Clinical and pathologic features of patients with non-epithelial ovarian cancer: retrospective analysis of a single institution 15-year experience.

Clin Transl Oncol. 2016 May 18;

Authors: Kempf E, Desamericq G, Vieites B, Diaz-Padilla I, Calvo E, Estevez P, Garcia-Arreza A, Martinez-Maestre MA, Duran I

Abstract
PURPOSE: Non-epithelial ovarian cancers (NEOCs) are rare diseases. Despite their overall good prognosis, the best management and current prognostic factors remain unclear. The objective of our study was to assess the clinical and pathological features of NEOC patients treated in our institution in the last 15 years and to explore risk factors for relapse and survival.
METHODS/PATIENTS: All patients with a pathological diagnosis of NEOC referred to the medical oncology department at Hospital Universitario Virgen del Rocio between 1999 and 2014 were included. Demographics, tumor characteristics, treatment procedures, and clinical follow-up were retrospectively collected. Risk factors for disease-free survival (DFS) and overall survival (OS) were assessed.
RESULTS: Fifty-seven patients were included, 33 (58 %) had a sex cord-stromal tumor (SCST) and 24 (42 %) had a germ-cell tumor (GCT). Median age, non-conservative surgery rates and DFS were lower in the GCT cohort; however, salvage chemotherapy led to a high proportion of complete responses in this group translating into a 90 % 3-year OS rate in both NEOC subtypes. The only identified risk factors statistically significant were stage and tumour relapse that associated, respectively, with DFS (HR = 8.84; 95 % CI 1.85-42) and OS (HR = 11.02; 95 % CI 1.76-68.7).
CONCLUSIONS: Despite their rarity, NEOCs remain a highly curable group of neoplasm. In our series, a more conservative treatment approach in ovarian GCTs revealed comparable OS outcomes to SCST. No new risk factors that would help in patient stratification were identified.

PMID: 27193130 [PubMed - as supplied by publisher]

A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.

Am J Med Genet A. 2015 Sep;167A(9):2042-51

Authors: Salpietro V, Ruggieri M, Mankad K, Di Rosa G, Granata F, Loddo I, Moschella E, Calabro MP, Capalbo A, Bernardini L, Novelli A, Polizzi A, Seidler DG, Arrigo T, Briuglia S

Abstract
Deletions of the long arm of chromosome 6 are rare and are characterized by great clinical variability according to the deletion breakpoint. We report a on 6-year-old girl with a de novo 0.63 Mb deletion on chromosome 6q25.1 who demonstrated multiple congenital anomalies including a ventricular septal defect and an underdeveloped cerebellar vermis. She presented with severe pre- and post-natal growth failure, hyperextensible small joints (Beighton scores = 8/9; with normal parental scores), and an abnormally elastic, redundant skin. Abnormally high upper/lower segment ratio (i.e., 1.34 = > 3SD), mild dysmorphic facial features and developmental delay were also present. The girl's phenotype was compared with: (i) two girls, each previously reported by Bisgaard et al. and Caselli et al. with similar albeit larger (2.6-7.21 Mb) deletions; (ii) seven additional individuals (6 M; 1 F) harboring deletions within the 6q25.1 region reported in the literature; and (iii) ten further patients (5 M; 4 F; 1 unrecorded sex) recorded in the DECIPHER 6.0 database. We reported on the present girl as her findings could contribute to advance the phenotype of 6q deletions. In addition, the present deletion is the smallest so far recorded in the 6q25 region encompassing eight known genes [vs. 41 of Bisgaard et al., and 23 of Caselli et al.,], including the TAB2 (likely responsible for the girl's congenital heart defect), LATS1 gene, and the UST gene (a regulator of the homeostasis of proteoglycans, which could have played a role in the abnormal dermal and cartilage elasticity).

PMID: 25940952 [PubMed - indexed for MEDLINE]

Conjunctival malignant melanoma in Denmark: epidemiology, treatment and prognosis with special emphasis on tumorigenesis and genetic profile.

