Surgical treatment of megaduodenum in familial visceral myopathy - report of a case and review of the literature.

Acta Chir Belg. 2016 Oct;116(5):305-308

Authors: Papis D, Marangoni G

Abstract
INTRODUCTION: Familial visceral myopathy (VM) is a rare genetic disease that affects intestinal motility and results in pseudo-obstruction. Medical treatments can provide supportive measures but no curative treatment.
CASE REPORT: A 20-year-old male with known diagnosis of VM was referred to our Unit in May 2013 with recurrent episodes of vomiting and hospital admissions not responding to medical treatment. Pre-operative imaging showed megaduodenum with marked delayed transit and normal small and large bowel transit. He underwent an elective Roux-en-Y duodeno-jejunostomy. The post-operative course was uneventful with complete resolution of the symptoms with a 2 years follow-up.
DISCUSSION: Due to the early age of presentation, VM affects patient both psychologically and physically. Surgical treatment of megaduodenum in visceral myopathy in the absence of motility disorder of the small bowel seems to achieve satisfactory symptomatic relief and could be considered in this rare cohort of patients.

PMID: 27410460 [PubMed - indexed for MEDLINE]

Traumatic herniation of the lung.

Acta Chir Belg. 2016 Oct;116(5):322-324

Authors: Corten BJ, Dijk WA, Bilderbeek-Beckers M, Janzing HM

Abstract
We present a relatively rare clinical presentation of herniation of lung parenchyma. In our case, the patient suffered multiple rib fractures, with an intercostal herniation of lung tissue after a trauma. We opted for a conservative treatment, given the clinical presentation, and the absence of incarceration or strangulation of the pulmonary tissue. In the absence of clear guidelines for this rare presentation, current treatment can be conservative or surgical, depending on the clinical presentation.

PMID: 27397036 [PubMed - indexed for MEDLINE]

Three cases of triple A syndrome (Allgrove syndrome) in pediatric surgeons' view.

Acta Chir Belg. 2016 Apr;116(2):119-21

Authors: Erginel B, Gün F, Kocaman H, Çelik A, Salman T

Abstract
Triple A syndrome, also known as Allgrove syndrome, is a rare disease, and presents mainly in children. Its cardinal symptoms are achalasia, alacrima, and adrenocorticotropic hormone (ACTH) insensitivity. We report three cases of Triple A syndrome. Our aim is to inform pediatric surgeons about the existence of this rare syndrome and to highlight the need for suspicion of alacrima and ACTH insensitivity in cases of pediatric achalasia. Triple A syndrome should be considered in patients presenting with achalasia. Alacrima should be investigated by a Schirmer test, and adrenal dysfunction should be tested in cases of suspected triple A.

PMID: 27385299 [PubMed - indexed for MEDLINE]

Superior mesenteric artery (Wilkie's) syndrome: a rare cause of upper gastrointestinal system obstruction.

Acta Chir Belg. 2016 Apr;116(2):81-8

Authors: Oguz A, Uslukaya O, Ülger BV, Turkoglu A, Bahadır MV, Bozdag Z, Böyük A, Göya C

Abstract
Background Superior mesenteric artery syndrome (SMAS) results from the compression of the third part of the duodenum between the aorta and the proximal part of the superior mesenteric artery (SMA). Clinical presentation of SMAS is characterized by the dilatation of the proximal part of the third part of the duodenum. SMAS is a rare cause of the upper gastrointestinal system (UGS) obstruction. In this study, we aimed to present our clinical experience in the treatment of five patients with SMAS, which is a rare clinical condition requiring surgery. Patients and methods The retrospective study included five patients who were treated due to SMAS at our clinic between January 2010 and January 2014. Results All the patients were underweight, with a mean BMI of 15.73 (14-16). The clinical symptoms included epigastric pain after food intake, large volume bilious emesis, early satiety, failure to gain weight, indigestion, esophageal reflux, sense of fullness, and persistent weight loss. SMAS was diagnosed using barium meal studies, upper gastrointestinal endoscopy, abdominal ultrasonography, and CT angiography. Four patients underwent duodenojejunostomy and one patient was managed with gastrojejunostomy. No complication was observed during the postoperative period, and all the patients achieved significant improvement in symptoms. Conclusion SMAS is a rare cause of UGS obstruction, and the diagnosis of SMAS is often delayed. SMAS should be suspected in the differential diagnosis of the patients with unsubstantiated symptoms of persistent nausea, emesis, and significant weight loss.

