Sore throat and an ache radiating from the centre of the anterior neck to the both ears and the occiput.Idiopathic Carotidynia,TransIent Perivascular Inflammation of the Carotid artery (TIPIC) syndrome,Vascular Neck Pain,Painful carotid artery,Inflammation of Carotid artery and neck pain,Carotidynia on ultrasound and magnetic resonance imaging,CT findings in a patient with bilateral metachronous carotidyniaContralateral recurrence of carotidynia during steroid therapy,,Carotidynia Possibly due to Localized Vasculitis,

Carotidynia

From Wikipedia, the free encyclopedia

Drawing from Gray’s anatomy with blue arrow showing the bifurcation area which is painful in Carotidynia.

Carotidynia is a syndrome characterized by unilateral (one-sided) tenderness of the carotid artery, near the bifurcation. It was first described in 1927 by Temple Fay.[1] The most common cause of carotidynia may be migraine, and then it is usually self-correcting. Common migraine treatments may help alleviate the carotidynia symptoms. Recent histological evidence has implicated an inflammatory component of carotidynia, but studies are limited.[2] Carotid arteritis is a much less common cause of carotidynia, but has much more serious consequences. It is a form ofgiant cell arteritis, which is a condition that usually affects arteries in the head. Due to this serious condition possibly causing carotidynia, and the possibility that neck pain is related to some other non-carotidynia and serious condition, the case should be investigated by a medical doctor.[3]Because carotidynia can be caused by numerous causes, Biousse and Bousser in 1994 recommended the term not be used in the medical literature.[4] However, recent MRI and ultrasound studies have supported the existence of a differential diagnosis of carotidynia consistent with Fay’s characterization.[5][6]

References

  1. Hill and Hastings list this reference as: Fay, Temple (1927) "Atypical neuralgia." Arch Neurol Psychiatry.
  2. Upton, P.; Smith, J. G.; Charnock, D. R. (2003). "Histologic confirmation of carotidynia". Otolaryngology – Head and Neck Surgery. 129 (4): 443–444. doi:10.1016/S0194-5998(03)00611-9. PMID 14574303.
  3. Hill LM, Hastings G (1994). "Carotidynia: a pain syndrome.". J Fam Pract. 39 (1): 71–5. PMID 8027735.
  4. Biousse V, Bousser MG (1994). "The myth of carotidynia.". Neurology. 44 (6): 993–5. doi:10.1212/wnl.44.6.993. PMID 8208434.Available here
  5. Lee TC, Swartz R, McEvilly R, Aviv RI, Fox AJ, Perry J, Symons SP. CTA, MR and MRA imaging of carotidynia: case report. Canadian Journal of Neurological Sciences. 2009 May; 36(3):373-375.
  6. Kuhn, J.; Harzheim, A.; Horz, R.; Bewermeyer, H. (2006). "MRI and ultrasonographic imaging of a patient with carotidynia". Cephalalgia. 26 (4): 483–485. doi:10.1111/j.1468-2982.2006.01053.x. PMID 16556251.

External links

Retrieved from "https://en.wikipedia.org/w/index.php?title=Carotidynia&oldid=768647731"
Categories:

Symptoms and signs: Circulatory system Pain Cardiovascular system stubs

Case Rep Vasc Med. doi: 10.1155/2013/585789
Carotidynia Possibly due to Localized Vasculitis in a Patient with Latent Mycobacterium tuberculosis Infection.
Cassone G1, Colaci M1, Giuggioli D1, Manfredi A1, Sebastiani M1, Ferri C1.
Author information
1Chair and Rheumatology Unit, University of Modena and Reggio Emilia, Medical School, Azienda Ospedaliero-Universitaria, Policlinico di Modena, Via del Pozzo 71, 41100 Modena, Italy.
Abstract
Carotidynia is a syndrome characterized by tenderness of the carotid artery near the bifurcation due to numerous, heterogeneous causes. Here we reported the case of a 31-year-old Moroccan woman with right-sided neck pain and tenderness with irradiation to ipsilateral ear, eye, and occipital region. Clinical symptoms and imaging findings were suggestive of primary variant of carotidynia syndrome. In particular, color-Doppler ultrasonography revealed a concentric wall thickening of the distal common carotid artery, while thoracic magnetic resonance showed localized perivascular enhancement of the soft tissue in the right medial-distal common carotid artery in T1-weighted images, without intraluminal diameter variation. Moreover, careful clinicoserological and imaging investigations (cranial, cervical, and thoracic angiocomputed tomography and magnetic resonance) excluded well-known disorders potentially responsible for carotidynia syndrome. The patient was scarcely responsive to nonsteroidal anti-inflammatory drugs, but clinical symptoms resolved after three months. Of interest, the patient showed latent Mycobacterium tuberculosis infection (positive tuberculosis interferon-gamma release assay; QuantiFERON-TB Gold); this finding suggested a possible triggering role of mycobacterial antigens in the immune-mediated mechanism responsible for localized carotid injury.
PMID: 24363952

