scholarly journals Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 811
Author(s):  
Aurora Arghir ◽  
Roxana Popescu ◽  
Irina Resmerita ◽  
Magdalena Budisteanu ◽  
Lacramioara Ionela Butnariu ◽  
...  
Keyword(s):  
Daily Practice ◽  
Postnatal Growth ◽  
Alternative Methods ◽  
Buccal Swab ◽  
Isochromosome 12P ◽  
Sensory Impairments ◽  
Possible Cause ◽  
Tissue Defects ◽  
Growth Deficit

Pallister–Killian syndrome (PKS) is a rare, sporadic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, intellectual disability, hypotonia, and seizures caused by 12p tetrasomy due to an extra isochromosome 12p. We present three cases of PKS and two cases of trisomy 12p to illustrate and discuss features rarely cited in the literature, present certain particularities that not yet been cited, and analyze the differences between entities. Moreover, we present alternative methods of diagnosis that could be easily used in daily practice. Features not yet or rarely reported in PKS literature include marked excess of hair on the forehead and ears in the first months of life, a particular eye disorder (abnormal iris color with pointed pupil), connective tissue defects, repeated episodes of infection and autonomic dysfunction, endocrine malfunction as a possible cause of postnatal growth deficit, more complex sensory impairments, and mild early myoclonic jerks. After performing different combinations of tests, we conclude that MLPA (follow-up kit P230-B1) or array CGH using DNA extracted from a buccal swab is a reliable method of diagnosis in PKS and we recommend either one as a first intention diagnostic test. In cases without major defects associated (suspicion trisomy 12p), subtelomeric MLPA should be performed first.

Treatment of varicose tributaries with sclerotherapy with polidocanol 0.5 % foam

VASA ◽  
2010 ◽  
Vol 39 (2) ◽  
pp. 169-174 ◽  
Author(s):  
Reich-Schupke ◽  
Weyer ◽  
Altmeyer ◽  
Stücker
Keyword(s):  
Scientific Evidence ◽  
Daily Practice ◽  
Severe Adverse Effect ◽  
Safe Procedure ◽  
Efficacy And Safety ◽  
Foam Sclerotherapy ◽  
History Of ◽  
One Year ◽  
Additional Therapy

Background: Although foam sclerotherapy of varicose tributaries is common in daily practice, scientific evidence for the optimal sclerosant-concentration and session-frequency is still low. This study aimed to increase the knowledge on foam sclerotherapy of varicose tributaries and to evaluate the efficacy and safety of foam sclerotherapy with 0.5 % polidocanol in tributaries with 3-6 mm in diameter. Patients and methods: Analysis of 110 legs in 76 patients. Injections were given every second or third day. A maximum of 1 injection / leg and a volume of 2ml / injection were administered per session. Controls were performed approximately 6 months and 12 months after the start of therapy. Results: 110 legs (CEAP C2-C4) were followed up for a period of 14.2 ± 4.2 months. Reflux was eliminated after 3.4 ± 2.7 injections per leg. Insufficient tributaries were detected in 23.2 % after 6.2 ± 0.9 months and in 48.2 % after 14.2 ± 4.2 months, respectively. Only 30.9 % (34 / 110) of the legs required additional therapy. In 6.4 % vein surgery was performed, in 24.5 % similar sclerotherapy was repeated. Significantly fewer sclerotherapy-sessions were required compared to the initial treatment (mean: 2.3 ± 1.4, p = 0.0054). During the whole study period thrombophlebitis (8.2 %), hyperpigmentation (14.5 %), induration in the treated region (9.1 %), pain in the treated leg (7.3 %) and migraine (0.9 %) occurred. One patient with a history of thrombosis developed thrombosis of a muscle vein (0.9 %). After one year there were just hyperpigmentation (8.2 %) and induration (1.8 %) left. No severe adverse effect occurred. Conclusions: Foam sclerotherapy with injections of 0.5 % polidocanol every 2nd or 3rd day, is a safe procedure for varicose tributaries. The evaluation of efficacy is difficult, as it can hardly be said whether the detected tributaries in the controls are recurrent veins or have recently developed in the follow-up period. The low number of retreated legs indicates a high efficacy and satisfaction of the patients.

