Pancreatic Panniculitis and Polyarthritis.

Curr Rheumatol Rep. 2017 Aug 26;19(10):62

Authors: Zundler S, Strobel D, Manger B, Neurath MF, Wildner D

Abstract
PURPOSE OF REVIEW: Polyarthritis can have numerous reasons and may thus constitute a challenge for differential diagnosis. One rare potential reason for sterile polyarthritis is underlying pancreatic disease with systemic hyperlipasemia, most often accompanied by painful skin lesions caused by a subcutaneous inflammatory process known as panniculitis. Systematic evidence on pancreatic panniculitis and polyarthritis is limited, particularly regarding its feature as facultative paraneoplasia with underlying intra- or even extra-pancreatic malignancy. Therefore, we will summarize the current knowledge about this orphan disease including epidemiological, pathophysiological, diagnostic, and treatment aspects in the present review.
RECENT FINDINGS: Although direct evidence is lacking, it is highly probable that pancreatic polyarthritis and panniculitis are caused by peripheral lipolytic activity of lipase systemically circulating due to benign (e.g., acute or chronic pancreatitis) or malign (e.g., acinar cell carcinoma (ACC) or adenocarcinoma) pancreatic disease. In the latter case, pancreatic polyarthritis and panniculitis are associated with poor outcome. Pancreatic polyarthritis and panniculitis should always be included into diagnostic considerations, and once suspected, a thorough work-up to identify the underlying disease has to be performed.

PMID: 28844095 [PubMed - in process]

A natural history study of X-linked myotubular myopathy.

Neurology. 2017 Aug 25;:

Authors: Amburgey K, Tsuchiya E, de Chastonay S, Glueck M, Alverez R, Nguyen CT, Rutkowski A, Hornyak J, Beggs AH, Dowling JJ

Abstract
OBJECTIVE: To define the natural history of X-linked myotubular myopathy (MTM).
METHODS: We performed a cross-sectional study that included an online survey (n = 35) and a prospective, 1-year longitudinal investigation using a phone survey (n = 33).
RESULTS: We ascertained data from 50 male patients with MTM and performed longitudinal assessments on 33 affected individuals. Consistent with existing knowledge, we found that MTM is a disorder associated with extensive morbidities, including wheelchair (86.7% nonambulant) and ventilator (75% requiring >16 hours of support) dependence. However, unlike previous reports and despite the high burden of disease, mortality was lower than anticipated (approximate rate 10%/y). Seventy-six percent of patients with MTM enrolled (mean age 10 years 11 months) were alive at the end of the study. Nearly all deaths in the study were associated with respiratory failure. In addition, the disease course was more stable than expected, with few adverse events reported during the prospective survey. Few non-muscle-related morbidities were identified, although an unexpectedly high incidence of learning disability (43%) was noted. Conversely, MTM was associated with substantial burdens on patient and caregiver daily living, reflected by missed days of school and lost workdays.
CONCLUSIONS: MTM is one of the most severe neuromuscular disorders, with affected individuals requiring extensive mechanical interventions for survival. However, among study participants, the disease course was more stable than predicted, with more individuals surviving infancy and early childhood. These data reflect the disease burden of MTM but offer hope in terms of future therapeutic intervention.

PMID: 28842446 [PubMed - as supplied by publisher]

The burden of rare cancers in the United States.