J Stroke Cerebrovasc Dis. doi: 10.1016/j.jstrokecerebrovasdis.2012.10.011
Contralateral recurrence of carotidynia during steroid therapy.
Inatomi Y1, Nakajima M2, Yonehara T3, Hirano T4.

Author information
1Department of Neurology, Saiseikai Kumamoto Hospital, Kumamoto, Japan. Electronic address: y.inatomix.
2Department of Neurology, Saiseikai Kumamoto Hospital, Kumamoto, Japan; Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada.
3Department of Neurology, Saiseikai Kumamoto Hospital, Kumamoto, Japan.
4Department of Internal Medicine III, Faculty of Medicine, Oita University, Oita, Japan.
Abstract
A 44-year-old woman presented with contralateral recurrence of carotidynia during steroid therapy at 1 month after onset. Carotidynia can present with a multiphasic clinical course and can affect the neck bilaterally. Therefore, patients with carotidynia should be observed even after remission.
Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.

KEYWORDS:
Carotidynia; arteritis; carotid artery; magnetic resonance imaging; temporal arteritis; ultrasonography
PMID: 23253536

Wien Klin Wochenschr. doi: 10.1007/s00508-014-0633-2
A pain in the throat: a 19-year history of symptoms relating to the carotid artery.
Elkins A1, Barakate M, Henderson J, Grieve S.
Author information
1School of Medicine, The University of New South Wales, Sydney, NSW, Australia.
Abstract
A 38-year-old man presented with a 19-year history of sore throat and an ache radiating from the centre of the anterior neck to the both ears and the occiput. Computed tomography angiography revealed a tortuous submucosal right internal carotid artery, which was causing tonsillar displacement. The diagnosis of carotidynia has a controversial history within the literature and is currently not accepted as a distinct pathological entity by the International Headache Society. In this patient, the clinical and imaging features, in addition to the absence of any other pathology confers support to the diagnosis of carotidynia.
PMID: 25398291

Clin Imaging. 2015 Mar-Apr;39(2):305-7. doi: 10.1016/j.clinimag.2014.12.001
CT findings in a patient with bilateral metachronous carotidynia.
Young JY1, Hijaz TA2, Karagianis AG2.
Author information
1Northwestern Memorial Hospital, Department of Radiology, Neuroradiology Section, 251 East Huron Street, Chicago, IL, 60611. Electronic address: joseph.y.young.
2Northwestern Memorial Hospital, Department of Radiology, Neuroradiology Section, 251 East Huron Street, Chicago, IL, 60611.
Abstract
Carotidynia is a self-limiting, idiopathic clinical syndrome characterized by acute unilateral neck pain and tenderness of the carotid artery. We describe a unique case of bilateral carotidynia that occurred metachronously, with each incident resolving without long-term sequelae. Knowledge of this entity is important to properly interpret the imaging findings and to not mistake this finding as an ill-defined tumor, thus avoiding unnecessary biopsy.
Copyright © 2015 Elsevier Inc. All rights reserved.KEYWORDS:CT; Carotidynia; inflammation; neck; pain.PMID: 25575581

