Boerhaave's Syndrome: Delayed Management Using Over-the-Scope Clip.

Am J Case Rep. 2019 Jun 10;20:816-821

Authors: Al-Zahir AA, AlSaif OH, AlNaimi MM, Almomen SAM, Meshikhes AN

Abstract
BACKGROUND The diagnosis of Boerhaave's syndrome is often missed or delayed. This subsequently leads to a high mortality rate, which could be greatly reduced if treatment is instituted early, within 24 hours of perforation. Treatment ranges from conservative management to operative intervention depending on the time of presentation and the patient's clinical condition. Endoscopic intervention in the form of over-the-scope clip (OTSC) application is gaining popularity with very promising results. CASE REPORT A 43-year-old male was diagnosed with Boerhaave's syndrome and treated initially by insertion of bilateral chest drainage, intravenous broad-spectrum antibiotics, and total parenteral nutrition. He was transferred to our facility 9 days later. Upper gastrointestinal endoscopy revealed a 1.5 cm deep longitudinal ulcer involving the distal esophagus and extending to the Z-line. Due to the perforation site, a size 12 OTSC clip was used. Application of a second clip was needed to achieve complete closure of the perforation site. Contrast swallow was done 4 days later showed no leak. The patient was started on oral intake and was discharged home in good general condition after a hospital stay of 16 days. CONCLUSIONS Delayed presentation of Boerhaave's syndrome can be treated safely by an over-the-scope clip. This endoscopic method hastens recovery and shortens the hospital stay.

PMID: 31178585 [PubMed - indexed for MEDLINE]

Coronary Artery Bypass Grafting in a Patient with Situs Inversus Totalis.

Am J Case Rep. 2019 Jun 08;20:806-809

Authors: Zhigalov K, Ponomarev D, Sozkov A, Kadyraliev B, Easo J, Weymann A

Abstract
BACKGROUND We report a rare case of total arterial coronary artery bypass grafting (CABG) in a patient with situs inversus totalis (SIT). SIT is a rare variant of biologically normal anatomy, in which the main internal organs are mirrored compared to normal localization. CASE REPORT A 50-year-old patient with SIT and severe coronary stenosis of the left anterior descending artery (LAD) and the ramus circumflexus (RCX) was admitted to our hospital. CABG was performed promptly using 2 conduits. After medial sternotomy, both mammary arteries were isolated by the skeletal method. Next, the cannulation of the aorta and the physiologically right atrium was performed. Custodiol cardioplegia was performed antegrade in a single shot. The left internal mammary artery (LIMA) was anastomosed to the LAD and the right internal mammary artery (RIMA) to the RCX. The aortic clamping time was 29 minutes. The operation was completed without complications. The patient was extubated 6 hours after surgery. On the first postoperative day, the patient was transferred to a regular ward. Postoperative therapy was performed without complications. CONCLUSIONS Surgical correction is indicated for many patients with SIT in combination with coronary heart disease. Performing a CABG operation on these patients requires the operating team to have certain skills. Surgeons face a number of problems and issues: preoperative preparation of the patient, the position of the surgeon to the left or right during the operation, the choice of conduit for anastomosis, and the tactics of the operation.

PMID: 31175268 [PubMed - indexed for MEDLINE]

An Unusual Cutaneous Recurrence of Carcinoma in the Mastectomy Bed and Its Imaging Features: A Case Report.