Acta Ophthalmol. 2016 May;94 Suppl A103:1-27

Authors: Larsen AC

Abstract
Conjunctival malignant melanoma is a rare disease associated with considerable mortality. Most published data have been based on case reports or series of referred patients. In addition, very little is known about the genetic and epigenetic profile of conjunctival melanoma and the resemblance to uveal, cutaneous and mucosal melanoma. The aim was to determine the incidence rate of conjunctival melanoma, and to relate clinicopathological features and treatment to prognosis. A further aim was to determine the prevalence of BRAF mutations in conjunctival melanoma, to determine whether BRAF mutations are early events in pathogenesis, and relate clinicopathological features and prognosis to BRAF-mutation status. Finally, we wanted to identify tumour-specific and prognostic microRNAs in conjunctival melanoma, and to compare these with the microRNA expression of other melanoma subtypes. In order to investigate these rare tumours, we studied all the conjunctival melanomas that had been surgically removed in Denmark over a period of 52 years (1960-2012). Tissue samples, clinical files, pathology reports and follow-up data were collected and re-evaluated. Using droplet digital polymerase chain reaction and immunohistochemistry, we investigated BRAF mutations; and using microRNA expression profiling, we investigated differentially expressed microRNAs. The overall incidence of conjunctival melanoma was 0.5/1 000 000/year, and it increased in Denmark over 52 years. The increase was mainly caused by an increase in older patients (>65 years) and bulbar lesions. Clinicopathological features significantly associated with a poor prognosis were extrabulbar location, involvement of adjacent tissue structures, tumour thickness exceeding 2 mm and local tumour recurrence. Patients undergoing incisional biopsy and/or treatment involving excision without adjuvant therapy fared worse than patients treated with excision and any type of adjuvant treatment. We found that 35% (39/110) of conjunctival melanomas were BRAF-mutated, and the incidence of BRAF mutations was constant over time. BRAF-mutation status corresponded in conjunctival melanoma and paired premalignant lesions. BRAF mutations were more frequent in males, in young patients, and in tumours with a sun-exposed tumour location (bulbar conjunctiva or caruncle), with a mixed or non-pigmented colour, with absence of primary acquired melanosis, and with origin in a nevus. Immunohistochemistry was able to accurately detect BRAF V600E mutations. In univariate analysis, distant metastatic disease was associated with BRAF mutations. No prognostic associations with BRAF mutations were identified in multivariate analyses. MicroRNA expression analysis revealed 25 tumour-specific microRNAs in conjunctival melanoma. Five possibly oncogenic miRNAs (miR-20b-5p, miR-146b-5p, miR-146a-5p, miR-506-3p and miR-509-3p) were up-regulated. Seven microRNAs (miR-30d-5p, miR-138-5p, miR-146a-5p, miR-500a-5p, miR-501-3p, miR-501-5p and miR-502-3p) were significantly and simultaneously up-regulated in both stage T1 and stage T2 tumours, and were associated with increased tumour thickness. The expression of the 25 tumour-specific microRNAs did not differ significantly between conjunctival melanoma and oral or nasal mucosal melanoma. In conclusion, the incidence of conjunctival melanoma increased in the Danish population from 1960 to 2012. From our findings of a distinct pattern of BRAF mutations and differentially expressed microRNAs, it is evident that conjunctival melanoma is closely related to cutaneous and other mucosal melanomas and bears less resemblance to uveal melanomas. This means that conjunctival melanoma patients may benefit from therapies that are effective for cutaneous and mucosal melanoma. Additionally, the identification of several up-regulated microRNAs may prove to be useful as prognostic or therapeutic targets in conjunctival melanoma.

PMID: 27192168 [PubMed - as supplied by publisher]

Hemophagocytic Lymphohistiocytosis and Progressive Disseminated Histoplasmosis.

Emerg Infect Dis. 2016 Jun;22(6):1119-1121

Authors: Ferguson-Paul K, Mangum S, Porter A, Leventaki V, Campbell P, Wolf J

PMID: 27191972 [PubMed - as supplied by publisher]

Treatment of genetic defects of thiamine transport and metabolism.