J Mal Vasc. 2015 Dec;40(6):395-8. doi: 10.1016/j.jmv.2015.06.001
Comparative evolution of carotidynia on ultrasound and magnetic resonance imaging.
Behar T1, Menjot N2, Laroche JP3, Böge B3, Quéré I3, Galanaud JP3.
Author information
1Clinical investigation center and department of internal medicine, hôpital de Montpellier, university hospital, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 05, France. Electronic address: t-behar.
2Department of neuroradiology, university hospital, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 05, France.
3Clinical investigation center and department of internal medicine, hôpital de Montpellier, university hospital, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 05, France.
Abstract
Carotidynia is rare and associates neck pain with tenderness to palpation usually over the carotid bifurcation, the diagnosis of which is based on magnetic resonance imaging (MRI). Ultrasounds (US) are also frequently used but their accuracy in predicting the course of the disease is unknown. We are reporting the case of a 52-year-old man who presented a typical carotidynia. Clinical symptoms, ultrasound and MRI imaging evolution were closely correlated. Our case suggest that after a first MRI to set a positive diagnosis of carotidynia and exclude differential diagnoses, US which is more widely available and less expensive could constitute the imaging of reference for the follow-up.
Copyright © 2015 Elsevier Masson SAS. All rights reserved.KEYWORDS:Carotidynia; Carotidynie; Follow-up; Imagerie par résonance magnétique; Magnetic resonance imaging; Suivi; Ultrasonography; Échographie.PMID: 26163344

Vasc Endovascular Surg. 2017 Apr;51(3):149-151. doi: 10.1177/1538574417697212.
Idiopathic Carotidynia.
Policha A1, Williams D2, Adelman M1, Veith F1, Cayne NS1.
Author information
1
1 Division of Vascular and Endovascular Surgery, New York University Langone Medical Center, New York, NY, USA.
2
2 Department of General Surgery, New York University Langone Medical Center, NY, USA.
Abstract
Idiopathic carotidynia is a syndrome characterized by pain and tenderness over the carotid artery without an associated structural luminal abnormality. Controversy exists over whether this is a distinct disease entity or merely a symptom attributable to other causes of neck pain, such as carotid dissection or vasculitis. A 50-year-old woman presented with sudden-onset right neck pain. Imaging studies demonstrated transmural inflammation of the proximal internal carotid artery, without evidence of intraluminal pathology. The patient was placed on low-dose aspirin and ibuprofen. Her symptoms resolved within a week. At 3-month follow-up, her carotid artery appeared normal on duplex ultrasonography.
KEYWORDS:
carotid artery; carotidynia; ultrasound
PMID: 2833043

AJNR Am J Neuroradiol. 2017 May 11. doi: 10.3174/ajnr.A5214
TIPIC Syndrome: Beyond the Myth of Carotidynia, a New Distinct Unclassified Entity.