PMID: 27385294 [PubMed - indexed for MEDLINE]

Video-assisted thoracoscopic surgery for adult Bochdalek hernia: a case report.

J Cardiothorac Surg. 2016 Dec 01;11(1):165

Authors: Shen YG, Jiao NN, Xiong W, Tang Q, Cai QY, Xu G, Liang GY

Abstract
BACKGROUND: Bochdalek hernia is a type of congenital diaphragmatic hernia that typically presents in childhood, while this diseases is extremely rare in adults.
CASE PRESENTATION: We review a case of a 63-year-old man with a left-sided Bochdalek hernia who was experiencing occasional pain at the left side of his chest for 8 months. The diagnosis of Bochdalek hernia was made by chest computed tomography. A part of the retroperitoneal adipose tissue was herniated into the left thoracic cavity through the diaphragmatic defect. The hernia was treated via video-assisted thoracoscopic surgery and he made an uneventful recovery.
CONCLUSIONS: We report a rare case of a left-sided Bochdalek hernia for which our patient was treated successfully via video-assisted thoracoscopic surgery. Even though rare, this disorder should be recognised, examined and treated appropriately to avoid complications.

PMID: 27906021 [PubMed - indexed for MEDLINE]

Constitutional Trisomy 8 Mosaicism with Persistent Macrocytosis.

Cytogenet Genome Res. 2016;150(1):35-39

Authors: Altıner Ş, Kutlay NY, İlhan O

Abstract
Constitutional trisomy 8 mosaicism (CT8M) is a rare chromosomal abnormality. The phenotype varies from normal features to severe malformations. CT8M increases the risk of developing leukemia and myelodysplastic syndrome. As CT8M is very rare, its diagnosis can easily be overlooked, especially in cases with mild phenotypes. Here, we report the diagnostic process of a 40-year-old female patient with CT8M and discuss the importance of follow-up in monitoring for hematological malignancies.

PMID: 27838684 [PubMed - indexed for MEDLINE]

Traumatic Rupture of Extra-adrenal Pheochromocytoma.

Am Surg. 2016 May;82(5):111-3

Authors: Bohlok A, Chehabeddine R, Safa A, Tabbara M

PMID: 27215711 [PubMed - indexed for MEDLINE]

Building a lineage from single cells: genetic techniques for cell lineage tracking.

Nat Rev Genet. 2017 Jan 23;:

Authors: Woodworth MB, Girskis KM, Walsh CA

Abstract
Resolving lineage relationships between cells in an organism is a fundamental interest of developmental biology. Furthermore, investigating lineage can drive understanding of pathological states, including cancer, as well as understanding of developmental pathways that are amenable to manipulation by directed differentiation. Although lineage tracking through the injection of retroviral libraries has long been the state of the art, a recent explosion of methodological advances in exogenous labelling and single-cell sequencing have enabled lineage tracking at larger scales, in more detail, and in a wider range of species than was previously considered possible. In this Review, we discuss these techniques for cell lineage tracking, with attention both to those that trace lineage forwards from experimental labelling, and those that trace backwards across the life history of an organism.

PMID: 28111472 [PubMed - as supplied by publisher]

Diffuse White Stuff in the Lungs: Challenges and Advances.

Radiol Clin North Am. 2016 Nov;54(6):xv

Authors: Kanne JP

PMID: 27719985 [PubMed - indexed for MEDLINE]

Imaging of Idiopathic Pulmonary Fibrosis.