CA Cancer J Clin. 2017 Jul 08;67(4):261-272

Authors: DeSantis CE, Kramer JL, Jemal A

Abstract
There are limited published data on the burden of rare cancers in the United States. By using data from the North American Association of Central Cancer Registries and the Surveillance, Epidemiology, and End Results program, the authors provide information on incidence rates, stage at diagnosis, and survival for more than 100 rare cancers (defined as an incidence of fewer than 6 cases per 100,000 individuals per year) in the United States. Overall, approximately 20% of patients with cancer in the United States are diagnosed with a rare cancer. Rare cancers make up a larger proportion of cancers diagnosed in Hispanic (24%) and Asian/Pacific Islander (22%) patients compared with non-Hispanic blacks (20%) and non-Hispanic whites (19%). More than two-thirds (71%) of cancers occurring in children and adolescents are rare cancers compared with less than 20% of cancers diagnosed in patients aged 65 years and older. Among solid tumors, 59% of rare cancers are diagnosed at regional or distant stages compared with 45% of common cancers. In part because of this stage distribution, 5-year relative survival is poorer for patients with a rare cancer compared with those diagnosed with a common cancer among both males (55% vs 75%) and females (60% vs 74%). However, 5-year relative survival is substantially higher for children and adolescents diagnosed with a rare cancer (82%) than for adults (46% for ages 65-79 years). Continued efforts are needed to develop interventions for prevention, early detection, and treatment to reduce the burden of rare cancers. Such discoveries can often advance knowledge for all cancers. CA Cancer J Clin 2017. © 2017 American Cancer Society. CA Cancer J Clin 2017;67:261-272. © 2017 American Cancer Society.

PMID: 28542893 [PubMed - indexed for MEDLINE]

Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study.

J Inherit Metab Dis. 2017 May;40(3):369-376

Authors: Wang L, Zou H, Ye F, Wang K, Li X, Chen Z, Chen J, Han B, Yu W, He C, Shen M

Abstract
BACKGROUND: Phenylketonuria (PKU) is a rare inborn disease, which, untreated, leading to severe neurobehavioral dysfunction. Considering its complexity, the management of PKU may bring a formidable economic burden to parents and caregivers. It is still unknown what the out-of-pocket expenses are for a patient with PKU in China. This paper explores the household financial burden of classical PKU and its impact on Chinese families in a quantitative manner for the first time.
METHODS: A non-interventional and observational study was conducted at the China-Japan Friendship Hospital, one of the national centers for inherited metabolic disorders in China. The medical and non-medical household financial burdens were consolidated into a questionnaire to evaluate the out-of-pocket costs (OOPCs) of PKU treatment and follow-up.
FINDINGS: The total OOPCs were USD$3766.1 (0y), USD$3795.2 (1-2 ys), USD$4657.7 (3-4 ys), USD$5979.9 (5-8 ys), and USD$5588.7 (9 ys and older) for PKU patients of different age groups. The median economic burden of classical PKU was 75.0 % of total annual family income (range 1.0-779.1 %), and 94.4 % of the families exceeding the threshold considered as catastrophic expenditure. There was a negative correlation between the financial burden and the proportion of time when Phe concentrations were in the desired target range (120-250 μmol/L) in 0-4-ys group (r = -0.474, p = 0.026).
CONCLUSIONS: The management of PKU is associated with a severe financial burden on patients' families, which may lead to insufficient treatment or variation of blood Phe concentration. The current reimbursement policies are as yet inadequate. A national reimbursement system targeting treatment practices for PKU patients and other rare diseases across China is imperative.

PMID: 27832415 [PubMed - indexed for MEDLINE]

Retropharyngeal liposarcoma: A rare cause of dysphagia.

