Unusual Disorder Research Articles

Platelet signaling–A primer

To review the receptors and signal transduction pathways involved in platelet plug formation and to highlight links between platelets, leukocytes, endothelium, and the coagulation system. Original studies, review articles, and book chapters in the human and veterinary medical fields. Platelets express numerous surface receptors. Critical among these are glycoprotein VI, the glycoprotein Ib-IX-V complex, integrin α(IIb) β(3) , and the G-protein-coupled receptors for thrombin, ADP, and thromboxane. Activation of these receptors leads to various important functional events, in particular activation of the principal adhesion receptor α(IIb) β(3) . Integrin activation allows binding of ligands such as fibrinogen, mediating platelet-platelet interaction in the process of aggregation. Signals activated by these receptors also couple to 3 other important functional events, secretion of granule contents, change in cell shape through cytoskeletal rearrangement, and procoagulant membrane expression. These processes generate a stable thrombus to limit blood loss and promote restoration of endothelial integrity. Improvements in our understanding of how platelets operate through their signaling networks are critical for diagnosis of unusual primary hemostatic disorders and for rational antithrombotic drug design.

Realignment osteotomies in the treatment of chronic instabilities of the knee associated with malalignment (case report)

INTRODUCTIONChronic knee instabilities associated with malalignment are complex and unusual disorders with various treatment modalities. PRESENTATION OF CASEWe describe two cases of chronic instability of the knee with malalignment. Furthermore, we describe realignment osteotomies as the treatment of chronic instabilities for these cases. DISCUSSIONIn the literature review, there are few cases of chronic instabilities treated by realignment osteotomy. Only soft tissue procedures are not enough to treat the chronic instability of the knee with limb malalignment. CONCLUSIONDeformity analysis with good preoperative planning and then realignment of the lower extremity, lead to better results and will preserve the joint from instability.

Optical and Structural Characterization of TiO2 Nanoparticles

Nanostructured metal oxides are gradually being interesting for their remarkable properties and mechanical fields. Many methods have been used for the preparation of nanostructured metal oxides. Here we report the synthesis of TiO2 nanoparticles by anodization method at the same time optical and structural characterization was also conducted. Anodization is an electrolytic passivation process used to increase the thickness of the natural oxide layer on the surface of metal parts. Anodization was carried out using a two- electrode configuration. The close packed titanium was attached to a copper rod to form the working electrode. The titanium rod was protected by a non-conductive epoxy in order to avoid being anodized in the electrolyte. A platinum sheet (2.0×1.5cm 2 ) connected to a copper wire was used as the counter-electrode. Anodization was conducted in 0.5ml HF with (50ml distilled water) and 0.5ml glycerol in (50 ml distilled water) with potentials ranging from (3-10) V for 2 hours at room temperature. Anodization changes the microscopic texture of the surface and changes the crystal structure of the metal near the surface. Ultraviolet-Visible Spectroscopy (UV- Vis) and X-Ray Diffraction (XRD) were carried out to characterize the optical and structural properties of the synthesized samples respectively. Optical absorbance study in the photon wavelength range between 300 and 600 nm reveals that strong absorbance peak is positioned around 423 nm (2.93ev) whereas visible energy band is almost transparent for the materials. Based on X-ray Diffraction, TiO2 nanparticles grown through anodization are amorphous. Interestingly, very small nanoparticles below 5 nm, have been shown using Stokes- Einstein equation to have unusual structural disorder that can substantially modify the properties of nanoparticles.

Hypocalcified autosomal recessive amelogenesis imperfecta—A case report

Amelogenesis imperfecta is an unusual hereditory disorder affecting both primary and permanent dentition. We present a rare case of hypocalcified auto-somal recessive amelogenesis imperfecta occuring in primary dentition in a 7-year-old girl with a family history of consanguineous marriage. Clinical and radiological examination revealed discoloration and hypoplasia of enamel with easy chipping affecting both maxillary and mandibular dentition.

Good Response to Cyclosporin in a Child with Acquired Thrombocytopenic Purpura

Acquired amegakaryocytic thrombocytopenia is an unusual hematological disorder characterized by thrombocytopenia along with markedly diminished megakaryocytes in the bone marrow. There is no uniform consensus on the treatment and the case reports in pediatric age group are few. The authors report a child with this condition who responded to cyclosporine alone.