Lecler A1, Obadia M2, Savatovsky J2, Picard H2, Charbonneau F2, Menjot de Champfleur N2, Naggara O2, Carsin B2, Amor-Sahli M2, Cottier JP2, Bensoussan J2, Auffray-Calvier E2, Varoquaux A2, De Gaalon S2, Calazel C2, Nasr N2, Volle G2, Jianu DC2, Gout O2, Bonneville F2, Sadik JC2.
Author information
1
From the Departments of Radiology (A.L., J.S., F.C., J.C.S.), and Neurology (M.O., G.V., O.G.), and Clinical Research Unit (H.P.), Fondation Ophtalmologique Adolphe de Rothschild, Paris, France; Department of Neuroradiology (N.M.d.C.), Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier, France; Department of Radiology (B.C.), Centre Hospitalier Régional Universitaire de Rennes, Rennes, France; Department of Neuroradiology (O.N.), Centre Hospitalier Sainte-Anne, Paris, France; Department of Neuroradiology (M.A.-S.), Pitié-Salpêtrière Hospital, Paris, France; Centre D’imagerie Médicale Tourville (M.A.-S.), Paris, France; Department of Radiology (J.P.C.), Centre Hospitalier Régional Universitaire de Tours, Tours, France; Brain and Imaging Laboratory Unite Mixte de Recherche U930 (J.P.C.), Institut National de la Santé et de la Recherche Médicale, François-Rabelais University, Tours, France; Diagnostic and Interventional Neuroradiology Department (E.A.-C.) and Neurology Department (S.D.G.), Hôpital René et Guillaume-Laënnec, Centre Hospitalier Universitaire de Nantes, Saint-Herblain, France; Department of Radiology (J.B.), Hotel-Dieu Hospital, Paris, France; Department of Radiology (A.V.), Conception Hospital, Aix-Marseille University, Marseille, France; Departments of Neuroradiology (C.C., F.B.) and Neurology (N.N.), Hôpital Pierre-Paul-Riquet, Centre Hospitalier Universitaire Purpan, Toulouse, France; and Department of Neurology (D.C.J.), Victor Babes University of Medicine and Pharmacy, Timisoara, Romania. alecler@for.paris.
2
From the Departments of Radiology (A.L., J.S., F.C., J.C.S.), and Neurology (M.O., G.V., O.G.), and Clinical Research Unit (H.P.), Fondation Ophtalmologique Adolphe de Rothschild, Paris, France; Department of Neuroradiology (N.M.d.C.), Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier, France; Department of Radiology (B.C.), Centre Hospitalier Régional Universitaire de Rennes, Rennes, France; Department of Neuroradiology (O.N.), Centre Hospitalier Sainte-Anne, Paris, France; Department of Neuroradiology (M.A.-S.), Pitié-Salpêtrière Hospital, Paris, France; Centre D’imagerie Médicale Tourville (M.A.-S.), Paris, France; Department of Radiology (J.P.C.), Centre Hospitalier Régional Universitaire de Tours, Tours, France; Brain and Imaging Laboratory Unite Mixte de Recherche U930 (J.P.C.), Institut National de la Santé et de la Recherche Médicale, François-Rabelais University, Tours, France; Diagnostic and Interventional Neuroradiology Department (E.A.-C.) and Neurology Department (S.D.G.), Hôpital René et Guillaume-Laënnec, Centre Hospitalier Universitaire de Nantes, Saint-Herblain, France; Department of Radiology (J.B.), Hotel-Dieu Hospital, Paris, France; Department of Radiology (A.V.), Conception Hospital, Aix-Marseille University, Marseille, France; Departments of Neuroradiology (C.C., F.B.) and Neurology (N.N.), Hôpital Pierre-Paul-Riquet, Centre Hospitalier Universitaire Purpan, Toulouse, France; and Department of Neurology (D.C.J.), Victor Babes University of Medicine and Pharmacy, Timisoara, Romania.
Abstract
BACKGROUND AND PURPOSE:
The differential diagnosis of acute cervical pain includes nonvascular and vascular causes such as carotid dissection, carotid occlusion, or vasculitis. However, some patients present with unclassified vascular and perivascular changes on imaging previously reported as carotidynia. The aim of our study was to improve the description of this as yet unclassified clinico-radiologic entity.
MATERIALS AND METHODS:
From January 2009 through April 2016, 47 patients from 10 centers presenting with acute neck pain or tenderness and at least 1 cervical image showing unclassified carotid abnormalities were included. We conducted a systematic, retrospective study of their medical charts and diagnostic and follow-up imaging. Two neuroradiologists independently analyzed the blinded image datasets.
RESULTS:
The median patient age was 48 years. All patients presented with acute neck pain, and 8 presented with transient neurologic symptoms. Imaging showed an eccentric pericarotidian infiltration in all patients. An intimal soft plaque was noted in 16 patients, and a mild luminal narrowing was noted in 16 patients. Interreader reproducibility was excellent. All patients had complete pain resolution within a median of 13 days. At 3-month follow-up, imaging showed complete disappearance of vascular abnormalities in 8 patients, and a marked decrease in all others.
CONCLUSIONS:
Our study improved the description of an unclassified, clinico-radiologic entity, which could be described by the proposed acronym: TransIent Perivascular Inflammation of the Carotid artery (TIPIC) syndrome.
© 2017 American Society of Neuroradiology.

PMID: 28495942 DOI: 10.3174/ajnr.A5214

Vascular Neck Pain–A Common Syndrome Seldom Recognized
Cleveland Clinic Journal of Medicine.
LEONARD L. LOVSHIN, M.D.
Department of Internal Medicine
Abstract

A YOUNG or middle-aged women reported to her physician because of a sore throat, without fever or other constitutional manifestations, which may have been present for weeks or months. The patient believes that the glands in the neck are swollen. These “swollen glands” are said to act strangely: sometimes the swelling lasts only a few hours, sometimes it persists for weeks; it disappears mysteriously and recurs frequently. During the course of the physical examination the physician finds no abnormality, but when he re-examines the neck and follows the directions given by the patient, he finds a tender swelling that could be an inflamed lymph node.