Am J Case Rep. 2019 Jun 07;20:800-805

Authors: Kim SJ, Kim JY

Abstract
BACKGROUND Chest wall recurrences of carcinoma after mastectomy usually involve subcutaneous tissue or the deep muscular layer. Recurrences arising in the skin are rare, and there are few reports of the associated radiologic features. This report presents an unusual case of cutaneous recurrence in the mastectomy bed and demonstrates its radiologic features using sonography and magnetic resonance imaging (MRI). CASE REPORT A 44-year-old woman presented with a palpable lump in the inferomedial area of the right chest wall. Six years ago, she had undergone total mastectomy for ductal carcinoma in situ in her right breast. Sonography showed an indistinct, oval, heterogeneous echoic mass measuring 0.9 cm, confined within the skin layer, corresponding to the palpable lump. A color Doppler sonogram showed minimal, spotted vascularity in and around the mass. Sonography-guided fine-needle aspiration biopsy was performed, revealing multiple clusters of atypical cells, suggestive of ductal carcinoma. On subsequent breast MRI, the mass, measuring 1.3 cm, was again localized to the skin; dynamic contrast-enhanced scans showed a circumscribed margin, oval shape, and rim enhancement (morphology) and slow initial enhancement and persistent delayed enhancement (kinetics). The mass was surgically excised and the pathological examination confirmed the diagnosis as recurrent invasive ductal carcinoma in the dermis. CONCLUSIONS Cutaneous recurrence in the mastectomy bed can manifest as a mass with suspicious radiologic features: indistinct margin on the sonogram and rim enhancement on the MRI. Awareness of such radiologic features may aid in differentiating between the various cutaneous manifestations encountered after mastectomy.

PMID: 31171763 [PubMed - indexed for MEDLINE]

Verrucous Plaques of the Buttocks, Perineum, and Umbilicus.

Gastroenterology. 2019 12;157(6):1480-1482

Authors: Bittar JM, Burton K, Rahnama S

PMID: 31310743 [PubMed - indexed for MEDLINE]

Woakes Syndrome: A Rare Cause of Proptosis due to Sinonasal Polyposis.

Ophthalmic Plast Reconstr Surg. 2019 Jul/Aug;35(4):e102-e104

Authors: Cruz AAV, Chahud F, Akaishi PMS, Enz TJ

Abstract
The authors report 2 consecutive adult male patients, aged 61 and 38 years, who presented with painless unilateral proptosis. Their past medical histories were negative for asthma, allergies, and Graves disease. On examination, the nose bridge of the eldest patient was clearly enlarged. Computed tomography scans of the orbits and paranasal sinuses showed in both patients the same radiologic pattern of hyperdense ethmoidal opacifications and expansion of the inferomedial orbital floor. Histopathological analysis of the ethmoidal cells mucosa obtained during inferomedial decompression revealed benign sinonasal polyposis. These cases demonstrate that asymptomatic sinonasal polyposis can be a rare cause of proptosis.

PMID: 31283698 [PubMed - indexed for MEDLINE]

Angiofibroma of the Eyelid: A Rare Clinical and Histologic Variant.

Ophthalmic Plast Reconstr Surg. 2019 Jul/Aug;35(4):e199-e102

Authors: Charles NC, Jakobiec FA, Ma L, Belinsky I

Abstract
A flesh-colored, supraciliary lesion of the left upper eyelid in a 47-year-old man was excised for cosmetic reasons. Histopathology and immunohistochemistry demonstrated CD34-positive benign spindle cells, factor XIIIa-positive dendritic cells, and CD163-positive histiocytes, all dispersed within a diffuse collagenous background. Prominent loose perivascular cuffs of fibroblastic cells and collagen surrounded small blood vessels. Interpreted as an angiofibroma, the histopathology bore resemblance to that of a single previously-reported forearm lesion termed a "dermal fibroma with a distinctive perivascular cell arrangement." The lesion represents the first eyelid example of an unusual variant of angiofibroma.

PMID: 31206457 [PubMed - indexed for MEDLINE]

Personalization of therapies in rare diseases: a translational approach for the treatment of cystic fibrosis.

Minerva Pediatr. 2019 Aug;71(4):362-370

Authors: Villella VR, Tosco A, Esposito S, Ferrari E, Bona G, Kroemer G, Raia V, Maiuri L

Abstract
High variability in the response rates to treatments can make the interpretation of data from clinical trials very difficult, particularly in rare genetic diseases in which the enrolment of thousands of patients is problematic. Personalized medicine largely depends on the establishment of appropriate early detectors of drug efficacy that may guide the administration (or discontinuation) of specific treatments. Such biomarkers should be capable of predicting the therapeutic response of individual patients and of monitoring early benefits of candidate drugs before late clinical benefits become evident. The identification of these biomarkers implies a rigorous stepwise process of translation from preclinical evaluation in cultured cells, suitable animal models or patient-derived freshly isolated cells to clinical application. In this review, we will discuss how a process of research translation can lead to the implementation of functional and mechanistic disease-relevant biomarkers. Moreover, we will address how preclinical data can be translated into the clinic in a personalized medical approach that can provide the right drug to the right patient within the right timeframe.