A Review of Selected Adult Congenital Heart Diseases Encountered in Daily Practice

2020 ◽  
Vol 16 ◽  
Author(s):  
Farhan Bajwa ◽  
Syed M Jafri ◽  
Karthik Ananthasubramaniam
Keyword(s):  
Surgical Procedures ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Daily Practice ◽  
Congenital Heart Diseases ◽  
Congenital Diseases ◽  
Adult Congenital ◽  
The Common ◽  
Adult Congenital Heart Diseases

: The advancement in corrective surgical procedures and anaesthesia technology has resulted in the increase survival of patients with Congenital Heart Diseases (CHD). Most of the surviving CHD patients have successfully reached adulthood and those surviving adults now outnumber the infants born with the CHD. Unfortunately, the surviving adults with CHD do not get proper care due to either inconsistent follow up or not getting care from a specialist in the field of CHD. It is imperative for general practicing clinicians to be aware of the congenital diseases as well as the current clinical recommendations. This manuscript reviews some of the common congenital diseases seen in adults such as cardiac shunts, left heat obstructive lesions and aortopathies.

Diagnostic Usage of Low Dose CT in Solitary Pulmonary Nodule Follow Up in Daily Practice

2017 ◽  
Vol 13 (4) ◽  
Author(s):  
Mehmet Ali Ikidag ◽  
Meral Uyar ◽  
Nevhiz Gundogdu ◽  
Mehmet Ali Cuce ◽  
Maruf Sanli ◽  
...  
Keyword(s):  
Pulmonary Nodule ◽  
Low Dose ◽  
Solitary Pulmonary Nodule ◽  
Daily Practice ◽  
Low Dose Ct

scholarly journals Insights on safety and efficacy of renal artery denervation for uncontrolled-resistant hypertension in a high risk population with chronic kidney disease: first Italian real-world experience

2021 ◽  
Author(s):  
Federico Marin ◽  
Simone Fezzi ◽  
Alessia Gambaro ◽  
Francesco Ederle ◽  
Gianluca Castaldi ◽  
...  
Keyword(s):  
High Risk ◽  
Medical Therapy ◽  
Resistant Hypertension ◽  
Univariate Analysis ◽  
Daily Practice ◽  
Renal Sympathetic Denervation ◽  
High Risk Population ◽  
Safety And Efficacy ◽  
Renal Artery Denervation

Abstract Aims To evaluate the safety and efficacy of catheter-based radiofrequency renal sympathetic denervation (RSD) in a daily practice population of patients with uncontrolled resistant hypertension, on top of medical therapy. Methods Consecutive unselected patients with uncontrolled resistant hypertension undergoing RSD were enrolled. Office and ambulatory blood pressure (BP) measurements were collected at baseline and 3, 6 and 12 months after RSD. Efficacy was assessed even in patients with an estimated glomerular filtration rate (eGFR) below 45 mL/min/1.73 m2. Patients were defined as responders if systolic BP decreased by at least 5 mmHg at ambulatory BP or by 10 mmHg at office BP at their last follow-up visit. Results Forty patients with multiple comorbidities underwent RSD from 2012 to 2019. Baseline office and ambulatory BP was 159.0/84.9 ± 26.2/14.9 mmHg and 155.2/86.5 ± 20.9/14.0 mmHg, respectively. At 12-month follow up a significant reduction in office and ambulatory systolic BP, respectively by − 19.7 ± 27.1 mmHg and by − 13.9 ± 23.6 mmHg, was observed. BP reduction at 12-month follow-up among patients with eGFR < 45 mL/min was similar to that obtained in patients with higher eGFR. Twenty-nine patients (74.4%) were responders. Combined hypertension, higher ambulatory systolic BP and lower E/E’ at baseline emerged as predictors of successful RSD at univariate analysis. No major complications were observed and renal function (was stable up to 12 months), even in patients with the lowest eGFR values at baseline. Conclusion RSD is safe and feasible in patients with uncontrolled resistant hypertension on top of medical therapy, even in a high-risk CKD population with multiple comorbidities, with a significant reduction in systolic BP and a trend towards a reduction in diastolic BP lasting up to 12 months. Graphic abstract

scholarly journals Utility of endoscopic ultrasound in idiopathic acute recurrent pancreatitis

2021 ◽  
Vol 8 (1) ◽  
pp. e000538
Author(s):  
Alejandra Tepox-Padrón ◽  
Rafael Ambrosio Bernal-Mendez ◽  
Gilberto Duarte-Medrano ◽  
Adriana Fabiola Romano-Munive ◽  
Milton Mairena-Valle ◽  
...  
Keyword(s):  
Acute Pancreatitis ◽  
Chronic Pancreatitis ◽  
Endoscopic Ultrasound ◽  
Complete Resolution ◽  
Diagnostic Yield ◽  
Recurrent Pancreatitis ◽  
Mucinous Neoplasm ◽  
Possible Cause ◽  
Symptoms And Signs