The patient then is treated with a sulfonamide or with penicillin, and, when no relief ensues, a course of one of the broad-spectrum antibiotics is administered. This therapeutic program also is unsuccessful, and the harried physician begins to think of other possibilities. Since the patient has “swollen glands,” feels weak, tired, and run-down, and antimicrobial therapy has not helped, a diagnosis of infectious mononucleosis may be considered. But, results of a heterophil antibody test are negative, and the diagnosis is changed to possible viral infection.

After several weeks or months of having diagnoses changed, the nervous patient can sense that her physician is uncertain, and she begins to worry about the looming possibility of cancer. She keeps poking in the region of the soreness, and the area becomes even more tender. In desperation, further investigations are carried out and nothing definitely abnormal is found. Teeth . . .

http://journals.sagepub.com/doi/abs/10.1177/0009922816677040?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dpubmed&

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Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182

6948891480
alsfakia

Population Pharmacokinetic Analyses of Lithium: A Systematic Review

Abstract

Background and Objectives

Even though lithium has been used for the treatment of bipolar disorder for several decades, its toxicities are still being reported. The major limitation in the use of lithium is its narrow therapeutic window. Several methods have been proposed to predict lithium doses essential to attain therapeutic levels. One of the methods used to guide lithium therapy is population pharmacokinetic approach which accounts for inter- and intra-individual variability in predicting lithium doses. Several population pharmacokinetic studies of lithium have been conducted. The objective of this review is to provide information on population pharmacokinetics of lithium focusing on nonlinear mixed effect modeling approach and to summarize significant factors affecting lithium pharmacokinetics.

Methods

A literature search was conducted from PubMed database from inception to December, 2016. Studies conducted in humans, using lithium as a study drug, providing population pharmacokinetic analyses of lithium by means of nonlinear mixed effect modeling, were included in this review.

Results

Twenty-four articles were identified from the database. Seventeen articles were excluded based on the inclusion and exclusion criteria. A total of seven articles were included in this review. Of these, only one study reported a combined population pharmacokinetic–pharmacodynamic model of lithium. Lithium pharmacokinetics were explained using both one- and two-compartment models. The significant predictors of lithium clearance identified in most studies were renal function and body size. One study reported a significant effect of age on lithium clearance. The typical values of lithium clearance ranged from 0.41 to 9.39 L/h. The magnitude of inter-individual variability on lithium clearance ranged from 12.7 to 25.1%. Only two studies evaluated the models using external data sets.

Conclusions

Model methodologies in each study are summarized and discussed in this review. For future perspective, a population pharmacokinetic–pharmacodynamic study of lithium is recommended. Moreover, external validation of previously published models should be performed.

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Improving efficacy and efficiency through the implementation of a new organisational model in a Radiation Oncology Department

Abstract

Background

To evaluate a new organisational model, “process management” (PM), implemented in the Hospital Universitario Virgen de la Victoria (HUVV) compared with traditional models used in other Radiation Oncology Departments (RODs), in terms of efficacy and efficiency.

Methods

The study period ranged from September 2011 to August 2012. Efficacy was assessed, comparing the number of patients attended in first consultation and treated per month, average waiting time from referral to first visit and average waiting time from first visit to treatment. Data were collected from two public hospitals in Andalusia: the HUVV and another Public Hospital in Andalusia (PHA1). Efficiency was assessed comparing the costs per patient attended in first visit and treated at HUVV in 2012 compared with those of a second Public Hospital in Andalusia (PHA2) for 2008. The number of sessions saved using hypofractionation versus classical schemes during the year 2012 in HUVV was estimated, and the money saved was calculated.

Results

In the efficacy analysis, we found significant differences in the average waiting time for first visit, start of treatment, and the number of patients seen and treated annually. After calculating the total cost generated in the ROD, the efficiency analysis showed a lower cost per patient attended in first visit (EUR 599.17) and per patient treated (EUR 783.50), with a saving of 6035 sessions using hypofractionated schemes.

Conclusions

Process management in an ROD reduces time, both to first medical visit and to treatment initiation, allowing an optimisation of linear accelerator (LINAC) capacity.