Eur Ann Otorhinolaryngol Head Neck Dis. 2016 Dec;133(6):429-430

Authors: Vella O, Bequignon A, Comoz F, Babin E

Abstract
INTRODUCTION: Liposarcoma is a rare malignant mesenchymal tumour. Very few cases of retropharyngeal liposarcoma have been reported in the literature.
SUMMARY: A 30-year-old woman with no notable history reported swallowing disorders for the past year associated with dysphonia. Nasal endoscopic examination demonstrated a tumour arising from the left lateral pharyngeal wall, ascending as far as the junction of the free margin of the epiglottis, aryepiglottic fold, and pharyngoepiglottic fold and obliterating the ipsilateral pyriform sinus with preservation of cord mobility. The rest of the physical examination was normal. The preoperative assessment was completed by gadolinium-enhanced MRI of the neck. Open surgery was performed. Definitive histological examination concluded on dedifferentiated liposarcoma with negative resection margins. Following staging chest computed tomography that did not reveal any metastases, the multidisciplinary consultation meeting decided to deliver adjuvant volumetric modulated arc therapy. No recurrence was observed nine months post-treatment.
DISCUSSION: Retropharyngeal liposarcoma is a rare tumour. The authors report the first case of a dedifferentiated histological subtype in this site. A review of the literature completes this case report by providing a description of prognostic factors and the various treatments.

PMID: 27522149 [PubMed - indexed for MEDLINE]

Ameloblastic fibro-odontosarcoma of the mandible in a pediatric patient.

Eur Ann Otorhinolaryngol Head Neck Dis. 2016 Dec;133(6):419-421

Authors: Chen SJ, Zheng XW, Lin X, Liu H

Abstract
INTRODUCTION: Ameloblastic fibro-odontosarcoma is an extremely rare subtype of odontogenic sarcoma, with only 13 cases reported in the literature.
CASE REPORT: A 4-year-old male presented with a painless mandibular swelling, which appeared 4months previously. Cone beam computed tomography revealed an extensive, ill-circumscribed, multilocular radiolucency of the right mandible extending from the first deciduous molar to the ramus with slightly dense opacities. Histological examination of the incisional biopsy specimen revealed a biphasic tumor with sarcomatous mesenchyme and benign ameloblastic epithelial component compatible with a diagnosis of ameloblastic fibrosarcoma. A right hemimandibular resection was performed. Areas of deposition of dentinoid and enamel material closely adjacent to ameloblastic epithelium were noted in the excised specimen. A final diagnosis of ameloblastic fibro-odontosarcoma was made. After four years of close follow-up, there is no sign of recurrence or metastasis.
CONCLUSION: Although rare, ameloblastic fibro-odontosarcoma should be considered in the differential diagnosis of jaw lesions with radiographic radiolucencies exhibiting poorly circumscribed outlines and containing radiopaque material. Definite diagnosis depends on histopathological examination. Complete surgical excision is the treatment of choice.

PMID: 27130809 [PubMed - indexed for MEDLINE]

Case report of a pair of siblings with cryptogenic multifocal ulcerating stenosing enteritis: A rare disease easily to be misdiagnosed as Crohn disease.

Medicine (Baltimore). 2017 Aug;96(32):e7527

Authors: Zhang Y, Huang L, Liu R, Wang M, Jiang Z, Zhou W, Cao Q

Abstract
RATIONALE: The rare disease cryptogenic multifocal ulcerous stenosing enteritis (CMUSE) is characterized by multiple and recurring small intestinal ulcers with stenosis of unknown causes. In clinic, it is difficult to be differentiated from the inflammatory bowel disease, especially the Crohn disease.
PATIENT CONCERNS: Here we report a pair of siblings who suffered from long-time anemia and abdominal pain and misdiagnosed with inflammatory bowel disease (IBD) for many years.
DIAGNOSES: They were finally diagnosed with CMUSE with intestinal obstruction.
INTERVENTIONS AND OUTCOMES: They both accepted surgical treatment and recovered well. No abdominal symptom appeared in the two-year follow-up.
LESSONS: This report underscores that CMUSE patients may have a long course of suffering from anemia and abdominal pain, normal inflammatory markers and normal colon, and sometimes have a family history of CMUSE. Surgery of segmental bowel resection is a good way to solve intractable intestinal obstruction in CMUSE.

PMID: 28796036 [PubMed - indexed for MEDLINE]

[Intrahepatic cholestasis of pregnancy : Rare but important].