Graves'-Like Orbitopathy in a Patient with Chronic Autoimmune Pancreatitis

Graves' orbitopathy is an inflammatory orbital disease that represents the commonest extrathyroidal manifestation of Graves' disease. Autoimmune pancreatitis (AIP) is a rare inflammatory disease characterized by prominent lymphocytic infiltration and fibrosis of the pancreas causing organ dysfunction. This report provides the first clinical description of severe Graves'-like orbitopathy occurring in association with AIP. Although there was no clear evidence of autoimmune thyroid disease or dysfunction in our patient, the clinical course of his orbitopathy was related to that of AIP, the relapses of orbital inflammation being temporally coincident. Our data suggest that shared autoantigens between the pancreas and the orbit might be responsible for the unusual disorder observed in our patient.

Saurian papulosis: A new clinicopathological entity

Epidermal keratinization disorders comprise a heterogeneous group of skin diseases that share the common feature of abnormal epidermal maturation, often leading to a disturbed stratum corneum. To describe two cases of an unusual disorder of epidermal keratinization. The clinical features of two unrelated patients with a long-standing widespread cutaneous eruption are described. Histopathologic examination and immunohistochemical studies were performed on skin biopsy specimens. The eruption was characterized by symmetric erythematous, flat, discrete papules with a polygonal shape and fine scaling. The papules covered most of the skin surface and, in some areas of the trunk, they were arranged along the lines of cleavage, parallel to the ribs. There was no facial, mucosal, nail, or palmoplantar involvement; the teeth and hair were normal. The first patient had a sister with an identical eruption, and a brother of the second patient was said to have similar skin lesions. Histopathology revealed well-demarcated areas of compact eosinophilic orthokeratotic hyperkeratosis overlying a slightly acanthotic epidermis. Lesional skin showed weaker immunoexpression for connexin 43 compared with normal skin. Only two patients and one sibling were investigated. We propose the name "saurian papulosis" to describe this newly described clinicopathologic entity.

An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech

The purpose of the study was to identify and molecularly characterize a neurological syndrome in a consanguineous Pakistani family. Five patients, their 2 siblings, and their parents were clinically examined. DNA from all 7 siblings was genotyped with Affymetrix SNP arrays and sequencing of selected candidate genes. An unusual neurological syndrome of crawling gait, predominant leg dystonia, pyramidal signs, microcephaly, and suspected deafness segregated in the family. Three patients ambulated on hands and knees, either by hopping and crossing their legs, or by dragging the legs behind them. Two patients have acquired the ability to walk bipedally with a dystonic gait. Unexpectedly, no chromosomal region was homozygous in patients only. Under different disease models, we localized 7 chromosomal regions in the genome common to all patients. No pathogenic mutations were identified in selected candidate genes or the mitochondrial genome. We describe an unusual movement disorder syndrome reminiscent of but distinct from Uner Tan syndrome.

Synthesis and X-ray structure of an octahedral platinum–silver cluster [(Ph 3P) 2N] 2[Pt 2Ag 4Cl 2(C 2Ph) 8] with disordered silver atoms

Variable-temperature X-ray structural study of the complex [(Ph 3P) 2N] 2[Pt 2Ag 4Cl 2(C 2Ph) 8] prepared by the reaction of cis-[PtCl 2(AsPh 3) 2] and [(Ph 3P) 2N][Ag(C 2Ph) 2] in 1:2 M ratio, revealed isolated (non-polymerised) [Pt 2Ag 4Cl 2(C CPh) 8] 2− anions with a pseudo-octahedral arrangement of metal atoms. The Pt atoms (in mutually trans vertices) are each σ-bonded to four alkynyl ligands in a square planar arrangement; these moieties are bridged by four Ag atoms; each silver atom being η 2-bonded to two alkynyl groups. Chloride ligands are asymmetrically bridging two opposite Ag–Ag edges. Silver atoms show strong and unusual temperature-dependent disorder.

Angioid streaks leading to the discovery of a new mutation in pseudoxanthoma elasticum