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In vitro differentiated plasmacytoid dendritic cells as a tool to induce anti-leukemia activity of natural killer cells

Abstract

Acute lymphoblastic leukemia (ALL) is believed to be resistant to NK cell-mediated killing. To overcome this resistance, we developed an innovative approach based on NK cell stimulation with Toll-like receptor (TLR)-activated plasmacytoid dendritic cells (pDC). The translation of this approach into the clinic requires the production of high numbers of human pDC. Herein, we show that in vitro differentiation of cord blood CD34+ progenitors in the presence of aryl hydrocarbon receptor antagonists gives rise to clinically relevant numbers of pDC, as about 108 pDC can be produced from a typical cord blood unit. Blocking the aryl hydrocarbon receptor (AHR) pathway significantly increased the yield of pDC. When compared to pDC isolated from peripheral blood, in vitro differentiated pDC (ivD-pDC) exhibited an increased capacity to induce NK cell-mediated killing of ALL. Although ivD-pDC produced lower amounts of IFN-α than peripheral blood pDC upon TLR activation, they produced more IFN-λ2, known to play a critical role in the induction of anti-tumoral NK cell functions. Both TLR-9 and TLR-7 ligands triggered pDC-induced NK cell activation, offering the possibility to use any clinical-grade TLR-7 or TLR-9 ligands in future clinical trials. Finally, adoptive transfer of ivD-pDC cultured in the presence of an AHR antagonist cured humanized mice with minimal ALL disease. Collectively, our results pave the way to clinical-grade production of sufficient numbers of human pDC for innate immunotherapy against ALL and other refractory malignancies.

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Epidemiology of Keratinocyte Carcinoma

Abstract

Purpose of the Review

The study aimed to provide a synopsis of recent research advances in the epidemiology of keratinocyte carcinoma (KC), with a focus on indoor tanning and known risk factors for other forms of cancer such as cigarette smoking and alcohol drinking.

Recent Findings

The evidence is strong enough to infer that use of ultraviolet radiation (UVR)-emitting indoor tanning devices causes KC. Epidemiologic studies of cigarette smoking, alcohol drinking, and menopausal hormone therapy tend to show some suggestion for increased risk of KC but the evidence is not yet strong enough to determine if there is a true etiologic role. Body mass index is clearly inversely associated with KC risk, but this is more likely to be due to lower UVR exposure in overweight and obese individuals than it is due to a true etiologic role.

Summary

The epidemic of KC continues unabated, and the causal role of indoor tanning is contributing to this unfavorable trend in KC incidence rates. Advances in understanding the etiology of KC should not divert attention away from the fact that the primary public health strategy to prevent KC is known: minimize population exposure to UVR from the sun and from UVR-emitting indoor tanning devices, particularly among those with sun-sensitive phenotypes.

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Chronic Non-Cancer Pain Management Capacity in Karachi

Abstract

Chronic non-cancer pain (CNCP) affects people everywhere in the world, but people in developing countries have far less access to therapies that provide relief. There are often missed opportunities to implement these therapies. Karachi shares many characteristics with megacities of the global south and represents Pakistan in the global city league. This review informs readers about the availability of health management and pain services for CNCP in Karachi, and their comparability to those found in other global cities. The literature about CNCP and its management in Karachi and Pakistan is scarce. Nevertheless, some conclusions can be made. In order to inform readers based in other global cities, a brief review of the current health system and pain services in Karachi and Pakistan are discussed together with barriers that impede pain service outputs. The present review employs vignettes to illustrate typical experiences of CNCP patients seeking pain management services in three sectors: public, charitable, and private institutions.

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Genetic diagnostics of inherited aortic diseases

Abstract

Genetic aortic syndromes (GAS) include Marfan, Loeys–Dietz, vascular Ehlers–Danlos, and Turner syndrome as well as congenital bicuspid aortic valve. The clinical management of these diseases has certain similarities and differences. We employed medical strategy analysis to test the utility of genetic diagnostics in the management of GAS. We chose the standpoint of the cardiologist for our analysis. In the first step, the medical goals in the management of GAS are specified. In the second step, the accuracy of genetic diagnostics for GAS is examined. Finally, conclusions can be drawn about the utility of genetic diagnostics in managing GAS. We found that genetic diagnostics is necessary to exclude GAS, to diagnose GAS, and to specify disease types. Second, combining phenotype with genotype information maximizes the predictability of the course of disease. Third, with genetic diagnostics it is possible to predict the birth of children with causative mutations for GAS and to initiate drug therapy to prevent the onset of aortic dilatation or to slow down its progression to aortic aneurysm. Finally, genetic diagnostics improves prognostic predictions and thereby contributes to a better timing of elective surgery and to a better choice of procedures. The findings of our medical strategy analysis indicate the high utility of genetic diagnostics for managing GAS.