Expert Rev Neurother. 2016 May 18;

Authors: Ortigoza-Escobar JD, Molero-Luis M, Arias A, Martí-Sánchez L, Rodriguez-Pombo P, Artuch R, Pérez-Dueñas B

Abstract
INTRODUCTION: Thiamine is a key cofactor for energy metabolism in brain tissue. There are four major genetic defects (SLC19A2, SLC19A3, SLC25A19 and TPK1) involved in the metabolism and transport of thiamine through cellular and mitochondrial membranes. Neurological involvement predominates in three of them (SLC19A3, SCL25A19 and TPK1), whereas patients with SLC19A2 mutations mainly present extra-neurological features (e.g. diabetes mellitus, megaloblastic anaemia and sensory-neural hearing loss). These genetic defects may be amenable to therapeutic intervention with vitamins supplementation and hence, constitutes a main area of research. Areas Covered: We conducted a literature review of all reported cases with these genetic defects, and focused our paper on treatment efficacy and safety, adverse effects, dosing and treatment monitoring. Expert Commentary: Doses of thiamine vary according to the genetic defect: for SLC19A2, the usual dose is 25-200 mg/day (1-4 mg/kg per day), for SLC19A3, 10-40 mg/kg per day, and for TPK1, 30 mg/kg per day. Thiamine supplementation in SLC19A3-mutated patients restores CSF and intracellular thiamine levels, resulting in successful clinical benefits. In conclusion, evidence collected so far suggests that the administration of thiamine improves outcome in SLC19A-2, SLC19A3- and TPK1-mutated patients, so most efforts should be aimed at early diagnosis of these disorders.

PMID: 27191787 [PubMed - as supplied by publisher]

Optimal therapy and prospects for new medicines in eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome).

Expert Rev Clin Immunol. 2016 May 18;

Authors: Pagnoux C, Groh M

Abstract
INTRODUCTION: The prevalence of eosinophilic granulomatosis with polyangiitis (EGPA; previously known as Churg-Strauss syndrome) is lower than that of other antineutrophil cytoplasm antibody (ANCA)-associated vasculitides (AAV's), and only a few randomized controlled trials have been conducted for this rare disease. However, recent international efforts have helped delineate the best treatment approach. Areas covered: At present, EGPA conventional therapy is by default similar to that of other AAVs. Limited, non-severe EGPA can initially be treated with glucocorticoids (GCs) alone. Patients with life-threatening manifestations and/or major organ involvement must receive a combination of GCs and an immunosuppressant, mainly cyclophosphamide. Remission can be achieved in >85% of patients with these first-line treatments, but vasculitis relapses occur in more than one-third of patients, and about 15% cannot stop GC treatment because of GC-dependent asthma and/or ENT manifestations. A few biologic agents, including rituximab or mepolizumab, are now under investigation after interesting preliminary results. Expert Commentary: Treatment for EGPA still has several unmet needs. Several biologic agents are now under investigation in randomized controlled trials, but a few others should be considered soon. Their benefit should be demonstrated for devising more EGPA-tailored therapeutic strategies (ideally GC-free).

PMID: 27191665 [PubMed - as supplied by publisher]

Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disorders.

Disabil Rehabil. 2015;37(21):1992-6

Authors: Downs J, Leonard H, Jacoby P, Brisco L, Baikie G, Hill K

Abstract
BACKGROUND: Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion. This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome.
METHODS: Twenty-six participants (mean 18 years, SD 8) wore an Actigraph, ActivPAL and StepWatch Activity Monitor (SAM) during a video-taped session of activities. Agreement was determined between step-counts derived from each accelerometer and observation. Repeatability of SAM-derived step counts was determined using pairs of one-minute epochs during which the same participant was observed to walk with the same cadence.
RESULTS: The mean difference (limit of agreement) for the Actigraph, ActivPAL and SAM were -41 (SD 33), -16 (SD 21) and -1 (SD 16) steps/min, respectively. Agreement was influenced by a device/cadence interaction (p < 0.001) with greater under-recording at higher cadences. For SAM data, repeatability of step-count pairs was excellent (intraclass correlation coefficient 0.91, 95% CI 0.79-0.96). The standard error of measurement was 6 steps/min and we would be 95% confident that a change ≥17 steps/min would be greater than within-subject measurement error.
CONCLUSIONS: The capacity of the SAM to measure physical activity in Rett syndrome allows focus on participation-based activities in clinical practice and clinical trials. Implications for Rehabilitation Many girls and women with Rett syndrome are able to walk on their own or with assistance but with altered movement patterns. Validated measures of physical activity, such as step counts, have potential to monitor function during daily life. Compared with other forms of accelerometer-type devices, such as ActiGraph and ActivPAL, the StepWatch Activity Monitor (SAM) measured step counts with good accuracy and repeatability. The capacity of the SAM to measure physical activity in Rett syndrome allows focus on participation-based activities in clinical practice and clinical trials.