Hautarzt. 2017 Feb;68(2):95-102

Authors: Kremer AE, Wolf K, Ständer S

Abstract
Intrahepatic cholestasis of pregnancy (ICP) is a liver-specific disorder occurring in approximately 0.5-2.0% of all pregnancies with a considerable variation in certain ethnic groups. ICP usually runs a benign course for the mother and is characterized by maternal pruritus mainly in the third trimester, elevated transaminases and fasting total serum bile salts and increased fetal adverse events. The etiology of ICP is only partially understood but seems to be multifactorial. Cholestasis-inducing effects of certain female sex hormones and their metabolites play an important role in genetically susceptible women. The mechanisms resulting in fetal complications such as spontaneous preterm labour, antepartum passage of meconium, asphyxia events, still birth and fetal death are not well understood. Certain sulfated progesterone metabolites are likely to play a role in the pathogenesis of pruritus in ICP. In contrast to pregnancy-related dermatoses, pruritus does not present with primary skin alterations. However, intense scratching may cause secondary skin changes such as abrasions, excoriations and sometimes prurigo nodularis. Treatment is based on ursodeoxycholate treatment to reduce pruritus and hepatic impairment as well as elective delivery between gestation week 37-38 to pre-empt potential stillbirths. This article reviews clinical symptoms, diagnosis, treatment and in particular pathogenesis of pruritus in ICP.

PMID: 28074213 [PubMed - indexed for MEDLINE]

Meta-analysis of few small studies in orphan diseases.

Res Synth Methods. 2017 Mar;8(1):79-91

Authors: Friede T, Röver C, Wandel S, Neuenschwander B

Abstract
Meta-analyses in orphan diseases and small populations generally face particular problems, including small numbers of studies, small study sizes and heterogeneity of results. However, the heterogeneity is difficult to estimate if only very few studies are included. Motivated by a systematic review in immunosuppression following liver transplantation in children, we investigate the properties of a range of commonly used frequentist and Bayesian procedures in simulation studies. Furthermore, the consequences for interval estimation of the common treatment effect in random-effects meta-analysis are assessed. The Bayesian credibility intervals using weakly informative priors for the between-trial heterogeneity exhibited coverage probabilities in excess of the nominal level for a range of scenarios considered. However, they tended to be shorter than those obtained by the Knapp-Hartung method, which were also conservative. In contrast, methods based on normal quantiles exhibited coverages well below the nominal levels in many scenarios. With very few studies, the performance of the Bayesian credibility intervals is of course sensitive to the specification of the prior for the between-trial heterogeneity. In conclusion, the use of weakly informative priors as exemplified by half-normal priors (with a scale of 0.5 or 1.0) for log odds ratios is recommended for applications in rare diseases. © 2016 The Authors. Research Synthesis Methods published by John Wiley & Sons Ltd.

PMID: 27362487 [PubMed - indexed for MEDLINE]

[Lymphoepithelial carcinoma of the eye].

Ophthalmologe. 2016 Nov;113(11):943-944

Authors: Lehmann F, Robold K, Helbig H, Oberacher-Velten I

Abstract
A lymphoepithelial carcinoma of the conjunctiva was excised in an 80-year-old female patient. The otorhinolaryngeal (ENT) examination did not show any abnormalities and nasopharyngeal or systemic metastases were absent. A strictly controlled clinical follow-up of the excision site was scheduled. A lymphoepithelial carcinoma of the eye is very rare and it is classified under the nasopharyngeal carcinomas. The diagnostics and therapy are an interdisciplinary task involving ENT, radiology, pathology and oncology and if the tumor cannot be completely excised, radiotherapy is also included.

PMID: 26883428 [PubMed - indexed for MEDLINE]

Role of vitamin D in cystic fibrosis and non-cystic fibrosis bronchiectasis.