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Angeborene Störungen im Lipoproteinstoffwechsel

Zusammenfassung

Die angeborenen Störungen des Fettstoffwechsels werden durch eine breite Palette von Varianten in Genen für Rezeptoren, Apolipoproteine, Enzyme, Transferfaktoren und zelluläre Cholesterintransporter verursacht. Klinisch die größte Bedeutung haben die autosomal-dominante familiäre Hypercholesterinämie (FH) und die familiäre kombinierte Hyperlipoproteinämie (FKHL). Die FH hat eine Prävalenz von 1:250. Sie ist auf Mutationen des LDL(„low-density lipoprotein“)-Rezeptors (LDLR), seltener auf Mutationen von Apolipoprotein B (APOB), PCSK9 („proprotein convertase subtilisin/kexin type 9“) oder STAP-1 („signal transducing adaptor family member 1“) zurückzuführen. Die FH führt meist zu frühzeitiger Atherosklerose. Die Diagnose kann nur molekulargenetisch sicher gestellt werden. Der Nachweis von Mutationen an LDLR, APOB oder PCSK9 ist unabhängig vom Serumwert für LDL-Cholesterin ein Indikator für extrem hohes kardiovaskuläres Risiko. Die FKHL ist ebenfalls häufig (1:100) und kommt bei etwa 10 % der Patienten mit frühem Myokardinfarkt vor. Sie entsteht durch Kombinationen von häufigen genetischen Varianten mit Wirkungen auf Triglyzeride und LDL-Cholesterin. Weitere monogene Hyperlipoproteinämien (HLP) betreffen den Abbau der Chylomikronen (familiäre Chylomikronämie) oder der „remnants“ triglyzeridreicher Lipoproteine (Typ-III-Hyperlipoproteinämie). Im Stoffwechsel der HDL sind viele erbliche Störungen bekannt. Die atherogene Wirkung dieser Defekte ist unterschiedlich. Aktuell werden Sequenzierungsmethoden der zweiten Generation angewendet, um die relevanten Gene simultan zu sequenzieren. Diese Vorgehensweise liefert kostenneutral auch weitere Informationen wie genetisches Atheroskleroserisiko und Prädisposition zur Statinunverträglichkeit.

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Management der arteriellen Hypertonie

Zusammenfassung

Die arterielle Hypertonie hat eine hohe Prävalenz und ist einer der bedeutendsten Risikofaktoren für die Entwicklung kardiovaskulärer Erkrankungen. Ihre weltweite Morbidität und Mortalität stellt auch ein großes sozioökonomisches Problem dar. Trotz beachtlicher Fortschritte bei der Aufklärung, Diagnose und Behandlung des Bluthochdrucks weist weniger als die Hälfte der Hypertoniker einen Blutdruck unter 140/90 mm Hg auf. Die Diagnose wird in der Regel bei der Untersuchung in der Klinik oder Praxis gestellt. Um eine isolierte Praxishypertonie („white coat hypertension“) oder einen maskierten Hochdruck (Normotension nur bei der Praxismessung) nachzuweisen, kommt auch der praxisunabhängigen Blutdruckmessung (Langzeitblutdruckmessung oder häusliche Blutdruckselbstmessung) eine besondere Bedeutung zu. Zur Behandlung stehen medikamentöse und nichtmedikamentöse Maßnahmen zur Verfügung. Welcher Zielblutdruckwert für den individuellen Patienten der richtige ist, wird derzeit kontrovers diskutiert. Die europäischen und die identischen nationalen Leitlinien von 2013 empfehlen einen Zielblutdruck für fast alle Patienten von unter 140/90 mm Hg. Die SPRINT-Studie aus dem Jahr 2015 konnte allerdings zeigen, dass einige Patienten von einer strengeren Blutdruckeinstellung hinsichtlich des Auftretens kardiovaskulärer Ereignisse profitieren können. Dieser CME-Beitrag fasst die aktuellen Diskussionen um das Management der arteriellen Hypertonie zusammen und soll vor dem Hintergrund dieser neuen Entwicklungen Tipps für die Praxis geben.

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