Radiol Clin North Am. 2016 Nov;54(6):997-1014

Authors: Kusmirek JE, Martin MD, Kanne JP

Abstract
Idiopathic interstitial pneumonias are a heterogeneous group of diffuse lung diseases characterized by distinct clinicopathologic entities with the usual interstitial pneumonia (UIP) being the most common. The pattern of UIP can be seen in idiopathic pulmonary fibrosis (IPF) as well as in secondary causes, most commonly in connective tissue diseases. IPF is usually progressive and associated with a very poor prognosis, and newer therapies pose a risk of serious complications; therefore, diagnostic certainty is crucial. This article reviews the radiologic findings in UIP with clinical correlation and histopathologic features along with its significance for prognosis and patients monitoring.

PMID: 27719984 [PubMed - indexed for MEDLINE]

Primary high-grade soft-tissue sarcoma of the buttock: a rare but distinct clinical entity.

Br J Radiol. 2016 Jun;89(1062):20151017

Authors: Soyfer V, Corn BW, Bickels J, Merimsky O

Abstract
OBJECTIVE: Sarcoma arising in the region of the buttocks is a rare entity and therefore no consensus regarding management exists in the literature.
METHODS: 16 patients diagnosed with localized, non-metastatic primary soft-tissue sarcoma (STS) in the buttock area, who were consecutively treated between 2005 and 2013, were retrospectively evaluated for the rate of local control, distant metastases and overall survival.
RESULTS: Most tumours were classified as high grade (87.5%). The average time between the appearances of symptoms to diagnosis of sarcoma was 4.5 months. At the end of the observation period, 7 (44%) patients were alive without signs of progressive disease, 37.5% patients died as the disease progressed, 13 patients were free of disease and 3 (19%) patients were alive with signs of progressive disease. Seven (44%) patients developed local recurrence. Six (37.5%) patients developed distant metastases. The lung was the most common site of distant failure (four patients); other sites were the liver as well as the adrenal gland and kidney (one patient). Four patients had both distant and local progression, three patients experienced isolated local recurrence and two patients developed isolated distant metastases. 5-year local recurrence-free survival was 58% and 5-year distant metastases-free survival was 63%.
CONCLUSION: It is unclear whether to subsume STS of the buttock under the rubric of pelvic tumours or tumours of the lower extremity. Either way, STS of the buttock seems to be characterized by local control, freedom from distant relapse and survival, which is inferior to accepted standards for either pelvic or lower extremity sarcomas. To improve this poor outcome, oncologists are encouraged to regard sarcoma of the buttock as a distinct clinical entity and to devise innovative therapeutic strategies accordingly.
ADVANCES IN KNOWLEDGE: Sarcoma of the buttock area should possibly be regarded as a distinct entity.

PMID: 27043867 [PubMed - indexed for MEDLINE]

Rare Cause of Acute Dysphagia Associated with Dysphonia.

Dysphagia. 2016 Feb;31(1):111-3

Authors: Demirhan E, Cukurova I, Tutuncu D, Gumussoy M

PMID: 26497805 [PubMed - indexed for MEDLINE]

McCune-Albright Syndrome: An Overview of Clinical Features.

J Pediatr Nurs. 2015 Sep-Oct;30(5):815-7

Authors: Brillante B, Guthrie L, Van Ryzin C

PMID: 26209174 [PubMed - indexed for MEDLINE]

Lysosomal Proteins as a Therapeutic Target in Neurodegeneration.

Annu Rev Med. 2017 Jan 14;68:445-458

Authors: Mc Donald JM, Krainc D

Abstract
Several proteins that are mutated in lysosomal storage diseases are linked to neurodegenerative disease. This review focuses on some of these lysosomal enzymes and transporters, as well as current therapies that have emerged from the lysosomal storage disease field. Given the deeper genetic understanding of lysosomal defects in neurodegeneration, we explore why some of these orphan disease drug candidates are also attractive targets in subpopulations of individuals with neurodegenerative disease.

