pancoast's syndrome, secondary to apical lung pneumonia with bronchocutaneous fistulisation caused by Staphylococcus aureus infection, is reported. Clinical and ...

The seas and oceans around Australia harbour numerous venomous jellyfish. Chironex fleckeri, the box jellyfish, is the most lethal causing rapid cardiorespiratory depression and although its venom has been characterised, its toxins remain to be identified. A moderately effective antivenom exists which is also partially effective against another chirodropid, Chiropsalmus ...

Sciatica is characterized by radiating pain from the sacro-lumbar region to the buttocks and down to the lower limb. The causes of sciatica usually relate to degenerative changes in the spine and lesions to the intervertebral discs. Secondary symptomatic sciatica may by caused by metastases to the vertebra, tuberculosis of ...

Postweaning multisystemic wasting syndrome (PMWS) is a worldwide emerging disease of weaned piglets. The objective of this review is to summarize the current knowledge regarding PMWS, its causative agent, mode of transmission, diagnostic techniques to detect PCV-2, the possible control measures, and the association of PMWS and PCV-2 with porcine ...

A local outbreak of Shiga toxin (Stx)-producing enterohemorrhagic Escherichia coli (EHEC) O157:H7 causing severe hemolytic-uremic syndrome (HUS) was found to be caused by environmental transmission. Automated ribotyping and pulsed-field gel electrophoresis revealed that four stx2-positive EHEC isolates obtained from two unrelated children, one mother and one cow were identical. Results ...

Human herpesvirus 6 (HHV-6), the causative agent of exanthema subitum in childhood, can also induce meningoencephalitis in immunocompromised individuals. In contrast, HHV-6 encephalitis in immunocompetent patients is rare, and the clinical syndrome not well defined. We report a case of meningoencephalitis caused by HHV-6 type B in an otherwise healthy ...

Acute urethritis and arthritis-dermatitis syndrome after sexual contact are often assumed to be caused by Neisseria gonorrhoeae. We report a case of arthritis-dermatitis syndrome in a 32-year-old man who presented with generalized maculopapular and petechial skin lesions and polyarthritis. Acute urethritis developed 1 week after oro-genital sexual contact with a ...

We compared pollen removal and deposition by hummingbirds and bumblebees visiting bird-syndrome Penstemon barbatus and bee-syndrome P. strictus flowers. One model for evolutionary shifts from bee pollination to bird pollination has assumed that, mostly due to grooming, pollen on bee bodies quickly becomes unavailable for transfer to stigmas, whereas pollen ...

Whether caused by environmental factors, lesions, genetic mutations, drug interactions, or unknown origins, the path of the central causes of hypogonadism frequently leads back to the GnRH pulse generator. In some cases, the cause can be unequivocally traced to a single factor, such as some of the congenital syndromes previously ...

Interest in envenoming syndromes caused by Australian jellyfish has been intense since the deaths in early 2002 of two tourists in Queensland, attributed to the Irukandji syndrome. We review current knowledge of these envenoming syndromes, mechanisms of venom action and therapy, focusing on the deadly box jellyfish, Chironex fleckeri, and ...

The "baboon syndrome" is a rare variant of systemic contact dermatitis and is characterized by general exanthema with particular involvement of buttocks and flexures. Here we present a 25-year-old female with contact allergy to nickel, who developed baboon syndrome after systemic administration of this allergen.

This report describes the antemortem diagnosis and antemortem and postmortem findings of superficial necrolytic dermatitis with hepatopathy (i.e., hepatocutaneous syndrome) in a cat. A 5-year-old Maine coon was evaluated because of a history of pruritic alopecia and liver enzyme elevations. Abdominal ultrasonography revealed a reticular pattern to the hepatic parenchyma. ...

Anaphylaxis is a life-threatening syndrome resulting from the sudden release of mast cell- and basophil-derived mediators into the circulation. Foods and medications cause most anaphylaxis for which a cause can be identified, but virtually any agent capable of directly or indirectly activating mast cells or basophils can cause this syndrome. ...