World J Clin Pediatr. 2017 Aug 08;6(3):132-142

Authors: Moustaki M, Loukou I, Priftis KN, Douros K

Abstract
Bronchiectasis is usually classified as cystic fibrosis (CF) related or CF unrelated (non-CF); the latter is not considered an orphan disease any more, even in developed countries. Irrespective of the underlying etiology, bronchiectasis is the result of interaction between host, pathogens, and environment. Vitamin D is known to be involved in a wide spectrum of significant immunomodulatory effects such as down-regulation of pro-inflammatory cytokines and chemokines. Respiratory epithelial cells constitutively express 1α-hydroxylase leading to the local transformation of the inactive 25(OH)-vitamin D to the active 1,25(OH)2-vitamin D. The latter through its autocrine and paracrine functions up-regulates vitamin D dependent genes with important consequences in the local immunity of lungs. Despite the scarcity of direct evidence on the involvement of vitamin D deficiency states in the development of bronchiectasis in either CF or non-CF patients, it is reasonable to postulate that vitamin D may play some role in the pathogenesis of lung diseases and especially bronchiectasis. The potential contribution of vitamin D deficiency in the process of bronchiectasis is of particular clinical importance, taking into consideration the increasing prevalence of vitamin D deficiency worldwide and the significant morbidity of bronchiectasis. Given the well-established association of vitamin D deficiency with increased inflammation, and the indicative evidence for harmful consequences in lungs, it is intriguing to speculate that the administration of vitamin D supplementation could be a reasonable and cost effective supplementary therapeutic approach for children with non-CF bronchiectasis. Regarding CF patients, maybe in the future as more data become available, we have to re-evaluate our policy on the most appropriate dosage scheme for vitamin D.

PMID: 28828295 [PubMed]

Successful treatment of a rare case of ameloblastic fibrosarcoma with radiation therapy.

Strahlenther Onkol. 2017 Aug;193(8):666-672

Authors: Oertel M, Reinartz G, Scobioala S, Eich HT

Abstract
Sarcomas are rare diseases of the head and neck region, representing around 1% of all malignancies. Amongst them, ameloblastic fibrosarcoma (AFS) is of even greater rarity, with less than 100 cases reported in the literature. Consequently, no standard treatment or guidelines have been made available. Surgery is often performed as primary therapy, but may be limited due to anatomical or functional reasons. We present a case of AFS successfully treated by postoperative radiation therapy. A detailed case study is provided, followed by a review of the English-language literature focusing on the role of radiation therapy.

PMID: 28444430 [PubMed - indexed for MEDLINE]

The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.

Neuron. 2017 Feb 22;93(4):737-746

Authors: Aflaki E, Westbroek W, Sidransky E

Abstract
The discovery of a link between mutations in GBA1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies directly resulted from the clinical recognition of patients with Gaucher disease with parkinsonism. Mutations in GBA1 are now the most common known genetic risk factor for several Lewy body disorders, and an inverse relationship exists between levels of glucocerebrosidase and oligomeric α-synuclein. While the underlying mechanisms are still debated, this complicated association is shedding light on the role of lysosomes in neurodegenerative disorders, demonstrating how insights from a rare disorder can direct research into the pathogenesis and therapy of seemingly unrelated common diseases.

PMID: 28231462 [PubMed - indexed for MEDLINE]

Commissioning of a specialist service for Stevens-Johnson syndrome/toxic epidermal necrolysis: current management in England could be improved.

Br J Dermatol. 2016 Oct;175(4):829

Authors: George C, Creamer D, Moss C, Walsh S

PMID: 27106856 [PubMed - indexed for MEDLINE]

Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey.