PMID: 30761822 [PubMed - indexed for MEDLINE]

A rare case of stent-assisted coil embolization of coronary artery aneurysm in the left main trigeminal position: Case report.

Medicine (Baltimore). 2019 Dec;98(50):e18173

Authors: Chen Y, Liu M, Ren K, Wang M, Zhang F, Jia D

Abstract
RATIONALE: Coronary artery aneurysms (CAAs) are uncommon in patients with acute coronary syndrome (ACS). We describe the clinical features and outcomes of stent-assisted coil embolization of a CAA in the trigeminal position.
PATIENT CONCERNS: We present a 73-year-old woman with a history of paroxysmal episodes of precordial pain since 1 year. Coronary computed tomography angiography (CTA) revealed an aneurysm (diameter: 9 mm) at the junction of the distal left main coronary artery and the anterior descending branch. Troponin I, CK-MB, creatinine and routine blood investigations were within the normal range.
DIAGNOSIS: Coronary artery aneurysm in the left main trigeminal position.
INTERVENTIONS: The patient was treated with stent-assisted coil embolization.
OUTCOMES: After complete filling of the aneurysm with coil, the microcatheter was withdrawn and the stent released in the descending branch. Two stents were successfully implanted.
LESSONS: There is no clear consensus on the optimal therapy for patients with CAAs. Clinicians should be aware of the possible complications of stent-assisted coil embolization of CAA in the main trunk of the coronary artery.

PMID: 31852073 [PubMed - indexed for MEDLINE]

Klippel-Feil Syndrome with Sprengel Deformity.

J Radiol Case Rep. 2019 May;13(5):24-29

Authors: Georgiev GP, Groudeva V

Abstract
Coexistence of Klippel-Feil syndrome with Sprengel deformity and omovertebral bone is a rare complex bone abnormality with unknown incidence and etiology. Herein, we report a case of a 6-year-old girl with coexistence of these congenital abnormalities evaluated by three-dimensional computed tomography. We also make a brief review and discuss in details the role of this imaging modality in the evaluation of such complex cases.

PMID: 31558956 [PubMed - indexed for MEDLINE]

The stable rower: identifying a rare disease.

Br J Gen Pract. 2019 Feb;69(679):86

Authors: Badcock T

PMID: 30705012 [PubMed - indexed for MEDLINE]

Incidence and outcomes of rare paediatric non-hodgkin lymphomas.

Br J Haematol. 2019 03;184(5):864-867

Authors: Sorge C, Costa LJ, Taub JW, S Cairo M, Xavier AC

PMID: 29611181 [PubMed - indexed for MEDLINE]

[Hemophagocytic lymphohistiocytosis: a rare disease with tough problems].

Zhonghua Er Ke Za Zhi. 2019 Oct 02;57(10):740-742

Authors: Zhang R, Wang TY

PMID: 31594057 [PubMed - indexed for MEDLINE]

Preliminary development of proxy-rated quality-of-life scales for children and adults with Niemann-Pick type C.