Idiopathic acute recurrent pancreatitis (IARP) is defined as at least two episodes of acute pancreatitis with the complete or near-complete resolution of symptoms and signs of pancreatitis between episodes, without an identified cause. There is a paucity of information about the usefulness of endoscopic ultrasound (EUS) in IARP.ObjectivesTo determine the diagnostic yield of EUS in IARP.DesignA retrospective study was performed in patients with IARP evaluated by EUS between January 2009 and December 2016. Follow-up assessments of acute pancreatitis recurrence were carried out.ResultsSeventy-three patients with 102 EUS procedures were included. EUS was able to identify the cause of IARP in 55 patients (75.3%). The most common findings were chronic pancreatitis in 27 patients (49.1%), followed by lithiasic pathology in 24 patients (43.6%), and intraductal papillary mucinous neoplasm in four patients (7.3%). A directed treatment against EUS findings had a protective tendency associated with the final resolution of recurrence. There were no complications reported.ConclusionEUS performed in patients with IARP helped to identify a possible cause in 2/3 of the cases. The majority of patients have a treatable disease.

scholarly journals SAT0364 DATA TO BE COLLECTED FOR AN OPTIMAL MANAGEMENT OF AXIAL SPONDYLOARTHRITIS IN DAILY PRACTICE: PROPOSAL FROM AN EVIDENCE BASED AND CONSENSUAL APPROACHES

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1129.1-1129
Author(s):  
A. Baillet ◽  
X. Romand ◽  
A. Pfimlin ◽  
M. Dalecky ◽  
M. Dougados
Keyword(s):  
Ankylosing Spondylitis ◽  
Disease Activity ◽  
Axial Spondyloarthritis ◽  
Activity Index ◽  
Disease Activity Index ◽  
Daily Practice ◽  
Evidence Based ◽  
Periodic Review ◽  
Grade Scale

Background:Standardization of clinical practice has been proven to be effective in management of chronic diseases. This is particularly true at the time where the concept of treat to target is becoming more and more important in the field of axial spondyloarthritis (ax-SpA).Objectives:To propose a list of variables to be collected at the time of the diagnosis and over the follow-up of patients with axial spondyloarthritis (ax-SpA) for an optimal management in daily practice.Methods:The process comprised (1) the evaluation of the interest of 51 variables proposed for the assessment of axSpA via a systematic literature research, (2) a consensus process involving 78 hospital-based or office-based rheumatologists, considering the collection of the variable in a 4 grade scale from ”potentially useful” to “mandatory”, (3) a consensus on optimal timeline for periodic assessment of the selected variables on a 5 grade scale from “at each visit” to “never to be re-collected”.Results:The systematic literature research retrieved a total of 14,133 abstracts, of which 213 were included in the final qualitative synthesis. Concerning the data to be collected at the time of the diagnosis and during follow-up, we proposed to differentiate the results based on a) the way of collection of the variables (e.g. questionnaires by the patient, interview by the physician, physical examination, investigations) b) the usefulness these variables in daily practice based on the opinion of the rheumatologists ” c) the optimal timeline between 2 evaluations of the variable based on the opinion of the rheumatologists. In the initial systematic review, symptoms of heart failure history of inflammatory bowel disease, psoriasis or uveitis, patient global visual analogic scale, spine radiographs, modified Schöber test, coxo-femoral rotations, swollen joint count, urine strip test, BASDAI and ASDAS global scores were considered very useful and nocturnal back pain/morning stiffness, sacro-iliac joints radiographs and CRP were considered mandatory (Figure 1). Timeline between 2 evaluations of variables to collect in the periodic review are summarized inFigure 2.Figure 1.Core sets of items to collect and report in the systematic review in axial spondyloarthritis management in daily practice ASDAS=Ankylosing Spondylitis Disease Activity Score, BASDAI=Bath Ankylosing Spondylitis Disease Activity Index, BASFI=Bath Ankylosing Spondylitis Functionnal Index, BASMI=Bath Ankylosing Spondylitis Metrology Index, CRP=C Reactive Protein, CT=computerized tomography, FIRST=Fibromyalgia Rapid Screening Tool, HLA=Human Leukocyte Antigen, MRI=Magnetic resonance imaging, PET=positron emission tomography.Figure 2.Periodic review timeline of variables to collectASDAS=Ankylosing Spondylitis Disease Activity Score, BASDAI=Bath Ankylosing Spondylitis Disease Activity Index, Spondylitis Metrology Index, CRP=C Reactive Protein, IBD = inflammatory bowel diseases, PRO = Patient Reported OutcomesConclusion:Using an evidence-based and an expert consensus approaches, this initiative defined a core set of variables to be collected and reported at the time of the diagnosis and during follow-up of patients with ax-SpA in daily practice.Acknowledgments:this study has been conducted in two parts: the first one (evidence-based) was conducted thanks to a support from Abbvie France. AbbVie did not review the content or have influence on this manuscript. The second part of this initiative (consensus) has been conducted thanks to a support from the scientific non-profit organization: Association de Recherche Clinique en RhumatologieDisclosure of Interests:Athan Baillet Consultant of: Athan BAILLET has received honorarium fees from Abbvie for his participation as the coordinator of the systematic literature review, Xavier Romand Consultant of: Xavier ROMAND has received honorarium fees from Abbvie, Arnaud Pfimlin Consultant of: Arnaud PFIMLIN has received honorarium fees from Abbvie, Mickael Dalecky Consultant of: Mickael DALECKY has received honorarium fees from Abbvie, Maxime Dougados Grant/research support from: AbbVie, Eli Lilly, Merck, Novartis, Pfizer and UCB Pharma, Consultant of: AbbVie, Eli Lilly, Merck, Novartis, Pfizer and UCB Pharma, Speakers bureau: AbbVie, Eli Lilly, Merck, Novartis, Pfizer and UCB Pharma