PMID: 28099085 [PubMed - in process]

Managed care approach to the treatment of neurogenic orthostatic hypotension.

Am J Manag Care. 2015 Oct;21(13 Suppl):s258-68

Authors: Isaacson SH

Abstract
Neurogenic orthostatic hypotension (NOH) is an orphan disease that primarily affects patients with neurodegenerative disorders such as Parkinson's disease and multiple system atrophy. The first step in the management of NOH is to discontinue or minimize the use of drugs that lower blood pressure. Nonpharmacologic therapy for NOH includes physical countermaneuvers, compression abdominal binders and lower extremity stockings, recognition and avoidance of orthostatic stressors, hydration, and salt supplementation. The management of NOH should also include interventions to prevent falls. Pharmacotherapy for NOH includes the mineralocorticoid drug fludrocortisone to expand plasma volume and the sympathomimetic drugs midodrine and droxidopa. Clinical efficacy, tolerability, and the role of each drug in the treatment paradigm are reviewed here.

PMID: 26790110 [PubMed - indexed for MEDLINE]

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Postal recruitment and consent obtainment from index cases of narcolepsy.

BMC Med Ethics. 2016 Jan 16;17:6

Authors: Aliyu G, Mahmud SM

Abstract
BACKGROUND: Access to research volunteers may be hampered by low numbers of cases and few eligible participants for rare diseases in clinical settings.
METHODS: We recruited volunteers and obtained informed consent by mail from narcolepsy cases in a case-control study, and here in we report feasibility, response rate, timeliness and cost. We invited index cases into the study by mail through their care-giving physicians then mailed study information and consent forms to cases that indicated interest in the study.
RESULTS: Of the 33 index cases invited, 15 (45.0%) expressed interest in the study, and of those, 14 (93.3%) returned their signed informed consents by mail. The median number of days from invitation to consent return was 39, interquartile range = 45, and the cost per consent obtained from the recruited subjects was $ 23.61.
CONCLUSION: In this setting, postal recruitment for biomedical research on rare conditions is feasible and time and cost effective.

PMID: 26772982 [PubMed - indexed for MEDLINE]

Superficial morphea of the lips and gingiva.

Acta Dermatovenerol Croat. 2015;23(2):152-4

Authors: Vučićević Boras V, Gabrić D, Brailo V, Čikeš N, Velimir Vrdoljak D

PMID: 26228830 [PubMed - indexed for MEDLINE]

Subcutaneous cavernous angiolipoma: a new soft-tissue entity.

Acta Dermatovenerol Croat. 2015;23(2):144-5

Authors: Roncati L, Pusiol T, Piscioli F, Maiorana A

PMID: 26228827 [PubMed - indexed for MEDLINE]

Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges.

J Bone Miner Res. 2017 Jan 13;:

Authors: Whyte MP

Abstract
At this time last year, 2015, our field achieved a milestone in the management of rickets and osteomalacia. Among the disorders that feature generalized impairment of hard tissue mineralization and its consequences, the final entity lacking a medical treatment acquired one sanctioned internationally by regulatory agencies. The holdout was hypophosphatasia (HPP), the inborn-error-of-metabolism identified in 1948 and caused by loss-of-function mutation(s) of the TNSALP (ALPL) gene that encodes the "tissue-nonspecific" isoenzyme of alkaline phosphatase (TNSALP). The therapy is asfotase alfa, a recombinant mineral-targeted ALP now approved for pediatric-onset HPP. This advance ended hopelessness for many HPP patients, and offers physicians successes in treating an orphan disease. However, as I will discuss, a number of challenges call for further progress and an especially thorough understanding of HPP, including its remarkably wide-ranging severity. Reviews concerning HPP, including comprehensive reports from testing this biologic in pediatric patients,have been published recently. This article is protected by copyright. All rights reserved.

PMID: 28084648 [PubMed - as supplied by publisher]