Qual Life Res. 2019 Nov;28(11):3083-3092

Authors: Aston L, Shaw R, Knibb R

Abstract
OBJECTIVES: Niemann-Pick disease type C (NPC) is a rare life-limiting disease for which there is no cure. No scales currently exist to measure the impact of medication, physical therapy or clinical trials. The aim of this study was to develop age-appropriate Quality-of-Life (QoL) scales to measure the impact of NPC on children and adults.
DESIGN: Scale development study using a phenomenological approach to data generation and analysis.
METHODS: Fourteen interviews were conducted with people living with NPC and/or their parents/carers. Themes were generated and examined against an existential-phenomenological theory of wellbeing. A matrix was constructed to represent the phenomenological insight gained on participants' subjective experiences and a bank of items that were related to their QoL was developed.
RESULTS: NPC quality-of-life questionnaires for children (NPCQLQ-C) and adults (NPCQLQ-A) proxy prototype scales were produced and completed by 23 parents/carers of children (child age mean = 8.61 years) and 20 parents/carers of adults (adult age = 33.4 years). Reliability analysis resulted in a 15-item NPCQLQ-C and a 30-item NPCQLQ-A, which showed excellent internal consistency, Cronbach's α = 0.925 and 0.947, respectively.
CONCLUSION: The NPCQLQ-C and NPCQLQ-A are the first disease-specific QoL scales to be developed for people living with NPC. This novel approach to scale development values the experiential, real life impact of living with NPC and focused on the lived-experiences and impact on QoL. The scales will enable healthcare professionals and researchers to have a better understanding and quantifiable measurement of the impact of living with NPC on a patient's daily life.

PMID: 31227959 [PubMed - indexed for MEDLINE]

Hypereosinophilic syndrome presenting with bilateral ear fullness.

Eur Ann Otorhinolaryngol Head Neck Dis. 2019 Jun;136(3):199-201

Authors: Jung HJ, Yu GH, Park JH

Abstract
INTRODUCTION: Hypereosinophilic syndrome is a rare disease with hypereosinophilia resulting in end-organ dysfunction. Patients present with organ-associated symptoms, and the targets frequently affected are heart, lung, skin, or the nervous system, and the middle ear involvement is rare.
CASE REPORT: A 30-year-old female with left ear fullness and hearing loss, which persisted for 6months, was finally diagnosed with hypereosinophilic syndrome (HES). After high dose systemic steroids treatment, all symptoms improved.
CONCLUSION: Eosinophilic otitis media and HES involving the middle ear share many clinical manifestations. Prompt and accurate differential diagnosis is required for these diseases to ameliorate symptoms and promote recovery.

PMID: 30683419 [PubMed - indexed for MEDLINE]

Why is it so difficult for GPs to effectively manage patients with rare skin diseases?

Presse Med. 2019 Dec;48(12):e382-e388

Authors: Baqué M, Colineaux H, Dreyfus I, Mesthé P, Mazereeuw-Hautier J

Abstract
BACKGROUND: Rare diseases are defined by a prevalence of less than one out of 2000 persons. In clinical practice, their management is difficult, due to their diversity, their complexity and a lack of adapted physician training.
OBJECTIVE: The aims of this study were to identify rare skin diseases in a reference center, to describe the difficulties encountered by general practitioners (GPs) in management of these uncommon cases, and to pinpoint the characteristics of the GPs having the most problems.
METHODS: A survey conducted from March to June 2017 involving GPs at least one of whose rare skin disease patients was being monitored in a reference center.
RESULTS: All in all, 96/195 (49.2%) of the GPs contacted completed the questionnaire, and virtually all of them (95%) reported five main categories of difficulties: giving a diagnosis, monitoring treatment, coordinating care, providing support, and ensuring management of intercurrent pathologies. The most widely reported difficulties were related to diagnosis (88.5%) and care coordination (76%). The GPs most in need of assistance were those practicing in rural areas (11 times more likely to experience difficulties), those with over 10 years of experience (up to 9.8 times more risk) and those not considering their role in the management of patients with rare diseases as instrumental (2.28 times more risk).
CONCLUSIONS: This study brought to light the difficulties encountered by GPs in management of patients with rare skin diseases. We identified those the most in need of assistance, who are to be targeted for actions aimed at improving the care and treatment of patients suffering from rare skin diseases.

PMID: 31757737 [PubMed - indexed for MEDLINE]

[Rare diseases].

Pathologe. 2019 11;40(6):582

Authors: Röcken C

PMID: 31664541 [PubMed - indexed for MEDLINE]

Preclinical rare cancer research to inform clinical trial design.

Nat Rev Cancer. 2019 09;19(9):481-482

Authors: Barker HE, Scott CL

PMID: 31263218 [PubMed - indexed for MEDLINE]

Amyand's hernia: role of CT for a correct diagnosis.