Initial results and long-term clinical follow-up of an amorphous hydrogenated silicon-carbide-coated stent in daily practice

1998 ◽  
Vol 1 (2) ◽  
pp. 81-85
Author(s):  
Clara EE Hanekamp ◽  
Hans JRM Bonnier ◽  
Rolf H Michels ◽  
Kathinka H Peels ◽  
Eric PCM Heijmen ◽  
...  
Keyword(s):  
Silicon Carbide ◽  
Daily Practice ◽  
Hydrogenated Silicon ◽  
Amorphous Hydrogenated Silicon ◽  
Initial Results

Sensory Impairments and Mortality in an Elderly Community Population: A Six-year Follow-up Study

1995 ◽  
Vol 24 (1) ◽  
pp. 30-36 ◽  
Author(s):  
ILDEBRANDO APPOLLONIO ◽  
CORRADO CARABELLESE ◽  
EUGENIO MAGNI ◽  
LODOVICO FRATTOLA ◽  
MARCO TRABUCCHI
Keyword(s):  
Follow Up Study ◽  
Sensory Impairments ◽  
Community Population

FC 059EARLY LIFE FACTORS AND ADULT KIDNEY FUNCTION ESTIMATED BY CYSTATIN C AND CREATININE GLOMERULAR FILTRATION RATE EQUATIONS AND ALBUMINURIA: A SWEDISH COHORT STUDY

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Agne Laucyte-Cibulskiene ◽  
Shantanu Sharma ◽  
Peter M Nilsson ◽  
Anders Christensson
Keyword(s):  
Regression Analysis ◽  
Birth Weight ◽  
Kidney Function ◽  
Cystatin C ◽  
Early Life ◽  
Postnatal Growth ◽  
Lower Birth Weight ◽  
Adult Kidney ◽  
Early Life Factors