PMID: 25495774 [PubMed - indexed for MEDLINE]

40 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")

These pubmed results were generated on 2016/05/18

PubMed comprises more than 24 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Eosinophilic cystitis and haematuria: Case report of a rare disease and common presentation.

Int J Surg Case Rep. 2016 May 6;24:43-45

Authors: Chia D

Abstract
INTRODUCTION: Eosinophilic cystitis is a rare inflammatory condition of the bladder that can cause haematuria. The aetiology is unknown and clinical presentation is difficult to distinguish from other causes of haematuria. Diagnosis is confirmed by biopsy. In this case, a patient with haematuria is diagnosed with eosinohpilic cystitis after presenting to hospital. He was commenced on antibiotics for a presumed urinary tract infection with no resolution of haematuria and symptoms. After diagnosis he was commenced on treatment with resolution of symptoms.
CASE PRESENTATION: A 73-year-old male presents with first episode of haematuria. He was initially diagnosed with a urinary tract infection and commenced on antibiotics with no resolution. After further investigations including a cystoscopy and bladder biopsy, he was diagnosed with eosinophilic cystitis. He was treated with steroids improving his symptoms.
CONCLUSION: Eosinophilic cystitis is a rare disease of the bladder which is difficult to distinguish from other causes of haematuria, and is often misdiagnosed. Bladder biopsy is necessary for diagnosis. Early diagnosis is important, and it is through a combination of non-operative and operative interventions such as biopsy. Natural history is difficult to predict as it is difficult to determine is a patient will have a benign course with resolution with or without treatment, or result in a chronic course which may result in bladder damage and renal failure. This case highlights the importance of investigating haematuria that is unresponsive to initial empiric treatment such as antibiotics. It is important to refer to a Urologist for further investigation to rule out a sinister cause, but to also obtain a diagnosis, leading to definitive treatment.

PMID: 27179336 [PubMed - as supplied by publisher]

Primary extraskeletal Ewing sarcoma of the stomach: a rare disease in an uncommon location.

Clin Imaging. 2016 Apr 5;40(5):843-845

Authors: Maxwell AW, Wood S, Dupuy DE

Abstract
We report the case of a 63-year-old female undergoing evaluation of symptomatic anemia, gastroesophageal reflux disease, and abdominal pain. After a thorough diagnostic workup, a large, ulcerated mass was identified in the patient's stomach, and surgical pathology in combination with molecular analysis yielded a diagnosis of primary extraskeletal Ewing sarcoma. In our report, we discuss the epidemiologic, clinicopathologic, and radiographic features of this rare disease and provide a review of the existing literature.

PMID: 27179157 [PubMed - as supplied by publisher]

Peritoneal lymphomatosis confused with peritoneal carcinomatosis due to the previous history of gastric cancer: a case report.

Clin Imaging. 2016 Mar 29;40(5):837-839

Authors: Choi WY, Kim JH, Choi SJ, Park J, Park YH, Lim JH, Lee MH, Kim CS, Yi HG

Abstract
Peritoneal lymphomatosis is a very rare disease of extranodal involvement of malignant lymphoma that is occasionally confounded with other peritoneal diseases. Herein, we reported the case of a 59-year-old woman who presented with massive ascites with prior history of stomach perforation during endoscopic procedure to treat early gastric cancer. Imaging studies showed massive ascites and tumor infiltration in the omentum and peritoneal wall. Initially, relapsed gastric cancer with peritoneal seeding was suspected based on the patient's history and imaging findings. However, final diagnosis was confirmed by ascites cytology as peritoneal lymphomatosis of diffuse large B-cell lymphoma unlike prior clinical information.

PMID: 27179155 [PubMed - as supplied by publisher]

Rare case of neurinoma of the facial nerve.