AbstractPurpose Discovery of angioid streaks can lead to the diagnosis of pseudoxanthoma elasticum (PXE), an unusual autosomal recessive genetic disorder. We report a new functional pathogenic mutation associated to phenotypic manifestations of the disease.Methods A 35‐year old female was admitted for an etiologic work‐up of a diffuse juvenile arteriopathy. Fundus examination evidenced typical peripapillary angioid streaks that led to the diagnosis of PXE, confirmed by genetic analysis of the ABCC6 gene. Our patient was compound heterozygote for two heterozygous mutations: one at exon 24 (c.3421C>T, R1141X), the other at exon 17 (c.2153A>G, D718G) not described before. Among her siblings, her brother and one sister were compound heterozygotes for the two mutations and had vascular symptoms and angioid streaks as well. Her mother was heterozygous for the D718G mutation while her father was heterozygous for the R1141X mutation. Both were asymptomatic.Results ABCC6 gene implication in PXE was first described in 2000. Pathological mutations are mostly located from exons 23 to 29. The R1141X mutation is already known to be associated with a strong increase in the prevalence of coronary artery disease. Our results highlight that the D718G mutation is functional and may have a pathogenic role mainly due to its segregation with the disease and genetic arguments (Grantham’s distance, damaging role related in the Polyphen tool online).Conclusion Diagnosis of angioid streaks can lead to the diagnosis of PXE confirmed by genetic analysis. Examination of our patients allowed us to describe for the first time a new mutation of the ABCC6 gene (D718G), associated with the classical and recurrent R1141X mutation and with phenotypic manifestations of PXE.

P1-292 Association between stress, personality traits and sleep bruxism in children: a population-based case-control study

IntroductionSleep bruxism is an unusual orofacial disorder affecting both children and adults. Its consequences include temporomandibular disorder, muscle pain, periodontal problems, tooth wear and tooth loss. Its aetiology remains unclear,...

Efeitos colaterais cutâneos após uso prolongado de hidroxiuréia na Policitemia Vera

Hydroxyurea is an hydroxylated urea derivative used in many myeloproliferative disorders. Many, but unusual cutaneous disorders are related after its prolonged use. Their pathogenesis is not clear, but it is suggested that there is direct toxicity of the drug on the skin. We described a white, 75-year old man with diagnosis of Polycythemia Vera that in 11 years of treatment developed many cutaneous lesions: skin hyperpigmentation, atrophic lesions on forearms, longitudinal melanonychia of 20 nails, right forearm ulcer, cutaneous xerosis, ichthyosis and auricular spinocellular carcinoma. At this moment, the literature reports describe little diversity of lesions in affected patients.

Oral low-dose tacrolimus therapy for refractory hemophagocytic syndrome associated with systemic lupus erythematosus

Hemophagocytic syndrome (HPS) is an unusual disorder associated with systemic lupus erythematosus (SLE). A 64-year-old woman was admitted because of fever and urticarial vasculitis. Laboratory data revealed pancytopenia and immunological abnormalities, suggesting elevated disease activity. Prednisolone monotherapy failed to improve the pancytopenia despite the amelioration of other clinical findings. Because her condition was suggestive of HPS, tacrolimus at 2-3 mg/day was added to the prednisolone regimen. Eventually, the pancytopenia improved and prednisolone could be effectively tapered. Tacrolimus could be an additional or alternative modality for treating refractory HPS.

Elephantine but not Elephantiasis: Subcutaneous zygomycosis

Subcutaneous zygomycosis is an unusual disorder caused by a rare fungus, Basidiobolus ranarum. We report this entity in a 4- yr- old boy. Biopsy showed the Splendore Hoeppli phenomenon and the culture yielded Basidiobolus ranarum. The child responded to saturated solution of potassium iodide within 1 month of starting treatment.

“Seeing but not identifying”: pure alexia coincident with prosopagnosia in occipital arteriovenous malformation

Pure alexia and prosopagnosia are two separate and uncommon disorders of visual recognition in neuro-ophthalmology. We report an extremely rare case of pure alexia coincident with prosopagnosia secondary to occipital arteriovenous malformation. The manifestations of these two visual recognition disorders are also described. A 35-year-old, left-handed women had suffered from severe blurred vision when recognizing her family's faces and was unable to read or associate separate parts of a word into a whole word. Her visual field revealed slight right homonymous hemianopia. Computed tomography scans and magnetic resonance images were arranged and vertebral angiography confirmed the diagnosis of left occipital arteriovenous malformation. Gamma-knife stereoscopic radiotherapy was performed. Two months after the treatment, the ability to recognize faces and read improved and the visual field recovered. Ophthalmologists should keep in mind that usual complaints of "blurred vision" might correlate with unusual visual recognition disorders. Pure alexia and prosopagnosia have not been reported to occur together and the left-handed- dominance in our case leads to this scarce concurrence.

A Case of Pachydermodactyly

Pachydermodactyly (PDD) is a rare, benign form of digital fibromatosis and this is characterized by asymptomatic soft tissue swelling that affects the lateral aspects of the proximal interphalangeal (PIP) joints of the fingers. Although the etiology of PDD is unknown, the possibility of repetitive minor trauma by habitual or compulsive habits of interlacing the fingers or rubbing of the fingers has been suggested as a cause by several authors. We experienced a 14-year-old boy who was diagnosed as having PDD by the clinical manifestations and this was supported by a radiological study and the routine laboratory tests. He also had the habit of repetitively manipulating his hands when feeling emotional distress. PDD sometimes can be misdiagnosed as a rheumatic condition. Although an unusual disorder, PDD should be considered in the differential diagnosis of patients who present with digital bulbous swelling.