PLoS One. 2017;12(2):e0172532

Authors: Blöß S, Klemann C, Rother AK, Mehmecke S, Schumacher U, Mücke U, Mücke M, Stieber C, Klawonn F, Kortum X, Lechner W, Grigull L

Abstract
BACKGROUND: Worldwide approximately 7,000 rare diseases have been identified. Accordingly, 4 million individuals live with a rare disease in Germany. The mean time to diagnosis is about 6 years and patients receive several incorrect diagnoses during this time. A multiplicity of factors renders diagnosing a rare disease extremely difficult. Detection of shared phenomena among individuals with different rare diseases could assist the diagnostic process. In order to explore the demand for diagnostic support and to obtain the commonalities among patients, a nationwide Delphi survey of centers for rare diseases and patient groups was conducted.
METHODS: A two-step Delphi survey was conducted using web-based technologies in all centers for rare diseases in Germany. Moreover, the leading patient support group, the German foundation for rare diseases (ACHSE), was contacted to involve patients as experts in their disease. In the survey the experts were invited to name rare diseases with special need for diagnostic improvement. Secondly, communal experiences of affected individuals were collected.
RESULTS: 166 of 474 contacted experts (35%) participated in the first round of the Delphi process and 95 of 166 (57%) participated in the second round. Metabolic (n = 74) and autoimmune diseases (n = 39) were ranked the highest for need for diagnostic support. For three diseases (i.e. scleroderma, Pompe's disease, and pulmonary arterial hypertension), a crucial need for diagnostic support was explicitly stated. A typical experience of individuals with a rare disease was stigmatization of having psychological or psychosomatic problems. In addition, most experts endured an 'odyssey' of seeing many different medical specialists before a correct diagnosis (n = 38) was confirmed.
CONCLUSION: There is need for improving the diagnostic process in individuals with rare diseases. Shared experiences in individuals with a rare disease were observed, which could possibly be utilized for diagnostic support in the future.

PMID: 28234950 [PubMed - indexed for MEDLINE]

Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis.

Neuro Oncol. 2016 May;18(5):624-38

Authors: Blakeley JO, Plotkin SR

Abstract
Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN) are tumor-suppressor syndromes. Each syndrome is an orphan disease; however, the tumors that arise within them represent the most common tumors of the nervous system worldwide. Systematic investigation of the pathways impacted by the loss of function of neurofibromin (encoded byNF1) and merlin (encoded byNF2) have led to therapeutic advances for patients with NF1 and NF2. In the syndrome of SWN, the genetic landscape is more complex, with 2 known causative genes (SMARCB1andLZTR1) accounting for up to 50% of familial SWN patients. The understanding of the molecular underpinnings of these syndromes is developing rapidly and offers more therapeutic options for the patients. In addition, common sporadic cancers harbor somatic alterations inNF1(ie, glioblastoma, breast cancer, melanoma),NF2(ie, meningioma, mesothelioma) andSMARCB1(ie, atypical teratoid/rhabdoid tumors) such that advances in management of syndromic tumors may benefit patients both with and without germline mutations. In this review, we discuss the clinical and genetic features of NF1, NF2 and SWN, the therapeutic advances for the tumors that arise within these syndromes and the interaction between these rare tumor syndromes and the common tumors that share these mutations.

PMID: 26851632 [PubMed - indexed for MEDLINE]

A Rare Case of Q Fever Osteomyelitis in a Child From Regional Australia.

J Pediatric Infect Dis Soc. 2015 Sep;4(3):e28-31

Authors: Britton PN, Macartney K, Arbuckle S, Little D, Kesson A

Abstract
Q fever osteomyelitis is a rare disease. We report an eighth pediatric case from regional Australia. Serology is the first-line diagnostic test, with confirmation by PCR on tissue specimens. In endemic settings, Q fever should be considered in the differential diagnosis of chronic osteomyelitis; in particular, presumed chronic-recurrent multifocal osteomyelitis should be considered a possible presentation of Q fever osteo-articular disease in children.