Braz J Otorhinolaryngol. 2015 Mar-Apr;81(2):226-7

Authors: Passos IM, Massuda ET, Hyppolito MA, Colli BO, Damico TA

PMID: 25649138 [PubMed - indexed for MEDLINE]

29 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")

These pubmed results were generated on 2016/05/14

PubMed comprises more than 24 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

18 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")

These pubmed results were generated on 2016/05/12

PubMed comprises more than 24 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

18 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

("orphan disease" OR "rare disease" OR "orphan diseases" OR "rare diseases")

These pubmed results were generated on 2016/05/11

PubMed comprises more than 24 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Dental and dentofacial problems in a female child with Toriello-Carey -syndrome: changes in 3 years.

Spec Care Dentist. 2016 May 9;

Authors: Tirali RE, İlhan B, Şar Ç, Çehreli SB

Abstract
Toriello-Carey syndrome is a rare disease whose clinical manifestations are midline facial defects, laryngeal and pharyngeal hypoplasia, cardiac defect, and corpus callosum hypoplasia. Literature states that clinical manifestations are more evident in males. This is the second report in the literature which describes the dental and dentofacial -features in an 8-year-old female patient with Toriello-Carey syndrome.

PMID: 27159668 [PubMed - as supplied by publisher]

Paraneoplastic stiff person syndrome: Inpatient rehabilitation outcomes of a rare disease from two cancer rehabilitation programmes.

J Rehabil Med. 2016 May 3;

Authors: Robinson Smith S, Fu JB

Abstract
Paraneoplastic stiff person syndrome is a rare, but debilitating, manifestation of cancer, characterized by painful extremities, truncal and facial spasms. The resultant functional impairment may necessitate comprehensive rehabilitation and symptom management. This case series describes the acute inpatient rehabilitation courses of 2 patients at different tertiary care referral cancer rehabilitation programmes, including work-up and diagnosis, medical management of symptoms, and functional outcomes. Both patients had a reduction in symptom burden and an improvement in motor function as a result of multidisciplinary acute inpatient rehabilitation.

PMID: 27157044 [PubMed - as supplied by publisher]

Chronic recurrent multifocal osteomyelitis: a rare skeletal disorder.

BMJ Case Rep. 2015;2015

Authors: Aygun D, Barut K, Camcioglu Y, Kasapcopur O

Abstract
Chronic recurrent multifocal osteomyelitis (CRMO) is a rare non-infectious inflammatory bone disease of unknown aetiology. CRMO mainly affects the metaphyses of long bones and spine in children and young adolescents. It presents with recurrent episodes of bone pain and fever, resembling bacterial osteomyelitis, but cultures of lesions are sterile and it is unresponsive to antibiotic therapy. We report a case of a 3-year-old boy diagnosed with CRMO, who was initially treated for bacterial osteomyelitis, and received prolonged antibiotic therapy for chronic pain, and swelling of mandible and ulna. CRMO should be kept in mind in the differential diagnosis of chronic bone pain and osteomyelitis unresponsive to antibiotic treatment.

PMID: 26307646 [PubMed - indexed for MEDLINE]

Report on the EUROMAC McArdle Exercise Testing Workshop, Madrid, Spain, 11-12 July 2014.

Neuromuscul Disord. 2015 Sep;25(9):739-45

Authors: Quinlivan R, Lucia A, Scalco RS, Santalla A, Pattni J, Godfrey R, Marti R, Workshop Participants

PMID: 26159598 [PubMed - indexed for MEDLINE]

Breast: Sezary Syndrome: A Unique Presentation.

Breast J. 2015 Jul-Aug;21(4):423-7

Authors: Bedayat A, Mirzabeigi M, Yu H, Hultman R, MacMaster S

Abstract
Sezary syndrome is a subtype of cutaneous T cell lymphoma which usually presents as generalized skin disease with erytheroderma. Distal organ involvement is rare and is usually a late finding in the course of the disease. Breast involvement is extremely rare. Herein, we present a case report of a patient whose initial presentation involved an intramammary lymph node prior to the onset of more characteristic skin disease. Sezary syndrome was confirmed by cythopathologic findings.

PMID: 25939954 [PubMed - indexed for MEDLINE]