Abstract Background and Aims Renal functional capacity is influenced by factors acting early in life, such as intrauterine environment, maturity, birth weight, length at birth, placental weight etc. Early life factors are responsible for the number of nephrons a person starts life with, and the consequence of a low nephron number is earlier kidney ageing and chronic kidney disease (CKD). Notably, most reports addressing early life factors in the context of adult kidney function use creatinine-based eGFR equations and/or albuminuria and lack longer follow-up (&lt;30 years). Therefore, we aimed to identify early life factors associated with kidney function, determined by different creatinine and cystatin C equations and urinary albumin-to-creatinine ratio (UACR), more than 40 years later. Method 94 women and 494 men, born 1923-50, who participated in The Malmo Diet and Cancer (MDC) study were analyzed. Perinatal data records including birth weight (BW), birth length, head circumference, gestational age, placenta weight (PW) and mother related risk factors were collected from hospital and regional state archives. After a follow-up of 46 to 67 years study subjects underwent physical examination, blood pressure measurements and estimation of glomerular filtration rate (eGFR) using 4 different equations: Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) 2012 creatinine and cystatin C formula (CKD-EPI_creatinine, CKD-EPI_cystatin C), cystatin C eGFR equation based on Caucasian, Asian, pediatric, and adult cohorts (CAPA), the Lund-Malmö revised creatinine based eGFR equation (LM_rev). Urinary albumin-to-creatinine ratio (UACR) was measured in morning urine samples, albuminuria was defined as UACR ⩾3 mg/mmol. Birth weight z-scores (gender specific BWz and combined BWz) acquired by using the equation as reported by Marsal et al.(1996). Four growth mismatch phenotypes defined by combining low or high BW z-score (lowBWz or hiBWz respectively) with lower or higher body mass index at 20 years of age (lowBMI20 ir hiBMI20 respectively). Results Linear regression analysis of early life factors indicated that in females birth weight was positively associated with kidney function measured by both CAPA and CKD-EPI_cystatin C. In the whole population, birth weight adjusted for gestational age and sex, together with prematurity were independently associated to CKD-EPI_cystatin C, while BW/PW ratio was related to LM_rev. Logistic regression analysis showed that only gender specific BWz and combined BWz shared the same odds ratios for age and pulse pressure adjusted albuminuria in males (OR 0,75 (95%CI [0,58; 0,96]). While analyzing postnatal growth mismatch we found that females with hiBWz/lowBMI20 phenotype had significantly worse kidney function acquired by both cystatin C equations compared to those with lowBWz/lowBMI20 phenotype (p=0.044 for CAPA, p=0.040 for CKD-EPI_cystatin C). The logistic regression analysis revealed that hiBWz/hiBMI20 phenotype was related to lower risk of age and pulse pressure adjusted albuminuria (OR 0,35 (95%CI[0,12;0,93]) Conclusion Here we report that lower birth weight in females is associated with worse kidney function determined by cystatin C eGFR equations, while in males lower birth weight z-score is a risk factor for albuminuria in adulthood. Postnatal growth catch-up is not related to worse kidney function. We identified the protective phenotype (hiBWz/hiBMI20) for albuminuria in males and the unfavorable phenotype (hiBWz/lowBMI20) for kidney function in females. This suggests that lower birth weight and postnatal growth curve have a potential sex specific effect to kidney function and development of CKD in middle-aged Swedish subjects. Further studies are warranted to address early life factor prognostic accuracy in kidney function and outcomes prediction later in the lifetime.

scholarly journals Modified Recipient Blood Flow-Preserved Cross-Leg Anterolateral Thigh Flap Procedure for Complex Lower Extremity Reconstruction

2021 ◽  
Author(s):  
Hong-Xiang Zhou ◽  
Liang He ◽  
Dong Yin ◽  
Yang Niu ◽  
Zhe Jin ◽  
...  
Keyword(s):  
Blood Flow ◽  
Lower Limb ◽  
Posterior Tibial Artery ◽  
Anterolateral Thigh Flap ◽  
Posterior Tibial ◽  
Thickness Skin ◽  
Anterolateral Thigh ◽  
Flap Procedure ◽  
Tissue Defects

Abstract Background Complex lower limb reconstruction following severe trauma remains a challenge for reconstructive surgeons. Here, we introduce a modified recipient blood flow-preserved cross-leg anterolateral thigh flap procedure and evaluate its clinical efficacy. Methods Between January 2013 and December 2019, 22 patients (range 10 to 64 years old) with unilateral lower limb injuries underwent modified recipient blood flow-preserved cross-leg anterolateral thigh flap procedures. Among them, 16 cases were traffic accidents, 5 cases were persistent ulcers, and 1 case was a degloving injury. The arterial pedicle of the flap was prepared in a Y-shaped fashion and microanastomosed to the contralateral posterior tibial artery in a flow-through style. A split-thickness skin graft was applied to wrap the vascular pedicle after anastomosis. The flap was designed in a single or bilobed fashion according to the shape of the defects. The tissue defects ranged from 12 × 6 to 21 × 18 cm2. The vascular pedicle was divided 4 weeks after vascular anastomosis. Doppler ultrasound was performed to evaluate the blood flow of the recipient posterior tibial artery during postoperative follow-up. Results All 22 flaps survived. The flap sizes ranged from 14 × 7.5 to 24 × 21 cm2. Eighteen flaps were designed in a single fashion, and four flaps were bilobed. Twenty patients underwent fasciocutaneous flap transplantation, and two underwent musculocutaneous flap transplantation. Two cases developed local lysis of the flap, and the wound healed after further debridement. Direct suture of the donor-site incision was performed in 16 cases, while additional full-thickness skin grafting was performed in the remaining 6 cases. Further bone transport procedures were performed in 15 patients with severe tibia bone defects. Blood flow of recipient posterior tibial arteries was confirmed during follow-up. All flaps recovered sensation at the final follow-up. The postoperative follow-up ranged from 18 to 84 months, and no long-term complications were observed. Conclusions The modified recipient blood flow-preserved cross-leg anterolateral thigh flap procedure is an ideal method to repair large tissue defects without sacrificing the major artery of the uninjured lower limb.

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