PMID: 26407439 [PubMed - indexed for MEDLINE]

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

Fertil Steril. 2017 Jul;108(1):168-174

Authors: van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME

Abstract
OBJECTIVE: To study pregnancy chance in adult women with classic galactosemia and primary ovarian insufficiency. Despite dietary treatment, >90% of women with classic galactosemia develop primary ovarian insufficiency, resulting in impaired fertility. For many years, chance of spontaneous conception has not been considered, leading to counseling for infertility. But an increasing number of reports on pregnancies in this group questions whether current counseling approaches are correct.
DESIGN: Multicenter retrospective observational study.
SETTING: Metabolic centers.
PATIENT(S): Adult women (aged >18 y) with confirmed classic galactosemia and primary ovarian insufficiency were included.
INTERVENTION(S): Participants and medical records were consulted to obtain study data in a standardized manner with the use of a questionnaire.
MAIN OUTCOME MEASURE(S): Conception opportunities, time to pregnancy, pregnancy outcome, hormone replacement therapy use, fertility counseling, and the participants' vision of fertility were evaluated. Potential predictive factors for increased pregnancy chance were explored.
RESULT(S): Eighty-five women with classic galactosemia and primary ovarian insufficiency participated. Twenty-one women actively attempted to conceive or did not take adequate contraceptive precautions. Of these 21 women, nine became pregnant spontaneously (42.9%). This was higher than reported in primary ovarian insufficiency due to other causes (5%-10%). After a period of 12 months, a cumulative proportion of 27.8% of couples had conceived, which increased to 48.4% after 24 months and 61.3% after 27 months. Predictive factors could not be identified. A considerable miscarriage rate of 30% was observed (6 of 20 pregnancies). Although a substantial proportion of women expressed a child-wish (n = 28/53; 52.8%), the vast majority of participants (n = 43/57; 75.4%) considered conceiving to be highly unlikely, owing to negative counseling in the past.
CONCLUSION(S): The pregnancy rate in women with classic galactosemia and primary ovarian insufficiency was higher than for women with primary ovarian insufficiency of any cause. This shifting paradigm carries significant implications for fertility counseling and potential application of fertility preservation techniques.

PMID: 28579413 [PubMed - indexed for MEDLINE]

Epidermolysis bullosa House Austria and Epidermolysis bullosa clinical network : Example of a centre of expertise implemented in a European reference network to face the burden of a rare disease.

Wien Klin Wochenschr. 2017 Jan;129(1-2):1-7

Authors: Laimer M, Pohla-Gubo G, Diem A, Prodinger C, Bauer JW, Hintner H

Abstract
Accurately addressing the diverse and complex issues of rare diseases (RD) in terms of prevention, recognition, diagnosis, treatment, care and research along key RD specificities, such as great heterogeneity, a limited number of patients, scarcity of relevant knowledge and expertise as well as enormous costs for patient care is a challenging task for healthcare providers and authorities that makes a supranational approach particularly feasible. The European Union has acknowledged RD matters by several initiatives, including efforts to implement national centres of expertise and European reference networks as well as a cross-border referral mechanism to foster access to expert services and to boost dissemination of clinical expertise and research activities. Exemplified by the EB House Austria, a centre of expertise for epidermolysis bullosa cross-linked with international reference partner institutions, this strategy proves its potential to be translated into optimized patient care and to meet the major medical, scientific, social and health-economic impact of RD.

PMID: 27909793 [PubMed - indexed for MEDLINE]

["Manubriosternal Synchondrosis": A Rare Problem in Sports Medicine].

Sportverletz Sportschaden. 2016 Dec;30(4):229-231

Authors: Rist A, Willscheid G, Rasch H, Paul J

Abstract
Non-traumatic, inflammatory and painful lesions of the manubriosternal joint are rare pathologies and, to our knowledge, have not been described in the literature of sports medicine. We report the case of a 30-year-old male strength athlete who developed chronic pain in the manubriosternal joint after exercise. Four-month abstinence from exercise combined with a conservative rehabilitation program performed after clinical and radiological tests did not bring any symptomatic relief. After a local ultrasound-guided single-shot sclerotherapy procedure performed in our clinic, the patient was free of symptoms and quickly regained his ability to exercise.

PMID: 27825179 [PubMed - indexed for MEDLINE]