Identification of a Novel Mutation in the PTCH Gene in a Patient with Gorlin-Goltz Syndrome with Unusual Ocular Disorders

To document the clinical, functional, and in vivo microanatomic characteristics of a patient with Gorlin-Goltz syndrome with a novel nonsense mutation in PTCH (patched). Optical coherence tomography (OCT), fluorescein angiography, electrophysiologic testing, visual field, magnetic resonance imaging, and mutation screening of PTCH gene. Visual acuity was 20/20 in the right eye and 20/25 in the left. Fundus examination revealed myelinated nerve fibers in the left eye and bilateral epiretinal membranes with lamellar macular hole also documented with macular OCT. A reduction of the retinal nerve fiber layers in both eyes was found with fiber nervous OCT. Fluorescein angiography showed bilaterally foveal hyperfluorescence and the visual field revealed inferior hemianopia in the right eye. Pattern visual evoked potentials registered a reduction of amplitude in both eyes and latency was delayed in the left eye. Pattern electroretinogram showed a reduction in P50 and N95 peak time and a delay in P50 peak time in the left eye. Flash electroretinogram was reduced in rod response, maximal response, and oscillatory potentials in both eyes. Cone response was normal and 30-Hz flicker was slightly reduced in both eyes. Mutation screening identified a novel nonsense mutation in PTCH. A novel nonsense mutation in the PTCH gene was found. We report the occurrence of epiretinal membranes and the persistence of myelinated nerve fibers. Electrophysiologic and visual field alterations, supporting a neuroretinal dysfunction, were also documented.

Three unusual mimics of primary angiitis of the central nervous system

To present three rare mimics of primary angiitis of the central nervous system (PACNS). We describe 3 patients with rare diseases that can mimic PACNS at clinical presentation and neuroimaging. We describe the clinical course of these patients and also present a review of the literature regarding these three diagnoses. All 3 patients presented with neurological symptoms and had abnormal findings on neuroimaging suggestive of PACNS. After detailed history, careful review of systems, thorough laboratory workup and consideration of lack of a response to immunosuppressive therapy, PACNS was ruled out with identification of an alternative diagnosis. PACNS is a rare disease and a diagnostic challenge with many differentials. A thorough investigation and awareness of unusual disorders is critical in avoiding misdiagnosis.

Moyamoya Disease Associated With Hereditary Spherocytosis

A 5-year-old girl with hereditary spherocytosis presented with two episodes of transient ischemic attacks within a month. Cranial magnetic resonance imaging angiography revealed a left internal carotid artery and middle cerebral artery stenosis, with an extensive vascular mesh in the thalamic area indicative of moyamoya disease. Treatment consisted of supporting cerebral perfusion with blood transfusions, and splenectomy to prevent recurrence. Moyamoya disease is a very unusual cerebrovascular disorder in childhood and its association with hereditary spherocytosis is rarely reported.

Antley–Bixler-Syndrome – Staged management of craniofacial malformations from birth to adolescence – A case report

In 1975 Antley and Bixler described an unusual syndromal disorder consisting of complex craniosynostosis with midfacial hypoplasia, dysplasia of ears and nose, radiohumeral synostosis, congenital fractures of the femur and upper airway impairment in a newborn. Additional urogenital and cardiac malformations can be associated however diagnosis is based on a characteristic craniofacial deformity in association with humeroradial synostosis. Complex disturbance of craniofacial growth due to premature synostoses of the cranial base and vault results in a characteristic phenotype. Steroidogenesis due to intrinsic or extrinsic disturbance by maternal fluconazole ingestion during early pregnancy may be impaired. The mode of inheritance is supposed to be autosomal recessive. Mutations in the fibroblast growth factor receptor 2 (FGFR2) as well as mutations in the cytochrome P450 oxidoreductase (OR) gene have been verified. Like in other craniofacial dysostosis syndromes malformation of neuro- and viscerocranium is complex and requires a staged age- and growth-related interdisciplinary management with respect to the individual situation. This case report of a female patient born in 1994 suffering from that rare syndrome describes the interdisciplinary long-term management in one craniofacial centre over 16 years from birth to adolescence.