G Chir. 2019 Jan-Feb;40(1):44-48

Authors: Drago A, Carbone M, Lorusso V, Moschetta M, Scardapane A, Lucarelli N, Angelelli G, Stabile Ianora AA

Abstract
Amyand's hernia consists in the protrusion of the vermiform appendix into an inguinal hernia sac and represents an uncommon condition with a difficult preoperative diagnosis to be recognized with clinical examination and imaging diagnostic tools in order to choose a correct therapeutic approach for the patient. Four types of Amyand's hernias exist. The case of a recurrent type 1 Amyand's hernia is presented. Multi detector computed tomography allowed a correct diagnosis and the subsequent surgical treatment had no complication for the patient. Radiologists and surgeons need to be aware of this pathology and its classification, as well as of the importance of recognizing both the inflamed and normal appendix within the inguinal canal and the abdominal complications. With the availability of multi detector CT scanning, a greater number of type 1 and 2 hernias are able to be preoperatively diagnosed, and type 3 and 4 better characterized in emergency situation, allowing to perform the best surgical treatment and reducing the chances of pathological recurrence.

PMID: 30771798 [PubMed - indexed for MEDLINE]

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.

EBioMedicine. 2019 Dec 06;:

Authors: Meinke P, Kerr ARW, Czapiewski R, de Las Heras JI, Dixon CR, Harris E, Kölbel H, Muntoni F, Schara U, Straub V, Schoser B, Wehnert M, Schirmer EC

Abstract
BACKGROUND: As genome-wide approaches prove difficult with genetically heterogeneous orphan diseases, we developed a new approach to identify candidate genes. We applied this to Emery-Dreifuss muscular dystrophy (EDMD), characterised by early onset contractures, slowly progressive muscular wasting, and life-threatening heart conduction disturbances with wide intra- and inter-familial clinical variability. Roughly half of EDMD patients are linked to six genes encoding nuclear envelope proteins, but the disease mechanism remains unclear because the affected proteins function in both cell mechanics and genome regulation.
METHODS: A primer library was generated to test for mutations in 301 genes from four categories: (I) all known EDMD-linked genes; (II) genes mutated in related muscular dystrophies; (III) candidates generated by exome sequencing in five families; (IV) functional candidates - other muscle nuclear envelope proteins functioning in mechanical/genome processes affected in EDMD. This was used to sequence 56 unlinked patients with EDMD-like phenotype.
FINDINGS: Twenty-one patients could be clearly assigned: 18 with mutations in genes of similar muscular dystrophies; 3 with previously missed mutations in EDMD-linked genes. The other categories yielded novel candidate genes, most encoding nuclear envelope proteins with functions in gene regulation.
INTERPRETATION: Our multi-pronged approach identified new disease alleles and many new candidate EDMD genes. Their known functions strongly argue the EDMD pathomechanism is from altered gene regulation and mechanotransduction due to connectivity of candidates from the nuclear envelope to the plasma membrane. This approach highlights the value of testing for related diseases using primer libraries and may be applied for other genetically heterogeneous orphan diseases.
FUNDING: The Wellcome Trust, Muscular Dystrophy UK, Medical Research Council, European Community's Seventh Framework Programme "Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS)".

PMID: 31862442 [PubMed - as supplied by publisher]

Comparison of screening tests without a gold standard-A pragmatic approach with virtual reference testing.

Acta Trop. 2019 Nov;199:105118

Authors: Hahn A, Schwarz NG, Frickmann H

Abstract
Well-defined diagnostic gold standards are rarely available for the diagnosis of rare diseases such as some tropical infections. Algorithms for reliable test evaluation without gold standard are therefore desirable. On the basis of previous work of Gart and Buck (1966); Rogan and Gladen (1978), and Hui and Walter (1980), a modeling approach for the comparison of diagnostic tests without a gold standard - and thus without reliably characterized reference sample material - is established especially for situations not fulfilling the requirement of conditional independence of the diagnostic tests evaluated. In the approach introduced, each test is conducted within two populations with different values of prevalence and the test results are used to define two virtual reference tests. The model is useful for the comparison of tests for rare tropical diseases where no gold standard can be provided.

PMID: 31369728 [PubMed - indexed for MEDLINE]